DNA base excision repair genes variants rs25487 (X-ray repair cross-complementing 1) and rs1052133 (human 8-oxoguanine glycosylase 1) with susceptibility to ovarian cancer in the population of the Jammu region, India

Background: Ovarian cancer is highly prevalent in the population of Jammu, in India; the ovarian cancer ranks third among other types of cancer prevalent in females. However, association studies on ovarian cancer are lacking in this region. We aimed to investigate the disease susceptible variants rs1052133 (human 8-oxoguanine glycosylase 1 [hOGG1]) and rs25487 (X-ray repair cross-complementing 1 [XRCC1]) with ovarian cancer in population of Jammu, India. Materials and Methods: The study conducted in the Shri Mata Vaishno Devi University is a 3-year study which included a total of 280 well-characterized samples (130 ovarian cancer cases and 150 healthy controls). hOGG1 and XRCC1 polymorphisms were determined by polymerase chain reaction-based restriction fragment length polymorphism, and these genotyping results were confirmed by Sanger sequencing. Hardy–Weinberg equilibrium for both single-nucleotide polymorphisms (SNPs) was assessed using the Chi-square test. The allele and genotype-specific risks were estimated by odds ratios with 95% confidence intervals. Results: In this preliminary study, SNP rs1052133 showed protection with ovarian cancer (P = 0.042). The SNP rs25487 was not found associated with ovarian cancer (P = 0.271). Conclusion: Our results indicate that the G allele of rs1052133 imparts protection to the population whereas variant rs25487 was not associated with ovarian cancer in population from the Jammu region, indicating that larger sample size is needed for further statistical validation. Further, association of other SNPs in these genes should also be carried out as their role cannot be ruled out.

Genetic variant rs10937405 of TP63 and susceptibility to lung cancer risk in north Indian population

Several studies including genomewide association studies (GWASs) in diverse ethnic populations have reported a significant association of genetic variant rs10937405 of TP63 with nonsmall cell lung cancer (NSCLC). However, no data are available from any Indian population on the association of this variant with NSCLC. Using TaqMan genotyping chemistry, we conducted a case–control study involving 190 NSCLC cases and 400 ethnic, age-matched controls to explore the association of rs10937405 genetic variant with NSCLC in patients from north India. Our data support that the rs10937405 variant is also significantly associated with the NSCLC and is a risk factor in the north Indian populations to develop NSCLC. However, unlike most other studies, the wild-type allele T appears to be the risk allele, as its frequency was significantly higher in the cases than controls (0.439 in cases versus 0.383 in controls. OR=1.95 (1.23–3.09 at 95% CI); P value (adjusted)= 0.004). Genetic association was also observed by applying different genetic models. The present study provides important information of the genetic aetiology of NSCLC and strengthens GWAS findings, highlighting the role of TP63 in lung cancer risk.

Transforming growth factor beta signaling in hepatocellular carcinoma: as a victim or culprit?

The transforming growth factor-β (TGFβ) signalling pathway control various cellular function and play a pivotal role in tumour suppression. In contrary, overexpression of TGFβ is linked to promote the cancer development. TGFβ facilitate cell-growth and cell-differentiation process which support tumour propagation. In case of hepatocellular carcinoma (HCC), TGFβ signalling pathway is the master regulator of HCCs pathogenesis and functionally involved in the regulation of HCCs phenotype via modulating the downstream signalling pathways. In this article, we have highlighted the contradictory behaviour of TGFβ in hepatocellular carcinoma. Observations suggest that the TGFβ signalling pathway is positively correlated to the expression of genes linked with various hepatic pathological conditions, including fibrosis, cirrhosis, inflammation and cancer. TGFβ pathway play dual role as pro and anti-tumoural activities in cancer cells depending on their context.

Ruptured Hepatocellular Carcinoma in a Child with Budd-Chiari Syndrome.

Background: Hepatocellular carcinoma is an uncommon complication described in patients with Budd-Chiari syndrome. Case characteristics: A 12-year-old boy with Budd-Chiari syndrome, who was earlier treated with Transjugular intrahepatic porto-systemic shunt (TIPS), presented with acute onset hemoperitoneum and hypotension. Outcome: It was diagnosed to be a case of ruptured hepatocellular carcinoma. Message: Successful TIPS may not prevent the development of hepatocellular carcinoma, and children with Budd Chiari syndrome should be monitored for the same.

Role of free radical scavengers in oral malignancies treated with radiotherapy.

