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1. Heteroatom-tagged proteomics of lung cancer and chronic obstructive pulmonary disease human serum reveal alterations in selenoproteins

Author

Callejón-Leblic, Belén, Sánchez Espirilla, Saida, Gotera-Rivera, Carolina, Santana, Rafael, Díaz-Olivares, Isabel, María Marín Trigo, José, Casanova Macario, Ciro, Cosio, Borja G., Fuster, Antonia, Solanes García, Ingrid, de-Torres, Juan P., Feu Collado, Nuria, Cabrera Lopez, Carlos, Amado Diago, Carlos, Romero Plaza, Amparo, Padrón Fraysse, Luis Alejandro, Márquez Martín, Eduardo, Marín Royo, Margarit, Balcells Vilarnau, Eva, Llunell Casanovas, Antonia, Martínez González, Cristina, Bautista Galdíz Iturri, Juan, Lacárcel Bautista, Celia, Gómez-Ariza, José Luis, Pereira-Vega, Antonio, Seijo, Luis, López-Campos, José Luis, Peces-Barba, Germán, and García-Barrera, Tamara

Published
2024
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2. Development of HIF-mimicking materials for chronic wound healing

Author

Ramos Rivera, Carolina

Subjects
617.1
Abstract

Non-healing (chronic) wounds are a major health problem; they are painful, cause considerable morbidity and costs the NHS between £4.5 and £5.1 billion annually. New approaches to wound healing that target tissue regeneration, rather than infection management, are urgently needed. The cellular response to oxygen via the Hypoxia Inducible Factor (HIF) pathway is vital for healthy wound repair and activates a number of processes important for wound regeneration including; the recruitment of inflammatory cells, metabolic adaptation, cell survival and a plethora of pro-angiogenic factors. Considering that patients with increased chance of developing chronic wounds (e.g. diabetic and elderly patients) have an impaired response to hypoxia, wound dressings that artificially targets the HIF pathway may offer some promise in restoring chronic wound healing. Here we investigate if HIF mimetics (DMOG, DFO and cobalt) and HIF mimicking bioactive glasses as a possible strategy for chronic wound repair. To test the effect of these HIF mimetics an in vitro hyperglycaemic model, that mimics the impaired HIF response observed in diabetic patients, was developed. HaCaT preconditioned with high glucose levels for 28 days, resulted in an impaired response to hypoxia (reduced VEGF expression and reduced HIF stabilisation, p<0.5). By comparing a range of glucose levels and pre-conditioning periods, this study provides a comprehensive guide to in vitro modelling of wound healing responses, not currently present in the literature. In the hyperglycaemic model, HIF mimetics (DFO and cobalt), restored HIF-1α stabilisation and VEGF expression to a similar (DFO) or greater level (cobalt) to that observed in the normal glucose response to hypoxia (p<0.0001). DMOG also increased VEGF expression, but in mechanism that appeared to be independent to HIF-1α stabilisation. Considering that topical oxygen therapy of chronic wounds is a current treatment modality with some evidence of success, despite the inevitable oxidative stress caused, it was investigated if HIF mimetics would enhance cell survival and activate the regenerative approaches associated with HIF stabilisation (regardless of the local oxygen pressure). HaCaTs were subjected to 100% O2 which caused cell death within 48 hours. Interestingly, HIF stabilisation levels were higher under hyperoxygen conditions in the hyperglycaemic conditions, when compared to normal levels of glucose (p=0.003). This is in line with the increased cell survival observed in hyperglycaemic cells at a prolonged exposure to 85% O2 (p > 0.001). Silica-based bioactive glasses containing cobalt (and other ions that may enhance wound healing, Mg & Zn) were prepared via the melt-derived route. Controlled Co release from the glasses was observed in the physiological range of HIF stabilisation. Zinc ions promoted cell proliferation under hypoxic conditions but not normoxic conditions (p<0.01). The dissolution products from the Cobalt-containing glasses stimulated VEGF secretion linearly to the percentage of cobalt molarity in the glass compositions. Cobalt and zinc-releasing glasses demonstrated the potential use in advanced wound dressings for chronic wounds.

Published
2020

4. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Author

Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., and Verkade, Henkjan J.

Published
2023
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6. Deep learning-based lesion subtyping and prediction of clinical outcomes in COVID-19 pneumonia using chest CT

Author

Bermejo-Peláez, David, San José Estépar, Raúl, Fernández-Velilla, María, Palacios Miras, Carmelo, Gallardo Madueño, Guillermo, Benegas, Mariana, Gotera Rivera, Carolina, Cuerpo, Sandra, Luengo-Oroz, Miguel, Sellarés, Jacobo, Sánchez, Marcelo, Bastarrika, Gorka, Peces Barba, German, Seijo, Luis M., and Ledesma-Carbayo, María J.

Published
2022
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7. Mucormicosis: estudio retrospectivo a 5 años en un hospital de tercer nivel de la Ciudad de México.

Author

González Rivera, Carolina, González Ibarra, Misael, Duran Juárez, Sandra Edith, Hernández García, Jesús Guillermo, Guerrero del Moral, Bernardo, and Arenas Guzmán, Roberto

Abstract

OBJECTIVE: To determine the incidence, risk factors, clinical findings and outcome of patients at Hospital Juarez of Mexico. MATERIALS AND METHODS: Retrospective, observational, cross-sectional, non-experimental, single-center and analytical study was done including the records of patients with direct examination, culture or histopathological study positive for mucormycosis. The incidence by year and demographic and clinical characteristics were studied from January 2017 to December 2022 at the Hospital Juarez of Mexico. RESULTS: A total of 14 patients with mucormycosis were identified. The median age was 51 years, and the majority were women (n = 9). The site of involvement was rhinoorbito-cerebral mucormycosis in the entire sample. Eleven patients had uncontrolled diabetes mellitus. Annual cases of mucormycosis increased notably at the end of the COVID-19 pandemic during 2022. CONCLUSIONS: Mucormycosis is an invasive fungal disease most seen in immunocompromised patients. In this study, its highest prevalence was in decompensated diabetes mellitus and the clinical variety was rhino-orbito-cerebral. An increase was noted at the end of the COVID-19 pandemic. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Effectiveness and Safety of Inhaled Antibiotics in Patients With Chronic Obstructive Pulmonary Disease. A Multicentre Observational Study

