Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population.

Background: The protein coded by the cystathionine β synthase (CBS) gene acts as a catalyzer and converts homocysteine to cystathionine. Impairment of the CBS gene leads to homocystinuria by cystathionine β synthase deficiency which is linked to Coronary Artery Disease. A number of polymorphisms studies have been performed on the cystathionine β synthase gene.

Kaposiform haemangioendothelioma of duodenum in a neonate.

Kaposiform haemangioendothelioma, an endothelial borderline tumour, is typically seen in childhood involving extremities. It has been closely associated with a consumptive coagulopathy state, Kasabach-Merritt phenomenon (KMP). Extracutaneous involvement is uncommon.

Effect of sodium-glucose cotransporter-2 inhibitors on renal handling of electrolytes.

Sodium-glucose cotransporter-2 inhibitors (SGLT2i) are the latest introduction into the armamentarium of diabetes care in the present decade. By virtue of their beneficial effects, such as blood pressure-lowering, bodyweight reduction and significant renal and cardioprotective effects which extends beyond their glycaemic control effects, SGLT2i have become one of the most preferred oral antihyperglycaemic agents of recent times. However, they can influence tubular handling of electrolytes that can result in some electrolyte disturbances such as alteration in the serum levels of magnesium, potassium and phosphate levels.

Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study.

Steroid-resistant nephrotic syndrome (SRNS) patients with genetic mutations most commonly have histology of focal segmental glomerulosclerosis (FSGS) and do not respond to immunosuppressive drugs. We report the molecular screening results of 18 pediatric SRNS cases presented to our nephrology clinic. Three pathogenic variants have been detected, two previously reported and one novel variant.

Abdominal CT in a pregnant woman: Bane or boon?

Would you ever purposefully advise an abdominal computed tomography scan in a pregnant woman? We present the case of a pregnant woman who presented with hematochezia requiring multiple transfusions.

Infantile thiamine deficiency: Redefining the clinical patterns.

Objectives: Thiamine deficiency (TD) is frequently suspected and treated at our hospital. In our retrospective study, we aimed at finding the clinical and laboratory spectrum of infantile TD presenting to a single center over a period of time.

Methods: The diagnosis was made on criterion standard of response to thiamine challenge.

Mucin-filled CBD, difficult to manage cholangitis.

Intraductal papillary mucinous neoplasms (IPMNs) are mucin-secreting cystic neoplasm of pancreas. They have a malignant potential. They are usually localised to the pancreas but occasionally can involve surrounding structures (1.

Requirement of a Booster Dose of Hepatitis B Vaccine in Children With Thalassemia After 5 Years of Primary Vaccination: A Prospective Study.

Objective: To determine anti-HBs antibody levels in multi-transfused children with beta-thalassemia major who had received primary hepatitis B vaccination ≥5 years ago, and to document their antibody response to a booster dose of hepatitis B vaccine.

Methods: We included 85 children each of beta-thalassemia major and age-matched healthy controls, who had completed primary hepatitis B vaccination ≥5 years ago. Participants were assessed for anti-HBs titres, and those with beta-thalassemia major who were seronegative (titres<10 mIU/mL) were administered a single booster dose of hepatitis B vaccine.

Pattern of acute MI admissions in India during COVID-19 era: A Cardiological Society of India study - Rationale and design.

Background: COVID-19 pandemic has affected around 20million patients worldwide and 2.0 million cases from India. The lockdown was employed to delay the pandemic.

Immunocytochemistry of the ocular surface after different techniques of limbal stem cell transplantation for chronic chemical burns.

Aim: To compare the immunocytochemistry (ICC) on impression cytology of corneal surface epithelium after simple limbal epithelial transplantation (SLET) and conjunctival-limbal autograft (CLAU).

Methods: A prospective study of 20 patients above 1 year of age with chronic chemical burns, who underwent limbal stem cell transplantation (LSCT). They were divided equally in group A (SLET) and group B (CLAU).