Background: Radiotherapy has an important role in treatment of oral cancer, but it causes some deleterious effect on healthy cells. Radiation produces free radicals which cause lipo-peroxidation, alteration of protein, and DNA damage, and eventually cell death. This study is designed to evaluate protective role of antioxidants in oral malignancies treated with radiotherapy. Methods: This study is conducted in patients of oral cancer treated with radiotherapy. Patients were divided into two groups, control (n=7) and test (n=9). Patients in control group treated with radiotherapy alone and in test group were supplemented with oral antioxidants throughout the radiotherapy course. Pre and post radiotherapy levels of MDA, SOD and Glutathione reductase were measured in blood and cancerous tissue in both groups and statistically compared. TNM staging before and after radiotherapy and side effects of radiotherapy were also compared in both groups. Results: On statistical comparison of mean difference values of MDA, SOD & GR of control v/s test group, it was noticed that there was a significant reduction in MDA (p<0.05) and significant increase in GR levels (p<0.05) but non significant increase in SOD levels (p>0.05) in test group in comparison to control group for both blood and tissue levels. TNM status of patients improved significantly after radiotherapy in test group. Comparison of side effects between both groups indicated that there was reduction in side effects in test group after radiotherapy. Conclusion: These findings indicated the protective role of antioxidants against free radicals produced in oral malignancies treated with radiotherapy.

Current scenario of rational usage of various drugs in indoor patients.

Background: Irrational prescribing of drugs is of common occurrence in clinical practice. Rational drug prescribing is defined as “the use of the least number of drugs to obtain the best possible effects in the shortest period and at a reasonable cost”. The present study was designed to evaluate the practice of rational prescription in patients (cases) admitted in various wards of G.S.V.M. Medical College and associated hospitals at Kanpur. Methods: This study was carried out on patients admitted in different wards. For the study of drug prescribing patterns, each prescribed drug was counted only once for a patient, irrespective of change in dose and route of administration. WHO guidelines were taken into consideration. Both distribution of type of drug as well as drug category were evaluated in different departments thereafter. The characteristics chosen on each prescription provided the incidence of poly pharmacy and frequencies of prescribing of individual drug were analyzed. The data obtained were subsequently categorized systematically and analyzed by taking WHO guidelines into consideration. Results: The most commonly prescribed drugs were vitamins and tonics (57.5%) followed by anti-microbial agents (12.7%), non-steroidal anti-inflammatory drugs (10.5%), anti-hypertensive (5.2%), anti cough remedies and acid peptic disease drugs. Generic drug prescription was very low as most of drugs prescribed were proprietary. A low number of Fixed Dose Combinations (FDCs) were prescribed, this finding was in accordance with the WHO recommended list of FDCs. Items on the WHO model list of essential drugs were prescribed frequently. The use of drugs has been found to be in accordance with the disease, the patient had. Conclusions: Present study highlighted that there was a high incidence of irrational prescribing practice that increased with the total number of drugs per prescription.

Phylogenetic analysis, based on EPIYA repeats in the cagA gene of Indian Helicobacter pylori, and the implications of sequence variation in tyrosine phosphorylation motifs on determining the clinical outcome

The population of India harbors one of the world's most highly diverse gene pools, owing to the influx of successive waves of immigrants over regular periods in time. Several phylogenetic studies involving mitochondrial DNA and Y chromosomal variation have demonstrated Europeans to have been the first settlers in India. Nevertheless, certain controversy exists, due to the support given to the thesis that colonization was by the Austro-Asiatic group, prior to the Europeans. Thus, the aim was to investigate pre-historic colonization of India by anatomically modern humans, using conserved stretches of five amino acid (EPIYA) sequences in the cagA gene of Helicobacter pylori. Simultaneously, the existence of a pathogenic relationship of tyrosine phosphorylation motifs (TPMs), in 32 H. pylori strains isolated from subjects with several forms of gastric diseases, was also explored. High resolution sequence analysis of the above described genes was performed. The nucleotide sequences obtained were translated into amino acids using MEGA (version 4.0) software for EPIYA. An MJ-Network was constructed for obtaining TPM haplotypes by using NETWORK (version 4.5) software. The findings of the study suggest that Indian H. pylori strains share a common ancestry with Europeans. No specific association of haplotypes with the outcome of disease was revealed through additional network analysis of TPMs.

Atypical case of Delusional Parasitosis in Genital area.

A patient with delusional parasitosis of genital area, who responded to amisulpride is described.

Ekbom Syndrome.

A patient with Ekbom Syndrome with Leprosy, who responded to Amisulpride is described.