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1. Factors Associated With Bullying Victimization and Bullying Perpetration in Children and Adolescents With ADHD: 2016 to 2017 National Survey of Children's Health

Author

Carolina Cuba Bustinza, Ryan E. Adams, Angelika H. Claussen, Daniel Vitucci, Melissa L. Danielson, Joseph R. Holbrook, Sana N. Charania, Kaila Yamamoto, Nichole Nidey, and Tanya E. Froehlich

Subjects
Male, Clinical Psychology, Adolescent, Attention Deficit Disorder with Hyperactivity, Developmental and Educational Psychology, Child Health, Bullying, Humans, Female, Child, Crime Victims, Peer Group
Abstract

Objective: To identify characteristics associated with bullying involvement in pediatric ADHD. Methods: Data from the 2016 to 2017 National Survey of Children’s Health for children aged 6 to 17 years with ADHD were evaluated to assess the association between parent-reported bullying victimization or perpetration and the following potential predictors: demographic characteristics, family factors, school factors, and child conditions/behaviors. Results: Among children with ADHD, 46.9% were bullying victims and 16.2% were perpetrators. Factors associated with victimization included having family financial strain, developmental delay or intellectual disability, friendship difficulties, and school reports about problems. Factors linked to perpetration included being male, receiving government assistance, lack of school engagement, school reports about problems, and having difficulties with friendships, staying calm, and arguing. Conclusions: Children with ADHD frequently were bullying victims and sometimes bullying perpetrators. Factors related to family financial strain, developmental disabilities, emotional regulation, peer relationships, and school functioning may help to identify risk for bullying and opportunities for anti-bullying interventions.

Published
2023

2. Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial

Author

Alberto M Borobia, Antonio J Carcas, Mayte Pérez-Olmeda, Luis Castaño, María Jesús Bertran, Javier García-Pérez, Magdalena Campins, Antonio Portolés, María González-Pérez, María Teresa García Morales, Eunate Arana-Arri, Marta Aldea, Francisco Díez-Fuertes, Inmaculada Fuentes, Ana Ascaso, David Lora, Natale Imaz-Ayo, Lourdes E Barón-Mira, Antonia Agustí, Carla Pérez-Ingidua, Agustín Gómez de la Cámara, José Ramón Arribas, Jordi Ochando, José Alcamí, Cristóbal Belda-Iniesta, Jesús Frías, Lucía Martínez de Soto, Amelia Rodríguez Mariblanca, Lucía Díaz García, Elena Ramírez García, Enrique Seco Meseguer, Stefan Mark Stewart Balbás, Alicia Marín Candón, Irene García García, Mikel Urroz Elizalde, Jaime Monserrat Villatoro, Paula de la Rosa, Marta Sanz García, Cristina López Crespo, Vega Mauleón Martínez, Raquel de Madariaga Castell, Laura Vitón Vara, Julio García Rodríguez, Antonio Buño, Eduardo López Granados, Carmen Cámara, Esther Rey Cuevas, Pilar Ayllon García, María Jiménez González, Victoria Hernández Rubio, Paloma Moraga Alapont, Amparo Sánchez, Rocío Prieto, Silvia Llorente Gómez, Cristina Miragall Roig, Marina Aparicio Marlasca, Fernando de la Calle, Marta Arsuaga, Blanca Duque, Susana Meijide, Aitor García de Vicuña, Ana Santorcuato, Iraide Expósito, Sara de Benito, Joseba Andia, Cristina Castillo, Esther Irurzun, Jesús Camino, Mikel Temprano, Josune Goikoetxea, Alazne Bustinza, Maialen Larrea, Mikel Gallego, Dolores García-Vázquez, Ana Belén de la Hoz, Gustavo Pérez-Nanclares, Estíbaliz Pérez-Guzmán, Eneko Idoyaga, Adriana Lamela, Jesús Oteo, María Castillo de la Osa, Lourdes Hernández Gutiérrez, María Elena Andrés Galván, Esther Calonge, Mercedes Bermejo, Erick Humberto de la Torre-Tarazona, Almudena Cascajero, Giovanni Fedele, Concepción Perea, Isabel Cervera, Irene Bodega-Mayor, María Montes-Casado, Pilar Portolés, Jana Baranda, Laura Granés, Sulayman Lazaar, Sara Herranz, María Eugènia Mellado, Marta Tortajada, Montserrat Malet, Sebastiana Quesada, Anna Vilella, Anna Llupià, Victoria Olivé, Antoni Trilla, Begoña Gómez, Elisenda González, Sheila Romero, Francisco Javier Gámez, Cristina Casals, Laura Burunat, Juan José Castelló, Patricia Fernández, Josep Lluís Bedini, Jordi Vila, Carla Aguilar, Carmen Altadill, Lluis Armadans, Blanca Borras-Bermejo, Julia Calonge, Lina Camacho, Anna Feliu, Gisela Gili, Cesar Llorente, Xavier Martínez-Gómez, Susana Otero-Romero, Esther Palacio, Oleguer Parés, Laia Pinós, Aitana Plaza, Judit Riera-Arnau, José Angel Rodrigo-Pendás, Carla Sans, José Santos, Gloria Torres, Margarita Torrens, Sonia Uriona, Elena Ballarin Alins, Eulàlia Pérez Esquirol, Lourdes Vendrell Bosch, Leonor Laredo Velasco, Diana Uribe López, Esperanza González Rojano, Manuel Sánchez-Craviotto, Ana Belén Rivas Paterna, Teresa Iglesias Hernán-Gómez, Natalia Rodríguez Galán, José Antonio Gil Marín, Verónica Álvarez-Morales, Ana Belén Navalpotro, M Dolores Jiménez-Santamaría, M Carmen Cardós, Elena Hermoso, Mar García-Arenillas, Natalia Pérez Macías, Alexandra Domingo Fernández, Amanda López Picado, Jorge Mario Quiñones, Nicoletta Deidda, Ana García-Franco, and José María Torvisco

Subjects
Adult, Male, medicine.medical_specialty, COVID-19 Vaccines, Adolescent, Immunization, Secondary, 030204 cardiovascular system & hematology, law.invention, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Immunogenicity, Vaccine, Randomized controlled trial, law, Internal medicine, ChAdOx1 nCoV-19, medicine, Humans, 030212 general & internal medicine, Young adult, Adverse effect, BNT162 Vaccine, Reactogenicity, business.industry, SARS-CoV-2, Immunogenicity, COVID-19, Viral Vaccines, General Medicine, Articles, Middle Aged, Clinical trial, Vaccination, Spain, Spike Glycoprotein, Coronavirus, Female, Intramuscular injection, business
Abstract

Background To date, no immunological data on COVID-19 heterologous vaccination schedules in humans have been reported. We assessed the immunogenicity and reactogenicity of BNT162b2 (Comirnaty, BioNTech, Mainz, Germany) administered as second dose in participants primed with ChAdOx1-S (Vaxzevria, AstraZeneca, Oxford, UK). Methods We did a phase 2, open-label, randomised, controlled trial on adults aged 18–60 years, vaccinated with a single dose of ChAdOx1-S 8–12 weeks before screening, and no history of SARS-CoV-2 infection. Participants were randomly assigned (2:1) to receive either BNT162b2 (0·3 mL) via a single intramuscular injection (intervention group) or continue observation (control group). The primary outcome was 14-day immunogenicity, measured by immunoassays for SARS-CoV-2 trimeric spike protein and receptor binding domain (RBD). Antibody functionality was assessed using a pseudovirus neutralisation assay, and cellular immune response using an interferon-γ immunoassay. The safety outcome was 7-day reactogenicity, measured as solicited local and systemic adverse events. The primary analysis included all participants who received at least one dose of BNT162b2 and who had at least one efficacy evaluation after baseline. The safety analysis included all participants who received BNT162b2. This study is registered with EudraCT (2021-001978-37) and ClinicalTrials.gov (NCT04860739), and is ongoing. Findings Between April 24 and 30, 2021, 676 individuals were enrolled and randomly assigned to either the intervention group (n=450) or control group (n=226) at five university hospitals in Spain (mean age 44 years [SD 9]; 382 [57%] women and 294 [43%] men). 663 (98%) participants (n=441 intervention, n=222 control) completed the study up to day 14. In the intervention group, geometric mean titres of RBD antibodies increased from 71·46 BAU/mL (95% CI 59·84–85·33) at baseline to 7756·68 BAU/mL (7371·53–8161·96) at day 14 (p

Published
2021

3. Risk Factors for Mortality in Pediatric Postsurgical versus Medical Severe Sepsis

Author

Rajan K. Thakkar, Scott L. Weiss, Julie C. Fitzgerald, Luke Keele, Neal J. Thomas, Vinay M. Nadkarni, Jennifer A. Muszynski, Mark W. Hall, P. Fontela, M. Tucci, M. Dumistrascu, P. Skippen, G. Krahn, E. Bezares, G. Puig, A. Puig-Ramos, R. Garcia, M. Villar, M. Bigham, T. Polanski, S. Latifi, D. Giebner, H. Anthony, J. Hume, A. Galster, L. Linnerud, R. Sanders, G. Hefley, K. Madden, A. Thompson, S. Shein, S. Gertz, Y. Han, T. Williams, A. Hughes-Schalk, H. Chandler, A. Orioles, E. Zielinski, A. Doucette, C. Zebuhr, T. Wilson, C. Dimitriades, J. Ascani, S. Layburn, S. Valley, B. Markowitz, J. Terry, R. Morzov, A. Mcinnes, J. McArthur, K. Woods, K. Murkowski, M. Spaeder, M. Sharron, D. Wheeler, E. Beckman, E. Frank, K. Howard, C. Carroll, S. Nett, D. Jarvis, V. Patel, R. Higgerson, L. Christie, K. Typpo, J. Deschenes, A. Kirby, T. Uhl, K. Rehder, I. Cheifetz, S. Wrenn, K. Kypuros, K. Ackerman, F. Maffei, G. Bloomquist, N. Rizkalla, D. Kimura, S. Shah, C. Tigges, F. Su, C. Barlow, K. Michelson, K. Wolfe, D. Goodman, L. Campbell, L. Sorce, K. Bysani, T. Monjure, M. Evans, B. Totapally, M. Chegondi, C. Rodriguez, J. Frazier, L. Steele, S. Viteri, A. Costarino, N. Thomas, D. Spear, E. Hirshberg, J. Lilley, C. Rowan, C. Rider, J. Kane, J. Zimmerman, C. Greeley, J. Lin, R. Jacobs, M. Parker, K. Culver, L. Loftis, N. Jaimon, M. Goldsworthy, J. Fitzgerald, S. Weiss, V. Nadkarni, J. Bush, M. Diliberto, C. Allen, M. Gessouroun, A. Sapru, T. Lang, M. Alkhouli, S. Kamath, D. Friel, J. Daufeldt, D. Hsing, C. Carlo, S. Pon, J. Scimeme, A. Shaheen, A. Hassinger, H. Qiao, J. Giuliano, J. Tala, D. Vinciguerra, A. Fernandez, R. Carrero, P. Hoyos, J. Jaramillo, A. Posada, L. Izquiierdo, B.E. Piñeres Olave, J. Donado, R. Dalmazzo, S. Rendich, L. Palma, M. Lapadula, C. Acuna, P. Cruces, S. Clement De Clety, M. Dujardin, C. Berghe, S. Renard, J. Zurek, H. Steinherr, K. Mougkou, E. Critselis, M. Di Nardo, S. Picardo, F. Tortora, E. Rossetti, T. Fragasso, P. Cogo, R. Netto, A. Dagys, V. Gurskis, R. Kevalas, C. Neeleman, J. Lemson, C. Luijten, K. Wojciech, I. Pagowska-Klimek, M. Szczepanska, J. Karpe, P. Nunes, H. Almeida, J. Rios, M. Vieira, J. P. Garcia Iniguez, P. Revilla, J. Urbano, J. Lopez-Herce, A. Bustinza, A. Palacios, S. Hofheinz, A. Rodriguez-Nunez, S. Sanagustin, E. Gonzalez, M. Riaza, R. Piaya, P. Soler, E. Esteban, J. Laraudogoitia, C. Monge, V. Herrera, J. Granados, C. Gonzalez, T. Koroglu, E. Ozcelik, P. Baines, A. Plunkett, P. Davis, S. George, S. Tibby, J. Harris, R. Agbeko, R. Lampitt, J. Brierley, M. Peters, A. Jones, T. Dominguez, T. Thiruchelvam, A. Deep, L. Ridley, W. Bowen, R. Levin, I. Macleod, M. Gray, N. Hemat, J. Alexander, S. Ali, J. Pappachan, J. McCorkell, P. Fortune, M. MacDonald, P. Hudnott, Q. Suyun, S. Singhi, K. Nallasamy, R. Lodha, N. Shime, Y. Tabata, O. Saito, T. Ikeyama, T. Kawasaki, L. Lum, A. Abidin, S. Kee, S. Tang, R. Jalil, Y. Guan, L. Yao, K. Lin, J. Ong, A. Salloo, L. Doedens, L. Mathivha, G. Reubenson, S. Moaisi, A. Pentz, R. Green, A. Schibler, S. Erickson, J. McEneiry, D. Long, T. Dorofaeff, M. Coulthard, J. Millar, C. Delzoppo, G. Williams, M. Morritt, N. Watts, J. Beca, C. Sherring, and T. Bushell

Subjects
Male, medicine.medical_specialty, Population, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Prevalence, Logistic regression, Malignancy, Intensive Care Units, Pediatric, Severity of Illness Index, law.invention, Medical sepsis, Sepsis, 03 medical and health sciences, 0302 clinical medicine, Postoperative Complications, law, Risk Factors, Intensive care, Surgical sepsis, medicine, Humans, Pediatric sepsis, Hospital Mortality, Prospective Studies, Mortality, education, Child, education.field_of_study, business.industry, Infant, Length of Stay, medicine.disease, Intensive care unit, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Child, Preschool, Surgical Procedures, Operative, Emergency medicine, 030211 gastroenterology & hepatology, Surgery, Female, Multiple organ dysfunction syndrome, business
Abstract

Item does not contain fulltext BACKGROUND: Sepsis is a leading cause of morbidity and mortality after surgery. Most studies regarding sepsis do not differentiate between patients who have had recent surgery and those without. Few data exist regarding the risk factors for poor outcomes in pediatric postsurgical sepsis. Our hypothesis is pediatric postsurgical, and medical patients with severe sepsis have unique risk factors for mortality. METHODS: Data were extracted from a secondary analysis of an international point prevalence study of pediatric severe sepsis. Sites included 128 pediatric intensive care units from 26 countries. Pediatric patients with severe sepsis were categorized into those who had recent surgery (postsurgical sepsis) versus those that did not (medical sepsis) before sepsis onset. Multivariable logistic regression models were used to determine risk factors for mortality. RESULTS: A total of 556 patients were included: 138 with postsurgical and 418 with medical sepsis. In postsurgical sepsis, older age, admission from the hospital ward, multiple organ dysfunction syndrome at sepsis recognition, and cardiovascular and respiratory comorbidities were independent risk factors for death. In medical sepsis, resource-limited region, hospital-acquired infection, multiple organ dysfunction syndrome at sepsis recognition, higher Pediatric Index of Mortality-3 score, and malignancy were independent risk factors for death. CONCLUSIONS: Pediatric patients with postsurgical sepsis had different risk factors for mortality compared with medical sepsis. This included a higher mortality risk in postsurgical patients presenting to the intensive care unit from the hospital ward. These data suggest an opportunity to develop and test early warning systems specific to pediatric sepsis in the postsurgical population.

Published
2019

4. Does an early mobilization and immediate home-based self-therapy exercise program displace proximal humeral fractures in conservative treatment? Observational study

Author

Fernando Moreno-Mateo, Clarisa Simón-Pérez, Mario Martínez-Zarzuela, Virginia García-Virto, Héctor J. Aguado, Blanca Ariño, Elías Y. Bustinza, Paula S. Ventura, and Miguel Ángel Martín-Ferrero

Subjects
Male, medicine.medical_specialty, medicine.medical_treatment, Conservative Treatment, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Orthopedics and Sports Medicine, Displacement (orthopedic surgery), 030212 general & internal medicine, Early Ambulation, Reduction (orthopedic surgery), Aged, Retrospective Studies, Aged, 80 and over, 030222 orthopedics, biology, business.industry, General Medicine, Middle Aged, biology.organism_classification, Home Care Services, Exercise Therapy, Surgery, Radiography, Self Care, Conservative treatment, Valgus, Diaphysis, Treatment Outcome, medicine.anatomical_structure, Shoulder Fractures, Early mobilization, Female, Observational study, Diaphyses, business, Greater Tuberosity
Abstract

Background Nonoperative management of proximal humeral fractures (PHFs) is the most common treatment, but its functional outcome may improve with early mobilization. In frail osteoporotic patients, quick recovery of prefracture independency is mandatory. This study assessed fracture displacement in PHFs managed with conservative treatment after early mobilization and a home-based self-exercise program. Methods We retrospectively analyzed the radiologic displacement of fracture fragments of PHFs treated conservatively with early mobilization and a home-based self-exercise program. Results Included were 99 patients with 26 one-part, 32 two-part, 32 three-part, and 9 four-part PHFs managed conservatively, followed by early mobilization and a home-based self-exercise program. In the x-ray examinations, the head displaced from varus into valgus 55° ± 23° to 42° ± 22°, in the normal range of anatomic values. The medial hinge displaced from medial to the diaphysis (+1 ± 6 mm) to lateral to the head (−0.6 ± 6 mm). The greater tuberosity displaced cranially from −1 ± 7 mm to 2 ± 5 mm. The Constant score at the 1-year follow-up was 79.69 ± 16.3. Discussion and conclusions The home-based self-exercise program for conservative treatment of PHFs displaces the head-diaphysis angle and the medial hinge toward anatomic reduction, but there is a risk of greater tuberosity cranial displacement. Functional results are fairly good, allowing frail patients to keep on with their independency and life style. Because a large number of patients might need further physiotherapy, the quality of the home-based self-exercises should be supervised.

Published
2018
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5. Quality of life in home-ventilated children and their families

Author

Silvia Rodriguez, Catalina González, Miriam García, Diego Garcia, Olaia Sardón, Arturo Hernández, Ma Ángeles García-Teresa, Mercedes Herranz, Alicia Callejón Callejón, Rafael González, Jesús López-Herce, Amaya Bustinza, Antonio Niño Rodríguez, Alberto Medina, Antonio Salcedo, Mirella Gaboli, Juan D. Toledo, García S, Sarah N. Fernández, Estela Pérez, and Ma Carmen Luna

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Cross-sectional study, media_common.quotation_subject, Neglect, 03 medical and health sciences, Social support, Perceived quality, 0302 clinical medicine, Quality of life, 030225 pediatrics, Health care, medicine, Health Status Indicators, Humans, Family, 030212 general & internal medicine, Child, media_common, business.industry, Infant, Social Support, Mean age, Home Care Services, Respiration, Artificial, Family life, Cross-Sectional Studies, Caregivers, Spain, Child, Preschool, Family medicine, Pediatrics, Perinatology and Child Health, Quality of Life, Physical therapy, Female, business, Attitude to Health
Abstract

HMV (home mechanical ventilation) in children has increased over the last years. The aim of the study was to assess perceived quality of life (QOL) of these children and their families as well as the problems they face in their daily life.We performed a multicentric cross-sectional study using a semi-structured interview about the impact of HMV on families and an evaluation questionnaire about perceived QOL by the patient and their families (pediatric quality of life questionnaire (PedsQL4.0)). We studied 41 subjects (mean age 8.2 years). Global scores in PedsQL questionnaire for subjects (median 61.4), and their parents (median 52.2) were below those of healthy children. 24.4% received medical follow-up at home and 71.8% attended school. Mothers were the main caregivers (75.6%), 48.8% of which were fully dedicated to the care of their child. 71.1% consider economic and healthcare resources insufficient. All families were satisfied with the care they provide to their children, even though it was considered emotionally overwhelming (65.9%). Marital conflict and neglect of siblings appeared in 42.1 and 36% of families, respectively.Perceived QOL by children with HMV and their families is lower than that of healthy children. Parents are happy to care for their children at home, even though it negatively affects family life. What is Known: • The use of home mechanical ventilation (HMV) in children has increased over the last years. • Normal family functioning is usually disrupted by HMV. What is New: • The aim of HMV is to provide a lifestyle similar to that of healthy children, but perceived quality of life by these patients and their parents is low. • Most of the families caring for children on HMV agree that support and resources provided by national health institutions is insufficient.

Published
2017
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6. Infection in Critically Ill Pediatric Patients on Continuous Renal Replacement Therapy

Author

José María Bellón, Ana Isabel Corchado Castillo, Amaya Bustinza, Amelia Sánchez, Sarah N. Fernández, Eva Vierge, Maria José Santiago, and Jesús López-Herce

Subjects
Male, medicine.medical_specialty, Adolescent, Critical Illness, medicine.medical_treatment, 030232 urology & nephrology, Biomedical Engineering, MEDLINE, Medicine (miscellaneous), Bioengineering, Infections, Biomaterials, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Hemofiltration, medicine, Extracorporeal membrane oxygenation, Humans, Prospective Studies, Registries, Renal replacement therapy, Child, Intensive care medicine, Prospective cohort study, business.industry, Incidence, Incidence (epidemiology), Risk of infection, Acute kidney injury, Infant, 030208 emergency & critical care medicine, General Medicine, Length of Stay, Prognosis, medicine.disease, Renal Replacement Therapy, Child, Preschool, Female, business
Abstract

Introduction Continuous renal replacement therapies (CRRT) are frequently used in critically ill children and may increase the risk of infection. However, the incidence, characteristics and prognosis of infection in critically ill children on CRRT have not been studied. Methods Data from a prospective, single-center register of critically ill children treated with CRRT was analyzed. Results 55 children (40% under 1 year of age) were treated with CRRT between June 2008 and January 2012; 43 patients (78.2%) presented 1 or more infections. The most common condition of patients requiring CRRT was heart disease (69%). Infection occurred a median of 11 days after the initiation of CRRT (IQ range: 4 to 21 days). A total of 21 patients (48.8 %) developed 1 infection, 7 (16.2%) developed 2 infections and 15 (34.9%) developed 3 or more infections. The most frequent infection was catheter-related bacteremia, with no differences in catheter location. CRRT duration longer than 4.5 days was the only risk factor for infection. Patients with infection had a longer length of stay (LOS) in the Pediatric Intensive Care Unit (PICU) than patients without it (37.8 vs. 17.6, p = 0.019), but there were no differences in mortality (30.2% vs. 33.3%; p = 0.84). Conclusions Infection rate is high in critically ill children treated with CRRT. More than 4 days of CRRT increases the risk of infection. Infection in these patients entails a longer stay in the PICU but did not increase mortality.

Published
2017
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7. Influence from the type of birth on the content of lactic acid bacteria in neonate meconium

Author

Elizabeth, Paitán-Anticona, Alejandrina, Sotelo-Méndez, Nataly Bernuy, Osorio, Liliana, Sumarriva-Bustinza, and Alejandro Norabuena, Sotelo

Subjects
Meconium, Cesarean Section, Lactobacillales, Pregnancy, Vagina, Infant, Newborn, Parturition, Humans, Female, Delivery, Obstetric
Abstract

The study's objective was to determine the influence of vaginal birth compared to cesarean birth on the content of lactic acid bacteria with probiotic characteristics from newborns. Vaginal and cesarean sec tion meconium samples of lactic acid were evaluated, which were duly enriched, seeded and incubated. The resulting colonies were identified to be subjected to bile salt tolerance, acid pH, and fermentation. A greater development of meconium colonies was obtained in those born vaginally compared to those born by caesarean section (p0.001). A total of 48 strains were isolated, the majority being tolerant to bile salts and acid pH; likewise, the fermentation of lactose in milk was positive. This study supports previous findings that support vaginal birth favors the greatest development of lactic acid bacteria with probiotic characteristics, compared to cesarean birth, and highlights the presence of bacteria of the genus Lactobacillus.El objetivo del estudio fue determinar la influencia del nacimiento por vía vaginal en comparación con el nacimiento por cesárea sobre el contenido de bacterias acidolácticas con características probióticas de los recién nacidos. Se evaluaron muestras de meconio de recién nacidos por vía vaginal y por cesárea que fueron debidamente enriquecidas, sembradas e incubadas. Las colonias resultantes fueron identificadas para ser sometidas a tolerancia de sales biliares, pH ácido y fermentación. Se obtuvo un mayor desa rrollo de colonias en meconio de nacidos por vía vaginal en comparación con los nacidos por cesárea (p0,001). Se aislaron 48 cepas en total, siendo en su gran mayoría tolerantes a sales biliares y pH ácido; asimismo, la fermentación de lactosa en leche fue positiva. Este estudio respalda hallazgos previos que sustentan que el nacimiento por vía vaginal favorece al mayor, desarrollo de bacterias acidolácticas con características probióticas, en comparación con el nacimiento por cesárea, y destaca la presencia de bac terias del género Lactobacillus.

Published
2019

8. The worldwide Antibiotic Resistance and Prescribing in European Children (ARPEC) point prevalence survey: developing hospital-quality indicators of antibiotic prescribing for children

Author

Versporten A1, Bielicki J2, Drapier N1, Sharland M2, Goossens H3, ARPEC project group. Calle GM, Garrahan JP, Clark J, Cooper C, Blyth CC, Francis JR, Alsalman J, Jansens H, Mahieu L, Van Rossom P, Vandewal W, Lepage P, Blumental S, Briquet C, Robbrecht D, Maton P, Gabriels P, Rubic Z, Kovacevic T, Nielsen JP, Petersen JR, Poorisrisak P, Jensen LH, Laan M, Tamm E, Matsinen M, Rummukainen ML, Gajdos V, Olivier R, Le Maréchal F, Martinot A, Dubos F, Lagrée M, Prot-Labarthe S, Lorrot M, Orbach D, Pagava K, Hufnagel M, Knuf M, Schlag SA, Liese J, Renner L, Enimil A, Awunyo M, Syridou G, Spyridis N, Critselis E, Kouni S, Mougkou K, Ladomenou F, Gkentzi D, Iosifidis E, Roilides E, Sahu S, Murki S, Malviya M, Kalavalapalli DB, Singh S, Singhal T, Garg G, Garg P, Kler N, Soltani J, Jafarpour Z, Pouladfar G, Nicolini G, Montagnani C, Galli L, Esposito S, Tenconi R, Lo Vecchio A, Dona' D, Giaquinto C, Borgia E, D'Argenio P, De Luca M, Centenari C, Raka L, Raka D, Omar A, Al-Mousa H, Mozgis D, Sviestina I, Burokiene S, Usonis V, Tavchioska G, Hargadon-Lowe A, Zarb P, Borg MA, González Lozano CA, Zárate Castañon P, Cancino ME, McCullagh B, McCorry A, Gormley C, Al Maskari Z, Al-Jardani A, Pluta M, Rodrigues F, Brett A, Esteves I, Marques L, Ali AlAjmi J, Claudia Cambrea S, Rashed AN, Mubarak Al Azmi AA, Chan SM, Isa MS, Najdenov P, Čižman M, Unuk S, Finlayson H, Dramowski A, Maté-Cano I, Soto B, Calvo C, Santiago B, Saavedra-Lozano J, Bustinza A, Escosa-García L, Ureta N, Lopez-Varela E, Rojo P, Tagarro A, Barrero PT, Rincon-Lopez EM, Abubakar I, Aston J, Heginbothom M, Satodia P, Garbash M, Johnson A, Sharpe D, Barton C, Menson E, Arenas-Lopez S, Luck S, Doerholt K, McMaster P, Caldwell NA, Lunn A, Drysdale SB, Howe R, Scorrer T, Gahleitner F, Gupta R, Nash C, Alexander J, Raman M, Bell E, Rajagopal V, Kohlhoff S, Cox E, Zaoutis T., Mahieu, Ludo, ARPEC Project Grp, ARPEC project group, Versporten, A1, Bielicki, J2, Drapier, N1, Sharland, M2, Goossens, H3, ARPEC project group., Calle GM, Garrahan, Jp, Clark, J, Cooper, C, Blyth, Cc, Francis, Jr, Alsalman, J, Jansens, H, Mahieu, L, Van Rossom, P, Vandewal, W, Lepage, P, Blumental, S, Briquet, C, Robbrecht, D, Maton, P, Gabriels, P, Rubic, Z, Kovacevic, T, Nielsen, Jp, Petersen, Jr, Poorisrisak, P, Jensen, Lh, Laan, M, Tamm, E, Matsinen, M, Rummukainen, Ml, Gajdos, V, Olivier, R, Le Maréchal, F, Martinot, A, Dubos, F, Lagrée, M, Prot-Labarthe, S, Lorrot, M, Orbach, D, Pagava, K, Hufnagel, M, Knuf, M, Schlag, Sa, Liese, J, Renner, L, Enimil, A, Awunyo, M, Syridou, G, Spyridis, N, Critselis, E, Kouni, S, Mougkou, K, Ladomenou, F, Gkentzi, D, Iosifidis, E, Roilides, E, Sahu, S, Murki, S, Malviya, M, Kalavalapalli, Db, Singh, S, Singhal, T, Garg, G, Garg, P, Kler, N, Soltani, J, Jafarpour, Z, Pouladfar, G, Nicolini, G, Montagnani, C, Galli, L, Esposito, S, Tenconi, R, Lo Vecchio, A, Dona', D, Giaquinto, C, Borgia, E, D'Argenio, P, De Luca, M, Centenari, C, Raka, L, Raka, D, Omar, A, Al-Mousa, H, Mozgis, D, Sviestina, I, Burokiene, S, Usonis, V, Tavchioska, G, Hargadon-Lowe, A, Zarb, P, Borg, Ma, González Lozano, Ca, Zárate Castañon, P, Cancino, Me, Mccullagh, B, Mccorry, A, Gormley, C, Al Maskari, Z, Al-Jardani, A, Pluta, M, Rodrigues, F, Brett, A, Esteves, I, Marques, L, Ali AlAjmi, J, Claudia Cambrea, S, Rashed, An, Mubarak Al Azmi, Aa, Chan, Sm, Isa, M, Najdenov, P, Čižman, M, Unuk, S, Finlayson, H, Dramowski, A, Maté-Cano, I, Soto, B, Calvo, C, Santiago, B, Saavedra-Lozano, J, Bustinza, A, Escosa-García, L, Ureta, N, Lopez-Varela, E, Rojo, P, Tagarro, A, Barrero, Pt, Rincon-Lopez, Em, Abubakar, I, Aston, J, Heginbothom, M, Satodia, P, Garbash, M, Johnson, A, Sharpe, D, Barton, C, Menson, E, Arenas-Lopez, S, Luck, S, Doerholt, K, Mcmaster, P, Caldwell, Na, Lunn, A, Drysdale, Sb, Howe, R, Scorrer, T, Gahleitner, F, Gupta, R, Nash, C, Alexander, J, Raman, M, Bell, E, Rajagopal, V, Kohlhoff, S, Cox, E, and Zaoutis, T.