Author

Rolon, Annie Navarro, Wang, Xuejie, Tapia, Alicia Marín, Rubio, Myriam Calle, Asensio, María Jesús Linares, Orbis, Iria Pérez, Olondris, Pilar Martínez, Sanz, Ascensión Hernando, Gafas, Alicia de Pablos, Royo, Margarita Marín, Peris, Selene Cuenca, Fuertes, Julia Amaranta García, Olveira, Casilda, Ramos, Guillermo Bentabol, Bou, Lirios Sacristán, Moreno, Rosa María Girón, Arguedas, Sandra Marín, Zabaleta, Raúl Moreno, Fernández, Sarai Quirós, Sarasate, Mikel, Arranz, María Victoria Leal, Pozas, Gema Castaño de las, Ávila, Nuria Bruguera, Diago, Carlos Antonio Amado, Viteri, Soledad Alonso, Cancelo, María Isabel Ramos, Rivera, Carolina Gotera, Díez, Javier de Miguel, Muñoz, Gemma Sánchez, Zapatero, Esperanza Martín, Celis, Sandra Ros, Navarro, Silvia Merlos, García, Rut Ayerbe, De la Rosa Carrillo, David, Martínez-García, Miguel Ángel, Barreiro, Esther, Tabernero Huguet, Eva, Costa Sola, Roser, García-Clemente, Marta María, Celorrio Jiménez, Nuria, Rodríguez Pons, Laura, Calero Acuña, Carmen, Rodríguez Hermosa, Juan Luís, Golpe, Rafael, Dacal Quintas, Raquel, Sánchez-Cuéllar, Silvia, Torres Arroyo, Irene, Blanco Aparicio, Marina, Almadana Pacheco, Virginia, and Miravitlles, Marc

Published
2022
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13. Incidence and short-term outcomes of Kawasaki disease

Author

Robinson, Cal, Chanchlani, Rahul, Gayowsky, Anastasia, Brar, Sandeep, Darling, Elizabeth, Demers, Catherine, Klowak, Jennifer, Knight, Braden, Kuenzig, Ellen, Mondal, Tapas, Parekh, Rulan, Seow, Hsien, Jimenez-Rivera, Carolina, Webster, Richard, Fung, Stephen, Benchimol, Eric I., and Batthish, Michelle

Published
2021
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14. Heteroatom-tagged proteomics of lung cancer and chronic obstructive pulmonary disease human serum reveal alterations in selenoproteins

Author

Junta de Andalucía, Sociedad Española de Neumología y Cirugía Torácica, Fundación Neumosur, Instituto de Salud Carlos III, Grupo Menarini, AstraZeneca, Universidad de Huelva, Consorcio de Bibliotecas Universitarias de Andalucía, Callejón-Leblic, Belén, Sánchez-Espirilla, Saida, Gotera-Rivera, Carolina, Santana, Rafael, Díaz-Olivares, Isabel, María Marín Trigo, José, Casanova Macario, Ciro, Cosio, Borja G., Fuster, Antonia, Solanes García, Ingrid, Torres, Juan Pablo de, Feu Collado, Nuria, Cabrera Lopez, Carlos, Amado Diago, Carlos, Romero-Plaza, Amparo, Padrón Fraysse, Luis Alejandro, Márquez Martín, Eduardo, Marín Royo, Margarit, Balcells Vilarnau, Eva, Llunell Casanovas, Antonia, Martínez-González, Cristina, Bautista Galdíz Iturri, Juan, Lacárcel Bautista, Celia, Gómez-Ariza, José L., Pereira-Vega, Antonio, Seijo, Luis, López-Campos, J. L., Peces-Barba, Germán, García-Barrera, Tamara, Junta de Andalucía, Sociedad Española de Neumología y Cirugía Torácica, Fundación Neumosur, Instituto de Salud Carlos III, Grupo Menarini, AstraZeneca, Universidad de Huelva, Consorcio de Bibliotecas Universitarias de Andalucía, Callejón-Leblic, Belén, Sánchez-Espirilla, Saida, Gotera-Rivera, Carolina, Santana, Rafael, Díaz-Olivares, Isabel, María Marín Trigo, José, Casanova Macario, Ciro, Cosio, Borja G., Fuster, Antonia, Solanes García, Ingrid, Torres, Juan Pablo de, Feu Collado, Nuria, Cabrera Lopez, Carlos, Amado Diago, Carlos, Romero-Plaza, Amparo, Padrón Fraysse, Luis Alejandro, Márquez Martín, Eduardo, Marín Royo, Margarit, Balcells Vilarnau, Eva, Llunell Casanovas, Antonia, Martínez-González, Cristina, Bautista Galdíz Iturri, Juan, Lacárcel Bautista, Celia, Gómez-Ariza, José L., Pereira-Vega, Antonio, Seijo, Luis, López-Campos, J. L., Peces-Barba, Germán, and García-Barrera, Tamara

Abstract

Heteroatom-tagged proteomics allows the absolute quantification of selenoproteins using the heteroatom as a “tag” into a selective and sensitive atomic detector instead of a molecular one. Using this analytical method, about 90% of total selenium in human serum/plasma can be measured as selenoproteins and total selenometabolites and thus, the status of selenium can be determined. Herein, we determined the absolute concentration of selenoproteins in human serum patients with lung cancer (LC) and chronic obstructive pulmonary disease (COPD), a competing cause of morbidity and mortality in smokers as well as an independent risk factor for LC. We conducted an observational study of 154 human serum samples obtained from LC and COPD patients with varying severity of disease, including COPD patients who developed LC during follow-up and healthy controls (HC). Using heteroatom-tagged proteomics, we determined extracellular glutathione peroxidase (eGPx), selenoprotein P (SELENOP), and selenoalbumin (SeAlb). Associations between selenoproteins were also studied as potential biomarkers of disease. The concentration of eGPx was significantly higher in the all-inclusive COPD cohort compared to HC, COPD patients with LC, or those with mild obstructive lung disease, while SELENOP concentration was significantly decreased in LC patients compared to HC and COPD. We found an inverse correlation between SELENOP and SeAlb in HC, but also in LC patients, and especially in patients with COPD and LC. Moreover, we found that eGPx and selenometabolite concentrations were positively associated with LC human serum. Selenoprotein concentrations were altered in COPD and LC when compared to healthy controls suggesting a potential role of the selenoproteome in the diagnosis and/or treatment of these tobacco-related diseases.

