Tuberous sclerosis complex: one disorder, three generations and an assortment of radiological and clinical presentations.

This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.

Epidemiology of chronic and acute pancreatitis in India (EPICAP-India): protocol for a multicentre study.

Introduction: Acute and chronic pancreatitis (CP) are inflammatory conditions of the pancreas that cause local and systemic complications. The epidemiology of these conditions are not well-known in India.

Methods And Analysis: We describe the protocol and procedures of a multicentre study for delineating the epidemiology of pancreatitis in India.

Dysregulated airway epithelial antiviral immunity in Down Syndrome impairs type III IFN response and amplifies airway inflammation during RSV infection.

Trisomy 21 (TS21), also known as Down syndrome (DS), increases pediatric mortality risk from respiratory syncytial virus (RSV) by nine-fold, yet its underlying immunological basis remains unclear. Here, we investigated RSV-induced immunological responses in TS21 airway epithelial cells (AECs), the primary site of respiratory virus entry and host defense. TS21 AECs exhibit hyperactive interferon (IFN) signaling and reduced RSV infectivity, but they also show impaired type-III IFN responses during viral infection.