17-Beta-Hydroxysteroid Dehydrogenase 13 Loss of Function Does Not Confer Protection to Nonalcoholic Fatty Liver Disease in Indian Population.

Background: A splice variant in gene is demonstrated to protect against nonalcoholic fatty liver disease (NAFLD), and mitigate the effect of Patatin-like phospholipase domain-containing 3 (-I148M). It is being explored as a putative drug target and in polygenic risk scores. Based on whole exome sequencing (WES) in our cohort of biopsy proven NAFLD and limited data on the variant in our ethnicity, we sought to explore its role.

A variant in is associated with decreased disease severity in COVID-19.

Background: Mortality due to COVID-19 caused by SARS-CoV-2 infection varies among populations. Functional relevance of genetic variations in Angiotensin-converting enzyme 2 () and Transmembrane serine protease 2 (), two crucial host factors for viral entry, might explain some of this variation.

Methods: In this comparative study in Indian subjects, we recruited 510 COVID-19 patients and retrieved DNA from 520 controls from a repository.

Pancreas Divisum Increases the Risk of Recurrent Acute Pancreatitis in Patients with rs12338 Polymorphism in the Cathepsin B Gene.

Objectives: Pancreas divisum (PD) as a cause of pancreatitis has been debated. In this study, we report the association of multiple gene polymorphisms on the risk of RAP in the presence of PD.

Design: We enrolled 687 individuals (167 IRAP, 276 ICP, and 244 unrelated healthy controls) from May 2015 to September 2016.

Cast syndrome.

Cast syndrome, commonly known as superior mesenteric artery (SMA) syndrome is a rare cause of small bowel obstruction caused by compression of third part of duodenum from narrowing of the angle between superior mesenteric artery and abdominal aorta resulting in symptoms of duodenal outflow obstruction. A 46-year-old male presented with acute worsening of chronic abdominal pain, nausea and vomiting aggravated with eating. Computed tomography of abdomen and pelvis revealed the dilatation of gastric and proximal duodenum due to compression of third part of duodenum between superior mesenteric artery and aorta.

Polymorphisms in Gene Predispose South Indians to Pigmentous Gallstones.

Background/objectives: Pigmentous gallstones occur in South Indians despite significant higher levels of circulating cholesterol. This study was conducted to identify the biochemical and/or genetic causes for the formation of pigmentous gallstones in this ethnic group.

Methods: Plasma lipid profile, bile cholesterol, acids, and phospholipid levels were estimated in patients with gall stone disease and age, sex matched controls using standard protocols.