A National Survey on Congenital Hypothyroidism Newborn Screening in Pakistan.

. Congenital hypothyroidism (CH) is a treatable condition with a good outcome if diagnosed promptly. However, neonatal screening programs are not routinely available in developing countries in Pakistan.

Diabetes and mutation; are they really linked together?

Objectives: We are reporting a rare case series of 2 siblings and their mother with diabetes having a gene mutation.

Case Presentation: Two female siblings, presented with incidental hyperglycemia at the ages of 16 and 13. They had a strong family history of diabetes on the maternal side.

Prevalence of rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan.

The glucokinase regulatory protein (GCKR) regulates glycogen metabolism and insulin secretion, and the rs1260326 is a putative single nucleotide polymorphism (SNP) associated with metabolic disorders including nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM). This study was conducted to investigate the genetic association of the rs1260326 in NAFLD and T2DM in our population. NAFLD ( = 103), T2DM ( = 100), and control ( = 100) samples were collected and genotyped for rs1260326 by tetra-arm PCR.

FREQUENCY OF SPLENOMEGALY IN DENGUE FEVER IN CHILDREN.

Background: Dengue Fever is caused by arthropod born viruses. According to World Health Organization approximately 50-100 million infections of dengue fever occur yearly. Objective of this study was to determine the frequency of splenomegaly in dengue fever in children.

Coeliac disease in children presenting with failure to thrive.

Background: Coeliac disease used to be considered as a disease of European and Western population but now it has emerged as a global problem. Objective of this study was to evaluate the frequency and mode of presentation of coeliac disease in children presenting with failure to thrive.

Methods: This cross-sectional descriptive study was conducted at Paediatrics Department of Madina Teaching Hospital in collaboration with Histopathology Department of University Medical and Dental College, Faisalabad over a period from April 2010 to March 2011.