Publications by authors named "A Keshavaraj"
The inherited disease community in Sri Lanka has been widely neglected. This article aimed to present accumulated knowledge in establishing a pro bono cost-effective national, island-wide, free-of-charge molecular diagnostic service, suggesting a model for other developing countries. The project provided 637 molecular diagnostic tests and reports free of charge to a nation with limited resources.
View Article and Find Full Text PDFBackground: Neurological manifestations of SARS-CoV-2 infection have been reported from many countries around the world, including the South Asian region. This surveillance study aimed to describe the spectrum of neurological disorders associated with COVID-19 in Sri Lanka.
Methods: COVID-19 patients manifesting neurological disorders one week prior and up to six weeks after infection were recruited from all the neurology centres of the government hospitals in Sri Lanka from May 2021 - May 2022.
Article Synopsis
- - The study analyzed genetic mutation data from patients in Sri Lanka with Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), spinocerebellar ataxia (SCA), and Huntington's disease (HD) to identify candidates for gene therapy, comparing results with literature from India and Pakistan.
- - A total of 623 rare disease patients were tested for molecular diagnostics using MLPA and single plex PCR, with 343 (55%) testing positive, revealing significant numbers of patients suitable for gene therapy options.
- - The authors identified 147 Sri Lankan patients eligible for existing gene therapy and found a combined total of 1257 patients from Sri Lanka, India, and Pakistan, while noting that most
Idiopathic hypertrophic pachymeningitis (IHP) is a chronic progressive diffuse inflammatory fibrosis of the dura-mater, leading to its diffuse enlargement. The following describes a case of IHP presenting with a superficial soft tissue mass. A 40-year-old female came to hospital with a subcutaneous lump over the left face and frontal headache for 6 months.
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