Subjects
0301 basic medicine, Male, Pediatrics, Latin Americans, Cross-sectional study, Prevalence, Psychological intervention, Drug resistance, Global Health, infectious diseases, 0302 clinical medicine, Global health, Medicine, 030212 general & internal medicine, Child, antibiotics, children, Drugs -- Prescribing, Pharmacology. Therapy, Hospitals -- Europe, Drug Resistance, Microbial, Hospitals, Anti-Bacterial Agents, Europe, Child, Preschool, Anti-infective agents, Female, medicine.drug, Microbiology (medical), medicine.medical_specialty, Cefepime, 030106 microbiology, Drug Prescriptions, 03 medical and health sciences, Surgical prophylaxis, pharmacology, pharmacology (medical), Environmental health, Humans, Biology, Quality Indicators, Health Care, business.industry, Health status indicators -- Europe, Infant, Drug Utilization, Cross-Sectional Studies, Health Care Surveys, Human medicine, business
Abstract

Objectives: Previously, web-based tools for cross-sectional antimicrobial point prevalence surveys (PPSs) have been used in adults to develop indicators of quality improvement. We aimed to determine the feasibility of developing similar quality indicators of improved antimicrobial prescribing focusing specifically on hospitalized neonates and children worldwide. Methods: A standardized antimicrobial PPS method was employed. Included were all inpatient children and neonates receiving an antimicrobial at 8:00 am on the day of the PPS. Denominators included the total number of inpatients. A web-based application was used for data entry, validation and reporting. We analysed 2012 data from 226 hospitals (H) in 41 countries (C) from Europe (174H; 24C), Africa (6H; 4C), Asia (25H; 8C), Australia (6H), Latin America (11H; 3C) and North America (4H). Results: Of 17693 admissions, 6499 (36.7%) inpatients received at least one antimicrobial, but this varied considerably between wards and regions. Potential indicators included very high broad-spectrum antibiotic prescribing in children of mainly ceftriaxone (ranked first in Eastern Europe, 31.3%; Asia, 13.0%; Southern Europe, 9.8%), cefepime (ranked third in North America, 7.8%) and meropenem (ranked first in Latin America, 13.1%). The survey identified worryingly high use of critically important antibiotics for hospital-acquired infections in neonates (34.9%; range from 14.2% in Africa to 68.0% in Latin America) compared with children (28.3%; range from 14.5% in Africa to 48.9% in Latin America). Parenteral administration was very common among children in Asia (88%), Latin America (81%) and Europe (67%). Documentation of the reasons for antibiotic prescribing was lowest in Latin America (52%). Prolonged surgical prophylaxis rates ranged from 78% (Europe) to 84% (Latin America). Conclusions: Simple web-based PPS tools provide a feasible method to identify areas for improvement of antibiotic use, to set benchmarks and to monitor future interventions in hospitalized neonates and children. To our knowledge, this study has derived the first global quality indicators for antibiotic use in hospitalized neonates and children., peer-reviewed

Published
2018

9. New or Progressive Multiple Organ Dysfunction Syndrome in Pediatric Severe Sepsis: A Sepsis Phenotype With Higher Morbidity and Mortality

Author

Lin, John C, Spinella, Philip C., Fitzgerald, Julie C., Tucci, Marisa, Bush, Jenny L., Nadkarni, Vinay M., Thomas, Neal J., Weiss, Scott L., Fontela, P., Tucci, M., Dumistrascu, M., Skippen, P., Krahn, G., Bezares, E., Puig, G., Puig Ramos, A., Garcia, R., Villar, M., Bigham, M., Polanski, T., Latifi, S., Giebner, D., Anthony, H., Hume, J., Galster, A., Linnerud, L., Sanders, R., Hefley, G., Madden, K., Thompson, A., Shein, S., Gertz, S., Han, Y., Williams, T., Hughes Schalk, A., Chandler, H., Orioles, A., Zielinski, E., Doucette, A., Zebuhr, C., Wilson, T., Dimitriades, C., Ascani, J., Layburn, S., Valley, S., Markowitz, B., Terry, J., Morzov, R., Mcinnes, A., Mcarthur, J., Woods, K., Murkowski, K., Spaeder, M., Sharron, M., Wheeler, D., Beckman, E., Frank, E., Howard, K., Carroll, C., Nett, S., Jarvis, D., Patel, V., Higgerson, R., Christie, L., Typpo, K., Deschenes, J., Kirby, A., Uhl, T., Rehder, K., Cheifetz, I., Wrenn, S., Kypuros, K., Ackerman, K., Maffei, F., Bloomquist, G., Rizkalla, N., Kimura, D., Shah, S., Tigges, C., Su, F., Barlow, C., Michelson, K., Wolfe, K., Goodman, D., Campbell, L., Sorce, L., Bysani, K., Monjure, T., Evans, M., Totapally, B., Chegondi, M., Rodriguez, C., Frazier, J., Steele, L., Viteri, S., Costarino, A., Thomas, N., Spear, D., Hirshberg, E., Lilley, J., Rowan, C., Rider, C., Kane, J., Zimmerman, J., Greeley, C., Lin, J., Jacobs, R., Parker, M., Culver, K., Loftis, L., Jaimon, N., Goldsworthy, M., Diliberto, M., Alen, C., Gessouroun, M., Sapru, A., Lang, T., Alkhouli, M., Kamath, S., Friel, D., Daufeldt, J., Hsing, D., Carlo, C., Pon, S., Scimeme, J., Shaheen, A., Hassinger, A., Qiao, H., Giuliano, J., Tala, J., Vinciguerra, D., Fernandez, A., Carrero, R., Hoyos, P., Jaramillo, J., Posada, A., Izquiierdo, L., Pineres Olave, B. E., Donado, J., Dalmazzo, R., Rendich, S., Palma, L., Lapadula, M., Acuna, C., Cruces, P., De Clety, S. Clement, Dujardin, M., Berghe, C., Renard, S., Zurek, J., Steinherr, H., Mougkou, K., Critselis, E., Di Nardo, M., Picardo, S., Tortora, F., Rossetti, E., Fragasso, T., Cogo, Paola, Netto, R., Dagys, A., Gurskis, V., Kevalas, R., Neeleman, C., Lemson, J., Luijten, C., Wojciech, K., Pagowska Klimek, I., Szczepanska, M., Karpe, J., Nunes, P., Almeida, H., Rios, J., Vieira, M., Garcia Iniguez, J. P., Revilla, P., Urbano, J., Lopez Herce, J., Bustinza, A., Cuesta, A., Hofheinz, S., Rodriguez Nunez, A., Sanagustin, S., Gonzalez, E., Riaza, M., Piaya, R., Soler, P., Esteban, E., Laraudogoitia, J., Monge, C., Herrera, V., Granados, J., Gonzalez, C., Koroglu, T., Ozcelik, E., Baines, P., Plunkett, A., Davis, P., George, S., Tibby, S., Harris, J., Agbeko, R., Lampitt, R., Brierley, J., Peters, M., Jones, A., Dominguez, T., Thiruchelvam, T., Deep, A., Ridley, L., Bowen, W., Levin, R., Macleod, I., Gray, M., Hemat, N., Alexander, J., Ali, S., Pappachan, J., Mccorkell, J., Fortune, P., Macdonald, M., Hudnott, P., Suyun, Q., Singhi, S., Nallasamy, K., Lodha, R., Shime, N., Tabata, Y., Saito, O., Ikeyama, T., Kawasaki, T., Lum, L., Abidin, A., Kee, S., Tang, S., Jalil, R., Guan, Y., Yao, L., Lin, K., Ong, J., Salloo, A., Doedens, L., Mathivha, L., Reubenson, G., Moaisi, S., Pentz, A., Green, R., Schibler, A., Erickson, S., Mceneiry, J., Long, D., Dorofaeff, T., Coulthard, M., Millar, J., Delzoppo, C., Williams, G., Morritt, M., Watts, N., Beca, J., Sherring, C., and Bushell, T.

Subjects
Male, medicine.medical_specialty, Adolescent, Cross-sectional study, Multiple Organ Failure, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Prevalence, children, epidemiology, multiple organ dysfunction syndrome, severe sepsis, Pediatrics, Perinatology and Child Health, Critical Care and Intensive Care Medicine, 030204 cardiovascular system & hematology, Global Health, Intensive Care Units, Pediatric, Pediatrics, Article, Sepsis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Epidemiology, medicine, Humans, Hospital Mortality, Prospective Studies, 030212 general & internal medicine, Child, Intensive care medicine, Prospective cohort study, Septic shock, business.industry, Infant, Newborn, Infant, Perinatology and Child Health, Prognosis, medicine.disease, Clinical trial, Cross-Sectional Studies, Phenotype, Child, Preschool, Disease Progression, Female, Multiple organ dysfunction syndrome, business
Abstract

Copyright © 2016 by the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.Objectives: To describe the epidemiology, morbidity, and mortality of new or progressive multiple organ dysfunction syndrome in children with severe sepsis. Design: Secondary analysis of a prospective, cross-sectional, point prevalence study. Setting: International, multicenter PICUs. Patients: Pediatric patients with severe sepsis identified on five separate days over a 1-year period. Interventions: None. Measurements and Main Results: Of 567 patients from 128 PICUs in 26 countries enrolled, 384 (68%) developed multiple organ dysfunction syndrome within 7 days of severe sepsis recognition. Three hundred twenty-seven had multiple organ dysfunction syndrome on the day of sepsis recognition. Ninety-one of these patients developed progressive multiple organ dysfunction syndrome, whereas an additional 57 patients subsequently developed new multiple organ dysfunction syndrome, yielding a total proportion with severe sepsis-associated new or progressive multiple organ dysfunction syndrome of 26%. Hospital mortality in patients with progressive multiple organ dysfunction syndrome was 51% compared with patients with new multiple organ dysfunction syndrome (28%) and those with single-organ dysfunction without multiple organ dysfunction syndrome (10%) (p < 0.001). Survivors of new or progressive multiple organ dysfunction syndrome also had a higher frequency of moderate to severe disability defined as a Pediatric Overall Performance Category score of greater than or equal to 3 and an increase of greater than or equal to 1 from baseline: 22% versus 29% versus 11% for progressive, new, and no multiple organ dysfunction syndrome, respectively (p < 0.001). Conclusions: Development of new or progressive multiple organ dysfunction syndrome is common (26%) in severe sepsis and is associated with a higher risk of morbidity and mortality than severe sepsis without new or progressive multiple organ dysfunction syndrome. Our data support the use of new or progressive multiple organ dysfunction syndrome as an important outcome in trials of pediatric severe sepsis although efforts are needed to validate whether reducing new or progressive multiple organ dysfunction syndrome leads to improvements in more definitive morbidity and mortality endpoints.

Published
2017
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10. High rates of prescribing antimicrobials for prophylaxis in children and neonates : results from the antibiotic resistance and prescribing in European children point prevalence survey

Author

Hufnagel, Markus, Versporten, Ann, Bielicki, Julia, Drapier, Nico, Sharland, Mike, Goossens, Herman, Sherland, Mike, Maria Calle, Graciela, Clark, Julia, Cooper, Celia, Blyth, Christopher C., Francis, Joshua Reginald, Alsalman, Jameela, Jansen, Hilde, Mahieu, Ludo, Van Rossom, Paul, Vandewal, Wouter, Lepage, Philippe, Blumental, Sophie, Briquet, Caroline, Robbrecht, Dirk, Maton, Pierre, Gabriels, Patrick, Rubic, Zana, Kovacevic, Tanja, Nielsen, Jens Peter, Petersen, Jes Reinholdt, Poorisrisak, Porntiva, Jensen, Lise Heilmann, Laan, Mari, Tamm, Eda, Matsinen, Maire, Rummukainen, Maija-Liisa, Gajdos, Vincent, Olivier, Romain, Le Marechal, Flore, Martinot, Alain, Dubos, Francois, Lagree, Marion, Prot-Labarthe, Sonia, Lorrot, Mathie, Orbach, Daniel, Pagava, Karaman, Knuf, Markus, Schlag, Stephanie A. A., Liese, Johannes, Renner, Lorna, Enimil, Anthony, Awunyo, Marah, Syridou, Garyfallia, Spyridis, Nikos, Critselis, Elena, Kouni, Sofia, Mougkou, Katerina, Ladomenou, Fani, Gkentzi, Despoina, Iosifidis, Elias, Roilides, Emmanuel, Sahu, Suneeta, Murki, Srinivas, Malviya, Manoj, Kalavalapalli, Durga Bhavani, Singh, Sanjeev, Singhal, Tanu, Garg, Garima, Garg, Pankaj, Kler, Neelam, Soltani, Jafar, Jafarpour, Zahra, Pouladfar, Gholamreza, Nicolini, Giangiacomo, Montagnani, Carlotta, Galli, Luisa, Esposito, Susanna, Tenconi, Rossana, Lo Vecchio, Andrea, Dona, Daniele, Giaquinto, Carlo, Borgia, Eleonora, D'Argenio, Patrizia, De Luca, Maia, Centenari, Chiara, Raka, Lul, Raka, Denis, Omar, Abeer, Al-Mousa, Haifaa, Mozgis, Dzintars, Sviestina, Inese, Burokiene, Sigita, Usonis, Vytautas, Tavchioska, Gabriela, Hargadon-Lowe, Antonia, Zarb, Peter, Borg, Michael A., Gonzalez Lozano, Carlos Agustin, Zarate Castanon, Patricia, Cancino, Martha E., McCullagh, Bernadette, McCorry, Ann, Gormley, Cairine, Al Maskari, Zaina, Al-Jardani, Amina, Pluta, Magdalena, Rodrigues, Fernanda, Brett, Ana, Esteves, Isabel, Marques, Laura, AlAjmi, Jameela Ali, Cambrea, Simona Claudia, Rashed, Asia N., Al Azmi, Aeshah Abdu Mubarak, Chan, Si Min, Isa, Mas Suhaila, Najdenov, Peter, Cizman, Milan, Unuk, Sibila, Finlayson, Heather, Dramowski, Angela, Mate-Cano, Irene, Soto, Beatriz, Calvo, Cristina, Santiago, Begona, Saavedra-Lozano, Jesus, Bustinza, Amaya, Escosa-Garcia, Luis, Ureta, Noelia, Lopez-Varela, Elisa, Rojo, Pablo, Tagarro, Alfredo, Terol Barrero, Pedro, Maria Rincon-Lopez, Elena, Abubakar, Ismaela, Aston, Jeff, Patel, Mitul, Russell, Alison Bedford, Heginbothom, Maggie, Satodia, Prakash, Garbash, Mehdi, Johnson, Alison, Sharpe, David, Barton, Christopher, Menson, Esse, Arenas-Lopez, Sara, Luck, Suzanne, Doerholt, Katja, McMaster, Paddy, Caldwell, Neil A., Lunn, Andrew, Drysdale, Simon B., Howe, Rachel, Scorrer, Tim, Gahleitner, Florian, Gupta, Richa, Nash, Clare, Alexander, John, Raman, Mala, Bell, Emily, Rajagopal, Veena, Kohlhoff, Stephan, Cox, Elaine, Nichols, Kristen, Zaoutis, Theoklis, Mahieu, Ludo, and ARPEC Project Grp

Subjects
antimicrobials, inpatients, pediatrics, point-prevalence survey, prophylactic prescribing, Point-prevalence survey, Male, medicine.medical_specialty, medicine.drug_class, Antibiotics, Pediatrics, Drug Prescriptions, 03 medical and health sciences, Surgical prophylaxis, 0302 clinical medicine, Pharmacotherapy, Antibiotic resistance, Anti-Infective Agents, 030225 pediatrics, Internal medicine, medicine, Prevalence, Humans, Medical prescription, Antimicrobials, Inpatients, Prophylactic prescribing, 0303 health sciences, 030306 microbiology, business.industry, Pharmacology. Therapy, Infant, Newborn, Drug Resistance, Microbial, General Medicine, Antibiotic Prophylaxis, Hospitals, Pediatric, Prophylactic Surgery, Drug Utilization, Anti-Bacterial Agents, Hospitalization, Infectious Diseases, Cross-Sectional Studies, Relative risk, Health Care Surveys, Pediatrics, Perinatology and Child Health, Chemoprophylaxis, Drug Therapy, Combination, Female, Human medicine, business, Child, Hospitalized
Abstract

Background: This study was conducted to assess the variation in prescription practices for systemic antimicrobial agents used for prophylaxis among pediatric patients hospitalized in 41 countries worldwide.Methods: Using the standardized Antibiotic Resistance and Prescribing in European Children Point Prevalence Survey protocol, a cross-sectional point-prevalence survey was conducted at 226 pediatric hospitals in 41 countries from October 1 to November 30, 2012.Results: Overall, 17693 pediatric patients were surveyed and 36.7% of them received antibiotics (n = 6499). Of 6818 inpatient children, 2242 (32.9%) received at least 1 antimicrobial for prophylactic use. Of 11899 prescriptions for antimicrobials, 3400 (28.6%) were provided for prophylactic use. Prophylaxis for medical diseases was the indication in 73.4% of cases (2495 of 3400), whereas 26.6% of prescriptions were for surgical diseases (905 of 3400). In approximately half the cases (48.7% [1656 of 3400]), a combination of 2 or more antimicrobials was prescribed. The use of broad-spectrum antibiotics (BSAs), which included tetracyclines, macrolides, lincosamides, and sulfonamides/trimethoprim, was high (51.8% [1761 of 3400]). Broad-spectrum antibiotic use for medical prophylaxis was more common in Asia (risk ratio [RR], 1.322; 95% confidence interval [CI], 1.202-1.653) and more restricted in Australia (RR, 0.619; 95% CI, 0.521-0.736). Prescription of BSA for surgical prophylaxis also varied according to United Nations region. Finally, a high percentage of surgical patients (79.7% [721 of 905]) received their prophylaxis for longer than 1 day.Conclusions: A high proportion of hospitalized children received prophylactic BSAs. This represents a clear target for quality improvement. Collectively speaking, it is critical to reduce total prophylactic prescribing, BSA use, and prolonged prescription.

Published
2019
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11. Case report: serratus intercostal plane block/BRILMA and sedation for mastectomy in a high risk patient

Author

R, Sanllorente-Sebastián, J M, de Vicente-Lorenzo, F J, Mediavilla-Herrera, S, Gutiérrez-García, I S, Alario-Poza, and Z, Bustinza-Beaskoetxea

Subjects
Aged, 80 and over, Axilla, Humans, Breast Neoplasms, Female, Intercostal Nerves, Nerve Block, Deep Sedation, Risk Assessment, Mastectomy
Abstract

Breast cancer surgery can benefit from regional anaesthesia techniques, which can be used as a sole anaesthetic procedure in some cases where risk for general anaesthesia is high. Regional anaesthesia allows early recovery, reduces postoperative opioid and non opioid analgesics consumption and helps early home discharge, reducing thus costs. We present a case of an 87-year-old woman with multiple comorbidities who underwent breast cancer surgery. The patient was successfully surgically treated under serratus intercostal plane block anaesthesia. We discuss the use and benefits of the serratus intercostal plane block in thoracic procedures.

Published
2018

12. Primary hyperparathyroidism in pregnancy treated with cinacalcet: a case report

Author

Ana Biain Ciganda, Zuriñe Bustinza Beaskoetxea, Enrique Ruiz Pérez, Javier Martínez Guisasola, Mónica Robles Fradejas, María de Los Angeles Martín Macías, Gonzalo Fernández Matia, and Irene Gonzalo García

Subjects
Adenoma, Adult, medicine.medical_specialty, Cinacalcet, endocrine system diseases, 030209 endocrinology & metabolism, Gestational Age, Calcimimetic Agents, Hyperthyroidism, Elevated serum, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Internal medicine, medicine, Humans, 030219 obstetrics & reproductive medicine, business.industry, Cesarean Section, Infant, Newborn, Obstetrics and Gynecology, Gestational age, Ionised calcium, Infant, Low Birth Weight, medicine.disease, Pregnancy Complications, Elevated serum calcium, Low birth weight, Endocrinology, Parathyroid Neoplasms, Hypercalcemia, Female, medicine.symptom, business, Primary hyperparathyroidism, medicine.drug
Abstract

The prevalence of primary hyperparathyroidism (PHPT) is about 0.1–0.4%. It consists of an elevated serum calcium level, or elevated serum ionised calcium with an inappropriately normal, or more com...

Published
2017

13. Excess Mortality in Istanbul during Extreme Heat Waves between 2013 and 2017

Author

Ümit Şahin, Hüseyin Küçükali, Beril Kara, Günay Can, Marjolaine Dubé, Özden Aksu Sayman, Barış İnan, Ray Bustinza, Uğurcan Sayılı, Pierre Gosselin, Hazal Cansu Acar, Umur Güven, Germain Lebel, and İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

Subjects
Male, Hot Temperature, Turkey, 010504 meteorology & atmospheric sciences, Health, Toxicology and Mutagenesis, lcsh:Medicine, Poison control, Cardiovascular, 01 natural sciences, high temperature, 0302 clinical medicine, Epidemiology, 030212 general & internal medicine, Istanbul, Child, Cause of death, High Temperature, cardiovascular, Mortality rate, Middle Aged, Geography, Child, Preschool, Female, Public Health, Seasons, Adult, heat wave, medicine.medical_specialty, Adolescent, Climate Change, Climate change, Article, Young Adult, 03 medical and health sciences, Injury prevention, medicine, Humans, Cities, Mortality, Aged, 0105 earth and related environmental sciences, Heat Wave, lcsh:R, Global warming, Public Health, Environmental and Occupational Health, Extreme Heat, Infant, mortality, Intensity (heat transfer), Demography
Abstract

Sayili, Ugurcan/0000-0002-5925-2128; Acar, Hazal Cansu/0000-0001-9244-3818; Kara, Beril/0000-0001-5296-0001; CAN, GUNAY/0000-0001-5815-6700; Kucukali, Huseyin/0000-0003-1669-3107 WOS:000502057400045 PubMed ID: 31703402 Heat waves are one of the most common direct impacts of anthropogenic climate change and excess mortality their most apparent impact. While Turkey has experienced an increase in heat wave episodes between 1971 and 2016, no epidemiological studies have examined their potential impacts on public health so far. In this study excess mortality in Istanbul attributable to extreme heat wave episodes between 2013 and 2017 is presented. Total excess deaths were calculated using mortality rates across different categories, including age, sex, and cause of death. The analysis shows that three extreme heat waves in the summer months of 2015, 2016, and 2017, which covered 14 days in total, significantly increased the mortality rate and caused 419 excess deaths in 23 days of exposure. As climate simulations show that Turkey is one of the most vulnerable countries in the Europe region to the increased intensity of heat waves until the end of the 21st century, further studies about increased mortality and morbidity risks due to heat waves in Istanbul and other cities, as well as intervention studies, are necessary. Scientific Research Projects Coordination Unit of Istanbul University-Cerrahpasa [BYP-2018-31650] This work was supported by the Scientific Research Projects Coordination Unit of Istanbul University-Cerrahpasa. Project number: BYP-2018-31650.

Published
2019
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14. Infections, antibiotic treatment and mortality in patients admitted to ICUs in countries considered to have high levels of antibiotic resistance compared to those with low levels

