Publications by authors named "B S Disha"

Article Synopsis
  • Carbonic anhydrase 5A (CA5A) is a zinc enzyme that helps convert CO to bicarbonate and is linked to a rare metabolic disorder called Carbonic anhydrase 5A deficiency (CA5AD).
  • Mutations in CA5A can lead to severe symptoms like acute encephalopathy in infants, and CA5A has two similar pseudogenes that may complicate genetic testing.
  • The report discusses a case of CA5AD resulting from specific genetic variants in an infant, highlighting the importance of understanding pseudogenes in genetic analysis.
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A community-level nutritional intervention was implemented among tribal children (3 to 6 years of age) in Telangana, India. The one-year intervention involved six nutrient-rich formulations of millet-pulse-groundnut-based products suited to local taste preferences. Anthropometric measurements of height, weight, and mid-upper-arm circumference (MUAC) along with haemoglobin (Hb) levels were monitored at baseline and endline.

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Mitochondria are an indispensable part of the cell that plays a crucial role in regulating various signaling pathways, energy metabolism, cell differentiation, proliferation, and cell death. Since mitochondria have their own genetic material, they differ from their nuclear counterparts, and dysregulation is responsible for a broad spectrum of diseases. Mitochondrial dysfunction is associated with several disorders, including neuro-muscular disorders, cancer, and premature aging, among others.

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Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4 week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings.

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The most common venous abnormality of the thorax is persistent left superior vena cava (PLSVC), incidence being less than 0.5%. However, with congenital heart disease, it is about 6.

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