Matsa L.S.,Osmania University |
Sagurthi S.R.,Osmania University |
Ananthapur V.,Institute of Genetics and Hospital for Genetic Diseases |
Nalla S.,CARE Hospitals |
Nallari P.,Osmania University
Gene | Year: 2014
Dilated cardiomyopathy (DCM) is a myocardial disease of unknown etiology with left ventricular dilatation and impaired myocardial contractility leading to heart failure. It is considered to be a multifactorial disorder with the interplay of both genetic and environmental factors. One of the possible genes implicated in DCM is endothelin 1 (EDN1). The genetic variants of EDN1 may be involved in the pathophysiology of DCM hence the entire EDN1 gene was screened to examine for the possible genotypic associations with DCM. A total of 115 DCM patients and 250 control subjects were included in the present study. PCR based SSCP analysis was carried out followed by commercial sequencing. Screening of EDN1 revealed two common and two rare polymorphisms. Allelic and genotypic frequencies were estimated in patient and control groups by appropriate statistical tests. The heterozygotes of insertion variation (+. 138A) were found to exhibit four-fold increase risk to DCM (OR=4.12, 95% CI 2.10-8.08; p=0.0001). The two rare variants (G>A transition (rs150035515) at c.90 and C>T transition (rs149399492) at c.119) observed in the present study were found to be unique in DCM. The secondary mRNA structures of these variations were found to have less free energy than wild type. The haplotype analysis revealed 4A-T to be risk haplotype for DCM (OR 5.90, 95% CI 2.29-15.25, p=0.0001). In conclusion, EDN1 polymorphisms (+. 138A, A30A, T40I) appear to play a significant role in the pathogenesis of DCM, as they influence the stability of protein. The increased EDN1 production may lead to constriction of coronary arteries, reducing coronary blood flow which may in turn increase the load on left ventricle, impairing contractility of the heart resulting in a DCM phenotype, an end stage of heart failure. © 2014 Elsevier B.V.
Singh G.,Dayanand Medical College |
Rajshekhar V.,Christian Medical College |
Murthy J.M.K.,CARE Hospitals |
Prabhakar S.,Jawaharlal Institute of Postgraduate Medical Education & Research |
And 4 more authors.
Neurology | Year: 2010
Background: Solitary cysticercus granuloma (SCG) is one of the most common forms of presentation of neurocysticercosis (NCC). The diagnostic workup and management approach to this condition remain uncertain and controversial. Objective: To review evidence and develop a consensus approach to the diagnosis and treatment of SCG. Methods: A multidisciplinary expert group meeting was convened in order to review and discuss various aspects of management of patients with SCG. Evidence reviewed was classified and a consensus was evolved according to standard protocols. Results: SCG is commonly recognized on CT as an enhancing lesion measuring <20 mm. Further evaluation with MRI does not add much information. The use of antihelminthic agents (specifically, albendazole in combination with corticosteroids) and corticosteroids alone have been shown to improve radiologic resolution and seizure outcome in patients with SCG. However, the sizes of the effects are modest. By convention, all patients with SCG presenting with seizures are initiated on antiepileptic drugs (AEDs). Available evidence suggests that withdrawal of AEDs after complete resolution of the SCG is safe. There is a high risk of seizure relapse after AED withdrawal in patients with calcific residue following resolution of the SCG. The duration of AED prophylaxis in these individuals is unclear. Conclusions: It is desirable to have large, multicenter trials with sufficiently long follow-up, comparing outcomes with the use of antihelminthics with or without corticosteroids and corticosteroids alone in order to dissect out the benefits accrued due to each of these classes of drugs. © 2010 by AAN Enterprises, Inc.
