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221 results on '"Factors de risc en les malalties"'

1. Risk scores’ performance and their impact on operative decision-making in left-sided endocarditis: a cohort study

Author

Fernández Cisneros, A., Hernández-Meneses, Marta, Llopis Pérez, Jaime, Sandoval, Elena, Pereda, D., Alcocer, J., Barriuso, C., Castellá, M., Ambrosioni, J., Pericàs, Juan M., Vidal, B., Falces, C., Ibáñez,C., Perdomo,J., Rovira, I., García de la María, C., Moreno, A., Almela, M., Perisinotti, A., Dahl, A., Castro, P., Miró Meda, José M., Quintana, Eduard, and Equip d'Endocarditis de l'Hospital Clínic de Barcelona

Subjects
Microbiology (medical), Infectious Diseases, Endocarditis, Factors de risc en les malalties, Risk factors in diseases, Cirurgia cardiovascular, Cardiovascular surgery, General Medicine
Abstract

The accuracy of contemporary risk scores in predicting perioperative mortality in infective endocarditis (IE) remains controversial. The aim is to evaluate the performance of existent mortality risk scores for cardiovascular surgery in IE and the impact on operability at high-risk thresholds. A single-center retrospective review of adult patients diagnosed with acute left-sided IE undergoing surgery from May 2014 to August 2019 (n = 142) was done. Individualized risk calculation was obtained according to the available mortality risk scores: EuroScore I and II, PALSUSE, Risk-E, Costa, De Feo-Cotrufo, AEPEI, STS-risk, STS-IE, APORTEI, and ICE-PCS scores. A cross-validation analysis was performed on the score with the best area under the curve (AUC). The 30-day survival was 96.5% (95%CI 91–98%). The score with worse area under the curve (AUC = 0.6) was the STS-IE score, while the higher was for the RISK-E score (AUC = 0.89). The AUC of the majority of risk scores suggested acceptable performance; however, statistically significant differences in expected versus observed mortalities were common. The cross-validation analysis showed that a large number of survivors (> 75%) would not have been operated if arbitrary high-risk threshold estimates had been used to deny surgery. The observed mortality in our cohort is significantly lower than is predicted by contemporary risk scores. Despite the reasonable numeric performance of the analyzed scores, their utility in judging the operability of a given patient remains questionable, as demonstrated in the cross-validation analysis. Future guidelines may advise that denial of surgery should only follow a highly experienced Endocarditis Team evaluation.

Published
2022

2. Factores de complejidad de cuidados asociados a la reconsulta en un servicio de urgencias

Author

Urbina, Andrea, Juvé Udina, Eulàlia, Romero García, Marta, Delgado-Hito, Pilar, González Samartino, Maribel, and Adamuz Tomás, Jordi

Subjects
Hospital care, Factors de risc en les malalties, Risk factors in diseases, Hospital emergency services, Cura dels malalts, Assistència hospitalària, Care of the sick, Serveis d'urgències hospitalàries
Abstract

Objetivo. Analizar la prevalencia de factores de complejidad de cuidados en los pacientes atendidos en el servicio de urgencias y determinar su relación con las reconsultas durante los 30 días posteriores a la vista inicial. Método. Estudio observacional transversal correlacional. Se incluyeron de forma consecutiva todos aquellos pacientes adultos que consultaron al servicio de urgencias de un hospital de tercer nivel durante un periodo de 6 meses. Las variables principales del estudio fueron la reconsulta a los 30 días y 26 factores individuales de complejidad de cuidados categorizados en 5 fuentes (psicoemocional, mental-cognitiva, sociocultural, evolutiva, comorbilidades-complicaciones). Los datos fueron recogidos de la historia clínica electrónica. Resultados. Se incluyeron un total de 15.556 episodios de pacientes. El 82,4% (12.811) presentó algún factor de complejidad de cuidados y el 11,9% (1.088) de los pacientes dados de alta reconsultaron durante los 30 días posteriores. La presencia de mayor número de factores de complejidad de cuidados se asoció a la reconsulta a los 30 días (OR: 1,26; IC 95%: 1,11-1,43; p < 0,05), y los siguientes factores se asociaron con reconsulta: incontinencia, inestabilidad hemodinámica, riesgo de hemorragia, extremo de edad, ansiedad y temor, deterioro de funciones cognitivas y analfabetismo (p < 0,05). Conclusiones. La prevalencia de factores de complejidad de cuidados en pacientes que consultan en el servicio de urgencias es elevada. Los pacientes que reconsultaron a los 30 días presentaron mayor número de factores de complejidad, por lo que su identificación precoz podría ayudar a estratificar los pacientes y diseñar estrategias preventivas para disminuir la incidencia de reconsultas.

Published
2023

3. Atherosclerosis, Cardiovascular Disease, and COVID‐19: A Narrative Review

Author

Carles Vilaplana-Carnerero, Maria Giner-Soriano, Àngela Dominguez, Rosa Morros, Carles Pericas, Dolores Álamo-Junquera, Diana Toledo, Carmen Gallego, Ana Redondo, and María Grau

Subjects
Cardiovascular diseases, Pronòstic mèdic, Malalties cardiovasculars, Factors de risc en les malalties, Risk factors in diseases, Medicine (miscellaneous), COVID-19, Atherosclerosis, Prognosis, General Biochemistry, Genetics and Molecular Biology, Aterosclerosi
Abstract

Atherosclerosis is a chronic inflammatory and degenerative process that mainly occurs in large- and medium-sized arteries and is morphologically characterized by asymmetric focal thickenings of the innermost layer of the artery, the intima. This process is the basis of cardiovascular diseases (CVDs), the most common cause of death worldwide. Some studies suggest a bidirectional link between atherosclerosis and the consequent CVD with COVID-19. The aims of this narrative review are (1) to provide an overview of the most recent studies that point out a bidirectional relation between COVID-19 and atherosclerosis and (2) to summarize the impact of cardiovascular drugs on COVID-19 outcomes. A growing body of evidence shows that COVID-19 prognosis in individuals with CVD is worse compared with those without. Moreover, various studies have reported the emergence of newly diagnosed patients with CVD after COVID-19. The most common treatments for CVD may influence COVID-19 outcomes. Thus, their implication in the infection process is briefly discussed in this review. A better understanding of the link among atherosclerosis, CVD, and COVID-19 could proactively identify risk factors and, as a result, develop strategies to improve the prognosis for these patients.

Published
2023

4. Exploring the impact of COVID-19 on newborn neurodevelopment: a pilot study

Author

Rosa Ayesa-Arriola, Águeda Castro Quintas, Víctor Ortiz-García de la Foz, Margarita Miguel Corredera, Nerea San Martín González, Nancy Murillo-García, Karl Neergaard, Lourdes Fañanás Saura, and Isabel de las Cuevas Terán

Subjects
Multidisciplinary, Factors de risc en les malalties, Risk factors in diseases, Neonatology, Neonatologia
Abstract

The COVID-19 pandemic can seize the opportunity to explore the hypothesis of prenatal exposure to viral infections increases the risk for neurodevelopmental disorders. Advancing our knowledge in this regard would improve primary prevention of mental disorders in children. For this pilot study, six-week-old infants born to mothers exposed (n = 21) or unexposed (n = 21) to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) were assessed in Santander-Cantabria (Spain) using the Neonatal Behavioral Assessment Scale (NBAS). Groups comparisons were performed to explore the effects that infection and timing of exposure (in terms of the three trimesters of pregnancy). The infants’ competencies and performances on the NBAS were generally similar in the exposed and unexposed to SARS-CoV-2 groups. The most significant difference found was a less optimally response to cuddliness (item on the state regulation domain) particularly in infants born to mothers exposed in the third trimester of pregnancy, and in pull-to-sit (item on the motor system domain). Although our interpretations must be careful, these preliminary results highlight the possible association between prenatal SARS-CoV-2 exposure and poorer development in motor skills and infant interactive behavior. Further longitudinal studies are needed to explore these relationships and disentangle the biological mechanisms implicated.

Published
2023

5. Cognitive impairment with Type 2 Diabetes Mellitus among older adults in Chile: prevalence, risk factors and cognitive characteristics

Author

Bozanic Leal, Agnieszka, Toro, Pablo, Bello-Lepe, Sebastián, Hurtado-Oliva, Javier, Beyle, Christian, Valdés, Catalina, and Formiga Pérez, Francesc

Subjects
Diabetis, Factors de risc en les malalties, Risk factors in diseases, Diabetes, Senile dementia, Demència senil
Abstract

Introduction: The aim of this study is to determine prevalence and risk factors of Cognitive Impairment (CI) and its association with Type 2 Diabetes Mellitus (T2DM) in subjects aged 65 years and above. Additionally, we attempt to provide a cognitive profile for T2DM group. Methodology: A cross-sectional analytical study to assess CI was carried out. We evaluated a sample of community-dwelling residents from Chile. All participants underwent a general interview, lifestyle questionnaires and a comprehensive neuropsychological battery. Regression analyses were performed to evaluate risk of CI with T2DM and influencing factors. Results between groups in the different domains of the neuropsychological assessment were compared by Student's t-tests and MANOVA. Results: Among all 358 subjects, overall T2DM prevalence were 17.3%. The prevalence of CI was higher in T2DM group compared to the healthy participants (30.7%, p < 0.001). The risk of CI was 2.8 times higher in older people with T2DM compared to older people without the diagnosis. Multiple regression analysis, adjusted for age and gender, demonstrated that age, education, presence of dyslipidemia, and T2DM duration were the predictor variables significantly associated with CI. T2DM group performed worse on global cognitive performance, attention, language, verbal memory, visual memory, visual constructional ability, and executive function. After adjusting for significant covariates from multiple regression analysis, a relationship between "cognition" and T2DM is still observed. Amnesic multi-domain impairment was the specific cognitive identified pattern for T2DM group. Conclusion: The present study confirms the high prevalence of CI with T2DM among Chilean older adults in a community-based population. T2DM is significantly associated with a higher risk of CI, and age, education, presence of dyslipidemia, and duration of T2DM are risk factors. T2DM patients with CI are impaired in multiple cognitive domains, even after adjusting covariables, resulting in an amnesic multi-domain cognitive profile.

Published
2023

6. Denervación renal en el tratamiento de la hipertensión arterial. Posicionamiento conjunto de la SEH-LELHA y la ACI-SEC

Author

Oriol Rodríguez-Leor, Fernando Jaén-Águila, Julián Segura, Iván J. Núñez-Gil, Arturo García-Touchard, Esther Rubio, Maribel Troya, Juan Diego-Mediavilla, Ángel Cequier, Raúl Moreno, Nieves Martell, Paola Beltrán, Eduardo Molina, and José Antonio García-Donaire

Subjects
Hipertensión arterial, Nefrologia, Presión arterial, Cardiovascular diseases, Factors de risc en les malalties, Malalties cardiovasculars, Risk factors in diseases, Nephrology, Hypertension, Denervación renal, Hipertensió, Internal medicine, RC31-1245
Abstract

RESUMEN La hipertensión arterial es el factor de riesgo cardiovascular más prevalente. A pesar del tratamiento farmacológico, un alto porcentaje de pacientes no consiguen un adecuado control. La denervación renal es una intervención mínimamente invasiva para el tratamiento de la hipertensión que implica la interrupción de los nervios simpáticos renales mediante un abordaje con catéter. Los estudios iniciales mostraron resultados prometedores, pero los controvertidos resultados del ensayo SYMPLICITY HTN-3 llevaron al abandono de la técnica. En los últimos 3 años han aparecido los resultados de nuevos ensayos clínicos, con nuevos dispositivos y en diferentes poblaciones, que demuestran definitivamente la eficacia de la denervación renal. En este documento de posicionamiento conjunto de la Sociedad Española de Hipertensión-Liga Española para la Lucha contra la Hipertensión Arterial (SEH-LELHA) y la Asociación de Cardiología Intervencionista de la Sociedad Española de Cardiología (ACI-SEC) se revisa la evidencia disponible sobre la eficacia y la seguridad de la denervación renal en el tratamiento de la hipertensión. A partir de los resultados de los ensayos clínicos, se generan recomendaciones sobre qué pacientes y en qué condiciones podrían ser candidatos a una denervación renal.

Published
2023

7. Sleep and breast and prostate cancer risk in the MCC‑Spain study

Author

Michelle C. Turner, Esther Gracia-Lavedan, Kyriaki Papantoniou, Nuria Aragonés, Gemma Castaño-Vinyals, Trinidad Dierssen-Sotos, Pilar Amiano, Eva Ardanaz, Alba Marcos-Delgado, Ana Molina-Barceló, Juan Alguacil, Yolanda Benavente, Thalia Belmonte, José J. Jiménez-Moleón, Rafael Marcos-Gragera, Beatriz Pérez, Inés Gómez-Acebo, Marina Pollán, Manolis Kogevinas, Instituto de Salud Carlos III, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Fundación Marqués de Valdecilla, Junta de Castilla y León (España), Regional Government of Andalusia (España), Generalitat Valenciana (España), Fundación La Caixa, Basque Government (España), Unión Europea. Comisión Europea, Asociación Española Contra el Cáncer, Government of Catalonia (España), Fundación Caja de Ahorros de Asturias, University of Oviedo (España), Ministerio de Ciencia, Innovación y Universidades (España), Unión Europea. Fondo Social Europeo (ESF/FSE), Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España), and Universidad de Cantabria

Subjects
Male, Adult, Prostate cancer, Multidisciplinary, Càncer de pròstata, Factors de risc en les malalties, Risk factors in diseases, Epidemiology, Prostatic Neoplasms, Breast Neoplasms, Son, Càncer de mama, Breast cancer, Risk factors, Spain, Risk Factors, Case-Control Studies, Humans, Sleep, Cancer
Abstract

The study was partially funded by the ‘Accion Transversal del Cancer’, approved by the Spanish Ministry Council on 11 October 2007, by the Instituto de Salud Carlos III-FEDER (PI08/1770, PI08/1359, PI09/00773, PI09/01286, PI09/01903, PI09/02078, PI09/01662, PI11/01403, PI11/01889, PI11/02213; PI12/00265, PI12/01270, PI12/00715, PI12/00150, PI14/01219, PI14/0613, PI15/00069, PI15/00914, PI15/01032, PI17CIII/00034, CIBERESP CB06/02/0073), the Fundación Marqués de Valdecilla (API 10/09), the Junta de Castilla y León (LE22A10- 2), the Consejería de Salud of the Junta de Andalucía (PI-0571-2009, PI-0306-2011, salud201200057018tra), the Conselleria de Sanitat of the Generalitat Valenciana (AP_061/10), the Recercaixa (2010ACUP 00310), the Regional Government of the Basque Country, the European Commission grants FOOD-CT-2006-036224-HIWATE, the Spanish Association Against Cancer (AECC) Scientific Foundation, the Catalan Government DURSI grant 2014SGR647, 2017SGR723, 2017SGR1085 and 2014SGR850, the Fundación Caja de Ahorros de Asturias and by the University of Oviedo. MCT is funded by a Ramón y Cajal fellowship (RYC-2017-01892) from the Spanish Ministry of Science, Innovation and Universities and co-funded by the European Social Fund. ISGlobal acknowledges support from the Spanish Ministry of Science and Innovation through the “Centro de Excelencia Severo Ochoa 2019–2023” Program (CEX2018-000806-S), and support from the Generalitat de Catalunya through the CERCA Program., Supplementary Information The online version contains supplementary material available at https://doi.org/10.1038/s41598-022-25789-9., Breast and prostate cancers have been associated with circadian disruption. Some previous studies examined associations of sleep duration and breast or prostate cancer risk though findings remain inconsistent. This study examines associations of a range of detailed sleep characteristics and breast and prostate cancer risk in a large-scale population-based case–control study, MCC-Spain. A total of 1738 incident breast cancer cases, 1112 prostate cancer cases and frequency matched controls (n = 1910, and 1493 respectively) were recruited. Detailed data on habitual sleep duration, quality, timing, and daytime napping (“siesta”) were collected at recruitment. Additional data on sleep habits during both the previous year and at age 40 years were also subsequently captured. Adjusted odds ratios (ORs) and 95% confidence intervals (CI) were estimated. There were no associations of habitual sleep duration (h), timing of sleep, or any or specific sleep problems, and either breast and prostate cancer risk. There was a significant positive association of ever taking habitual siestas at recruitment and breast cancer risk (OR = 1.22, 95% CI 1.06–1.42), which strengthened with increased frequency or duration. There were also significant positive associations observed for both breast and prostate cancer, among those reporting recent sleep problems, but not sleep problems at age 40 years, in a subsequent circadian questionnaire. Adverse associations with siesta and disturbed sleep during the previous year likely reflect symptoms of developing/diagnosed cancer and comorbidities. Overall, there was no clear association between various sleep characteristics and breast or prostate cancer risk observed., Basque Country, Catalan Government DURSI 2014SGR647, 2014SGR850, 2017SGR1085, 2017SGR723, Consejería de Salud of the Junta de Andalucía PI-0306-2011, PI-0571-2009, Spanish Association Against Cancer, Fundación Bancaria Caja de Ahorros de Asturias, Ministerio de Ciencia, Innovación y Universidades, Eno Scientific Foundation, European Commission FOOD-CT-2006-036224-HIWATE, Fundación Científica Asociación Española Contra el Cáncer, Generalitat de Catalunya, Instituto de Salud Carlos III CIBERESP CB06/02/0073, PI08/1359, PI08/1770, PI09/00773, PI09/01286, PI09/01662, PI09/01903, PI09/02078, PI11/01403, PI11/01889, PI11/02213, PI12/00150, PI12/00265, PI12/00715, PI12/01270, PI14/01219, PI14/0613, PI15/00069, PI15/00914, PI15/01032, PI17CIII/00034, Ministerio de Ciencia e Innovación CEX2018-000806-S, European Social Fund, Universidad de Oviedo RYC-2017-01892, Consejería de Educación, Junta de Castilla y León LE22A10-2, Conselleria de Sanitat Universal i Salut Pública 2010ACUP 00310, AP_061/10, Fundación Marqués de Valdecilla API 10/09

Published
2022

8. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Author

Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul, Clinical Genetics, Medical Oncology, Surgery, Pathology, Gynecological Oncology, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Lakeman IMM] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [van den Broek AJ, Vos JAM] Division of Molecular Pathology, The Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. [Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Adlard J] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [Balmaña J] Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Human Genetics, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Quality of Care, Chapel Allerton Hospital, University of Leeds, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Reykjavík University, Division of Oncology, Department of Gynaecology and Obstetrics, University Hospital Schleswig–Holstein, The University of Texas M.D. Anderson Cancer Center [Houston], Unitat d'Alt Risc i Prevenció del Càncer, Vall d'Hebron University Hospital [Barcelona], University of Cambridge [UK] (CAM), Group of Human Genetics, Human Cancer Genetics Programme, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Section of Genetic Oncology, University of Pisa - Università di Pisa, Columbia University [New York], Ghent University Hospital, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Laboratory Medicine and Pathology, Mayo Clinic, Division of Population Science, Fox Chase Cancer Center, Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), CHU Grenoble, CHI Poissy-Saint-Germain, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and Klinische Genetica

Subjects
0301 basic medicine, Percentile, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [DISEASES], Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], SUSCEPTIBILITY ALLELES, Diàtesi, FAMILIES, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], MESH: BRCA2 Protein, Breast cancer, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Other subheadings::/diagnosis [Other subheadings], Medicine and Health Sciences, Medicine, Mama - Càncer - Diagnòstic, Family history, skin and connective tissue diseases, Genetics (clinical), MESH: Heterozygote, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, BRCA1 Protein, Hazard ratio, MESH: Genetic Predisposition to Disease, 1184 Genetics, developmental biology, physiology, article, OVARIAN, BRCA2 Protein/genetics, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 3. Good health, 030220 oncology & carcinogenesis, Female, Malalties congènites, Adult, Heterozygote, medicine.medical_specialty, MESH: Mutation, Risk factors in diseases, Otros calificadores::/diagnóstico [Otros calificadores], Breast Neoplasms, Context (language use), MUTATION CARRIERS, Càncer de mama, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad [ENFERMEDADES], 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, Humans, Genetic Predisposition to Disease, MESH: BRCA1 Protein, Retrospective Studies, BRCA2 Protein, MESH: Humans, business.industry, Proportional hazards model, CONSORTIUM, Breast Neoplasms/diagnosis, MESH: Adult, MESH: Retrospective Studies, Retrospective cohort study, medicine.disease, Confidence interval, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, BRCA1 Protein/genetics, 3111 Biomedicine, business, MESH: Female, MESH: Breast Neoplasms
Abstract

Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic variant Purpose To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC

Published
2021

9. Genetic and psychosocial stressors have independent effects on the level of subclinical psychosis: findings from the multinational EU-GEI study

Author

B. Pignon, H. Peyre, A. Ayrolles, J. B. Kirkbride, S. Jamain, A. Ferchiou, J. R. Richard, G. Baudin, S. Tosato, H. Jongsma, L. de Haan, I. Tarricone, M. Bernardo, E. Velthorst, M. Braca, C. Arango, M. Arrojo, J. Bobes, C. M. Del-Ben, M. Di Forti, C. Gayer-Anderson, P. B. Jones, C. La Cascia, A. Lasalvia, P. R. Menezes, D. Quattrone, J. Sanjuán, J. P. Selten, A. Tortelli, P. M. Llorca, J. van Os, B. P. F. Rutten, R. M. Murray, C. Morgan, M. Leboyer, A. Szöke, F. Schürhoff, Pignon B., Peyre H., Ayrolles A., Kirkbride J.B., Jamain S., Ferchiou A., Richard J.R., Baudin G., Tosato S., Jongsma H., de Haan L., Tarricone I., Bernardo M., Velthorst E., Braca M., Arango C., Arrojo M., Bobes J., Del-Ben C.M., Di Forti M., Gayer-Anderson C., Jones P.B., La Cascia C., Lasalvia A., Menezes P.R., Quattrone D., Sanjuan J., Selten J.P., Tortelli A., Llorca P.M., van Os J., Rutten B.P.F., Murray R.M., Morgan C., Leboyer M., Szoke A., Schurhoff F., Pignon, B [0000-0003-0526-3136], Ayrolles, A [0000-0002-3202-0781], Kirkbride, JB [0000-0003-3401-0824], Tosato, S [0000-0002-9665-7538], Lasalvia, A [0000-0001-9963-6081], Morgan, C [0000-0002-1386-2369], Apollo - University of Cambridge Repository, Pignon, B, Peyre, H, Ayrolles, A, Kirkbride, J B, Jamain, S, Ferchiou, A, Richard, J R, Baudin, G, Tosato, S, Jongsma, H, de Haan, L, Tarricone, I, Bernardo, M, Velthorst, E, Braca, M, Arango, C, Arrojo, M, Bobes, J, Del-Ben, C M, Di Forti, M, Gayer-Anderson, C, Jones, P B, La Cascia, C, Lasalvia, A, Menezes, P R, Quattrone, D, Sanjuán, J, Selten, J P, Tortelli, A, Llorca, P M, van Os, J, Rutten, B P F, Murray, R M, Morgan, C, Leboyer, M, Szöke, A, Schürhoff, F, Adult Psychiatry, APH - Mental Health, ANS - Complex Trait Genetics, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, MUMC+: Hersen en Zenuw Centrum (3), MUMC+: VPK Flexteam IC (9), MUMC+: MA Psychiatrie (3), and RS: MHeNs - R3 - Neuroscience