Published
2024

20. Severe Acute Hepatitis in Children of Unknown Etiology

Author

Ng, Vicky, primary, Science, Michelle, additional, Feld, Jordan, additional, Shah, Hemant, additional, Bitnun, Ari, additional, Bourns, Laura, additional, Campigotto, Aaron, additional, Cohen, Eyal, additional, Gubbay, Jonathan, additional, Jimenez-Rivera, Carolina, additional, Orkin, Julia, additional, Razak, Fahad, additional, Saunders, Andrea, additional, Sayed, Blayne, additional, Salvadori, Marina, additional, Yaffe, Barbara, additional, Zygmunt, Austin, additional, and Allen, Upton, additional

Published
2022
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21. Untargeted Metabolomic Study of Lung Cancer Patients after Surgery with Curative Intent

Author

Sanchez-Espirilla, Saida, primary, Pereira-Vega, Antonio, additional, Callejón-Leblic, Belén, additional, Díaz-Olivares, Isabel, additional, Santana, Rafael, additional, Gotera Rivera, Carolina, additional, Gómez-Ariza, José Luis, additional, López-Campos, José Luis, additional, Blanco-Orozco, Ana Isabel, additional, Seijo, Luis, additional, Rodríguez, María, additional, Padrón Fraysse, Luis Alejandro, additional, Herrera-Chilla, Ángeles, additional, Peces-Barba, Germán, additional, and Barrera, Tamara García, additional

Published
2023
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23. Metallomic Signatures of Lung Cancer and Chronic Obstructive Pulmonary Disease

Author

Callejón-Leblic, Belén, primary, Sánchez Espirilla, Saida, additional, Gotera-Rivera, Carolina, additional, Santana, Rafael, additional, Díaz-Olivares, Isabel, additional, Marín, José M., additional, Macario, Ciro Casanova, additional, Cosio, Borja García, additional, Fuster, Antonia, additional, García, Ingrid Solanes, additional, de-Torres, Juan P., additional, Feu Collado, Nuria, additional, Cabrera Lopez, Carlos, additional, Amado Diago, Carlos, additional, Romero Plaza, Amparo, additional, Fraysse, Luis Alejandro Padrón, additional, Márquez Martín, Eduardo, additional, Marín Royo, Margarita, additional, Balcells Vilarnau, Eva, additional, Llunell Casanovas, Antonia, additional, Martínez González, Cristina, additional, Galdíz Iturri, Juan Bautista, additional, Lacárcel Bautista, Celia, additional, Gómez-Ariza, José Luis, additional, Pereira-Vega, Antonio, additional, Seijo, Luis, additional, López-Campos, José Luis, additional, Peces-Barba, Germán, additional, and García-Barrera, Tamara, additional

Published
2023
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24. European Respiratory Society short guidelines for the use of as-needed ICS/formoterol in mild asthma

Author

Papi, Alberto, primary, Ferreira, Diogenes S., additional, Agache, Ioana, additional, Baraldi, Eugenio, additional, Beasley, Richard, additional, Brusselle, Guy, additional, Coleman, Courtney, additional, Gaga, Mina, additional, Gotera Rivera, Carolina Maria, additional, Melén, Erik, additional, Pavord, Ian D., additional, Peñate Gómez, Deborah, additional, Schuermans, Daniel, additional, Spanevello, Antonio, additional, Tonia, Thomy, additional, and Schleich, Florence, additional

Published
2023
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25. A multicentre, randomized controlled trial of telehealth for the management of COPD

Author

Soriano, Joan B., García-Río, Francisco, Vázquez-Espinosa, Emma, Conforto, Jose Ignacio, Hernando-Sanz, Ascensión, López-Yepes, Luis, Galera-Martínez, Raúl, Peces-Barba, Germán, Gotera-Rivera, Carolina María, Pérez-Warnisher, M. Teresa, Segrelles-Calvo, Gonzalo, Zamarro, Celia, González-Ponce, Pablo, Ramos, M. Inmaculata, Jafri, Syed, and Ancochea, Julio

Published
2018
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26. A rare presentation of a rare entity: giant condyloma (Buschke–Löwenstein) tumor.

Author

Serpa-Irizarry, Miguel, Tiru-Vega, Marilee, Vazquez-Rivera, Carolina, Torres-Rivera, Brandon, Rivera-Roman, Keila, and Rodriguez-Quilichini, Segundo

Subjects
HUMAN papillomavirus, VIRUS diseases, SQUAMOUS cell carcinoma, CYSTIC fibrosis, SURGICAL excision
Abstract

Giant condyloma accuminata or Buschke–Lowenstein tumor is a rare entity characterized by a large verrucous or cauliflower-shaped lesion primarily affecting the anogenital region. It forms part of a disease spectrum between classic condyloma accuminata and squamous cell carcinoma. Classically, it is thought to arise from previous human papilloma virus infection. Surgical management is usually the treatment of choice despite their high rate of soft tissue infiltration and recurrence. We herein describe a case of a 40-year-old male patient with cystic fibrosis diagnosed with giant condyloma accuminata without human papilloma virus or other paradigmatic risk factors that was treated with near-total surgical resection. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Orofacial manifestations of chorea-acanthocytosis: case presentation and literature review.

Author

Zamora, Jorge Gabriel, Rivera, Carolina, Utsman, Robert, and Klasser, Gary D.

