Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer.

Background: Next-Generation Sequencing (NGS)-based testing in cancer patients has led to increased detection of variants of uncertain significance (VUS). VUS are genetic variants whose impact on protein function is unknown. VUS pose a challenge to clinicians and patients due to uncertainty regarding their cancer predisposition risk.

The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature.

Introduction: Leber hereditary optic neuropathy is a genetic disease of mitochondrial inheritance characterized by bilateral irreversible vision loss, predominantly affecting males. We report the first genetically authenticated Sri Lankan case of Leber hereditary optic neuropathy, illustrating its characteristic features of male predominance and variable penetrance.

Case Presentation: A 15-year-old previously healthy Sri Lankan boy presented with painless progressive vision loss in his right eye, followed by vision loss in his left eye within 3 months.

Multi-system : A tale of destruction form lung to eye.

, found in the gastrointestinal flora is a causative agent of hospital-acquired infections. Although isolated organ infections are common, reports of multi-system involvement are rare. We report on a susceptible patient presenting with disseminated infection with concurrent multi-organ disease involving the lung, liver, prostate and eye.

Tuberculosis presenting as arthritis of the ankle: A case report.

Tuberculosis presenting as monoarticular involvement in immunocompetent patients is rare. Here, we report a Sri Lankan patient presenting with ankle swelling due to tuberculosis with no other extrapulmonary or pulmonary involvement. Magnetic resonance imaging showed destruction of articular cartilage of the ankle joint with chronic inflammation of the subtalar joint.

Descriptive analysis of glomerulonephritis by histological type and their progression among adults in a tertiary care center in Sri Lanka.

Prevalence of different glomerulonephritides and their clinical course vary geographically. Our objectives are to assess the prevalence of different histological types of glomerulonephritis (GN) based on the light microscopic histology and to assess their progression according to histological type. A retrospective cross-sectional study was carried out among adult patients (>18 years) with a histological diagnosis of GN at the University Professorial Unit over a period of six months.