Subjects
Schizophrenia/genetics, Environmental effects on human beings, Risk factors in diseases, Epidemiology, Psicosi, psychosi, Pathological psychology, Genes × environment interaction, Risk Factors, Settore MED/48 -Scienze Infermierist. e Tecn. Neuro-Psichiatriche e Riabilitat, psychosocial stressors, Humans, psychosis, Psychotic Disorders/genetics, Settore MED/25 - Psichiatria, Influència del medi ambient en l'home, Genètica de la conducta, Factors de risc en les malalties, Genes × environment interactions, Public Health, Environmental and Occupational Health, Psychoses, polygenic risk score for schizophrenia, Psicopatologia, Psychiatry and Mental health, Psychotic Disorders, Behavior genetics, Schizophrenia, Esquizofrènia, Gene-Environment Interaction
Abstract

the Spanish Ministry of Science and Innovation. Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024), co-financed by ERDF Funds from the European Commission, ‘A way of making Europe’, CIBERSAM. Madrid Regional Government (B2017/BMD-3740 AGES-CM-2), European Union Structural Funds. European Union Seventh Framework Program under grant agreements FP7-4-HEALTH-2009-2.2.1-2-241909 (Project EU-GEI) and FP7-HEALTH-2013-2.2.1-2-603196 (Project PSYSCAN); and European Union H2020 Program under the Innovative Medicines Initiative 2 Joint Undertaking (grant agreement No 115916, Project PRISM, and grant agreement No 777394, Project AIMS-2-TRIALS) (...), Pignon B, Peyre H, Ayrolles A, Kirkbride JB, Jamain S, Ferchiou A, Richard JR, Baudin G, Tosato S, Jongsma H, de Haan L, Tarricone I, Bernardo M, Velthorst E, Braca M, Arango C, Arrojo M, Bobes J, Del-Ben CM, Di Forti M, Gayer-Anderson C, Jones PB, La Cascia C, Lasalvia A, Menezes PR, Quattrone D, Sanjuán J, Selten JP, Tortelli A, Llorca PM, van Os J, Rutten BPF, Murray RM, Morgan C, Leboyer M, Szöke A, Schürhoff F

Published
2022
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10. Association of time of breakfast and nighttime fasting duration with breast cancer risk in the multicase-control study in Spain

Author

Anna Palomar-Cros, Barbara N. Harding, Ana Espinosa, Kyriaki Papantoniou, Beatriz Pérez-Gómez, Kurt Straif, Eva Ardanaz, Tania Fernández Villa, Pilar Amiano, Inés Gómez-Acebo, Victor Moreno, Juan Alguacil, Guillermo Fernández-Tardón, Ana Molina-Barceló, Rafael Marcos-Gragera, Nuria Aragonés, Gemma Castaño-Vinyals, Marcela Guevara, Alba Marcos Delgado, Marina Pollán, Dora Romaguera, Manolis Kogevinas, Instituto de Salud Carlos III, Fundación Marqués de Valdecilla, International Cancer Genome Consortium, Ministerio de Economía y Competitividad (España), Red Temática de Investigación Cooperativa en Cáncer (España), Junta de Castilla y León (España), Regional Government of Andalusia (España), Generalitat Valenciana (España), Fundación La Caixa, Basque Government (España), Gobierno de la Región de Murcia (España), Unión Europea. Comisión Europea, Asociación Española Contra el Cáncer, Government of Catalonia (España), Fundación Caja de Ahorros de Asturias, University of Oviedo (España), Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España), Ministerio de Economía (España), and Universidad de Cantabria

Subjects
Nutrition and Dietetics, Nighttime fasting duration, Factors de risc en les malalties, Risk factors in diseases, Endocrinology, Diabetes and Metabolism, Meal timing, Circadian nutritional behaviors, Càncer de mama, Chrononutrition, Breast cancer, 32 Ciencias Médicas, Mama -- Càncer, Circadian rhythms, Breast -- Cancer, Ritmes circadiaris, Breast cancer risk, Food Science, Breakfast
Abstract

Circadian nutritional behaviors, defined by the daily eating/fasting cycle, have been linked with breast cancer. This study aimed to further disentangle the association of nighttime fasting duration and time of breakfast with breast cancer risk. We analyzed data from 1,181 breast cancer cases and 1,326 population controls from the Spanish multicase-control study (MCC-Spain), 2008–2013. We collected circadian nutritional behaviors at mid-age via a telephonic interview. We applied logistic regression to estimate odds ratios (OR) and 95% confidence intervals (CIs) for the association of nighttime fasting duration and time of breakfast with breast cancer risk in all women and stratified by menopausal status. Models were adjusted for age, center, education, family history of breast cancer, age at menarche, number of children, breastfeeding, age at first child, body mass index (BMI), contraceptive use, and hormonal replacement therapy (HRT). A later time of breakfast was associated with a non-significant increased risk of breast cancer (OR = 1.05, 95% CI: 0.95–1.16, per hour increase). This association was stronger among premenopausal women, among whom each hour later, the time of breakfast was associated with an 18% increase in breast cancer risk (OR = 1.18, 95% CI: 1.01–1.40). The association was not observed in postmenopausal women. We did not observe an association between nighttime fasting duration and breast cancer risk after adjusting for the time of breakfast. In this study, late breakfast was associated with increased breast cancer risk, especially among premenopausal women, compared with early breakfast. Aside from nutritional quality, circadian nutritional behaviors should be further studied in relation to cancer., This study was partially funded by the “Accion Transversal del Cancer,” approved on the Spanish Ministry Council on the 11 October 2007, Instituto de Salud Carlos III-FEDER (PI08/1770, PI08/0533, PI08/1359, PS09/00773, PS09/01286, PS09/01903, PS09/02078, PS09/01662, PI11/01889, PI11/02213, PI12/00488, PI12/01270, PI12/00715, PI14/01219, PI14/0613, and PI17/01388), Fundación Marqués de Valdecilla (API 10/09), the ICGC International Cancer Genome Consortium CLL [The ICGC CLL-Genome Project was funded by Spanish Ministerio de Economía y Competitividad (MINECO) through the Instituto de Salud Carlos III (ISCIII) and Red Temática de Investigación del Cáncer (RTICC) del ISCIII (RD12/0036/0036)], the Junta de Castilla y León (LE22A10- 2), the Consejería de Salud of the Junta de Andalucía (PI-0571-2009, PI-0306-2011, and salud201200057018tra), the Conselleria de Sanitat of the Generalitat Valenciana (AP_061/10), the Recercaixa (2010ACUP 00310), the Regional Government of the Basque Country, the Consejería de Sanidad de la Región de Murcia, by the European Commission grants FOOD-CT-2006-036224-HIWATE, the Spanish Association Against Cancer (AECC) Scientific Foundation, by the Catalan Government—Agency for Management of University and Research Grants (AGAUR) grants 2017SGR723 and 2014SGR850, the Fundación Caja de Ahorros de Asturias, and the University of Oviedo. ISGlobal acknowledges support from the Spanish Ministry of Science and Innovation through the “Centro de Excelencia Severo Ochoa 2019–2023” Program (CEX2018-000806-S) and support from the Generalitat de Catalunya through the CERCA Program. AP-C was supported by the MINECO (Ministry of Economy in Spain) Grant no. PRE2019-089038, fellowship.

Published
2022

11. The association between frailty risk and COVID-19-associated all-mortality in hospitalised older people : a national cohort study

Author

Laia Maynou, Rhiannon Owen, Rob Konstant-Hambling, Towhid Imam, Suzanne Arkill, Deborah Bertfield, Andrew Street, Keith R. Abrams, and Simon Conroy

Subjects
Aged, 80 and over, Frailty, Factors de risc en les malalties, Risk factors in diseases, Frail Elderly, COVID-19, HV Social pathology. Social and public welfare. Criminology, Cohort Studies, Fragilitat, RA0421 Public health. Hygiene. Preventive Medicine, Mortalitat, Humans, Female, Mortality, Brittleness, RB, Pandemics, RA, Aged, Retrospective Studies
Abstract

Introduction Frailty has emerged as an important construct to support clinical decision-making during the COVID-19 pandemic. However, doubts remain related to methodological limitations of published studies. Methods Retrospective cohort study of all people aged 75 + admitted to hospital in England between 1 March 2020 and 31 July 2021. COVID-19 and frailty risk were captured using International Classification of Disease-10 (ICD-10) diagnostic codes. We used the generalised gamma model to estimate accelerated failure time, reporting unadjusted and adjusted results. Results The cohort comprised 103,561 individuals, mean age 84.1, around half female, 82% were White British with a median of two comorbidities. Frailty risk was distributed approximately 20% low risk and 40% each at intermediate or high risk. In the unadjusted survival plots, 28-day mortality was almost 50% for those with an ICD-10 code of U071 (COVID-19 virus identified), and 25–35% for those with U072 (COVID-19 virus not identified). In the adjusted analysis, the accelerated failure time estimates for those with intermediate and high frailty risk were 0.63 (95% CI 0.58–0.68) and 0.67 (95% CI 0.62–0.72) fewer days alive respectively compared to those with low frailty risk with an ICD-10 diagnosis of U072 (reference category). Conclusion In older people with confirmed COVID-19, both intermediate and high frailty risk were associated with reduced survival compared to those with low frailty risk.

Published
2022

12. Risk factors of catheter- associated bloodstream infection: Systematic review and meta-analysis

Author

Elisabeth Lafuente Cabrero, Roser Terradas Robledo, Anna Civit Cuñado, Diana García Sardelli, Carlota Hidalgo López, Dolors Giro Formatger, Laia Lacueva Perez, Cristina Esquinas López, and Avelina Tortosa Moreno

Subjects
Meta-analysis, Catheters, Multidisciplinary, Factors de risc en les malalties, Risk factors in diseases, Systematic reviews (Medical research), Malalties hematològiques, Catèters, Hematologic diseases, Ressenyes sistemàtiques (Investigació mèdica), Metaanàlisi
Abstract

Introduction The prevalence of catheter-associated bloodstream infections (CLABSI) is high and is a severe health problem associated with an increase in mortality and elevated economic costs. There are discrepancies related to the risk factors of CLABSI since the results published are very heterogeneous and there is no synthesis in the description of all the predisposing factors. Objective We aimed to perform a systematic review and meta-analysis to synthesize and establish the risk factors predisposing to CLABSI reported in the literature. Method This is a systematic review of observational studies following the PRISMA recommendations. MEDLINE and CINAHL databases were searched for primary studies from 2007 to 2021. The protocol was registered in PROSPERO CRD42018083564. Results A total of 654 studies were identified, 23 of which were included in this systematic review. The meta-analysis included 17 studies and 9 risk factors were analyzed (total parenteral nutrition (TPN), chemotherapy, monolumen and bilumen catheters, days of catheterization, immunosuppression, kidney disease and diabetes mellitus) due to the homogeneity of their definitions and measurements. The risk factors found to increase the probability of developing CLABSI were TPN, multilumen devices, chemotherapy treatment, immunosuppression and the number of days of catheterization. On the other hand, monolumen devices presented a lower likelihood of triggering this infection.

Published
2023

13. Psychosocial risk factors for impaired health-related quality of life in living kidney donors: results from the ELIPSY prospective study

Author

Christina Papachristou, Inês C. Frade, L. Yucetin, Ignacio Revuelta, Ingela Fehrman-Ekholm, Martí Manyalich, Entela Kondi, Xavier Torres, Niclas Kvarnström, Ana Menjivar, Alice Lopes, Erika De Sousa-Amorim, Federico Oppenheimer, Leonídio Dias, David Paredes, Josep M. Peri, Chloë Ballesté, Christian Hiesse, and Fritz Diekmann

Subjects
Gerontology, Adult, Male, Risk factors in diseases, media_common.quotation_subject, Science, Population, 030232 urology & nephrology, 030230 surgery, Article, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Medical research, Risk Factors, Organ donors, Living Donors, Personality, Medicine, Psychology, Cluster Analysis, Humans, Prospective Studies, Prospective cohort study, education, media_common, education.field_of_study, Multidisciplinary, business.industry, Factors de risc en les malalties, Middle Aged, Mental health, Kidney Transplantation, Logistic Models, Social Class, Nephrology, Donation, Quality of Life, Female, Risk assessment, business, Donants d'òrgans, Psychosocial
Abstract

Living kidney donors’ follow-up is usually focused on the assessment of the surgical and medical outcomes. Whilst the psychosocial follow-up is advocated in literature. It is still not entirely clear which exact psychosocial factors are related to a poor psychosocial outcome of donors. The aim of our study is to prospectively assess the donors’ psychosocial risks factors to impaired health-related quality of life at 1-year post-donation and link their psychosocial profile before donation with their respective outcomes. The influence of the recipient’s medical outcomes on their donor’s psychosocial outcome was also examined. Sixty donors completed a battery of standardized psychometric instruments (quality of life, mental health, coping strategies, personality, socio-economic status), and ad hoc items regarding the donation process (e.g., motivations for donation, decision-making, risk assessment, and donor-recipient relationship). Donors’ 1-year psychosocial follow-up was favorable and comparable with the general population. So far, cluster-analysis identified a subgroup of donors (28%) with a post-donation reduction of their health-related quality of life. This subgroup expressed comparatively to the rest, the need for more pre-donation information regarding surgery risks, and elevated fear of losing the recipient and commitment to stop their suffering.

Published
2020

14. Incidence, Risk Factors, and Outcomes of Rhegmatogenous Retinal Detachment after Intravitreal Injections of Anti-VEGF for Retinal Diseases: Data from the Fight Retinal Blindness! Registry

Author

Gabrielle, Pierre Henry, Nguyen, Vuong, Arnould, Louis, Viola, Francesco, Zarranz Ventura, Javier, Barthelmes, Daniel, Creuzot-Garcher, Catherine, Gillies, Mark C, and Fight Retinal Blindness! Study Group.

Subjects
Malalties de la retina, Vascular endothelial growth factors, Factor de creixement de l'endoteli vascular, Factors de risc en les malalties, Risk factors in diseases, Retinal detachment, Despreniment de retina, Injeccions, Retinal diseases, Injections
Abstract

Purpose: To report the estimated incidence, probability, risk factors, and 1-year outcomes of rhegmatogenous retinal detachment (RRD) in eyes receiving intravitreal injections (IVTs) of VEGF inhibitors for various retinal conditions in routine clinical practice. Design: Retrospective analysis of data from a prospectively designed observational outcomes registry: the Fight Retinal Blindness! Participants: Eyes of patients starting IVTs of VEGF inhibitors (ranibizumab, aflibercept, or bevacizumab) for neovascular age-related macular degeneration, diabetic macular edema, or retinal vein occlusion from January 1, 2006, to December 31, 2020. All eyes that developed RRD within 90 days of IVTs were defined as cases with RRD and were matched with control eyes. Methods: Estimated incidence, probability, and hazard ratios (HRs) of RRD were measured using Poisson regression, Kaplan-Meier survival curve, and Cox proportional hazards models. Locally weighted scatterplot smoothing curves were used to compare visual acuity (VA) between cases and matched controls. Main outcome measures: Estimated incidence of RRD. Results: We identified 16 915 eyes of 13 792 patients who collectively received 265 781 IVTs over 14 years. Thirty-six eyes were reported to develop RRD over the study period. The estimated incidence (95% confidence interval [CI]) per year per 1000 patients and per 10 000 injections was 0.77 (0.54-1.07) and 1.36 (0.95-1.89), respectively. The probability of RRD did not significantly increase at each successive injection (P = 0.95) with the time of follow-up. Older patients (HR [95% CI] = 1.81 [1.21-3.62] for every decade increase in age, P < 0.01) were at a higher risk of RRD, whereas patients with good presenting VA (HR [95% CI] = 0.85 [0.70-0.98] for every 10-letter increase in VA, P = 0.02) were at a lower risk. Neither the type of retinal disease (P = 0.52) nor the VEGF inhibitor (P = 0.09) was significantly associated with RRD risk. Cases with RRD lost 3 lines of vision on average compared with the prior RRD VA and had significantly fewer injections than matched controls over the year after the RRD. Conclusions: Rhegmatogenous retinal detachment is a rare complication of VEGF inhibitor IVT in routine clinical practice with poor visual outcomes at 1 year.

Published
2022

15. Effects of the Prior Use of Statins on Head and Neck Cancer Risk: A Hospital-Based Case–Control Study

Author

Constanza Saka-Herrán, Enric Jané-Salas, Antonio Mano-Azul, Aina Torrejón-Moya, Albert Estrugo-Devesa, and José López-López

Subjects
Head cancer, statins, hydroxymethilglutaryl-CoA reductase inhibitors, head and neck cancer, head and neck neoplasms, cancer, risk, Factors de risc en les malalties, Risk factors in diseases, Drug Discovery, Pharmaceutical Science, Molecular Medicine, Neck cancer, Càncer de cap, Càncer de coll
Abstract

Mechanisms related to the potential beneficial effects of statins on cancer are mainly related to the inhibition of the mevalonate pathway. The purpose of this study was to assess the association between prior use of statins and the risk of head and neck cancer. A hospital-based case–control study was conducted at the Dentistry Hospital of the University of Barcelona, including 101 incident cases of head and neck cancer and 101 controls matched to cases by age and sex. Multivariate logistic regression models were used to assess the association between prior statin exposure and head and neck cancer risk. Of the 202 patients included in total, 28.2% had previously received prescriptions for statins. Prior use of statins was found in 25.7% of cases and 30.7% of controls. Exposure to statins was not associated with head and neck cancer risk (OR = 0.72; 95% CI 0.28–1.84; p = 0.49). There was also no time- or dose-dependent association. Similar trends were observed when analyzed by subsites of cancer and recurrence rate. Our findings do not support a beneficial effect of prior statin exposure on head and neck cancer risk. Future research relying on observational data should emulate randomized clinical trials before clinical implications for repurposing drugs can be drawn.

Published
2022
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16. Impact of Integrated Care Management on Clinical Outcomes in Atrial Fibrillation Patients: A Report From the FANTASIIA Registry

Author

Esteve Pastor, María Asunción, Ruiz Ortiz, Martín, Muñiz, Javier, Roldán Rabadán, Inmaculada, Otero, Déborah, Cequier Fillat, Àngel R., Bertomeu Martínez, Vicente, Badimón, Lina, 1953, Anguita, Manuel, Lip, Gregory Y. H., Marín, Francisco, and FANTASIIA Study Investigators

Subjects
Medical care, Factors de risc en les malalties, Risk factors in diseases, Patient adherence, Atrial fibrillation, Fibrilación auricular, Risk factors, Assistència sanitària, Fibril·lació auricular, ABC-Pathway, Enfoque integrado, Integrated approach, Cardiology and Cardiovascular Medicine, Factores de riesgo
Abstract

BackgroundAn integrated and holistic approach is increasingly advocated in patients with atrial fibrillation (AF), based on the “Atrial fibrillation Better Care (ABC) pathway: A, Avoid stroke with anticoagulation; B, better symptom management; C, cardiovascular and comorbidity risk management.” The aim of this study was to examine the prevalence of adherence to each component of the ABC pathway and to analyze its impact on long-term prognosis in the “real-world” cohort of AF patients from the FANTASIIA registry.MethodsThis prospective study included consecutive AF outpatients anticoagulated with direct oral anticoagulants (DOAC) or vitamin K antagonists (VKA) from June 2013 to October 2014. From the ABC pathway, adherence to the “A criterion” was defined by a time in the therapeutic range (TTR) ≥ 70% or correct dose with DOAC; “B criterion” adherence was defined by a European Heart Rhythm Association (EHRA) Symptom Scale I-II; and “C criterion” adherence was defined as optimized risk factors and comorbidity management. Baseline features and embolic events, severe bleeding, and all-cause and cardiovascular mortality rates up to 3 years of follow-up were analyzed, and a Cox multivariate analysis was performed to investigate the role of each component of the ABC pathway in predicting major events.ResultsA total of 1,955 AF patients (age: 74.4 ± 9.4 years; 43.2% female patients) were included in this study: adherence to A criterion was observed in 920 (47.1%) patients; adherence to B criterion was observed in 1,791 (91.6%) patients; and adherence to C criterion was observed in 682 (34.8%) patients. Only 394 (20.2%) of the whole population had good control of AF according to the ABC pathway. After a median follow-up of 1,078 days (IQR: 766–1,113), adherence to A criterion was independently associated with reduced cardiovascular mortality [HR: 0.67, 95%CI (0.45–0.99); p = 0.048] compared with non-adherence. Adherence to the B criterion was independently associated with reduced stroke [HR: 0.28, 95%CI (0.14–0.59); p < 0.001], all-cause mortality [HR: 0.49, 95%CI (0.35–0.69); p < 0.001], cardiovascular mortality [HR: 0.39, 95%CI (0.25–0.62); p < 0.001], and major adverse cardiovascular events (MACE) [HR: 0.41, 95%CI (0.28–0.62); p < 0.001] compared with non-adherence. AF patients with C criterion adherence had a significantly lower risk of myocardial infarction [HR: 0.31, 95%CI (0.15–0.66); p < 0.001]. Fully adherent ABC patients had a significant reduction in MACE [HR: 0.64, 95%CI (0.42–0.99); p = 0.042].ConclusionIn real-world anticoagulated AF patients from FANTASIIA registry, we observed a lack of adherence to integrated care management of AF following the ABC pathway. AF managed according to the ABC pathway was associated with a significant reduction in adverse outcomes during long follow-up, suggesting the benefit of a holistic and integrated approach to AF management.

Published
2022

17. Risk factors and incidence of invasive bacterial infection in severe bronchiolitis: the RICOIB prospective study

Author

Carmina Guitart, Carme Alejandre, Sara Bobillo-Perez, Monica Girona-Alarcon, Anna Sole-Ribalta, Francisco Jose Cambra, Monica Balaguer, and Iolanda Jordan

Subjects
Bacteria, Infection in children, Community-acquired pneumonia, Factors de risc en les malalties, Risk factors in diseases, Incidence, Respiratory diseases in children, Malalties de l'aparell respiratori en els infants, Infant, Bacterial Infections, Length of Stay, Intensive Care Units, Pediatric, Respiration, Artificial, Bacteris, Pneumònia adquirida a la comunitat, Risk Factors, Pediatrics, Perinatology and Child Health, Bronchiolitis, Humans, Prospective Studies, Child, Infeccions en els infants, Retrospective Studies
Abstract

Background Bacterial infection (BI), both community-acquired (CA-BI) and hospital-acquired (HAI), might present as a severe complication in patients with bronchiolitis. This study aimed to describe BI in children with severe bronchiolitis, and to define risk factors for BI. Methods This was a prospective, descriptive study that included infants admitted to the pediatric intensive care unit (PICU) due to bronchiolitis between 2011 and 2017. The BROSJOD score was calculated to rate the severity of bronchiolitis. Results Inclusion of 675 patients, with a median age of 47 days (IQR 25–99). 175 (25.9%) patients developed BI, considered HAI in 36 (20.6%). Patients with BI had higher BROSJOD score, PRISM III, and required invasive mechanical ventilation and inotropic support more frequently (p 12 (OR 2.435, 95%CI 1.379–4.297) and bacterial co-infection (OR 2.294 95%CI 1.051–5.008). Concerning HAI, an independent association was shown with mechanical ventilation longer than 7 days (OR 5.139 95%CI 1.802–14.652). Infants with BI had longer PICU and hospital stay (p Conclusions A quarter of infants with severe bronchiolitis developed BI. A BROSJOD > 12 may alert the presence of CA-BI, especially pneumonia. Patients with BI have higher morbidity and mortality.