Subjects
GENETIC disorders, FACE, LITERATURE reviews, NEURODEGENERATION, MOUTH, DISEASE complications
Abstract

Chorea-acanthocytosis is a rare neurological disorder that produces involuntary body movements, along with a condition of misshapen red blood cells that is characterized by appearing in early adulthood. There are numerous orofacial manifestations linked to chorea-acanthocytosis that the dental practitioner must consider in early and late stages of the disease, such as chronic oral ulcerations, chronic mouth grinding, difficulty swallowing, and biting the lip and tongue, among others. This case, the first to the authors' knowledge to address the area of orofacial pain, provides general signs and symptoms of the disorder and management following a multidisciplinary approach. The life span of patients with this disorder is generally shortened, and correct management is essential to improve the quality of life. [ABSTRACT FROM AUTHOR]

Published
2022
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28. Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group

Author

Murillo Perez, Carla Fiorella, primary, Vandriel, Shannon M., additional, Wang, Jian-She, additional, Liting, Li, additional, She, Huiyu, additional, Jankowska, Irena, additional, Czubkowski, Piotr, additional, Gliwicz, Dorota, additional, Gonzalès, Emmanuel, additional, Jacquemin, Emmanuel, additional, Bouligand, Jérôme, additional, D’Antiga, Lorenzo, additional, Nicastro, Emanuele, additional, Fischler, Björn, additional, Arnell, Henrik, additional, Siew, Susan, additional, Stormon, Michael, additional, Loomes, Kathleen M., additional, Piccoli, David A., additional, Rand, Elizabeth B., additional, Squires, James E., additional, Karpen, Saul J., additional, Romero, Rene, additional, Kasahara, Mureo, additional, Önal, Zerrin, additional, Sokal, Etienne, additional, Demaret, Tanguy, additional, Wiecek, Sabina, additional, Lacaille, Florence, additional, Debray, Dominique, additional, Hardikar, Winita, additional, Shankar, Sahana, additional, Valentino, Pamela, additional, Sundaram, Shikha, additional, Chaidez, Alexander, additional, Ebel, Noelle, additional, Feinstein, Jeffrey, additional, Mozar-Glazberg, Yael, additional, Lin, Henry, additional, Rock, Nathalie, additional, Verkade, Henkjan J., additional, Jensen, M.K., additional, Jaramillo, Catalina, additional, Kim, Kyungmo, additional, Oh, Seak Hee, additional, Brecelj, Jernej, additional, Alam, Seema, additional, Indolfi, Giuseppe, additional, Blondet, Niviann, additional, Fawaz, Rima, additional, Nastasio, Silvia, additional, Calvo, Pier Luigi, additional, Nebbia, Gabriella, additional, Arıkan, Cigdem, additional, Larson-Nath, Catherine, additional, Zizzo, Andréanne N., additional, Sandahl, Thomas Damgaard, additional, Tzivinikos, Christos, additional, El-Koofy, Nehal, additional, Elmonem, Mohamed, additional, Desai, Dev, additional, Karnsakul, Wikrom, additional, Karthikeyan, Palaniswamy, additional, Bulut, Pinar, additional, Kerkar, Nanda, additional, Wolters, Victorien, additional, Roberts, Amin J, additional, Evans, Helen, additional, Sanchez, Maria Camila, additional, Cavalieri, Maria Lorena, additional, Kelly, Deirdre, additional, Lee, Way Seah, additional, Hajinicolaou, Christina, additional, Lertudomphonwanit, Chatmanee, additional, Fischer, Ryan, additional, Bernabeu, Jesús Quintero, additional, Quiros-Tejeira, Ruben E., additional, Melere, Melina, additional, Carvalho, Elisa, additional, Eshun, John, additional, Zellos, Aglaia, additional, Dezsőfi, Antal, additional, Pinto, Raquel Borges, additional, Schwarz, Kathleen, additional, Rogalidou, Maria, additional, Garcia, Jennifer, additional, Tamara, María Legarda, additional, Beretta, Marisa, additional, Mujawar, Quais, additional, Santos-Silva, Ermelinda, additional, Busoms, Cristina Molera, additional, Lurz, Eberhard, additional, Gonçalves, Cristina, additional, Jimenez-Rivera, Carolina, additional, Bañales, Jesús M., additional, Shah, Uzma, additional, Thompson, Richard, additional, Hansen, Bettina, additional, and Kamath, Binita M., additional

Published
2023
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35. Communicative Activities for Middle School Classrooms

Author

Rivera, Carolina

Abstract

Middle school teachers often attend seminars and workshops where the advantages of communicative activities are discussed at great length. Teachers may even enjoy doing the communicative activities themselves during a teacher training session. However, many teachers are afraid to use communicative activities in the classroom. In theory teachers often believe that communicative activities are what students need, but in practice it can be difficult to implement a communicative approach with antsy middle school students. In this article, Carolina Rivera shares with teachers some activities that she has applied in her classroom and that her students enjoyed. The objective of these activities is to make students practice their oral skills with interesting, motivating topics that allow them to talk about themselves and others and to express their points of view. The idea is to get them to talk, which is something that middle school students love to do. When the activities are carefully presented, students will be eager to use their English language skills, which, of course, is the point.

Published
2006

36. Cellular Diversity in Human Subgenual Anterior Cingulate and Dorsolateral Prefrontal Cortex by Single-Nucleus RNA-Sequencing

Author

Kim, Billy, primary, Kim, Dowon, additional, Schulmann, Anton, additional, Patel, Yash, additional, Caban-Rivera, Carolina, additional, Kim, Paul, additional, Jambhale, Ananya, additional, Johnson, Kory R., additional, Feng, Ningping, additional, Xu, Qing, additional, Kang, Sun Jung, additional, Mandal, Ajeet, additional, Kelly, Michael, additional, Akula, Nirmala, additional, McMahon, Francis J., additional, Lipska, Barbara, additional, Marenco, Stefano, additional, and Auluck, Pavan K., additional

Published
2023
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37. Natural History of Liver Disease in a Large International Cohort of Children with Alagille syndrome: Results from The <scp>GALA</scp> Study

