The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex.

Oxysterol-binding protein-like protein 9 () is a member of a large eukaryotic gene lipid transport protein family that mediates the exchange of sterols and phospholipids between the trans-Golgi network and the endoplasmic reticulum. Denovo missense mutations in the gene have been previously reported to be associated with intellectual disability. Herein, we report for the first time, to the best of our knowledge, a novel homozygous nonsense variant in the gene in a consanguineous family with two fetuses with cerebral ventriculomegaly, cerebellar hypoplasia, and arthrogryposis multiplex.

Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.

Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling.

A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration.

We report the clinical and molecular characterization of a novel biallelic mutation in the gene leading to an autosomal recessive form of childhood onset leukoencephalopathy in a consanguineous family. The female child experienced acute encephalopathy at the age of 2 years, followed by spasticity and loss of all achieved milestones over 6 months. Her elder brother presented with encephalopathy at 4 years of age, with a subsequent loss of all achieved milestones over 8 months.

Molecular genetic studies in isolated growth hormone deficiency (IGHD).

Objective: To screen Isolated Growth Hormone Deficiency (IGHD) patients with congenital Familial Isolated (FIGHD) and Nonfamilial Isolated Growth Hormone Deficiency (NFIGHD) for GH1gene deletions (6.7 kb,7.6 kb,7 kb) and Growth hormone releasing hormone receptor GHRHR(E72X) gene mutation and study genotype/phenotype correlation in this multicentre study.

Serum 17 alpha hydroxyprogesterone in normal full term and preterm vs sick preterm and full term newborns in a tertiary hospital.

Objectives: To determine the variables affecting serum 17 hydroxyprogesterone (17OHP) in neonates born at a tertiary hospital in Mumbai, India.

Methods: Serum 17OHP was measured in peripheral venous blood between 3rd to 5th day of life by competitive radioimmunoassay and on follow up at 3 mo of age. Serum 17OHP was compared among four groups [full term healthy(FT), full term stressed(FS), preterm healthy(PT), preterm stressed(PS)] by non-parametric tests (Kruskal Wallis (KW) test and Mann- Whitney (MW) test).

Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD).

Objective: To detect growth hormone GH-1 gene deletions (6.7 kb, 7.6 kb, 7 kb) in familial/nonfamilial isolated growth hormone deficiency (IGHD) and note their clinical and investigative profile.

Leucine125Valine (Leu125Val) Gene Polymorphism of Platelet Endothelial Cell Adhesion Molecule-1 (PECAM-1) and Myocardial Infarction in Indian Population.

Platelet-endothelial cell adhesion molecule-1 (PECAM-1) has role in atherosclerotic plaque development as well as in thrombosis leading to myocardial infarction (MI). Present study was aimed to analyse the association of PECAM-1 Leu125Val gene polymorphism with MI in Indian population. Subjects included healthy individuals as control (N = 116) and MI patients (N = 100) divided into two groups; MI patients at presentation of the acute event (MI-Group-1, N = 46) and patients with recent event of MI stabilized with treatment 4.

Soluble levels of cell adhesion molecules (CAMs) in coronary artery disease.

Aims: To analyze soluble levels ofcell adhesion molecules (CAM) such as Intercellular CAM (ICAM), vascular CAM (VCAM-1), platelet endothelial CAM (PECAM-1), Endothelial (E)-selectin, and Platelet (P)-selectin in coronary artery disease patients and correlate with degree of severity of the disease.

Methods: Study population included patients who suffered myocardial infarction at presentation (N=49) and those with unstable angina (N=79) and stable angina (N=14). Soluble levels of CAMs were measured by ELISA.

Circulating levels of cell adhesion molecules in hypertension.

Hypertension causes complications such as coronary atherosclerosis and thrombosis wherein inflammatory factors play significant role. In the present study inflammatory molecules such as cell adhesion molecules (CAMs); endothelial (E)-selectin, platelet (P)-selectin, intercellular CAM-1 (ICAM-1), vascular CAM-1 (VCAM-1) and platelet endothelial CAM-1 (PECAM-1) were analysed in subjects newly diagnosed with hypertension with no secondary cause against normotensive healthy individuals. In each group 57 subjects were recruited and soluble (s) levels of CAMs were analysed by ELISA.