Published
2022

18. Impact of COVID-19 Lockdown on Anthropometric Variables, Blood Pressure, and Glucose and Lipid Profile in Healthy Adults: A before and after Pandemic Lockdown Longitudinal Study

Author

José Ignacio Ramírez Manent, Bárbara Altisench Jané, Pilar Sanchís Cortés, Carla Busquets-Cortés, Sebastiana Arroyo Bote, Luis Masmiquel Comas, and Ángel Arturo López González

Subjects
Adult, Male, Nutrition and Dietetics, SARS-CoV-2, Factors de risc en les malalties, Malalties cardiovasculars, Risk factors in diseases, COVID-19, cardiovascular risk factors, lockdown, disease, Blood Pressure, Confinament (Emergència sanitària), Lipids, Glucose, Confinement (Sanitary emergency), Cardiovascular diseases, Communicable Disease Control, Humans, Female, Longitudinal Studies, Prospective Studies, Pandemics, Food Science
Abstract

In December 2019, 27 cases of pneumonia were reported in Wuhan. In 2020, the causative agent was identified as a virus called SARS-CoV-2. The disease was called “coronavirus disease 2019” (COVID-19) and was determined as a Public Health Emergency. The main measures taken to cope with this included a state of lockdown. The aim of this study was to assess how the unhealthy lifestyles that ensued influenced different parameters. A prospective study was carried out on 6236 workers in a Spanish population between March 2019 and March 2021. Anthropometric, clinical, and analytical measurements were performed, revealing differences in the mean values of anthropometric and clinical parameters before and after lockdown due to the pandemic, namely increased body weight (41.1 ± 9.9–43.1 ± 9.9), BMI (25.1 ± 4.7–25.9 ± 4.7), and percentage of body fat (24.5 ± 9.1–26.9 ± 8.8); higher total cholesterol levels, with a statistically significant increase in LDL levels and a reduction in HDL; and worse glucose levels (90.5 ± 16.4–95.4 ± 15.8). Lockdown can be concluded to have had a negative effect on health parameters in both sexes in all age ranges, causing a worsening of cardiovascular risk factors.

Published
2022
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19. Identification of Novel Loci and New Risk Variant in Known Loci for Colorectal Cancer Risk in East Asians

Author

Jirong Long, Anna H. Wu, Min-Ho Shin, Tabitha A. Harrison, Kenneth Offit, Ulrike Peters, Yoon-Ok Ahn, Fränzel J.B. Van Duijnhoven, Jochen Hampe, Qiuyin Cai, Stephanie J. Weinstein, Annika Lindblom, Zhi Zhong Pan, Keum Ji Jung, Chizu Tanikawa, Wanqing Wen, Andrew T. Chan, Wei Hua Jia, Yu-Tang Gao, Isao Oze, Keitaro Matsuo, Zefang Ren, Sun-Seog Kweon, Paul D.P. Pharoah, Victor Moreno, Pavel Vodicka, Yong-Bing Xiang, Jeroen R. Huyghe, Aesun Shin, Dong Hyun Kim, Sun Ha Jee, Koichi Matsuda, Jae Hwan Oh, Andrea Gsur, Yi Xin Zeng, Yingchang Lu, Nan Wang, Jiajun Shi, Wei Zheng, Bethany Van Guelpen, Loic Le Marchand, Li Li, Honglan Li, Jeongseon Kim, Alicja Wolk, Xingyi Guo, Polly A. Newcomb, Yoichiro Kamatani, Li Hsu, Jing Gao, Xiao-Ou Shu, Bingshan Li, and Long, Jirong

Subjects
Male, 0301 basic medicine, Oncology, Nutrition and Disease, Epidemiology, Colorectal cancer, Linkage Disequilibrium, 0302 clinical medicine, INDEL Mutation, Japan, Risk Factors, Voeding en Ziekte, Factors de risc en les malalties, Middle Aged, 3. Good health, Asians, Risk variant, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Female, Identification (biology), Colorectal Neoplasms, Adult, China, medicine.medical_specialty, Risk factors in diseases, MEDLINE, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Asian People, Càncer colorectal, Internal medicine, Asiàtics, Republic of Korea, medicine, Life Science, Humans, Genetic Predisposition to Disease, Aged, Extramural, business.industry, Cancer, medicine.disease, 030104 developmental biology, Genetic Loci, Case-Control Studies, business, Genome-Wide Association Study
Abstract

Background: Risk variants identified so far for colorectal cancer explain only a small proportion of familial risk of this cancer, particularly in Asians. Methods: We performed a genome-wide association study (GWAS) of colorectal cancer in East Asians, including 23,572 colorectal cancer cases and 48,700 controls. To identify novel risk loci, we selected 60 promising risk variants for replication using data from 58,131 colorectal cancer cases and 67,347 controls of European descent. To identify additional risk variants in known colorectal cancer loci, we performed conditional analyses in East Asians. Results: An indel variant, rs67052019 at 1p13.3, was found to be associated with colorectal cancer risk at P = 3.9 × 10–8 in Asians (OR per allele deletion = 1.13, 95% confidence interval = 1.08–1.18). This association was replicated in European descendants using a variant (rs2938616) in complete linkage disequilibrium with rs67052019 (P = 7.7 × 10–3). Of the remaining 59 variants, 12 showed an association at P < 0.05 in the European-ancestry study, including rs11108175 and rs9634162 at P < 5 × 10−8 and two variants with an association near the genome-wide significance level (rs60911071, P = 5.8 × 10−8; rs62558833, P = 7.5 × 10−8) in the combined analyses of Asian- and European-ancestry data. In addition, using data from East Asians, we identified 13 new risk variants at 11 loci reported from previous GWAS. Conclusions: In this large GWAS, we identified three novel risk loci and two highly suggestive loci for colorectal cancer risk and provided evidence for potential roles of multiple genes and pathways in the etiology of colorectal cancer. In addition, we showed that additional risk variants exist in many colorectal cancer risk loci identified previously. Impact: Our study provides novel data to improve the understanding of the genetic basis for colorectal cancer risk.

Published
2020

20. Time to sputum conversion in patients with pulmonary tuberculosis: A score to estimate the infectious period

Author

Maria Ramirez-Hidalgo, Javier Trujillano-Cabello, Adrià Esplugues-Vidal, Mercé Reñé-Reñé, Miguel Santin, Adrián Sanchez-Montalva, Albert Bernet-Sanchez, Laura Gros-Naves, and Miquel Falguera

Subjects
Microbiology (medical), Pulmonary and Respiratory Medicine, Infectious Diseases, Tuberculosi, Factors de risc en les malalties, Risk factors in diseases, Sputum, Esput, Tuberculosis
Abstract

Purpose Patients with pulmonary tuberculosis (PTB) disease and positive sputum cultures are the main source of infection. Culture conversion time is inconsistent and defining the length of respiratory isolation is challenging. The objective of this study is to develop a score to predict the length of isolation period. Methods A retrospective study was carried out to evaluated risk factors associated with persistent positive sputum cultures after 4 weeks of treatment in 229 patients with PTB. A multivariable logistic regression model was used to determinate predictors for positive culture and a scoring system was created based on the coefficients of the final model. Results Sputum culture was persistently positive in 40.6%. Fever at consultation (1.87, 95% CI:1.02–3.41), smoking (2.44, 95% CI:1.36–4.37), > 2 affected lung lobes (1.95, 95% CI:1.08–3.54), and neutrophil-to-lymphocyte ratio > 3.5 (2.22, 95% CI:1.24–3.99), were significantly associated with delayed culture conversion. Therefore, we assembled a severity score that achieved an area under the curve of 0.71 (95% CI:0.64–0.78). Conclusions In patients with smear positive PTB, a score with clinical, radiological and analytical parameters can be used as a supplemental tool to assist clinical decisions in isolation period.

Published
2022

21. Risk Factors for Acute Kidney Injury Following Cardiac Surgery and Performance of Leicester Score in a Spanish Cohort

Author

Alícia Molina Andújar, Alvaro Lucas, Victor Joaquin Escudero, Irene Rovira, Purificación Matute, Cristina Ibañez, Miquel Blasco, Elena Sandoval, Jesús Ruiz, Marina Chorda Sánchez, Gaston J. Piñeiro, Eduard Quintana, and Esteban Poch

Subjects
Kidney diseases, Intensive care units, Factors de risc en les malalties, Risk factors in diseases, Cirurgia cardíaca, Leicester (Anglaterra), Leicester (England), Malalties del ronyó, General Medicine, acute kidney injury, cardiac surgery, Leicester score, prediction, risk factors, intensive care unit, urologic and male genital diseases, Unitats de cures intensives, Heart surgery
Abstract

The incidence of acute kidney injury following cardiac surgery (CSA-AKI) is up to 30%, and it places patients at an increased risk of death. The Leicester score (LS) is a new score that predicts CSA-AKI of any stage with better discrimination compared to previous scores. The aim of this study was to identify risk factors for CSA-AKI and to assess the performance of LS. A unicentric retrospective study of patients that required cardiac surgery with cardio-pulmonary bypass (CPB) in 2015 was performed. The inclusion criteria were patients over 18 years old who were operated on for cardiac surgery (valve substitution (VS), Coronary Artery Bypass Graft (CABG), or a combination of both procedures and requiring CPB). CSA-AKI was defined with the Kidney Disease Improving Global Outcomes (KDIGO) criteria. In the multivariate analysis, hypertension (odds ratio 1.883), estimated glomerular filtration rate (EGFR)

Published
2022
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22. Prodromal phase: Differences in prodromal symptoms, risk factors and markers of vulnerability in first episode mania versus first episode psychosis with onset in late adolescence or adulthood

Author

Norma Verdolini, Roger Borràs, Giulio Sparacino, Marina Garriga, Maria Sagué‐Vilavella, Santiago Madero, Roberto Palacios‐Garrán, Maria Serra, Maria Florencia Forte, Estela Salagre, Alberto Aedo, Pilar Salgado‐Pineda, Irene Montoro Salvatierra, Vanessa Sánchez Gistau, Edith Pomarol‐Clotet, Josep Antoni Ramos‐Quiroga, Andre F. Carvalho, Clemente Garcia‐Rizo, Juan Undurraga, María Reinares, Anabel Martinez Aran, Miguel Bernardo, Eduard Vieta, Isabella Pacchiarotti, and Silvia Amoretti

Subjects
Adult, Trastorn bipolar, Adolescent, Factors de risc en les malalties, Risk factors in diseases, Psicosi, Psychoses, Prodromal Symptoms, Símptomes, Adulthood, Psicosi en els adolescents, Psychiatry and Mental health, Mania, Psychotic Disorders, Risk Factors, Symptoms, Psychoses in adolescence, Adults, Manic-depressive illness, Humans, Retrospective Studies
Abstract

Objective: This study was aimed at identifying differences in the prodromal symptoms and their duration, risk factors and markers of vulnerability in patients presenting a first episode mania (FEM) or psychosis (FEP) with onset in late adolescence or adulthood in order to guide tailored treatment strategies. Methods: Patients with a FEM or FEP underwent a clinical assessment. Prodromes were evaluated with the Bipolar Prodrome Symptom Scale-Retrospective (BPSS-R). Chi-squared tests were conducted to assess specific prodromal symptoms, risk factors or markers of vulnerability between groups. Significant prodromal symptoms were entered in a stepwise forward logistic regression model. The probabilities of a gradual versus rapid onset pattern of the prodromes were computed with logistic regression models. Results: The total sample included 108 patients (FEM = 72, FEP = 36). Social isolation was associated with the prodromal stage of a FEP whilst Increased energy or goal-directed activity with the prodrome to a FEM. Physically slowed down presented the most gradual onset whilst Increased energy presented the most rapid. The presence of obstetric complications and difficulties in writing and reading during childhood were risk factors for FEP. As for markers of vulnerability, impairment in premorbid adjustment was characteristic of FEP patients. No specific risk factor or marker of vulnerability was identified for FEM. Conclusion: Early characteristics differentiating FEP from FEM were identified. These findings might help shape early identification and preventive intervention programmes.

Published
2022

23. La incidencia de los problemas de Salud Mental en la población penitenciaria española y la respuesta de la Administración a esta realidad

Author

Valbuena-Cossío, Raúl and Madrid, Antonio, 1968

Subjects
Master's theses, Serveis sanitaris, Factors de risc en les malalties, Mental illness, Risk factors in diseases, Prisons, Presons, Mental health, Master's thesis, Malalties mentals, Salut mental, Treballs de fi de màster, Health services
Abstract

Treballs Finals del Màster de Criminologia, Política Criminal i Sociologia Juridicopenal, Facultat de Dret, Universitat de Barcelona. Curs: 2020-2021. Tutor: Madrid, Antonio, 1968

Published
2022

24. Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening

Author

Arnau Collell, Coral, Díez Villanueva, Anna, Bellosillo Paricio, Beatriz, Augé, Josep M., Muñoz, Jenifer, Guinó, Elisabet, Moreira, Leticia, Serradesanferm, Anna, Pozo, Àngels, Torà Rocamora, Isabel, Bonjoch, Laia, Ibañez Sanz, Gemma, Obon Santacana, Mireia, Moratalla Navarro, Ferran, Sanz Pamplona, Rebeca, Márquez Márquez, Carmen, Rueda Miret, Rebeca, Pérez Berbegal, Rocio, Piquer Velasco, Gabriel, Hernández Rodríguez, Cristina, Grau, Jaume, Castells, Antoni, Borràs, Josep Maria, Bessa i Caserras, Xavier, Moreno, Víctor, Castellví Bel, Sergi, and CRIPREV consortium

Subjects
Male, Multifactorial Inheritance, Factors de risc en les malalties, Medical screening, Risk factors in diseases, Epidemiology, Colonoscopy, Colorectal cancer, Còlon--Càncer, Cribratge, Oncology, Càncer colorectal, Risk Factors, Occult Blood, Marcadors bioquímics, Mortalitat, Humans, Mass Screening, Female, Colorectal Neoplasms, Early Detection of Cancer
Abstract

Background: Colorectal cancer has high incidence and associated mortality worldwide. Screening programs are recommended for men and women over 50. Intermediate screens such as fecal immunochemical testing (FIT) select patients for colonoscopy with suboptimal sensitivity. Additional biomarkers could improve the current scenario. Methods: We included 2,893 individuals with a positive FIT test. They were classified as cases when a high-risk lesion for colorectal cancer was detected after colonoscopy, whereas the control group comprised individuals with low-risk or no lesions. 65 colorectal cancer risk genetic variants were genotyped. Polygenic risk score (PRS) and additive models for risk prediction incorporating sex, age, FIT value, and PRS were generated. Results: Risk score was higher in cases compared with controls [per allele OR = 1.04; 95% confidence interval (CI), 1.02–1.06; P < 0.0001]. A 2-fold increase in colorectal cancer risk was observed for subjects in the highest decile of risk alleles (≥65), compared with those in the first decile (≤54; OR = 2.22; 95% CI, 1.59–3.12; P < 0.0001). The model combining sex, age, FIT value, and PRS reached the highest accuracy for identifying patients with a high-risk lesion [cross-validated area under the ROC curve (AUROC): 0.64; 95% CI, 0.62–0.66]. Conclusions: This is the first investigation analyzing PRS in a two-step colorectal cancer screening program. PRS could improve current colorectal cancer screening, most likely for higher at-risk subgroups. However, its capacity is limited to predict colorectal cancer risk status and should be complemented by additional biomarkers. Impact: PRS has capacity for risk stratification of colorectal cancer suggesting its potential for optimizing screening strategies alongside with other biomarkers.

Published
2022

25. Development and validation of the new HER2DX assay for predicting pathological response and survival outcome in early-stage HER2-positive breast cancer

Author

Aleix Prat, Valentina Guarneri, Tomás Pascual, Fara Brasó-Maristany, Esther Sanfeliu, Laia Paré, Francesco Schettini, Débora Martínez, Pedro Jares, Gaia Griguolo, Maria Vittoria Dieci, Javier Cortés, Antonio Llombart-Cussac, Benedetta Conte, Mercedes Marín-Aguilera, Nuria Chic, Joan Anton Puig-Butillé, Antonio Martínez, Patricia Galván, Yi-Hsuan Tsai, Blanca González-Farré, Aurea Mira, Ana Vivancos, Patricia Villagrasa, Joel S. Parker, Pierfranco Conte, Charles M. Perou, Institut Català de la Salut, [Prat A] Translational Genomics and Targeted Therapies in Solid Tumors, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain. Department of Medical Oncology, Hospital Clinic of Barcelona, Spain. SOLTI cooperative group, Barcelona, Spain. Department of Medicine, University of Barcelona, Barcelona, Spain. Institute of Oncology (IOB)-Hospital Quirónsalud, Barcelona, Spain. [Guarneri V] Department of Surgery, Oncology and Gastroenterology, University of Padova, Padova, Italy, Medical Oncology 2, Istituto Oncologico Veneto, IRCCS, Padova, Italy. [Pascual T] SOLTI cooperative group, Barcelona, Spain. [Brasó-Maristany F] Translational Genomics and Targeted Therapies in Solid Tumors, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain. [Sanfeliu E] Translational Genomics and Targeted Therapies in Solid Tumors, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain. Department of Pathology, Hospital Clinic de Barcelona, Barcelona, Spain. [Paré L] Reveal Genomics, Barcelona, Spain. [Cortés J] Institute of Oncology (IOB)-Quiron, Madrid, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Vivancos A] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Medicine (General), Mama - Càncer - Prognosi, Receptor, ErbB-2, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], Immunitat cel·lular, Breast cancer, Antineoplastic Combined Chemotherapy Protocols, HER2DX, Avaluació del risc per la salut, Adjuvant treatment of cancer, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Factors de risc en les malalties, General Medicine, Prognosis, Neoadjuvant Therapy, De-escalation, Cellular immunity, Therapeutics::Combined Modality Therapy::Neoadjuvant Therapy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Treatment Outcome, Chemotherapy, Adjuvant, Medicine, Female, Neoadjuvant, Tractament adjuvant del càncer, Pronòstic mèdic, Risk factors in diseases, Breast Neoplasms, Disease-Free Survival, Article, General Biochemistry, Genetics and Molecular Biology, Càncer de mama, Health risk assessment, R5-920, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Risk of relapse, HER2-positive breast cancer, Diagnosis::Prognosis::Treatment Outcome::Disease-Free Survival [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Gene expression, Immune, Pathological complete response, Trastuzumab, diagnóstico::pronóstico::resultado del tratamiento::supervivencia sin enfermedad [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Expressió gènica, Mama - Càncer - Tractament, Mama - Càncer - Aspectes genètics, terapéutica::tratamiento combinado::tratamiento neoadyuvante [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS]
Abstract

Gene expression; Breast cancer; Prognosis Expressió gènica; Càncer de mama; Pronòstic Expresión génica; Cáncer de mama; Pronóstico Background: Both clinical and genomic data independently predict survival and treatment response in early-stage HER2-positive breast cancer. Here we present the development and validation of a new HER2DX risk score, and a new HER2DX pathological complete response (pCR) score, both based on a 27-gene expression plus clinical feature-based classifier. Methods: HER2DX is a supervised learning algorithm incorporating tumour size, nodal staging, and 4 gene expression signatures tracking immune infiltration, tumour cell proliferation, luminal differentiation, and the expression of the HER2 amplicon, into a single score. 434 HER2-positive tumours from the Short-HER trial were used to train a prognostic risk model; 268 cases from an independent cohort were used to verify the accuracy of the HER2DX risk score. In addition, 116 cases treated with neoadjuvant anti-HER2-based chemotherapy were used to train a predictive model of pathological complete response (pCR); two independent cohorts of 91 and 67 cases were used to verify the accuracy of the HER2DX pCR likelihood score. Five publicly available independent datasets with >1,000 patients with early-stage HER2-positive disease were also analysed. Findings: In Short-HER, HER2DX variables were associated with good risk outcomes (i.e., immune, and luminal) and poor risk outcomes (i.e., proliferation, and tumour and nodal staging). In an independent cohort, continuous HER2DX risk score was significantly associated with disease-free survival (DFS) (p=0·002); the 5-year DFS in the low-risk group was 97·4% (94·4-100·0%). For the neoadjuvant pCR predictor training cohort, HER2DX variables were associated with pCR (i.e., immune, proliferation and HER2 amplicon) and non-pCR (i.e., luminal, and tumour and nodal staging). In both independent test set cohorts, continuous HER2DX pCR likelihood score was significantly associated with pCR (p

Published
2022

26. Risk Factors for COVID-19 in Inflammatory Bowel Disease: A National, ENEIDA-Based Case–Control Study (COVID-19-EII)

Author

Yamile, Zabana, Ignacio, Marín-Jiménez, Iago, Rodríguez-Lago, Isabel, Vera, María Dolores, Martín-Arranz, Iván, Guerra, Javier, P Gisbert, Francisco, Mesonero, Olga, Benítez, Carlos, Taxonera, Ángel, Ponferrada-Díaz, Marta, Piqueras, Alfredo, J Lucendo, Berta, Caballol, Míriam, Mañosa, Pilar, Martínez-Montiel, Maia, Bosca-Watts, Jordi, Gordillo, Luis, Bujanda, Noemí, Manceñido, Teresa, Martínez-Pérez, Alicia, López, Cristina, Rodríguez-Gutiérrez, Santiago, García-López, Pablo, Vega, Montserrat, Rivero, Luigi, Melcarne, María, Calvo, Marisa, Iborra, Manuel, Barreiro de Acosta, Beatriz, Sicilia, Jesús, Barrio, José Lázaro, Pérez Calle, David, Busquets, Isabel, Pérez-Martínez, Mercè, Navarro-Llavat, Vicent, Hernández, Federico, Argüelles-Arias, Fernando, Ramírez Esteso, Susana, Meijide, Laura, Ramos, Fernando, Gomollón, Fernando, Muñoz, Gerard, Suris, Jone, Ortiz de Zarate, José María, Huguet, Jordina, Llaó, Mariana Fe, García-Sepulcre, Mónica, Sierra, Miguel, Durà, Sandra, Estrecha, Ana, Fuentes Coronel, Esther, Hinojosa, Lorenzo, Olivan, Eva, Iglesias, Ana, Gutiérrez, Pilar, Varela, Núria, Rull, Pau, Gilabert, Alejandro, Hernández-Camba, Alicia, Brotons, Daniel, Ginard, Eva, Sesé, Daniel, Carpio, Montserrat, Aceituno, José Luis, Cabriada, Yago, González-Lama, Laura, Jiménez, María, Chaparro, Antonio, López-San Román, Cristina, Alba, Rocío, Plaza-Santos, Raquel, Mena, Sonsoles, Tamarit-Sebastián, Elena, Ricart, Margalida, Calafat, Sonsoles, Olivares, Pablo, Navarro, Federico, Bertoletti, Horacio, Alonso-Galán, Ramón, Pajares, Pablo, Olcina, Pamela, Manzano, Eugeni, Domènech, Maria, Esteve, On Behalf Of The Eneida Registry Of Geteccu, Universidad de Sevilla. Departamento de Medicina, Instituto de Salud Carlos III, FEDER (Fondo Europeo de Desarrollo Regional), [Zabana Y] Hospital Universitari Mútua Terrassa, Terrassa, Spain. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain. [Marín-Jiménez I] Hospital Gregorio Marañón, Madrid, Spain. [Rodríguez-Lago I] Gastroenterology Department, Hospital Universitario de Galdakao, Galdakao, Spain. Biocruces Bizkaia Health Research Institute, Galdakao, Spain. [Vera I] Hospital Universitario Puerta de Hierro, Majadahonda, Spain. [Martín-Arranz MD] Hospital Universitario La Paz, Madrid, Spain. [Guerra I] Hospital Universitario de Fuenlabrada, Fuenlabrada, Spain. Instituto de Investigación Hospital Universitario La Paz (IdiPaz), Madrid, Spain. [Piqueras M, Mena R] Servei de Digestologia, Hospital de Terrassa, Consorci Sanitari de Terrassa, Terrassa, Spain, and Consorci Sanitari de Terrassa