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Vandriel, Shannon M., Li, Li‐Ting, She, Huiyu, Wang, Jian‐She, Gilbert, Melissa A., Jankowska, Irena, Czubkowski, Piotr, Gliwicz‐Miedzińska, Dorota, Gonzales, Emmanuel M., Jacquemin, Emmanuel, Bouligand, Jérôme, Spinner, Nancy B., Loomes, Kathleen M., Piccoli, David A., D'Antiga, Lorenzo, Nicastro, Emanuele, Sokal, Etienne, Demaret,Tanguy, Ebel, Noelle H., Feinstein, Jeffrey A., Fawaz, Rima, Nastasio, Silvia, Lacaille, Florence, Debray, Dominique, Arnell, Henrik, Fischler, Björn, Siew, Susan, Stormon, Michael, Karpen, Saul J., Romero, Rene, Kim, Kyung Mo, Baek, Woo Yim, Hardikar, Winita, Shankar, Sahana, Roberts, Amin J., Evans, Helen M., Jensen, M. Kyle, Kavan, Marianne, Sundaram, Shikha S., Chaidez, Alexander, Karthikeyan, Palaniswamy, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Verkade, Henkjan J., Lee, Way Seah, Squires, James E., Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan T., Larson‐Nath, Catherine, Mozer‐Glassberg, Yael, Arikan, Cigdem, Lin, Henry C., Quintero Bernabeu, Jesus, Alam, Seema, Kelly, Deirdre, Carvalho, Elisa, Ferreira, Cristina Targa, Indolfi, Giuseppe, Quiros‐Tejeira, Ruben E., Bulut, Pinar, Calvo, Pier Luigi, Önal, Zerrin, Valentino, Pamela L., Desai, Dev M., Eshun, John, Rogalidou, Maria, Dezsőfi, Antal, Wiecek, Sabina, Nebbia, Gabriella, Borges Pinto, Raquel, Wolters, Victorien M., Tamara, María Legarda, Zizzo, Andréanne N., Garcia, Jennifer, Schwarz, Kathleen, Beretta, Marisa, Sandahl, Thomas Damgaard, Jimenez‐Rivera, Carolina, Kerkar, Nanda, Brecelj, Jernej, Mujawar, Quais, Rock, Nathalie, Busoms, Cristina Molera, Karnsakul, Wikrom, Lurz, Eberhard, Santos‐Silva, Ermelinda, Blondet, Niviann, Bujanda, Luis, Shah, Uzma, Thompson, Richard J., Hansen, Bettina E., Kamath, Binita M., UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Vandriel, Shannon M., Li, Li‐Ting, She, Huiyu, Wang, Jian‐She, Gilbert, Melissa A., Jankowska, Irena, Czubkowski, Piotr, Gliwicz‐Miedzińska, Dorota, Gonzales, Emmanuel M., Jacquemin, Emmanuel, Bouligand, Jérôme, Spinner, Nancy B., Loomes, Kathleen M., Piccoli, David A., D'Antiga, Lorenzo, Nicastro, Emanuele, Sokal, Etienne, Demaret,Tanguy, Ebel, Noelle H., Feinstein, Jeffrey A., Fawaz, Rima, Nastasio, Silvia, Lacaille, Florence, Debray, Dominique, Arnell, Henrik, Fischler, Björn, Siew, Susan, Stormon, Michael, Karpen, Saul J., Romero, Rene, Kim, Kyung Mo, Baek, Woo Yim, Hardikar, Winita, Shankar, Sahana, Roberts, Amin J., Evans, Helen M., Jensen, M. Kyle, Kavan, Marianne, Sundaram, Shikha S., Chaidez, Alexander, Karthikeyan, Palaniswamy, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Verkade, Henkjan J., Lee, Way Seah, Squires, James E., Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan T., Larson‐Nath, Catherine, Mozer‐Glassberg, Yael, Arikan, Cigdem, Lin, Henry C., Quintero Bernabeu, Jesus, Alam, Seema, Kelly, Deirdre, Carvalho, Elisa, Ferreira, Cristina Targa, Indolfi, Giuseppe, Quiros‐Tejeira, Ruben E., Bulut, Pinar, Calvo, Pier Luigi, Önal, Zerrin, Valentino, Pamela L., Desai, Dev M., Eshun, John, Rogalidou, Maria, Dezsőfi, Antal, Wiecek, Sabina, Nebbia, Gabriella, Borges Pinto, Raquel, Wolters, Victorien M., Tamara, María Legarda, Zizzo, Andréanne N., Garcia, Jennifer, Schwarz, Kathleen, Beretta, Marisa, Sandahl, Thomas Damgaard, Jimenez‐Rivera, Carolina, Kerkar, Nanda, Brecelj, Jernej, Mujawar, Quais, Rock, Nathalie, Busoms, Cristina Molera, Karnsakul, Wikrom, Lurz, Eberhard, Santos‐Silva, Ermelinda, Blondet, Niviann, Bujanda, Luis, Shah, Uzma, Thompson, Richard J., Hansen, Bettina E., and Kamath, Binita M.

Abstract

Background: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international, cohort of children with ALGS. Methods: Multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born Jan-1997 - Aug-2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. Results: 1433 children (57% male) from 67 centers in 29 countries were included. 10 and 18-years NLS rates were 54.4% and 40.3%. By 10 and 18-years, 51.5% and 66.0% of ALGS children experienced ≥1 adverse liver-related event (CEPH, transplant or death). Children (>6 and ≤12 months) with median total bilirubin (TB) levels between ≥5.0 and <10.0 mg/dL had a 4.1-fold (95% CI 1.6 - 10.8) and those ≥10.0 mg/dL had an 8.0-fold (95% CI 3.4 - 18.4) increased risk of developing CEPH compared with those <5.0 mg/dL. Median TB levels between ≥5.0 and <10.0 mg/dL and >10.0 mg/dL were associated with a 4.8 (95% CI 2.4 - 9.7) and 15.6 (95% CI 8.7 - 28.2) increased risk of transplantation relative to <5.0 mg/dL. Median TB <5.0 mg/dL were associated with higher NLS rates relative to ≥5.0 mg/dL, with 79% reaching adulthood with native liver (p<0.001). Conclusions: In this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dL between 6-and-12-months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of novel therapies.

Published
2023

38. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., Verkade, Henkjan J., UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., and Verkade, Henkjan J.