Author

Michalopoulos, A., Groeneveld, J., Lev, A., Sprung, C., Vakalos, A., Kotanidou, A., Zakynthinos, E., Filos, K., Pneumatikos, I., Moraiti, A., Clouva-molyvdas, P., Mandragos, K., Kyriazopoulos, G., Karampela, I., Koulenti, D., Myrianthefs, P., Ioannidou, E., Mouloudi, E., Chalkiadaki, A., Bitzani, M., Routsi, C., Armaganidis, A., Sofianos, E., Harjola, V., Berezowicz, P., Jacobsen, K., Espersen, K., Fogh, B., Betsch, H., Vincent, Jean-Louis, Vanhems, Philippe, Walther, Sten M., Sakr, Yasser, Rello, Jordi, Leone, Marc, Pickkers, P., Lipman, Jeffrey, Holmbom, Martin, Antonelli, Massimo, Hanberger, Håkan, Kocak, S., Ulger, F., Guven, H., Turkmen, A., Dogruer, K., Adanir, T., Demirkiran, O., Tugrul, S., Cakar, N., Akinci, I., Uzel, N., Togal, T., Topeli, A., Turkoglu, M., Guven, M., Akan, M., Bodur, H., Bosnak, M., Kizilkaya, M., Ozgencil, E., Kaya, A., Fistikci, H., Ates, C., Atalan, K., Jacobson, S., Owall, A., Kokinsky, E., Rudenstam, J., Häggqvist, J., Hulting, J., Sellgren, J., Arvidsson, S., Schindele, M., Hammarskjöld, F., Friberg, H., Petersson, J., Paulsson, A., Lindström, I., Stiernstrom, H., Peterzén, B., Blomqvist, H., Petersen, P., Soto Ibáñez, J., González, J., Izura, J., Corcobado Márquez, C., Rico-Feijoo, J., Sierra, R., Rello, J., Posada, P., Briones Lopez, M., Jara, R., Luis, V., Maria Jesus, H., de la Torre-Prados, M., Felices, F., Sanchez Garcia, M., Macias Pingarrón, J., Garcia-Fuentes, C., Cerdá, E., Serrano, N., Barcenilla-Gaite, F., Sirvent, J., Montejo González, J., Guerrero Gomez, F., Amador Amerigo, J., Borges, M., Sánchez-Olmedo, J., López Ciudad, V., Moreno, M., Esteban, E., Vallés, J., De Rojas Román, J., Yuste, I., Ugarte Peña, P., Sole-violán, J., Bustinza, A., Albaya, A., Latour-Perez, J., Navarro, J., Garcia, F., Martin Delgado, M., Rovira, A., Ramos-gómez, L., Garro, P., Silva, J., Iglesias, L., María Jesús, L., Pueyo, L., Lorente, C., Martinon-Torres, F., Aguilar, G., Martinez-Sagasti, F., Blesa Malpica, A., Valencia, M., Zavala, E., Bustamante Munguira, E., Arribas, M., Insausti, J., Vegas Pinto, R., Bocero, L., Estella, A., Esteban-Reboll, F., Lopez Camps, V., Antón Caraballo, E., Muñoz, E., Olaechea, P., Escriba, A., Santos, I., Campiñez, Burgueño., Moreira, P., Pizzamiglio, M., Conti, V., Kahveci, A., Nydahl, A., Lind, D., Caballero Zirena, A., Guerrero, F., Palomar, M., Einar, V., Agvald-Ohman, C., Wyon, N., Johansson, L., Gil, B., Mariscal, F., Galvan, B., Espinosa, E., Lesmes Serrano, A., Mesalles Sanjuan, E., Manzano Ramirez, A., Quintana Tort-Martorell, E., Monton Dito, J., Ibañez, A., Garcia del Valle, S., Alemparte-Pardavila, E., Monedero, P., Naveira-Abeigón, E., Jorda, R., Alvarez, M., Rubio, O., Bouw, M., Afonso, Susana, Matos, Ricardo, Carneiro, A., Amaro, P., Ribeiro, R., Paiva, J., Galdos-Anuncibay, P., Nieto, M., Ruiz, J., Perez Calvo, C., Mañez, R., França, C., Moreno, R., Dias, C., Sousa, A., Rezende, A., Mourão, L., Ponce, P., Oliveira, T., Esteves, F., Den Boer, S., Bakker, J., Van Berkel, G., Borg, M., Gullo, A., Gianesello, L., Martinelli, L., Antonelli, M., Bassetti, M., Telo, L., Alves, M., Almeida, E., Leite, A., Pádua, F., Costa, H., Póvoa, P., Lopes, V., Carmo, E., Febra, C., Martins, A., Castelo-Branco Sousa, M., Bártolo, A., Junker, A., Erno, P., Klepstad, P., Loevstad, R., Bergmans, D., Rodgers, M., Pham, C., Speelberg, B., Wesselink, R., Ammann, J., Vet, J., Gille, A., Kuiper, M., Kieft, H., Blom, H., Vogelaar, J., Corsten, S., Ten Cate, J., Rosseel, P., De Pont, A., Della Rocca, G., Biancofiore, G., Morelli, A., Ranieri, MV., Cotogni, P., Alessandro, D., Clementi, S., Ferraro, F., Giuseppe, N., Sforza, D., Castiglione, G., Marino, G., Fumagalli, R., Santagostino, G., De Negri, P., De Gasperi, A., Oggioni, R., Conte, V., Sicignano, A., Marri, I., Locicero, M., Guadagnucci, A., Chieregato, A., Fiore, G., Sorbara, C., Munch, C., Ruatti, H., Lorella, P., Borrelli, F., Panella, L., De Blasi, R., Ceriani, R., Colonna, S., Abbruzzese, C., Rosano, A., Caspani, M., Emmi, V., Stelian, E., Scolz, S., Guberti, A., Margarit, O., Giarratano, A., Rosi, R., Marzorati, S., De blasio, E., Minerva, M., Petrucci, N., Mangani, V., Lazzero, A., Sapuppo, M., Cecilia, P., Borelli, M., Greco, S., Vesconi, S., Sofer, S., Cohen, J., Kishinevsky, E., Selçuk Üniversitesi, Hanberger, H, Antonelli, M, Holmbom, M, Lipman, J, Pickkers, P, Leone, M, Rello, J, Sakr, Y, Walther, S, Vanhems, P, Vincent, J, Betsch, H, Fogh, B, Espersen, K, Jacobsen, K, Berezowicz, P, Harjola, V, Sofianos, E, Armaganidis, A, Routsi, C, Bitzani, M, Chalkiadaki, A, Michalopoulos, A, Mouloudi, E, Ioannidou, E, Myrianthefs, P, Koulenti, D, Karampela, I, Kyriazopoulos, G, Mandragos, K, Clouva molyvdas, P, Moraiti, A, Pneumatikos, I, Filos, K, Zakynthinos, E, Kotanidou, A, Vakalos, A, Sprung, C, Lev, A, Kishinevsky, E, Cohen, J, Sofer, S, Vesconi, S, Greco, S, Borelli, M, Cecilia, P, Sapuppo, M, Lazzero, A, Mangani, V, Petrucci, N, Minerva, M, De blasio, E, Marzorati, S, Rosi, R, Giarratano, A, Margarit, O, Guberti, A, Scolz, S, Stelian, E, Emmi, V, Caspani, M, Rosano, A, Abbruzzese, C, Colonna, S, Ceriani, R, De Blasi, R, Panella, L, Borrelli, F, Lorella, P, Ruatti, H, Munch, C, Sorbara, C, Fiore, G, Chieregato, A, Conti, V, Guadagnucci, A, Pizzamiglio, M, Locicero, M, Marri, I, Sicignano, A, Conte, V, Oggioni, R, De Gasperi, A, De Negri, P, Santagostino, G, Fumagalli, R, Marino, G, Castiglione, G, Sforza, D, Giuseppe, N, Bassetti, M, Ferraro, F, Clementi, S, Alessandro, D, Cotogni, P, Ranieri, M, Martinelli, L, Gianesello, L, Gullo, A, Morelli, A, Biancofiore, G, Della Rocca, G, Borg, M, De Pont, A, Rosseel, P, Ten Cate, J, Van Berkel, G, Corsten, S, Bakker, J, Vogelaar, J, Blom, H, Kieft, H, Kuiper, M, Gille, A, Vet, J, Ammann, J, Den Boer, S, Wesselink, R, Speelberg, B, Pham, C, Rodgers, M, Bergmans, D, Groeneveld, J, Loevstad, R, Klepstad, P, Erno, P, Junker, A, Bártolo, A, Castelo Branco Sousa, M, Esteves, F, Martins, A, Oliveira, T, Ponce, P, Mourão, L, Febra, C, Carmo, E, Lopes, V, Póvoa, P, Rezende, A, Costa, H, Moreira, P, Pádua, F, Leite, A, Almeida, E, Alves, M, Sousa, A, Telo, L, Dias, C, Paiva, J, Ribeiro, R, Amaro, P, Carneiro, A, Moreno, R, Matos, R, Afonso, S, Bouw, M, França, C, Rubio, O, Mañez, R, Campiñez, B, Alvarez, M, Jorda, R, Naveira Abeigón, E, Monedero, P, Alemparte Pardavila, E, Garcia del Valle, S, Perez Calvo, C, Palomar, M, Guerrero, F, Caballero Zirena, A, Arribas, M, Bustamante Munguira, E, Ruiz, J, Iglesias, L, Zavala, E, Valencia, M, Blesa Malpica, A, Martinez Sagasti, F, Nieto, M, Aguilar, G, Martinon Torres, F, Lorente, C, Insausti, J, Vegas Pinto, R, Santos, I, Escriba, A, Olaechea, P, Muñoz, E, Antón Caraballo, E, Galdos Anuncibay, P, Lopez Camps, V, Esteban Reboll, F, Estella, A, Bocero, L, Ibañez, A, Pueyo, L, María Jesús, L, Silva, J, Garro, P, Ramos gómez, L, Rovira, A, Martin Delgado, M, Monton Dito, J, Garcia, F, Navarro, J, Latour Perez, J, Albaya, A, Bustinza, A, Sole violán, J, Ugarte Peña, P, Yuste, I, De Rojas Román, J, Vallés, J, Esteban, E, Quintana Tort Martorell, E, Moreno, M, López Ciudad, V, Manzano Ramirez, A, Sánchez Olmedo, J, Borges, M, Amador Amerigo, J, Guerrero Gomez, F, Montejo González, J, Sirvent, J, Mesalles Sanjuan, E, Barcenilla Gaite, F, Serrano, N, Cerdá, E, Lesmes Serrano, A, Garcia Fuentes, C, Macias Pingarrón, J, Espinosa, E, Sanchez Garcia, M, Felices, F, de la Torre Prados, M, Maria Jesus, H, Luis, V, Jara, R, Briones Lopez, M, Posada, P, Galvan, B, Mariscal, F, Gil, B, Sierra, R, Rico Feijoo, J, Corcobado Márquez, C, Izura, J, González, J, Soto Ibáñez, J, Petersen, P, Johansson, L, Blomqvist, H, Peterzén, B, Wyon, N, Stiernstrom, H, Lindström, I, Paulsson, A, Agvald Ohman, C, Petersson, J, Friberg, H, Einar, V, Hammarskjöld, F, Schindele, M, Arvidsson, S, Sellgren, J, Hulting, J, Häggqvist, J, Rudenstam, J, Lind, D, Kokinsky, E, Owall, A, Jacobson, S, Nydahl, A, Atalan, K, Ates, C, Kahveci, A, Fistikci, H, Kaya, A, Ozgencil, E, Kizilkaya, M, Bosnak, M, Bodur, H, Akan, M, Guven, M, Turkoglu, M, Topeli, A, Togal, T, Uzel, N, Akinci, I, Cakar, N, Tugrul, S, Demirkiran, O, Adanir, T, Dogruer, K, Turkmen, A, Guven, H, Ulger, F, Kocak, S, İç Hastalıkları, and OMÜ

Subjects
Male, Pediatrics, Cross-sectional study, health care facilities, manpower, and services, Antibiotics, Resistance, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Prevalence, Drug Resistance, law.invention, Medical microbiology, law, Pathologie maladies infectieuses, Antibiotic, Critically ill, Infection, Aged, Anti-Bacterial Agents, Bacteria, Bacterial Infections, Cross-Sectional Studies, Europe, Female, Hospitalization, Humans, Middle Aged, Treatment Outcome, Drug Resistance, Bacterial, Intensive Care Units, Infectious Diseases, Critically ill -- Care, Mortality rate, Bacterial, Intensive care unit, SAPS II, Beta lactam antibiotics, Research Article, Human, medicine.medical_specialty, medicine.drug_class, Intensive Care Unit, Bacterial Infection, Antibiotic resistance, Internal medicine, Settore MED/41 - ANESTESIOLOGIA, Anti-Bacterial Agent, medicine, Cross-Sectional Studie, business.industry, Aminopeptidases -- Analysis, Klinisk medicin, Polypeptides, Bacterial diseases -- Diagnosis, Antibiotics -- Therapeutic use, Clinical Medicine, business
Abstract

Background: Antimicrobial resistance is an increasing concern in ICUs worldwide. Infection with an antibiotic resistant (ABR) strain of an organism is associated with greater mortality than infection with the non-resistant strain, but there are few data assessing whether being admitted to an intensive care unit (ICU) with high levels of antimicrobial resistance is associated with a worse outcome than being admitted to an ICU with low rates of resistance. The aim of this study was, therefore, to compare the characteristics of infections and antibiotic treatments and patient outcomes in patients admitted to ICUs in countries considered as having high levels of antibiotic resistance and those admitted to ICUs in countries considered as having low levels of antibiotic resistance.Methods: Data from the large, international EPIC II one-day point prevalence study on infections in patients hospitalized in ICUs were used. For the current study, we compared the data obtained from patients from two groups of countries: countries with reported MRSA rates of ≥ 25% (highABR: Greece, Israel, Italy, Malta, Portugal, Spain, and Turkey) and countries with MRSA rates of < 5% (lowABR: Denmark, Finland, Netherlands, Norway, and Sweden).Results: On the study day, 1187/2204 (53.9%) patients in the HighABR ICUs were infected and 255/558 (45.7%) in the LowABR ICUs (P < 0.01). Patients in the HighABR ICUs were more severely ill than those in the LowABR ICUs, as reflected by a higher SAPS II score (35.6 vs 32.7, P < 0.05) and had longer median ICU (12 days vs 5 days) and hospital (24 days vs 16 days) lengths of stay. They also had higher crude ICU (20.0% vs 15.4%) and hospital (27.0% vs 21.5%) mortality rates (both P < 0.05). However, after multivariable adjustment and matched pair analysis there were no differences in ICU or hospital mortality rates between High or LowABR ICU patients overall or among those with infections.Conclusions: Being hospitalized in an ICU in a region with high levels of antimicrobial resistance is not associated per se with a worse outcome., 0, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2014

15. Comparison of Pediatric Severe Sepsis Managed in U.S. and European ICUs

Author

Giuliano, John S, Markovitz, Barry P., Brierley, Joe, Levin, Richard, Williams, Gary, Lum, Lucy Chai See, Dorofaeff, Tavey, Cruces, Pablo, Bush, Jenny L., Keele, Luke, Nadkarni, Vinay M., Thomas, Neal J., Fitzgerald, Julie C., Weiss, Scott L., Fontela, P., Tucci, M., Dumistrascu, M., Skippen, P., Krahn, G., Bezares, E., Puig, G., Puig Ramos, A., Garcia, R., Villar, M., Bigham, M., Polanski, T., Latifi, S., Giebner, D., Anthony, H., Hume, J., Galster, A., Linnerud, L., Sanders, R., Hefley, G., Madden, K., Thompson, A., Shein, S., Gertz, S., Han, Y., Williams, T., Hughes Schalk, A., Chandler, H., Orioles, A., Zielinski, E., Doucette, A., Zebuhr, C., Wilson, T., Dimitriades, C., Ascani, J., Layburn, S., Valley, S., Markowitz, B., Terry, J., Morzov, R., Mcinnes, A., Mcarthur, J., Woods, K., Murkowski, K., Spaeder, M., Sharron, M., Wheeler, D., Beckman, E., Frank, E., Howard, K., Carroll, C., Nett, S., Jarvis, D., Patel, V., Higgerson, R., Christie, L., Typpo, K., Deschenes, J., Kirby, A., Uhl, T., Rehder, K., Cheifetz, I., Wrenn, S., Kypuros, K., Ackerman, K., Maffei, F., Bloomquist, G., Rizkalla, N., Kimura, D., Shah, S., Tigges, C., Su, F., Barlow, C., Michelson, K., Wolfe, K., Goodman, D., Campbell, L., Sorce, L., Bysani, K., Monjure, T., Evans, M., Totapally, B., Chegondi, M., Rodriguez, C., Frazier, J., Steele, L., Viteri, S., Costarino, A., Thomas, N., Spear, D., Hirshberg, E., Lilley, J., Rowan, C., Rider, C., Kane, J., Zimmerman, J., Greeley, C., Lin, J., Jacobs, R., Parker, M., Culver, K., Loftis, L., Jaimon, N., Goldsworthy, M., Fitzgerald, J., Weiss, S., Nadkarni, V., Bush, J., Diliberto, M., Alen, C., Gessouroun, M., Sapru, A., Lang, T., Alkhouli, M., Kamath, S., Friel, D., Daufeldt, J., Hsing, D., Carlo, C., Pon, S., Scimeme, J., Shaheen, A., Hassinger, A., Qiao, H., Giuliano, J., Tala, J., Vinciguerra, D., Fernandez, A., Carrero, R., Hoyos, P., Jaramillo, J., Posada, A., Izquiierdo, L., Piñeres Olave, B. E., Donado, J., Dalmazzo, R., Rendich, S., Palma, L., Lapadula, M., Acuna, C., Cruces, P., Clement De Clety, S., Dujardin, M., Berghe, C., Renard, S., Zurek, J., Steinherr, H., Mougkou, K., Critselis, E., Di Nardo, M., Picardo, S., Tortora, F., Rossetti, E., Fragasso, T., Cogo, Paola, Netto, R., Dagys, A., Gurskis, V., Kevalas, R., Neeleman, C., Lemson, J., Luijten, C., Wojciech, K., Pagowska Klimek, I., Szczepanska, M., Karpe, J., Nunes, P., Almeida, H., Rios, J., Vieira, M., Revilla, P., Urbano, J., Lopez Herce, J., Bustinza, A., Cuesta, A., Hofheinz, S., Rodriguez Nunez, A., Sanagustin, S., Gonzalez, E., Riaza, M., Piaya, R., Soler, P., Esteban, E., Laraudogoitia, J., Monge, C., Herrera, V., Granados, J., Gonzalez, C., Koroglu, T., Ozcelik, E., Baines, P., Plunkett, A., Davis, P., George, S., Tibby, S., Harris, J., Agbeko, R., Lampitt, R., Brierley, J., Peters, M., Jones, A., Dominguez, T., Thiruchelvam, T., Deep, A., Ridley, L., Bowen, W., Levin, R., Macleod, I., Gray, M., Hemat, N., Alexander, J., Ali, S., Pappachan, J., Mccorkell, J., Fortune, P., Macdonald, M., Hudnott, P., Suyun, Q., Singhi, S., Nallasamy, K., Lodha, R., Shime, N., Tabata, Y., Saito, O., Ikeyama, T., Kawasaki, T., Lum, L., Abidin, A., Kee, S., Tang, S., Jalil, R., Guan, Y., Yao, L., Lin, K., Ong, J., Salloo, A., Doedens, L., Mathivha, L., Reubenson, G., Moaisi, S., Pentz, A., Green, R., Schibler, A., Erickson, S., Mceneiry, J., Long, D., Dorofaeff, T., Coulthard, M., Millar, J., Delzoppo, C., Williams, G., Morritt, M., Watts, N., Beca, J., Sherring, C., and Bushell, T.

Subjects
Male, Pediatrics, Cross-sectional study, shock, Critical Care and Intensive Care Medicine, Severity of Illness Index, 0302 clinical medicine, Prevalence, Hospital Mortality, Prospective Studies, 030212 general & internal medicine, Practice Patterns, Physicians', Child, Prospective cohort study, Pediatric intensive care unit, Perinatology and Child Health, Europe, Treatment Outcome, Child, Preschool, outcome, children, management, pediatric intensive care unit, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, medicine.medical_specialty, Adolescent, Critical Care, Intensive Care Units, Pediatric, Sepsis, 03 medical and health sciences, Intensive care, Severity of illness, medicine, Humans, Healthcare Disparities, business.industry, Organ dysfunction, Infant, Newborn, Infant, 030208 emergency & critical care medicine, Health Status Disparities, medicine.disease, United States, Clinical trial, Cross-Sectional Studies, Multivariate Analysis, Emergency medicine, business
Abstract

Copyright © 2016 by the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.Objectives: Pediatric severe sepsis remains a significant global health problem without new therapies despite many multicenter clinical trials. We compared children managed with severe sepsis in European and U.S. PICUs to identify geographic variation, which may improve the design of future international studies. Design: We conducted a secondary analysis of the Sepsis PRevalence, OUtcomes, and Therapies study. Data about PICU characteristics, patient demographics, therapies, and outcomes were compared. Multivariable regression models were used to determine adjusted differences in morbidity and mortality. Setting: European and U.S. PICUs. Patients: Children with severe sepsis managed in European and U.S. PICUs enrolled in the Sepsis PRevalence, OUtcomes, and Therapies study. Interventions: None. Measurements and Main Results: European PICUs had fewer beds (median, 11 vs 24; p < 0.001). European patients were younger (median, 1 vs 6 yr; p < 0.001), had higher severity of illness (median Pediatric Index of Mortality-3, 5.0 vs 3.8; p = 0.02), and were more often admitted from the ward (37% vs 24%). Invasive mechanical ventilation, central venous access, and vasoactive infusions were used more frequently in European patients (85% vs 68%, p = 0.002; 91% vs 82%, p = 0.05; and 71% vs 50%; p < 0.001, respectively). Raw morbidity and mortality outcomes were worse for European compared with U.S. patients, but after adjusting for patient characteristics, there were no significant differences in mortality, multiple organ dysfunction, disability at discharge, length of stay, or ventilator/vasoactive-free days. Conclusions: Children with severe sepsis admitted to European PICUs have higher severity of illness, are more likely to be admitted from hospital wards, and receive more intensive care therapies than in the United States. The lack of significant differences in morbidity and mortality after adjusting for patient characteristics suggests that the approach to care between regions, perhaps related to PICU bed availability, needs to be considered in the design of future international clinical trials in pediatric severe sepsis.

Published
2016

16. [Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data]

Author

María Angeles, García Teresa, Raquel, Porto Abal, Silvia, Rodríguez Torres, Diego, García Urabayen, Silvia, García Martínez, Ha, Trang, Angel, Campos Barros, Ana, Llorente de la Fuente, Arturo, Hernández González, Amaya, Bustinza Arriortua, Jesús, de la Cruz Moreno, Martí, Pons Odena, Purificación, Ventura Faci, Laura, Rubio Ortega, Estela, Pérez Ruiz, Antonio, Aguilar Fernández, Amaya, Pérez Ocón, Borja, Osona, Isabel, Delgado Pecellin, Ignacio, Arroyo Carrera, Javier, Sayas Catalán, Elvira, González Salas, and Carlos Martin, de Vicente

Subjects
Adult, Male, Adolescent, Infant, Hypoventilation, Sleep Apnea, Central, Europe, Young Adult, Cross-Sectional Studies, Spain, Child, Preschool, Humans, Female, Registries, Child
Abstract

Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015.The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school.The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques.

Published
2016

17. Prevalence of lifestyle-related cardiovascular risk factors in Peru: the PREVENCION study

Author

Juan F. Bolaños-Salazar, Humberto Zea-Diaz, Josefina Medina-Lezama, Fernando F. Corrales-Medina, Diana A. Chirinos-Medina, Carolina Cuba-Bustinza, Julio A. Chirinos, and Oscar L. Morey-Vargas

Subjects
Male, Gerontology, education, Cardiovascular risk factors, Population, Physical activity, Adult population, Binge drinking, Motor Activity, Risk Factors, Peru, Binge drink, Prevalence, Humans, Medicine, Life Style, education.field_of_study, High prevalence, business.industry, Smoking, Public Health, Environmental and Occupational Health, Middle Aged, Cardiovascular Diseases, Female, business, Alcohol consumption, Demography
Abstract

OBJECTIVES: To estimate the prevalence of lifestyle-related cardiovascular risk factors in the adult population of Arequipa, the second largest city in Peru. METHODS: The prevalence and patterns of smoking, alcohol drinking, lack of physical activity, high-fat diet, and low fruit and vegetable intake were evaluated among 1 878 subjects (867 men and 1 011 women) in a population-based study. RESULTS: The age-standardized prevalence of current smoking, former smoking, and never smoking were 21.6%, 14.3%, and 64.1%, respectively. The prevalence of current smoking was significantly higher in men than women (31.1% vs. 12.1%; P < 0.01). The prevalence of current alcohol use was 37.7% and significantly higher in men than women (55.5% vs. 19.7%; P < 0.01). Similarly, the prevalence of binge drinking was 21.2%, and the percentage of men who binge drink (36.1%) was significantly higher than for women (6.4%; P < 0.01). The vast majority of alcohol drinkers reported a pattern of alcohol consumption mainly on weekends and holidays rather than regular drinking with meals during the week. The proportion of insufficiently active people was 57.6% and was significantly higher in women than men (63.3% vs. 51.9%; P < 0.01). Overall, 42.0% of adults reported consuming high-fat diets, 34.5% reported low fruit intake, and 33.3% reported low vegetable intake. CONCLUSIONS: The high prevalence of lifestyle-related cardiovascular risk factors found in this Andean population is of concern. Preventive programs are urgently needed to deal with this growing problem.

Published
2008
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18. The Latin American experience of allografting patients with severe aplastic anaemia: real-world data on the impact of stem cell source and ATG administration in HLA-identical sibling transplants

Author

Gustavo Kusminsky, M M Gamboa-Alonso, A Karduss-Aurueta, Miguel Angel Herrera-Rojas, Ana Lisa Basquiera, Gregorio Jaimovich, Gustavo Jarchum, M Paz-Infanzón, A Bustinza-Álvarez, Guillermo J Ruiz-Argüelles, E Hernández-Maldonado, Vera Milovic, S Gómez, E Pedraza-Mesa, G Rodríguez-González, V Abello-Polo, Alejandro Requejo, J R Navarro-Cabrera, M A García Ruiz-Esparza, David Gómez-Almaguer, Juliana Martinez-Rolón, Sebastian Yantorno, Leonardo Feldman, José Carlos Jaime-Pérez, César Homero Gutiérrez-Aguirre, Jorge Vela-Ojeda, Jorge Arbelbide, Cecilia Foncuberta, Juan José García, G Balladares, Elias Eugenio Gonzalez-Lopez, Alberto Vazquez-Mellado, L Villamizar-Gómez, Silvia Saba, and Leandro Riera

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Anemia, Graft vs Host Disease, Gastroenterology, Disease-Free Survival, 03 medical and health sciences, 0302 clinical medicine, HLA Antigens, Internal medicine, medicine, Humans, Child, Survival rate, Aged, Antilymphocyte Serum, Transplantation, business.industry, Incidence (epidemiology), Siblings, Hazard ratio, Anemia, Aplastic, Hematology, Middle Aged, medicine.disease, Allografts, Confidence interval, Surgery, Survival Rate, Graft-versus-host disease, medicine.anatomical_structure, Latin America, 030220 oncology & carcinogenesis, Child, Preschool, Acute Disease, Female, Bone marrow, business, 030215 immunology, Stem Cell Transplantation
Abstract

We studied 298 patients with severe aplastic anaemia (SAA) allografted in four Latin American countries. The source of cells was bone marrow (BM) in 94 patients and PBSCs in 204 patients. Engraftment failed in 8.1% of recipients with no difference between BM and PBSCs (P=0.08). Incidence of acute GvHD (aGvHD) for BM and PBSCs was 30% vs 32% (P=0.18), and for grades III-IV was 2.6% vs 11.6% (P=0.01). Chronic GvHD (cGvHD) between BM and PBSCs was 37% vs 59% (P=0.002) and extensive 5% vs 23.6% (P=0.01). OS was 74% vs 76% for BM vs PBSCs (P=0.95). Event-free survival was superior in patients conditioned with anti-thymocyte globulin (ATG)-based regimens compared with other regimens (79% vs 61%, P=0.001) as excessive secondary graft failure was seen with other regimens (10% vs 26%, P=0.005) respectively. In multivariate analysis, aGvHD II-IV (hazard ratio (HR) 2.50, confidence interval (CI) 1.1-5.6, P=0.02) and aGvHD III-IV (HR 8.3 CI 3.4-20.2, P

Published
2016

19. Prevalence of the metabolic syndrome in Peruvian Andean hispanics: The PREVENCION study

Author

Mauricio Postigo-MacDowall, Julio A. Chirinos, Paola Villalobos-Tapia, Edgar Muñoz-Atahualpa, Oscar L. Morey-Vargas, Julio Chirinos-Pacheco, Fernando F. Corrales-Medina, Zoila Valdivia-Ascuna, Josefina Medina-Lezama, Juan F. Bolaños-Salazar, Ronald B. Goldberg, Humberto Zea-Diaz, Sheyla Paredes-Díaz, and Carolina Cuba-Bustinza

Subjects
Adult, Male, medicine.medical_specialty, Waist, Cross-sectional study, Endocrinology, Diabetes and Metabolism, Population, White People, Body Mass Index, Endocrinology, Internal medicine, Diabetes mellitus, Peru, Prevalence, Internal Medicine, medicine, Humans, education, Abdominal obesity, Aged, Metabolic Syndrome, education.field_of_study, business.industry, Indians, South American, Cholesterol, HDL, General Medicine, Middle Aged, medicine.disease, Cross-Sectional Studies, Female, medicine.symptom, Metabolic syndrome, business, Body mass index, Dyslipidemia
Abstract

Data regarding the prevalence of metabolic syndrome (MTS) in Andean populations are limited. We evaluated the prevalence of MTS according to American Heart Association/National Heart, Lung and Blood Institute criteria among 1878 subjects in the PREVENCION study in Peru. In women, the most common component was low HDL cholesterol (60.9%) followed by abdominal obesity (36.9%). In men, the most common component was elevated triglycerides (52.0%) followed by low HDL cholesterol (32.5%), whereas the prevalence of abdominal obesity was 14%. Abnormal fasting glucose was the least common component in men (5.4%) and women (5.0%). The prevalence of MTS was significantly higher in women compared to men (23.2% versus 14.3%) and increased steeply with age, particularly in women (p0.0001). Using body mass index (BMIor=30kg/m2) instead of waist circumference as a component of the MTS lead to equivalent prevalence estimates of MTS in men but significantly underestimated the prevalence in women. The MTS is highly prevalent among Peruvian Andeans, particularly in older women. The pattern of MTS components in this Andean population is characterized by a high prevalence of dyslipidemia and a relatively low prevalence of elevated fasting glucose. Further studies are required to characterize genetic and environmental determinants of these patterns.

Published
2007
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20. [Medication reconciliation at hospital admission: Results and identification of target patients]

Author

B, San José Ruiz, L, Serrano De Lucas, L R, López-Giménez, B, Baza Martínez, S, Sautua Larreategi, A, Bustinza Txertudi, Á, Sebastián Leza, M T, Chirivella Ramón, J L, Fonseca Legrand, and M, de Miguel Cascon

Subjects
Adult, Aged, 80 and over, Male, Patient Selection, Cardiology, Hospital Departments, Middle Aged, Drug Prescriptions, Quality Improvement, Electronic Prescribing, Medication Reconciliation, Patient Admission, ROC Curve, Humans, Medication Errors, Female, Prospective Studies, Surgery Department, Hospital, Aged
Abstract

To quantify and to classify the discrepancies between the admission treatment and the usual patient treatment. To determine the variables that predict those patients that will have more benefit from medication reconciliation.A prospective medication reconciliation study was conducted in the Vascular Surgery Unit from March 2014 to December 2014. When the patients were admitted to the Vascular Surgery Unit, they were informed about the study and asked to prepare information about their chronic treatment. The pharmacist then checked their clinical records, outpatient prescriptions, and also interviewed the patient, obtaining the best pharmacotherapeutic history available. The discrepancies with the admission treatment were written into the patient electronic clinical records. Finally, the physician classified the discrepancies, and changed the treatment, if needed. The statistical analysis included a comparison between patients with and without a non-justified discrepancy (NJD). The statistically different characteristics were used to plot Receiver Operating Characteristic curves, in order to determine the sensitivity and the specificity of these variables to select patients with discrepancies.A total of 380 patients were included. There were 845 non-justified, 600 justified non-documented, and 439 justified documented discrepancies. At least one NJD was identified in 293 patients (77%), with 65 patients (17%) having only justified discrepancies, and 22 patients (6%) having no discrepancies. NJD were: different dose, route or schedule (51%), omission (39%), wrong drug (8%) and commission (2%). The variables associated with discrepancies were number of chronic medications drugs and provider of information.In most studies, omission is the most frequent error. In contrast, in our study the most frequent error is different dose, route, or schedule. The variable that allows selecting patients at higher risk of discrepancies is the number of chronic drugs. This risk is also increased if the patients are not the manager of their own medication.