Subjects
COVID-19, SARS-CoV-2, inflammatory bowel disease, 5-aminosalicylates, immunosuppression, Immunosupressió, Factors de risc en les malalties, Risk factors in diseases, terapéutica::terapia biológica::inmunomodulación::inmunoterapia::inmunosupresión [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES], General Medicine, Inflammatory bowel diseases, COVID-19 (Malaltia), enfermedades del sistema digestivo::enfermedades gastrointestinales::enfermedades del sistema digestivo::enfermedades gastrointestinales::enfermedades intestinales::enfermedad inflamatoria intestinal [ENFERMEDADES], Therapeutics::Biological Therapy::Immunomodulation::Immunotherapy::Immunosuppression [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Inflammatory bowel disease, Malalties inflamatòries intestinals, virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES], Digestive System Diseases::Gastrointestinal Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Inflammatory Bowel Diseases [DISEASES], Intestins - Inflamació, Immunosuppression
Abstract

COVID-19; Immunosuppression; Inflammatory bowel disease COVID-19; Immunosupressió; Malaltia inflamatòria intestinal COVID-19; Inmunosupresión; Enfermedad inflamatoria intestinal (1) Scant information is available concerning the characteristics that may favour the acquisition of COVID-19 in patients with inflammatory bowel disease (IBD). Therefore, the aim of this study was to assess these differences between infected and noninfected patients with IBD. (2) This nationwide case−control study evaluated patients with inflammatory bowel disease with COVID-19 (cases) and without COVID-19 (controls) during the period March−July 2020 included in the ENEIDA of GETECCU. (3) A total of 496 cases and 964 controls from 73 Spanish centres were included. No differences were found in the basal characteristics between cases and controls. Cases had higher comorbidity Charlson scores (24% vs. 19%; p = 0.02) and occupational risk (28% vs. 10.5%; p < 0.0001) more frequently than did controls. Lockdown was the only protective measure against COVID-19 (50% vs. 70%; p < 0.0001). No differences were found in the use of systemic steroids, immunosuppressants or biologics between cases and controls. Cases were more often treated with 5-aminosalicylates (42% vs. 34%; p = 0.003). Having a moderate Charlson score (OR: 2.7; 95%CI: 1.3−5.9), occupational risk (OR: 2.9; 95%CI: 1.8−4.4) and the use of 5-aminosalicylates (OR: 1.7; 95%CI: 1.2−2.5) were factors for COVID-19. The strict lockdown was the only protective factor (OR: 0.1; 95%CI: 0.09−0.2). (4) Comorbidities and occupational exposure are the most relevant factors for COVID-19 in patients with IBD. The risk of COVID-19 seems not to be increased by immunosuppressants or biologics, with a potential effect of 5-aminosalicylates, which should be investigated further and interpreted with caution.

Published
2022

27. Nationwide COVID-19-EII Study: Incidence, Environmental Risk Factors and Long-Term Follow-Up of Patients with Inflammatory Bowel Disease and COVID-19 of the ENEIDA Registry

Author

Zabana Y, Marín-Jiménez I, Rodríguez-Lago I, Vera I, Martín-Arranz MD, Guerra I, Gisbert JP, Mesonero F, Benítez O, Taxonera C, Ponferrada-Díaz Á, Piqueras M, Lucendo AJ, Caballol B, Mañosa M, Martínez-Montiel P, Bosca-Watts M, Gordillo J, Bujanda L, Manceñido N, Martínez-Pérez T, López A, Rodríguez-Gutiérrez C, García-López S, Vega P, Rivero M, Melcarne L, Calvo M, Iborra M, Barreiro de-Acosta M, Sicilia B, Barrio J, Pérez JL, Busquets D, Pérez-Martínez I, Navarro-Llavat M, Hernández V, Argüelles-Arias F, Ramírez Esteso F, Meijide S, Ramos L, Gomollón F, Muñoz F, Suris G, de Zarate JO, Huguet JM, Llaó J, García-Sepulcre MF, Sierra M, Durà M, Estrecha S, Fuentes Coronel A, Hinojosa E, Olivan L, Iglesias E, Gutiérrez A, Varela P, Rull N, Gilabert P, Hernández-Camba A, Brotons A, Ginard D, Sesé E, Carpio D, Aceituno M, Cabriada JL, González-Lama Y, Jiménez L, Chaparro M, López-San Román A, Alba C, Plaza-Santos R, Mena R, Tamarit-Sebastián S, Ricart E, Calafat M, Olivares S, Navarro P, Bertoletti F, Alonso-Galán H, Pajares R, Olcina P, Manzano P, Domènech E, Esteve M, On Behalf Of The Eneida Registry Of Geteccu, [Zabana Y] Hospital Universitari Mútua Terrassa, Terrassa, Spain. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain. [Marín-Jiménez I] Hospital Gregorio Marañón, Madrid, Spain. [Rodríguez-Lago I] Gastroenterology Department, Hospital Universitario de Galdakao, Galdakao, Spain. Biocruces Bizkaia Health Research Institute, Galdakao, Spain. [Vera I] Hospital Universitario Puerta de Hierro, Majadahonda, Spain. [Martín-Arranz MD] Hospital Universitario La Paz, Madrid, Spain. [Guerra I] Hospital Universitario de Fuenlabrada, Fuenlabrada, Spain. Instituto de Investigación Hospital Universitario La Paz (IdiPaz), Madrid, Spain. [Piqueras M, Mena R] Servei de Digestologia, Hospital de Terrassa, Consorci Sanitari de Terrassa, Terrassa, Spain, Consorci Sanitari de Terrassa, and Universidad de Sevilla. Departamento de Medicina

Subjects
index, Pronòstic mèdic, Risk factors in diseases, COVID-19 (Malaltia), Article, Inflammatory bowel disease, Comorbiditat, inflammatory bowel disease, virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES], Epidemiology and Biostatistics::Epidemiology::Health-Disease Process::Comorbidity [PUBLIC HEALTH], Factors de risc en les malalties, SARS-CoV-2, COVID-19, determinants, Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES], General Medicine, Prognosis, enfermedades del sistema digestivo::enfermedades gastrointestinales::enfermedades del sistema digestivo::enfermedades gastrointestinales::enfermedades intestinales::enfermedad inflamatoria intestinal [ENFERMEDADES], infection, epidemiología y bioestadística::epidemiología::proceso salud-enfermedad::comorbilidad [SALUD PÚBLICA], Medicine, Digestive System Diseases::Gastrointestinal Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Inflammatory Bowel Diseases [DISEASES], Intestins - Inflamació
Abstract

We aim to describe the incidence and source of contagion of COVID-19 in patients with IBD, as well as the risk factors for a severe course and long-term sequelae. This is a prospective observational study of IBD and COVID-19 included in the ENEIDA registry (53,682 from 73 centres) between March-July 2020 followed-up for 12 months. Results were compared with data of the general population (National Centre of Epidemiology and Catalonia). A total of 482 patients with COVID-19 were identified. Twenty-eight percent were infected in the work environment, and 48% were infected by intrafamilial transmission, despite having good adherence to lockdown. Thirty-five percent required hospitalization, 7.9% had severe COVID-19 and 3.7% died. Similar data were reported in the general population (hospitalisation 19.5%, ICU 2.1% and mortality 4.6%). Factors related to death and severe COVID-19 were being aged >= 60 years (OR 7.1, 95% CI: 1.8-27 and 4.5, 95% CI: 1.3-15.9), while having >= 2 comorbidities increased mortality (OR 3.9, 95% CI: 1.3-11.6). None of the drugs for IBD were related to severe COVID-19. Immunosuppression was definitively stopped in 1% of patients at 12 months. The prognosis of COVID-19 in IBD, even in immunosuppressed patients, is similar to that in the general population. Thus, there is no need for more strict protection measures in IBD. This study is funded by the Carlos III Health Institute (COV20/00227: Co-IP Dra. Maria Esteve and Dra. Yamile Zabana), FEDER (Fondo Europeo de Desarrollo Regional) and supported by GETECCU. The ENEIDA Registry of GETECCU is supported by Takeda, Pfizer, Galapagos, AbbVie and Biogen.

Published
2022

28. Risk factors and cardiovascular disease in the elderly

Author

Díez Villanueva, Pablo, Jiménez-Méndez, César, Bonanad, Clara, García-Blas, Sergio, Pérez-Rivera, Ángel, Allo, Gonzalo, García-Pardo, Héctor, Formiga Pérez, Francesc, Camafort Blanco, Miquel, Martínez Sellés, Manuel, Ariza Solé, Albert, and Ayesta, Ana

Subjects
Aging, Diabetis, Malalties cardiovasculars, Factors de risc en les malalties, Risk factors in diseases, Calidad de vida, Enfermedad cardiovascular, Anciano, Diabetes, General Medicine, Cardiovascular diseases, Envelliment, Hypertension, Obesitat, Hipertensió, Obesity, Cardiology and Cardiovascular Medicine, Factores de riesgo
Abstract

Age is associated with increased cardiovascular risk factors and cardiovascular disease, which constitutes the leading cause of morbidity and mortality in elderly population. In this text we thoroughly review current evidence regarding the impact on cardiovascular disease of the most important cardiovascular risk factors, especially prevalent and common in the elderly population. Diagnosis and treatment approaches are also addressed, also highlighting the importance of adequate primary and secondary prevention and management. Also, the relationship between cardiovascular disease and some comorbidities and geriatric conditions, such as frailty, particularly common in the elderly, is reviewed, together with some other issues, less often addressed but closely related to ageing, such as genetics, structural and electrical heart changes and oxidative stress. All such questions are of great importance in the comprehensive approach of risk factors and cardiovascular disease in the elderly. Sin financiación 4.430 JCR (2021) Q2, 57/143 Cardiac & Cardiovascular Systems 0.590 SJR (2021) Q2, 158/356 Cardiology and Cardiovascular Medicine No data IDR 2021 UEM

Published
2022

29. Using Interpretable Machine Learning to Identify Baseline Predictive Factors of Remission and Drug Durability in Crohn's Disease Patients on Ustekinumab

Author

María Chaparro, Iria Baston-Rey, Estela Fernández Salgado, Javier González García, Laura Ramos, María Teresa Diz-Lois Palomares, Federico Argüelles-Arias, Eva Iglesias Flores, Mercedes Cabello, Saioa Rubio Iturria, Andrea Núñez Ortiz, Mara Charro, Daniel Ginard, Carmen Dueñas Sadornil, Olga Merino Ochoa, David Busquets, Eduardo Iyo, Ana Gutiérrez Casbas, Patricia Ramírez de la Piscina, Marta Maia Boscá-Watts, Maite Arroyo, María José García, Esther Hinojosa, Jordi Gordillo, Pilar Martínez Montiel, Benito Velayos Jiménez, Cristina Quílez Ivorra, Juan María Vázquez Morón, José María Huguet, Yago González-Lama, Ana Isabel Muñagorri Santos, Víctor Manuel Amo, María Dolores Martín Arranz, Fernando Bermejo, Jesús Martínez Cadilla, Cristina Rubín de Célix, Paola Fradejas Salazar, Antonio López San Román, Nuria Jiménez, Santiago García-López, Anna Figuerola, Itxaso Jiménez, Francisco José Martínez Cerezo, Carlos Taxonera, Pilar Varela, Ruth de Francisco, David Monfort, Gema Molina Arriero, Alejandro Hernández-Camba, Francisco Javier García Alonso, Manuel Van Domselaar, Ramón Pajares-Villarroya, Alejandro Núñez, Francisco Rodríguez Moranta, Ignacio Marín-Jiménez, Virginia Robles Alonso, María del Mar Martín Rodríguez, Patricia Camo-Monterde, Iván García Tercero, Mercedes Navarro-Llavat, Lara Arias García, Daniel Hervías Cruz, Sebastian Kloss, Alun Passey, Cynthia Novella, Eugenia Vispo, Manuel Barreiro-de Acosta, Javier P. Gisbert, Institut Català de la Salut, [Chaparro M] Hospital Universitario de La Princesa, Instituto de Investigación Sanitaria Princesa (IIS-IP), Universidad Autónoma de Madrid, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Madrid, Spain. [Baston-Rey I] Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain. [Fernández Salgado E] Complejo Hospitalario de Pontevedra, Pontevedra, Spain. [González García J] Hospital Público Comarcal la Inmaculada, Almería, Spain. [Ramos L] Hospital Universitario de Canarias, Tenerife, Spain. [Diz-Lois Palomares MT] Hospital Universitario A Coruña, A Coruña, Spain. [Robles Alonso V] Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
acciones y usos químicos::acciones farmacológicas::usos terapéuticos::antiinflamatorios [COMPUESTOS QUÍMICOS Y DROGAS], predictive factors, Factors de risc en les malalties, Risk factors in diseases, Crohn’s Disease, ustekinumab, Antiinflamatoris - Ús terapèutic, Digestive System Diseases::Gastrointestinal Diseases::Gastroenteritis::Inflammatory Bowel Diseases::Crohn Disease [DISEASES], Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Crohn's Disease, General Medicine, Other subheadings::Other subheadings::/drug therapy [Other subheadings], enfermedades del sistema digestivo::enfermedades gastrointestinales::gastroenteritis::enfermedad inflamatoria intestinal::enfermedad de Crohn [ENFERMEDADES], Crohn, Malaltia de - Tractament, Ciencias de la información::metodologías computacionales::algoritmos::inteligencia artificial::aprendizaje automático [CIENCIA DE LA INFORMACIÓN], Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Anti-Inflammatory Agents [CHEMICALS AND DRUGS], Malaltia de Crohn, Aprenentatge automàtic, Information Science::Computing Methodologies::Algorithms::Artificial Intelligence::Machine Learning [INFORMATION SCIENCE]
Abstract

Malaltia de Crohn; Factors predictius; Ustekinumab Enfermedad de Crohn; Factores predictivos; Ustekinumab Crohn’s disease; Predictive factors; Ustekinumab Ustekinumab has shown efficacy in Crohn’s Disease (CD) patients. To identify patient profiles of those who benefit the most from this treatment would help to position this drug in the therapeutic paradigm of CD and generate hypotheses for future trials. The objective of this analysis was to determine whether baseline patient characteristics are predictive of remission and the drug durability of ustekinumab, and whether its positioning with respect to prior use of biologics has a significant effect after correcting for disease severity and phenotype at baseline using interpretable machine learning. Patients’ data from SUSTAIN, a retrospective multicenter single-arm cohort study, were used. Disease phenotype, baseline laboratory data, and prior treatment characteristics were documented. Clinical remission was defined as the Harvey Bradshaw Index ≤ 4 and was tracked longitudinally. Drug durability was defined as the time until a patient discontinued treatment. A total of 439 participants from 60 centers were included and a total of 20 baseline covariates considered. Less exposure to previous biologics had a positive effect on remission, even after controlling for baseline disease severity using a non-linear, additive, multivariable model. Additionally, age, body mass index, and fecal calprotectin at baseline were found to be statistically significant as independent negative risk factors for both remission and drug survival, with further risk factors identified for remission. This work was supported by Janssen-Cilag Spain. This sponsor had a partial role in study design, analysis, and interpretation of data.

Published
2022

30. Lifestyle behavior interventions for preventing cancer in adults with inherited cancer syndromes: systematic review

Author

Celia Diez de los Rios de la Serna, Teresa Lluch-Canut, and M Paz Fernandez-Ortega

Subjects
Adult, Factors de risc en les malalties, Risk factors in diseases, Health, Toxicology and Mutagenesis, Health Behavior, Public Health, Environmental and Occupational Health, Diet, Neoplastic Syndromes, Hereditary, Malalties hereditàries, Humans, Càncer, Life Style, Exercise, Cancer, Genetic diseases
Abstract

(1) Background: The link between lifestyle behaviors and cancer risk is well established, which is important for people with personal/family history or genetic susceptibility. Genetic testing is not sufficient motivation to prompt healthier lifestyle behaviors. This systematic review aims to describe and assess interventions for promoting healthy behaviors in people at high risk of cancer. (2) Methods: The review was performed according to PRISMA guidelines using search terms related to hereditary cancer and health education to identify studies indexed in: CINAHL, MEDLINE, PubMed, Cochrane Library, Scopus, and Joanna Briggs, and published from January 2010 to July 2022. (3) Results: The search yielded 1558 initial records; four randomized controlled trials were eligible. Three included patients with and without a personal history of cancer who were at increased risk of cancer due to inherited cancer syndromes, and one included people undergoing genetic testing due to family history. Interventions targeted diet, physical activity, and alcohol. (4) Conclusions: There is a paucity of research on interventions for promoting healthy lifestyle behaviors in people with a high risk of cancer. Interventions produced positive short-term results, but there was no evidence that behavioral modifications were sustained over time. All healthcare professionals can actively promote healthy behaviors that may prevent cancer.

Published
2022

31. Metabolic polygenic risk scores effect on antipsychotic-induced metabolic dysregulation: A longitudinal study in a first episode psychosis cohort

Author

Segura, Alex G., Martínez Pinteño, Albert, Gassó Astorga, Patricia, Rodríguez Ferret, Natalia, Bioque Alcázar, Miquel, Cuesta, Manuel J., González Peñas, Javier, García Rizo, Clemente, Lobo, Antonio, González-Pinto, Ana, García Alcón, Alicia, Roldán, Alexandra, Vieta i Pascual, Eduard, 1963, Castro Fornieles, Josefina, Mané Santacana, Anna, Saiz Ruiz, Jerónimo, Bernardo Arroyo, Miquel, Mas Herrero, Sergi, Mezquida Mateos, Gisela, and PEPs Group

Subjects
Síndrome metabòlica, Trastorns del metabolisme, Factors de risc en les malalties, Risk factors in diseases, Psicosi, Psychoses, metabolic syndrome, Psychiatry and Mental health, Disorders of metabolism, Psychotic Disorders, Risk Factors, psychotic disorders, polygenic risk score, Schizophrenia, Humans, Antipsicòtics, Antipsychotic drugs, Longitudinal Studies, Biological Psychiatry, Antipsychotic Agents
Abstract

[EN] Objective: Metabolic syndrome is a health-threatening condition suffered by approximately one third of schizophrenia patients and largely attributed to antipsychotic medication. Previous evidence reports a common genetic background of psychotic and metabolic disorders. In this study, we aimed to assess the role of polygenic risk scores (PRSs) on the progression of the metabolic profile in a first-episode psychosis (FEP) cohort. Method: Of the 231 FEP individuals included in the study, 192-220 participants were included in basal analysis and 118-179 in longitudinal 6-month models. Eleven psychopathologic and metabolic PRSs were constructed. Basal and longitudinal PRSs association with metabolic measurements was assessed by statistical analyses.Results: No major association of psychopathological PRSs with the metabolic progression was found. However, high risk individuals for depression and cholesterol-related PRSs reported a higher increase of cholesterol levels during the follow-up (FDR

