Results 111 to 120 of about 34,162 (209)

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Elena Martín‐Hernández, Delia Barrio‐Carreras, María Martín‐Cazaña, Luis Miguel García‐Cárdaba, Carmen Martín‐Fernández, Patricia Pérez‐Mohand, Teresa Hernández Chamorro, Berta Zamora Crespo, Pedro Ruiz‐Sala, Patricia Alcaide Alonso, Pilar Quijada‐Fraile   +10 more
wiley   +1 more source

PSC‐DM: A Validated Clinical Diagnostic Model for Distinguishing Primary From Secondary Sclerosing Cholangitis

Liver International, Volume 46, Issue 11, November 2026.
ABSTRACT Background and Aims Primary sclerosing cholangitis (PSC) is a rare, progressive cholangiopathy for which diagnosis remains challenging because of the absence of disease‐specific markers and the presence of secondary causes of sclerosing cholangitis (SSC) that closely mimic its clinical presentation. Diagnostic uncertainty can delay appropriate
Miki Scaravaglio, Rodrigo V. Motta, Laura Cristoferi, Cesare Maino, Alberto Marini, Eugenia Nofit, Eugenia Pesatori, Camilla Gallo, Francesca Bolis, Daphne D'Amato, Armando Curto, Federica Malinverno, Alessio Gerussi, Raffaella Viganò, Mauro Viganò, Stephen J. Rossi, Kris V. Kowdley, Pietro Invernizzi, Alessandra Nardi, Marco Carbone, Emma L. Culver   +20 more
wiley   +1 more source

Risk of Gallstones Increases with Multiple Dimensions of Obesity Indexes: A Prospective Study Based on the UK Biobank

Obesity Facts
Introduction: Numerous cohort studies have consistently shown a significant link between obesity and an increased risk of gallstones. However, body mass index (BMI) alone may not fully capture the complexity of obesity.
Jin Zhou, Wenqian Yu, Guoheng Jiang, Hongyu Li, Jing Luo, Shiyi Li, Linjun Xie, Xuan Bai, Jing Xia, Min Mao, Min Gao, Jiong Lu, Xin Wang   +12 more
doaj   +1 more source

Chronic Granulomatous Peritonitis From Recurrent Bilateral Ovarian Mature Cystic Teratomas Masquerade as Peritoneal Carcinomatosis

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Although rare, ruptured mature cystic teratoma (MCT) can cause chronic granulomatous peritonitis that mimics peritoneal carcinomatosis. In patients with a history of cystectomy for MCT, careful clinicoradiologic and histopathologic correlation is essential to avoid misdiagnosis and unnecessary aggressive treatment.
Zohre Sadeghian, Joel Cardenas, Kirill Lyapichev, Albert Parlade, Elvia Goez‐Gutierrez, Amir Behdad, Esther Yoon   +6 more
wiley   +1 more source

Low Phospholipid‐Associated Cholelithiasis in a Mother–Son Pair Associated With a Novel ABCB4 Frameshift Variant

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Low phospholipid‐associated cholelithiasis (LPAC) syndrome is a rare inherited disorder caused by ABCB4 mutations with heterogeneous manifestations. We describe two LPAC cases in a mother–son pair, detailing their clinical presentations, diagnostic evaluations, and management. A novel ABCB4 frameshift variant (c.715_716insTT; p.Ser239PhefsTer9)
Hui‐Ming Yang, Jun Liu, Zheng Zhang
wiley   +1 more source

Dorsal Pancreatic Agenesis Associated With New‐Onset Diabetes Mellitus and Acute Pancreatitis in an 18‐Year‐Old Man: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Dorsal pancreatic agenesis (DPA) is a rare congenital disorder resulting from failure of development of the dorsal pancreatic bud. Complete DPA implies absence of the pancreatic neck, body, and tail and can be associated with both diabetes mellitus and pancreatitis. The patient was an 18‐year‐old man admitted with a history of epigastric pain,
Mugheesa Rab, Muhammad Hassaan Javaid, Rabia Narmeen Numani, Fozia Khanam, Muddassir Khalid, Fred Segawa   +5 more
wiley   +1 more source

Hypertriglyceridemic Acute Pancreatitis With Concomitant Retrocecal Appendicitis: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Hypertriglyceridemia‐induced acute pancreatitis and acute appendicitis are distinct clinical conditions rarely reported to occur concurrently. We present a case of hypertriglyceridemia‐induced pancreatitis characterized by clinical deterioration despite a decline in serum triglyceride levels.
Mansoureh Shekarchizadeh Esfahani, Masood Shekarchizadeh, Seyed Amirhossein Dormiani Tabatabaei, Mehrnazsadat Dormiani Tabatabaei   +3 more
wiley   +1 more source

Cholecystoduodenal Fistula, Gallstone Ileus, and Choledocholithiasis: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Prompt diagnosis using CT is critical in gallstone ileus, as symptoms are often nonspecific. A combined surgical approach—comprising enterolithotomy, cholecystectomy, and fistula repair—effectively addresses both the obstruction and its underlying source, achieving favorable outcomes even in complex presentations.
Jiaxu Ji, Yongping Huang, Dejun Tang, Wubulikasimu Wulamu   +3 more
wiley   +1 more source

The association between vitamin D consumption and gallstones in US adults: A cross-sectional study from the national health and nutrition examination survey

Journal of the Formosan Medical Association
Background: Gallstone disease is common in the US and Europe. Gallstones are associated with factors such as age, sex, weight, and serum cholesterol levels. A complex relationship exists between vitamin D levels and cholesterol metabolism.
Chuxuan Bin, Chuan Zhang
doaj   +1 more source

Abdominal Pain as the First Presentation of Severe Heart Failure With Reduced Ejection Fraction and Left Ventricular Thrombus in a Young Asymptomatic Patient: A Diagnostic Interception

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT A young, physically active patient with no cardiac symptoms presented with abdominal pain and was found, through incidental findings of elevated BNP, cardiomegaly, and new ECG changes, to have severe HFrEF with a left ventricular apical thrombus. Early cardiac evaluation changed management and led to complete thrombus resolution.
Maryam Othman Alarfaj, Bashayr Saleh Alsuwailem, Meataz Khaled Aljeezan, Baker Saud Alhlibi, Mubarak Maher Bu Haya, Abdulatif Adel Alnaaim, Muneera O. AlTaweel   +6 more
wiley   +1 more source