Most of the inborn errors of metabolism (IEM) are autosomal recessively inherited and they are more frequent in the countries where consanguineous marriages are commonly practiced. Rarely, more than one IEM are seen in the siblings of one family or in the same sibling. Here we report a patient with both argininosuccinic aciduria (ASA) and methylmalonic acidemia (MMA) and our therapeutic approac...

CONTEXT Although the vast majority of Pakistani women are familiar with family planning methods, use of contraceptives remains low. Identifying the characteristics of family planning providers and health facilities that are associated with women's initiation of contraception may help program administrators devise interventions to increase contraceptive use. METHODS Logistic regression analysi...

conclusions the results demonstrated that the mortality rate was higher in cf patients with a positive family history, a consanguineous marriage, and residence in a rural area. therefore, demographic factors play an important role in the outcome of cystic fibrosis. unfortunately, these parameters, which can be managed easily and with low cost, have been overlooked. patients and methods this was...

congenital hepatic fibrosis (chf) is a developmental disorder of the biliary system, characterized by defective remodeling of the ductal plate. herein a family of three children, from consanguineous parents, with minor thalassemia is presented who suffered from congenital hepatic fibrosis (chf). prompt diagnosis and appropriate treatment are necessary to avoid further complications in the affec...

OBJECTIVE To determine BRCA1 status in breast carcinoma patients of Pakistani origin. STUDY DESIGN Observational study. PLACE AND DURATION OF STUDY The Oncology Clinics of the Aga Khan University Hospital, Karachi, between May 2005 and December 2009. METHODOLOGY Fifty three breast cancer patients based on clinical and laboratory diagnosis were recruited for this study. Moderate family his...

Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...

The effects of consanguineous marriages on couples' fertility and sterility were explored through an interview survey of 20 626 women, chosen randomly from the rural and urban areas of the North Arcot District of Tamil Nadu State. Qualified women investigators obtained relevant information about reproductive performances of all married women resident in well defined rural and urban samples chos...