Abstract

Background & aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear. We aimed to assess their genotype-phenotype relationship. Methods: From the NAPPED database, we selected patients with homozygous p.D482G or p.E297G mutations (BSEP1/1; n = 31), with one p.D482G or p.E297G, and one PPTM (BSEP1/3; n = 30), and with two PPTMs (BSEP3/3; n = 77). We compared clinical presentation, native liver survival (NLS), and the effect of siEHC on NLS. Results: The groups had a similar median age at presentation (0.7-1.3 years). Overall NLS at age 10 years was 21% in BSEP1/3 vs. 75% in BSEP1/1 and 23% in BSEP3/3 (p <0.001). Without siEHC, NLS in the BSEP1/3 group was similar to that in BSEP3/3, but considerably lower than in BSEP1/1 (at age 10 years: 38%, 30%, and 71%, respectively; p = 0.003). After siEHC, BSEP1/3 and BSEP3/3 were associated with similarly low NLS, while NLS was much higher in BSEP1/1 (10 years after siEHC, 27%, 14%, and 92%, respectively; p <0.001). Conclusions: Individuals with BSEP deficiency with one p.E297G or p.D482G mutation and one PPTM have a similarly severe disease course and low responsiveness to siEHC as those with two PPTMs. This identifies a considerable subgroup of patients who are unlikely to benefit from interruption of the enterohepatic circulation by either surgical or ileal bile acid transporter inhibitor treatment. Impact and implications: This manuscript defines the clinical features and prognosis of individuals with BSEP deficiency involving the combination of one relatively mild and one very severe BSEP deficiency mutation. Until

Published
2023

39. Untargeted Metabolomic Study of Lung Cancer Patients after Surgery with Curative Intent

Author

Junta de Andalucía, Sociedad Española de Neumología y Cirugía Torácica, Asociación de Neumología y Cirugía Torácica del Sur (España), Instituto de Salud Carlos III, Grupo Menarini, Universidad de Huelva, Consorcio de Bibliotecas Universitarias de Andalucía, Sánchez-Espirilla, Saida, Pereira-Vega, Antonio, Callejón-Leblic, Belén, Díaz-Olivares, Isabel, Santana, Rafael, Gotera-Rivera, Carolina, Gómez-Ariza, José L., López-Campos, J. L., Blanco-Orozco, Ana Isabel, Seijo, Luis, Rodríguez, María, Padrón Fraysse, Luis Alejandro, Herrera-Chilla, Ángeles, Peces-Barba, Germán, García-Barrera, Tamara, Junta de Andalucía, Sociedad Española de Neumología y Cirugía Torácica, Asociación de Neumología y Cirugía Torácica del Sur (España), Instituto de Salud Carlos III, Grupo Menarini, Universidad de Huelva, Consorcio de Bibliotecas Universitarias de Andalucía, Sánchez-Espirilla, Saida, Pereira-Vega, Antonio, Callejón-Leblic, Belén, Díaz-Olivares, Isabel, Santana, Rafael, Gotera-Rivera, Carolina, Gómez-Ariza, José L., López-Campos, J. L., Blanco-Orozco, Ana Isabel, Seijo, Luis, Rodríguez, María, Padrón Fraysse, Luis Alejandro, Herrera-Chilla, Ángeles, Peces-Barba, Germán, and García-Barrera, Tamara

Abstract

Lung cancer (LC) is a leading cause of mortality, claiming more than 1.8 million deaths per year worldwide. Surgery is one of the most effective treatments when the disease is in its early stages. The study of metabolic alterations after surgical intervention with curative intent could be used to assess the response to treatment or the detection of cancer recurrence. In this study, we have evaluated the metabolomic profile of serum samples (n = 110) from preoperative (PRE) and postoperative (POST) LC patients collected at two different time points (1 month, A; 3–6 months, B) with respect to healthy people. An untargeted metabolomic platform based on reversed phase (RP) and hydrophilic interaction chromatography (HILIC), using ultra-high performance liquid chromatography (UHPLC) and mass spectrometry (MS), was applied (MassIVE ID MSV000092213). Twenty-two altered metabolites were annotated by comparing all the different studied groups. DG(14,0/22:1), stearamide, proline, and E,e-carotene-3,3′-dione were found altered in PRE, and their levels returned to those of a baseline control group 3–6 months after surgery. Furthermore, 3-galactosyllactose levels remained altered after intervention in some patients. This study provides unique insights into the metabolic profiles of LC patients after surgery at two different time points by combining complementary analytical methods.

Published
2023

40. Metallomic Signatures of Lung Cancer and Chronic Obstructive Pulmonary Disease

Author

Ministerio de Ciencia, Innovación y Universidades (España), Junta de Andalucía, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Callejón-Leblic, Belén, Sánchez-Espirilla, Saida, Gotera-Rivera, Carolina, Santana, Rafael, Díaz-Olivares, Isabel, Marín, José María, Casanova, Ciro, García-Cosio, Borja, Fuster, Antonia, Solanes, Ingrid, Torres, Juan Pablo de, Feu-Collado, Nuria, Cabrera-López, Carlos, Amado, Carlos, Romero-Plaza, Amparo, Padrón Fraysse, Luis Alejandro, Márquez-Martín, Eduardo, Marín-Royo, Margarita, Balcells, Eva, Llunell Casanovas, Antonia, Martínez-González, Cristina, Galdíz Iturri, Juan Bautista, Lacárcel Bautista, Celia, Gómez-Ariza, José L., Pereira-Vega, Antonio, Seijo, Luis, López-Campos, J. L., Peces-Barba, Germán, García-Barrera, Tamara, Ministerio de Ciencia, Innovación y Universidades (España), Junta de Andalucía, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Callejón-Leblic, Belén, Sánchez-Espirilla, Saida, Gotera-Rivera, Carolina, Santana, Rafael, Díaz-Olivares, Isabel, Marín, José María, Casanova, Ciro, García-Cosio, Borja, Fuster, Antonia, Solanes, Ingrid, Torres, Juan Pablo de, Feu-Collado, Nuria, Cabrera-López, Carlos, Amado, Carlos, Romero-Plaza, Amparo, Padrón Fraysse, Luis Alejandro, Márquez-Martín, Eduardo, Marín-Royo, Margarita, Balcells, Eva, Llunell Casanovas, Antonia, Martínez-González, Cristina, Galdíz Iturri, Juan Bautista, Lacárcel Bautista, Celia, Gómez-Ariza, José L., Pereira-Vega, Antonio, Seijo, Luis, López-Campos, J. L., Peces-Barba, Germán, and García-Barrera, Tamara

Abstract

Lung cancer (LC) is the leading cause of cancer deaths, and chronic obstructive pulmonary disease (COPD) can increase LC risk. Metallomics may provide insights into both of these tobacco-related diseases and their shared etiology. We conducted an observational study of 191 human serum samples, including those of healthy controls, LC patients, COPD patients, and patients with both COPD and LC. We found 18 elements (V, Al, As, Mn, Co, Cu, Zn, Cd, Se, W, Mo, Sb, Pb, Tl, Cr, Mg, Ni, and U) in these samples. In addition, we evaluated the elemental profiles of COPD cases of varying severity. The ratios and associations between the elements were also studied as possible signatures of the diseases. COPD severity and LC have a significant impact on the elemental composition of human serum. The severity of COPD was found to reduce the serum concentrations of As, Cd, and Tl and increased the serum concentrations of Mn and Sb compared with healthy control samples, while LC was found to increase Al, As, Mn, and Pb concentrations. This study provides new insights into the effects of LC and COPD on the human serum elemental profile that will pave the way for the potential use of elements as biomarkers for diagnosis and prognosis. It also sheds light on the potential link between the two diseases, i.e., the evolution of COPD to LC.

