A5034207526- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Pharmacological Effects and Toxicity Studies
- RNA regulation and disease
- Infectious Diseases and Tuberculosis
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Neurological Complications and Syndromes
- Glycogen Storage Diseases and Myoclonus
- Neurological and metabolic disorders
- Vascular Malformations and Hemangiomas
- Neonatal and fetal brain pathology
- Migraine and Headache Studies
- Parasitic infections in humans and animals
- Trace Elements in Health
- Infant Development and Preterm Care
- RNA modifications and cancer
- Neonatal Health and Biochemistry
- Cerebral Palsy and Movement Disorders
- Tuberous Sclerosis Complex Research
- Family and Disability Support Research
- Neurogenetic and Muscular Disorders Research
- Moyamoya disease diagnosis and treatment
- Genomics and Rare Diseases
Harlem Hospital Center
2024-2025
All India Institute of Medical Sciences Jodhpur
2022-2024
Post Graduate Institute of Medical Education and Research
2021-2024
Chaitanya Hospital And Nursing Home
2024
Maharishi Markandeshwar University, Mullana
2024
Institute of Medical Sciences
2024
Pediatrics and Genetics
2024
A 10-year old girl presenting with an insidious-onset low-grade fever for one month was found to have mediastinal widening bilateral perihilar opacities. MRI scanning further revealed dorsal spondylitis collapse of T2-4 vertebral bodies prevertebral and epidural tubercular collections 3 × 6.5 8 cm. This case emphasises the importance considering TB among differential diagnoses a mass, especially children from endemic countries.
Familial hemiplegic migraine (FHM), an autosomal dominant subtype of migraine, is a channelopathy presenting with severe headache, visual field defect, paresthesia, unilateral motor deficit, encephalopathy, seizures and aphasia. This cross-sectional study was conducted over 10 months in children aged 1-18 years suspected at tertiary care pediatric hospital. Fourteen were screened five genetically confirmed FHM included. The symptoms the population paroxysmal hemiparesis (5/5), headache (5/5)...
A 19-month-old male was referred to us with acute febrile illness and respiratory distressfollowed by continuous jerky movements.The parents described them as abnormal movements beginning in the left upper limb, then lower limb next two days, followed spread whole body, including tongue, eyes head end of week.These increased during periods crying or agitation, subsided sleep.He third born tonon-consanguineous exclusively breastfed.He had a pre-existing mild developmental delay.On...
Chromosome Xp22.3 deletion syndrome is a very rare contiguous gene with variable phenotype due to the of genes from distal short arm X chromosome (Xp), including short-stature homeobox ( SHOX ), anosmin-1 ANOS1) , arylsulfatase (ARSL) neuroligin-4 NLGN4) and steroid sulfatase STS) genes. We have reviewed available literature on syndrome. A 10-year-old boy presented global developmental delay, generalized epilepsy, decreased hearing, hyperactivity. He had no significant family history....
A neonate born to nonconsanguineous parents was evaluated for dysmorphic features. The at term by normal vaginal delivery. mother has had epilepsy 12 years and been on sodium valproate (700 mg/day) since conception throughout pregnancy. Examination revealed facial dysmorphism, including triangular forehead, sparse arched eyebrows, telecanthus, flat nasal bridge, long thin upper vermilion border, smooth philtrum, low-set ears. limb anomalies observed were arachnodactyly, wrist elbow...
The phenotypical profile of cardiovascular malformations in patients with congenital rubella syndrome (CRS) is varied. We aimed to describe the cardiac defects among CRS detected sentinel surveillance India during 2016-22.Sentinel sites enrolled infants suspected based on presence defects, hearing impairment, eye signs, or maternal history febrile rash illness. Suspected cases underwent detailed systemic examination, including echocardiography and serological investigation for rubella....
Background: To define the varied presentations of Guillain-Barré syndrome in children COVID era and 6 months’ follow-up outcome. Methods: Ambispective study 15 duration involving with aged 1 month to 18 years at a tertiary care pediatric hospital. They were categorized into groups A B based on COVID-19 serology testing. Hughes Disability Scale was used for disability assessment. Modified Rankin scale improvement assessment follow-up. Results: Of 19 syndrome, 9 (47%) females 10 (53%) males....
Introduction: The prevalence and patterns of sleep disturbances in neurocutaneous syndromes are variable understudied. Methods: Cross-sectional study for 18 months at a tertiary care pediatric hospital, involving 100 children with aged between 4 10 years using the Children's Sleep Habits Questionnaire-Abbreviated. Results: In syndromes, 47 (47%) had significant problems. subgroup analysis, 7 17 neurofibromatosis 1, 24 63 tuberous sclerosis complex, 12 Sturge-Weber syndrome, 2 3 linear nevus...
A 13-year-old boy of nonconsanguineous parents presented with abnormal body movements, gait difficulty, and slurring speech for 2 years. On examination, he had rigidity, dystonia, dysarthria, drooling. Ophthalmologic examination revealed bilateral Kayser-Fleischer rings. He elevated serum "free" copper levels (41.2 μg/dL [range:10-15]), 24-hour urine (895.7 μg/d [range:<60]), reduced ceruloplasmin (4.3 mg/dL (range:20-40]). MRI "face giant panda" appearance (Figure A), T2-fluid attenuated...