Results 171 to 180 of about 183,501 (239)

Prolapsing Gastric Adenoma Causing Intermittent Gastric Outlet and Biliary Obstruction. [PDF]

Gastro Hep Adv
Liu J, Eshaghi F, Hammami MB.
europepmc   +1 more source

AI Powered Biobanks From Static Archives to Dynamic Discovery Engines

Advanced Intelligent Discovery, EarlyView.
Large language models (LLMs) provide a potential framework for transforming biobanks from static data repositories into intelligent discovery engines. By enabling unified representation and analysis of multimodal biomedical data, LLM‐based systems facilitate dynamic risk prediction, biomarker identification, and mechanistic interpretation, thereby ...
Wenzhen Yin, Yutian Feng, Wenrui Ma, Yuxin Su, Li Min, Juan Liu   +5 more
wiley   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

From Guidelines to Practice: Case-Based Teaching Module to Improve MASLD Screening in Diabetes Care for Internal Medicine Residents. [PDF]

MedEdPORTAL
Liu B, Orakwue C, Ryan K, Manolas MI, Kumar S.   +4 more
europepmc   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Fully covered metal biliary stents confer a higher risk of post-endoscopic retrograde cholangiopancreatography pancreatitis. [PDF]

World J Gastrointest Pharmacol Ther
Zhang LY, Tikhe D, Shrigiriwar A, Ermerak G, Lee HH, Sin L, Turner I, Edwards P, Abi-Hanna D, Hourigan L, Kostalas S, Bassan M.   +11 more
europepmc   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Excluding Ascites From the GEMA-Na Score Does Not Impact Outcome Predictions in Liver Transplant Candidates. [PDF]

Liver Int
Rodríguez-Perálvarez ML, Gómez-Orellana AM, Majumdar A, McCaughan GW, Kalafateli M, Taylor R, de la Rosa G, Aguilera MV, Gastaca M, Cepeda-Franco C, Ortiz ML, Colmenero J, Otero A, González Grande R, Cachero A, Molina Pérez E, Barreales M, Martín Mateos R, Rodríguez-Soler M, Romero M, Dopazo C, Alonso Martín C, Otón E, González Diéguez L, Espinosa MD, Arias Milla A, Blanco Fernández G, Lorente S, Cuadrado Lavín A, Sogbe M, Guijo-Rubio D, Hervás Martínez C, Tsochatzis E.   +32 more
europepmc   +1 more source

Effect and Threshold of Endoscopic Findings for CRS Control Status and Long‐Term Outcome Prediction

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background EPOS 2020 defined chronic rhinosinusitis (CRS) disease control using patient symptoms and medication usage but endoscopic findings were considered optional. The effect of adding endoscopic features, an appropriate threshold, and their association with present or future symptom control have not been studied.
Steven Chun‐Kang Liao, Aditi Agarwal, Junqin Bai, Zhidi Luo, Siyuan Dong, Regan L. Harmon, Brooke N. Gleason, Julia Huang, David B. Conley, Kevin C. Welch, Stephanie Shintani‐Smith, Robert C. Kern, Atsushi Kato, Lutfiyya N. Muhammad, Bruce K. Tan   +14 more
wiley   +1 more source