Published
2023

41. Supplementary Material Metallomic Signatures of Lung Cancer and Chronic Obstructive Pulmonary Disease

Author

Ministerio de Ciencia, Innovación y Universidades (España), Junta de Andalucía, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Callejón-Leblic, Belén, Sánchez-Espirilla, Saida, Gotera-Rivera, Carolina, Santana, Rafael, Díaz-Olivares, Isabel, Marín, José María, Casanova, Ciro, García-Cosio, Borja, Fuster, Antonia, Solanes, Ingrid, Torres, Juan Pablo de, Feu-Collado, Nuria, Cabrera-López, Carlos, Amado, Carlos, Romero-Plaza, Amparo, Padrón Fraysse, Luis Alejandro, Márquez-Martín, Eduardo, Marín-Royo, Margarita, Balcells, Eva, Llunell Casanovas, Antonia, Martínez-González, Cristina, Galdíz Iturri, Juan Bautista, Lacárcel Bautista, Celia, Gómez-Ariza, José L., Pereira-Vega, Antonio, Seijo, Luis, López-Campos, J. L., Peces-Barba, Germán, García-Barrera, Tamara, Ministerio de Ciencia, Innovación y Universidades (España), Junta de Andalucía, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Callejón-Leblic, Belén, Sánchez-Espirilla, Saida, Gotera-Rivera, Carolina, Santana, Rafael, Díaz-Olivares, Isabel, Marín, José María, Casanova, Ciro, García-Cosio, Borja, Fuster, Antonia, Solanes, Ingrid, Torres, Juan Pablo de, Feu-Collado, Nuria, Cabrera-López, Carlos, Amado, Carlos, Romero-Plaza, Amparo, Padrón Fraysse, Luis Alejandro, Márquez-Martín, Eduardo, Marín-Royo, Margarita, Balcells, Eva, Llunell Casanovas, Antonia, Martínez-González, Cristina, Galdíz Iturri, Juan Bautista, Lacárcel Bautista, Celia, Gómez-Ariza, José L., Pereira-Vega, Antonio, Seijo, Luis, López-Campos, J. L., Peces-Barba, Germán, and García-Barrera, Tamara

Abstract

Lung cancer (LC) is the leading cause of cancer deaths, and chronic obstructive pulmonary disease (COPD) can increase LC risk. Metallomics may provide insights into both of these tobacco-related diseases and their shared etiology. We conducted an observational study of 191 human serum samples, including those of healthy controls, LC patients, COPD patients, and patients with both COPD and LC. We found 18 elements (V, Al, As, Mn, Co, Cu, Zn, Cd, Se, W, Mo, Sb, Pb, Tl, Cr, Mg, Ni, and U) in these samples. In addition, we evaluated the elemental profiles of COPD cases of varying severity. The ratios and associations between the elements were also studied as possible signatures of the diseases. COPD severity and LC have a significant impact on the elemental composition of human serum. The severity of COPD was found to reduce the serum concentrations of As, Cd, and Tl and increased the serum concentrations of Mn and Sb compared with healthy control samples, while LC was found to increase Al, As, Mn, and Pb concentrations. This study provides new insights into the effects of LC and COPD on the human serum elemental profile that will pave the way for the potential use of elements as biomarkers for diagnosis and prognosis. It also sheds light on the potential link between the two diseases, i.e., the evolution of COPD to LC.

Published
2023

42. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Author

Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Felzen, Antonia; van Wessel, Daan B.E.; Gonzales, Emmanuel; Thompson, Richard J.; Jankowska, Irena; Shneider, Benjamin L.; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipi?ski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B.F.; Serranti, Daniele; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezs?fi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian-She; Li, Liting; Durmaz, Özlem; Kerkar, Nanda; Jørgensen, Marianne Hørby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordoñez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey-Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M.; Sokol, Ronald J.; Suchy, Frederick J.; Loomes, Kathleen M.; McKiernan, Patrick J.; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A.; Wang, Kasper; Hansen, Bettina E.; Verkade, Henkjan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Felzen, Antonia; van Wessel, Daan B.E.; Gonzales, Emmanuel; Thompson, Richard J.; Jankowska, Irena; Shneider, Benjamin L.; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipi?ski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B.F.; Serranti, Daniele; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezs?fi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian-She; Li, Liting; Durmaz, Özlem; Kerkar, Nanda; Jørgensen, Marianne Hørby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordoñez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey-Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M.; Sokol, Ronald J.; Suchy, Frederick J.; Loomes, Kathleen M.; McKiernan, Patrick J.; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A.; Wang, Kasper; Hansen, Bettina E.; Verkade, Henkjan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine

