Background: Early skin-to-skin contact (SSC) at birth has been shown to improve neonatal outcomes due to enhanced cardiorespiratory stability, thermoregulation and breastfeeding success.
Local Problem: The practice of early SSC was virtually non-existent in our delivery room (DR).
Methods And Interventions: The study was conducted in a newly established tertiary care teaching hospital in Western Rajasthan, India.
Wolfram syndrome type 1 is a rare autosomal recessive genetic disorder which is characterized by the co-existence of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, and hence is also referred to as the acronym DIDMOAD. In this neuroimage, the typical neuroimaging features of a genetically confirmed case of Wolfram syndrome type 1 are presented. The presence of left-sided vestibulocochlear dysplasia is a novel finding in our case which has not been reported previously.
View Article and Find Full Text PDFBackground: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare inherited neurodegenerative disorders. Ten types of NBIA are known. Studies reporting various NBIA subtypes together are few.
View Article and Find Full Text PDFAlternating hemiplegia of childhood (AHC) is a rare autosomal dominant neurodevelopmental disorder with mutation on gene. Delay in diagnosis and inappropriate diagnosis are common. In this article, we described four genetically confirmed AHC patients to provide an improved understanding of the disorder.
View Article and Find Full Text PDFWe report a previously healthy 16-month-old child who presented to us with membranous pharyngitis and ecthyma gangrenosum. In this patient, was isolated from throat swab, cerebrospinal fluid, skin swab, urine, blood and synovial fluid in a single admission. In further workup, this child was diagnosed as a case of X-linked agammaglobulinaemia.
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