Published
2015

21. Merkel cell polyomavirus and human papilloma virus in proliferative skin lesions arising in patients treated with BRAF inhibitors

Author

Gerald Steven Falchook, Quan Lin, Victor G. Prieto, Razelle Kurzrock, Stephen K. Tyring, Naifa L. Busaidy, KR Hess, Ernesto Bustinza-Linares, Peter Rady, David S. Hong, J. C. Konopinski, Harrison P. Nguyen, Steven I. Sherman, Sharon R. Hymes, and Kristin L. Parkhurst

Subjects
0301 basic medicine, Adult, Male, Proto-Oncogene Proteins B-raf, Pathology, medicine.medical_specialty, Skin Neoplasms, Biopsy, Merkel cell polyomavirus, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Oximes, medicine, Humans, Prospective Studies, Papillomaviridae, Melanoma, Protein Kinase Inhibitors, Aged, Retrospective Studies, Skin, Aged, 80 and over, biology, medicine.diagnostic_test, Imidazoles, Dabrafenib, General Medicine, Middle Aged, biology.organism_classification, medicine.disease, 030104 developmental biology, Real-time polymerase chain reaction, Mutation, Carcinoma, Squamous Cell, Female, Warts, Verruca Vulgaris, Oncovirus, medicine.drug
Abstract

The potential role of oncogenic viruses mediating development of proliferative skin lesions in patients treated with RAF inhibitors is poorly understood. The objective of this study was to investigate human papilloma virus (HPV) and Merkel cell polyomavirus (MCPyV) in skin lesions among patients treated with RAF inhibitors with the help of a case series describing prevalence of HPV, MCPyV, and RAS mutations in skin biopsies obtained from patients receiving RAF inhibitors and developing cutaneous lesions. HPV-DNA was amplified by PCR utilizing multiple nested primer systems designed for detection of a broad range of HPV types. MCPyV copy number determination with real time PCR technology was performed by a "Quantification of MCPyV, small t region" kit. Thirty-six patients were tested (squamous cell carcinoma (SCC) = 14; verruca vulgaris = 15; other = 11). Nine of 12 SCCs (75 %) and eight of 13 verruca vulgaris lesions (62 %) tested positive for MCPyV whereas none of the normal skin biopsies obtained from nine of these patients tested positive for MCPyV (p = 0.0007). HPV incidence in cutaneous SCCs was not different compared to normal skin (50 vs. 56 %, p = 0.86). The association between MCPyV and proliferative skin lesions after RAF inhibitor therapy merits further investigation.

Published
2015

22. Trends in nosocomial infections and multidrug-resistant microorganisms in Spanish pediatric intensive care units

Author

José Carlos González, Patricia García Soler, José Andrés Concha Torre, Elisabeth Esteban Torné, Mercedes Palomar Martínez, Juan Carlos de Vicente, Paula Madurga Revilla, Iolanda Jordán García, and Amaya Bustinza Arriortua

Subjects
0301 basic medicine, Microbiology (medical), Male, Pediatrics, medicine.medical_specialty, Adolescent, Gram-positive bacteria, Urinary system, 030106 microbiology, Gram-Positive Bacteria, Intensive Care Units, Pediatric, 03 medical and health sciences, 0302 clinical medicine, Bloodstream infection, Internal medicine, Intensive care, Drug Resistance, Multiple, Bacterial, Gram-Negative Bacteria, Medicine, Humans, 030212 general & internal medicine, Prospective Studies, Child, Candida, Cross Infection, biology, business.industry, Ventilator-associated pneumonia, Infant, Newborn, Infant, Pneumonia, Ventilator-Associated, biology.organism_classification, medicine.disease, Multiple drug resistance, Pneumonia, Intensive Care Units, Spain, Child, Preschool, Urinary Tract Infections, Candida spp, Female, business
Abstract

Introduction Nosocomial infections (NI) are a major healthcare problem. National surveillance systems enable data to be compared and to implement new measures to improve our practice. Methods A multicentre, prospective, descriptive and observational study was conducted using the data from surveillance system for nosocomial infections created in 2007 for Spanish pediatric intensive care units. Data were collected for one month, between 01 and 31 March, for every study year (2008–2012). The objective was to report 5-years of NI surveillance data, as well as trends in infections by multidrug resistant organisms in Spanish pediatric intensive care units. Results A total of 3667 patients were admitted to the units during the study period. There were 90 (2.45%) patients with nosocomial infections. The mean rates during the 5 years study were: central line-associated bloodstream infection, 3.8/1000 central venous catheter-days, Ventilator-associated pneumonia 7.5/1000 endotracheal tube-days, and catheter-associated urinary tract infections 4.1/1000 urinary catheter-days. The comparison between the 2008 and 2009 rates for nosocomial infections did not show statistically significant differences. All rates homogeneously decreased from 2009 to 2012: central line-associated bloodstream infection 5.83 (95% CI 2.67–11.07) to 0.49 (95% CI 0.0125–2.76), P = 0.0029; ventilator-associated pneumonia 10.44 (95% CI 5.21–18.67) to 4.04 (95% CI 1.48–8.80), P = 0.0525; and Catheter-associated urinary tract infections 7.10 (95% CI 3.067–13.999) to 2.56 (95% CI 0.697–6.553), P = 0.0817; respectively. The microorganism analysis: 63 of the 99 isolated bacteria (63.6%) were Gram-negative bacteria (36.5% were resistant), 19 (19.2%) Gram-positive bacteria, and 17 (17.2%) were Candida spp. infections. Conclusions The local surveillance systems provide information for dealing with nosocomial infections rates.

Published
2015

23. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Author

Blein, Sophie, Bardel, Claire, Danjean, Vincent, Mcguffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B., Soucy, Penny, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Gerdes, Anne Marie, Ejlertsen, Bent, Nielsen, Finn C., Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Conejero, Raquel Andrés, Segota, Ena, Weitzel, Jeffrey N., Thelander, Margo, Peterlongo, Paolo, Radice, Paolo, Pensotti, Valeria, Dolcetti, Riccardo, Bonanni, Bernardo, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Manoukian, Siranoush, Varesco, Liliana, Capone, Gabriele L., Papi, Laura, Ottini, Laura, Yannoukakos, Drakoulis, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brady, Angela, Brewer, Carole, Foo, Claire, Evans, D. Gareth, Frost, Debra, Eccles, Diana, Douglas, Fiona, Cook, Jackie, Adlard, Julian, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E., Kennedy, M. John, Tischkowitz, Marc, Rogers, Mark T., Porteous, Mary E., Morrison, Patrick J., Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Cole, Trevor, Godwin, Andrew K., Isaacs, Claudine, Claes, Kathleen, De Leeneer, Kim, Meindl, Alfons, Gehrig, Andrea, Wappenschmidt, Barbara, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Plendl, Hansjoerg, Kast, Karin, Rhiem, Kerstin, Ditsch, Nina, Arnold, Norbert, Varon Mateeva, Raymonda, Schmutzler, Rita K., Preisler Adams, Sabine, Markov, Nadja Bogdanova, Wang Gohrke, Shan, de Pauw, Antoine, Lefol, Cédrick, Lasset, Christine, Leroux, Dominique, Rouleau, Etienne, Damiola, Francesca, Dreyfus, Hélène, Barjhoux, Laure, Golmard, Lisa, Uhrhammer, Nancy, Bonadona, Valérie, Sornin, Valérie, Bignon, Yves Jean, Carter, Jonathan, Van Le, Linda, Piedmonte, Marion, Disilvestro, Paul A., de la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Aittomäki, Kristiina, Jager, Agnes, van den Ouweland, Ans M. W., Kets, Carolien M., Aalfs, Cora M., van Leeuwen, Flora E., Hogervorst, Frans B. L., Meijers Heijboer, Hanne E. J., Oosterwijk, Jan C., van Roozendaal, Kees E. P., Rookus, Matti A., Devilee, Peter, van der Luijt, Rob B., Olah, Edith, Diez, Orland, Teulé, Alex, Lazaro, Conxi, Blanco, Ignacio, Del Valle, Jesús, Jakubowska, Anna, Sukiennicki, Grzegorz, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska Bieniek, Katarzyna, Agnarsson, Bjarni A., Maugard, Christine, Amadori, Alberto, Montagna, Marco, Teixeira, Manuel R., Spurdle, Amanda B., Foulkes, William, Olswold, Curtis, Lindor, Noralane M., Pankratz, Vernon S., Szabo, Csilla I., Lincoln, Anne, Jacobs, Lauren, Corines, Marina, Robson, Mark, Vijai, Joseph, Berger, Andreas, Fink Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Kaulich, Daphne Geschwantler, Pfeiler, Georg, Tea, Muy Kheng, Greene, Mark H., Mai, Phuong L., Rennert, Gad, Imyanitov, Evgeny N., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Tchatchou, Sandrine, Toland, Amanda Ewart, Pedersen, Inge Sokilde, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk, Caligo, Maria A., Friedman, Eitan, Zidan, Jamal, Laitman, Yael, Lindblom, Annika, Melin, Beatrice, Arver, Brita, Loman, Niklas, Rosenquist, Richard, Olopade, Olufunmilayo I., Nussbaum, Robert L., Ramus, Susan J., Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Arun, Banu K., Mitchell, Gillian, Karlan, Beth Y., Lester, Jenny, Orsulic, Sandra, Stoppa Lyonnet, Dominique, Thomas, Gilles, Simard, Jacques, Couch, Fergus J., Offit, Kenneth, Easton, Douglas F., Chenevix Trench, Georgia, Antoniou, Antonis C., Mazoyer, Sylvie, Phelan, Catherine M., Sinilnikova, Olga M., Cox, David G., Angelakos, Maggie, Maskiell, Judi, Dite, Gillian, Tsimiklis, Helen, Rudaitis, Vilius, Griškevicius, Laimonas, Eglitis, Drs Janis, Krilova, Anna, Stengrevics, Aivars, Ding, Chun, Steele, Linda, Barroso, Alicia, Alonso, Rosario, Pita, Guillermo, Viel, Alessandra, della Puppa, Lara, Barile, Monica, Tommasi, Stefania, Pilato, Brunella, Lambo, Rossana, Martayan, Aline, Tibiletti, Maria Grazia, Ellis, Steve, Fineberg, Elena, Miedzybrodzka, Zosia, Gregory, Helen, Jeffers, Lisa, Ong, Kai Ren, Hoffman, Jonathan, James, Margaret, Paterson, Joan, Taylor, Amy, Murray, Alexandra, Mccann, Emma, Barton, David, Drummond, Sarah, Kivuva, Emma, Searle, Anne, Goodman, Selina, Hill, Kathryn, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah, Haque, Eshika, Tobias, Ed, Duncan, Alexis, Jacobs, Chris, Langman, Caroline, Dorkins, Huw, Serra Feliu, Gemma, Ellis, Ian, Houghton, Catherine, Lalloo, Fiona, Taylor, Jane, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Collier, Rebecca, Claber, Oonagh, Jobson, Irene, Mcleod, Diane, Halliday, Dorothy, Durell, Sarah, Stayner, Barbara, Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, Page, Elizabeth, Ardern Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Killick, Emma, Martin, Sue, Rea, Gillian, Kulkarni, Anjana, Quarrell, Oliver, Bardsley, Cathryn, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Lehmann, Anna, Lucassen, Anneke, Crawford, Gillian, Mcbride, Donna, Smalley, Sarah, Weaver, Jo Ellen, Bove, Betsy, Verny Pierre, Carole, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Gauthier Villars, Marion, Buecher, Bruno, Houdayer, Claude, Moncoutier, Virginie, Belotti, Muriel, Tirapo, Carole, Bressac de Paillerets, Brigitte, Caron, Olivier, Handallou, Sandrine, Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Eisinger, François, Coupier, Isabelle, Pujol, Pascal, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Lidereau, Rosette, Demange, Liliane, Nogues, Catherine, Muller, Danièle, Fricker, Jean Pierre, Barouk Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Ferrer, Sandra Fert, Frénay, Marc, Vénat Bouvet, Laurence, Delnatte, Capucine, Mortemousque, Isabelle, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Sokolowska, Johanna, Bronner, Myriam, Collonge Rame, Marie Agnès, Damette, Alexandre, Lynch, Henry T., Snyder, Carrie L., Muranen, Taru A., Blomqvist, Drs Carl, Aaltonen, Kirsimari, Erkkilä, Irja, Palola, Virpi, Verhoef, S., Schmidt, M. K., de Lange, J. L., Wijnands, R., Collée, J. M., Hooning, M. J., Seynaeve, C., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Wijnen, J. T., Tollenaar, R. A. E. M., van Cronenburg, T. C. T. E. F., Mensenkamp, A. R., Ausems, M. G. E. M., van Os, T. A. M., Gille, J. J. P., Waisfisz, Q., Gómez Garcia, E. B., Blok, M. J., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Vasen, H. F., Siesling, S., Overbeek, L. I. H., Papp, Janos, Vaszko, Tibor, Bozsik, Aniko, Pocza, Timea, Franko, Judit, Balogh, Maria, Domokos, Gabriella, Ferenczi, Judit, Balmaña, J., Capella, Gabriel, Dumont, Martine, Tranchant, Martine, Peixoto, Ana, Santos, Catarina, Rocha, Patrícia, Pinto, Pedro, Thorne, Heather, Niedermayr, Eveline, Foretova, Lenka, Machackova, Eva, Zikan, Michal, Pohlreich, Petr, Kleibl, Zdenek, Dishon, Sara, Lejbkowicz, Flavio, Pinchev, Mila, Senter, Leigha, Sweet, Kevin, Craven, Caroline, O'Conor, Michelle, Borg, Ake, Olsson, Håkan, Jernström, Helena, Henriksson, Karin, Harbst, Katja, Soller, Maria, Kristoffersson, Ulf, Öfverholm, Anna, Nordling, Margareta, Karlsson, Per, Einbeigi, Zakaria, von Wachenfeldt, Anna, Liljegren, Annelie, Bustinza, Gisela Barbany, Rantala, Johanna, Ardnor, Christina Edwinsdotter, Emanuelsson, Monica, Ehrencrona, Hans, Pigg, Maritta Hellström, Stenmark Askmalm, Marie, Liedgren, Sigrun, Zvocec, Cecilia, Niu, Qun, Seldon, Joyce, Kwan, Lorna, Crawford, Beth, Loranger, Kate, Mak, Julie, Stewart, Nicola, Lee, Robin, Blanco, Amie, Conrad, Peggy, Chan, Salina, Pharoah, Paul D. P., Gayther, Simon, Pye, Carole, Harrington, Patricia, Wozniak, Eva, Lindeman, Geoffrey, Harris, Marion, Delatycki, Martin, Sawyer, Sarah, Driessen, Rebecca, Thompson, Ella, Breast Cancer Family Registry, Null, Embrace, Null, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Medical Oncology, Clinical Genetics, Radiotherapy, MUMC+: DA KG Lab Specialisten (9), Klinische Genetica, Genetica & Celbiologie, RS: FHML non-thematic output, [ 1 ] Univ Lyon 1, Ctr Rech Cancerol Lyon, CNRS, INSERM U1052,UMR5286, F-69365 Lyon, France [ 2 ] Univ Lyon, F-69000 Lyon, France [ 3 ] Univ Lyon 1, F-69100 Villeurbanne, France [ 4 ] Univ Lyon 1, CNRS, Lab Biometrie & Biol Evolut LBBE Biometrie & Bio, UMR 5558, F-69622 Villeurbanne, France [ 5 ] Univ Grenoble Alpes, Lab Informat Grenoble LIG, Equipe Projet Multiprogrammat & Ordonnancement Re, UMR 5217, F-38041 Grenoble, France [ 6 ] INRIA Rhone Alpes, Equipe Projet MOAIS, F-38334 Saint Ismier, France [ 7 ] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England [ 8 ] QIMR Berghofer, Dept Genet & Computat Biol, Brisbane, Qld, Australia [ 9 ] Univ Laval, Ctr Hosp Univ Quebec, Ctr Rech, Charlesbourg, PQ, Canada [ 10 ] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA [ 11 ] Columbia Univ, Dept Pediat, Coll Phys & Surg, New York, NY 10027 USA [ 12 ] Columbia Univ, Dept Med, Coll Phys & Surg, New York, NY 10027 USA [ 13 ] Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA [ 14 ] Univ Utah, Sch Med, Huntsman Canc Inst, Dept Internal Med, Salt Lake City, UT USA [ 15 ] Canc Prevent Inst Calif, Dept Epidemiol, Fremont, CA 94538 USA [ 16 ] Vilnius State Univ, Hosp Santariskiu Clin, Hematol Oncol & Transfus Med Ctr, Vilnius, Lithuania [ 17 ] State Res Inst, Ctr Innovat Med, Dept Mol & Regenerat Med, Vilnius, Lithuania [ 18 ] Latvian Biomed Res & Study Ctr, LV-1067 Riga, Latvia [ 19 ] Beth Israel Deaconess Med Ctr, Div Hematol Oncol, Boston, MA 02215 USA [ 20 ] Univ Pretoria, Dept Genet, ZA-0028 Pretoria, South Africa [ 21 ] City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA 91010 USA [ 22 ] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark [ 23 ] Copenhagen Univ Hosp, Rigshosp, Dept Oncol, Copenhagen, Denmark [ 24 ] Copenhagen Univ Hosp, Rigshosp, Ctr Genom Med, Copenhagen, Denmark [ 25 ] Spanish Natl Canc Res Ctr CNIO, Human Genet Grp, Madrid, Spain [ 26 ] Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain [ 27 ] Hosp Clin Univ Lozano Blesa, Med Oncol Serv, Zaragoza 50009, Spain [ 28 ] Holy Cross Hosp, Michael & Dianne Bienes Comprehens Canc Ctr, Ft Lauderdale, FL USA [ 29 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Div Clin Canc Genet, Duarte, CA 91010 USA [ 30 ] John Muir Med Ctr, Walnut Creek, CA USA [ 31 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Duarte, CA 91010 USA [ 32 ] Ist FIRC Oncol Mol IFOM, I-20139 Milan, Italy [ 33 ] Ist Nazl Tumori, IRCCS, Dept Prevent & Predict Med, Unit Mol Bases Genet Risk & Genet Testing, I-20133 Milan, Italy [ 34 ] Cogentech Canc Genet Test Lab, I-20139 Milan, Italy [ 35 ] Ctr Riferimento Oncol CRO, Canc Bioimmunotherapy Unit, I-33081 Aviano, Italy [ 36 ] Ist Europeo Oncol, Div Canc Prevent & Genet, I-20141 Milan, Italy [ 37 ] Ist Nazl Tumori, IRCCS, Dept Prevent & Predict Med, Unit Med Genet, I-20133 Milan, Italy [ 38 ] Azienda Osped Univ San Martino Genova, IST Ist Nazl Ric Cancro, IRCCS, Dept Epidemiol Prevent & Special Funct,Unit Hered, I-16132 Genoa, Italy [ 39 ] FiorGen Fdn Pharmacogen, I-50019 Sesto Fiorentino, Italy [ 40 ] Univ Florence, Dept Biomed Expt & Clin Sci, Unit Med Genet, Florence, Italy [ 41 ] Univ Roma La Sapienza, Dept Mol Med, I-00185 Rome, Italy [ 42 ] Aristotle Univ 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D-24105 Kiel, Germany [ 84 ] Tech Univ Dresden, Univ Hosp Carl Gustav Carus Dresden, Dept Gynecol & Obstet, D-01062 Dresden, Germany [ 85 ] Univ Med Ctr Schleswig Holstein, Dept Gynecol & Obstet, D-24105 Kiel, Germany [ 86 ] Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany [ 87 ] GC HBOC, Cologne, Germany [ 88 ] Univ Hosp Munster, Inst Human Genet, D-48149 Munster, Germany [ 89 ] Univ Hosp Ulm, Dept Gynecol & Obstet, Ulm, Germany [ 90 ] Inst Curie, Dept Tumor Biol, F-75248 Paris 05, France [ 91 ] Ctr Leon Berard, Unite Prevent & Epidemiol Genet, F-69008 Lyon, France [ 92 ] CHU Grenoble, Genet Clin, F-38043 Grenoble 9, France [ 93 ] Univ Grenoble 1, INSERM, Inst Albert Bonniot, U823, F-38706 La Tronche, France [ 94 ] Hop Rene Huguenin, Lab Oncogenet, F-92210 St Cloud, France [ 95 ] Univ Clermont Ferrand, Ctr Jean Perrin, Dept Oncogenet, F-63011 Clermont Ferrand, France [ 96 ] Royal Prince Alfred Hosp, Sydney Canc Ctr, Gynaecol Oncol, Camperdown, NSW 2050, Australia [ 97 ] Univ Sydney, Camperdown, NSW 2050, Australia [ 98 ] Univ N Carolina, Dept OB GYN, Gynecol Oncol Grp, Chapel Hill, NC 27599 USA [ 99 ] Roswell Pk Canc Inst, Gynecol Oncol Grp Stat & Data Ctr, Buffalo, NY 14263 USA [ 100 ] Brown Univ, Women & Infants Hosp, Providence, RI 02905 USA [ 101 ] Hlth Res Inst San Carlos Clin Hosp IdISSC, Mol Oncol Lab, Madrid 28040, Spain [ 102 ] Univ Helsinki, Dept Obstet & Gynecol, Helsinki 00029, Finland [ 103 ] Univ Helsinki, Cent Hosp, Biomedicum Helsinki, Helsinki 00029, Finland [ 104 ] Univ Helsinki, Cent Hosp, Biomedicum Helsinki 1, Dept Clin Genet, FIN-00290 Helsinki, Finland [ 105 ] Erasmus Univ, Med Ctr, Dept Med Oncol, Family Canc Clin, NL-3000 CA Rotterdam, Netherlands [ 106 ] Erasmus Univ, Med Ctr, Dept Clin Genet, Family Canc Clin, NL-3000 CA Rotterdam, Netherlands [ 107 ] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands [ 108 ] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands [ 109 ] Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands [ 110 ] Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands [ 111 ] Vrije Univ Amsterdam, Med Ctr Amsterdam, Dept Clin Genet, NL-1081 HV Amsterdam, Netherlands [ 112 ] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands [ 113 ] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands [ 114 ] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Human Genet, NL-2300 RC Leiden, Netherlands [ 115 ] Leiden Univ, Med Ctr, Dept Pathol, NL-2300 RC Leiden L1Q, Netherlands [ 116 ] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands [ 117 ] Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary [ 118 ] Univ Hosp Vall DHebron, Vall DHebron Inst Oncol VHIO, Vall DHebron Res Inst VHIR, Oncogenet Grp, Barcelona 08035, Spain [ 119 ] Univ Autonoma Barcelona, Barcelona 08035, Spain [ 120 ] Hosp Duran & Reynals, Catalan Inst Oncol, Inst Invest Biomed Bellvitge IDIBELL, Genet Counseling Unit,Hereditary Canc Program, Barcelona 08908, Spain [ 121 ] Hosp Duran & Reynals, Catalan Inst Oncol, Inst Invest Biomed Bellvitge IDIBELL, Mol Diagnost Unit,Hereditary Canc Program, Barcelona 08908, Spain [ 122 ] Pomeranian Med Univ, Fac Med & Dent, Dept Genet & Pathomorphol, PL-70111 Szczecin, Poland [ 123 ] Landspitali Natl Univ Hosp Iceland, IS-101 Reykjavik, Iceland [ 124 ] Univ Iceland, Fac Med, Sch Med, Sch Hlth Sci, IS-101 Reykjavik, Iceland [ 125 ] Nouvel Hop Civil, Hop Univ Strasbourg, Lab Diagnost Genet, F-67091 Strasbourg, France [ 126 ] Nouvel Hop Civil, Hop Univ Strasbourg, Serv Oncohematol, F-67091 Strasbourg, France [ 127 ] Univ Padua, Dept Surg Sci Oncol & Gastroenterol, Clin Surg 2, I-35124 Padua, Italy [ 128 ] IRCCS, IOV, Immunol & Mol Oncol Unit, I-35128 Padua, Italy [ 129 ] Portuguese Oncol Inst IPO PORTO, Dept Genet, P-4200072 Oporto, Portugal [ 130 ] Univ Porto, ICBAS, P-4050313 Oporto, Portugal [ 131 ] McGill Univ, Dept Human Genet & Oncol, Program Canc Genet, Montreal, PQ J2W 1S6, Canada [ 132 ] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA [ 133 ] Mayo Clin, Dept Hlth Sci Res, Scottsdale, AZ 85259 USA [ 134 ] NHGRI, NIH, Bethesda, MD 20892 USA [ 135 ] Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10065 USA [ 136 ] Mem Sloan Kettering Canc Ctr, Clin Genet Res Lab, New York, NY 10065 USA [ 137 ] AKH Wien, Med Univ Vienna, Univ Klin Frauenheilkun, Comprehens Canc Ctr Vienna,Dept Obstet & Gynecol, A-1090 Vienna, Austria [ 138 ] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA [ 139 ] Natl Israeli Canc Control Ctr, IL-34361 Haifa, Israel [ 140 ] Carmel Hosp, Dept Community Med & Epidemiol, Clalit Hlth Serv, IL-34361 Haifa, Israel [ 141 ] Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, IL-34362 Haifa, Israel [ 142 ] NN Petrov Oncol Res Inst, St Petersburg 197758, Russia [ 143 ] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON M5S 1A8, Canada [ 144 ] St Michaels Hosp, Keenan Res Ctr, Li Ka Shing Knowledge Inst, Toronto, ON M5B 1T8, Canada [ 145 ] Canc Care Ontario, Ontario Canc Genet Network, Toronto, ON M5G 2L7, Canada [ 146 ] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada [ 147 ] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada [ 148 ] Dept Human Canc Genet, Columbus, OH 43210 USA [ 149 ] Ohio State Univ, Wexner Med Ctr, Dept Internal Med, Columbus, OH 43210 USA [ 150 ] Ohio State Univ, Wexner Med Ctr, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA [ 151 ] Ohio State Univ, Arthur G James Canc Hosp, Ctr Comprehens Canc, Columbus, OH 43210 USA [ 152 ] Richard J Solove Res Inst OSUCCC James, Columbus, OH 43210 USA [ 153 ] Aalborg Univ Hosp, Dept Biochem, Sect Mol Diagnost, DK-9000 Aalborg, Denmark [ 154 ] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense C, Denmark [ 155 ] Aarhus Univ Hosp, Dept Clin Genet, DK-8200 Aarhus N, Denmark [ 156 ] Azienda Osped Univ Pisana, Osped S Chiara, Div Anat Patol & Diagnost Mol & Ultrastrutturale, Lab Genet Oncol, I-56126 Pisa, Italy [ 157 ] Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, Sheba Lab Mol Genet, IL-52621 Tel Hashomer, Israel [ 158 ] Inst Oncol, Rivka Ziv Med Ctr, IL-13100 Maimonides, Safed, Israel [ 159 ] Karolinska Univ Hosp, Dept Canc Genet, SE-17176 Stockholm, Sweden [ 160 ] Umea Univ, Dept Radiat Sci, Oncol, SE-90187 Umea, Sweden [ 161 ] Karolinska Univ Hosp, Dept Oncol Pathol, Radiumhemmet, S-17176 Stockholm, Sweden [ 162 ] Univ Lund Hosp, Dept Clin Sci, Div Oncol & Pathol, SE-22185 Lund, Sweden [ 163 ] Uppsala Univ, Dept Immunol Genet & Pathol, Rudbeck Lab, S-75185 Uppsala, Sweden [ 164 ] Univ Chicago, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA [ 165 ] Univ Calif San Francisco, Dept Med & Genet, San Francisco, CA 94143 USA [ 166 ] Univ So Calif, Norris Comprehens Canc Ctr, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90089 USA [ 167 ] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Dept Med, Philadelphia, PA 19104 USA [ 168 ] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA [ 169 ] Univ Texas MD Anderson Canc Ctr, Dept Breast Med Oncol, Div Canc Med, Houston, TX 77230 USA [ 170 ] Peter MacCallum Canc Ctr, Familial Canc Ctr, Sir Peter MacCallum Dept Oncol, East Melbourne, Vic 3002, Australia [ 171 ] Univ Melbourne, Sir Peter MacCallum Dept Oncol, Parkville, Vic 3010, Australia [ 172 ] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA [ 173 ] INSERM, Inst Curie, Serv Genet Oncol, F-75248 Paris, France [ 174 ] Univ Paris 05, Fac Med, Sorbonne Paris Cite, F-75006 Paris, France [ 175 ] Univ Lyon 1, Fac Med Lyon Est, Genet Med, F-69373 Lyon 08, France [ 176 ] Ctr Leon Berard, Fdn Synergie Lyon Canc, Inst Natl Canc INCa, F-69008 Lyon 08, France [ 177 ] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA [ 178 ] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL 33612 USA [ 179 ] Ctr Leon Berard, Hosp Civils Lyon, Unite Mixte Genet Constitut Canc Frequents, F-69373 Lyon 08, France [ 180 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Duarte, CA 91010 USA, Human genetics, CCA - Oncogenesis, MUMC+: DA KG Lab Centraal Lab (9), Lee, Andrew [0000-0003-0677-0252], Dennis, Joe [0000-0003-4591-1214], Tischkowitz, Marc [0000-0002-7880-0628], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Department of Obstetrics and Gynecology, Clinicum, Medicum, Kristiina Aittomäki / Principal Investigator, and Department of Medical and Clinical Genetics