Published
2022

32. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Author

Niamh Mullins, JooEun Kang, Adrian I. Campos, Jonathan R.I. Coleman, Alexis C. Edwards, Hanga Galfalvy, Daniel F. Levey, Adriana Lori, Andrey Shabalin, Anna Starnawska, Mei-Hsin Su, Hunna J. Watson, Mark Adams, Swapnil Awasthi, Michael Gandal, Jonathan D. Hafferty, Akitoyo Hishimoto, Minsoo Kim, Satoshi Okazaki, Ikuo Otsuka, Stephan Ripke, Erin B. Ware, Andrew W. Bergen, Wade H. Berrettini, Martin Bohus, Harry Brandt, Xiao Chang, Wei J. Chen, Hsi-Chung Chen, Steven Crawford, Scott Crow, Emily DiBlasi, Philibert Duriez, Fernando Fernández-Aranda, Manfred M. Fichter, Steven Gallinger, Stephen J. Glatt, Philip Gorwood, Yiran Guo, Hakon Hakonarson, Katherine A. Halmi, Hai-Gwo Hwu, Sonia Jain, Stéphane Jamain, Susana Jiménez-Murcia, Craig Johnson, Allan S. Kaplan, Walter H. Kaye, Pamela K. Keel, James L. Kennedy, Kelly L. Klump, Dong Li, Shih-Cheng Liao, Klaus Lieb, Lisa Lilenfeld, Chih-Min Liu, Pierre J. Magistretti, Christian R. Marshall, James E. Mitchell, Eric T. Monson, Richard M. Myers, Dalila Pinto, Abigail Powers, Nicolas Ramoz, Stefan Roepke, Vsevolod Rozanov, Stephen W. Scherer, Christian Schmahl, Marcus Sokolowski, Michael Strober, Laura M. Thornton, Janet Treasure, Ming T. Tsuang, Stephanie H. Witt, D. Blake Woodside, Zeynep Yilmaz, Lea Zillich, Rolf Adolfsson, Ingrid Agartz, Tracy M. Air, Martin Alda, Lars Alfredsson, Ole A. Andreassen, Adebayo Anjorin, Vivek Appadurai, María Soler Artigas, Sandra Van der Auwera, M. Helena Azevedo, Nicholas Bass, Claiton H.D. Bau, Bernhard T. Baune, Frank Bellivier, Klaus Berger, Joanna M. Biernacka, Tim B. Bigdeli, Elisabeth B. Binder, Michael Boehnke, Marco P. Boks, Rosa Bosch, David L. Braff, Richard Bryant, Monika Budde, Enda M. Byrne, Wiepke Cahn, Miguel Casas, Enrique Castelao, Jorge A. Cervilla, Boris Chaumette, Sven Cichon, Aiden Corvin, Nicholas Craddock, David Craig, Franziska Degenhardt, Srdjan Djurovic, Howard J. Edenberg, Ayman H. Fanous, Jerome C. Foo, Andreas J. Forstner, Mark Frye, Janice M. Fullerton, Justine M. Gatt, Pablo V. Gejman, Ina Giegling, Hans J. Grabe, Melissa J. Green, Eugenio H. Grevet, Maria Grigoroiu-Serbanescu, Blanca Gutierrez, Jose Guzman-Parra, Steven P. Hamilton, Marian L. Hamshere, Annette Hartmann, Joanna Hauser, Stefanie Heilmann-Heimbach, Per Hoffmann, Marcus Ising, Ian Jones, Lisa A. Jones, Lina Jonsson, René S. Kahn, John R. Kelsoe, Kenneth S. Kendler, Stefan Kloiber, Karestan C. Koenen, Manolis Kogevinas, Bettina Konte, Marie-Odile Krebs, Mikael Landén, Jacob Lawrence, Marion Leboyer, Phil H. Lee, Douglas F. Levinson, Calwing Liao, Jolanta Lissowska, Susanne Lucae, Fermin Mayoral, Susan L. McElroy, Patrick McGrath, Peter McGuffin, Andrew McQuillin, Sarah E. Medland, Divya Mehta, Ingrid Melle, Yuri Milaneschi, Philip B. Mitchell, Esther Molina, Gunnar Morken, Preben Bo Mortensen, Bertram Müller-Myhsok, Caroline Nievergelt, Vishwajit Nimgaonkar, Markus M. Nöthen, Michael C. O’Donovan, Roel A. Ophoff, Michael J. Owen, Carlos Pato, Michele T. Pato, Brenda W.J.H. Penninx, Jonathan Pimm, Giorgio Pistis, James B. Potash, Robert A. Power, Martin Preisig, Digby Quested, Josep Antoni Ramos-Quiroga, Andreas Reif, Marta Ribasés, Vanesa Richarte, Marcella Rietschel, Margarita Rivera, Andrea Roberts, Gloria Roberts, Guy A. Rouleau, Diego L. Rovaris, Dan Rujescu, Cristina Sánchez-Mora, Alan R. Sanders, Peter R. Schofield, Thomas G. Schulze, Laura J. Scott, Alessandro Serretti, Jianxin Shi, Stanley I. Shyn, Lea Sirignano, Pamela Sklar, Olav B. Smeland, Jordan W. Smoller, Edmund J.S. Sonuga-Barke, Gianfranco Spalletta, John S. Strauss, Beata Świątkowska, Maciej Trzaskowski, Gustavo Turecki, Laura Vilar-Ribó, John B. Vincent, Henry Völzke, James T.R. Walters, Cynthia Shannon Weickert, Thomas W. Weickert, Myrna M. Weissman, Leanne M. Williams, Naomi R. Wray, Clement C. Zai, Allison E. Ashley-Koch, Jean C. Beckham, Elizabeth R. Hauser, Michael A. Hauser, Nathan A. Kimbrel, Jennifer H. Lindquist, Benjamin McMahon, David W. Oslin, Xuejun Qin, Esben Agerbo, Anders D. Børglum, Gerome Breen, Annette Erlangsen, Tõnu Esko, Joel Gelernter, David M. Hougaard, Ronald C. Kessler, Henry R. Kranzler, Qingqin S. Li, Nicholas G. Martin, Andrew M. McIntosh, Ole Mors, Merete Nordentoft, Catherine M. Olsen, David Porteous, Robert J. Ursano, Danuta Wasserman, Thomas Werge, David C. Whiteman, Cynthia M. Bulik, Hilary Coon, Ditte Demontis, Anna R. Docherty, Po-Hsiu Kuo, Cathryn M. Lewis, J. John Mann, Miguel E. Rentería, Daniel J. Smith, Eli A. Stahl, Murray B. Stein, Fabian Streit, Virginia Willour, Douglas M. Ruderfer, Manuel Mattheisen, Abdel Abdellaoui, Mark J. Adams, Till F.M. Andlauer, Silviu-Alin Bacanu, Marie Bækvad-Hansen, Aartjan T.F. Beekman, Julien Bryois, Henriette N. Buttenschøn, Jonas Bybjerg-Grauholm, Na Cai, Jane Hvarregaard Christensen, Toni-Kim Clarke, Lucía Colodro-Conde, Baptiste Couvy-Duchesne, Nick Craddock, Gregory E. Crawford, Gail Davies, Eske M. Derks, Nese Direk, Conor V. Dolan, Erin C. Dunn, Thalia C. Eley, Valentina Escott-Price, Farnush Farhadi Hassan Kiadeh, Hilary K. Finucane, Josef Frank, Héléna A. Gaspar, Michael Gill, Fernando S. Goes, Scott D. Gordon, Shantel Marie Weinsheimer, Jürgen Wellmann, Gonneke Willemsen, Yang Wu, Hualin S. Xi, Jian Yang, Futao Zhang, Volker Arolt, Dorret I. Boomsma, Udo Dannlowski, E.J.C. de Geus, J. Raymond Depaulo, Enrico Domenici, Katharina Domschke, Jakob Grove, Lynsey S. Hall, Christine Søholm Hansen, Thomas F. Hansen, Stefan Herms, Ian B. Hickie, Georg Homuth, Carsten Horn, Jouke-Jan Hottenga, David M. Howard, Rick Jansen, Eric Jorgenson, James A. Knowles, Isaac S. Kohane, Julia Kraft, Warren W. Kretzschmar, Zoltán Kutalik, Yihan Li, Penelope A. Lind, Donald J. MacIntyre, Dean F. MacKinnon, Robert M. Maier, Wolfgang Maier, Jonathan Marchini, Hamdi Mbarek, Christel M. Middeldorp, Evelin Mihailov, Lili Milani, Francis M. Mondimore, Grant W. Montgomery, Sara Mostafavi, Matthias Nauck, Bernard Ng, Michel G. Nivard, Dale R. Nyholt, Paul F. O’Reilly, Hogni Oskarsson, Caroline Hayward, Andrew C. Heath, Glyn Lewis, Pamela A.F. Madden, Patrik K. Magnusson, Andres Metspalu, Sara A. Paciga, Nancy L. Pedersen, Jodie N. Painter, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Roseann E. Peterson, Wouter J. Peyrot, Danielle Posthuma, Jorge A. Quiroz, Per Qvist, John P. Rice, Brien P. Riley, Saira Saeed Mirza, Robert Schoevers, Eva C. Schulte, Ling Shen, Engilbert Sigurdsson, Grant C.B. Sinnamon, Johannes H. Smit, Hreinn Stefansson, Stacy Steinberg, Jana Strohmaier, Katherine E. Tansey, Henning Teismann, Alexander Teumer, Wesley Thompson, Pippa A. Thomson, Thorgeir E. Thorgeirsson, Matthew Traylor, Jens Treutlein, Vassily Trubetskoy, André G. Uitterlinden, Daniel Umbricht, Albert M. van Hemert, Alexander Viktorin, Peter M. Visscher, Yunpeng Wang, Bradley T. Webb, Roy H. Perlis, David J. Porteous, Catherine Schaefer, Kari Stefansson, Henning Tiemeier, Rudolf Uher, Patrick F. Sullivan, Kevin S. O’Connell, Brandon Coombes, Zhen Qiao, Thomas D. Als, Sigrid Børte, Alexander W. Charney, Ole Kristian Drange, Michael J. Gandal, Saskia P. Hagenaars, Masashi Ikeda, Nolan Kamitaki, Kristi Krebs, Georgia Panagiotaropoulou, Brian M. Schilder, Laura G. Sloofman, Bendik S. Winsvold, Hong-Hee Won, Liliya Abramova, Kristina Adorjan, Mariam Al Eissa, Diego Albani, Ney Alliey-Rodriguez, Verneri Antilla, Anastasia Antoniou, Ji Hyun Baek, Michael Bauer, Eva C. Beins, Sarah E. Bergen, Armin Birner, Erlend Bøen, Murielle Brum, Ben M. Brumpton, Nathalie Brunkhorst-Kanaan, William Byerley, Murray Cairns, Miquel Casas, Pablo Cervantes, Cristiana Cruceanu, Alfredo Cuellar-Barboza, Julie Cunningham, David Curtis, Piotr M. Czerski, Anders M. Dale, Nina Dalkner, Friederike S. David, Amanda L. Dobbyn, Athanassios Douzenis, Torbjørn Elvsåshagen, I. Nicol Ferrier, Alessia Fiorentino, Tatiana M. Foroud, Liz Forty, Oleksandr Frei, Nelson B. Freimer, Louise Frisén, Katrin Gade, Julie Garnham, Ian R. Gizer, Katherine Gordon-Smith, Tiffany A. Greenwood, José Guzman-Parra, Kyooseob Ha, Magnus Haraldsson, Martin Hautzinger, Urs Heilbronner, Dennis Hellgren, Peter A. Holmans, Laura Huckins, Jessica S. Johnson, Janos L. Kalman, Yoichiro Kamatani, Sarah Kittel-Schneider, Maria Koromina, Thorsten M. Kranz, Michiaki Kubo, Ralph Kupka, Steven A. Kushner, Catharina Lavebratt, Markus Leber, Heon-Jeong Lee, Shawn E. Levy, Catrin Lewis, Martin Lundberg, Sigurdur H. Magnusson, Adam Maihofer, Dolores Malaspina, Eirini Maratou, Lina Martinsson, Nathaniel W. McGregor, James D. McKay, Helena Medeiros, Vincent Millischer, Jennifer L. Moran, Derek W. Morris, Thomas W. Mühleisen, Niamh O’Brien, Claire O’Donovan, Loes M. Olde Loohuis, Lilijana Oruc, Sergi Papiol, Antonio F. Pardiñas, Amy Perry, Andrea Pfennig, Evgenia Porichi, Towfique Raj, Mark H. Rapaport, J. Raymond DePaulo, Eline J. Regeer, Fabio Rivas, Julian Roth, Panos Roussos, Fanny Senner, Sally Sharp, Paul D. Shilling, Claire Slaney, Janet L. Sobell, Maria Soler Artigas, Anne T. Spijker, Dan J. Stein, Chikashi Terao, Claudio Toma, Paul Tooney, Evangelia-Eirini Tsermpini, Marquis P. Vawter, Helmut Vedder, Simon Xi, Wei Xu, Jessica Mei Kay Yang, Allan H. Young, Hannah Young, Peter P. Zandi, Hang Zhou, null HUNT All-In Psychiatry, Gulja Babadjanova, Lena Backlund, Susanne Bengesser, Douglas H.R. Blackwood, Vaughan J. Carr, Stanley Catts, Dimitris Dikeos, Bruno Etain, Panagiotis Ferentinos, Micha Gawlik, Elliot S. Gershon, Frans Henskens, Jan Hillert, Kyung Sue Hong, Christina M. Hultman, Kristian Hveem, Nakao Iwata, Assen V. Jablensky, George Kirov, Christine Lochner, Carmel Loughland, Carol A. Mathews, Francis J. McMahon, Patricia Michie, Bryan Mowry, Benjamin M. Neale, Caroline M. Nievergelt, Ketil J. Oedegaard, Tomas Olsson, Chris Pantelis, George P. Patrinos, Eva Z. Reininghaus, Takeo Saito, Ulrich Schall, Martin Schalling, Rodney J. Scott, Eystein Stordal, Arne E. Vaaler, Eduard Vieta, Irwin D. 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J., Wasserman, D., Coon, H., Demontis, D., Docherty, A. R., Kuo, P. -H., Mann, J. J., Renteria, M. E., Stein, M. B., Willour, V., Psychiatry, Biological Psychology, APH - Methodology, APH - Mental Health, APH - Health Behaviors & Chronic Diseases, AMS - Sports, AMS - Ageing & Vitality, APH - Personalized Medicine, Amsterdam Neuroscience - Complex Trait Genetics, Complex Trait Genetics, Institute for Molecular Medicine Finland, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, HUS Psychiatry, Department of Public Health, Clinicum, Nuorisopsykiatria, Faculty Common Matters (Faculty of Social Sciences), Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki, Anna Keski-Rahkonen / Principal Investigator, Elisabeth Ingrid Maria Widen / Principal Investigator, Genomic Discoveries and Clinical Translation, Internal medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Digital Health, Mullins N., Kang J., Campos A.I., Coleman J.R.I., Edwards 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Nyholt D.R., O'Reilly P.F., Oskarsson H., Hayward C., Heath A.C., Lewis G., Li Q.S., Madden P.A.F., Magnusson P.K., Martin N.G., McIntosh A.M., Metspalu A., Mors O., Nordentoft M., Paciga S.A., Pedersen N.L., Painter J.N., Pedersen C.B., Pedersen M.G., Peterson R.E., Peyrot W.J., Posthuma D., Quiroz J.A., Qvist P., Rice J.P., Riley B.P., Mirza S.S., Schoevers R., Schulte E.C., Shen L., Sigurdsson E., Sinnamon G.C.B., Smit J.H., Smith D.J., Stefansson H., Steinberg S., Streit F., Strohmaier J., Tansey K.E., Teismann H., Teumer A., Thompson W., Thomson P.A., Thorgeirsson T.E., Traylor M., Treutlein J., Trubetskoy V., Uitterlinden A.G., Umbricht D., der Auwera S.V., van Hemert A.M., Viktorin A., Visscher P.M., Wang Y., Webb B.T., Perlis R.H., Porteous D.J., Schaefer C., Stefansson K., Tiemeier H., Uher R., Werge T., Lewis C.M., Breen G., Borglum A.D., Sullivan P.F., O'Connell K.S., Coombes B., Qiao Z., Als T.D., Borte S., Charney A.W., Drange O.K., Gandal M.J., Hagenaars S.P., Ikeda M., Kamitaki N., Krebs K., Panagiotaropoulou G., Schilder B.M., Sloofman L.G., Winsvold B.S., Won H.-H., Abramova L., Adorjan K., Al Eissa M., Albani D., Alliey-Rodriguez N., Antilla V., Antoniou A., Baek J.H., Bauer M., Beins E.C., Bergen S.E., Birner A., Boen E., Brum M., Brumpton B.M., Brunkhorst-Kanaan N., Byerley W., Cairns M., Cervantes P., Cruceanu C., Cuellar-Barboza A., Cunningham J., Curtis D., Czerski P.M., Dale A.M., Dalkner N., David F.S., Dobbyn A.L., Douzenis A., Elvsashagen T., Ferrier I.N., Fiorentino A., Foroud T.M., Forty L., Frei O., Freimer N.B., Frisen L., Gade K., Garnham J., Gelernter J., Gizer I.R., Gordon-Smith K., Greenwood T.A., Ha K., Haraldsson M., Hautzinger M., Heilbronner U., Hellgren D., Holmans P.A., Huckins L., Johnson J.S., Kalman J.L., Kamatani Y., Kittel-Schneider S., Koromina M., Kranz T.M., Kranzler H.R., Kubo M., Kupka R., Kushner S.A., Lavebratt C., Leber M., Lee H.-J., Levy S.E., Lewis C., Lundberg M., Magnusson S.H., Maihofer A., Malaspina D., Maratou E., Martinsson L., McGregor N.W., McKay J.D., Medeiros H., Millischer V., Moran J.L., Morris D.W., Muhleisen T.W., O'Brien N., O'Donovan C., Olde Loohuis L.M., Oruc L., Papiol S., Pardinas A.F., Perry A., Pfennig A., Porichi E., Raj T., Rapaport M.H., Regeer E.J., Rivas F., Roth J., Roussos P., Ruderfer D.M., Senner F., Sharp S., Shilling P.D., Slaney C., Sobell J.L., Artigas M.S., Spijker A.T., Stein D.J., Terao C., Toma C., Tooney P., Tsermpini E.-E., Vawter M.P., Vedder H., Xi S., Xu W., Kay Yang J.M., Young A.H., Young H., Zandi P.P., Zhou H., HUNT All-In Psychiatry, Babadjanova G., Backlund L., Bengesser S., Blackwood D.H.R., Carr V.J., Catts S., Dikeos D., Etain B., Ferentinos P., Gawlik M., Gershon E.S., Henskens F., Hillert J., Hong K.S., Hultman C.M., Hveem K., Iwata N., Jablensky A.V., Kirov G., Lochner C., Loughland C., Mathews C.A., McMahon F.J., Michie P., Mowry B., Neale B.M., Nievergelt C.M., Oedegaard K.J., Olsson T., Pantelis C., Patrinos G.P., Reininghaus E.Z., Saito T., Schall U., Schalling M., Scott R.J., Weickert C.S., Stordal E., Vaaler A.E., Vieta E., Waldman I.D., Zwart J.-A., Nurnberger J.I., Stahl E.A., Di Florio A., Adan R.A.H., Ando T., Aschauer H., Baker J.H., Bencko V., Birgegard A., Boden J.M., Boehm I., Boni C., Perica V.B., Buehren K., Bulik C.M., Burghardt R., Carlberg L., Cassina M., Clementi M., Cone R.D., Courtet P., Crowley J.J., Danner U.N., Davis O.S.P., de Zwaan M., Dedoussis G., Degortes D., DeSocio J.E., Dick D.M., Dina C., Dmitrzak-Weglarz M., Martinez E.D., Duncan L.E., Egberts K., Mattingsdal M., McDevitt S., Meulenbelt I., Micali N., Mitchell J., Mitchell K., Monteleone P., Monteleone A.M., Munn-Chernoff M.A., Nacmias B., Navratilova M., Ntalla I., Olsen C.M., O'Toole J.K., Padyukov L., Palotie A., Pantel J., Papezova H., Parker R., Pearson J.F., Ehrlich S., Escaramis G., Espeseth T., Estivill X., Farmer A., Favaro A., Fischer K., Floyd J.A.B., Focker M., Foretova L., Forzan M., Franklin C.S., Gambaro G., Giuranna J., Giusti-Rodriquez P., Gonidakis F., Gordon S., Mayora M.G., Guillaume S., Hanscombe K.B., Hatzikotoulas K., Hebebrand J., Helder S.G., Henders A.K., Herpertz-Dahlmann B., Herzog W., Hinney A., Horwood L.J., Hubel C., Petersen L.V., Purves K.L., Raevuori A., Reichborn-Kjennerud T., Ricca V., Ripatti S., Ritschel F., Roberts M., Rybakowski F., Santonastaso P., Scherag A., Schmidt U., Schork N.J., Schosser A., Seitz J., Slachtova L., Slagboom P.E., Slof-Op 't Landt M.C.T., Slopien A., Soranzo N., Sorbi S., Southam L., Steen V.W., Huckins L.M., Hudson J.I., Imgart H., Inoko H., Janout V., Jordan J., Julia A., Kalsi G., Kaminska D., Kaprio J., Karhunen L., Karwautz A., Kas M.J.H., Kennedy M.A., Keski-Rahkonen A., Kiezebrink K., Kim Y.-R., Kirk K.M., Klareskog L., Knudsen G.P.S., Larsen J.T., Le Hellard S., Leppa V.M., Lichtenstein P., Lin B.D., Lundervold A., Luykx J., Maj M., Mannik K., Marsal S., Stuber G.D., Szatkiewicz J.P., Tachmazidou I., Tenconi E., Tortorella A., Tozzi F., Tsitsika A., Tyszkiewicz-Nwafor M., Tziouvas K., van Elburg A.A., van Furth E.F., Wade T.D., Wagner G., Walton E., Whiteman D.C., Wichmann H.E., Widen E., Yao S., Zeggini E., Zerwas S., Zipfel S., Jungkunz M., Dietl L., Schwarze C.E., Dahmen N., Schott B.H., Mobascher A., Crivelli S., Dennis M.F., Harvey P.D., Carter B.W., Huffman J.E., Jacobson D., Madduri R., Olsen M.K., Pestian J., Gaziano J.M., Muralidhar S., Ramoni R., Beckham J., Chang K.-M., O'Donnell C.J., Tsao P.S., Breeling J., Huang G., Romero J.P.C., Moser J., Whitbourne S.B., Brewer J.V., Aslan M., Connor T., Argyres D.P., Stephens B., Brophy M.T., Humphries D.E., Selva L.E., Do N., Shayan S., Cho K., Pyarajan S., Hauser E., Sun Y., Zhao H., Wilson P., McArdle R., Dellitalia L., Mattocks K., Harley J., Zablocki C.J., Whittle J., Jacono F., Gutierrez S., Gibson G., Hammer K., Kaminsky L., Villareal G., Kinlay S., Xu J., Hamner M., Mathew R., Bhushan S., Iruvanti P., Godschalk M., Ballas Z., Ivins D., Mastorides S., Moorman J., Gappy S., Klein J., Ratcliffe N., Florez H., Okusaga O., Murdoch M., Sriram P., Yeh S.S., Tandon N., Jhala D., Aguayo S., Cohen D., Sharma S., Liangpunsakul S., Oursler K.A., Whooley M., Ahuja S., Constans J., Meyer P., Greco J., Rauchman M., Servatius R., Gaddy M., Wallbom A., Morgan T., Stapley T., Sherman S., Ross G., Tsao P., Strollo P., Boyko E., Meyer L., Gupta S., Huq M., Fayad J., Hung A., Lichy J., Hurley R., Robey B., Striker R., Erlangsen A., Kessler R.C., Porteous D., Ursano R.J., Wasserman D., Coon H., Demontis D., Docherty A.R., Kuo P.-H., Mann J.J., Renteria M.E., Stein M.B., and Willour V.

