A5045865660- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Infectious Encephalopathies and Encephalitis
- Peripheral Neuropathies and Disorders
- Genetics and Neurodevelopmental Disorders
- Autoimmune Neurological Disorders and Treatments
- Neonatal and fetal brain pathology
- Bacterial Infections and Vaccines
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- Parasitic infections in humans and animals
- Pharmacological Effects and Toxicity Studies
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Hereditary Neurological Disorders
- Neurological and metabolic disorders
- Blood Coagulation and Thrombosis Mechanisms
- Cerebrospinal fluid and hydrocephalus
- Multiple Sclerosis Research Studies
- Skin and Cellular Biology Research
- Genetic Neurodegenerative Diseases
- Myasthenia Gravis and Thymoma
- Kawasaki Disease and Coronary Complications
Pediatrics and Genetics
2018-2025
Post Graduate Institute of Medical Education and Research
2015-2024
Institute of Post Graduate Medical Education and Research
2012-2023
Pediatric Oncology Group
2021
Medanta The Medicity
2020
Government Medical College and Hospital
2020
NeuroDevelopment Center
2018
University of Rajasthan
2009
Congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathies (HSAN) are clinically genetically heterogeneous disorders exclusively or predominantly affecting the neurons. Due rarity of diseases findings based mainly on single case reports small series, knowledge about these is limited. Here, we describe molecular workup a large international cohort CIP/HSAN patients including from normally under-represented countries. We identify 80 previously unreported pathogenic...
Abstract Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce developing countries. This multicentre collaboration evaluated and phenotypic landscape genetic IESS Indian children. Methods Between January 2021 June 2022, this cross‐sectional study was conducted at six centers India. Children with genetically confirmed IESS, without definite structural‐genetic structural‐metabolic etiology, were recruited underwent detailed...
Cardiomyopathy is an important cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). Early diagnosis a prerequisite for timely institution cardioprotective therapies.We compared cardiac MRI (CMRI) transthoracic echocardiography (TTE) including tissue Doppler imaging (TDI) speckle tracking (STE) cardiomyopathy early ambulatory DMD.This cross-sectional study was conducted between June 2018 December 2020. Consecutive 7 15 years age DMD were enrolled. Percentage...
Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder, characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes, mental retardation. Very few cases are reported in literature from developing countries. Diagnosis often delayed due to non-familiarity with the characteristic features of this syndrome.To report 11 RSTS review current literature.Retrospective study conducted genetic metabolic unit tertiary care teaching hospital...
Our aim was to study long-term clinical and radiologic outcome in children with parenchymal neurocysticercosis (NCC) its predictors.Five hundred NCC registered the pediatric clinic between January 1996 December 2002 followed till 2009 were enrolled. Demographic details, presentations therapy received recorded. Outcome evaluated terms of seizure recurrence resolution lesions on neuroimaging. Various factors that could influence studied.Mean age at presentation 8 ± 2.7 years, mean duration...
Aim: Survey of treatment practices and adherence to pediatric status epilepticus (PSE) management guidelines in India.Methods: This eSurvey was conducted over 35 days (15th October 20th November 2023) included questions related hospital setting; antiseizure medications (ASMs); ancillary treatment; facilities available; etiology; PSE guidelines.Results: A total 170 respondents participated, majority them were working tertiary level hospitals (94.1%) as intensivists (56.5%) pediatricians...
The functional success of the reversal vas occlusion by styrene maleic anhydride (RISUG), using solvent vehicle, Dimethyl Sulphoxide (DMSO), has been investigated. Reversal with DMSO was carried out in Wistar albino rats 90 days after bilateral occlusion. body weight, organ sperm characteristics, fertility test and teratology, including skeletal morphology were evaluated animals F(1) progenies to assess reversal. Body weight cauda epididymal characteristics comparable control. Ejaculated...
Calcified neurocysticercosis (NCC), previously thought to be a dead end, is an important risk factor for seizure recurrences. We studied the pattern of recurrences and associated radiological findings in children with calcified NCC. In this ambispective cohort study, we enrolled (age 1–15 years) NCC attending pediatric clinic between January 2017 December 2017. Retrospective data were collected from hospital records, all prospectively followed up till June 2018. The study group divided into...