Subjects
Genetic modifiers, Dna haplogroups, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], ADN mitocondrial, SUSCEPTIBILITY, VARIANTS, 0302 clinical medicine, Breast Cancer Family Registry, Brjóstakrabbamein, MULTIPLE, Aetiology, skin and connective tissue diseases, Phylogeny, Cancer, ddc:616, 0303 health sciences, Mutation, education.field_of_study, Variants, SINGLE-NUCLEOTIDE POLYMORPHISMS, Subclade, Mitochondrial DNA, 3. Good health, ddc, Damage, Oncology, Ovarian, 030220 oncology & carcinogenesis, DISEASES, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Single-nucleotide polymorphism, Breast Neoplasms/genetics, EMBRACE, GEMO Study Collaborators, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Urological cancers Radboud Institute for Molecular Life Sciences [Radboudumc 15], Genetics, Humans, education, Cancer och onkologi, Haplotype, BRCA2, Genes, mitochondrial haplogroup T1a1, breast cancer, BRCA2, Cancer and Oncology, GENETIC MODIFIERS, Polymorphisms, Cancer Research, [SDV]Life Sciences [q-bio], medicine.disease_cause, Haplogroup, 610 Medical sciences Medicine, 3123 Gynaecology and paediatrics, Medicine and Health Sciences, 2.1 Biological and endogenous factors, OXIDATIVE STRESS, Non-U.S. Gov't, Medicine(all), Gen, BRCA1 Protein, Research Support, Non-U.S. Gov't, Cohort, OVARIAN, Mitochondria, Mitochondrial, Genes, Mitochondrial, Female, Research Article, Risk, Heterozygote, BRCA1 protein, breast neoplasms, female, genetic predisposition to disease, haplotypes, humans, phylogeny, risk, genes, BRCA2, genes, mitochondrial, heterozygote, mutation, cancer research, oncology, Population, 3122 Cancers, Oncology and Carcinogenesis, Breast Neoplasms, Biology, Research Support, Càncer de mama, Breast Cancer, medicine, Journal Article, Genetic Predisposition to Disease, ddc:610, Oncology & Carcinogenesis, HEBON, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CONSORTIUM, African, DNA HAPLOGROUPS, Arfgengi, Haplotypes, Susceptibility, BRCA1 Protein/genetics, Human mitochondrial DNA haplogroup
Abstract

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. European Commission Seventh Framework Program 223175: HEALTH-F2-2009-223175 Cancer Research UK C12292/A11174 C1287/A10118 C1287/A11990 C5047/A8385 National Health and Medical Research Council (NHMRC) program National Health and Medical Research Council (NHMRC) American Cancer Society Early Detection Professorship SIOP-06-258-01-COUN Intramural Research Program of the National Cancer Institute, National Institutes of Health National Cancer Institute, National Institutes of Health UM1 CA164920 Lithuania (BFBOCC-LT): Research Council of Lithuania LIG-07/2012 LSC 10.0010.08 European Social Fund 2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/016 Liepaja City Council, Liepaja, Latvia Breast Cancer Research Foundation Cancer Association of South Africa (CANSA) Morris and Horowitz Families Professorship in Cancer Etiology and Outcomes Research NEYE Foundation Spanish Association against Cancer (Asociacion Espanola Contra el Cancer) AECC08 Thematic Network Cooperative Research in Cancer (Red Tematica Investigacion Cooperativa en Cancer (RTICC), Centro de Investigacion Cancer, Salamanca, Spain) RTICC 06/0020/1060 Spanish Ministry of Science and Innovation FIS PI08 1120 Fondo de Investigacion Sanitaria (FIS) SAF2010-20493 Fundacion Mutua Madrilena (FMMA) City of Hope Clinical Cancer Genetics Community Network and the Hereditary Cancer Research Registry (COH-CCGCRN) National Cancer Institute and the Office of the Director, National Institutes of Health RC4CA153828 Italian citizens Fondazione IRCCS Istituto Nazionale Tumori Italian Association for Cancer Research (AIRC) European Union (European Social Fund (ESF) Greek national funds through the "Education and Lifelong Learning" operational program of the National Strategic Reference Framework (NSRF) - Research Funding Program of the General Secretariat for Research and Technology: ARISTEIA "Heracleitus II: Investing in knowledge society through the European Social Fund" Deutsches Krebsforschungszentrum (DKFZ) National Institute for Health Research (NIHR) grant to the Biomedical Research Centre, Manchester, UK NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust, London University of Kansas Cancer Center P30 CA168524 Kansas Bioscience Authority Eminent Scholar Program Chancellors Distinguished Chair in Biomedical Sciences Professorship German Cancer Aid 109076 Center for Molecular Medicine Cologne (CMMC) Ligue National Contre le Cancer Association "Le cancer du sein, parlons-en!" Award Canadian Institutes of Health Research for the CIHR Team in Familial Risks of Breast Cancer program GOA BOF10/GOA/019 Ghent University Hospital National Cancer Institute grants to the GOG Administrative Office and Tissue Bank CA 27469 GOG Statistical and Data Center CA 37517 GOG's Cancer Prevention and Control Committee CA 101165 Instituto de Salud Carlos III (ISCIII), Madrid, Spain RD12/00369/0006 12/00539 European Regional Development Fund (Fonds europeen de developpement regional (FEDER)) funds Helsinki University Central Hospital Research Fund Academy of Finland 266528 Finnish Cancer Society Sigrid Juselius Foundation Dutch Cancer Society NKI1998-1854 NKI2004-3088 NKI2007-3756 Netherlands Organization of Scientific Research NWO 91109024 Pink Ribbon grant 110005 Biobanking and Molecular Resource Infrastructure (BBMRI) NWO 184.021.007/CP46 Hungarian Research and Technological Innovation Fund (KTIA)/Hungarian Scientific Research Fund (Orszagos Tudomanyos Kutatasi Alapprogramok (OTKA)) KTIA-OTKA CK-80745 KTIA-OTKA K-112228 Institut Catala d'Oncologia (ICO): contract grant sponsor: Asociacion Espanola Contra el Cancer Spanish Health Research Foundation Ramon Areces Foundation Instituto de Salud Carlos III (ISCIII) Catalan Health Institute Autonomous Government of Catalonia International Hereditary Cancer Center (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) PBZ_KBN_122/P05/2004 Icelandic Association "Walking for Breast Cancer Research" Landspitali University Hospital Research Fund Canadian Institutes of Health Research (CIHR) for the "CIHR Team in Familial Risks of Breast Cancer" program, Canadian Breast Cancer Research Alliance 019511 Ministry of Economic Development, Innovation and Export Trade PSR-SIIRI-701 Ministero della Salute and a "5 x 1,000" Istituto Oncologico Veneto grant Liga Portuguesa Contra o Cancro National Breast Cancer Foundation Queensland Cancer Fund Cancer Councils of New South Wales, Victoria, Tasmania and South Australia Cancer Foundation of Western Australia National Institutes of Health (NIH) through the National Cancer Institute (NCI) CA 116167 CA 128978 CA 176785 NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer CA116201 US Department of Defense Ovarian Cancer Idea award W81XWH-10-1-0341 Ministry of Health of the Czech Republic to Masaryk Memorial Cancer Institute MMCI 00209805 European Regional Development Fund State Budget of the Czech Republic (RECAMO) CZ. 1.05/2.1.00/03.0101 Charles University in Prague project UNCE204024 Robert and Kate Niehaus Clinical Cancer Genetics Initiative Intramural Research Program of the National Cancer Institute Westat, Inc, Rockville, MD, USA N02-CP-11019-50 N02-CP-65504 Clalit Health Services in Israel Israel Cancer Association Breast Cancer Research Foundation (BCRF), New York, NY, USA Russian Federation for Basic Research 11-04-00227 12-04-00928 12-04-01490 Federal Agency for Science and Innovations, Russia 02.740.11.0780 Ohio State University Comprehensive Cancer Center Istituto Toscano Tumori (ITT) Israeli Inherited Breast Cancer Consortium Swedish Breast Cancer Swedish Cancer Society Ralph and Marion Falk Medical Research Trust Entertainment Industry Fund National Women's Cancer Research Alliance University of California, Los Angeles Jonsson Comprehensive Cancer Center Foundation: Breast Cancer Research Foundation University of California, San Francisco Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center Cancer Research UK University of Pennsylvania: National Institutes of Health (NIH) R01 CA102776 R01 CA083855 Susan G Komen for the Cure, Basser Center for BRCA Victorian Familial Cancer Trials Group (VFCTG): Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation 5U01 CA113916 R01 CA140323 ISCIIIRETIC RD06/0020/1051 PI09/02483 PI10/01422 PI10/00748 PI13/00285 PI13/00189 2009SGR290 PI13/00189 2009SGR283 CA125183 R01 CA142996 1U01CA161032

Published
2015
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24. Transpyloric enteral nutrition in the critically ill child with renal failure

Author

Angel Carrillo, Jesús López-Herce, Dolores Vigil, César Sánchez, Amaya Bustinza, Santiago Mencía, and Maria José Santiago

Subjects
Male, Pediatrics, medicine.medical_specialty, Adolescent, Critical Illness, medicine.medical_treatment, Intensive Care Units, Pediatric, Critical Care and Intensive Care Medicine, Enteral administration, Enteral Nutrition, Intensive care, medicine, Humans, Prospective Studies, Renal replacement therapy, Child, Prospective cohort study, Pylorus, Chi-Square Distribution, business.industry, Infant, Newborn, Infant, Acute Kidney Injury, Abdominal distension, medicine.disease, Surgery, Renal Replacement Therapy, Treatment Outcome, Parenteral nutrition, Child, Preschool, Female, medicine.symptom, business, Complication, Kidney disease
Abstract

To study the efficacy and tolerance of transpyloric enteral nutrition (TEN) in the critically ill child with acute renal failure (ARF). Prospective observational study. Paediatric intensive care unit. Critically ill children with ARF who received TEN were included in the study. They were compared with the remaining 473 critically ill children receiving TEN in this period. Tolerance of nutrition and gastrointestinal complications were assessed. Transpyloric enteral nutrition. Fifty-three critically ill children with ARF aged between 3 days and 17 years received TEN. Children with ARF more frequently received parenteral nutrition before TEN (56.6%) than the other patients (17.5%). The incidence of shock, hepatic alterations and mortality was significantly higher in patients with ARF than in the remaining children. In children with ARF the mean duration of the TEN was 16.5 ± 27.3 days and the maximum caloric intake was 77 ± 26.7 kcal/kg/day. Thirteen patients (24.5%) presented gastrointestinal complications, 9 (17%) abdominal distension and/or excessive gastric residue, 5 (9.4%) diarrhoea, 1 necrotising enterocolitis and 1 duodenal perforation. The frequency of gastrointestinal complications was significantly higher in children with ARF. TEN was definitive suspended in five patients due to gastrointestinal complications. Four of these patients were treated with continuous renal replacement therapy. Thirty percent of patients died during TEN. In only one patient was the death related to complications of the nutrition. Critically ill children with ARF tolerate TEN, although the incidence of gastrointestinal complications is higher than in other critically ill children.

Published
2006
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25. Prognosis in critically ill children requiring continuous renal replacement therapy

Author

Kay B. Brandstrup, Marta Rupérez, Amaya Bustinza, Carmen Fernández, Jesús López-Herce, Dolores Galaviz, and Jose C. Flores

Subjects
Male, Nephrology, medicine.medical_specialty, Epinephrine, Critical Illness, Multiple Organ Failure, medicine.medical_treatment, Renal function, Blood Pressure, Hemodiafiltration, Risk Assessment, chemistry.chemical_compound, Predictive Value of Tests, Internal medicine, Hemofiltration, medicine, Risk of mortality, Humans, Prospective Studies, Renal replacement therapy, Child, Cause of death, Creatinine, Dose-Response Relationship, Drug, business.industry, Infant, Prognosis, Surgery, Renal Replacement Therapy, Blood pressure, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business
Abstract

We performed an observational prospective study in 53 critically ill children to analyze the prognostic factors of children requiring continuous renal replacement therapy. Pediatric index of mortality (PIM), pediatric risk of mortality score (PRISM), multi-organ failure score, serum lactate levels, blood pressure, vasoactive drugs, renal function and characteristics of renal replacement therapy were analyzed. The mortality was 32.1%, with multi-organ failure being the most frequent cause of death (59%). The children who died presented a significantly lower blood pressure and required more doses of vasoactive drugs, dopamine and epinephrine than did the survivors. The PRISM and PIM scores and the serum lactate levels and the number of organs suffering failure were significantly higher in the patients who died than in the survivors. However, the PRISM and PIM scores underestimated the risk of mortality. The age, sex, urea and creatinine levels, type of pump and volume of ultrafiltrate did not affect the prognosis. The association of a mean BP55 mmHg and epinephrine dose0.6 mug/kg/min was predictive of mortality in 76% of the patients. We conclude that the prognosis in children requiring renal replacement therapy depends on the severity of the clinical state at the time of starting therapy, principally on the hemodynamic situation.

Published
2005
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26. Elevated carboxyhemoglobin associated with sodium nitroprusside treatment

Author

Jesús López-Herce, Amaya Bustinza, Raúl Borrego, and Angel Carrillo

Subjects
Male, Nitroprusside, Resuscitation, Vasodilator Agents, Critical Care and Intensive Care Medicine, chemistry.chemical_compound, Fatal Outcome, Postoperative Complications, Intensive care, High doses, Humans, Medication Errors, Medicine, business.industry, Critically ill, Infant, Carboxyhemoglobin, chemistry, Child, Preschool, Anesthesia, Heart Transplantation, Female, Sodium nitroprusside, business, medicine.drug
Abstract

To report four cases of carboxyhemoglobinemia associated with high doses of sodium nitroprusside after cardiac transplant in children.Four children in the pediatric care unit of a university hospital aged 6 months-4 years. Carboxyhemoglonemia developed at levels of 5.5-7.7% in patients receiving high doses of sodium nitroprusside (7-16 microg/kg per minute and no other medication that could caused elevated carboxyhemoglobin). One patient died, and three recovered with no sequelae after discontinuation of sodium nitroprusside.High doses of sodium nitroprusside can induce carboxyhemoglobinemia in children after heart transplant, probably by inducing hemeoxygenase, with no other secondary effects.

Published
2005
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27. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Author

Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Thomassen, M., Gerdes, A.-M., Caligo, M. A., Friedman, E., Laitman, Y., Kaufman, B., Paluch, S. S., Borg, A., Karlsson, P., Stenmark Askmalm, M., Barbany Bustinza, G., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benitez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Paterson, J., Eason, J., Godwin, A. K., Remon, M.-A., Moncoutier, V., Gauthier-Villars, M., Lasset, C., Giraud, S., Hardouin, A., Berthet, P., Sobol, H., Eisinger, F., Bressac de Paillerets, B., Caron, O., Delnatte, C., Goldgar, D., Miron, A., Ozcelik, H., Buys, S., Southey, M. C., Terry, M. B., Singer, C. F., Dressler, A.-C., Tea, M.-K., Hansen, T. V. O., Johannsson, O., Piedmonte, M., Rodriguez, G. C., Basil, J. B., Blank, S., Toland, A. E., Montagna, M., Isaacs, C., Blanco, I., Gayther, S. A., Moysich, K. B., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Sutter, C., Gadzicki, D., Fiebig, B., Caldes, T., Laframboise, R., Nevanlinna, H., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Peterlongo, P., Manoukian, S., Bernard, L., Radice, P., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Stoppa-Lyonnet, D., Mazoyer, S., Sinilnikova, O. M., Dumont, M., Greene, M., Glendon, G., Selander, T., Weerasooriya, N., Nordling, M., Bergman, A., Einbeigi, Z., Stenmark-Askmalm, M., Liedgren, S., Loman, N., Olsson, H., Kristoffersson, U., Soller, M., Jernstrom, H., Harbst, K., Henriksson, K., Lindblom, A., Arver, B., von Wachenfeldt, A., Liljegren, A., Barbany-Bustinza, G., Rantala, J., Melin, B., Gronberg, H., Stattin, E.-L., Emanuelsson, M., Ehrencrona, H., Torres, D., Rashid, M. U., Seidel-Renkert, A., Hogervorst, F. B. L., Verhoef, S., Verheus, M., van't Veer, L. J., van Leeuwen, F. E., Collee, M., Jager, A., Hooning, M. J., Tilanus-Linthorst, M. M. A., Seynaeve, C., Wijnen, J. T., Vreeswijk, M. P., Tollenaar, R. A., Ligtenberg, M. J., Hoogerbrugge, N., Ausems, M. G., van der Luijt, R. B., van Os, T. A., Gille, J. J. P., Waisfisz, Q., Meijers-Heijboer, H. E. J., Gomez-Garcia, E. B., van Roozendaal, C. E., Blok, M. J., Caanen, B., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., Vasen, H. F., Cook, M., Platte, R., Miedzybrodzka, Z., Gregory, H., Morrison, P., Jeffers, L., Cole, T., Ong, K.-r., Hoffman, J., Donaldson, A., James, M., Downing, S., Taylor, A., Murray, A., Rogers, M. T., McCann, E., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Brewer, C., Kivuva, E., Searle, A., Goodman, S., Hill, K., Davidson, R., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Jacobs, C., Langman, C., Whaite, A., Dorkins, H., Barwell, J., Chu, C., Miller, J., Ellis, I., Houghton, C., Lalloo, F., Taylor, J., Side, L., Male, A., Berlin, C., Collier, R., Douglas, F., Claber, O., Jobson, I., Walker, L., McLeod, D., Halliday, D., Durell, S., Stayner, B., Shanley, S., Rahman, N., Houlston, R., Bancroft, E., D'Mello, L., Page, E., Ardern-Jones, A., Kohut, K., Wiggins, J., Castro, E., Mitra, A., Robertson, L., Cook, J., Quarrell, O., Bardsley, C., Hodgson, S., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Eccles, D., Lucassen, A., Crawford, G., McBride, D., Smalley, S., Sinilnikova, O., Leone, M., Buecher, B., Houdayer, C., Belotti, M., Tirapo, C., de Pauw, A., Bressac-de-Paillerets, B., Remenieras, A., Byrde, V., Lenoir, G., Bignon, Y.-J., Uhrhammer, N., Bonadona, V., Bourdon, V., Noguchi, T., Coulet, F., Colas, C., Soubrier, F., Coupier, I., Pujol, P., Peyrat, J.-P., Fournier, J., Revillion, F., Vennin, P., Adenis, C., Rouleau, E., Lidereau, R., Demange, L., Nogues, C., Muller, D., Fricker, J.-P., Longy, M., Sevenet, N., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Leroux, D., Dreyfus, H., Rebischung, C., Coron, F., Faivre, L., Prieur, F., Lebrun, M., Ferrer, S. F., Frenay, M., Venat-Bouvet, L., Mortemousque, I., Lynch, H. T., Snyder, C. L., Ejlertsen, B., Andersen, M. K., Kjaergaard, S., Senter, L., Sweet, K., O'Connor, M., Craven, C., Pharoah, P., Ramus, S., Pye, C., Harrington, P., Wozniak, E., Varon-Mateeva, R., Kast, K., Preisler-Adams, S., Deissler, H., Schonbuchner, I., Heinritz, W., Schafer, D., Aittomaki, K., Blomqvist, C., Heikkinen, T., Erkkila, R. N. I., Thorne, H., Niedermayr, E., de la Hoya, M., Perez-Segura, P., Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec, Centre de recherche du CHU Sainte-Justine [Montreal], Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], Department of Pediatrics, CHU Sainte Justine [Montréal], Centre for Cancer Genetic Epidemiology, University of Cambridge [UK] (CAM), Queensland Institute of Medical Research, University of Delaware [Newark], Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics, National Institutes of Health [Bethesda] (NIH)-National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Department of Clinical Genetics, Odense University Hospital, Department of Clinical Genetics [Copenhagen], Rigshospitalet [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, Sackler Faculty of Medicine, Tel Aviv University [Tel Aviv], The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Department of Oncology, Sahlgrenska University Hospital [Gothenburg], Depts of Medicine and Biostatistics and Epidemology, Abramson Family Cancer Research Institute-Perelman School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], Human Genetics Group, Spanish National Cancer Research Centre, Biomedical Research Centre Network for Rare Diseases, CIBER de Enfermedades Raras (CIBERER), Molecular Genetics of Breast Cancer, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Department of Genetic Epidemiology, Leiden University Medical Center (LUMC), Genetic Medicine, Manchester Academic Health Sciences Centre-Central Manchester University Hospitals, Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, Yorkshire Regional Genetics Service, Addenbrookes Hospital, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, génétique, Institut Curie [Paris], Service de Génétique Oncologique, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Equipe de prévention et épidémiologie génétique, Centre Léon Bérard [Lyon], Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Consultation d'Oncogénétique, Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Service d'Oncologie Génétique, de Prévention et Dépistage, Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique oncologique (GO - UMR 8125), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Centre René Gauducheau, CRLCC René Gauducheau, Department of Dermatology, University of Utah School of Medicine [Salt Lake City], Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Samuel Lunenfeld Research Institute, Mount Sinai Hospital [Toronto, Canada] (MSH), Department of Internal Medicine, Huntsman Cancer Institute, Division of Special Gynecology, Medizinische Universität Wien = Medical University of Vienna-Department of OB/GYN, Dept of OB/GYN and Comprehensive Cancer Center, Medizinische Universität Wien = Medical University of Vienna, Faculty of Medicine, University of Iceland [Reykjavik], Statistical and Data Center, Roswell Park Cancer Institute [Buffalo], Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Lombardi Comprehensive Cancer Center, Georgetown University, Genetic Counselling Unit, IDIBELL-Catalan Institute of Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne [Cologne]-Centre of Familial Breast and Ovarian Cancer-Centre for Integrated Oncology (CIO), Institute for Medical Informatics, Statistics and Epidemiology [Leipzig] (IMISE), Universität Leipzig [Leipzig], Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Ludwig-Maximilians-Universität München (LMU), University Hospital of Schleswig-Holstein-Christian-Albrechts-Universität zu Kiel (CAU), University Hospital Düsseldorf-Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Heidelberg University Hospital [Heidelberg], Institute of Cell and Molecular Pathology, Hannover Medical School [Hannover] (MHH), Universität Regensburg (UR), Molecular Oncology Laboratory, Hospital Clínico San Carlos, Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Department of Laboratory Medicine and Pathology, Mayo Clinic, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale Tumouri (INT)-Fondazione Istituto FIRC di Oncologia Molecolare, Unit of Medical Genetics, Fondazione IRCCS Istituto Nazionale Tumouri (INT), Department of Experimental Oncology, Istituto Europeo di Oncologia-Consortium for Genomics Technology (Cogentech), Cancer Research U.K. Genetic Epidemiology Unit, Strangeways Research Laboratory, Genetic Epidemiology Unit, Department of Public Health and Primary Care, Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Equipe 6, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Research Centre, CHU Ste Justine, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Génétique moléculaire, signalisation et cancer (GMSC), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Léon Bérard [Lyon]-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Human Genetics, Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada], Tel Aviv University (TAU), University of Pennsylvania-University of Pennsylvania, Universiteit Leiden-Universiteit Leiden, Nottingham University Hospitals NHS Trust (NUH), Roswell Park Cancer Institute [Buffalo] (RPCI), Georgetown University [Washington] (GU), Universität Leipzig, Centre de Recherche en Cancérologie de Lyon ( CRCL ), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), Génétique moléculaire, signalisation et cancer ( GMSC ), Centre National de la Recherche Scientifique ( CNRS ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique ( CNRS ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre de Recherche en Cancérologie de Lyon ( CRCL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), University of Cambridge [UK] ( CAM ), National Institutes of Health ( NIH ) -National Cancer Institute ( NIH ), Rigshospitalet [Copenhagen]-University of Copenhagen ( KU ), Sahlgrenska University Hospital, Abramson Family Cancer Research Institute-University of Pennsylvania School of Medicine, Deutsches Krebsforschungszentrum ( DKFZ ), INSTITUT CURIE, Laboratoire de Biométrie et Biologie Evolutive ( LBBE ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique ( Inria ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Léon Bérard [Lyon]-Hospices Civils de Lyon ( HCL ), Centre François Baclesse, Centre Régional de Lutte contre le Cancer François Baclesse ( CRLC François Baclesse ), Hôpital Sainte-Marguerite [CHU - APHM] ( Hôpitaux Sud ), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale ( SESSTIM - U912 INSERM - AMU - IRD ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut de Recherche pour le Développement ( IRD ) -Aix Marseille Université ( AMU ), Génétique oncologique ( GO - UMR 8125 ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Mount Sinai Hospital ( MSH ), Medical University of Vienna-Department of OB/GYN, Medical University of Vienna, Institute for Medical Informatics, Statistics and Epidemiology [Leipzig] ( IMISE ), University of Leipzig, Technical University of Munich ( TUM ), Ludwig-Maximilians-Universität München, University Hospital of Schleswig-Holstein-Christian-Albrechts-Universität zu Kiel ( CAU ), University Hospital Düsseldorf-Heinrich-Heine-Universität Düsseldorf [Düsseldorf], Hannover Medical School [Hannover] ( MHH ), University Regensburg, Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Human genetics, and CCA - Oncogenesis

Subjects
endocrine system diseases, Electrophoretic Mobility Shift Assay, MESH : Breast Neoplasms, medicine.disease_cause, Linkage Disequilibrium, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, 0302 clinical medicine, Genes, Reporter, Risk Factors, MESH: Risk Factors, Genotype, MESH : Female, Luciferases, skin and connective tissue diseases, Genetics (clinical), MESH: Genetic Association Studies, MESH: Heterozygote, Genetics, 0303 health sciences, MESH : Linkage Disequilibrium, BRCA1 Protein, MESH: Polymorphism, Single Nucleotide, MESH : Polymorphism, Single Nucleotide, Association Studies Articles, MESH: Genetic Predisposition to Disease, General Medicine, MESH : Genes, Reporter, MESH : Risk Factors, 3. Good health, MESH: Linkage Disequilibrium, 030220 oncology & carcinogenesis, MESH : Electrophoretic Mobility Shift Assay, Female, Breast disease, MESH : Mutation, MESH : Heterozygote, Heterozygote, MESH: Mutation, Single-nucleotide polymorphism, Breast Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, medicine, Humans, MESH : BRCA1 Protein, MESH : HeLa Cells, Genetic Predisposition to Disease, ddc:610, Allele, Molecular Biology, MESH : Haplotypes, Alleles, Genetic Association Studies, 030304 developmental biology, MESH: BRCA1 Protein, MESH : Luciferases, MESH: Humans, Hereditary cancer and cancer-related syndromes [ONCOL 1], MESH: Alleles, Haplotype, MESH : Humans, MESH: Genes, Reporter, Cancer, MESH : Genetic Association Studies, MESH: Haplotypes, medicine.disease, Haplotypes, Mutation, MESH: Electrophoretic Mobility Shift Assay, MESH: HeLa Cells, Cancer research, MESH : Genetic Predisposition to Disease, MESH: Luciferases, Carcinogenesis, MESH : Alleles, MESH: Female, MESH: Breast Neoplasms, HeLa Cells
Abstract

Item does not contain fulltext Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of BRCA1 carried on the wild-type (non-mutated) copy of the BRCA1 gene would modify the risk of breast cancer in carriers of BRCA1 mutations. A total of 9874 BRCA1 mutation carriers were available in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for haplotype analyses of BRCA1. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77-0.95, P = 0.003). Promoter in vitro assays of the major BRCA1 haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription.

Published
2011
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28. Severe ischemia of the lower limb and of the intestine associated with systemic vasoconstrictor therapy and femoral arterial catheterization

Author

Santiago Mencía, Luis Sancho, Raúl Borrego, Angel Carrillo, Amaya Bustinza, and Jesús López-Herce

Subjects
Cardiac output, Vasopressin, Ischemia, Lypressin, Femoral artery, Critical Care and Intensive Care Medicine, Fatal Outcome, medicine.artery, Catheterization, Peripheral, medicine, Humans, Vasoconstrictor Agents, Cardiac Output, Pediatric intensive care unit, Leg, business.industry, Infant, medicine.disease, Femoral Artery, Intestines, Catheter, Anesthesia, Shock (circulatory), Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Terlipressin, medicine.drug
Abstract

Objective To report a case of peripheral and intestinal ischemia associated with arterial catheterization and terlipressin treatment in a child. Design Case report. Setting Pediatric intensive care unit of a university hospital. Patient The patient was a 2-month-old female infant with shock refractory to treatment with catecholamines, who received treatment with terlipressin (20 microg/kg/4 hrs). In order to monitor her cardiac output, the right femoral artery was catheterized with a 4-Fr PiCCO catheter. At 60 hrs, the patient presented progressive ischemia of the right lower limb and intestinal ischemia. The ischemia did not improve despite withdrawal of the catheter and interruption of the terlipressin administration; it progressed to massive intestinal ischemia, and the patient died. Conclusions Arterial catheterization combined with the administration of vasoconstrictor drugs, particularly vasopressin or terlipressin, can lead to local ischemic complications and severe intestinal ischemia in infants in shock.

