Results 21 to 30 of about 105,725 (272)
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction.
C. Molera +13 more
semanticscholar +1 more source
Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report
Infantile cholestasis is a common clinical problem in early infancy characterised by impairment in bile formation and/or flow. It requires prompt evaluation for underlying aetiology to initiate appropriate management.
Muna Khanal +2 more
doaj +1 more source
Alterations of the Human Gut Microbiota in Intrahepatic Cholestasis of Pregnancy
Background and Aims Women with severe intrahepatic cholestasis of pregnancy (ICP) are at higher risks of fetal complications and without effective treatments.
Qitao Zhan +8 more
semanticscholar +1 more source
Dengue fever as a potential cause of sickle cell intrahepatic cholestasis: A report of two cases
Sickle cell intrahepatic cholestasis is a potentially fatal syndrome characterized by jaundice, painful hepatomegaly, and organ dysfunction. Two cases of sickle cell intrahepatic cholestasis associated with dengue fever were described. Endothelial damage/
Leonardo Rodrigues de Oliveira +5 more
doaj +1 more source
Intrahepatic cholestasis of pregnancy: risk factors for severe disease
Introduction Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-associated hepatic disorder characterized by pruritus in the setting of elevated serum bile acids (BA).
S. Mashburn +5 more
semanticscholar +1 more source
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations [PDF]
The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis.
Anapaz, V +7 more
core +1 more source
Increasing evidence suggests that human cholestasis is closely associated with the accumulation and activation of hepatic macrophages. Research indicates that activation of PPARγ exerts liver protective effects in cholestatic liver disease (CLD ...
Jiaqing Xiang +10 more
semanticscholar +1 more source
Benign Recurrent Intrahepatic Cholestasis in Pregnancy: Fetal Death at 36 Weeks of Gestation
Introduction. Benign recurrent intrahepatic cholestasis is a rare hepatologic disorder characterized by recurrent, self-limited episodes of severe pruritus, jaundice, and elevated bile acids.
Mariam Ayyash +4 more
doaj +1 more source
Liver Transplantation for Alagille's Syndrome [PDF]
Twenty-three children with Alagille's syndrome and end-stage liver disease underwent liver transplantation with cyclosporine and low-dose steroid immunosuppression. Two to 9 years (mean, 4.4 years) after surgery, 13 (57%) of the children were still alive,
Reyes, J +5 more
core +1 more source
Intrahepatic Cholestasis of Pregnancy: Natural History and Current Management
Intrahepatic cholestasis of pregnancy (ICP) is a common disorder in the second half of pregnancy characterized by pruritus and elevated serum bile acids (BAs) with spontaneous resolution after delivery.
Rebecca Roediger, J. Fleckenstein
semanticscholar +1 more source

