The Utility of CSF Xpert MTB/RIF in Diagnosis of Tubercular Meningitis in Children.

OBJECTIVE: To determine the utility of CSF Xpert MTB/RIF (GeneXpert) in diagnosis of tubercular meningitis in children in the age group of 2 mo to 12 y. METHODS: This hospital based prospective observational study was conducted at Department of Pediatrics, Karnataka Institute of Medical Sciences (KIMS), Hubli from December 2015 through November 2016. All children with clinically suspected tuberculous meningitis (TBM) were included in the study. These children underwent a detailed history taking, clinical examination, blood investigations, lumbar puncture and CT brain. Cerebrospinal fluid (CSF) samples were sent for CSF GeneXpert examination. Statistical analysis was done using IBM SPSS Statistics Version 20. RESULTS: A total of 28 children were enrolled in the study. Six (21.4%), 4 (14.3%) and 18 (64.3%) cases were definite, probable and possible TBM cases respectively. Most common age group affected was <5 y (83.33%) with median age 2.5 y (IQR 4.875). Male:female ratio was 1.5:1. CSF GeneXpert was tested positive in 6 cases (21.4%). The sensitivity of the test against the clinical scoring (>/=10) was 46.15% (95% CI, 19.22-74.87) and specificity was 100% (95% CI, 78.20-100). There was a significant association between CSF GeneXpert and Mantoux test (P = 0.002), CSF cell type >50% lymphocytes (P = 0.005) and CSF protein >100 mg/dl (P = 0.025) along with CT hydrocephalus (P = 0.021), granuloma (P = 0.009) and basal exudates (P = 0.025). None of the cases were tested smear positive for acid-fast bacilli (AFB). CONCLUSIONS: CSF GeneXpert is superior to smear for AFB in TBM.

LRP2 gene variants and their haplotypes strongly influence the risk of developing neural tube defects in the fetus: a family-triad study from South India.

Neural tube defects (NTDs) are the leading cause of infant deaths worldwide. Lipoprotein related receptor 2 (LRP2) has been shown to play a crucial role in neural tube development in mouse models. However, the role of LRP2 gene in the development of human NTDs is not yet known. In view of this, family-based triad approach has been followed considering 924 subjects comprising 124 NTD case-parent trios and 184 control-parent trios diagnosed at Institute of Genetics and Hospital for Genetic Diseases, Hyderabad. Blood and tissue samples were genotyped for rs3755166 (-G759A) and rs2544390 (C835T) variants of LRP2 gene for their association with NTDs. Assessment of maternal-paternal genotype incompatibility risk for NTD revealed 3.77-folds risk with a combination of maternal GA and paternal GG genotypes (GAxGG = GA,p < 0.001), while CT genotypes of both the parents showed 4.19-folds risk for NTDs (CTxCT = CT,p = 0.009). Haplotype analysis revealed significant risk of maternal A-T (OR = 4.48,p < 0.001) and paternal G-T haplotypes (OR = 5.22,p < 0.001) for NTD development. Further, linkage analysis for parent-of-origin effects (POE) also revealed significant transmission of maternal 'A' allele (OR = 2.33,p = 0.028) and paternal 'T' allele (OR = 6.00,p = 0.016) to NTDs. Analysis of serum folate and active-B12 levels revealed significant association with LRP2 gene variants in the causation of NTDs. In conclusion, the present family-based triad study provides the first report on association of LRP2 gene variants with human NTDs.

Association of serum uric acid level with ischemic stroke, stroke subtypes and clinical outcome

Background and Objective: Uric acid is a neuroprotective agent. However, its relationship with ischaemic stroke remains controversial. We analyzed the association between serum uric acid and ischemic stroke and clinical outcome. Methods: The study subject consisted of 550 ischemic stroke patients from the Nizam’s Institute of Health Sciences, Hyderabad, India with 550 matched healthy controls. Serum uric acid levels were estimated, and follow-up interviews conducted with patients. Results: There was a significant association of elevated levels of serum uric acid with stroke and its subtypes except lacunar stroke. Patients with high serum uric acid levels had a significant increased risk of poor outcome. Conclusion: Serum uric acid level is associated with ischemic stroke, and is an independent prognostic factor of poor outcome.

Angiotensin-converting enzyme gene variant and its levels: risk factors for myocardial infarction in a South Indian population

<p><b>INTRODUCTION</b>Recently, there has been increasing evidence that genetic variation in the angiotensin-converting enzyme (ACE) plays an important role in myocardial infarction. Therefore, the present study was carried out with the aim of investigating the association of the ACE gene insertion/deletion (I /D) polymorphism and its levels in myocardial infarction patients and their first-degree relatives (FDRs).</p><p><b>METHODS</b>206 patients with myocardial infarction, 168 FDRs and 210 control subjects were enrolled in the study. ACE I /D polymorphism was determined using the polymerase chain reaction method. Serum ACE levels were measured using the photometric method.</p><p><b>RESULTS</b>The DD genotype and ACE activity were significantly higher in patients (p-value is 0.00006 and 0.0001, respectively) and FDRs (p-value is 0.003 and 0.04, respectively) compared with the controls.</p><p><b>CONCLUSION</b>ACE DD genotype and ACE levels are important risk factors for myocardial infarction. This study indicates that the higher frequency of the DD genotype and ACE levels observed in FDRs may increase susceptibility to developing myocardial infarction.</p>