Lingappa L.,Rainbow Hospital for Women and Children |
Varma R.D.,CARE Hospitals |
Siddaiahgari S.,Rainbow Hospital for Women and Children |
Konanki R.,Rainbow Hospital for Women and Children
Developmental Medicine and Child Neurology | Year: 2014
Aims: The objective of this study was to describe a cohort of infants with basal ganglia stroke associated with mineralization in the lenticulostriate arteries and their clinical outcomes. Method: Subcortical strokes occurring in infants during the study period were categorized as arterial ischaemic, venous, or haemorrhagic. A cohort of infants with basal ganglia infarcts and associated mineralization of lenticulostriate arteries were identified. This group was analysed for possible aetiological factors, clinical course, and recurrence rate of the stroke. Results: Of 23 infants with basal ganglia arterial ischaemic stroke, 22 (16 males, six females; mean age 11mo [±SD 4.8mo]) were found to have lenticulostriate artery mineralization. Twenty infants presented with hemiparesis and two presented with recurrent episodes of hemidystonia. Eighteen infants had a history of minor trauma before onset of stroke. No other predisposing factors were identified in this cohort. There were no demonstrable causes for vascular and soft tissue calcification. The mean follow-up was 11 months, during which five infants experienced stroke recurrence. Of the 17 infants who did not experience a recurrent stroke, eight exhibited complete neurological recovery, and nine had mild residual hemiparesis. Interpretation: Acute basal ganglia stroke after minor trauma associated with mineralization of lenticulostriate arteries in infants is a distinct clinicoradiological entity. Investigations for prothrombotic states and vasculopathies are normal. Although neurological outcomes in most children are good, trauma is a risk factor for recurrence of stroke. This article is commented on by deVeber on pages 9-10 of this issue. © 2013 Mac Keith Press.
Kiran V.R.,CARE Hospitals |
Zhu T.Y.,Fudan University |
Yip T.,Dr Lee Iu Cheung Memorial Renal Center |
Lui S.L.,Dr Lee Iu Cheung Memorial Renal Center |
Lo W.K.,Dr Lee Iu Cheung Memorial Renal Center
Peritoneal Dialysis International | Year: 2014
⧫ Background: Obesity increases mortality in the general population, but improves survivalin hemodialysis patients. In peritoneal dialysis (PD) patients, the reported effect is controversial. We investigated the effect of body mass index (BMI) on patient survival in Asian PD patients. ⧫ Methods: The survival of incident Asian PD patients from 2001 to 2008 in a single center in Hong Kong was analyzed retrospectively. Baseline demographic and clinical data were collected from patient records. Patients who had a total Kt/V below 1.7 or who died within 6 months were excluded. The BMI was categorized using the World Health Organization recommendation for Asian populations. ⧫ Results: In the 274 study patients [154 men (56%); 138 with diabetes (50.4%); mean age: 63.4 ± 14.6 years; mean BMI: 21.97 ±3.23 kg/m2; 37 underweight (13.5%); 35 obese (12.8%)], the relative risk (RR) for mortality [adjusted for age, diabetes status, and cardiovascular disease (CVD)] was similar for the normal and overweight groups, but higher for the underweight (RR: 1.909; p = 0.028) and obese groups (RR: 1.799; p = 0.048).The increased mortality in obese patients was more prominent in patients with diabetes (RR: 1.9 vs 1.19 in patients without diabetes; p = 0.074 and 0.76 respectively), and in patients with CVD (RR: 8.895 vs 1.642 in patients without CVD; p = 0.012 and 0.122 respectively). ⧫ Conclusions: In Asian PD patients, the relationship between BMI and mortality was U-shaped, with higher mortality in the underweight and obese patients. The negative impact of obesity was more prominent in patients with diabetes and CVD. Pent DialInt 2014; 34(4):390-398 www.PDIConnect.com epub ahead of print: 04 Feb 2014 doi:10.3747/pdi.2013.00055 © 2014 International Society for Peritoneal Dialysis
Vadapalli S.,Osmania University |
Surekha Rani H.,Osmania University |
Sastry B.K.S.,CARE Hospitals |
Nallari P.,Osmania University
International Journal of Molecular Epidemiology and Genetics | Year: 2010
Idiopathic Pulmonary arterial hypertension (IPAH) is a debilitating disease associated with very poor prognosis. The disease is characterised by endothelial dysfunction, smooth muscle proliferation and insitu thrombosis in the pulmonary artery, eventually leading to right ventricular failure. Two of the key endothelial mediators implicated in the pathogenesis of IPAH are endothelin-1 (EDN1) and nitric oxide (NO). EDN1 is a potent endogenous vasoconstrictor whereas NO is a vasodilator. In the present study screening of the EDN1 gene (EDN1) and NOS3 polymorphisms was taken up, to evaluate their association with IPAH. A significant association of EDN1 3A/4A polymorphism (+138 A; rs10478694) (OR-3.485; CI-1.254, 9.999; p=0.013) and EDN1 Lys198Asn polymorphism (G/T, rs5370) (OR-3.378, CI-1.104, 10.582; p=0.03) with IPAH was observed. Our results indicate that EDN1 polymorphisms in interaction with other genetic markers may play a significant role in individual's susceptibility to the disease and its clinical progression.