Single Nucleotide Polymorphisms [SNPs] in the Shadows: Uncovering their Function in Non-Coding Region of Esophageal Cancer.

Esophageal cancer is a complex disease influenced by genetic and environmental factors. Single nucleotide polymorphisms [SNPs] in non-coding regions of the genome have emerged as crucial contributors to esophageal cancer susceptibility. This review provides a comprehensive overview of the role of SNPs in non-coding regions and their association with esophageal cancer. The accumulation of SNPs in the genome has been implicated in esophageal cancer risk. Various studies have identified specific locations in the genome where SNPs are more likely to occur, suggesting a location-specific response. Chromatin conformational studies have shed light on the localization of SNPs and their impact on gene transcription, posttranscriptional modifications, gene expression regulation, and histone modification. Furthermore, miRNA-related SNPs have been found to play a significant role in esophageal squamous cell carcinoma [ESCC]. These SNPs can affect miRNA binding sites, thereby altering target gene regulation and contributing to ESCC development. Additionally, the risk of ESCC has been linked to base excision repair, suggesting that SNPs in this pathway may influence disease susceptibility. Somatic DNA segment alterations and modified expression quantitative trait loci [eQTL] have also been associated with ESCC. These alterations can lead to disrupted gene expression and cellular processes, ultimately contributing to cancer development and progression. Moreover, SNPs have been found to be associated with the long non-coding RNA HOTAIR, which plays a crucial role in ESCC pathogenesis. This review concludes with a discussion of the current and future perspectives in the field of SNPs in non-coding regions and their relevance to esophageal cancer. Understanding the functional implications of these SNPs may lead to the identification of novel therapeutic targets and the development of personalized approaches for esophageal cancer prevention and treatment.

Primary Prophylaxis Patterns for Hepatic Encephalopathy in Patients with Liver Cirrhosis: What are the Current Prescribing Trends in Specialty Practice?

INTRODUCTION: Hepatic encephalopathy (HE) is a significant complication of severe chronic liver insufficiency characterized by altered sensorium, motor, and cognitive dysfunction. This was a cross-sectional multicenter, epidemiological study to understand the prescribing pattern for primary prophylaxis of overt HE (OHE) in patients with cirrhosis in India. METHODS: The study was conducted at eight centers across different geographical regions of India. A total of 200 patients (100%) were screened, of which 197 (98.50%) met all the inclusion criteria. The prescribing pattern of the physicians was studied by calculating the percentage (subject to availability of sufficient data) of OHE-naïve patients with cirrhosis who were prescribed with different classes of drugs as primary prophylaxis of HE (such as lactulose, rifaximin, neomycin, sodium benzoate, and L-ornithine L- aspartate). The risk factors responsible for initiation of primary prophylaxis of HE was also determined. RESULTS: All the 197 patients (100%) were prescribed with prophylactic treatment. The factors that were considered by treating physicians to pose a risk for precipitating OHE for which prophylaxis was initiated were constipation in 111 (56.35%), infections in 51 (25.89%) and gastrointestinal bleeding in 35 (17.77%). Of the total 197 patients, 122 (61.93%) patients were prescribed a monotherapy, and 75 (38.07%) were prescribed a combination therapy. Of the patients on combination therapy, 68 (34.52%) patients were prescribed with two primary prophylaxis agents (dual therapy), and seven (3.55%) patients were prescribed with three primary prophylaxis agents (triple therapy). Lactulose was the most commonly prescribed agent for primary prophylaxis, followed by rifaximin. CONCLUSION: These findings may guide recommendations on primary prophylaxis for OHE in patients with liver cirrhosis that may help reduce the occurrence of first episode of overt HE, and thereby prevent subsequent cognitive impairment in these patients.

Sociodemographic and Clinical Profiles of Patients with Irritable Bowel Syndrome: A Cross-sectional, Multi-centric, Epidemiological Study in India.

AIMS: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by impaired gut-brain interaction. Considering the paucity of evidence in the Indian setting, the current study was conducted to determine the sociodemographics, clinical profiles, management practices, and patients' perception among newly diagnosed patients with IBS. METHODS: This was a cross-sectional, single-visit, observational, non-interventional, epidemiological study conducted across 12 centres. The primary objective was evaluation of sociodemographic and clinical profiles. The key secondary objective was assessment of gastrointestinal symptom severity including evaluation of anxiety and depression using the hospital anxiety and depression scale (HADS) scores. Knowledge, attitude, and practices (KAP) were evaluated as an exploratory objective. RESULTS: Out of 300 enrolled patients, 120 (40%) were aged 31-45 years (mean age: 38.55±12.45 years), and 204 were men (68%). Overall, 40% of patients belonged to the upper-middle-class, with a Kuppuswamy score of 16-25. Most patients (91%) did not work in night shifts. Only 13% of patients performed more than recommended physical activity. Stress and food were the leading triggers for IBS (29%). Abdominal pain and diarrhoea as cardinal symptoms were reported by 43.3% and 33.0% patients, respectively. Borderline abnormal anxiety and depression were reported by 21.3% and 26.7% of patients, respectively. KAP assessment revealed that 56.0% of patients had poor knowledge, 26.3% had moderate knowledge, and 17.7% had good knowledge about IBS; nevertheless, 43% of patients maintained high levels of precaution towards managing symptoms. CONCLUSION: Given the limited knowledge about IBS in India among newly diagnosed patients, strategies to enhance awareness about the condition are warranted.