The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Background: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing.

Co-relation of Portal Vein Tumour Thrombus Response With Survival Function Following Robotic Radiosurgery in Vascular Invasive Hepatocellular Carcinoma.

Background/aims: The aim of this study was to prospectively evaluate stereotactic body radiotherapy (SBRT) with robotic radiosurgery in hepatocellular carcinoma patients with macrovascular invasion (HCC-PVT).

Materials And Methods: Patients with inoperable HCC-PVT, good performance score (PS0-1) and preserved liver function [up to Child-Pugh (CP) B7] were accrued after ethical and scientific committee approval [Clinical trial registry-India (CTRI): 2022/01/050234] for treatment on robotic radiosurgery (M6) and planned with Multiplan (iDMS V2.0).

Multi-center prospective survey of hepatocellular carcinoma in Kerala: More than 1,200 cases.

Background: Hepatocellular carcinoma (HCC) is considered uncommon in India. The aim of this study was to document the demographic characteristics and clinical aspects of HCC in Kerala, India.

Methods: A survey of HCC in Kerala was performed.

Indian consensus statements on irritable bowel syndrome in adults: A guideline by the Indian Neurogastroenterology and Motility Association and jointly supported by the Indian Society of Gastroenterology.

The Indian Neurogastroenterology and Motility Association (INMA), earlier named the Indian Motility and Functional Diseases Association developed this evidence-based practice guidelines for the management of irritable bowel syndrome (IBS). A modified Delphi process was used to develop this consensus containing 28 statements, which were concerning diagnostic criteria, epidemiology, etiopathogenesis and comorbidities, investigations, lifestyle modifications and treatments. Owing to the Coronavirus disease-19 (COVID-19) pandemic, lockdowns and mobility restrictions, web-based meetings and electronic voting were the major tools used to develop this consensus.

Improving Diagnosis of Hepatitis C Virus Infection Using Hepatitis C Core Antigen Testing in a Resource-Poor Setting.

Introduction: We compared the hepatitis C virus (HCV) core antigen test with the HCV RNA assay to confirm anti-HCV results to determine whether the HCV core antigen test could be used as an alternative confirmatory test to the HCV RNA test.

Methods: Sera from 156 patients were analyzed for anti-HCV and HCV core antigen using a chemiluminescent microparticle immunoassay (Architect i2000SR) and for HCV RNA using the artus HCV RG RT-PCR Kit (QIAGEN) in a Rotor-Gene Q instrument.

Results: The diagnostic sensitivity, specificity, and positive and negative predictive values of the HCV core antigen assay compared to the HCV RNA test were 77.

Indian consensus on chronic constipation in adults: A joint position statement of the Indian Motility and Functional Diseases Association and the Indian Society of Gastroenterology.

The Indian Motility and Functional Diseases Association and the Indian Society of Gastroenterology developed this evidence-based practice guideline for management of chronic constipation. A modified Delphi process was used to develop this consensus containing 29 statements, which were generated by electronic voting iteration as well as face to face meeting and review of the supporting literature primarily from India. These statements include 9 on epidemiology, clinical presentation, and diagnostic criteria; 8 on pathophysiology; and the remaining 12 on investigations and treatment.

Colorectal cancer distribution in 220 Indian patients undergoing colonoscopy.

Aim: Colorectal cancer is one of the major cancers in the developed world. The incidence of colorectal cancer is low in India. The aim of the present study was to describe the anatomical distribution and age at diagnosis of colorectal cancer in India.

Muscle cell membrane damage by very low serum sodium.

A 63-year-old male was admitted with complaints of upper gastrointestinal symptoms with fatigue and myalgia. Investigations revealed severe hyponatremia with elevated creatine phosphokinase levels. Following further workup, it was diagnosed as a case of hyponatremia induced rhabdomyolysis.

Fulminant hepatic failure for herpes simplex virus.

Although exceedingly rare, fulminant hepatic failure in immunocompetent patients can develop with primary or recurrent infection due to herpes simplex virus. The diagnosis is frequently obscured by the absence of mucocutaneous involvement. Elevated transaminases with leucopenia and a relatively low bilirubin level may provide clues to the diagnosis.

Acute myeloid leukemia presenting as obstructive jaundice.

We report a 32-year-old man with acute myeloid leukemia presenting as obstructive jaundice. Imaging revealed dilated common bile duct with abrupt narrowing at the lower end, distended gall bladder, and dilated intrahepatic biliary radicles. In addition he had a mass lesion in the urinary bladder.

Factors determining successful outcome following pneumatic balloon dilation in achalasia cardia.

Background: Pneumatic balloon dilation is a popular method of treating patients with achalasia cardia. It may be useful to know the factors that predict response to this treatment.

Aim: To determine predictors of outcome following pneumatic balloon dilation in patients with achalasia cardia.

Skeletal infections in cirrhotics.

There are few reports of skeletal infections in patients with cirrhosis. We present two such cases, both with alcoholic liver disease, seen over a period of one year. The first, a 46-year-old man, presented as pyrexia of unknown origin, and was found to have pyogenic discitis; he responded to antibiotic and surgery.

Infiltrating Strongyloides stercoralis presenting as duodenal obstruction.

Small intestinal obstruction due to Strongyloides stercoralis is rare and has not been reported in an immunocompetent patient. We describe a 70-year-old immunocompetent man presenting with duodenal obstruction secondary to severe S. stercoralis infestation, as documented on duodenal biopsy.