Results 91 to 100 of about 316,235 (202)

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

Clinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Nicolas Pottier, Romain Larrue, Wendy Arondal, Lucie Hanquet, Rania Benrabeh, Olfa Bouyahia, Sonia Mazigh, Yasmina Elaribi, Lamia Benjemaa   +12 more
wiley   +1 more source

Cholestasis in the newborn: experience of a level III Neonatal Intensive Care Unit during 19 years

Journal of Pediatric and Neonatal Individualized Medicine, 2017
Introduction: Neonatal cholestasis is a rare and always pathological condition that must be distinguished from physiologic jaundice of the newborn.
Carolina Carneiro, Susana Pissarra, Filipa Flor-de-Lima, Sandra Costa, Hercília Guimarães   +4 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

Etiological factors of cholestasis in early childhood in Children Welfare Teaching Hospital

مجلة كلية الطب, 2019
: Background: Neonatal cholestasis is defined as prolonged elevation of the serum level of conjugated bilirubin beyond the first 14 days of life.
Mohammad Fadhil Ibraheem
doaj   +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

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  

Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis

Annals of Hepatology, 2016
Background. Diagnosis of progressive familial intrahepatic cholestasis (PFIC) is a challenging matter that involves the summation of clinical, laboratory, radiological, and liver histological parameters; in addition to specific investigations to exclude ...
Mohamed A. El-Guindi, Mostafa M. Sira, Mohsen H. Hussein, Nermine A. Ehsan, Nancy M. Elsheikh   +4 more
doaj   +1 more source

Non‐invasive biomarkers in biliary atresia: A scoping review of fibrosis assessment, translational readiness and clinical implementation gaps

Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Biomarkers are positioned by their highest developmental stage. Most biomarkers remain in exploratory phases, with serum MMP‐7 and elastography showing the greatest translational maturity. This highlights the primary challenge is the transition from biomarker discovery to clinical implementation.
Elizabeth Brits, Stephen Brown, Lezelle Botes, Michael Pienaar   +3 more
wiley   +1 more source

Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races ...
Ajmal Kader, Christina Ong, Veena Logarajah, Kong Boo Phua, Ee Shien Tan   +4 more
doaj   +1 more source

Gallstone formation and hepatobiliary tumour risk: Clinical implications of the bile acid–gut microbiota axis

Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.
1. Irregular dietary patterns (e.g., late breakfast, reduced meal frequency) upregulate the bai gene cluster by disrupting cholecystokinin (CCK) release rhythms and gut microbiota circadian rhythms, leading to increased production of secondary bile acids, particularly DCA. High‐carbohydrate dietary patterns increase gallstone risk (OR = 1.329).
Rui Li, Yong Zhang, Kaishuang Cai, Shaojun Deng, Chaofeng Tan, Yunjie Li, Wenjin Liang   +6 more
wiley   +1 more source