Published
2006
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29. Comparison of two models of surgical care for patients with cleft lip and palate in resource-challenged settings

Author

Percy Rossell-Perry, Lorgio Salas-Bustinza, Eddy R. Segura, and Omar Cotrina-Rabanal

Subjects
Male, medicine.medical_specialty, Cardiac Surgery, Cleft Lip, education, Medically Underserved Area, Vascular Surgery, Physical examination, Velopharyngeal insufficiency, Peru, medicine, Humans, Surgery, Plastic, Child, Referral and Consultation, Retrospective Studies, medicine.diagnostic_test, business.industry, Wound dehiscence, Medical record, General surgery, Thoracic Surgery, Infant, Retrospective cohort study, Vascular surgery, medicine.disease, Surgery, Cleft Palate, Exact test, Abdominal Surgery, Cardiothoracic surgery, General Surgery, Child, Preschool, Models, Organizational, Health Resources, Female, business, Delivery of Health Care
Abstract

The Peruvian health system is limited in providing specialized care for patients with clefts because there are an insufficient number of hospitals and few specially trained doctors in rural areas of the country. The most common model of care in these areas is the surgical mission wherein experienced cleft surgeons perform surgeries and teach local doctors. The purpose of this research was to identify the differences in outcome between the surgical mission trip and the referral center model of care provided by the same team. A retrospective analysis (2002–2012) was performed on data from surgical outcomes provided by the Outreach Surgical Center Lima that utilized both models of care (surgical mission and referral center). A total of 935 procedures were performed in 680 patients with clefts who were treated by the Outreach Surgical Center Program Lima since 2002. Patients in both groups were identified from our records (medical records and screening-day registries). All patients underwent a physical examination, had photographs taken, and any unfavorable results and complications were documented. Comparison of categorical variables (including outcomes) between care models was performed using Pearson’s χ 2 test or Fisher’s exact test when appropriate. In all cases a two-tailed test was performed and the p value for rejecting the null hypothesis (no difference or no association) was set at 0.05. We found significant differences between the two models of care with respect to unilateral cleft lip and cleft palate dehiscence (p = 0.02 and p = 0.04, respectively), palate postoperative hemorrhage (p

Published
2013

30. Methylation and histone deacetylase inhibition in combination with platinum treatment in patients with advanced malignancies

Author

Wei Hu, Kristin L. Parkhurst, Ernesto Bustinza-Linares, David S. Hong, Siqing Fu, Jennifer J. Wheler, Aung Naing, Anil K. Sood, Gerald S. Falchook, Stacy L. Moulder, and Razelle Kurzrock

Subjects
Adult, Male, Azacitidine, Antineoplastic Agents, Pharmacology, Biology, Neutropenia, Article, Carboplatin, Histones, chemistry.chemical_compound, Neoplasms, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Pharmacology (medical), Adverse effect, Aged, Valproic Acid, Acetylation, DNA Methylation, Middle Aged, medicine.disease, Histone Deacetylase Inhibitors, Receptors, TNF-Related Apoptosis-Inducing Ligand, Oncology, chemistry, DNA methylation, Female, Histone deacetylase, Ovarian cancer, medicine.drug
Abstract

Purpose The combination of DNA methylation inhibitors and histone deacetylase inhibitors is synergistic in gene expression activation and may overcome platinum resistance. Sequential treatment with azacitidine and valproic acid (VPA) in combination with carboplatin may overcome resistance to platinum-based therapy, and we conducted a phase I trial to assess safety, maximum tolerated dose (MTD), and clinical correlates. Experimental Design Patients with advanced solid tumors refractory to standard therapy were eligible. In cohorts of escalating doses, patients received azacitidine for 5 days from days 1 to 5, VPA for 7 days from days 5 to 11, and carboplatin starting in the second cycle on days 3 and 10. Clinical correlates included evaluation of epigenetic changes, methylation patterns, and histone acetylation levels in peripheral blood mononuclear cells. Results Thirty-two patients were treated. The MTD was 75 mg/m2 azacitidine, 20 mg/kg VPA, and AUC 3.0 carboplatin. Minor responses or stable disease lasting ≥4 months were achieved by six patients (18.8 %), including three with platinum-resistant or platinum-refractory ovarian cancer. The most common adverse events grade ≥3 were fatigue (81 %) and neutropenia (69 %). Dose-limiting toxicity occurred in six patients (18.8 %), including four patients with grade 3 altered mental status. Death receptor 4 (DR4) methylation was shown to decrease in a subset of patients, but there was no relationship with tumor response or number of cycles received. Conclusions Combination of azacitidine, VPA, and carboplatin demonstrates decreased DR4 methylation and modest evidence of antitumor activity in patients with heavily treated advanced malignancies.

Published
2013

31. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Author

Couch, Fergus J., Xianshu, Wang, Lesley, Mcguffog, Andrew, Lee, Curtis, Olswold, Kuchenbaecker, Karoline B., Penny, Soucy, Zachary, Fredericksen, Daniel, Barrowdale, Joe, Dennis, Gaudet, Mia M., Dicks, Ed, Matthew, Kosel, Sue, Healey, Sinilnikova, Olga M., Adam, Lee, François, Bacot, Daniel, Vincent, Hogervorst, Frans B. L., Susan, Peock, Dominique Stoppa Lyonnet, Anna, Jakubowska, Paolo, Radice, Rita Katharina Schmutzler, Domchek, S. M., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Greene, M. H., Karlan, B. Y., Garber, J., Phelan, C. M., Weitzel, J. N., Montagna, M., Olah, E., Andrulis, I. L., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Nevanlinna, H., Osorio, A., Terry, M. B., Daly, M. B., Van Rensburg, E. J., Hamann, U., Ramus, S. J., Ewart Toland, A., Caligo, M. A., Olopade, O. I., Tung, N., Claes, K., Beattie, M. S., Southey, M. C., Imyanitov, E. N., Tischkowitz, M., Janavicius, R., John, E. M., Kwong, A., Diez, O., Balmana, J., Barkardottir, R. B., Arun, B. K., Rennert, G., Teo, S. H., Ganz, P. A., Campbell, I., Van Der Hout, A. H., Van Deurzen, C. H. M., Seynaeve, C., Gomez Garcia, E. B., Van Leeuwen, F. E., Meijers Heijboer, H. E. J., Gille, J. J. P., Ausems, M. G. E. M., Blok, M. J., Ligtenberg, M. J. L., Rookus, M. A., Devilee, P., Verhoef, S., Van Os, T. A. M., Wijnen, J. T., Frost, D., Ellis, S., Fineberg, E., Platte, R., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., Eccles, D. M., Cook, J., Brewer, C., Douglas, F., Hodgson, S., Morrison, P. J., Side, L. E., Donaldson, A., Houghton, C., Rogers, M. T., Dorkins, H., Eason, J., Gregory, H., Mccann, E., Murray, A., Calender, A., Hardouin, A., Berthet, P., Delnatte, C., Nogues, C., Lasset, C., Houdayer, C., Leroux, D., Rouleau, E., Prieur, F., Damiola, F., Sobol, H., Coupier, I., Venat Bouvet, L., Castera, L., Gauthier Villars, M., Leone, M., Pujol, P., Mazoyer, S., Bignon, Y. J., Zlowocka Perlowska, E., Gronwald, J., Lubinski, J., Durda, K., Jaworska, K., Huzarski, T., Spurdle, A. B., Viel, A., Peissel, B., Bonanni, B., Melloni, G., Ottini, Laura, Papi, L., Varesco, L., Tibiletti, M. G., Peterlongo, P., Volorio, S., Manoukian, S., Pensotti, V., Arnold, N., Engel, C., Deissler, H., Gadzicki, D., Gehrig, A., Kast, K., Rhiem, K., Meindl, A., Niederacher, D., Ditsch, N., Plendl, H., Preisler Adams, S., Engert, S., Sutter, C., Varon Mateeva, R., Wappenschmidt, B., Weber, B. H. F., Arver, B., Stenmark Askmalm, M., Loman, N., Rosenquist, R., Einbeigi, Z., Nathanson, K. L., Rebbeck, T. R., Blank, S. V., Cohn, D. E., Rodriguez, G. C., Small, L., Friedlander, M., Bae Jump, V. L., Fink Retter, A., Rappaport, C., Gschwantler Kaulich, D., Pfeiler, G., Tea, M. K., Lindor, N. M., Kaufman, B., Shimon Paluch, S., Laitman, Y., Skytte, A. B., Gerdes, A. M., Pedersen, I. S., Moeller, S. T., Kruse, T. A., Jensen, U. B., Vijai, J., Sarrel, K., Robson, M., Kauff, N., Mulligan, A. M., Glendon, G., Ozcelik, H., Ejlertsen, B., Nielsen, F. C., Jonson, L., Andersen, M. K., Ding, Y. C., Steele, L., Foretova, L., Teule, A., Lazaro, C., Brunet, J., Pujana, M. A., Mai, P. L., Loud, J. T., Walsh, C., Lester, J., Orsulic, S., Narod, S. A., Herzog, J., Sand, S. R., Tognazzo, S., Agata, S., Vaszko, T., Weaver, J., Stavropoulou, A. V., Buys, S. S., Romero, A., De La Hoya, M., Aittomaki, K., Muranen, T. A., Duran, M., Chung, W. K., Lasa, A., Dorfling, C. M., Miron, A., Benitez, J., Senter, L., Huo, D., Chan, S. B., Sokolenko, A. P., Chiquette, J., Tihomirova, L., Friebel, T. M., Agnarsson, B. A., K. H., Lu, Lejbkowicz, F., James, P. A., Hall, P., Dunning, A. M., Tessier, D., Cunningham, J., Slager, S. L., Wang, C., Hart, S., Stevens, K., Simard, J., Pastinen, T., Pankratz, V. S., Offit, K., Easton, D. F., Chenevix Trench, G., Antoniou, A. C., Thorne, H., Niedermayr, E., Borg, A., Olsson, H., Jernstrom, H., Henriksson, K., Harbst, K., Soller, M., Kristoffersson, U., Ofverholm, A., Nordling, M., Karlsson, P., Von Wachenfeldt, A., Liljegren, A., Lindblom, A., Bustinza, G. B., Rantala, J., Melin, B., Ardnor, C. E., Emanuelsson, M., Ehrencrona, H., Pigg, M. H., Liedgren, S., Hogervorst, F. B. L., Schmidt, M. K., De Lange, J., Collee, J. M., Van Den Ouweland, A. M. W., Hooning, M. J., Van Asperen, C. J., Tollenaar, R. A., Van Cronenburg, T. C. T. E. F., Kets, C. M., Mensenkamp, A. R., Van Der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Oosterwijk, J. C., Van Der Hout, H., Mourits, M. J., De Bock, G. H., Peock, S., Miedzybrodzka, Z., Morrison, P., Jeffers, L., Cole, T., Ong, K. R., Hoffman, J., James, M., Paterson, J., Taylor, A., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Kivuva, E., Searle, A., Goodman, S., Hill, K., Davidson, R., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Jacobs, C., Langman, C., Brady, A., Melville, A., Randhawa, K., Barwell, J., Serra Feliu, G., Ellis, I., Lalloo, F., Taylor, J., Side, L., Male, A., Berlin, C., Collier, R., Claber, O., Jobson, I., Walker, L., Mcleod, D., Halliday, D., Durell, S., Stayner, B., Shanley, S., Rahman, N., Houlston, R., Stormorken, A., Bancroft, E., Page, E., Ardern Jones, A., Kohut, K., Wiggins, J., Castro, E., Killick, E., Martin, S., Rea, G., Kulkarni, A., Quarrell, O., Bardsley, C., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Lehmann, A., Eccles, D., Lucassen, A., Crawford, G., Mcbride, D., Smalley, S., Sinilnikova, O., Barjhoux, L., Verny Pierre, C., Giraud, S., Stoppa Lyonnet, D., Buecher, B., Moncoutier, V., Belotti, M., Tirapo, C., De Pauw, A., Bressac De Paillerets, B., Caron, O., Uhrhammer, N., Bonadona, V., Handallou, S., Bourdon, V., Noguchi, T., Remenieras, A., Eisinger, F., Peyrat, J. P., Fournier, J., Revillion, F., Vennin, P., Adenis, C., Lidereau, R., Demange, L., Muller, D., Fricker, J. P., Barouk Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Dreyfus, H., Rebischung, C., Peysselon, M., Coron, F., Faivre, L., Lebrun, M., Kientz, C., Ferrer, S. F., Frenay, M., Mortemousque, I., Coulet, F., Colas, C., Soubrier, F., Sokolowska, J., Bronner, M., Lynch, H. T., Snyder, C. L., Angelakos, M., Maskiell, J., Dite, G., MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - School for Oncology and Reproduction, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Kastler Brossel (LKB (Jussieu)), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Generalitat de Catalunya, Asociación Española Contra el Cáncer, Fundación Ramón Areces, Instituto de Salud Carlos III, Clinical Genetics, Pathology, Medical Oncology, Pediatric Surgery, Department of Obstetrics and Gynecology, Clinicum, Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Epidemiology and Data Science, Human genetics, CCA - Oncogenesis, Universitat de Barcelona, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, and Human Genetics

Subjects
SELECTION, Oncology, Cancer Research, Medicin och hälsovetenskap, endocrine system diseases, [SDV]Life Sciences [q-bio], 610 Medizin, Càncer d'ovari, SUSCEPTIBILITY ALLELES, MODIFIERS, ComputingMilieux_LEGALASPECTSOFCOMPUTING, Genome-wide association study, QH426-470, Medical and Health Sciences, SUBTYPES, Breast cancer, 0302 clinical medicine, Human genetics, 3123 Gynaecology and paediatrics, Risk Factors, GENETIC-VARIANTS, Genotype, Naturvetenskap, Malalties hereditàries, INVESTIGATORS, skin and connective tissue diseases, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), POPULATION, Ovarian Neoplasms, Genetics, Subtypes, ddc:610, 0303 health sciences, education.field_of_study, Genètica humana, Susceptibility alleles, BRCA1 Protein, COMMON VARIANTS, Breast Cancer Epidemiology, Middle Aged, Prognosis, BRCA2 Protein, 3. Good health, 030220 oncology & carcinogenesis, Female, Natural Sciences, Genetic diseases, Heterozygote, medicine.medical_specialty, Znf365, education, 3122 Cancers, Population, Breast Neoplasms, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Ovarian cancer, Translational research [ONCOL 3], Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Molecular Biology, Selection, ddc:614, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Common variants, CONSORTIUM, Modifiers, Biology and Life Sciences, BRCA1, medicine.disease, R1, Genetic-variants, Cancer and Oncology, Mutation, Investigators, 3111 Biomedicine, ZNF365, Consortium, Genome-Wide Association Study
Abstract

This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- CIMBA et al., BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 × 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers., The study was supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a U.S. Department of Defense Ovarian Cancer Idea award (W81XWH-10-1-0341), grants from the Breast Cancer Research Foundation and the Komen Foundation for the Cure; Cancer Research UK grants C12292/A11174 and C1287/A10118; the European Commission's Seventh Framework Programme grant agreement 223175 (HEALTH-F2-2009-223175). Breast Cancer Family Registry Studies (BCFR): supported by the National Cancer Institute, National Institutes of Health under RFA # CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry (BCFR) and Principal Investigators, including Cancer Care Ontario (U01 CA69467), Cancer Prevention Institute of California (U01 CA69417), Columbia University (U01 CA69398), Fox Chase Cancer Center (U01 CA69631), Huntsman Cancer Institute (U01 CA69446), and University of Melbourne (U01 CA69638). The Australian BCFR was also supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia), and the Victorian Breast Cancer Research Consortium. Melissa C. Southey is a NHMRC Senior Research Fellow and a Victorian Breast Cancer Research Consortium Group Leader. Carriers at FCCC were also identified with support from National Institutes of Health grants P01 CA16094 and R01 CA22435. The New York BCFR was also supported by National Institutes of Health grants P30 CA13696 and P30 ES009089. The Utah BCFR was also supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences, NIH grant UL1 RR025764, and by Award Number P30 CA042014 from the National Cancer Institute. Baltic Familial Breast Ovarian Cancer Consortium (BFBOCC): BFBOCC is partly supported by Lithuania (BFBOCC-LT), Research Council of Lithuania grant LIG-19/2010, and Hereditary Cancer Association (Paveldimo vėžio asociacija)., Latvia (BFBOCC-LV) is partly supported by LSC grant 10.0010.08 and in part by a grant from the ESF Nr.2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/​016.BRCA-gene mutations and breast cancer in South African women (BMBSA): BMBSA was supported by grants from the Cancer Association of South Africa (CANSA) to Elizabeth J. van Rensburg. Beckman Research Institute of the City of Hope (BRICOH): Susan L. Neuhausen was partially supported by the Morris and Horowitz Families Endowed Professorship. BRICOH was supported by NIH R01CA74415 and NIH P30 CA033752. Copenhagen Breast Cancer Study (CBCS): The CBCS study was supported by the NEYE Foundation. Spanish National Cancer Centre (CNIO): This work was partially supported by Spanish Association against Cancer (AECC08), RTICC 06/0020/1060, FISPI08/1120, Mutua Madrileña Foundation (FMMA) and SAF2010-20493. City of Hope Cancer Center (COH): The City of Hope Clinical Cancer Genetics Community Research Network is supported by Award Number RC4A153828 (PI: Jeffrey N. Weitzel) from the National Cancer Institute and the Office of the Director, National Institutes of Health. CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella (CONSIT TEAM): CONSIT TEAM was funded by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project “Hereditary tumors”), Italian Association for Cancer Research (AIRC, IG 8713), Italian Minitry of Health (Extraordinary National Cancer Program 2006, “Alleanza contro il Cancro” and “Progetto Tumori Femminili), Italian Ministry of Education, University and Research (Prin 2008) Centro di Ascolto Donne Operate al Seno (CAOS) association and by funds from Italian citizens who allocated the 5×1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5×1000’). German Cancer Research Center (DKFZ): The DKFZ study was supported by the DKFZ. The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON): HEBON is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, the NWO grant 91109024, the Pink Ribbon grant 110005, and the BBMRI grant CP46/NWO., Epidemiological study of BRCA1 & BRCA2 mutation carriers (EMBRACE): EMBRACE is supported by Cancer Research UK Grants C1287/A10118 and C1287/A11990. D. Gareth Evans and Fiona Lalloo are supported by an NIHR grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Rosalind A. Eeles and Elizabeth Bancroft are supported by Cancer Research UK Grant C5047/A8385. Fox Chase Cancer Canter (FCCC): The authors acknowledge support from The University of Kansas Cancer Center and the Kansas Bioscience Authority Eminent Scholar Program. Andrew K. Godwin was funded by 5U01CA113916, R01CA140323, and by the Chancellors Distinguished Chair in Biomedical Sciences Professorship. German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC): The German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) is supported by the German Cancer Aid (grant no 109076, Rita K. Schmutzler) and by the Center for Molecular Medicine Cologne (CMMC). Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers (GEMO): The GEMO study was supported by the Ligue National Contre le Cancer; the Association “Le cancer du sein, parlons-en!” Award and the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program. Gynecologic Oncology Group (GOG): This study was supported by National Cancer Institute grants to the Gynecologic Oncology Group (GOG) Administrative Office and Tissue Bank (CA 27469), Statistical and Data Center (CA 37517), and GOG's Cancer Prevention and Control Committtee (CA 101165). Drs. Mark H. Greene and Phuong L. Mai were supported by funding from the Intramural Research Program, NCI, NIH. Hospital Clinico San Carlos (HCSC): HCSC was supported by RETICC 06/0020/0021, FIS research grant 09/00859, Instituto de Salud Carlos III, Spanish Ministry of Economy and Competitivity, and the European Regional Development Fund (ERDF)., Helsinki Breast Cancer Study (HEBCS): The HEBCS was financially supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society, the Nordic Cancer Union, and the Sigrid Juselius Foundation. Study of Genetic Mutations in Breast and Ovarian Cancer patients in Hong Kong and Asia (HRBCP): HRBCP is supported by The Hong Kong Hereditary Breast Cancer Family Registry and the Dr. Ellen Li Charitable Foundation, Hong Kong. Molecular Genetic Studies of Breast and Ovarian Cancer in Hungary (HUNBOCS): HUNBOCS was supported by Hungarian Research Grant KTIA-OTKA CK-80745 and the Norwegian EEA Financial Mechanism HU0115/NA/2008-3/ÖP-9. Institut Català d'Oncologia (ICO): The ICO study was supported by the Asociación Española Contra el Cáncer, Spanish Health Research Foundation, Ramón Areces Foundation, Carlos III Health Institute, Catalan Health Institute, and Autonomous Government of Catalonia and contract grant numbers: ISCIIIRETIC RD06/0020/1051, PI09/02483, PI10/01422, PI10/00748, 2009SGR290, and 2009SGR283. International Hereditary Cancer Centre (IHCC): Supported by the Polish Foundation of Science. Katarzyna Jaworska is a fellow of International PhD program, Postgraduate School of Molecular Medicine, Warsaw Medical University. Iceland Landspitali–University Hospital (ILUH): The ILUH group was supported by the Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund. INterdisciplinary HEalth Research Internal Team BReast CAncer susceptibility (INHERIT): INHERIT work was supported by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program, the Canadian Breast Cancer Research Alliance grant 019511 and the Ministry of Economic Development, Innovation and Export Trade grant PSR-SIIRI-701. Jacques Simard is Chairholder of the Canada Research Chair in Oncogenetics., Istituto Oncologico Veneto (IOVHBOCS): The IOVHBOCS study was supported by Ministero dell'Istruzione, dell'Università e della Ricerca and Ministero della Salute (“Progetto Tumori Femminili” and RFPS 2006-5-341353,ACC2/R6.9”). Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab): kConFab is supported by grants from the National Breast Cancer Foundation and the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund; the Cancer Councils of New South Wales, Victoria, Tasmania, and South Australia; and the Cancer Foundation of Western Australia. Amanda B. Spurdle is an NHMRC Senior Research Fellow. The Clinical Follow Up Study was funded from 2001–2009 by NHMRC and currently by the National Breast Cancer Foundation and Cancer Australia #628333. Mayo Clinic (MAYO): MAYO is supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a U.S. Department of Defence Ovarian Cancer Idea award (W81XWH-10-1-0341) and grants from the Breast Cancer Research Foundation and the Komen Foundation for the Cure. McGill University (MCGILL): The McGill Study was supported by Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation, and Export Trade. Memorial Sloan-Kettering Cancer Center (MSKCC): The MSKCC study was supported by Breast Cancer Research Foundation, Niehaus Clinical Cancer Genetics Initiative, Andrew Sabin Family Foundation, and Lymphoma Foundation. Modifier Study of Quantitative Effects on Disease (MODSQUAD): MODSQUAD was supported by the European Regional Development Fund and the State Budget of the Czech Republic (RECAMO, CZ.1.05/2.1.00/03.0101). Women's College Research Institute, Toronto (NAROD): NAROD was supported by NIH grant: 1R01 CA149429-01. National Cancer Institute (NCI): Drs. Mark H. Greene and Phuong L. Mai were supported by the Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Rockville, MD. National Israeli Cancer Control Center (NICCC): NICCC is supported by Clalit Health Services in Israel. Some of its activities are supported by the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), NY. N. N. Petrov Institute of Oncology (NNPIO): The NNPIO study has been supported by the Russian Foundation for Basic Research (grants 11-04-00227, 12-04-00928, and 12-04-01490), the Federal Agency for Science and Innovations, Russia (contract 02.740.11.0780), and through a Royal Society International Joint grant (JP090615). The Ohio State University Comprehensive Cancer Center (OSU-CCG): OSUCCG is supported by the Ohio State University Comprehensive Cancer Center., South East Asian Breast Cancer Association Study (SEABASS): SEABASS is supported by the Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Initiatives Foundation. Sheba Medical Centre (SMC): The SMC study was partially funded through a grant by the Israel Cancer Association and the funding for the Israeli Inherited Breast Cancer Consortium. Swedish Breast Cancer Study (SWE-BRCA): SWE-BRCA collaborators are supported by the Swedish Cancer Society. The University of Chicago Center for Clinical Cancer Genetics and Global Health (UCHICAGO): UCHICAGO is supported by grants from the US National Cancer Institute (NIH/NCI) and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women's Cancer Research Alliance, and the Breast Cancer Research Foundation. University of California Los Angeles (UCLA): The UCLA study was supported by the Jonsson Comprehensive Cancer Center Foundation and the Breast Cancer Research Foundation. University of California San Francisco (UCSF): The UCSF study was supported by the UCSF Cancer Risk Program and the Helen Diller Family Comprehensive Cancer Center. United Kingdom Familial Ovarian Cancer Registries (UKFOCR): UKFOCR was supported by a project grant from CRUK to Paul Pharoah. University of Pennsylvania (UPENN): The UPENN study was supported by the National Institutes of Health (NIH) (R01-CA102776 and R01-CA083855), Breast Cancer Research Foundation, Rooney Family Foundation, Susan G. Komen Foundation for the Cure, and the Macdonald Family Foundation. Victorian Familial Cancer Trials Group (VFCTG): The VFCTG study was supported by the Victorian Cancer Agency, Cancer Australia, and National Breast Cancer Foundation. Women's Cancer Research Initiative (WCRI): The WCRI at the Samuel Oschin Comprehensive Cancer Institute, Cedars Sinai Medical Center, Los Angeles, is funded by the American Cancer Society Early Detection Professorship (SIOP-06-258-01-COUN).

Published
2013
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32. Nutritional status and clinical outcome of children on continuous renal replacement therapy: a prospective observational study

Author

Ana Isabel Corchado Castillo, Jorge López, José María Bellón, Amaya Bustinza, Jesús López-Herce, Ramón Moral, Maria José Santiago, and Sandra Montoro

Subjects
Male, Nephrology, Pediatrics, medicine.medical_specialty, Critical Illness, medicine.medical_treatment, Nutritional Status, lcsh:RC870-923, Protein-Energy Malnutrition, Cohort Studies, Internal medicine, medicine, Humans, Prospective Studies, Renal replacement therapy, Child, Prospective cohort study, Wasting, Pediatric intensive care unit, business.industry, Mortality rate, Infant, lcsh:Diseases of the genitourinary system. Urology, Renal Replacement Therapy, Treatment Outcome, Child, Preschool, Female, medicine.symptom, Underweight, business, Research Article, Cohort study
Abstract

Background No studies on continuous renal replacement therapy (CRRT) have analyzed nutritional status in children. The objective of this study was to assess the association between mortality and nutritional status of children receiving CRRT. Methods Prospective observational study to analyze the nutritional status of children receiving CRRT and its association with mortality. The variables recorded were age, weight, sex, diagnosis, albumin, creatinine, urea, uric acid, severity of illness scores, CRRT-related complications, duration of admission to the pediatric intensive care unit, and mortality. Results The sample comprised 174 critically ill children on CRRT. The median weight of the patients was 10 kg, 35% were under percentile (P) 3, and 56% had a weight/P50 ratio of less than 0.85. Only two patients were above P95. The mean age for patients under P3 was significantly lower than that of the other patients (p = 0.03). The incidence of weight under P3 was greater in younger children (p = 0.007) and in cardiac patients and in those who had previous chronic renal insufficiency (p = 0.047). The mortality analysis did not include patients with pre-existing renal disease. Mortality was 38.9%. Mortality for patients with weight < P3 was greater than that of children with weight > P3 (51% vs 33%; p = 0.037). In the univariate and multivariate logistic regression analyses, the only factor associated with mortality was protein-energy wasting (malnutrition) (OR, 2.11; 95% CI, 1.067-4.173; p = 0.032). Conclusions The frequency of protein-energy wasting in children who require CRRT is high, and the frequency of obesity is low. Protein-energy wasting is more frequent in children with previous end-stage renal disease and heart disease. Underweight children present a higher mortality rate than patients with normal body weight.

Published
2012

33. [Domiciliary mechanical ventilation in children: a Spanish multicentre study]

Author

R, González Cortés, A, Bustinza Arriortua, M, Pons Ódena, M A, García Teresa, M, Cols Roig, M, Gaboli, S, García Martinez, E, Oñate Vergara, D, García Urabayen, A, Castillo Serrano, J, López González, A, Salcedo Posadas, A, Rodríguez Nuñez, M C, Luna Paredes, A, Hernández González, C, González Hervas, A, Medina Villanueva, E, Pérez Ruíz, A, Callejón Callejón, R, Tosca Segura, M, Herranz Aguirre, A, Lamas Ferreiro, and J, López-Herce Cid

Subjects
Male, Cross-Sectional Studies, Adolescent, Spain, Child, Preschool, Humans, Infant, Female, Child, Home Care Services, Respiration, Artificial
Abstract

Domiciliary mechanical ventilation (DMV) use is increasing in children. Few studies have analysed the characteristics of patients using this technique.An observational, descriptive, transversal, multicentre study was conducted on patients between 1 month and 16 years of age dependent on domiciliary mechanical ventilation.A total of 163 patients with a median age of 7.6 years from 17 Spanish hospitals were studied. The main reasons for DMV were neuromuscular disorders. The median age at beginning of DMV was 4.6 years. Almost three-quarters (71.3%) received non-invasive ventilation. Patients depending on invasive ventilation were younger, started DMV at an earlier age, and had more hours of mechanical ventilation per day. The large majority (80.9%) used DMV during sleep time only, and 11.7% during the whole day. Only 3.4% of patients had external health assistance. Just under half (48.2%) were being followed up in specific DMV or multidisciplinary clinics. Almost three-quarters (72.1%) of patients attended school (42.3% with adapted schooling). Only 47.8% of school patients had specific caregivers in their schools.DMV in children is used in a very heterogeneous group of patients, and in an important number of patients it is started before the third year of life. Despite there being a significant proportion of patients with a high dependency on DMV, few families receive specific support at home or at school, and health care surveillance is variable and poorly coordinated.

