Results 81 to 90 of about 99,855 (366)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

The Differential Role of Human Cationic Trypsinogen (PRSS1) p.R122H Mutation in Hereditary and Nonhereditary Chronic Pancreatitis: A Systematic Review and Meta-Analysis. [PDF]

, 2017
Background:Environmental factors and genetic mutations have been increasingly recognized as risk factors for chronic pancreatitis (CP). The PRSS1 p.R122H mutation was the first discovered to affect hereditary CP, with 80% penetrance.
Deng, Lihui, Hu, Cheng, Lugea, Aurelia, Pandol, Stephen J, Su, Hsin-Yuan, Waldron, Richard T, Wen, Li, Xia, Qing, Zhang, Chenlong   +8 more
core   +7 more sources

Selected Topics in Pediatric Gastroenterology

Veterinary Clinics of North America: Small Animal Practice, 2006
This article discusses some of the more common gastrointestinal problems encountered in pediatric patients. Topics include infectious and endoparasitic disorders, congenital esophageal and hepatic disorders, and acute or chronic intestinal diseases. Diagnostic criteria as well as treatment guidelines are presented.
openaire   +3 more sources

Unilateral Versus Bilateral Endoscopic Resection of Olfactory Neuroblastoma: Pooled Analysis From Prospective and Retrospective Multicenter Data

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy primarily treated with surgery. For tumors arising from the olfactory area, traditional treatment involves transcribriform resection of the anterior cranial fossa. Surgery can be performed with unilateral or bilateral resection depending on extent of involvement; however ...
Arash Abiri, Theodore V. Nguyen, Haidee Chen, Elise Krippaehne, David K. Lerner, Arifeen S. Rahman, Pooya Roozdar, Brandon R. Rosvall, Michael Sabbaj, Alan D. Workman, Shannon Wu, Nithin D. Adappa, Daniel M. Beswick, Eugene H. Chang, Michael T. Chang, Garret Choby, Jacob G. Eide, Jennifer E. Douglas, Mathew Geltzeiler, Michael A. Kohanski, Peter H. Hwang, Christopher H. Le, Jivianne T. Lee, Jayakar V. Nayak, James N. Palmer, Zara M. Patel, Carlos D. Pinheiro‐Neto, Adam C. Resnick, Timothy L. Smith, Carl H. Snyderman, Maie A. St John, Phillip B. Storm, Jeffrey D. Suh, Marilene B. Wang, Eric W. Wang, Edward C. Kuan   +35 more
wiley   +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Hepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims 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.
Shannon M. Vandriel, Li‐Ting Li, Huiyu She, Jian‐She Wang, Melissa A. Gilbert, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz‐Miedzińska, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Nancy B. Spinner, Kathleen M. Loomes, David A. Piccoli, Lorenzo D'Antiga, Emanuele Nicastro, Étienne Sokal, Tanguy Demaret, Noelle H. Ebel, Jeffrey A. Feinstein, Rima Fawaz, Silvia Nastasio, Florence Lacaille, Dominique Debray, Henrik Arnell, Björn Fischler, Susan Siew, Michael Stormon, Saul J. Karpen, Rene Romero, Kyung Mo Kim, Woo Yim Baek, Winita Hardikar, Sahana Shankar, Amin J. Roberts, Helen M. Evans, M. Kyle Jensen, Marianne Kavan, Shikha S. Sundaram, Alexander Chaidez, Palaniswamy Karthikeyan, Maria Camila Sanchez, Maria Lorena Cavalieri, Henkjan J. Verkade, Way Seah Lee, James E. Squires, Christina Hajinicolaou, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Catherine Larson‐Nath, Yael Mozer‐Glassberg, Cigdem Arikan, Henry C. Lin, Jesus Quintero Bernabeu, Seema Alam, Deirdre A. Kelly, Elisa Carvalho, Cristina Targa Ferreira, Giuseppe Indolfi, Ruben E. Quiros‐Tejeira, Pinar Bulut, Pier Luigi Calvo, Zerrin Önal, Pamela L. Valentino, Dev M. Desai, John Eshun, Maria Rogalidou, Antal Dezsőfi, Sabina Wiecek, Gabriella Nebbia, Raquel Borges Pinto, Victorien M. Wolters, María Legarda Tamara, Andréanne N. Zizzo, Jennifer Garcia, Kathleen Schwarz, Marisa Beretta, Thomas Damgaard Sandahl, Carolina Jimenez‐Rivera, Nanda Kerkar, Jernej Brecelj, Quais Mujawar, Nathalie Rock, Cristina Molera Busoms, Wikrom Karnsakul, Eberhard Lurz, Ermelinda Santos‐Silva, Niviann Blondet, Luis Bujanda, Uzma Shah, Richard J. Thompson, Bettina E. Hansen, Binita M. Kamath, The Global ALagille Alliance (GALA) Study Group   +93 more
wiley   +1 more source

