A three-week-old boy with Down syndrome presented with poor feeding and jaundice. He had been born at term by normal delivery at home. The pregnancy had been uneventful and the mother had declined antenatal testing so the diagnosis of Down syndrome was made in the postnatal period. The infant required oxygen at birth and was admitted to the neonatal unit for a few days after birth. He started t...

The role of high serum and tissue levels of unconjegated bilirubin in the pathogenesis of the impaired urinary concentrating ability was investigated in homozygous (jj) Gunn rats with the congenital absence of hepatic glucuronyl transferase. Continuous phototherapy with blue fluorescent lights at a wave length of 460 nm or oral cholestyramine feeding or both reduced serum levels of unconjugated...

BACKGROUND Choledochal cyst is a congenital dilatation of the biliary tree. It may affect only the extrahepatic bile duct (type I, II and III), intrahepatic (type V) or both (type IVa). Vater first described choledochal cyst in 1723. Open excision was the standard procedure made a great impact in the treatment but since 1995 Farello et al. first reported laparoscopic choledochal cyst excision a...

Performing a split bilirubin test to identify liver disease in any infant who remains jaundiced beyond 2 weeks of age has been recognised as good clinical practice. The Leeds Community Midwifery Team performed this test, following an agreed protocol, from December 2000. By February 2008, 882 infants had been tested. Three infants were identified as having significant liver disease, including on...

BACKGROUND Some studies suggest that behavioral complications of cholestasis, such as fatigue and pruritus, may be associated with altered neurotransmission in the brain. Because inhaled anesthetics primarily act on ion channels and receptors on the neuronal cell membrane and alter synaptic transmission in the central nervous system, it is possible that altered sensitivity to inhaled anesthetic...

Spectrin, a heterodimer of alpha and beta subunits, is an essential component of the red blood cell membrane skeleton. The jaundiced (ja/ja) mutation causes a severe hemolytic anemia in mice and is mapped to the erythroid beta-spectrin locus (Spnb-1) on chromosome 12. As a prerequisite for determining the molecular defect of the jaundiced mutation, we have cloned and sequenced the complete muri...