Publications by authors named "Kn Vykunta Raju"

Article Synopsis
  • Rare disorders include about 7,500 different conditions that are challenging to diagnose due to a lack of specialized healthcare, testing facilities, and treatment options, particularly in countries like India with diverse population groups.
  • This study examined a cohort of 3,294 patients with 305 identified rare genetic diseases, primarily affecting the neuromuscular and neurodevelopmental systems, as well as inborn errors of metabolism.
  • The findings revealed that the most common diseases were Gaucher disease in the IEM category, and Duchenne muscular dystrophy and trinucleotide repeat expansion disorders in the NMND group, highlighting the need for more focused genetic research and healthcare resources in India.
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The possibility of early treatment and a better outcome is the direct product of early identification and characterization of any pathological condition. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social communication, restricted, and repetitive patterns of behavior. In recent times, various tools and methods have been developed for the early identification and characterization of ASD features as early as 6 months of age.

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Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS.

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Appropriate management of raised intracranial pressure begins with stabilization of the patient and simultaneous assessment of the level of sensorium and the cause of raised intracranial pressure. Stabilization is initiated with securing the airway, ventilation and circulatory function. The identification of surgically remediable conditions is a priority.

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