Publications by authors named "A Sowani"

Article Synopsis
  • Current diagnostic methods for lysosomal storage disorders (LSDs) in India are lengthy and expensive, relying on biochemical tests and DNA sequencing, which often yield low results due to overlapping symptoms.
  • Researchers have created a novel, cost-effective sequencing assay using single-molecule molecular inversion probes (smMIPs) that accurately identifies genetic variants linked to 29 common LSDs.
  • The new assay showed a high diagnostic yield of 83.4% in patients with previous biochemical diagnoses and effectively detected rare diseases like Niemann-Pick type C, outperforming traditional methods and allowing for flexible use with different sample types.
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Background: Hypoglycemia is the limiting factor in the glycemic management of diabetes, which need to be addressed critically to avoid complications. Lockdown because of new coronavirus strain (COVID-19) pandemic has further complicated the issue of hypoglycemia due to limitations in access to food, outpatient clinics, pathological services and medicines.

Aim: To assess the factors associated with the risk of hypoglycemia during April-May 2020 lockdown in people with type 2 diabetes mellitus.

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Background: The 'Asia-Pacific Expert Panel (APEX) for donepezil 23 mg' met in November 2015 to review evidence for the recently approved high dose of donepezil and to provide recommendations to help physicians in Asia make informed clinical decisions about using donepezil 23 mg in patients with moderate-to-severe Alzheimer's disease (AD).

Summary: In a global phase III study (study 326) in patients with moderate-to-severe AD, donepezil 23 mg/day demonstrated significantly greater cognitive benefits versus donepezil 10 mg/day, with a between-treatment difference in mean change in the Severe Impairment Battery score of 2.2 points (p < 0.

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Intraocular choroidal metastasis is a very rare cause of blindness. Choroidal hemangioma and melanoma are other causes that may mimic the condition. Carcinoma of breast is the most common primary malignancy that accounts for choroidal metastasis in females and carcinoma of lung is the most common cause in males.

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