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Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency.
Front Pediatr
January 2025
Department of Gastroenterology, Kunming Children's Hospital, Kunming, China.
Background: The diagnostic criteria of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) have not been established due to non-specific clinical manifestations, and our understanding on the treatment outcome is still limited. We aim to investigate the biochemical characteristics, genetic variants, and treatment outcome of NICCD patients.
Methods: We compared the nutritional status and biochemical characteristics of 55 NICCD infants and 27 idiopathic neonatal cholestasis (INC) infants.
From chelation to transplantation: lessons from a progressive familial intrahepatic cholestasis type 3 case initially managed as Wilson's disease.
Gastroenterol Rep (Oxf)
January 2025
Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Progressive Familial Intrahepatic Cholestasis Type 2 in an Infant: Diagnostic Challenges and Multidisciplinary Management.
Cureus
December 2024
Internal Medicine, Nishtar Medical University, Multan, PAK.
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare genetic disorder characterized by severe intrahepatic cholestasis, which often manifests in infancy with progressive liver dysfunction. We present the case of a 3-month-old infant with a one-month history of jaundice, vomiting, and bloody stools, presenting a unique set of diagnostic challenges. Initial clinical and laboratory findings indicated significant liver dysfunction, prompting further imaging and genetic analysis.
View Article and Find Full Text PDFAssociation between ABCB4 variants and intrahepatic cholestasis of pregnancy.
Sci Rep
January 2025
Department of Gynecology and Obstetrics, Yijishan Hospital of Wannan Medical College, Wuhu, Anhui, People's Republic of China.
The ABCB4 gene encodes multidrug resistance protein 3(MDR3), which is a phosphatidylcholine(PC) transfer enzyme that transfers lecithin from the inner part of the phospholipid bilayer to the extracellular bile. The occurrence of intrahepatic cholestasis of pregnancy(ICP) is closely related to ABCB4 variants, but there is limited research on this topic in southern Anhui, China. We sequenced ABCB4 in pregnant women with ICP and healthy pregnant women to explore the relationship.
View Article and Find Full Text PDFDiagnostic Value of Neutrophil-to-Lymphocyte Ratio (NLR) in Intrahepatic Cholestasis of Pregnancy.
Br J Hosp Med (Lond)
January 2025
Department of Obstetrics, Beilun District People's Hospital, Ningbo, Zhejiang, China.
Intrahepatic cholestasis of pregnancy (ICP) is associated with adverse perinatal outcomes, yet the correlation between ICP and the neutrophil-to-lymphocyte ratio (NLR) remains unclear. This study aims to investigate the diagnostic value of NLR in ICP. In this retrospective case-control study, 113 patients with ICP treated in Beilun District People's Hospital from January 2020 to December 2022 were recruited and categorized as the ICP group, and 209 healthy pregnant women treated during the same period were selected as the control group.
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