Vascular endothelial growth factor/platelet ratio as a potential biomarker for preeclampsia: A study of angiogenic markers in Pakistani patients.

Objectives: To determine the levels of angiogenic biomarkers: vascular endothelial growth factor (VEGF), soluble vascular endothelial growth factor receptor 1 (sVEGFR1 or sFlt-1), platelet count, and the VEGF/platelet ratio in preeclampsia.

Methods: Forty-four cases of preeclampsia and 44 controls were recruited.

Results: The serum VEGF, sVEGFR1, and VEGF/platelet ratio were significantly higher and platelet counts lower in preeclampsia in comparison to controls (VEGF: median = 178 vs.

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes.

Genetic Causes of Oculocutaneous Albinism in Pakistani Population.

Melanin pigment helps protect our body from broad wavelength solar radiation and skin cancer. Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with varying inheritance patterns. Oculocutaneous albinism (OCA), an autosomal recessive nonsyndromic form of albinism, presents as partial to complete loss of melanin in the skin, hair, and iris.

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.

Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are unknown. Recessive eye disorders are frequent in consanguineous populations and such large families with multiple affected individuals provide an opportunity to identify recessive causative genes.

Seroprevalence of transfusion transmitted infections among different blood group donors at Blood Bank LUMHS, Hyderabad.

Objectives: To study the prevalence of HBsAg, Anti-HCV, HIV, Syphilis and Malaria in blood donors.

Methods: This is a cross sectional descriptive study, conducted at Blood bank and Transfusion center at Liaquat University of Medical & Health Sciences (LUMHS) Hyderabad, during the period from January, 2014 to June, 2015. A total of 4683 blood donors were screened for HBsAg, Anti-HCV and HIV on Architect 20001 (manufactured by Abbott), employing chemiluminescent microparticle immunoassay (CMIA).