Publications by authors named "Ruchika Jha"
Objective: To determine the efficacy of addition of melatonin or triclofos to sleep deprivation as compared with sleep deprivation with placebo for conduct of successful sleep electroencephalogram (EEG) among children between 6 months and 12 years of age.
Design, Setting And Patients: 486 children aged between 6 months and 12 years who were uncooperative or referred for sleep EEG were enrolled for this double-blind, placebo-controlled randomised trial between 30 June 2022 and 31 March 2023.
Intervention: On the day of sleep EEG, participants were sleep deprived by 25% of their regular sleep duration and then randomly assigned to receive either triclofos (50 mg/kg), melatonin (weight ≤15 kg=3 mg; weight >15 kg=6 mg) or placebo.
Article Synopsis
- - The study focuses on the mutations in the spike (S) protein of SARS-CoV-2 omicron variants found in Delhi, India, highlighting their role in increased transmissibility and potential immune evasion due to changes in binding to the ACE-2 receptor.
- - Key mutations such as Y505 reversion, G339H, and R346T/N are associated with altered immune responses and antibody neutralization abilities, indicating a partial immune escape by the omicron variant.
- - Researchers are investigating various strategies to improve vaccine efficacy against these variants, including modifications to existing vaccines, developing multi-strain formulations, and understanding the implications of mutations on immune recognition and interaction with antibodies.
Objective: To describe the comorbidities in children with cerebral palsy (CP) and determine the characteristics associated with different impairments.
Design: Cross-sectional study.
Setting: Tertiary care referral centre in India.
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View Article and Find Full Text PDFBackground: pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in -related disorders are sparse. This study maps the clinicogenetic spectrum of -related disorders in the pediatric population.
View Article and Find Full Text PDFBackground: The role of PI3K/AKT/mTOR pathway hyperactivation in localized brain overgrowth is evolving. We describe two patients with focal cortical dysplasia (FCD) who demonstrated somatic mutations in TSC1 and TSC2 genes in the dysplastic brain tissue but not peripheral blood.
Methods: Paired whole-exome sequencing was performed on genomic DNA extracted from blood and excised brain tissue in two children with FCD who underwent excision of dysplastic tissue.
Polymicrogyria (PMG) has environmental or genetic etiologies. We report a 8-year-old boy with diffuse PMG and two novel adhesion G protein-coupled receptor G1 ( ) G protein-coupled receptor 56 ( ) mutations. The proband has intellectual disability, spastic quadriparesis, and intractable epilepsy without antenatal or perinatal insults.
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