Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy specific liver disorder characterized by maternal pruritus in the latter half of the pregnancy, raised serum bile acids and increased rates of adverse fetal outcomes. Maternal effects of ICP are mild; however, there is a clear association between ICP and higher frequency of fetal distress, preterm delivery, and sudden intrauterin fetal ...

Objective: To report the mutational landscape of a clinically diagnosed cohort paediatric patients with cholestasis liver diseases. Method: The retrospective study was conducted at University Child Health Sciences, Children Hospital, Lahore, Pakistan, from December 10, 2021, to March 31, 2022, and comprised data collected Paediatric Gastroenterology Hepatology unit on demographics, clinical lab...

BACKGROUND Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.7% of pregnancies in the UK and is associated with prematurity, fetal distress, and intrauterine death. Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholesta...

Progressive familial intrahepatic cholestasis (PFIC or Byler disease) is a rare autosomal recessive form of severe and fatal cholestatic liver disease. A locus for PFIC has recently been mapped to chromosome 18q21-q22 in the original Byler pedigree. This region harbours the locus for a related phenotype, benign recurrent intrahepatic cholestasis (BRIC), suggesting that these traits are allelic....

Obstructive jaundice in the first months of life is a fairly frequent phenomenon. Approximately twothirds of these infants have atresia of the hepatic ducts, and about two-thirds of the remaining can be classified as 'neonatal hepatitis', 'giant cell hepatitis', or 'thick bile syndrome' (Craig and Landing, 1952; de Toni and Romano, 1962; Gellis, 1961). 'Thick bile syndrome' is defined as 'neona...

Congenital hypopituitarism is a rare condition associated with possible serious complications and long-term neurological sequelae, if not promptly recognized and treated.1 Neonates with congenital hypopituitarism may present with or without associated developmental defects, such as ocular, midline, and genital abnormalities. They may also present with nonspecific symptoms, including hypoglycemi...

Twice in January 2003 we treated a 66-year-old man for recurrent severe bleeding from a duodenal ulcer by endoscopic injection of polidocanol. After the second intervention, he suffered acute but mild pancreatitis. One year later, he presented with abdominal pain in the right upper quadrant and intermittent cholestasis. The cholangio-MRI showed cholecystolithiasis and stenosis of the CBD and wa...