Обзор заседания совета экспертов по специальности «Детская гастроэнтерология и нутрициология»

Zdorovʹe Rebenka, 2015
В статье приведен обзор заседания совета экспертов по специальности «Детская гастроэнтерология и нутрициология», которое состоялось 28–29 ноября 2015 года в г. Трускавец, а также представлена резолюция, утвержденная на совещании.
O.S. Niankovska
doaj   +1 more source

Not All Children with Cystic Fibrosis Have Abnormal Esophageal Neutralization during Chemical Clearance of Acid Reflux. [PDF]

, 2017
PurposeAcid neutralization during chemical clearance is significantly prolonged in children with cystic fibrosis, compared to symptomatic children without cystic fibrosis.
Di Lorenzo, Carlo, Hayes, Don, Jadcherla, Sudarshan R, Kaul, Ajay, Kopp, Benjamin T, Machado, Rodrigo Strehl, Moore-Clingenpeel, Melissa, Mousa, Hayat, Nemastil, Christopher J, Woodley, Frederick W   +9 more
core   +3 more sources

Persistent Eosinophilic Inflammation Is Not a Feature of Type 2 CRS Patients Failing Anti‐IL‐5R Therapy and Requiring Class Switching to Anti‐IL‐4/13

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Type 2 inflammation dominates eosinophilic chronic rhinosinusitis (eCRS) and adult onset asthma. IL‐4, ‐5, and ‐13 are prominent disease mediators. Disease control can be achieved with biologic therapies. However, despite some patients entering remission, others experience poor control. Aim We aimed to describe eCRS patients treated
Peta‐Lee Sacks, Christian M Meerwein, Peter Earls, Cedric Thiel, Christine Choy, Raewyn G Campbell, Raymond Sacks, Larry Kalish, Richard J Harvey   +8 more
wiley   +1 more source

Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis

Hepatology, EarlyView., 2022
Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis. Abstract Background and Aims Nucleotide‐binding oligomerization domain‐like receptor‐family pyrin domain‐containing 3 (NLRP3) inflammasome activation has been shown to result in liver fibrosis.
Jana Knorr, Benedikt Kaufmann, Maria Eugenia Inzaugarat, Theresa Maria Holtmann, Lukas Geisler, Jana Hundertmark, Marlene Sophia Kohlhepp, Laela M. Boosheri, Daisy R. Chilin‐Fuentes, Amanda Birmingham, Kathleen M. Fisch, Joel D. Schilling, Sven H. Loosen, Christian Trautwein, Christoph Roderburg, Münevver Demir, Frank Tacke, Hal M. Hoffman, Ariel E. Feldstein, Alexander Wree   +19 more
wiley   +1 more source

New insights in pediatrics in 2021: choices in allergy and immunology, critical care, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, neurology, nutrition, palliative care, respiratory tract illnesses and telemedicine

Italian Journal of Pediatrics, 2022
In this review, we report the developments across pediatric subspecialties that have been published in the Italian Journal of Pediatrics in 2021. We highlight advances in allergy and immunology, critical care, endocrinology, gastroenterology, genetics ...
Carlo Caffarelli, Francesca Santamaria, Ettore Piro, Simona Basilicata, Valeria Delle Cave, Marilena Cipullo, Sergio Bernasconi, Giovanni Corsello   +7 more
doaj   +1 more source