Publications by authors named "Somasundaram Praveenan"
Article Synopsis
- This case report describes the first documented instance of a child having both mitochondrial encephalomyopathy (a condition affecting muscles and the brain) and nemaline myopathy (a muscle disorder), highlighting their coexistence.
- An 11-year-old Sri Lankan boy, previously healthy, experienced acute neurological symptoms, elevated lactate levels, and imaging results indicative of an acute brain infarction, leading to genetic testing that confirmed both conditions.
- The child's treatment included supportive care, antiepileptics, and supplements, with ongoing monitoring, underscoring the importance of genetic diagnosis for effective management and family counseling.
Background: Bladder cancer has a high rate of recurrence and high mortality rates in those who progress to muscle invasive disease. Biomarkers and molecular sub classification of tumours beyond standard histopathology has been proposed to address therapeutic dilemmas. The Cancer Genome Atlas project and other studies have contributed to the enhanced knowledge base of the mutational landscape of urothelial bladder cancer.
View Article and Find Full Text PDFIntroduction: Steroid hydroxylase deficiency due to CYP21A2 gene mutation is the most common cause of Congenital Adrenal Hyperplasia (CAH). Mutation spectrum in Sri Lankan CAH patients has not been investigated adequately.
Objectives: This study attempted to study the spectrum of mutations in CYP21A2 gene in 30 patients with salt wasting form of CAH in Sri Lanka.