Abstract

Background & Aims: bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear. We aimed to assess their genotype-phenotype relationship. Methods: from the NAPPED database, we selected patients with homozygous p.D482G or p.E297G mutations (BSEP1/1; n = 31), with one p.D482G or p.E297G, and one PPTM (BSEP1/3; n = 30), and with two PPTMs (BSEP3/3; n = 77). We compared clinical presentation, native liver survival (NLS), and the effect of siEHC on NLS. Results: the groups had a similar median age at presentation (0.7-1.3 years). Overall NLS at age 10 years was 21% in BSEP1/3 vs. 75% in BSEP1/1 and 23% in BSEP3/3 (p <0.001). Without siEHC, NLS in the BSEP1/3 group was similar to that in BSEP3/3, but considerably lower than in BSEP1/1 (at age 10 years: 38%, 30%, and 71%, respectively; p = 0.003). After siEHC, BSEP1/3 and BSEP3/3 were associated with similarly low NLS, while NLS was much higher in BSEP1/1 (10 years after siEHC, 27%, 14%, and 92%, respectively; p <0.001). Conclusions: individuals with BSEP deficiency with one p.E297G or p.D482G mutation and one PPTM have a similarly severe disease course and low responsiveness to siEHC as those with two PPTMs. This identifies a considerable subgroup of patients who are unlikely to benefit from interruption of the enterohepatic circulation by either surgical or ileal bile acid transporter inhibitor treatment. Impact and implications: this manuscript defines the clinical features and prognosis of individuals with BSEP deficiency involving the combination of one relatively mild and one very severe BSEP deficiency mutation. Until, 1. MD/PhD scholarship from the University of Groningen, Groningen, The Netherlands 2. ESPGHAN Networking Grant 2019 3. ChiLDReN and CTSA National Institutes of Health grants: Ann & Robert H. Lurie Children's Hospital, Chicago: U01DK062436; University of Colorado, Denver: U01DK62453, UL1 TR002535; Baylor college of Medicine, Houston: U01DK103149; Children's Hospital of Philadelphia, Philadelphia: U01DK062481, UL1TR000003; Children's Hospital of Pittsburgh, Pittsburgh: U01DK062466; University of California, San Francisco U01DK062500; University of California, San Francisco CTSI grant UL1TR001872; Riley Hospital for Children, Indianapolis: U01DK084536; Seattle Children’s Hospital, Seattle: DK084575; Children’s Hospital Los Angeles, California: U01DK084538. 4. Unrestrictive research grant from Albireo 5. Unrestrictive research grant from Mirum Pharmaceuticals. 6. C&W de Boer Stichting research grant.

Published
2023

45. Untargeted metabolomic study of lung cancer patients after surgery with curative intent: possible metabolites of good prognosis, intervention failure and recurrence

Author

Sánchez-Espirilla, Saida, primary, Vega, Antonio Pereira, additional, Callejón-Leblic, Belén, additional, Díaz-Olivares, Isabel, additional, Santana-Martín, Rafael, additional, Rivera, Carolina Gotera, additional, Gómez-Ariza, José Luis, additional, López-Campos, José Luis, additional, Blanco-Orozco, Ana Isabel, additional, Seijo, Luis, additional, Rodríguez, María, additional, Fraysse, Luis Padrón, additional, Herrera-Chilla, Ángela, additional, Peces-Barba, Germán, additional, and García-Barrera, Tamara, additional

Published
2023
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47. THU-291 - Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group

Author

Murillo Perez, Carla Fiorella, Vandriel, Shannon M., Wang, Jian-She, Liting, Li, She, Huiyu, Jankowska, Irena, Czubkowski, Piotr, Gliwicz, Dorota, Gonzalès, Emmanuel, Jacquemin, Emmanuel, Bouligand, Jérôme, D’Antiga, Lorenzo, Nicastro, Emanuele, Fischler, Björn, Arnell, Henrik, Siew, Susan, Stormon, Michael, Loomes, Kathleen M., Piccoli, David A., Rand, Elizabeth B., Squires, James E., Karpen, Saul J., Romero, Rene, Kasahara, Mureo, Önal, Zerrin, Sokal, Etienne, Demaret, Tanguy, Wiecek, Sabina, Lacaille, Florence, Debray, Dominique, Hardikar, Winita, Shankar, Sahana, Valentino, Pamela, Sundaram, Shikha, Chaidez, Alexander, Ebel, Noelle, Feinstein, Jeffrey, Mozar-Glazberg, Yael, Lin, Henry, Rock, Nathalie, Verkade, Henkjan J., Jensen, M.K., Jaramillo, Catalina, Kim, Kyungmo, Oh, Seak Hee, Brecelj, Jernej, Alam, Seema, Indolfi, Giuseppe, Blondet, Niviann, Fawaz, Rima, Nastasio, Silvia, Calvo, Pier Luigi, Nebbia, Gabriella, Arıkan, Cigdem, Larson-Nath, Catherine, Zizzo, Andréanne N., Sandahl, Thomas Damgaard, Tzivinikos, Christos, El-Koofy, Nehal, Elmonem, Mohamed, Desai, Dev, Karnsakul, Wikrom, Karthikeyan, Palaniswamy, Bulut, Pinar, Kerkar, Nanda, Wolters, Victorien, Roberts, Amin J, Evans, Helen, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Kelly, Deirdre, Lee, Way Seah, Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan, Bernabeu, Jesús Quintero, Quiros-Tejeira, Ruben E., Melere, Melina, Carvalho, Elisa, Eshun, John, Zellos, Aglaia, Dezsőfi, Antal, Pinto, Raquel Borges, Schwarz, Kathleen, Rogalidou, Maria, Garcia, Jennifer, Tamara, María Legarda, Beretta, Marisa, Mujawar, Quais, Santos-Silva, Ermelinda, Busoms, Cristina Molera, Lurz, Eberhard, Gonçalves, Cristina, Jimenez-Rivera, Carolina, Bañales, Jesús M., Shah, Uzma, Thompson, Richard, Hansen, Bettina, and Kamath, Binita M.

Published
2023
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49. ESDR304 - Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation

Author

Warshauer, Emily, primary, Maier, Paul, primary, Fuentes, Ignacia, primary, Runfeldt, Goran, primary, José Escámez, María, primary, Valinotto, Laura, primary, Brown, Adam, primary, Palisson, Francis, primary, Hovnanian, Alain, primary, Roop, Dennis, primary, Illera, Nuria, primary, García, Marta, primary, Del Río, Marcela, primary, Mencia Rodriguez, Angeles, primary, Larcher, Fernando, primary, Hellenthal, Garrett, primary, Consuegra, Liliana, primary, Rivera, Carolina, primary, Nogueiro, Ines, primary, Tang, Jean, primary, Oro, Anthony, primary, Marinkovich, Peter, primary, Titeux, Matthias, primary, Sprecher, Eli, primary, Skorecki, Karl, primary, Norris, David, primary, Bruckner, Anna, primary, Kogut, Igor, primary, Bilousova, Ganna, primary, Natale, Monica, primary, and Beeatriz Manzur, Gracciela, primary

Published
2022
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