Association of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.

A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.

Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population.

Genome-wide association studies (GWAS) of coronary artery disease (CAD) have revealed multiple genetic risk loci. We assessed the association of 47 genome-wide significant single-nucleotide polymorphisms (SNPs) at 43 CAD loci with coronary stenosis in a Pakistani sample comprising 663 clinically ascertained and angiographically confirmed cases. Genotypes were determined using the iPLEX Gold technology.

Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease.

http://www.regulomedb.org/;https://www.

APOE gene polymorphism and risk of coronary stenosis in Pakistani population.

Genetic variation in lipid regulatory genes, particularly APOE, significantly influences the risk of coronary artery disease (CAD). This study aimed to assess the association between APOE polymorphism and angiographically assessed coronary stenosis in Pakistani population. A total of 695 subjects (22.

Early detection of cardiac dysfunction by BNP in beta-thalassaemia major patients.

Background: Cardiomyopathy is the leading cause of mortality in beta-thalassaemia major (BTM) patients. Brain natriuretic peptide (BNP) has been used for latent cardiac dysfunction in heart patients other than thalassaemic patients. The objective was to determine its role in subclinical detection of iron-induced cardiotoxicity in BTM patients.

Deferiprone challenge test for monitoring iron overload in hepatitis positive thalassemic major patients.

Viral hepatitis is common among beta-thalassemia major (BTM) children in Pakistan. Transfusional iron overload in BTM is usually monitored by serum ferritin. But its levels are falsely raised in viral hepatitis and do not reflect the true iron body burden in thalassemic patients.