Repeatability and Reliability of Home-Based Stool Color Card Screening for Biliary Atresia Based on Results in China and Japan.

Biliary atresia (BA) is the most frequent hepatic cause of death in early childhood. Early referral and timely Kasai portoenterostomy are essential for the improvement of long-term native liver survival rate of BA patients. Screening with stool color card (SCC) has been implemented in Japan since 1994.

Prevalence of selected disorders of inborn errors of metabolism in suspected cases at a tertiary care hospital in Karachi.

Objective: To study the prevalence of selected disorders of inborn errors of metabolism at a tertiary care hospital in Karachi by performing selective screening of high risk clinically suspected individuals.

Methods: Cross sectional comparative study, was done at the Paediatric Endocrine Unit 2 of National Institute of Child Health Karachi in collaboration with Sapporo City Institute of Public Health, Japan. Sixty-two children age < 1 month-10 years meeting the inclusion criteria (Undiagnosed family history of similar illness or deaths, history of recurrent episodes of severe or persistent vomiting for which no infection or surgical cause was found and history of undiagnosed neurological symptoms and developmental delay) were enrolled in the study.

Spondylocostal dysostosis associated with methylmalonic aciduria.

Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism.