Identification of a Novel Variant in Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia.

A 21-year-old patient presented with a previous medical history of pallor, mild icterus, increased fatigue, low hemoglobin, and abnormal hemoglobin variant analysis with more than 70 transfusions. He was referred for genetic analysis to identify the pathogenic variations in the β-globin gene. Sanger's sequencing of the proband and his family revealed the presence of a novel frame shift variant in a compound heterozygous state with hemoglobin E (HbE) variant.

An analysis on potential renewable energy system using triangular tile pasting as a Markov Chain in terms of Maximal Clique.

Transformation is an art of wavering chattels from one location to the other location or one zone to the other zone or one pattern to the other pattern. Designing any regular or irregular polygonal structures especially in tile pasting plays decisive portrayal of procreation. Tile pasting is a technique of gluing tiles in sequence of specific nature, and subsidize collection of structures to the constructors.

Establishment and characterization of induced pluripotent stem cell line (IGIBi002-A) from a β-thalassemia patient with IVS1-5 mutation by non-integrating reprogramming approach.

β-thalassemia (BT) is a hereditary blood disorder caused by mutations in the β-globin (HBB) gene leading to severely reduced or no synthesis of the β-chain of adult hemoglobin. IVS1-5 (G > C) is the most common BT mutation in Indian population and yet no patient-specific cellular models have been generated. Here, we have established an induced pluripotent stem cell (iPSC) line, IGIBi002-A from a thalassemia patient with a homozygous IVS1-5(G > C) mutation.

Dosimetric Effect of Rotational Setup Errors in Single-Isocenter Volumetric-Modulated Arc Therapy of Multiple Brain Metastases.

Aim: The aim of this study is to investigate the dosimetric effects of rotational uncertainties in patient positioning on target coverage in stereotactic radiosurgery (SRS) of multiple brain metastases using single isocenter volumetric modulated arc therapy (VMAT).

Materials And Methods: Ten SRS cases with multiple brain metastases (2-8) planned with single isocenter non-coplanar VMAT technique were investigated in this study. Pitch, yaw and roll displacements of 1, 3 and 5° were simulated about isocenter along each axes and nine plans were obtained for each case.

Haplotype association and synergistic effect of human aldosterone synthase (CYP11B2) gene polymorphisms causing susceptibility to essential hypertension in Indian patients.

Background: Aldosterone synthase (CYP11B2) is a key enzyme involved in the terminal steps of aldosterone biosynthesis. Genetic variability in CYP11B2 gene has been associated with heterogeneous aldosterone production, which can affect sodium homeostasis and thereby regulation of blood pressure. Hence, the present study was aimed to explore the single-locus variations, haplotype and epistasis patterns of CYP11B2 (C-344T, intron-2 gene conversion and Lys173Arg) gene polymorphisms, and the risk contributed by them to the development of essential hypertension (EHT).

Mineral bone disease in maintenance hemodialysis patients: Association with morbidity and mortality.

There is a paucity of data on mineral bone disease in maintenance hemodialysis (MHD) patients from India. This retrospective analysis was undertaken on 858 (males: 599; females: 259) patients from two medical centers on MHD from 1998 to 2010. Age, gender, months on dialysis, hours per session of dialysis, hemoglobin, serum calcium, inorganic phosphorus, intact parathyroid hormone (iPTH), urine output, erythropoietin dosage per week, blood sugar, blood pressure, urea reduction rate, gain in fluid and fluid removed per session, serum albumin, alkaline phosphatase, vitamin D level, supplemental vitamin D and use of phosphate binder for therapy were documented.

Risk conferred by tagged SNPs of AGT gene in causing susceptibility to essential hypertension.

Unlabelled: Abstract Introduction: AGT gene harbors several variants of which 21 are found to be in high linkage disequilibrium as per Hapmap database. Studies delineating the importance of these tagged SNPs are very limited and lacking from Indian population. In the present study, we evaluated the contribution of four tagged SNPs namely, g.

Novel variants detected in AGT gene among patients with essential hypertension.

Introduction: AGT is the first gene to be linked to essential hypertension (EHT). It harbors several variants of which only few polymorphisms are found to exhibit positive and negative associations with hypertension. In the present study, the AGT gene was screened to detect already reported and novel variations contributing to the development of hypertension.

Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment.

Mutations in mitochondrial DNA (mtDNA) are one of the most important causes of sensorineural hearing loss, especially in the MT-RNR1 gene. In the present study we have performed mutational screening for m.1555A>G and a region of the MT-RNR1 gene in 303 unrelated patients (including family members of 25 probands) with nonsyndromic hearing loss and 200 controls.

High risk for essential hypertension in males conferred by g.15241A>G polymorphism in intron 3 of AGT gene.

A total of 180 hypertensive and 188 normotensive subjects were studied for demographic features and for variations in exon 4 including exon-intron boundary of AGT gene using single-strand conformation polymorphism analysis. Sequencing of the samples showing mobility shift revealed a single-nucleotide polymorphism variant g.15241A>G in intron 3 of the gene.

Estimation of risk and interaction of single nucleotide polymorphisms at angiotensinogen locus causing susceptibility to essential hypertension: a case control study.

Introduction: The risk conferred by the variants and haplotypes of single nucleotide polymorphisms (SNPs) at human angiotensinogen (AGT) gene to essential hypertension (EHT) have been described in several populations with variations in the results attributed to their ethnicity. We attempted to evaluate the risk of -217G>A, -152G>A, -20A>C, -6G>A, T174M, M235T and 15241A>G polymorphisms at AGT locus along with the analyses of haplotype and epistatic interactions in causing susceptibility to EHT.

Method: Two-hundred and forty-nine hypertensives and 248 controls were genotyped for the selected markers.

Polymorphisms in two DNA repair genes (XPD and XRCC1)--association with age related cataracts.

Purpose: Age related cataract is the leading cause of blindness in the world today. The association between DNA damage to the lens epithelium and the development of lens opacities has been reported in many studies. Polymorphisms of DNA repair enzymes may affect repair efficiency and thereby lead to the development of age related cataract.

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.

Genetically caused deafness is a common trait affecting one in 1000 children and is predominantly inherited in an autosomalrecessive fashion. Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 gene (delGJB6-D13S1830) have been identified worldwide in patients with hearing impairment. In the present study, 303 nonsyndromic hearing-impaired patients (140 familial; 163 sporadic) were examined clinically and screened for mutations in GJB2 and GJB6 genes.

Darier-Roussy Sarcoidosis Mimicking Metastatic Breast Cancer.

Subcutaneous sarcoidosis (also known as 'Darier-Roussy sarcoid') is a cutaneous condition characterized by numerous deep-seated nodules on the trunk and extremities. Coexistence of sarcoidosis and breast cancer are reported in the literature, but there will always be a chance of misdiagnosis. It is very crucial to obtain a tissue diagnosis of suspicious metastatic lesions.

Parathyroid hormone and biochemical profile in chronic kidney disease patients in South India.

Renal osteodystrophy is an important complication of chronic kidney disease characterized by abnormal bone turnover with varied bone histologic changes. Etiology is multifactorial including abnormalities of serum calcium, phosphorus, and 1,25(OH)(2)-vitamin D deficiency; secondary hyperparathyroidism; age; cause of kidney disease; diet; renal replacement therapy; and drug therapy. In addition, there is evidence that there may be ethnic differences.

Continuous ambulatory peritoneal dialysis: Indian scenario.

Chronic peritoneal dialysis (CPD) has been initiated as a treatment modality for chronic renal failure patients in the Indian subcontinent since 1990. Over a period of 9 years both continuous ambulatory peritoneal dialysis (CAPD) and continuous cyclic peritoneal dialysis (CCPD) have emerged as accepted forms of renal replacement therapy in our country. Although there were government restrictions on import of dialysis fluid until 1993, the availability of locally manufactured fluid in collapsible bags had facilitated the expansion of the programme to the far corners of the country and in neighbouring countries.

Continuous ambulatory peritoneal dialysis.

Continuous ambulatory peritoneal dialysis (CAPD) was used as renal replacement therapy in 55 patients for 666 patient months. Thirty five patients had Type II diabetes. They ranged in age from 1-83 years.