Publications by authors named "Helvi N Joel"
Marfan Syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Early Onset Marfan Syndrome is at the severe end of the Marfan syndrome spectrum and is frequently associated with variants in exons 24-32 of the FBN1 gene. To the best of our knowledge, this is the first molecularly confirmed patient from Sub-Saharan Africa with Early Onset Marfan Syndrome who presented with tall stature, arachnodactyly, multivalvular insufficiency and ectopia lentis.
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- Neonatal jaundice is a common issue in newborns that requires effective treatment, leading to a study comparing fiberoptic phototherapy with conventional methods.
- The study involved 41 term neonates with hyperbilirubinemia, measuring bilirubin reduction rates, treatment duration, and side effects among fiberoptic, blue light, and white light therapies.
- Results indicated that fiberoptic and blue light therapies had similar bilirubin reduction rates while white light therapy was less effective; fiberoptic therapy also showed fewer side effects.