Marked reactive thrombocytosis in a female with iron deficiency anaemia.

This case report presents the clinical evaluation and management of a female patient from a rural background who presented with leg pain, headache, weakness and irritability. Initial investigations revealed iron deficiency anaemia accompanied by a significantly elevated platelet count, prompting suspicion of an underlying myeloproliferative neoplastic disorder. However, subsequent genetic testing ruled out these mutations, suggesting a reactive response to iron deficiency anaemia rather than an independent neoplastic process.

Association of the Human Leptin Receptor Gene (rs1137101; Gln223Arg) Polymorphism and Circulating Leptin in Patients with Metabolic Syndrome in the Indian Population.

Phenotypic expression of metabolic syndrome is precipitated by environmental variables along with the individual genetic susceptibility to the obesogenic environment and growing body of evidence suggest a paramount role of adipocytokines. Therefore, identifying the genetic influence on circulation leptin levels and clarifying genotype-phenotype correlation of rs1137101 {Leptin receptor gene (LEPR) Gln223Arg (Q223R; A668G)} in metabolic syndrome were the primary objective of this study. A total of 447 adult participants, including 214 metabolic syndrome patients and 233 healthy controls, were genotyped using polymerase chain reaction-restriction fragment length polymorphism method to unravel the effects of genetic risk loci {Leptin receptor gene; Gln223Arg (Q223R; A668G); rs1137101} on the occurrence of metabolic syndrome in consort with circulation leptin levels.

A Molecular Insight of the Role of PIN-1 Promoter Polymorphism (- 667C > T; rs2233679) in Chronic Kidney Disease Patients with Secondary Hyperparathyroidism.

Murine studies stipulate Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 (PIN-1) as a key mediator of PTH mRNA stability and is acknowledged by genome-wide-association-studies as secondary hyperparathyroidism defining trait in chronic kidney disease. Therefore, we hypothesize that molecular variants of the PIN-1 gene might affect the incidence and predisposition to secondary hyperparathyroidism in chronic renal insufficiency. A total of 281 adult participants, including 124 chronic kidney disease patients with secondary hyperparathyroidism and 157 healthy controls, were genotyped using polymerase chain reaction-restriction fragment length polymorphism method to unravel the effects of genetic risk loci (PIN-1 gene; - 667C > T; rs2233679) on the susceptibility to secondary hyperparathyroidism in chronic kidney disease.

Analysis of the Pattern, Alliance and Risk of rs1799752 (ACE I/D Polymorphism) with Essential Hypertension.

Studies in spontaneously hypertensive rat had revealed an elevated level of ACE gene expression in the tissues and is substantiated by experimental clinical studies for a positive correlation between ACE I/D polymorphism and hypertension. Aim: To determine whether the polymorphic variant of ACE gene in intron 16 confers susceptibility to essential hypertension. I/D polymorphism at the locus intron 16 of the ACE gene were amplified from the genomic DNA of the total 571 (hypertensive patients, n: 279; controls, n: 292) participants using polymerase chain reaction and gel electrophoresis methods and were examined in a case-control approach.