Subjects
LD SCORE REGRESSION, Genome-wide association study, Suicide, Attempted, 3124 Neurology and psychiatry, 0302 clinical medicine, Risk Factors, Insomnia, Suicide attempt, GWAS, Suïcidi, Depression (differential diagnoses), Cause of death, Psychiatry, 0303 health sciences, Factors de risc en les malalties, Mental Disorders, Genetic Correlation, Genome-wide Association Study, Pleiotropy, Polygenicity, Suicide, Suicide Attempt, DEPRESSION, 3. Good health, Genetic correlation, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Depressive Disorder, Major, Mental illness, Cohort, SEX, medicine.symptom, Human, medicine.medical_specialty, Risk factors in diseases, BF, Locus (genetics), BEHAVIORS, Psykiatri, EVENTS, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, ddc:610, GENOME-WIDE ASSOCIATION, IDEATION, Socioeconomic status, METAANALYSIS, Biological Psychiatry, 030304 developmental biology, business.industry, Risk Factor, Genetic architecture, THOUGHTS, RC0321, business, Malalties mentals, 030217 neurology & neurosurgery
Abstract

Statistical analyses were carried out on the NL Genetic Cluster Computer (http://www.geneticcluster.org) hosted by SURFsara and the Mount Sinai high performance computing cluster (http://hpc.mssm.edu), which is supported by the Office of Research Infrastructure of the National Institutes of Health (Grant Nos. S10OD018522 and S10OD026880). This work was conducted in part using the resources of the Advanced Computing Center for Research and Education at Vanderbilt University, Nashville, TN. This work was funded by the National Institutes of Health (Grant Nos. R01MH116269 and R01MH121455 [to DMR]), NIGMS of the National Institutes of Health (Grant No. T32GM007347 [to JK]), and the Brain & Behavior Research Foundation (NARSAD Young Investigator Award No. 29551 [to NM])., BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders., Office of Research Infrastructure of the National Institutes of Health S10OD018522 S10OD026880, United States Department of Health & Human Services, National Institutes of Health (NIH) - USA R01MH116269 R01MH121455, NIH National Institute of General Medical Sciences (NIGMS) T32GM007347 NARSAD 29551

Published
2022

33. Gene–gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer

Author

Rosenberger, Albert, Muttray, Nils, Hung, Rayjean J., Christiani, David C., Caporaso, Neil E., Liu, Geoffrey, Bojesen, Stig E., Le Marchand, Loic, Albanes, Demetrius, Aldrich, Melinda C., Tardón, Adonina, Fernández Tardón, Guillermo, Rennert, Gad, Field, John K., Davies, Michael P. A., Liloglou, Triantafillos, Kiemeney, Lambertus A., Lazarus, Philip, Wendel, Bernadette, Haugen, Aage, Zienolddiny, Shanbeh, Lam, Stephen, Schabath, Matthew B., Andrew, Angeline S., Duell, Eric J., Arnold, Susanne M., Goodman, Gary E., Chen, Chu, Doherty, Jennifer A., Taylor, Fiona, Cox, Angela, Woll, Penella J., Risch, Angela, Muley, Thomas R., Johansson, Mikael, Brennan, Paul, Landi, Maria Teresa, Shete, Sanjay S., Amos, Christopher I., Bickeböller, Heike, and The INTEGRAL‑ILCCO Consortium

Subjects
Male, Lung Neoplasms, Genotype, Risk factors in diseases, Decision trees, Association, All institutes and research themes of the Radboud University Medical Center, Polygenic risk score, Basic Helix-Loop-Helix Transcription Factors, Humans, Genetic Predisposition to Disease, RNA, Neoplasm, Wnt Signaling Pathway, Medicinsk genetik, Cancer och onkologi, Small cell lung cancer, Factors de risc en les malalties, Research, Never smoker, General Medicine, respiratory system, Middle Aged, respiratory tract diseases, Gene Expression Regulation, Neoplastic, Genes, Receptors, Aryl Hydrocarbon, Susceptibility, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Cancer and Oncology, Gene–gene integration, Càncer de pulmó, Medicine, Female, Lung cancer, Prediction, Medical Genetics, Gens, Genome-Wide Association Study
Abstract

Projekt DEAL; National Institutes of Health [7U19CA203654-02/397 114564-5111078]; National Cancer Institute, National Institutes of Health [U01 CA063673, UM1 CA167462, R01 CA 111703, RO1 CA 151989, U01 CA167462]; Fred Hutchinson Cancer Research Center; NCI [5U01CA209414.]; Open Access Publication Funds of the Gottingen University, Rosenberger A, Muttray N, Hung RJ, Christiani DC, Caporaso NE, Liu G, Bojesen SE, Le Marchand L, Albanes D, Aldrich MC, Tardon A, Fernández-Tardón G, Rennert G, Field JK, Davies MPA, Liloglou T, Kiemeney LA, Lazarus P, Wendel B, Haugen A, Zienolddiny S, Lam S, Schabath MB, Andrew AS, Duell EJ, Arnold SM, Goodman GE, Chen C, Doherty JA, Taylor F, Cox A, Woll PJ, Risch A, Muley TR, Johansson M, Brennan P, Landi MT, Shete SS, Amos CI, Bickeböller H; INTEGRAL-ILCCO Consortium

Published
2022

34. Risk Factors Involved in the High Incidence of Bladder Cancer in an Industrialized Area in North-Eastern Spain: A Case–Control Study

Author

José M. Caballero, José M. Gili, Juan C. Pereira, Alba Gomáriz, Carlos Castillo, and Montserrat Martín-Baranera

Subjects
Analgesics, Factors de risc en les malalties, Risk factors in diseases, Bladder cancer, Smoking, occupational exposure, General Medicine, Occupational exposure, smoking, Càncer de bufeta, Hàbit de fumar, Analgèsics, Risk factors, Malalties professionals, Occupational diseases, analgesics, bladder cancer, risk factors
Abstract

Bladder cancer (BC) is the most common of the malignancies affecting the urinary tract. Smoking and exposure to occupational and environmental carcinogens are responsible for most cases. Vallès Occidental is a highly industrialized area in north-eastern Spain with one of the highest incidences of BC in men. We carried out a case–control study in order to identify the specific risk factors involved in this area. Three hundred and six participants were included (153 cases BC and 153 controls matched for age and sex): in each group, 89.5% (n = 137) were male and the mean age was 71 years (range 30–91; SD = 10.6). There were no differences between groups in family history, body mass index, or dietary habits. Independent risk factors for CV were smoking (OR 2.08; 95% CI 1.30–3.32; p = 0.002), the use of analgesics in nonsmokers (OR 10.00; 95% CI 1.28–78.12; p = 0.028), and profession (OR: 8.63; 95% CI 1.04–71.94; p = 0.046). The consumption of black and blond tobacco, the use of analgesics in nonsmokers, and occupational exposures are risk factors for the development of BC in this area, despite the reduction in smoking in the population and the extensive measures taken in the last few decades in major industries to prevent exposure to occupational carcinogens.

Published
2023

35. Identifying comorbidities and lifestyle factors contributing to the cognitive profile of early Parkinson’s disease

Author

Martínez-Horta, Saul, Bejr-Kasem, Helena, Horta-Barba, Andrea, Pascual-Sedano, Berta, Santos-García, Diego, de Deus-Fonticoba, Teresa, Jesús, Silvia, Aguilar, Miquel, Planellas, Lluis, García-Caldentey, Juan, Caballol, Nuria, Vives-Pastor, Bárbara, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, Maria Asunción, Catalán, Maria Jose, López-Díaz, Luis Manuel, Puente, Victor, García-Moreno, Jose Manuel, Borrué, Carmen, Solano-Vila, Berta, Álvarez-Sauco, Maria, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo-Padilla, Francisco, Martínez-Castrillo, Juan Carlos, Sánchez-Alonso, Pilar, Alonso-Losada, Maria Gema, López-Ariztegui, Nuria, Gastón, Itziar, Blázquez-Estrada, Marta, Seijo-Martínez, Manual, Rúiz-Martínez, Javier, Valero-Merino, Caridad, Kurtis, Monica, de Fábregues-Boixar, Oriol, González-Ardura, Jessica, Prieto-Jurczynska, Cristina, Martinez-Martin, Pablo, Mir, Pablo, Kulisevsky, Jaime, COPPADIS Study Group, Fundación Curemos el Parkinson, Curemos el Párkinson, Institut Català de la Salut, [Martínez-Horta S, Bejr-Kasem H, Horta-Barba A, Pascual-Sedano B] Movement Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Biomedical Research Institute Sant Pau (IIB-Sant Pau), Barcelona, Spain. Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. [Santos-García D] CHUAC, Complejo Hospitalario Universitario de A Coruña, A Coruña, Spain. [de Deus Fonticoba T] Complejo Hospitalario Universitario de Ferrol (CHUF), Ferrol, A Coruña, Spain. [Hernández Vara J, de Fábregues O ] Servei de Neurologia, Grup de Recerca en Malalties Neurodegeneratives, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Solano-Vila B] Hospital Universitari de Girona Doctor Josep Trueta, Institut Català de la Salut (ICS), Girona, Spain. Hospital Santa Caterina, Institut d’Assistència Sanitària (IAS), Salt, Spain, and Hospital Universitari de Girona Dr Josep Trueta

Subjects
Estils de vida, Cognition disorders, Risk factors in diseases, Parkinson's disease, Lifestyles, Coppadis, Neuropsychological Tests, Trastorns de la cognició, PD-MCI, Clinical trials, PD‑MCI, Cognition, enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::enfermedad de Parkinson [ENFERMEDADES], fenómenos psicológicos::procesos mentales::cognición [PSIQUIATRÍA Y PSICOLOGÍA], Malaltia de Parkinson, mental disorders, Humans, Cognitive Dysfunction, Parkinson, Malaltia de, Behavior and Behavior Mechanisms::Psychology, Social::Life Style [PSYCHIATRY AND PSYCHOLOGY], RC346-429, Life Style, conducta y mecanismos de la conducta::psicología social::estilo de vida [PSIQUIATRÍA Y PSICOLOGÍA], Factors de risc en les malalties, Research, Psychological Phenomena::Mental Processes::Cognition [PSYCHIATRY AND PSYCHOLOGY], Parkinson Disease, General Medicine, Nervous System Diseases::Nervous System Diseases::Nervous System Diseases::Neurodegenerative Diseases::Parkinson Disease [DISEASES], Lifestyle, nervous system diseases, Cognició, Parkinson’s disease, Dementia, Neurology. Diseases of the nervous system, Neurology (clinical), Assaigs clínics
Abstract

COPPADIS Study Group., [Background] Identifying modifiable risk factors for cognitive impairment in the early stages of Parkinson’s disease (PD) and estimating their impact on cognitive status may help prevent dementia (PDD) and the design of cognitive trials., [Methods] Using a standard approach for the assessment of global cognition in PD and controlling for the effects of age, education and disease duration, we explored the associations between cognitive status, comorbidities, metabolic variables and lifestyle variables in 533 PD participants from the COPPADIS study., [Results] Among the overall sample, 21% of participants were classified as PD-MCI (n = 114) and 4% as PDD (n = 26). The prevalence of hypertension, diabetes and dyslipidemia was significantly higher in cognitively impaired patients while no between-group differences were found for smoking, alcohol intake or use of supplementary vitamins. Better cognitive scores were significantly associated with regular physical exercise (p, [Conclusions] We extend previous findings regarding the positive and negative influence of various comorbidities and lifestyle factors on cognitive status in early PD patients, and reinforce the need to identify and treat potentially modifiable variables with the intention of exploring the possible improvement of the global cognitive status of patients with PD., Fundación Curemos el Parkinson (https://curemoselparkinson.org/) covered the expenses derived from hiring a CRO and from carrying out complementary tests.

Published
2021

36. Anti-Phosphatidylserine/Prothrombin Antibodies at Two Points: Correlation With Lupus Anticoagulant and Thrombotic Risk

Author

Natalia Egri, Chelsea Bentow, Laura Rubio, Gary L. Norman, Susana López-Sañudo, Michael Mahler, Albert Pérez-Isidro, Ricard Cervera, Odette Viñas, Gerard Espinosa, and Estíbaliz Ruiz-Ortiz

Subjects
Male, Time Factors, anti-phospholipid antibodies, Gastroenterology, Autoantigens, Morbid obesity, chemistry.chemical_compound, Pregnancy, Medicine, Lupus Erythematosus, Systemic, Thrombophilia, Immunology and Allergy, Trombosi, Phospholipids, Original Research, Lupus anticoagulant, biology, Factors de risc en les malalties, Phosphatidylserine, Middle Aged, Antiphospholipid Syndrome, Thrombosis, pregnancy morbidity, anti-phospholipid syndrome, beta 2-Glycoprotein I, Complications of pregnancy, Lupus Coagulation Inhibitor, Cohort, Antibodies, Antiphospholipid, Female, Prothrombin, Antibody, Adult, Risk, medicine.medical_specialty, Risk factors in diseases, Immunology, Obesitat mòrbida, Lupus, Phosphatidylserines, Autoimmune Diseases, Internal medicine, Humans, anti-phosphatidylserine/prothrombin antibodies, thrombosis, Retrospective Studies, Thrombotic risk, business.industry, Autoantibody, RC581-607, medicine.disease, Complicacions en l'embaràs, Pregnancy Complications, chemistry, Immunoglobulin M, Antibodies, Anticardiolipin, Immunoglobulin G, Anticoagulants (Medicina), biology.protein, Immunologic diseases. Allergy, Anticoagulants (Medicine), business, Biomarkers, Fosfolípids
Abstract

Patients with autoimmune diseases (ADs) are a challenge for the intensivist; it is hard to differentiate among infection, disease activity, and combinations of both, leading to high mortality. This study is a retrospective analysis of 124 critically ill patients admitted to the intensive care unit (ICU) in a university hospital between 2008 and 2016. Bivariate case-control analysis was performed, using patients who died as cases; later, analysis using a logistic regression model with variables that were associated with mortality was conducted. Four variables were consistently associated with mortality in the logistic regression model and had adequate prediction value (Hosmer and Lemeshow statistic = 0.760; Nagelkerke R-squared = 0.494). The risk of death was found to be statistically associated with the following: shock at admission to ICU [odds ratio (OR): 7.56; 95% confidence interval (CI): 1.78-31.97, p = 0.006], hemoglobin level

Published
2021
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37. Bisphenol-A exposure and risk of breast and prostate cancer in the Spanish European Prospective Investigation into Cancer and Nutrition study

Author

Sandra Colorado, María José Sánchez, Ana Jimenez, Antonio Agudo, Pilar Amiano, Elena Salamanca-Fernández, Marcela Guevara, Nicolás Olea, Fernando Vela, Josu Delfrade, Juan P. Arrebola, Miguel Rodríguez-Barranco, Maria Dolores Chirlaque, [Salamanca-Fernández,E, Rodríguez-Barranco,M, Sánchez,MJ] Andalusian School of Public Health (EASP), Campus Universitario de Cartuja, Granada, Spain. [Salamanca-Fernández,E, Arrebola,JP, Vela,F, Olea,N, Sánchez,MJ] Instituto de Investigación Biosanitaria ibs. GRANADA, Granada, Spain. [Rodríguez-Barranco,M, Amiano,P, Delfrade,J, Chirlaque,MD, Colorado,S, Guevara,M, Sánchez,MJ] CIBER de Epidemiología y Salud Pública (CIBERESP), Madrid, Spain. [Amiano,P, Jimenez,A] Public Health Division of Gipuzkoa, BioDonostia Research Institute, Donostia-San Sebastian, Spain. [Delfrade,J, Guevara,M] Navarra Public Health Institute, Pamplona, Spain. [Delfrade,J, Guevara,M] Navarra Institute for Health Research (IdiSNA), Pamplona, Spain. [Chirlaque,MD, Colorado,S] Department of Epidemiology, Murcia Regional Health Council, IMIB-Arrixaca, Murcia, Spain. [Chirlaque,MD] Department of Health and Sciences, University of Murcia, Murcia, Spain. [Colorado,S] Research Group on Demography and Health, National Faculty of Public Health, University of Antioquia, Medellín, Colombia. [Arrebola,JP, Sánchez,MJ] Department of Preventive Medicine and Public Health, University of Granada, Granada, Spain. [Olea,N] Department of Radiology, University of Granada, Granada, Spain. [Agudo,A] Unit of Nutrition and Cancer, Catalan Institute of Oncology - ICO, Nutrition and Cancer Group, Bellvitge Biomedical Research Institute - IDIBELL, L’Hospitalet de Llobregat, Barcelona, Spain., and This work was supported by the Ministry of economy and competitiveness and the National Institute of Health: Instituto de Salud Carlos III (ISCIII). Exps: PI14/00067, PI14/01716, PI14/01880, PI14/00556. BA15/00093. FFIS-CC 2016–06 AECC 'Junta provincial de Murcia'. FEDER and AECC 2015. Dr. J.P. Arrebola is under contract within Ramon y Cajal program (RYC-2016-20155, Ministerio de Economía, Industria y Competitividad, Spain). The EPIC-Spain cohort was supported by the Health Research Fund (FIS) - Instituto de Salud Carlos III (ISCIII), the Regional Governments of Andalucía, Asturias, Basque Country, Murcia and Navarra, and the Catalan Institute of Oncology - ICO (Spain).

Subjects
Oncology, Chemicals and Drugs::Chemical Actions and Uses::Toxic Actions::Environmental Pollutants [Medical Subject Headings], Male, Neoplasias de la próstata, Health, Toxicology and Mutagenesis, Endocrine Disruptors, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Cohort Studies, Prostate cancer, Breast cancer, Chemicals and Drugs::Organic Chemicals::Carboxylic Acids::Acids, Acyclic::Acrylates::Methacrylates::Bisphenol A-Glycidyl Methacrylate [Medical Subject Headings], Persons::Persons::Age Groups::Adult::Aged [Medical Subject Headings], education.field_of_study, Factors de risc en les malalties, Hazard ratio, Middle Aged, European Prospective Investigation into Cancer and Nutrition, Health Care::Environment and Public Health::Public Health::Environmental Pollution::Environmental Exposure [Medical Subject Headings], Environmental pollutants, Diseases::Male Urogenital Diseases::Urogenital Neoplasms::Genital Neoplasms, Male::Prostatic Neoplasms [Medical Subject Headings], Bisphenol a, Endocrine disruptor, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk [Medical Subject Headings], Neoplasias de la mama, Population study, Female, Public aspects of medicine, RA1-1270, Disruptores endocrinos, Adult, Risk, medicine.medical_specialty, endocrine system, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Prospective Studies [Medical Subject Headings], Risk factors in diseases, Population, Estudios de cohortes, Case-cohort, Check Tags::Male [Medical Subject Headings], Breast Neoplasms, Càncer de mama, Phenols, Bisfenol A glicidil metacrilato, Internal medicine, Chemicals and Drugs::Organic Chemicals::Hydrocarbons::Hydrocarbons, Cyclic::Hydrocarbons, Aromatic::Benzene Derivatives::Phenols [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Follow-Up Studies [Medical Subject Headings], medicine, Humans, Benzhydryl Compounds, education, Persons::Persons::Age Groups::Adult [Medical Subject Headings], Diseases::Neoplasms::Neoplasms by Site::Breast Neoplasms [Medical Subject Headings], Aged, Geographical Locations::Geographic Locations::Europe::Spain [Medical Subject Headings], Càncer de pròstata, Proportional hazards model, business.industry, urogenital system, Research, Public Health, Environmental and Occupational Health, Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Endocrine Disruptors [Medical Subject Headings], Prostatic Neoplasms, Persons::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], Chemicals and Drugs::Organic Chemicals::Hydrocarbons::Hydrocarbons, Cyclic::Hydrocarbons, Aromatic::Benzene Derivatives::Benzhydryl Compounds [Medical Subject Headings], Environmental Exposure, medicine.disease, Industrial medicine. Industrial hygiene, RC963-969, Check Tags::Female [Medical Subject Headings], Spain, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Sensitivity and Specificity::Limit of Detection [Medical Subject Headings], business, Contaminantes ambientales
Abstract

This work was supported by the Ministry of economy and competitiveness and the National Institute of Health: Instituto de Salud Carlos III (ISCIII). Exps: PI14/00067, PI14/01716, PI14/01880, PI14/00556. BA15/00093. FFIS-CC 2016-06 AECC "Junta provincial de Murcia". FEDER and AECC 2015. Dr. J.P. Arrebola is under contract within Ramon y Cajal program (RYC-2016-20155, Ministerio de Economia, Industria y Competitividad, Spain). The EPIC-Spain cohort was supported by the Health Research Fund (FIS) -Instituto de Salud Carlos III (ISCIII), the Regional Governments of Andalucia, Asturias, Basque Country, Murcia and Navarra, and the Catalan Institute of Oncology -ICO (Spain)., Background Bisphenol A (BPA) is an endocrine disruptor that it is present in numerous products of daily use. The aim of this study was to assess the potential association of serum BPA concentrations and the risk of incident breast and prostate cancer in a sub-cohort of the Spanish European Prospective Investigation into Cancer and Nutrition (EPIC). Methods We designed a case-cohort study within the EPIC-Spain cohort. Study population consisted on 4812 participants from 4 EPIC-Spain centers (547 breast cancer cases, 575 prostate cancer cases and 3690 sub-cohort participants). BPA exposure was assessed by means of chemical analyses of serum samples collected at recruitment. Borgan II weighted Cox regression was used to estimate hazard ratios. Results Median follow-up time in our study was 16.9 years. BPA geometric mean serum values of cases and sub-cohort were 1.12 ng/ml vs 1.10 ng/ml respectively for breast cancer and 1.33 ng/ml vs 1.29 ng/ml respectively for prostate cancer. When categorizing BPA into tertiles, a 40% increase in risk of prostate cancer for tertile 1 (p = 0.022), 37% increase for tertile 2 (p = 0.034) and 31% increase for tertile 3 (p = 0.072) was observed with respect to values bellow the limit of detection. No significant association was observed between BPA levels and breast cancer risk. Conclusions We found a similar percentage of detection of BPA among cases and sub-cohort from our population, and no association with breast cancer risk was observed. However, we found a higher risk of prostate cancer for the increase in serum BPA levels. Further investigation is needed to understand the influence of BPA in prostate cancer risk., Ministry of economy and competitiveness, National Institute of Health: Instituto de Salud Carlos III (ISCIII), AECC "Junta provincial de Murcia" PI14/00067- PI14/01716- PI14/01880- PI14/00556- BA15/00093- FFIS-CC 2016-06, Spanish Government RYC-2016-20155, Health Research Fund (FIS) -Instituto de Salud Carlos III (ISCIII), Regional Governments of Andalucia, Asturias, Basque Country, Murcia and Navarra, Catalan Institute of Oncology -ICO (Spain)

Published
2021

38. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Author

Guy Rosner, Walter Hernán Pavicic, Claudia Perne, Carlos A. Vaccaro, Elke Holinski-Feder, Leticia Moreira, Wouter H. de Vos tot Nederveen Cappel, Stefan Aretz, Einar Andreas Rødland, Polly A. Newcomb, Karin Alvarez, Ariadna Sánchez, Lone Sunde, Wolff Schmiegel, Joan Brunet, Marc S. Greenblatt, Christina Therkildsen, Karl Heinimann, Lior H. Katz, Fiona Lalloo, Jürgen Weitz, Anna Lepistö, Rolf H. Sijmons, Maartje Nielsen, Hans F. A. Vasen, Deepak Vangala, Monika Morak, Jukka-Pekka Mecklin, Toni T. Seppälä, Sigve Nakken, Stefanie Holzapfel, Douglas Tjandra, Finlay A. Macrae, Päivi Peltomäki, Daniel D. Buchanan, Stephen N. Thibodeau, Adriana Della Valle, James Hill, Annika Lindblom, Bernardo Bonanni, Reinhard Büttner, Francisco López-Köstner, Giulia Martina Cavestro, John Burn, Emma J Crosbie, Lucio Bertario, Sanne W. ten Broeke, D. G. R. Evans, Kate Green, Verena Steinke-Lange, Eivind Hovig, Miquel Serra-Burriel, Francesc Balaguer, Kirsi Pylvänäinen, Gabriela Möslein, Revital Kariv, Thomas Hansen, Maria Grazia Tibiletti, Tamara Alejandra Piñero, Nils Rahner, Magnus von Knebel Doeberitz, Ingrid Winship, Nathan Gluck, Lars Joachim Lindberg, Christoph Engel, Mev Dominguez-Valentin, John-Paul Plazzer, Julian R. Sampson, Marta Pineda, John L. Hopper, Pablo Kalfayan, Heike Görgens, Aung Ko Win, Steven Gallinger, Loic Le Marchand, Mark A. Jenkins, Markus Loeffler, Noralane M. Lindor, Inge Bernstein, Pål Møller, Laura Renkonen-Sinisalo, Florencia Neffa, Huw Thomas, Gabriel Capellá, Jane C. Figueiredo, Miriam Mints, Patricia Esperon, Matilde Navarro, Robert Hüneburg, Guided Treatment in Optimal Selected Cancer Patients (GUTS), HUS Abdominal Center, Department of Surgery, Genome-Scale Biology (GSB) Research Program, II kirurgian klinikka, ATG - Applied Tumor Genomics, Research Programs Unit, Clinicum, Department of Medical and Clinical Genetics, Dominguez-Valentin, M., Plazzer, J. -P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M. V. K., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E. J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sanchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Pinero, T. A., Pavicic, W. H., Kalfayan, P., Ten Broeke, S. W., Mecklin, J. -P., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomaki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, T. V. O., Lindberg, L., Rodland, E. A., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Seppala, T. T., and Moller, P.

