Forty-five African children with SMA were seen over a period of five years. Fifteen had severe infantile form (Group 1), 19 intermediate (Group 2), 9 juvenile (Group 3) and 2 cervical type. A positive family history was obtained in only 9% of patients. The female/male ratio was 1:1.7. The age of onset was under four months in Group 1, between 5-24 months in… (More)
Four African children with sporadically occurring centronuclear myopathy of the childhood form are described. Three were female. All had the characteristic clinical features of hypotonia, facial weakness, and external ophthalmoplegia. Muscle histology showed centrally placed nuclei in small type I fibres.
Suppressor cells were assayed by numerical and functional tests in Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) among African and Indian children in order to contribute to an understanding of the pathogenesis of these neurological disorders. Peripheral blood mononuclears (PBM) were classified as total T cells and T cell subsets by the… (More)
BACKGROUND 6-mercaptopurine (6-MP) is an essential component of pediatric acute lymphoblastic leukemia (ALL) maintenance therapy. Individual variability in this drug-related toxicity could be attributed in part to genetic polymorphism thiopurine methyltransferase (TPMT). AIM To investigate the frequency of common TPMT polymorphisms in a cohort of Egyptian… (More)
BACKGROUND Diabetic retinopathy (DR) is classically defined as a microvasculopathy that primarily affects the small blood vessels of the inner retina as a complication of diabetes mellitus. It has been suggested that nitric oxide (NO) and α2β1 integrin (a platelet receptor for collagen) play an important role in the pathogenesis of microvascular… (More)