Results 101 to 110 of about 51,796 (192)

Risk Factors for Peritonitis Associated With Endoscopic Ultrasound‐guided Hepaticogastrostomy

DEN Open, Volume 7, Issue 1, April 2027.
ABSTRACT Background and Objectives Endoscopic ultrasound‐guided hepaticogastrostomy (EUS‐HGS) is an alternative therapeutic option for unsuccessful endoscopic retrograde cholangiopancreatography in patients with malignant biliary obstruction.
Junya Sato, Hirotoshi Ishiwatari, Hiroki Sakamoto, Takuya Doi, Masahiro Yamamura, Kazunori Takada, Masao Yoshida, Sayo Ito, Noboru Kawata, Kenichiro Imai, Kinichi Hotta, Hiroyuki Ono   +11 more
wiley   +1 more source

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

PLoS ONE, 2015
Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci   +5 more
doaj   +1 more source

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Mouna Zribi, Mariem Bhouri, Safa Khatrouch, Hela Boudabous, Johannes Häberle, Mohamed Slim Abdelmoula, Amel Ben Chehida   +6 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

Intermediate familial intrahepatic cholestasis: phenotypic spectrum within the BRIC-PFIC spectum

, 2015
In genetic hepatocellular cholestasis, among the spectrum going from benign recurrent intrahepatic cholestasis (BRIC) and profressive familial intrahepatic cholestasis, intermediate phenotypes ...
Nobili, V, Boldrini, R, Francalanci, P., De Ville de Goyet, J, Torre, G, Callea, F, Belacchio, E, MAGGIORE, GIUSEPPE, Giovannoni, I   +8 more
core   +1 more source

Progressive familial intrahepatic cholestasis type 4: a case report

Journal of Medical Case Reports
Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb   +6 more
doaj   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, Volume 78, Issue 10, Page 1510-1521, October 2026.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT In an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted nutritional treatment and rapid clinical improvement.
Julien Neveu, Mathilde Butori, Anne Spraul, Charlotte Hinault‐Boyer, Mourad Naïmi   +4 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

Benign recurrent intrahepatic cholestasis. A report of 26 cases.

, 1989
Benign recurrent intrahepatic cholestasis is characterized by attacks of cholestasis. The purpose of our study of 26 patients was to emphasize some features uncommonly or never reported in this disease: (a) in each patient, the attacks of cholestasis ...
Benhamou, J P, Geubel, André, Brenard, R.   +2 more
core   +1 more source