Subjects
cancer incidence, 0302 clinical medicine, Malalties hereditàries, Missense mutation, 8Q23.3, Càncer, Cancer, Genetics, 0303 health sciences, medicine.diagnostic_test, Factors de risc en les malalties, MISMATCH REPAIR GENES, MLH1, General Medicine, Penetrance, Lynch syndrome, 3. Good health, syöpägeenit, 030220 oncology & carcinogenesis, Medicine, syöpätaudit, ilmaantuvuus, Genetic diseases, congenital, hereditary, and neonatal diseases and abnormalities, missense, 11Q23.1, Risk factors in diseases, CANCER-RISK, Article, aberrant splicing, 03 medical and health sciences, AGE, medicine, Genetic predisposition, ddc:610, MSH2, Lynchin oireyhtymä, penetrance, 030304 developmental biology, Genetic testing, truncating, perinnölliset taudit, business.industry, MUTATIONS, HMSH2, nutritional and metabolic diseases, medicine.disease, digestive system diseases, 3121 General medicine, internal medicine and other clinical medicine, business
Abstract

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.

Published
2021

39. Family history of first degree as a risk factor for colorectal cancer

Author

Pilar Amiano, Rocío Olmedo-Requena, Guillermo Fernández-Tardón, María Dolores-Chirlaque, María Rubín-García, Facundo Vitelli-Storelli, Yolanda Benavente, José Juan Jiménez-Moleón, Juan Alguacil, Marcela Guevara, Vicente Martín, Jéssica Alonso-Molero, Eva Ardanaz, Marina Pollán, Nuria Aragonés, Beatriz Pérez-Gómez, Laura Álvarez-Álvarez, Ana Molina-Barceló, Victor Moreno, Tania Fernández-Villa, Trinidad Dierssen-Sotos, Universidad de Cantabria, Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red - CIBERESP (Epidemiología y Salud Pública), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Fundación Marqués de Valdecilla, International Cancer Genome Consortium, Ministerio de Economía y Competitividad (España), Red Temática de Investigación Cooperativa en Cáncer (España), Junta de Castilla y León (España), Regional Government of Andalusia (España), Generalitat Valenciana (España), Fundación La Caixa, Basque Government (España), Gobierno de la Región de Murcia (España), Unión Europea. Comisión Europea, Asociación Española Contra el Cáncer, Government of Catalonia (España), Fundación Caja de Ahorros de Asturias, University of Oviedo (España), Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España), Ministerio de Educación (España), and Agency for Administration of University and Research

Subjects
Factor de riesgo, Risk factors in diseases, Factor de riesgo Casos y controles, Family history, Risk Factors, Càncer colorectal, Odds Ratio, Malalties hereditàries, Humans, Family, Cáncer colorrectal, Casos y controles, Factors de risc en les malalties, Public Health, Environmental and Occupational Health, Antecedentes familiares, MCC-Spain, Middle Aged, Colorectal cancer, 3212 Salud Publica, Case and control, Spain, Risk factor, Colorectal Neoplasms, Genetic diseases
Abstract

La autora principal (garante responsable del manuscrito) afirma que este manuscrito es un reporte honesto, preciso y transparente del estudio que se remite a Gaceta Sanitaria, que no se han omitido aspectos importantes del estudio, y que las discrepancias del estudio según lo previsto (y, si son relevantes, registradas) se han explicado., A la Dra. Gemma Castaño Vinyals y al Dr. Manolis Kogevinas por su colaboración en el proyecto., Objetivo: El objetivo de este estudio es evaluar la asociación entre antecedentes familiares (AF) de primer grado y cáncer colorrectal (CCR). Método: Se incluyeron 2857 controles y 1360 casos de CCR, del estudio MCC-Spain. La odds ratio (OR) y el intervalo de confianza del 95% (IC95%) de los AF de primer grado y el CCR se estimaron mediante regresión logística no condicional según la localización tumoral en los casos. Resultados: Los AF de primer grado duplicaron el riesgo de CCR (OR: 2,19;IC95%: 1,80-2,66), incrementándose en aquellos que presentaban dos o más (OR: 4,22; IC95%: 2,29-7,78) y en aquellos cuyos familiares fueron diagnosticados antes de los 50 anos ˜ (OR: 3,24; IC95%: 1,52-6,91). Presentar AF se relacionó con estilos de vida como un menor consumo de vegetales. En cuanto a la asociación de los AF con la localización no se observaron diferencias significativas entre colon y recto, pero sí en la relación de estas con la edad de diagnóstico, presentando más AF los diagnosticados antes de los 50 anos ˜ (OR: 4,79; IC95%: 2,65-8,65). Conclusiones: Presentar AF de primer grado de CCR aumenta las probabilidades de desarrollar este cáncer, y también se elevan cuando el familiar es diagnosticado a edad temprana. Por ello, debe ser una población diana sobre la que incrementar las medidas de prevención., Objective: To evaluate the association between first-degree family history and colorectal cancer (CRC). Method: We analyzed data from 2857 controls and 1360 CRC cases, collected in the MCC-Spain project. The adjusted odds ratio (OR) and 95% confidence interval (95% CI) of association with the family history of CRC was estimated by non-conditional logistic regression. Results: First-degree relatives doubled the risk of CRC (OR: 2.19; 95% CI: 1.80–2.66), increasing in those with two or more (OR: 4.22; 95% CI: 2.29–7.78) and in those whose relatives were diagnosed before 50 years (OR: 3.24; 95% CI: 1.52–6.91). Regarding the association of the family history with the location, no significant differences were observed between colon and rectum, but there were in the relation of these with the age of diagnosis, having more relatives those diagnosed before 50 years (OR: 4.79; 95% CI: 2.65–8.65). Conclusions: First-degree relatives of CRC increase the chances of developing this tumor,they also increase when the relative is diagnosed at an early age. Therefore, it must be a target population on which to carry out prevention measures., El estudio fue parcialmente financiado por la «Acción Transversal del Cáncer», aprobada por el Consejo del Ministerio de España el 11 de octubre de 2007, por el Instituto de Salud Carlos III-FEDER (PI08 / 1770, PI08 / 0533, PI08 / 1359, PS09 / 00773-Cantabria, PS09 / 01286-León, PS09 / 01903-Valencia, PS09 / 02078-Huelva, PS09 / 01662-Granada, PI11 / 01403, PI11 / 01889-FEDER, PI11 / 00226, PI11 / 01810, PI11 / 02213, PI12 / 00488, PI12 / 00265, PI12 / 01270, PI12 / 00715, PI12 / 00150, PI14 / 01219, PI14 / 0613, PI15 / 00069, PI15 / 00914, PI15 / 01032, PI17CIII / 00034), así como a través de CIBERESP CB06/02/0073, cofinanciado por el Fondo Europeo de Desarrollo Regional (FEDER). También cuenta con el apoyo de la Fundación Marqués de Valdecilla (API 10/09), el ICGC International Cancer Genome Consortium CLL (el proyecto ICGC CLL-Genome Project está financiado por el Ministerio de Economía y Competitividad española través del Instituto de Salud Carlos III y la Red Temática de Investigación del Cáncer del Instituto de Salud Carlos III [RD12 / 0036/0036]), la Junta de Castilla y León (LE22A10-2), la Consejería de Salud de la Junta de Andalucía (PI-0571-2009, PI-0306-2011, salud201200057018tra), la Conselleria de Sanitat de la Generalitat Valenciana (AP 061/10), RecerCaixa (2010ACUP 00310), el Gobierno Regional del País Vasco, la Consejería de Sanidad de la Región de Murcia, la Comisión Europea de subvenciones FOOD-CT-2006-036224-HIWATE, la Fundación Científica de la Asociación Española Contra el Cáncer (AECC), la Generalitat de Catalunya - Agencia de Gestión Universitaria e Investigación Becas (AGAUR) y 2017SGR01085. Becas 2017SGR723 y 2014SGR850 de la Fundación Caja de Ahorros de Asturias y de la Universidad de Oviedo. ISGlobal agradece el apoyo del Ministerio de Ciencia e Innovación de España través del Programa Centro de Excelencia Severo Ochoa 2019-2023 (CEX2018-000806-S), y el apoyo de la Generalitat de Catalunya a través del Programa CERCA. M. Rubín-García cuenta con el apoyo del Ministerio de Educación de España (FPU17/06488).

Published
2021

40. Factores de riesgo asociados a los intentos de suicidio en un servicio de urgencias psiquiátricas de una zona rural

Author

Casanova-Garrigós, Georgina, López Pablo, Carlos, Reverté Villarroya, Silvia, Moreno Poyato, Antonio Rafael, Gil Mateu, Elsa, and Montesó Curto, Pilar

Subjects
Suicide, Factors de risc en les malalties, Risk factors in diseases, Psychiatric emergencies, Observació (Mètode científic), Urgències en psiquiatria, Observation (Scientific method), Suïcidi
Abstract

CONTEXTO: El suicidio es considerado un problema de salud pública debido a su alcance y magnitud. OBJETIVOS: Determinar las variables sociodemográficas y clínicas asociadas a los intentos de suicidio entre la población atendida en un servicio de urgencias de un hospital psiquiátrico, y comparar las consultas por un intento de suicidio con las consultas por otros motivos. METODOLOGÍA: Estudio observacional de corte retrospectivo realizado en un servicio de urgencia psiquiátricas en el que se estudiaron los datos de 498 personas que habían acudido por un intento de suicido y 502 que habían acudido por otros motivos de consulta, durante un periodo de 7 años. RESULTADOS: En el grupo de pacientes con un intento de suicidio había un porcentaje más alto de mujeres, con una media de edad ligeramente mayor que el otro grupo, estaban casadas, de nacionalidad española, con el diagnóstico de trastorno del humor y los trastornos por abuso de sustancias como los más predominantes, con un menor porcentaje de ingresos psiquiátricos previos, sin antecedentes familiares de enfermedad mental y sin síntomas psicóticos. CONCLUSIONES: Teniendo en cuenta la estructura y funcionamiento de los servicios de salud mental de la zona y la particularidad del entorno, subrayamos la necesidad de tener en cuenta los presentes resultados tanto para la atención directa como para el diseño de estrategias de prevención específicas.

Published
2021

41. Association of Structural Magnetic Resonance Imaging Measures With Psychosis Onset in Individuals at Clinical High Risk for Developing Psychosis:An ENIGMA Working Group Mega-analysis

Author

Daniela Hubl, Hidenori Yamasue, Jan Ivar Røssberg, Christina Wenneberg, Cali F. Bartholomeusz, Tina Dam Kristensen, Paolo Fusar-Poli, Peter Bachman, Jessica A. Turner, Naoyuki Katagiri, Daiki Sasabayashi, Stefan Borgwardt, Dorte Nordholm, Michael W. L. Chee, Daniel H. Mathalon, Mathew A. Harris, Alison R. Yung, Sophia Vinogradov, Maria Jalbrzikowski, Mikkel E. Sørensen, Jayachandra Mitta Raghava, Franz Resch, Bjørn H Ebdrup, Therese van Amelsvoort, Paul M. Thompson, Rachel Loewy, Anastasia Theodoridou, Christine I. Hooker, Christian K. Tamnes, Rebecca Cooper, Masafumi Mizuno, Shinsuke Koike, Cheryl M. Corcoran, Maria A. Omelchenko, Florian Schlagenhauf, Michio Suzuki, Dennis Hernaus, Kang Ik K. Cho, Jordina Tor, Irina Lebedeva, Alex Koppel, Jinsong Tang, Lukasz Smigielski, Ole A. Andreassen, Lieuwe de Haan, Dean F. Salisbury, Birte Glenthøj, Yoo Bin Kwak, Tor Gunnar Værnes, Peter J. Uhlhaas, Adriana Fortea, Rebecca A. Hayes, Brian J. Roach, Lars T. Westlye, Inmaculada Baeza, Esther Via, Louise Birkedal Glenthøj, Patrick D. McGorry, Ingrid Agartz, Kimberley Atkinson, Kristen M. Haut, Mallory J Klaunig, Tsutomu Takahashi, Helen Baldwin, Chantal Michel, Gisela Sugranyes, Romina Mizrahi, James A. Waltz, Juan Zhou, Francisco Reyes-Madrigal, Jason Schiffman, Liu Yuan, G. Paul Amminger, Camilo de la Fuente-Sandoval, Theo G.M. van Erp, Jose C. Pariente, Dennis Velakoulis, Merete Nordentoft, Karsten Heekeren, Ying He, Minah Kim, Jochen Kindler, Ulrich Schall, Montserrat Dolz, Sabrina Catalano, Michael Kaess, Tomas Moncada-Habib, Wenche ten Velden Hegelstad, Wu Jeong Hwang, Jun Soo Kwon, Daniel Muñoz-Samons, André Schmidt, Holly K. Hamilton, Tiziano Colibazzi, Stephen J. Wood, Philip McGuire, Lijun Ouyang, Ashleigh Lin, Paul E. Rasser, Kiyoto Kasai, Wulf Rössler, Alexander Tomyshev, Vanessa Cropley, Shalaila S. Haas, Xiaoqian Ma, Pablo León-Ortiz, Ketil Oppedal, Paul Møller, Xiaogang Chen, Barnaby Nelson, Gloria D. Venegoni, Paul Allen, Christos Pantelis, Imke Lemmers-Jansen, Jimmy Chee Keong Lee, Takahiro Nemoto, Stephen M. Lawrie, Andreas Heinz, Clinical Developmental Psychology, APH - Mental Health, Cognitive Psychology, Adult Psychiatry, ANS - Complex Trait Genetics, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, Lee Kong Chian School of Medicine (LKCMedicine), Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, and MUMC+: MA Med Staf Spec Psychiatrie (9)

Subjects
Male, Psychotic Disorders/diagnostic imaging, PREFRONTAL CORTEX, 0302 clinical medicine, VOLUME REDUCTION, FUSIFORM GYRUS, Prefrontal cortex, FUNCTIONAL OUTCOMES, Child, Original Investigation, Psychiatry, Cerebral Cortex, medicine.diagnostic_test, Factors de risc en les malalties, Age Factors, Factors d'edat en les malalties, Magnetic Resonance Imaging, Psychiatry and Mental health, General [Science], medicine.anatomical_structure, Schizophrenia, NEUROANATOMICAL ABNORMALITIES, Disease Progression, Female, Disease Susceptibility, ULTRA-HIGH-RISK, Adult, Risk, Psychosis, medicine.medical_specialty, Adolescent, Risk factors in diseases, Cerebral Cortex/diagnostic imaging, Psicosi, Age factors in disease, Prodromal Symptoms, Neuroimaging, 03 medical and health sciences, Young Adult, Structural Magnetic Resonance Imaging, Imatges per ressonància magnètica, Internal medicine, CEREBRAL-CORTEX, medicine, Humans, Anterior cingulate cortex, Fusiform gyrus, business.industry, Psychoses, Magnetic resonance imaging, GRAY-MATTER, Psychosis Risk, medicine.disease, 030227 psychiatry, Clinical research, Psychotic Disorders, ANTERIOR CINGULATE CORTEX, Case-Control Studies, business, CORTICAL THICKNESS, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

IMPORTANCE The ENIGMA clinical high risk (CHR) for psychosis initiative, the largest pooled neuroimaging sample of individuals at CHR to date, aims to discover robust neurobiological markers of psychosis risk.OBJECTIVE To investigate baseline structural neuroimaging differences between individuals at CHR and healthy controls as well as between participants at CHR who later developed a psychotic disorder (CHR-PS+) and those who did not (CHR-PS-).DESIGN, SETTING, AND PARTICIPANTS In this case-control study, baseline T1-weighted magnetic resonance imaging (MRI) data were pooled from 31 international sites participating in the ENIGMA Clinical High Risk for Psychosis Working Group. CHR status was assessed using the Comprehensive Assessment of At-Risk Mental States or Structured Interview for Prodromal Syndromes. MRI scans were processed using harmonized protocols and analyzed within a mega-analysis and meta-analysis framework from January to October 2020.MAIN OUTCOMES AND MEASURES Measures of regional cortical thickness (CT), surface area, and subcortical volumes were extracted from T1-weighted MRI scans. Independent variables were group (CHR group vs control group) and conversion status (CHR-PS+ group vs CHR-PS- group vs control group).RESULTS Of the 3169 included participants, 1428 (45.1%) were female, and the mean (SD; range) age was 21.1 (4.9; 9.5-39.9) years. This study included 1792 individuals at CHR and 1377 healthy controls. Using longitudinal clinical information, 253 in the CHR-PS+ group, 1234 in the CHR-PS- group, and 305 at CHR without follow-up data were identified. Compared with healthy controls, individuals at CHR exhibited widespread lower CT measures (mean [range] Cohen d = -0.13 [-0.17 to -0.09]), but not surface area or subcortical volume. Lower CT measures in the fusiform, superior temporal, and paracentral regions were associated with psychosis conversion (mean Cohen d = -0.22; 95% CI, -0.35 to 0.10). Among healthy controls, compared with those in the CHR-PS+ group, age showed a stronger negative association with left fusiform CT measures (F = 9.8; P < .001; q < .001) and left paracentral CT measures (F = 5.9; P = .005; q = .02). Effect sizes representing lower CT associated with psychosis conversion resembled patterns of CT differences observed in ENIGMA studies of schizophrenia (rho = 0.35; 95% CI, 0.12 to 0.55; P = .004) and individuals with 22q11.2 microdeletion syndrome and a psychotic disorder diagnosis (rho = 0.43; 95% CI, 0.20 to 0.61; P = .001).CONCLUSIONS AND RELEVANCE This study provides evidence for widespread subtle, lower CT measures in individuals at CHR. The pattern of CT measure differences in those in the CHR-PS+ group was similar to those reported in other large-scale investigations of psychosis. Additionally, a subset of these regions displayed abnormal age associations. Widespread disruptions in CT coupled with abnormal age associations in those at CHR may point to disruptions in postnatal brain developmental processes.Question How are brain morphometric features associated with later psychosis conversion in individuals at clinical high risk (CHR) for developing psychosis?Findings In this case-control study including 3169 participants, lower cortical thickness, but not cortical surface area or subcortical volume, was more pronounced in individuals at CHR in a manner highly consistent with thinner cortex in individuals with established psychosis. Regions that displayed lower cortical thickness in individuals at CHR who later developed a psychotic disorder additionally displayed abnormal associations with age.Meaning In this study, CHR status and later transition to psychosis was robustly associated with lower cortical thickness; abnormal age associations and specificity to cortical thickness may point to aberrant postnatal brain development in individuals at CHR, including pruning and myelination.This case-control study investigates baseline structural magnetic resonance imaging (MRI) differences between individuals at clinical high risk and healthy controls as well as between participants at clinical high risk who later developed a psychotic disorder and those who did not.

Published
2021

42. Non-targeted metabolomic biomarkers and metabotypes of type 2 diabetes: A cross-sectional study of PREDIMED trial participants

Author

Alex Sánchez-Pla, Jordi Salas-Salvadó, Rafael Llorach, Dolores Corella, Ramon Estruch, Cristina Andres-Lacueva, Rosa Vázquez-Fresno, Francesc Carmona, Enrique Almanza-Aguilera, José V. Sorlí, and Mireia Urpi-Sarda

Subjects
Male, 0301 basic medicine, Oncology, Non targeted, endocrine system diseases, Cross-sectional study, Endocrinology, Diabetes and Metabolism, Type 2 diabetes, Diet, Mediterranean, Logistic regression, Diabetis no-insulinodependent, Endocrinology, Risk Factors, Non-insulin-dependent diabetes, Dietoteràpia, education.field_of_study, Factors de risc en les malalties, Biochemical markers, General Medicine, Middle Aged, Metabolisme, Metabolòmica, Cardiovascular Diseases, Marcadors bioquímics, Metabolome, Female, medicine.medical_specialty, Risk factors in diseases, Population, Urinalysis, 03 medical and health sciences, Medicina preventiva, Metabolomics, Internal medicine, Internal Medicine, medicine, Humans, education, Aged, Preventive medicine, Receiver operating characteristic, business.industry, Diet therapy, nutritional and metabolic diseases, medicine.disease, Predimed, Metabolism, Cross-Sectional Studies, 030104 developmental biology, Diabetes Mellitus, Type 2, business, human activities, Biomarkers, Diabetic Angiopathies
Abstract

Aim. - To characterize the urinary metabolomic fingerprint and multi-metabolite signature associated with type 2 diabetes (T2D), and to classify the population into metabotypes related to T2D. Methods. - A metabolomics analysis using the 1 H-NMR-based, non-targeted metabolomic approach was conducted to determine the urinary metabolomic fingerprint of T2D compared with non-T2D participants in the PREDIMED trial. The discriminant metabolite fingerprint was subjected to logistic regression analysis and ROC analyses to establish and to assess the multi-metabolite signature of T2D prevalence, respectively. Metabotypes associated with T2D were identified using the k-means algorithm. Results. - A total of 33 metabolites were significantly different (P < 0.05) between T2D and non-T2D participants. The multi-metabolite signature of T2D comprised high levels of methylsuccinate, alanine, dimethylglycine and guanidoacetate, and reduced levels of glutamine, methylguanidine, 3-hydroxymandelate and hippurate, and had a 96.4% AUC, which was higher than the metabolites on their own and glucose. Amino-acid and carbohydrate metabolism were the main metabolic alterations in T2D, and various metabotypes were identified in the studied population. Among T2D participants, those with a metabotype of higher levels of phenylalanine, phenylacetylglutamine, p-cresol and acetoacetate had significantly higher levels of plasma glucose. Conclusion. - The multi-metabolite signature of T2D highlights the altered metabolic fingerprint associated mainly with amino-acid, carbohydrate and microbiota metabolism. Metabotypes identified in this patient population could be related to higher risk of long-term cardiovascular events and therefore require further studies. Metabolomics is a useful tool for elucidating the metabolic complexity and interindividual variation in T2D towards the development of stratified precision nutrition and medicine

Published
2019

43. Serum alkaline phosphatase relates to cardiovascular risk markers in children with high calcium-phosphorus product

Author

Lourdes Ibáñez, Abel López-Bermejo, Anna Prats-Puig, Núria Espuña-Capote, Judit Bassols, Francis de Zegher, Mercè Montesinos-Costa, Silvia Xargay-Torrent, Gemma Carreras-Badosa, and Ferran Diaz-Roldan

Subjects
0301 basic medicine, Serum, medicine.medical_specialty, Waist, Risk factors in diseases, Cross-sectional study, lcsh:Medicine, 030204 cardiovascular system & hematology, Gastroenterology, Carotid Intima-Media Thickness, Risk Assessment, Article, 03 medical and health sciences, 0302 clinical medicine, Insulin resistance, Internal medicine, medicine, Humans, Child, lcsh:Science, Multidisciplinary, Malalties cardiovasculars, Factors de risc en les malalties, business.industry, Confounding, lcsh:R, Malalties dels infants, Phosphorus, medicine.disease, Alkaline Phosphatase, Atherosclerosis, Children's diseases, Cardiovascular diseases, 030104 developmental biology, Blood pressure, Cross-Sectional Studies, Homeostatic model assessment, Alkaline phosphatase, High calcium, Calcium, lcsh:Q, business, Blood Chemical Analysis
Abstract

Although alkaline phosphatase (ALP) correlates with cardiovascular risk in adults, there are no studies in children. We evaluated the association between serum ALP levels, calcium-phosphorus product (Ca*P) and cardiovascular risk markers in healthy children. Children aged 7.9 ± 1.4 (n = 379) were recruited in this cross-sectional study. The main outcome measures were systolic and diastolic blood pressure (SBP and DBP) and carotid intima-media thickness (cIMT). Additional assessments were body-mass index (BMI), waist circumference, homeostatic model assessment of insulin resistance (HOMA-IR) and fasting lipids, ALP, serum calcium, phosphorus and Ca*P. ALP was directly correlated with BMI (p p p p = 0.005), HOMA-IR (p p = 0.0001). Among them, in children with Ca*P values above the median the associations were BMI (r = 0.231; p = 0.001), waist (r = 0.252; p p p p p = 0.013) in children with higher Ca*P, after adjusting for confounding variables. Circulating ALP is associated with a more adverse cardiovascular profile in children with higher Ca*P. We suggest that serum ALP and Ca*P levels could contribute to the assessment of risk for cardiovascular disease in children.

