A5113481019- Muscle Physiology and Disorders
- Long-Term Effects of COVID-19
- Genetic Neurodegenerative Diseases
- Peripheral Neuropathies and Disorders
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Hereditary Neurological Disorders
- Medical Imaging and Analysis
- Ion channel regulation and function
- Coronary Artery Anomalies
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Advanced Glycation End Products research
- Diet, Metabolism, and Disease
- Metalloenzymes and iron-sulfur proteins
- Neurological diseases and metabolism
- Liver Disease Diagnosis and Treatment
- Diabetes and associated disorders
- Natural Antidiabetic Agents Studies
- CRISPR and Genetic Engineering
- Congenital Heart Disease Studies
- RNA modifications and cancer
- COVID-19 and Mental Health
- Facial Nerve Paralysis Treatment and Research
- Global Health and Epidemiology
- Spine and Intervertebral Disc Pathology
All India Institute of Medical Sciences
2021-2025
Nizam's Institute of Medical Sciences
2022
Lady Hardinge Medical College
2021
Jamia Hamdard
2020
Institute of Medical Sciences
2020
Abstract Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle countries (LMICs) with limited access diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked inequality hampers understanding of diversity hinders accurate all settings. We developed a cloud-based transcontinental...
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common in adults, and it associated with local D4Z4 chromatin relaxation, mostly via contraction of macrosatellite repeat array on chromosome 4q35. In this study, we aimed to investigate use Optical Genome Mapping (OGM) as a diagnostic tool for testing FSHD cases from UK India compare OGM performance that traditional techniques such linear gel (LGE) Pulsed-field electrophoresis (PFGE) Southern blotting (SB). A total 6 confirmed...
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent world's population lives in Asia, so a significant percentage FSHD participants expected to live there. To date, studies have involved individuals European descent, yet small-scale East-Asian populations suggest that likelihood developing may vary. Here, we present first genetically confirmed cohort Indian ancestry, which suggests pathogenic FSHD1 allele size distribution...
Background Kennedy's disease (KD) is a rare, insidiously progressive lower motor neuron syndrome characterised by amyotrophy involving the appendicular or bulbar musculature of adult males in their fourth to fifth decade. There are no large series from Indian subcontinent describing clinical-genetic and laboratory spectrum KD. Aim To describe clinical, electrophysiologic, metabolic genetic profile patients with Methods We conducted retrospective review ten genetically confirmed KD patients....
Background: Non-alcoholic fatty liver disease (NAFLD) also referred as metabolic (dysfunction) associated disease.Type 2 diabetes mellitus (T2DM) is a major cause in progression of NAFLD and nonalcoholic steatohepatitis (NASH).The aim the present study to assess activity enzymes T2DM North Indian population.Method: This was cross-sectional descriptive clinic-based patients with T2DM.A total 612 participants (226 healthy controls 386 T2DM) were recruited.Body mass index (BMI), including...
To study impact of COVID-19 pandemic on frequency, clinical/electrophysiological profile and treatment outcomes in pediatric Guillain-Barré syndrome (GBS).GBS is the most frequent cause acute flaccid paralysis. The effect GBS unclear literature.We conducted an ambispective, multicentric, cohort involving 12 27 centres Consortium, during two periods: pre-COVID-19 (March-August 2019) 2020). Children ≤12 years who satisfied National Institute Neurological Diseases Stroke criteria for...
Studies conducted during the coronavirus disease 2019 (COVID-19) pandemic have reported varied data regarding incidence of Guillain-Barre syndrome (GBS). The present study investigated demographic and clinical features, management, outcomes patients with GBS a specified period COVID-19 pandemic, compared these features to those in previous year.A multicenter, ambispective cohort including 26 centers across India was conducted. Data from pre-COVID-19 (March 1 August 31, 2019) were collected...
Abstract Background Myotonic dystrophy type 1 (DM1) is one of the most common inherited muscular dystrophies in adults. It caused by CTG repeat expansions 3' untranslated region (UTR) DMPK gene on Chromosome 19. Apart from muscle, disease can involve eye, heart, brain and endocrine system. Cognitive sleep disturbances are but poorly recognized non‐motor manifestations DM1. Method We plan to recruit 30 genetically proven DM1 patients prospective MRC‐funded International Centre for Genomic...