Published
2012

34. Impact on knowledge and practice of an intervention to control catheter infection in the ICU

Author

M, Guembe, A, Pérez-Parra, E, Gómez, M, Sánchez-Luna, A, Bustinza, E, Zamora, A, Carrillo-Álvarez, A, Cuenca, B, Padilla, P, Martín-Rabadán, E, Bouza, and Ma Nieves Moro, Tejedor

Subjects
Microbiology (medical), Program evaluation, Male, medicine.medical_specialty, Catheterization, Central Venous, Health Knowledge, Attitudes, Practice, health care facilities, manpower, and services, Health Personnel, MEDLINE, Intensive Care Units, Pediatric, Statistics, Nonparametric, Risk Factors, Intensive care, Intervention (counseling), Surveys and Questionnaires, Health care, medicine, Humans, Prospective Studies, Intensive care medicine, Prospective cohort study, Hospitals, Teaching, Bacteria, business.industry, Incidence (epidemiology), Incidence, Infant, Newborn, Infant, General Medicine, Bacterial Infections, Infectious Diseases, Spain, Catheter-Related Infections, Child, Preschool, Emergency medicine, Practice Guidelines as Topic, Intensive Care, Neonatal, Female, business, Educational program, Program Evaluation
Abstract

Information on the impact of care bundles has been mainly acquired in adult intensive care units (ICUs). However, specific data for educational programs are scarce. Our objective was to analyze the impact of an educational program on the knowledge and prevention of catheter-related bloodstream infection (CRBSI) in two pediatric intensive care units (P-ICUs). A prospective study was carried out at a large teaching institution in Madrid, Spain. Healthcare workers’ (HCWs) knowledge of guidelines for the prevention of CRBSI was assessed before and after the educational program using a questionnaire covering 12 issues. A 20-min program was offered to all HCWs on each ICU shift. The incidence density of CRBSI was assessed before, during, and after the educational program. A total of 174 questionnaires were completed by HCWs from both the neonatal ICU (N-ICU) and the P-ICU before the intervention and 54 were completed after the intervention (120 participants were not present during this period). The incidence density of CRBSI before, during, and after the intervention was 6.2, 5.2, and 9.3 in the N-ICU and 2.2, 3.1, and 2.9 in the P-ICU (p > 0.05). A single 20-min educational intervention on the prevention of CRBSI significantly improved HCWs’ knowledge, but was not enough to reduce the incidence density of CRBSI.

Published
2012

35. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Couch, F.J., Gaudet, M.M., Antoniou, A.C., Ramus, S.J., Kuchenbaecker, K.B., Soucy, P., Beesley, J., Chen, X.Q., Wang, X.S., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O.M., Andrulis, I.L., Ozcelik, H., Mulligan, A.M., Thomassen, M., Gerdes, A.M., Jensen, U.B., Skytte, A.B., Kruse, T.A., Caligo, M.A., Wachenfeldt, A. von, Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Nathanson, K.L., Rebbeck, T.R., Domchek, S.M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Gorski, B., Osorio, A., Duran, M., Tejada, M.I., Benitez, J., Hamann, U., Hogervorst, F.B.L., Os, T.A. van, Leeuwen, F.E. van, Meijers-Heijboer, H.E.J., Wijnen, J., Blok, M.J., Kets, M., Hooning, M.J., Oldenburg, R.A., Ausems, M.G.E.M., Peock, S., Frost, D., Ellis, S.D., Platte, R., Fineberg, E., Evans, D.G., Jacobs, C., Eeles, R.A., Adlard, J., Davidson, R., Eccles, D.M., Cole, T., Cook, J., Paterson, J., Brewer, C., Douglas, F., Hodgson, S.V., Morrison, P.J., Walker, L., Porteous, M.E., Kennedy, M.J., Side, L.E., Bove, B., Godwin, A.K., Stoppa-Lyonnet, D., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leone, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Lynch, H.T., Snyder, C.L., Buys, S.S., Daly, M.B., Terry, M., Chung, W.K., John, E.M., Miron, A., Southey, M.C., Hopper, J.L., Goldgar, D.E., Singer, C.F., Rappaport, C., Tea, M.K.M., Fink-Retter, A., Hansen, T.V.O., Nielsen, F.C., Arason, A., Vijai, J., Shah, S., Sarrel, K., Robson, M.E., Piedmonte, M., Phillips, K., Basil, J., Rubinstein, W.S., Boggess, J., Wakeley, K., Ewart-Toland, A., Montagna, M., Agata, S., Imyanitov, E.N., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Feliubadalo, L., Brunet, J., Gayther, S.A., Pharoah, P.P.D., Odunsi, K.O., Karlan, B.Y., Walsh, C.S., Olah, E., Teo, S.H., Ganz, P.A., Beattie, M.S., Rensburg, E.J. van, Dorfling, C.M., Diez, O., Kwong, A., Schmutzler, R.K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Heidemann, S., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Fiebig, B., Heinritz, W., Caldes, T., Hoya, M. de la, Muranen, T.A., Nevanlinna, H., Tischkowitz, M., Spurdle, A.B., Neuhausen, S.L., Ding, Y.C., Lindor, N.M., Fredericksen, Z., Pankratz, V.S., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Bernard, L., Viel, A., Giannini, G., Varesco, L., Radice, P., Greene, M.H., Mai, P.L., Easton, D.F., Chenevix-Trench, G., Offit, K., Simard, J., OCGN, SWE-BRCA, HEBON, EMBRACE, GEMO Study Collaborators, kConFab Investigators, Consortium Investigators Modifiers, European Commission, National Institutes of Health (US), Breast Cancer Research Foundation, Cancer Research UK, Columbia University, Fundación Mutua Madrileña, Asociación Española Contra el Cáncer, Ministerio de Ciencia e Innovación (España), National Institute for Health Research (UK), University of Helsinki, Generalitat de Catalunya, Instituto de Salud Carlos III, Ministero dell'Istruzione, dell'Università e della Ricerca, Ministero della Salute, National Health and Medical Research Council (Australia), Instituto Nacional del Cáncer (España), National Cancer Institute (US), Avon Foundation for Women, VU University medical center, Human genetics, CCA - Oncogenesis, Clinical Genetics, Pediatric Surgery, Neurology, Medical Oncology, MUMC+: DA KG Lab Centraal Lab (9), Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human Genetics, CCA -Cancer Center Amsterdam, and ARD - Amsterdam Reproduction and Development

Subjects
Oncology, endocrine system diseases, Epidemiology, Estrogen receptor, Breast Neoplasms - epidemiology - genetics - metabolism, DCN PAC - Perception action and control, Immunoenzyme Techniques, 0302 clinical medicine, Risk Factors, Genotype, skin and connective tissue diseases, Ovarian Neoplasms, 0303 health sciences, Ovarian Neoplasms - epidemiology - genetics - metabolism, BRCA1 Protein, Middle Aged, BRCA2 Protein, Prognosis, 3. Good health, DNA-Binding Proteins, Receptors, Estrogen, Risk factors for breast cancer, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female, Adult, medicine.medical_specialty, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Breast Neoplasms, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], 030304 developmental biology, Aged, Chromosomes, Human, Pair 19 - genetics, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Cancer, BRCA1 Protein - genetics, medicine.disease, United States, BRCA2 Protein - genetics, Immunology, Mutation, Ovarian cancer, business, Chromosomes, Human, Pair 19, Genome-Wide Association Study, Transcription Factors
Abstract

PMCID: PMC3319317.-- et al., [Background]: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). [Methods]: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. [Results]: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10(-4)) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10(-3)). [Conclusions]: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. [Impact]: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers., This research was supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a U.S. Department of Defence Ovarian Cancer Idea award (W81XWH-10-1-0341), and grants from the Breast Cancer Research Foundation and the Komen Foundation for the Cure. This work was also supported by Cancer Research UK (CR-UK) grants C12292/A11174 and C1287/A10118. The research leading to these results has received funding from the European Community's Seventh Framework Programme under grant agreement no. 223175 (HEALTH-F2-2009-223175). Support was also provided by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program and by the Canadian Breast Cancer Research Alliance-grant #019511., A.C. Antoniou is a CR-UK Senior Cancer Research Fellow. D.F. Easton is CR-UK Principal Research Fellow. G. Chenevix-Trench6 is a NHMRC Senior Principal Research Fellow. BFBOCC was supported by the Research Council of Lithuania grant LIG-19/2010 to R. Janavicius. BMBSA was supported by grants from the Cancer Association of South Africa (CANSA) to E.J. van Rensburg. BCFR was supported by the National Cancer Institute, NIH under RFA-CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry (BCFR) and Principal Investigators, including Cancer Care Ontario (U01 CA69467), Columbia University (U01 CA69398), Fox Chase Cancer Center (U01 CA69631), Huntsman Cancer Institute (U01 CA69446), Cancer Prevention Institute of California (formerly the Northern California Cancer Center; U01 CA69417), University of Melbourne (U01 CA69638), and Research Triangle Institute Informatics Support Center (RFP No. N02PC45022-46). CBCS was supported by The Neye Foundation. CNIO was partially supported by Fundación Mutua Madrileña, Asociación Española Contra el Cáncer, the Spanish Ministry of Science and Innovation (FIS PI08 1120), and the Basque Foundation for Health Innovation and Research (BIOEF): BIO07/CA/006. CONSIT TEAM was supported by grants from Ministero della Salute (Extraordinary National Cancer Program 2006 “Alleanza contro il Cancro” to L. Varesco and P. Radice, and “Progetto Tumori Femminili” to P. Radice), Ministero dell'Universita' e Ricerca (RBLAO3-BETH to P. Radice), Fondazione Italiana per la Ricerca sul Cancro (Special Project “Hereditary tumors” to P. Radice), Associazione Italiana per la Ricerca sul Cancro (4017 to P. Pujol), and by funds from Italian citizens who allocated the 5 × 1,000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects “5 × 1000”)., The DKFZ study was supported by funds from the DKFZ. EMBRACE was supported by CR-UK Grants C1287/A10118 and C1287/A11990. D.G. Evans and Fiona Lalloo were supported by an NIHR grant to the Biomedical Research Centre, Manchester, UK. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust were supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. R.A. Eeles, Elizabeth Bancroft, and Lucia D'Mello were supported by CR-UK Grant C5047/A8385. GC-HBOC was supported by a grant of the German Cancer Aid (grant 109076) and by the Centre of Molecular Medicine Cologne (CMMC). The GEMO study was supported by the Ligue National Contre le Cancer; Association for International Cancer Research Grant (AICR-07-0454); and the Association “Le cancer du sein, parlons-en!” Award. The Georgetown study was supported by the Familial Cancer Registry at Georgetown University (NIH/NCI grant P30-CA051008), the Cancer Genetics Network (HHSN261200744000C), and Swing Fore the Cure. GOG was supported through funding provided by both intramural (Clinical Genetics Branch, DCEG) and extramural (Community Oncology and Prevention Trials Program—COPTRG) NCI programs. K. Phillips is the Cancer Council Victoria, Colebatch Clinical Research Fellow. HEBCS was supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society, and the Sigrid Juselius Foundation. The HEBON study was supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, and the ZonMW grant 91109024. HUNBOCS was supported by the Hungarian Research Grant KTIA-OTKA CK-80745. ICO was supported by Asociación Española Contra el Cáncer, Spanish Health Research Fund; Carlos III Health Institute; Catalan Health Institute and Autonomous Government of Catalonia; contract grant numbers ISCIIIRETIC RD06/0020/1051, PI10/01422, PI10/31488, and 2009SGR290. IHCC was supported by a Polish Foundation of Science award to K. Jaworska, a fellow of International PhD program, Postgraduate School of Molecular Medicine, Warsaw Medical University. ILUH was supported by the Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund., INHERIT was supported with J. Simard, Chairholder of the Canada Research Chair in Oncogenetics. IOVHBOCS was supported by Ministero dell'Istruzione, dell'Università e della Ricerca (MIUR), and “Ministero della Salute” (“Progetto Tumori Femminili and grant numbers RFPS 2006-5-341353, ACC2/R6.9”). kConFab was supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC), and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania, and South Australia, and the Cancer Foundation of Western Australia. The kConFab Clinical Follow-Up Study was funded by the NHMRC [145684, 288704, 454508]. A.-B. Skytte is supported by a NHMRC Senior Research Fellowship. A.K. Godwin was funded by U01CA69631, 5U01CA113916, and the Eileen Stein Jacoby Fund while at FCCC. The author acknowledges support from The University of Kansas Cancer Center and the Kansas Bioscience Authority Eminent Scholar Program. A.K. Godwin is the Chancellors Distinguished Chair in Biomedical Sciences endowed Professor. The McGill study was supported by the Jewish General Hospital Weekend to End Breast Cancer. M. Thomassen holds a Fonds de la Recherche en Santé du Québec clinician-scientist award. The MSKCC study was supported by the Starr Cancer Consortium, the Breast Cancer Research Foundation, the Norman and Carol Stone Cancer Research Initiative, the Kate and Robert Niehaus Clinical Cancer Research Initiative, the Lymphoma Foundation, and the Sabin Family Research Initiative. The NCI study was supported by the Intramural Research Program of the U.S. National Cancer Institute and by support services contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Inc. NNPIO was supported by the Russian Federation for Basic Research (grants 10-04-92601, 10-04-92110, 11-04-00227) and the Federal Agency for Science and Innovations (contract 16.512.11.2237)., OCGN was supported by Cancer Care Ontario and the U.S. National Cancer Institute, NIH under RFA # CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry (BCFR) and Principal Investigators. OSU-CCG was supported by the Ohio State University Comprehensive Cancer Center. PBCS was supported by an Instituto Toscano Tumori grant to M.A. Caligo. SEABASS was supported by CARIF and University Malaya. The UCSF study was supported by the Helen Diller Family Comprehensive Cancer Center at UCSF, the Avon Foundation, and the Center for Translational and Policy Research in Personalized Medicine (TRANSPERS), NIH/NCI P01 CA130818-02A1. UKFOCR was supported by a project grant from CRUK to P.P.D. Pharoah. The UPENN study was supported Komen Foundation for the Cure to S.M. Domchek, the Breast Cancer Research Foundation to K.L. Nathanson, and NIH grants R01-CA083855 and R01-CA102776 to T.R. Rebbeck. WCRI was supported by the American Cancer Society Clinical Research Professorship #SIOP-06-258-06-COUN.

Published
2012
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36. Guidelines for preventing catheter infection: assessment of knowledge and practice among paediatric and neonatal intensive care healthcare workers

Author

Emilio Bouza, V. Pérez Sheriff, A. Bustinza, M. Sánchez Luna, A. Carrillo-Álvarez, and María Guembe

Subjects
Microbiology (medical), Male, endocrine system, Health Knowledge, Attitudes, Practice, Catheters, Attitude of Health Personnel, Health Personnel, Intensive Care Units, Pediatric, law.invention, Nursing, law, Daily practice, Intensive care, Intensive Care Units, Neonatal, Surveys and Questionnaires, Health care, Medicine, Humans, Care bundle, Prospective Studies, Individual knowledge, business.industry, Continuing education, General Medicine, Hospitals, Pediatric, Intensive care unit, Catheter, Infectious Diseases, Spain, Catheter-Related Infections, Female, Guideline Adherence, business
Abstract

Summary We analysed knowledge of and adherence to guidelines for the prevention of catheter-related infection (CRI) among Spanish healthcare workers (HCWs) from paediatric and neonatal intensive care units by distributing 357 questionnaires to 31 Spanish hospitals. The overall mean scores for individual knowledge and daily practice were 5.61 and 5.78, respectively. Our results reveal room for improvement in Spanish HCWs' knowledge of prevention of CRI. Continuing education programmes and implementation of care bundles must be introduced to improve prevention and management of CRI.

Published
2011

37. Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

Author

Osorio, A., Milne, R.L., Alonso, R., Pita, G., Peterlongo, P., Teule, A., Nathanson, K.L., Domchek, S.M., Rebbeck, T., Lasa, A., Konstantopoulou, I., Hogervorst, F.B., Verhoef, S., Dooren, M.F. van, Jager, A., Ausems, M.G.E.M., Aalfs, C.M., Asperen, C.J. van, Vreeswijk, M., Waisfisz, Q., Roozendaal, C.E. van, Ligtenberg, M.J., Easton, D.F., Peock, S., Cook, M., Oliver, C.T., Frost, D., Curzon, B., Evans, D.G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Adlard, J., Eccles, D., Ong, K.R., Douglas, F., Downing, S., Brewer, C., Walker, L., Nevanlinna, H., Aittomaki, K., Couch, F.J., Fredericksen, Z., Lindor, N.M., Godwin, A., Isaacs, C., Caligo, M.A., Loman, N., Jernstrom, H., Barbany-Bustinza, G., Liljegren, A., Ehrencrona, H., Stenmark-Askmalm, M., Feliubadalo, L., Manoukian, S., Peissel, B., Zaffaroni, D., Bonanni, B., Fortuzzi, S., Johannsson, O.T., Chenevix-Trench, G., Chen, X.C., Beesley, J., Spurdle, A.B., Sinilnikova, O.M., Healey, S., McGuffog, L., Antoniou, A.C., Brunet, J., Radice, P., Benitez, J., HEBON, EMBRACE, SWE-BRCA, kConFab, CIMBA, Clinical Genetics, Medical Oncology, Erasmus School of Social and Behavioural Sciences, Human Genetics, Humane Biologie, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human genetics, CCA - Oncogenesis, and EMGO - Lifestyle, overweight and diabetes

Subjects
Cancer Research, XRCC1, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, Synthetic lethality, 0302 clinical medicine, skin and connective tissue diseases, Genetics, Aged, 80 and over, 0303 health sciences, Focus Groups, Middle Aged, 3. Good health, DNA-Binding Proteins, MEDICIN, Phenotype, Oncology, 030220 oncology & carcinogenesis, Female, Adult, Heterozygote, Adolescent, DNA repair, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, breast cancer, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], medicine, Humans, Genetic Predisposition to Disease, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Gene, 030304 developmental biology, XRCC1 Gene, Aged, Hereditary cancer and cancer-related syndromes [ONCOL 1], MEDICINE, Carcinoma, Cancer, Genetics and Genomics, Epistasis, Genetic, medicine.disease, BRCA1, BRCA2, X-ray Repair Cross Complementing Protein 1, Cancer research, Epistasis
Abstract

BACKGROUND: Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes BRCA1 and BRCA2. The base excision repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of the pathway, PARP1, and both BRCA1 and BRCA2. In this study, we have evaluated the XRCC1 gene that participates in the BER pathway, as phenotypic modifier of BRCA1 and BRCA2. METHODS: Three common SNPs in the gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) were analysed in a series of 701 BRCA1 and 576 BRCA2 mutation carriers. RESULTS: An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3-34, P

Published
2011
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38. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author

Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., Mcguffog, L., Healey, S., Lee, A., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, Giuseppe, Laura Putignano, A., Varesco, L., Radice, P., Mai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A. M., Kruse, T. A., Jensen, U. B., Cruger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch Shimon, S., Friedman, E., Loman, N., Harbst, K., Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Gronwald, J., Huzarski, T., Byrski, T., Cybulski, C., Gorski, B., Osorio, A., Cajal, T. R., Fostira, F., Andres, R., Benitez, J., Hamann, U., Hogervorst, F. B., Rookus, M. A., Hooning, M. J., Nelen, M. R., Van Der Luijt, R. B., Van Os, T. A. M., Van Asperen, C. J., Devilee, P., Meijers Heijboer, H. E. J., Garcia, E. B. G., Peock, S., Cook, M., Frost, D., Platte, R., Leyland, J., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Adlard, J., Davidson, R., Eccles, D., Ong, K. R., Cook, J., Douglas, F., Paterson, J., John Kennedy, M., Miedzybrodzka, Z., Godwin, A., Stoppa Lyonnet, D., Buecher, B., Belotti, M., Tirapo, C., Mazoyer, S., Barjhoux, L., Lasset, C., Leroux, D., Faivre, L., Bronner, M., Prieur, F., Nogues, C., Rouleau, E., Pujol, P., Coupier, I., Frenay, M., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S. S., Yassin, Y., Miron, A., Goldgar, D., Singer, C. F., Tea, M. K., Pfeiler, G., Catharina Dressler, A., Hansen, T. V. O., Jonson, L., Ejlertsen, B., Barkardottir, R. B., Kirchhoff, T., Offit, K., Piedmonte, M., Rodriguez, G., Small, L., Boggess, J., Blank, S., Basil, J., Azodi, M., Toland, A. E., Montagna, M., Tognazzo, S., Agata, S., Imyanitov, E., Janavicius, R., Lazaro, C., Blanco, I., Pharoah, P. D. P., Sucheston, L., Karlan, B. Y., Walsh, C. S., Olah, E., Bozsik, A., Teo, S. H., Seldon, J. L., Beattie, M. S., Van Rensburg, E. J., Sluiter, M. D., Diez, O., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ruehl, I., Varon Mateeva, R., Kast, K., Deissler, H., Niederacher, D., Arnold, N., Gadzicki, D., Schonbuchner, I., Caldes, T., De La Hoya, M., Nevanlinna, H., Aittomaki, K., Dumont, M., Chiquette, J., Tischkowitz, M., Chen, X. Q., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Fredericksen, Z., Wang, X., Pankratz, V. S., Couch, F., Simard, J., Easton, D. F., Chenevix Trench, G., Karlsson, P., Nordling, M., Bergman, A., Einbeigi, Z., Stenmark Askmalm, M., Liedgren, S., Borg, A., Olsson, H., Kristoffersson, U., Jernstrom, H., Henriksson, K., Von Wachenfeldt, A., Liljegren, A., Barbany Bustinza, G., Rantala, J., Gronberg, H., Stattin, E. L., Emanuelsson, M., Brandell, R. R., Dahl, N., Hogervorst, F. B. L., Verhoef, S., Verheus, M., Veer, L. V., Van Leeuwen, F. E., Collee, M., Van Den Ouweland, A. M. W., Jager, A., Tilanus Linthorst, M. M. A., Seynaeve, C., Wijnen, J. T., Vreeswijk, M. P., Tollenaar, R. A., Ligtenberg, M. J., Hoogerbrugge, N., Ausems, M. G., Aalfs, C. M., Van Os, T. A., Gille, J. J. P., Waisfisz, Q., Gomez Garcia, E. B., Van Roozendaal, C. E., Blok, M. J., Caanen, B., Oosterwijk, J. C., Van Der Hout, A. H., Mourits, M. J., Vasen, H. F., Gregory, H., Morrison, P., Jeffers, L., Cole, T., Mckeown, C., Hoffman, J., Donaldson, A., Downing, S., Taylor, A., Murray, A., Rogers, M. T., Mccann, E., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Brewer, C., Kivuva, E., Searle, A., Goodman, S., Hill, K., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Jacobs, C., Langman, C., Whaite, A., Dorkins, H., Barwell, J., Chu, C., Miller, J., Ellis, I., Houghton, C., Taylor, J., Side, L., Male, A., Berlin, C., Eason, J., Collier, R., Claber, O., Jobson, I., Walker, L., Mcleod, D., Halliday, D., Durell, S., Stayner, B., Shanley, S., Rahman, N., Houlston, R., Bancroft, E., D'Mello, L., Page, E., Ardern Jones, A., Kohut, K., Wiggins, J., Castro, E., Mitra, A., Robertson, L., Quarrell, O., Bardsley, C., Hodgson, S., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Lucassen, A., Crawford, G., Mcbride, D., Smalley, S., University of Groningen, Clinical Genetics, Medical Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge [UK] ( CAM ), Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec, Queensland Institute of Medical Research, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale Tumouri (INT)-Fondazione Istituto FIRC di Oncologia Molecolare, Unit of Medical Genetics, Fondazione IRCCS Istituto Nazionale Tumouri (INT), Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Consortium for Genomics Technology (Cogentech), Department of Genetics, Biology and Biochemistry, University of Turin, Cancer Bioimmunotherapy Unit, IRCCS-Centro di Riferimento Oncologico, Department of Experimental Medicine, Università degli Studi di Roma 'La Sapienza' [Rome], Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Unit of Hereditary Cancers, Istituto Nazionale per la Ricerca sul Cancro, Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics, National Institutes of Health ( NIH ) -National Cancer Institute ( NIH ), Ontario Cancer Genetics Network, Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Samuel Lunenfeld Research Institute, Mount Sinai Hospital ( MSH ), Department of Clinical Genetics, Odense University Hospital, Rigshospitalet [Copenhagen]-University of Copenhagen ( KU ), The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Sackler Faculty of Medicine, Tel Aviv University [Tel Aviv], Department of Oncology, Lund University Hospital, Karolinska University Hospital [Stockholm], Departament of Genetics and Pathology, Uppsala University-Rudbeck Laboratory, Department of Radiation Sciences and Oncology, Umeå University, Depts of Medicine and Biostatistics and Epidemology, Abramson Family Cancer Research Institute-University of Pennsylvania School of Medicine, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine-Abramson Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University-International Hereditary Cancer Centre, Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, International Hereditary Cancer Center, Pomeranian Medical University, Human Genetics Group, Spanish National Cancer Research Centre, Biomedical Research Centre Network for Rare Diseases, CIBER de Enfermedades Raras (CIBERER), Department of Medical Oncology, Hospital Sant Pau, Medical Oncology Division, Hospital Clínico de Zaragoza, Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum ( DKFZ ), Department of Genetic Epidemiology, Leiden University Medical Center (LUMC), Genetic Medicine, Manchester Academic Health Sciences Centre-Central Manchester University Hospitals, Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Guy's and St. Thomas' NHS Foundation Trust, Yorkshire Regional Genetics Service, Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Wessex Clinical Genetics Service, Princess Anne Hospital, West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Newcastle Upon Tyne Hospitals NHS Trust, Addenbrookes Hospital, Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Service de Génétique Oncologique, INSTITUT CURIE, Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), génétique, Centre de Recherche en Cancérologie de Lyon ( CRCL ), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon ( HCL ), Laboratoire de Biométrie et Biologie Evolutive ( LBBE ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique ( Inria ) -Centre National de la Recherche Scientifique ( CNRS ), Equipe de prévention et épidémiologie génétique, Centre Léon Bérard [Lyon], Service d'onco-hématologie et génétique, CHU Grenoble, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne, Santé Publique, Hôpital René HUGUENIN (Saint-Cloud)-INSTITUT CURIE, Laboratoire d'Oncogénétique, CRLCC René Huguenin, Institut de recherche en cancérologie de Montpellier ( IRCM - U896 Inserm - UM1 ), CRLCC Val d'Aurelle - Paul Lamarque-Université de Montpellier ( UM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Montpellier 1 ( UM1 ), Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Arnaud de Villeneuve, Unité d'Oncogénétique, CRLCC Val d'Aurelle - Paul Lamarque, Consultation d'oncogénétique, CRLCC Antoine Lacassagne, Department of Cancer Biology, Dana-Farber Cancer Institute [Boston], Department of Surgery, Harvard Medical School [Boston] ( HMS ), Department of Dermatology, University of Utah School of Medicine [Salt Lake City], Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Division of Special Gynecology, Medical University of Vienna-Department of OB/GYN, Department of Clinical Biochemistry, Rigshospitalet [Copenhagen], Copenhagen University Hospital-Rigshospitalet [Copenhagen], Department of Pathology, Landspitali-University Hospital, Department of Environmental Medicine, New York University School of Medicine-NYU Cancer Institute, Clinical Genetics Service, Memorial Sloane Kettering Cancer Center [New York], Statistical and Data Center, Roswell Park Cancer Institute [Buffalo], Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, Department of Molecular and Regenerative Medicine, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Clinics, State Research Institute Innovative Medicine Center, Molecular Diagnostic Unit, IDIBELL-Catalan Institute of Oncology, Genetic Counselling Unit, Department of Molecular Genetics, National Institute of Oncology, Cancer Research Initiatives Foundation, Sime Darby Medical Centre-Malaysia and University Malaya Cancer Research Institute-University Malaya Medical Centre, Oncogenetics Laboratory, Vall d'Hebron Institute of Oncology (VHIO), Department of Gynaecology and Obstetrics, University Hospital of Cologne [Cologne]-Centre of Familial Breast and Ovarian Cancer-Centre for Integrated Oncology (CIO), Institute for Medical Informatics, Statistics and Epidemiology [Leipzig] ( IMISE ), University of Leipzig, Technical University of Munich ( TUM ), Ludwig-Maximillians University, Charite berlin, University Hospital Carl Gustav Carus, University Hospital Ulm, University Hospital Düsseldorf-Heinrich-Heine-Universität Düsseldorf [Düsseldorf], University Hospital of Schleswig-Holstein-Christian-Albrechts-Universität zu Kiel ( CAU ), Institute of Cell and Molecular Pathology, Hannover Medical School [Hannover] ( MHH ), University of Würzburg, Molecular Oncology Laboratory, Hospital Clínico San Carlos, Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Department of Genetics, Portuguese Oncology Institute, Department of Medical Genetics, Mayo Clinic, Department of Laboratory Medicine and Pathology, Cancer Research U.K. Genetic Epidemiology Unit, Strangeways Research Laboratory, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge [UK] (CAM), Università degli studi di Torino = University of Turin (UNITO), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Università degli Studi di Firenze = University of Florence (UniFI), National Institutes of Health [Bethesda] (NIH)-National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Mount Sinai Hospital [Toronto, Canada] (MSH), Department of Clinical Genetics [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, Tel Aviv University (TAU), Uppsala University, Abramson Family Cancer Research Institute-Perelman School of Medicine, University of Pennsylvania-University of Pennsylvania, Abramson Cancer Center-Perelman School of Medicine, International Hereditary Cancer Centre-Pomeranian Medical University [Szczecin] (PUM), Pomeranian Medical University [Szczecin] (PUM), Hospital de la Santa Creu i Sant Pau, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Universiteit Leiden-Universiteit Leiden, Birmingham Women's and Children's NHS Foundation Trust, Sheffield Children's NHS Foundation Trust, Newcastle Upon Tyne Hospitals NHS Foundation Trust, University of Kansas Medical Center [Kansas City, KS, USA], Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Institut Curie [Paris]-Hôpital René HUGUENIN (Saint-Cloud), Institut de recherche en cancérologie de Montpellier (IRCM - U896 Inserm - UM1), Université Montpellier 1 (UM1)-CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA)-UNICANCER-Université Côte d'Azur (UCA), Harvard Medical School [Boston] (HMS), Medizinische Universität Wien = Medical University of Vienna, Medizinische Universität Wien = Medical University of Vienna-Department of OB/GYN, Department of Clinical Biochemistry [Rigshospitalet], Copenhagen University Hospital, New York University School of Medicine, NYU System (NYU)-NYU System (NYU)-NYU Cancer Institute, Roswell Park Cancer Institute [Buffalo] (RPCI), Institute for Medical Informatics, Statistics and Epidemiology [Leipzig] (IMISE), Universität Leipzig, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Universitätsklinikum Ulm - University Hospital of Ulm, University Hospital Düsseldorf-Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], University Hospital of Schleswig-Holstein-Christian-Albrechts-Universität zu Kiel (CAU), Hannover Medical School [Hannover] (MHH), Julius-Maximilians-Universität Würzburg (JMU), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], University of Kansas Medical Center [Lawrence], Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital René HUGUENIN (Saint-Cloud)-Institut Curie [Paris], CRLCC Val d'Aurelle - Paul Lamarque-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 1 (UM1), Universität Leipzig [Leipzig], Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), University of Florence (UNIFI), Mount Sinai Hospital (MSH), Institut Curie, Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie de Lyon (CRCL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Curie-Hôpital René HUGUENIN (Saint-Cloud), Technical University of Munich (TUM), Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Human genetics, CCA - Oncogenesis, Human Genetics, Klinische Genetica, and RS: GROW - School for Oncology and Reproduction

Subjects
MESH : BRCA2 Protein, MESH : Aged, Estrogen receptor, Genome-wide association study, MESH : Breast Neoplasms, VARIANTS, MESH : Chromosomes, Human, Pair 1, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, MESH : Chromosomes, Human, Pair 6, MESH: BRCA2 Protein, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Genotype, CONFER SUSCEPTIBILITY, Chromosomes, Human, MESH : Female, skin and connective tissue diseases, Genetics (clinical), POPULATION, MESH: Heterozygote, MESH: Aged, 0303 health sciences, education.field_of_study, MESH: Middle Aged, BRCA1 Protein, MESH: Polymorphism, Single Nucleotide, MESH : Polymorphism, Single Nucleotide, Association Studies Articles, MESH: Genetic Predisposition to Disease, General Medicine, MESH : Adult, Middle Aged, MESH : Risk Factors, 3. Good health, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 6, Female, MESH : Mutation, Adult, MESH : Heterozygote, Heterozygote, MESH: Mutation, MESH: Chromosomes, Human, Pair 6, MESH: Chromosomes, Human, Pair 1, Population, [SDV.CAN]Life Sciences [q-bio]/Cancer, Single-nucleotide polymorphism, Breast Neoplasms, Biology, MESH: Chromosomes, Human, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Genetics, medicine, LOCUS, SNP, Humans, MESH : Middle Aged, MESH : BRCA1 Protein, Genetic Predisposition to Disease, Allele, GENOME-WIDE ASSOCIATION, education, Molecular Biology, Alleles, MESH: BRCA1 Protein, 030304 developmental biology, Aged, BRCA2 Protein, MESH: Humans, 2Q35, MESH: Alleles, MESH : Humans, MESH: Adult, medicine.disease, MESH : Chromosomes, Human, ESTROGEN-RECEPTOR, Mutation, Cancer research, MESH : Genetic Predisposition to Disease, GENETIC MODIFIERS, MESH : Alleles, MESH: Female, MESH: Breast Neoplasms
Abstract

Item does not contain fulltext Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.