Published
2018

44. A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants

Author

Dagmara Dymerska, Grzegorz Kurzawski, Gabriel Capellá, Katherine A. Bolton, Hans F. A. Vasen, Juul T. Wijnen, Rodney J. Scott, Shantie Jagmohan-Changur, Tiffany-Jane Evans, Bente A. Talseth-Palmer, Jan Lubinski, Mariann Unhjem Wiik, Sami Belhadj, and Laura Valle

Subjects
Male, 0301 basic medicine, 0302 clinical medicine, Genotype, Malalties hereditàries, Càncer, Cancer genetics, Telomerase, Cancer, Aged, 80 and over, Genetics, Multidisciplinary, Factors de risc en les malalties, RNA-Directed DNA Polymerase, Middle Aged, Lynch syndrome, MutS Homolog 2 Protein, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 5, Medicine, Female, Colorectal Neoplasms, Genetic diseases, Adult, Adolescent, Risk factors in diseases, Science, MLH1, Polymorphism, Single Nucleotide, Article, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Allele, Aged, business.industry, Odds ratio, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, 030104 developmental biology, MSH2, business
Abstract

Individuals with Lynch syndrome (LS), have an increased risk of developing cancer. Common genetic variants of telomerase reverse transcriptase (TERT) have been associated with a wide range of cancers, including colorectal cancer (CRC) in LS. We combined genotype data from 1881 LS patients, carrying pathogenic variants in MLH1, MSH2 or MSH6, for rs2075786 (G>A, intronic variant), 1207 LS patients for rs2736108 (C>T, upstream variant) and 1201 LS patients for rs7705526 (C>A, intronic variant). The risk of cancer was estimated by heterozygous/homozygous odds ratio (OR) with mixed-effects logistic regression to adjust for gene/gender/country of sample origin considering family identity. The AA genotype of SNP rs2075786 is associated with 85% higher odds at developing cancer compared to GG genotype in MSH2 pathogenic variant carriers (p = 0.0160). Kaplan–Meier analysis also shows an association for rs2075786; the AA allele for MSH2 variant carriers confers risk for earlier diagnosis of LS cancer (log-rank p = 0.0011). We report a polymorphism in TERT to be a possible modifier of disease risk in MSH2 pathogenic variant carriers. The rs2075786 SNP in TERT is associated with a differential risk of developing cancer for MSH2 pathogenic variant carriers. Use of this information has the potential to personalise screening protocols for LS patients.

Published
2021

45. Nongenetic Determinants of Risk for Early-Onset Colorectal Cancer

Author

Michael O. Woods, Marc J. Gunter, Andrew T. Chan, Richard B. Hayes, Yi Lin, Steven Gallinger, Robert S. Sandler, D. Timothy Bishop, Martha L. Slattery, Peter S. Liang, Mengmeng Du, Temitope O. Keku, Mark A. Jenkins, Stephen B. Gruber, Gad Rennert, Tabitha A. Harrison, Alexi N. Archambault, Michael Hoffmeister, Ulrike Peters, Mingyang Song, Neil Murphy, Rish K. Pai, Graham Casey, Li Hsu, Peter T. Campbell, Aung Ko Win, Hermann Brenner, Jihyoun Jeon, Patrick S. Parfrey, Lori C. Sakoda, Victor Moreno, Loic Le Marchand, Li Li, Yu-Ru Su, Jenny Chang-Claude, Anne Zeleniuch-Jacquotte, Jane C. Figueiredo, and Polly A. Newcomb

Subjects
Dietary Fiber, Cancer Research, Colorectal cancer, 0302 clinical medicine, Risk Factors, Epidemiology, Odds Ratio, Age of Onset, Early Detection of Cancer, education.field_of_study, Factors de risc en les malalties, Incidence, Incidence (epidemiology), Anti-Inflammatory Agents, Non-Steroidal, Middle Aged, Alcoholism, Oncology, Occult Blood, 030220 oncology & carcinogenesis, Colonic Neoplasms, Red meat, Educational Status, 030211 gastroenterology & hepatology, Colorectal Neoplasms, AcademicSubjects/MED00010, Adult, medicine.medical_specialty, Meat, Risk factors in diseases, Population, Article, Drug/alcohol abstinence, 03 medical and health sciences, Càncer colorectal, Internal medicine, Confidence Intervals, medicine, Animals, Humans, education, Aged, Rectal Neoplasms, business.industry, Ecological study, Odds ratio, medicine.disease, Logistic Models, Solicited Editorial, Case-Control Studies, Cattle, business
Abstract

Background Incidence of early-onset (younger than 50 years of age) colorectal cancer (CRC) is increasing in many countries. Thus, elucidating the role of traditional CRC risk factors in early-onset CRC is a high priority. We sought to determine whether risk factors associated with late-onset CRC were also linked to early-onset CRC and whether association patterns differed by anatomic subsite. Methods Using data pooled from 13 population-based studies, we studied 3767 CRC cases and 4049 controls aged younger than 50 years and 23 437 CRC cases and 35 311 controls aged 50 years and older. Using multivariable and multinomial logistic regression, we estimated odds ratios (ORs) and 95% confidence intervals (CIs) to assess the association between risk factors and early-onset CRC and by anatomic subsite. Results Early-onset CRC was associated with not regularly using nonsteroidal anti-inflammatory drugs (OR = 1.43, 95% CI = 1.21 to 1.68), greater red meat intake (OR = 1.10, 95% CI = 1.04 to 1.16), lower educational attainment (OR = 1.10, 95% CI = 1.04 to 1.16), alcohol abstinence (OR = 1.23, 95% CI = 1.08 to 1.39), and heavier alcohol use (OR = 1.25, 95% CI = 1.04 to 1.50). No factors exhibited a greater excess in early-onset compared with late-onset CRC. Evaluating risks by anatomic subsite, we found that lower total fiber intake was linked more strongly to rectal (OR = 1.30, 95% CI = 1.14 to 1.48) than colon cancer (OR = 1.14, 95% CI = 1.02 to 1.27; P = .04). Conclusion In this large study, we identified several nongenetic risk factors associated with early-onset CRC, providing a basis for targeted identification of those most at risk, which is imperative in mitigating the rising burden of this disease.

Published
2021

46. MRN Complex and Cancer Risk: Old Bottles, New Wine

Author

Barbara Rivera, Islam E. Elkholi, and William D. Foulkes

Subjects
Cancer Research, Population, Breast Neoplasms, Cell Cycle Proteins, Diseases--Risk factors, Bioinformatics, Risk Assessment, Germline mutation, Breast cancer, Medicine, Humans, education, education.field_of_study, MRE11 Homologue Protein, business.industry, Factors de risc en les malalties, Cancer, Proteins, Nuclear Proteins, medicine.disease, Acid Anhydride Hydrolases, DNA-Binding Proteins, MRE11A, Oncology, MRN complex, Rad50, Mutation, Female, business, Proteïnes, Nijmegen breakage syndrome
Abstract

The MRN complex, composed of MRE11A, RAD50, and NBN, mediates vital molecular functions to maintain genomic stability and hence protect against related disorders. Germline mutations in the MRN genes predispose to three different syndromes: ataxia-telangiectasia-like disorder (MRE11A deficiency), Nijmegen breakage syndrome (NBS; NBN deficiency), and NBS-like disorder (RAD50 deficiency). The potential cancer component of these syndromes in addition to the close physical and functional proximity of the MRN complex to BRCA1 has promoted the MRN genes as candidate risk genes for developing breast cancer. This notion has been challenged by independent large-scale population-based studies. Despite having their two-decade old candidacy as breast cancer genes close to being refuted, it has recently been reported that the MRN genes rise to have potential new roles in clonal hematopoiesis. In this article, we discuss the history and current status of MRN genes' clinical utility in breast cancer and then focus on their recently uncovered and less understood roles in clonal hematopoiesis that likely predispose to health-related disorders such as hematologic malignancies and/or cardiovascular morbid events.

Published
2021

47. Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Author

Julia Newton-Bishop, Montserrat Molgó, Julio C. Salas-Alanis, David E. Elder, Alejandra Larre-Borges, Johan Hansson, Blanca Carlos-Ortega, Lu Qian, Graham J. Mann, Veronica Höiom, Helen Schmid, John Charles A. Lacson, Luis Alberto Ribeiro Froes, Shawn A. Zamani, Nandita Mitra, Anne E. Cust, Karin Wadt, Scarlet H. Doyle, D. Timothy Bishop, Francisco Cuellar, Nelleke A. Gruis, Barbara Perić, Thaís Corsetti Grazziotin, Anne-Marie Gerdes, Claudia Balestrini, Håkan Olsson, Paola Ghiorzo, Esther Azizi, Christian Ingvar, Jacoba J. Out-Luiting, Marko Hočevar, Susana Puig, Elizabeth A. Holland, Dace Pjanova, Luciana Facure Moredo, Gilles Landman, Peter A. Kanetsky, William Bruno, Froes, Luis Alberto Ribeiro [0000-0002-1140-3046], Kanetsky, Peter A [0000-0002-5567-9618], and Apollo - University of Cambridge Repository

Subjects
Risk-taking (Psychology), medicine.medical_specialty, Radiació solar, Family medicine, Skin Neoplasms, Sunbed, Risk factors in diseases, Sun exposure, Population, Sunburn, High-risk families, Melanoma, Skin Cancer, Sun-related behaviors, Sunscreen use, Trends, Humans, Retrospective Studies, Sunscreening Agents, Odds, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Conducta de risc (Psicologia), Epidemiology, medicine, Solar radiation, Skin cancer, 030212 general & internal medicine, education, skin and connective tissue diseases, Càncer de pell, education.field_of_study, business.industry, Factors de risc en les malalties, Public health, Public Health, Environmental and Occupational Health, Retrospective cohort study, medicine.disease, Medicina familiar, Biostatistics, Public aspects of medicine, RA1-1270, business, Research Article, Demography
Abstract

Funder: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; doi: http://dx.doi.org/10.13039/501100002322, Funder: Radiumhemmets Forskningsfonder; doi: http://dx.doi.org/10.13039/501100007232, Funder: Swedish Cancer Society, Funder: Lunds Universitet Paulsson Trust, Funder: CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Funder: European Regional Development Fund; doi: http://dx.doi.org/10.13039/501100008530, Funder: Diagnoptics, Funder: CERCA Programme Generalitat de Catalunya, Funder: Esther Koplowitz Center, Barcelona, Spain, Funder: Comision Honoraria de Lucha Contra el Cancer, CSIC, Fundacion Manuel Perez, Montevideo, Uruguay, BACKGROUND: Individuals from melanoma-prone families have similar or reduced sun-protective behaviors compared to the general population. Studies on trends in sun-related behaviors have been temporally and geographically limited. METHODS: Individuals from an international consortium of melanoma-prone families (GenoMEL) were retrospectively asked about sunscreen use, sun exposure (time spent outside), sunburns, and sunbed use at several timepoints over their lifetime. Generalized linear mixed models were used to examine the association between these outcomes and birth cohort defined by decade spans, after adjusting for covariates. RESULTS: A total of 2407 participants from 547 families across 17 centers were analyzed. Sunscreen use increased across subsequent birth cohorts, and although the likelihood of sunburns increased until the 1950s birth cohort, it decreased thereafter. Average sun exposure did not change across the birth cohorts, and the likelihood of sunbed use increased in more recent birth cohorts. We generally did not find any differences in sun-related behavior when comparing melanoma cases to non-cases. Melanoma cases had increased sunscreen use, decreased sun exposure, and decreased odds of sunburn and sunbed use after melanoma diagnosis compared to before diagnosis. CONCLUSIONS: Although sunscreen use has increased and the likelihood of sunburns has decreased in more recent birth cohorts, individuals in melanoma-prone families have not reduced their overall sun exposure and had an increased likelihood of sunbed use in more recent birth cohorts. These observations demonstrate partial improvements in melanoma prevention and suggest that additional intervention strategies may be needed to achieve optimal sun-protective behavior in melanoma-prone families.

Published
2021

48. ESGO/ESTRO/ESP Guidelines for the management of patients with endometrial carcinoma

Author

Tjalling Bosse, David Cibula, Xavier Matias-Guiu, Anneke M. Westermann, Philippe Morice, Remi A. Nout, Christian Marth, Domenica Lorusso, Mansoor Raza Mirza, Jalid Sehouli, Alexandra Taylor, Antonio González-Martín, Pauline Wimberger, François Planchamp, Maria Rosaria Raspollini, Simone Marnitz, Jonathan A. Ledermann, Sigurd Lax, Denis Querleu, Christina Fotopoulou, Cyrus Chargari, Nicole Concin, Carien L. Creutzberg, Anna Fagotti, Alina Sturdza, Nicoletta Colombo, Dearbhaile E. O’Donnell, Ignace Vergote, Oncology, CCA -Cancer Center Amsterdam, Concin, N, Matias-Guiu, X, Vergote, I, Cibula, D, Mirza, M, Marnitz, S, Ledermann, J, Bosse, T, Chargari, C, Fagotti, A, Fotopoulou, C, Gonzalez Martin, A, Lax, S, Lorusso, D, Marth, C, Morice, P, Nout, R, O'Donnell, D, Querleu, D, Raspollini, M, Sehouli, J, Sturdza, A, Taylor, A, Westermann, A, Wimberger, P, Colombo, N, Planchamp, F, Creutzberg, C, and Radiotherapy

Subjects
0301 basic medicine, Staging, Palliative treatment, Endometrium--Cancer, Biopsy, Diseases--Risk factors, Medical Oncology, 030218 nuclear medicine & medical imaging, Scientific evidence, DEEP MYOMETRIAL INVASION, surgery, Risk groups, 0302 clinical medicine, Endometrial cancer, Multidisciplinary approach, Risk Factors, MINIMALLY-INVASIVE SURGERY, Fertility preservation, Evidence-Based Medicine, 030219 obstetrics & reproductive medicine, Factors de risc en les malalties, FERTILITY-PRESERVING TREATMENT, Gynaecological oncology, Consensus conference, Obstetrics and Gynecology, Obstetrics & Gynecology, General Medicine, Hematology, Patologia, Management, Europe, Treatment Outcome, Molecular Diagnostic Techniques, Oncology, LYMPH-NODE BIOPSY, 030220 oncology & carcinogenesis, Female, Life Sciences & Biomedicine, medicine.medical_specialty, RATE INTERSTITIAL BRACHYTHERAPY, PHASE-II EVALUATION, Consensus, Genital Neoplasms, Female, Planificació sanitària, Guidelines as Topic, Endometrial carcinoma, Guidelines, Risk Assessment, uterine cancer, Pathology and Forensic Medicine, 03 medical and health sciences, Predictive Value of Tests, Uterine cancer, Preoperative Care, Biomarkers, Tumor, Recurrent disease, Carcinoma, medicine, Humans, Radiology, Nuclear Medicine and imaging, Quality of care, Molecular Biology, Neoplasm Staging, TOTAL LAPAROSCOPIC HYSTERECTOMY, Science & Technology, Endometri--Càncer, business.industry, EMISSION TOMOGRAPHY/COMPUTED TOMOGRAPHY, General surgery, LONG-TERM SURVIVAL, Molecular markers, Cell Biology, medicine.disease, Endometrial Neoplasms, radiation, 030104 developmental biology, Settore MED/40 - GINECOLOGIA E OSTETRICIA, EXTERNAL-BEAM RADIOTHERAPY, Càncer d'endometri, Family medicine, Radiation Oncology, Health planning, pathology, business
Abstract

A European consensus conference on endometrial carcinoma was held in 2014 to produce multidisciplinary evidence-based guidelines on selected questions. Given the large body of literature on the management of endometrial carcinoma published since 2014, the European Society of Gynaecological Oncology (ESGO), the European SocieTy for Radiotherapy & Oncology (ESTRO) and the European Society of Pathology (ESP) jointly decided to update these evidence-based guidelines and to cover new topics in order to improve the quality of care for women with endometrial carcinoma across Europe and worldwide. ESGO/ESTRO/ESP nominated an international multidisciplinary development group consisting of practicing clinicians and researchers who have demonstrated leadership and expertise in the care and research of endometrial carcinoma (27 experts across Europe). To ensure that the guidelines are evidence-based, the literature published since 2014, identified from a systematic search was reviewed and critically appraised. In the absence of any clear scientific evidence, judgment was based on the professional experience and consensus of the development group. The guidelines are thus based on the best available evidence and expert agreement. Prior to publication, the guidelines were reviewed by 191 independent international practitioners in cancer care delivery and patient representatives. The guidelines comprehensively cover endometrial carcinoma staging, definition of prognostic risk groups integrating molecular markers, pre- and intra-operative work-up, fertility preservation, management for early, advanced, metastatic, and recurrent disease and palliative treatment. Principles of radiotherapy and pathological evaluation are also defined.

Published
2021

49. Genetically Raised Circulating Bilirubin Levels and Risk of Ten Cancers: A Mendelian Randomization Study

Author

Seyed Khoei, Nazlisadat, Carreras Torres, Robert, Murphy, Neil, Gunter, Marc J., Brennan, Paul, Smith-Byrne, Karl, Mariosa, Daniela, McKay, James D., O’Mara, Tracy, Jarrett, Ruth, Hjalgrim, Henrik, Smedby, Karin E., Cozen, Wendy, Onel, Kenan, Diepstra, Arjan, Wagner, Karl-Heinz, Freisling, Heinz, and ECAC Group

Subjects
Factors de risc en les malalties, Risk factors in diseases, Càncer, Antioxidants, Cancer
Abstract

Bilirubin, an endogenous antioxidant, may play a protective role in cancer development. We applied two-sample Mendelian randomization to investigate whether genetically raised bilirubin levels are causally associated with the risk of ten cancers (pancreas, kidney, endometrium, ovary, breast, prostate, lung, Hodgkin's lymphoma, melanoma, and neuroblastoma). The number of cases and their matched controls of European descent ranged from 122,977 and 105,974 for breast cancer to 1200 and 6417 for Hodgkin's lymphoma, respectively. A total of 115 single-nucleotide polymorphisms (SNPs) associated (p < 5 × 10-8) with circulating total bilirubin, extracted from a genome-wide association study in the UK Biobank, were used as instrumental variables. One SNP (rs6431625) in the promoter region of the uridine-diphosphoglucuronate glucuronosyltransferase1A1 (UGT1A1) gene explained 16.9% and the remaining 114 SNPs (non-UGT1A1 SNPs) explained 3.1% of phenotypic variance in circulating bilirubin levels. A one-standarddeviation increment in circulating bilirubin (≈ 4.4 µmol/L), predicted by non-UGT1A1 SNPs, was inversely associated with risk of squamous cell lung cancer and Hodgkin's lymphoma (odds ratio (OR) 0.85, 95% confidence interval (CI) 0.73-0.99, P 0.04 and OR 0.64, 95% CI 0.42-0.99, p 0.04, respectively), which was confirmed after removing potential pleiotropic SNPs. In contrast, a positive association was observed with the risk of breast cancer after removing potential pleiotropic SNPs (OR 1.12, 95% CI 1.04-1.20, p 0.002). There was little evidence for robust associations with the other seven cancers investigated. Genetically raised bilirubin levels were inversely associated with risk of squamous cell lung cancer as well as Hodgkin's lymphoma and positively associated with risk of breast cancer. Further studies are required to investigate the utility of bilirubin as a low-cost clinical marker to improve risk prediction for certain cancers.

Published
2021

50. Applications of Machine Learning in Human Microbiome Studies: A Review on Feature Selection, Biomarker Identification, Disease Prediction and Treatment

Author

Laura Judith Marcos-Zambrano, Kanita Karaduzovic-Hadziabdic, Tatjana Loncar Turukalo, Piotr Przymus, Vladimir Trajkovik, Oliver Aasmets, Magali Berland, Aleksandra Gruca, Jasminka Hasic, Karel Hron, Thomas Klammsteiner, Mikhail Kolev, Leo Lahti, Marta B. Lopes, Victor Moreno, Irina Naskinova, Elin Org, Inês Paciência, Georgios Papoutsoglou, Rajesh Shigdel, Blaz Stres, Baiba Vilne, Malik Yousef, Eftim Zdravevski, Ioannis Tsamardinos, Enrique Carrillo de Santa Pau, Marcus J. Claesson, Isabel Moreno-Indias, Jaak Truu, and Instituto de Saúde Pública da Universidade do Porto

Subjects
Microbiology (medical), Computer science, Risk factors in diseases, lcsh:QR1-502, microbiome, Feature selection, Review, Machine learning, computer.software_genre, Microbiology, lcsh:Microbiology, 03 medical and health sciences, 0302 clinical medicine, feature selection, Aprenentatge automàtic, Feature (machine learning), Microbiome, 030304 developmental biology, 0303 health sciences, business.industry, Factors de risc en les malalties, Microbiota, Human microbiome, 3. Good health, machine learning, biomarker identification, Prognostics, Learning to rank, Personalized medicine, Artificial intelligence, business, computer, 030217 neurology & neurosurgery, Software review, disease prediction
Abstract

The number of microbiome-related studies has notably increased the availability of data on human microbiome composition and function. These studies provide the essential material to deeply explore host-microbiome associations and their relation to the development and progression of various complex diseases. Improved data-analytical tools are needed to exploit all information from these biological datasets, taking into account the peculiarities of microbiome data, i.e., compositional, heterogeneous and sparse nature of these datasets. The possibility of predicting host-phenotypes based on taxonomy-informed feature selection to establish an association between microbiome and predict disease states is beneficial for personalized medicine. In this regard, machine learning (ML) provides new insights into the development of models that can be used to predict outputs, such as classification and prediction in microbiology, infer host phenotypes to predict diseases and use microbial communities to stratify patients by their characterization of state-specific microbial signatures. Here we review the state-of-the-art ML methods and respective software applied in human microbiome studies, performed as part of the COST Action ML4Microbiome activities. This scoping review focuses on the application of ML in microbiome studies related to association and clinical use for diagnostics, prognostics, and therapeutics. Although the data presented here is more related to the bacterial community, many algorithms could be applied in general, regardless of the feature type. This literature and software review covering this broad topic is aligned with the scoping review methodology. The manual identification of data sources has been complemented with: (1) automated publication search through digital libraries of the three major publishers using natural language processing (NLP) Toolkit, and (2) an automated identification of relevant software repositories on GitHub and ranking of the related research papers relying on learning to rank approach. This study was supported by COST Action CA18131 “Statistical and machine learning techniques in human microbiome studies”. Estonian Research Council grant PRG548 (JT). Spanish State Research Agency Juan de la Cierva Grant IJC2019-042188-I (LM-Z). EO was founded and OA was supported by Estonian Research Council grant PUT 1371 and EMBO Installation grant 3573. AG was supported by Statutory Research project of the Department of Computer Networks and Systems.

Published
2021

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