102 research outputs found

    Arrhythmogenic right ventricular dysplasia: a rare case report from tribal zone of Central India

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    Arrhythmogenic Right Ventricular Dysplasia (ARVD) is under diagnosed cardiomyopathy which commonly presents in young adults with ventricular tachycardia or sudden death. It is characterized pathologically by progressive fibrofatty replacement of the myocardium, primarily of the right ventricular free wall. Clinically, it presents with life-threatening malignant ventricular arrhythmias which may lead to sudden death, most often in young people and athletes. ARVD/C is difficult to diagnose, although standardized diagnostic criteria have been proposed, based on the presence of major and minor criteria encompassing electrocardiographic, arrhythmic, morphofunctional, histopathologic, and genetic factors

    A rare case of pulmonary lymphangiomatosis from the tribal zone of central India

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    Lymphangiomatosis, a rare disease, occurs in individuals of any age, regardless of gender, but is predominantly seen in younger individuals. It often presents with pulmonary involvement, although, the bones, spleen and liver can also be affected. Histologically, pulmonary involvement includes proliferation, complex anastomoses and secondary dilatation of the lymphatic vessels. Clinically presentation is often variable but pulmonary involvement is affected more common than other involvements. Diagnosis is made histologically but radiologically can suggest diseases. Treatment is only supportive and symptomatic.

    Common causes and trends of hepatocellular carcinoma at regional cancer centre Raipur, India

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    Background: Hepatocellular Carcinoma (HCC) is the most common primary malignancy of the liver and is the third most common cause of cancer related deaths in Asia-pacific region. Representative data on epidemiology of HCC in India is scanty and mostly from urban areas. It is more common in males then female. Hepatitis, alcohol consumption, aflatoxin and other hepatotoxins in diet are common causes. Authors did a study for the common causes and trends of the HCC registered at authors’ centre between January 2013 to November 2018.Methods: Authors analyzed their hospital data for the patient registered with the diagnosis of hepatocellular carcinoma at their centre during the study period for age, sex, number and causes.Results: Out of 23,766 patients registered for cancer in study period, 132 (0.55%) patients were of HCC, of which 89 (66.4%) were males and 43 (32.6%) were females, with ratio of 2:1. Commonest age group was between 50-59 years 46 (34.6%) followed by 40-49years 26 (19.5%). No patients were below 20 years of age. Among the commonest causes were alcohol consumption in 71 (53.4%), hepatitis B in 37 (27.8%), hepatitis C in 10 (7.5%), HIV in 4 (3%) and unknown in 11 (8.3%). There is rising trend in males and declining trend in females.Conclusions: Incidence of hepatocellular carcinoma is low among all cancer but has high mortality rate. Alcohol consumption and hepatitis were the commonest cause. It is common above 40 years specially in males

    Myopalladin promotes muscle growth through modulation of the serum response factor pathway

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    Myopalladin (MYPN) is a striated muscle-specific, immunoglobulin-containing protein located in the Z-line and I-band of the sarcomere as well as the nucleus. Heterozygous MYPN gene mutations are associated with hypertrophic, dilated, and restrictive cardiomyopathy, and homozygous loss-of-function truncating mutations have recently been identified in patients with cap myopathy, nemaline myopathy, and congenital myopathy with hanging big toe

    Cardiovascular disease and the role of oral bacteria

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    In terms of the pathogenesis of cardiovascular disease (CVD) the focus has traditionally been on dyslipidemia. Over the decades our understanding of the pathogenesis of CVD has increased, and infections, including those caused by oral bacteria, are more likely involved in CVD progression than previously thought. While many studies have now shown an association between periodontal disease and CVD, the mechanisms underpinning this relationship remain unclear. This review gives a brief overview of the host-bacterial interactions in periodontal disease and virulence factors of oral bacteria before discussing the proposed mechanisms by which oral bacterial may facilitate the progression of CVD

    Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

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    Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same regio
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