Results 151 to 160 of about 105,725 (272)

Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model

Nature Communications, 2019
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare monogenic disease caused by mutations in the ABCB4 gene, resulting in a reduction in biliary phosphatidylcholine.
N. Weber, L. Odriozola, Javier Martínez-García, Veronica Ferrer, A. Douar, B. Bénichou, G. González-Aseguinolaza, C. Smerdou   +7 more
semanticscholar   +1 more source

Hepatopulmonary syndrome in children and adolescents with portal hypertension in Brazil: A multicenter study

Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 2, Page 366-373, February 2026.
Abstract Objectives To describe the clinical and laboratory characteristics and outcomes of pediatric hepatopulmonary syndrome (HPS) secondary to portal hypertension (PH) in Brazil. Methods Fifty‐four pediatric patients diagnosed with PH and HPS according to the European Respiratory Society criteria were included in this multicenter retrospective study.
Leticia Drumond Alberto, Eleonora Druve Tavares Fagundes, Adriana Teixeira Rodrigues, Thaís Costa Nascentes Queiroz, Gustavo Valverde de Castro, Carlos Oscar Kieling, Sandra Maria Gonçalves Vieira, Natália Lamounier dos Martires Guerra, Natascha Silva Sandy, Gilda Porta, Irene Kazue Miura, Maria Ângela Bellomo Brandão, Gabriel Hessel, Adriana Maria Alves de Tommaso, Alexandre Rodrigues Ferreira   +14 more
wiley   +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

Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis

The Lancet Gastroenterology and Hepatology, 2021
Caroline Ovadia, J. Sajous, Paul Townsend Seed, Kajol Patel, Nicholas J Williamson, G. Attilakos, F. Azzaroli, Y. Bacq, L. Batsry, K. Broom, Romana Brun-Furrer, L. Bull, J. Chambers, Yue Cui, Min Ding, P. Dixon, M. Estiù, F. Gardiner, V. Geenes, M. Grymowicz, B. Günaydın, W. Hague, C. Haslinger, Yayi Hu, U. Indraccolo, A. Juusela, S. Kane, A. Kebapcilar, L. Kebapçılar, K. Kohari, J. Kondrackienė, M. Koster, R. Lee, Xiaohua Liu, A. Locatelli, R. Macías, R. Madazlı, Agata Majewska, K. Maksym, J. Marathe, A. Morton, M. Oudijk, D. Öztekin, M. Peek, A. Shennan, R. Tribe, V. Tripodi, Naciye Türk Özterlemez, T. Vasavan, L. Wong, Y. Yinon, Qianwen Zhang, K. Zloto, H. Marschall, J. Thornton, L. Chappell, C. Williamson   +56 more
semanticscholar   +1 more source

DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report

JPGN Reports, Volume 7, Issue 1, Page 11-13, February 2026.
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies.
Natalia Nedelkopoulou, Kelechi Ugonna, Stephen Hughes, Sanjay Rajwal, Marumbo Mtegha   +4 more
wiley   +1 more source

A rare case of pediatric autoimmune pancreatitis and autoimmune hepatitis in a patient with sickle cell disease

JPGN Reports, Volume 7, Issue 1, Page 142-146, February 2026.
Abstract Concurrent pediatric autoimmune pancreatitis (AIP) and autoimmune hepatitis (AIH) are rarely reported, and no established pediatric‐specific guidelines are available to guide the diagnosis and management of these conditions in children. While AIP and AIH share an underlying autoimmune mechanism of injury, marked by chronic inflammatory changes
Sasha‐Jane Abi‐Aad, Michelle Edward, David Germain, Rene Gomez‐Esquivel, Racha Khalaf   +4 more
wiley   +1 more source

Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports

JPGN Reports, Volume 7, Issue 1, Page 1-5, February 2026.
Abstract Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%–42% of patients, which can lead to liver transplantation.
Geetanjali Bora, Ruben E. Quiros‐Tejeira, Bernadette Vitola   +2 more
wiley   +1 more source

Inflammation and Cancer: Molecular Mechanisms and Therapeutic Targets

MedComm, Volume 7, Issue 2, February 2026.
Chronic inflammation fuels tumorigenesis via “internal drivers” and “external attractions.” Targeting these core mechanisms with combined therapies/novel deliveries enables precise, potent anti‐inflammatory–antitumor treatment. ABSTRACT Inflammation is a core pathological factor regulating tumor initiation, progression, and therapeutic resistance, and ...
Xiaodie Liu, Ziyuan Wang, Huirong Zhu, Yicun Han, Qing Ji   +4 more
wiley   +1 more source

Are Postprandial Bile Acid Levels Helpful in Predicting Perinatal Complications in Patients with Intrahepatic Cholestasis of Pregnancy?

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Purpose: To determine the outcomes of Iintrahepatic cholestasis of pregnancy and the role of postprandial serum bile acid levels in the prediction of perinatal complications.
Kudret Erkenekli, Can Tekin iskender, Hasan Onur Topcu, Tugba Ensari, Dilek Uygur, Nuri Danisman   +5 more
doaj  

Higher Risk of Serious Infection in Offspring of Mothers With Biopsy‐Proven MASLD: A Nationwide Cohort Study

United European Gastroenterology Journal, Volume 14, Issue 1, February 2026.
ABSTRACT Background Metabolic dysfunction‐associated steatotic liver disease (MASLD) has been linked to an increased risk of serious infection, but the impact of in utero exposure to maternal MASLD on the risk of infection in offspring remains unknown.
Carole A. Marxer, Fahim Ebrahimi, David Bergman, Jiangwei Sun, Hannes Hagström, Marcus Thuresson, Olof Stephansson, Jonas F. Ludvigsson   +7 more
wiley   +1 more source