Published
2011
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39. [A national multicentre study on nosocomial infections in PICU]

Author

I, Jordan García, A Bustinza, Arriourtúa, J A Concha, Torre, J Gil, Antón, J C de Carlos, Vicente, and C Téllez, González

Subjects
Male, Cross Infection, Adolescent, Spain, Child, Preschool, Humans, Infant, Female, Prospective Studies, Child, Intensive Care Units, Pediatric, Respiration, Artificial
Abstract

Nosocomial infection (NI) is a common complication in paediatric critical care units (PICU), with an associated mortality up to 11%.To describe NI epidemiology in the national PICU. To initiate an standard NI control measures to obtain paediatric incidence rates.Multicentre prospective study from 1 to 31 march 2007. Centre Disease Control diagnosis and methodological criteria were used. It was specially analyzed NI related to invasive devices: central venous catheter (CVC), mechanical ventilation (MV), urinary catheter (UC).There were recruited 300 patients from 6 PICU, with 17 NI episodes in 16 patients (5,3% from admitted). NI rates resulted in 13,8 infections/1000 patients-day. Middle age from infected patients was 2,31 years (± 3,43), 9 males. Risk factors were found in 7 cases. NI location was: catheter-related bloodstream infection in 7 patients (6,7/1000 days CVC), ventilator associated pneumonia in 4 (9,4/1000 MV days), urinary-tract infection associated with UC in 4 (5,5/1000 UC days), one case of primary bloodstream infection and one surgical site infection. Isolated microorganisms were: 9 gram negatives bacillus, 4 Candida, 2 plasmocoagulase negative staphylococcus, 1 Haemophilus and 1 Staphylococcus aureus. Seven isolations were resistant microorganisms. There weren't any died related to NI.NI epidemiology was similar to published data in our near countries. NI surveillance, with a standardized method of analysis is essential to the NI correct manage.

Published
2010

40. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author

Antoniou, Antonis C, Sinilnikova, Olga M, McGuffog, Lesley, Healey, Sue, Nevanlinna, Heli, Heikkinen, Tuomas, Simard, Jacques, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Kathleen Cuningham Foundation Consortium, for Research into Familial Breast Cancer, Neuhausen, Susan L, Ding, Yuan C, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Peissel, Bernard, Bonanni, Bernardo, Viel, Alessandra, Bernard, Loris, Radice, Paolo, Szabo, Csilla I, Foretova, Lenka, Zikan, Michal, Claes, Kathleen, Greene, Mark H, Mai, Phuong L, Rennert, Gad, Lejbkowicz, Flavio, Andrulis, Irene L, Ozcelik, Hilmi, Glendon, Gord, Group, OCGN, Gerdes, Anne-Marie, Thomassen, Mads, Sunde, Lone, Caligo, Maria A, Laitman, Yael, Kontorovich, Tair, Cohen, Shimrit, Kaufman, Bella, Dagan, Efrat, Baruch, Ruth Gershoni, Friedman, Eitan, Harbst, Katja, Barbany-Bustinza, Gisela, Rantala, Johanna, Ehrencrona, Hans, Karlsson, Per, Domchek, Susan M, Nathanson, Katherine L, Osorio, Ana, Blanco, Ignacio, Lasa, Adriana, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B L, Rookus, Matti A, Collee, J Margriet, Devilee, Peter, Ligtenberg, Marjolijn J, van der Luijt, Rob B, Aalfs, Cora M, Waisfisz, Quinten, Wijnen, Juul, van Roozendaal, Cornelis E P, Group, HEBON, Peock, Susan, Cook, Margaret, Frost, Debra, Oliver, Clare, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Cole, Trevor, Hodgson, Shirley, Group, EMBRACE, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Léoné, Mélanie, Bressac-de Paillerets, Brigitte, Remenieras, Audrey, Caron, Olivier, Lenoir, Gilbert M, Sevenet, Nicolas, Longy, Michel, Ferrer, Sandra Fert, Prieur, Fabienne, Group, GEMO, Goldgar, David, Miron, Alexander, John, Esther M, Buys, Saundra S, Daly, Mary B, Hopper, John L, Terry, Mary Beth, Yassin, Yosuf, Family Registry, Breast Cancer, Singer, Christian, Gschwantler-Kaulich, Daphne, Staudigl, Christine, Hansen, Thomas v O, Barkardottir, Rosa Bjork, Kirchhoff, Tomas, Pal, Prodipto, Kosarin, Kristi, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda E, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N, Allavena, Anna, Schmutzler, Rita K, Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Niederacher, Dieter, Deissler, Helmut, Fiebig, Britta, Suttner, Christian, Schönbuchner, Ines, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Pooley, Karen A, Easton, Douglas F, Chenevix-Trench, Georgia, Group, CIMBA, University of Groningen, Human genetics, CCA - Oncogenesis, and Human Genetics

Subjects
endocrine system diseases, SUSCEPTIBILITY, 0302 clinical medicine, skin and connective tissue diseases, POPULATION, Genetics (clinical), Aged, 80 and over, 0303 health sciences, education.field_of_study, BRCA1 Protein, Association Studies Articles, Microfilament Proteins, General Medicine, Middle Aged, 3. Good health, Chromosomes, Human, Pair 2, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female, Breast disease, Chromosomes, Human, Pair 8, Adult, EXPRESSION, Heterozygote, Population, Breast Neoplasms, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, OVARIAN-CANCER, Young Adult, 03 medical and health sciences, Breast cancer, Translational research [ONCOL 3], Genetics, medicine, Humans, Genetic Predisposition to Disease, ddc:610, GENOME-WIDE ASSOCIATION, education, Molecular Biology, Aged, 030304 developmental biology, BRCA2 Protein, Hereditary cancer and cancer-related syndromes [ONCOL 1], Genetic Variation, Cancer, Odds ratio, ALLELES, medicine.disease, GENE, Minor allele frequency, Genetics, Population, ESTROGEN-RECEPTOR, Mutation, Cancer research, Follow-Up Studies, Genome-Wide Association Study
Abstract

Contains fulltext : 81601.pdf (Publisher’s version ) (Closed access) Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.

Published
2009
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41. Nosocomial outbreak of Clostridium difficile-associated disease in a pediatric intensive care unit in Madrid

Author

Maria José Santiago, Amaya Bustinza, Jesús López-Herce, Maria José Solana, Mercedes Marin, and Belén Padilla

Subjects
Microbiology (medical), Diarrhea, Male, medicine.medical_specialty, Epidemiology, Disease, Pediatrics, Disease Outbreaks, medicine, Infection control, Humans, Intensive care medicine, Child, Enterocolitis, Pseudomembranous, Pediatric intensive care unit, Microbial toxins, Nosocomial outbreak, Cross Infection, business.industry, Clostridioides difficile, Outbreak, Infant, Clostridium difficile, Metronidazole, Intensive Care Units, Infectious Diseases, Spain, Child, Preschool, Female, business, medicine.drug
Published
2008

42. Endogenous nitric oxide synthase inhibitors, arterial hemodynamics, and subclinical vascular disease: the PREVENCION Study

Author

Fernando F. Corrales-Medina, Humberto Zea-Diaz, Josefina Medina-Lezama, J. Alexander Bralley, Carolina Cuba-Bustinza, Robert M. David, Julio Chirinos-Pacheco, Julio A. Chirinos, and Edgar Muñoz-Atahualpa

Subjects
Carotid Artery Diseases, Male, medicine.medical_specialty, Nitric Oxide Synthase Type III, Population, Hemodynamics, Blood Pressure, Arginine, Predictive Value of Tests, Risk Factors, Internal medicine, Internal Medicine, medicine, Humans, education, Pulse wave velocity, Aged, Aged, 80 and over, education.field_of_study, omega-N-Methylarginine, business.industry, Middle Aged, medicine.disease, Prognosis, Pulse pressure, Compliance (physiology), Blood pressure, medicine.anatomical_structure, Endocrinology, Pulsatile Flow, Hypertension, cardiovascular system, Vascular resistance, Arterial stiffness, Regression Analysis, Female, business, Biomarkers, Blood Flow Velocity
Abstract

Endogenous NO synthase inhibitors (end-NOSIs) have been associated with cardiovascular risk factors and atherosclerosis. In addition, end-NOSIs may directly cause hypertension through hemodynamic effects. We aimed to examine the association between end-NOSI asymmetrical dimethylarginine (ADMA) and N -guanidino-monomethyl-arginine (NMMA), subclinical atherosclerosis, and arterial hemodynamics. We studied 922 adults participating in a population-based study (PREVENCION Study) and examined the correlation between end-NOSI/ l -arginine and arterial hemodynamics, carotid-femoral pulse wave velocity, and carotid intima-media thickness using linear regression. ADMA, NMMA, and l -arginine were found to be differentially associated with various classic cardiovascular risk factors. ADMA and NMMA (but not l -arginine) were significant predictors of carotid intima-media thickness, even after adjustment for cardiovascular risk factors, C-reactive protein, and renal function. In contrast, ADMA and NMMA did not predict carotid-femoral pulse wave velocity, blood pressure, or hemodynamic abnormalities. Higher l -arginine independently predicted systolic hypertension, higher central pulse pressure, incident wave amplitude, central augmented pressure, and lower total arterial compliance but not systemic vascular resistance or cardiac output. We conclude that ADMA and NMMA are differentially associated with cardiovascular risk factors, but both end-NOSIs are independent predictors of carotid atherosclerosis. In contrast, they are not associated with large artery stiffness, hypertension, or hemodynamic abnormalities. Our findings are consistent with a role for asymmetrical arginine methylation in atherosclerosis but not in large artery stiffening, hypertension, or long-term hemodynamic regulation. l -Arginine is independently associated with abnormal pulsatile (but not resistive) arterial hemodynamic indices, which may reflect abnormal l -arginine transport, leading to decreased intracellular bioavailability for NO synthesis.

Published
2008

43. Antifungal stewardship in a tertiary-care institution: a bedside intervention

Author

Valerio, M, Muñoz, P, Rodríguez, C G, Caliz, B, Padilla, B, Fernández-Cruz, A, Sánchez-Somolinos, M, Gijón, P, Peral, J, Gayoso, J, Frias, I, Salcedo, M, Sanjurjo, M, Bouza, E, Bouza, E., Bustinza, A., Cáliz, B., Escribano, P., Fernández-Cruz, A., Fernández-Quero, J., Frias, I., Gayoso, J., Gijón, P., Guinea, J., Kestler, M., de Lorenzo, A., Martínez, M. C., Menárguez, M. C., Muñoz, P., Navarro, M., Padilla, B., Peláez, T., Peral, J., Rincón, D., Rodríguez, C. G., Salcedo, M., Sánchez, C., Sánchez-Somolinos, M., Sanjurjo, M., Serrano, D., Valerio, M., Vena, Antonio, Verde, E., and Zamora, and E.

Subjects
Male, Posaconazole, Pediatrics, Antifungals, candidaemia, cost savings, invasive aspergillosis, stewardship, Adolescent, Adult, Aged, Aged, 80 and over, Antifungal Agents, Child, Child, Preschool, Costs and Cost Analysis, Drug Prescriptions, Drug Utilization, Female, Humans, Infant, Infant, Newborn, Middle Aged, Mycoses, Survival Analysis, Tertiary Care Centers, Treatment Outcome, Young Adult, Organizational Policy, Antifungal drug, Tertiary care, 80 and over, Incidence (epidemiology), General Medicine, Infectious Diseases, medicine.drug, Antifungal, Microbiology (medical), medicine.medical_specialty, medicine.drug_class, Intensive care, Intervention (counseling), medicine, Preschool, Voriconazole, business.industry, Newborn, Emergency medicine, business
Abstract

Antifungal stewardship (AFS) programmes are needed in tertiary-care hospitals. Our aim is to describe a bedside non-restrictive AFS programme, and to evaluate its economic impact. During the first year of the AFS a bundle of non-interventional measures were implemented. During the second year an infectious diseases specialist visited 453 patients receiving candins, liposomal amphotericin B, voriconazole or posaconazole. Monthly costs were studied with an interrupted time series (ITS) analysis. The main prescribing departments were haematology (35%), medical departments (23%), and intensive care units (20%). Reasons to start antifungal therapy were: targeted therapy (36%), prophylaxis (32%), empirical therapy (20%) and pre-emptive therapy (12%). At the initial visit, diagnostic advice was provided in 40% of cases. The most common therapeutic recommendations were to de-escalate the antifungal drug (17%) or to suspend it (7%). Annual total antifungal expenditure was reduced from US$3.8 million to US$2.9 million over the first 2 years, generating net savings of US$407,663 and US$824,458 per year after considering the cost of additional staff required. The ITS analyses showed a significant economic impact after the first 12 months of the intervention (p 0.042 at month 13), which was enhanced in the following 24 months (p 0.006 at month 35). The number of defined daily doses decreased from 66.4 to 54.8 per 1000 patient-days. Incidence of candidaemia was reduced from 1.49 to 1.14 (p 0.08) and related mortality was reduced from 28% to 16% (p 0.1). A collaborative and non-compulsory AFS program based on bedside intervention is an efficacious and cost-effective approach that optimizes the use of AF drugs.

Published
2015
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44. [Complete heart blockade, external ophthalmoplegia, and pigmentary retinitis]

Author

V, Rodríguez Blanco, I, Möller Bustinza, F, González Camino, P, Ablanedo Ablanedo, and G, Casares García

Subjects
Adult, Diagnosis, Differential, Heart Block, Ophthalmoplegia, Biopsy, Humans, Electroencephalography, Female, Kearns-Sayre Syndrome, Retinitis Pigmentosa, Pectoralis Muscles
Published
2004

45. [Lung embolism of cardiac origin]

Author

V, Rodríguez Blanco, I, Möller Bustinza, L, Alvarez Bartolomé, F, Catalán Adivinación, and G, Casares García

Subjects
Heart Neoplasms, Treatment Outcome, Humans, Female, Cardiac Surgical Procedures, Middle Aged, Pulmonary Embolism, Radionuclide Imaging, Myxoma, Echocardiography, Transesophageal
Published
2004

46. [Treatment of septic shock with continuous plasmafiltration and hemodiafiltration]

Author

J, López-Herce Cid, A, Bustinza Arriortúa, A, Alcaraz Romero, K B, Brandstrup Azuero, C, Fernández García-Abril, and M, Roncero Rubio

Subjects
Plasma, Adolescent, Humans, Female, Hemodiafiltration, Shock, Septic
Abstract

Despite recent therapeutic advances, mortality due to septic shock remains high. The most important causes of mortality are refractory shock, uncontrollable alterations of coagulation, and multiorgan failure. Some authors have proposed the early use of plasmafiltration and high flow hemodiafiltration for refractory septic shock. Most authors initiate treatment with a short session of plasmafiltration followed by continuous hemodiafiltration. A 13-year-old girl presented refractory meningococcal septic shock, disseminated intravascular coagulation, and acute renal failure unresponsive to volume expansion and high doses of adrenalin and noradrenaline. She received simultaneous treatment with plasmafiltration and continuous venovenous hemodiafiltration for 30 hours. Two pumps of extrarenal purification placed in parallel through the same double line catheter were used. Fast hemodynamic stabilization and control of the coagulopathy were achieved. The patient survived with progressive recovery of renal function but required amputation of the inferior left limb. Continuous plasmafiltration and venovenous hemodiafiltration can be used simultaneously for the treatment of older children with septic shock, severe coagulopathy, and hypervolemia.

Published
2003

47. Discordant identification of pediatric severe sepsis by research and clinical definitions in the SPROUT international point prevalence study

Author

Weiss, Scott L, Fitzgerald, Julie C., Maffei, Frank A., Kane, Jason M., Rodriguez Nunez, Antonio, Hsing, Deyin D., Franzon, Deborah, Kee, Sze Ying, Bush, Jenny L., Roy, Jason A., Thomas, Neal J., Nadkarni, Vinay M., Fontela, P., Tucci, M., Dumistrascu, M., Skippen, P., Krahn, G., Bezares, E., Puig, G., Puig Ramos, A., Garcia, R., Villar, M., Bigham, M., Polanski, T., Latifi, S., Giebner, D., Anthony, H., Hume, J., Galster, A., Linnerud, L., Sanders, R., Hefley, G., Madden, K., Thompson, A., Shein, S., Gertz, S., Han, Y., Williams, T., Hughes Schalk, A., Chandler, H., Orioles, A., Zielinski, E., Doucette, A., Zebuhr, C., Wilson, T., Dimitriades, C., Ascani, J., Layburn, S., Valley, S., Markowitz, B., Terry, J., Morzov, R., Mcinnes, A., Mcarthur, J., Woods, K., Murkowski, K., Spaeder, M., Sharron, M., Wheeler, D., Beckman, E., Frank, E., Howard, K., Carroll, C., Nett, S., Jarvis, D., Patel, V., Higgerson, R., Christie, L., Typpo, K., Deschenes, J., Kirby, A., Uhl, T., Rehder, K., Cheifetz, I., Wrenn, S., Kypuros, K., Ackerman, K., Maffei, F., Bloomquist, G., Rizkalla, N., Kimura, D., Shah, S., Tigges, C., Su, F., Barlow, C., Michelson, K., Wolfe, K., Goodman, D., Campbel, L., Sorce, L., Bysani, K., Monjure, T., Evans, M., Totapally, B., Chegondi, M., Rodriguez, C., Frazier, J., Steele, L., Viteri, S., Costarino, A., Thomas, N., Spear, D., Hirshberg, E., Lilley, J., Rowan, C., Rider, C., Kane, J., Zimmerman, J., Greeley, C., Lin, J., Jacobs, R., Parker, M., Culver, K., Loftis, L., Jaimon, N., Goldsworthy, M., Fitzgerald, J., Weiss, S., Nadkarni, V., Bush, J., Diliberto, M., Alen, C., Gessouroun, M., Sapru, A., Lang, T., Alkhouli, M., Kamath, S., Friel, D., Daufeldt, J., Hsing, D., Carlo, C., Pon, S., Scimeme, J., Shaheen, A., Hassinger, A., Qiao, H., Giuliano, J., Tala, J., Vinciguerra, D., Fernandez, A., Carrero, R., Hoyos, P., Jaramillo, J., Posada, A., Izquiierdo, L., Piñeres Olave, B. E., Donado, J., Dalmazzo, R., Rendich, S., Palma, L., Lapadula, M., Acuna, C., Cruces, P., Clement De Clety, S., Dujardin, M., Berghe, C., Renard, S., Zurek, J., Steinherr, H., Mougkou, K., Critselis, E., Di Nardo, M., Picardo, S., Tortora, F., Rossetti, E., Fragasso, T., Cogo, Paola, Netto, R., Dagys, A., Gurskis, V., Kevalas, R., Neeleman, C., Lemson, J., Luijten, C., Wojciech, K., Pagowska Klimek, I., Szczepanska, M., Karpe, J., Nunes, P., Almeida, H., Rios, J., Vieira, M., Revilla, P., Urbano, J., Lopez Herce, J., Bustinza, A., Cuesta, A., Hofheinz, S., Rodriguez Nunez, A., Sanagustin, S., Gonzalez, E., Riaza, M., Piaya, R., Soler, P., Esteban, E., Laraudogoitia, J., Monge, C., Herrera, V., Granados, J., Gonzalez, C., Koroglu, T., Ozcelik, E., Baines, P., Plunkett, A., Davis, P., George, S., Tibby, S., Harris, J., Agbeko, R., Lampitt, R., Bierley, J., Peters, M., Jones, A., Dominguez, T., Thiruchelvam, T., Deep, A., Ridley, L., Bowen, W., Levin, R., Macleod, I., Gray, M., Hemat, N., Alexander, J., Ali, S., Pappachan, J., Mccorkell, J., Schibler, A., Fortune, P., Macdonald, M., Hudnott, P., Erickson, S., Millar, J., Delzoppo, C., Williams, G., Morritt, M., Mceneiry, J., Long, D., Dorofaeff, T., Coulthard, M., Watts, N., Suyun, Q., Singhi, S., Nallasamy, K., Lodha, R., Shime, N., Tabata, Y., Saito, O., Ikeyama, T., Kawasaki, T., Lum, L., Abidin, A., Kee, S., Tang, S., Jalil, R., Beca, J., Sherring, C., Bushell, T., Guan, Y., Yao, L., Lin, K., Ong, J., Salloo, A., Doedens, L., Mathivha, L., Reubenson, G., Moaisi, S., Pentz, A., and Green, R.

Subjects
Male, medicine.medical_specialty, Biomedical Research, Adolescent, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Practice Patterns, macromolecular substances, Critical Care and Intensive Care Medicine, Sepsis, Intensive care, Epidemiology, Severity of illness, Clinical endpoint, Prevalence, Medicine, Humans, Practice Patterns, Physicians', Preschool, Intensive care medicine, Child, Pediatric intensive care unit, Observer Variation, Physicians', business.industry, Research, Organ dysfunction, Infant, Newborn, Infant, Child, Preschool, Female, Treatment Outcome, Newborn, medicine.disease, 3. Good health, Clinical trial, medicine.symptom, business
Abstract

Introduction Consensus criteria for pediatric severe sepsis have standardized enrollment for research studies. However, the extent to which critically ill children identified by consensus criteria reflect physician diagnosis of severe sepsis, which underlies external validity for pediatric sepsis research, is not known. We sought to determine the agreement between physician diagnosis and consensus criteria to identify pediatric patients with severe sepsis across a network of international pediatric intensive care units (PICUs). Methods We conducted a point prevalence study involving 128 PICUs in 26 countries across 6 continents. Over the course of 5 study days, 6925 PICU patients Results Of the 706 patients, 301 (42.6 %) met both definitions. The inter-rater agreement (κ ± SE) between physician diagnosis and consensus criteria was 0.57 ± 0.02. Of the 438 patients with a physician’s diagnosis of severe sepsis, only 69 % (301 of 438) would have been eligible to participate in a clinical trial of pediatric severe sepsis that enrolled patients based on consensus criteria. Patients with physician-diagnosed severe sepsis who did not meet consensus criteria were younger and had lower severity of illness and lower PICU mortality than those meeting consensus criteria or both definitions. After controlling for age, severity of illness, number of comorbid conditions, and treatment in developed versus resource-limited regions, patients identified with severe sepsis by physician diagnosis alone or by consensus criteria alone did not have PICU mortality significantly different from that of patients identified by both physician diagnosis and consensus criteria. Conclusions Physician diagnosis of pediatric severe sepsis achieved only moderate agreement with consensus criteria, with physicians diagnosing severe sepsis more broadly. Consequently, the results of a research study based on consensus criteria may have limited generalizability to nearly one-third of PICU patients diagnosed with severe sepsis.

Published
2015
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48. [Burnout among Spanish pediatricians specialized in intensive care]

Author

A, Bustinza Arriortua, J, López-Herce Cid, A, Carrillo Alvarez, M D, Vigil Escribano, N, de Lucas García, and E, Panadero Carlavilla

Subjects
Adult, Male, Critical Care, Spain, Prevalence, Humans, Female, Middle Aged, Burnout, Professional, Pediatrics
Abstract

The burnout syndrome is characterized by emotional exhaustion, depersonalization and decrease or loss of the feeling of personal accomplishment. It is frequent in the helping professions where an intense involvement with people needing assistance occurs. In its origin, the work policy factors seem to be important.68 pediatric intensive care physicians of the Intensive Care Section of the Spanish Pediatric Association participate in the study. A general questionnaire and a Spanish version of the Maslach Burnout Inventory was used. The statistical analysis includes: a descriptive analysis, the Student t-test, and the analysis of the variance.Burnout scores were in the average range (41,9 +/- 7,5), with a more important grade in the decrease of personal accomplishment dimension (18,9 +/- 3,5). The 55,9% of the responders attributed to the conflict with the managing policy, their work unsatisfaction and the 58,8% planned to leave the job in the future.The importance of burnout and its three dimensions in the health professions and in the hospital setting is stated. It is enhanced that even though the burnout scores were in the average range more than half of the population studied were considering to leave their work in the future.

Published
2000

49. [Spontaneous echocardiographic contrast in the left ventricle: apropos of 2 cases]

Author

R, Barriales Villa, F, Catalán Adivinación, V, Manuel Rodríguez Blanco, I, Möller Bustinza, V, Barriales Alvarez, and G, Casares García

Subjects
Cardiomyopathy, Dilated, Male, Echocardiography, Coronary Circulation, Heart Valve Prosthesis, Heart Ventricles, Humans, Mitral Valve, Female, Aged
Abstract

Two cases of spontaneous echocardiographic contrast in the left ventricle, using transthoracic echocardiography, are presented. One is due to a low-flow state in a patient with a dilated myocardiopathy. In the other we observed the echogenicity of a turbulent intracardiac blood flow across a mitral prosthesis. We considered the different theories that tried to explain the multiple origin of this "smoke".

Published
1998

50. [Primary cardiac tumors: a review of 29 cases]

Author

V M, Rodríguez Blanco, V, Barriales Alvarez, V, Puebla Rojo, I, Möller Bustinza, E, Castellanos Martinez, and A, Cortina Llosa

Subjects
Adult, Aged, 80 and over, Heart Neoplasms, Male, Heart Ventricles, Humans, Female, Heart Atria, Middle Aged, Prognosis, Aged, Retrospective Studies
Abstract

A series of 29 cardiac tumors were operated in Asturias Central Hospital between 1974 and 1994. There were 23 benign and 6 malignant tumors. Among the benign neoplasms, 22 were myxomas and 1 lipoma; there were 6 remalignant tumors, one pulmonary artery sarcoma, two rhabdomyosarcoma, one mesothelioma and two lymphomas. We review the clinical findings of these patients. Long-term results were excellent in patients with benign lesions, and only one recurrence was found. In patients with malignant tumors, surgical procedures were only palliative and aimed at prolonging life; hence, prognosis remained unchanged.

Published
1998

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