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. Treatment was focused on addressing the underlying iron deficiency anaemia, resulting in significant improvement in the patient's blood profile and resolution of symptoms. Follow-up assessments demonstrated a complete normalisation of the blood profile and platelet counts, further supporting the efficacy of the treatment. This case highlights the importance of considering reactive thrombocytosis in the context of iron deficiency anaemia and emphasises the favourable response achieved through appropriate management strategies.

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. Suitable descriptive statistics was used for different variables. The genotype frequencies were found to be in Hardy-Weinberg equilibrium for both cases (p > 0.2722) as well as in controls (p > 0.2331). However, genotype (x2: 11.26, 2 d.f. p = 0.0036) and allele distribution (x2: 10.51, 2 d.f. p: 0.0012) of the LEPR Gln223Arg (Q223R; A668G) differed significantly between cases and controls. Gln/Arg genotype (OR = 1.6099; 95% CI = 1.0847-2.3893; p value = 0.0181), Arg/Arg genotype (OR = 2.8121; 95% CI = 1.4103-5.6074; p value = 0.0033) and R allele (OR = 1.5875; 95% CI = 1.1996-2.1008; p value = 0.0012) were significantly associated with increased risk of metabolic syndrome in univariate analysis. Further a multivariate logistic regression adjusted for potential confounders showed that Arg/Arg genotype (OR = 1.9; 95% CI = 1.271-2.639; p-value < 0.05) and Gln/Arg (OR: 1.3; 95% CI = 0.873-2.034; p value < 0.05) have a significant risk for the occurrence of the metabolic syndrome. A progressive increase in the serum leptin levels from major homozygous alleles to minor homozygous alleles were observed indicating that rs1137101 modify the serum leptin concentrations in patients with metabolic syndrome. These findings provide enough evidence of a significant association of LEPR Gln223Arg (Q223R; A668G) polymorphism in the LepR gene in Indian patients with increased risk of metabolic syndrome for R allele and Arg/Arg homozygote. Thus, rs1137101 might be a pleiotropic locus for metabolic syndrome and its components in studied population.

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. Suitable descriptive statistics was used for different variables. The genotype (x2: 8.03, 2 d. f. p = 0.0181) and allele distribution (x2: 7.27, 2 d. f. p: 0.007) of the - 667C > T variant differed significantly in cases and controls, with no deviation from Hardy-Weinberg equilibrium in either affected or control group. The observed frequencies of T allele of PIN-1 - 667 C > T SNP was significantly high in CKD-SHPT group compared to control group (52.41% vs. 41.71%; p: 0.0118). TT variant of PIN-1 - 667C > T SNP was associated with increased risk for occurrence of CKD-SHPT in univariate analysis (OR: 4.6, p: 0.0032, 95% CI: 1.66-12.76). Further in multivariate analysis, both TT (OR: 3.84, p: 0.002, 95% CI: 0.79-9.26) and CT + TT (OR: 2.51, p: 0.031, 95% CI: 0.64-8.68) variants were independently associated with increased risk for CKD-SHPT, emphasizing the deleterious effect of minor T allele. Serum PTH, phosphorus levels were significantly high in CT and TT genotypes compared to CC genotype of PIN-1 - 667C > T SNP (p = 0.001). PIN-1 promoter functional SNP (- 667C > T; rs2233679) appeared to be an important genetic determinant in etiopathogenesis of CKD-SHPT and genetic variants of this SNP influences the risk stratification and might serve as a predictive marker. Thus, rs2233679 can be useful for outcome predictions during diagnostic processes.

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. Suitable descriptive statistics was used for different variables. Result revealed significant heterogeneity under the allele (p: 0.0002) and genotype (p: 0.0001) contrast in hypertensive patients than in normal controls, with an increased frequency of D allele (62.72%; p < 0.0001; OR: 1.8144; 95% CI: 1.4327-2.2979) and DD genotype (41.93%; p: < 0.0001). A significant association was found in the DD variant with disease phenotype (p: 0.0018, 95% CI: 1.3303-3.4907; OR: 2.1549; Table 31) and is substantiated by the data of multivariate analysis, demonstrating a statistically significant increase in odds of hypertension with the ACE D/D genotype (OR: 2.09; 95% CI: 1.24-2.91). Conspicuously, subgroup analysis by gender did not change this pattern of results. Albeit the allele distribution resulted in a higher frequency of the D/D genotype in the cases than controls, testing genetic equilibrium between the observed and expected genotypes using Hardy-Weinberg equilibrium showed ACE gene variants were confirming to the law in hypertensive as well as in non-hypertensive participants. I/D polymorphism in the angiotensin-I-converting enzyme gene at the 16th intron can be useful for outcome predictions during diagnostic processes can be implicated in an individual's propensity for hypertension and thus implies that genetic variants of ACE I/D might serve as a predictor for the susceptibility to hypertension.