A5055706418- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Clinical Laboratory Practices and Quality Control
- Cardiomyopathy and Myosin Studies
- Meta-analysis and systematic reviews
- Parkinson's Disease and Spinal Disorders
- Peripheral Neuropathies and Disorders
- Genomics and Rare Diseases
- Neuroendocrine Tumor Research Advances
- Histiocytic Disorders and Treatments
- Spine and Intervertebral Disc Pathology
- Botulinum Toxin and Related Neurological Disorders
- AI in cancer detection
- Peptidase Inhibition and Analysis
- Prosthetics and Rehabilitation Robotics
- Nuclear Structure and Function
- Glycosylation and Glycoproteins Research
- Cervical and Thoracic Myelopathy
- Statistical Methods in Clinical Trials
- Hereditary Neurological Disorders
- Cardiovascular Issues in Pregnancy
- Genetics, Aging, and Longevity in Model Organisms
- IgG4-Related and Inflammatory Diseases
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
National Institute of Mental Health and Neurosciences
2022-2024
Rajiv Gandhi Cancer Institute and Research Centre
2024
The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis.We sequenced the genomes of six persons with autosomal dominant LOCA who were members three French Canadian families and identified a candidate pathogenic repeat expansion. We then tested for association between expansion disease in two independent case-control series - one (66 patients 209 controls) other German (228 199 controls). also genotyped 20 Australian 31 Indian index patients. assayed gene protein...
The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) FKRP related congenital dystrophies.To identify the distinct genotype phenotype pattern in Indian patients with gene mutations.We retrospectively reviewed case files having a genetically confirmed mutation. All had undergone genetic testing using next-generation sequencing.Our included five males four females presenting between 1.5...
Background: Electrocardiography (ECG) remains an excellent screening tool for cardiac assessment in Duchenne muscular dystrophy (DMD), but accurate interpretation requires comparison with age-matched healthy controls. Objective: We examined various ECG parameters children DMD, Methods: Standard 12-lead tracings of serial patients were screened quality and selected. Controls healthy, school-going children. Both quantitative qualitative analyzed. Results: After screening, ECGs from 252 DMD...
Introduction: GNE myopathy is a rare slowly progressive adult-onset distal with autosomal recessive inheritance. It has distinctive features of quadriceps sparing preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10–20 years after onset. This study analyzes the phenotype-genotype characteristics and disease progression in large cohort GNEM from India. Materials methods: Retrospective observational on quaternary neurology referral hospital southern...
Inflammatory myofibroblastic tumors (IMTs) are a distinct entity of mesenchymal tumors. We present the challenges in their diagnosis and management.A retrospective study with detailed clinical, radiological, histopathological (HPE) features along management outcome 10 biopsy-proven patients IMT, between 2001 2020.The location included intracranial (5), orbital (4), spinal (1) M : F = 7 3. The mean age onset was third decade. commonest symptom headache, while proptosis blurred vision occurred...
Introduction. Timely and accurate diagnosis of diseases is crucial for effective patient care. Turnaround time (TAT) in surgical pathology, defined as the between accessioning sample reporting results, a key performance indicator reflecting quality efficiency. This study explores factors affecting TAT diagnostic biopsies tertiary oncology hospital. Methods. A 1-month pilot was conducted, focusing on 695 in-house biopsies. Biopsies were categorized routine (requiring only hematoxylin eosin...
Abstract Background and Objectives: Cardiovascular magnetic resonance imaging (CMRI) is the noninvasive technique of choice for early detection cardiac involvement in Duchenne Becker muscular dystrophy (DMD BMD, respectively), but seldom used routine clinical practice Indian context. We sought to determine prevalence CMRI abnormalities patients with DMD BMD compare parameters phenotypic genotypic characteristics. Methods: A prospective, observational study was conducted on genetically...
Background: The late-onset cerebellar ataxias (LOCAs) have until recently resisted molecular diagnosis. Contributing to this diagnostic gap is that non-coding structural variations, such as repeat expansions, are not fully accessible standard short-read sequencing analysis. Methods: We combined bioinformatics analysis of whole-genome and long-read search for expansions in patients with LOCA. enrolled 66 French-Canadian, 228 German, 20 Australian 31 Indian patients. Pathogenic mechanisms were...
Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H characterized early onset and slowly progressing motor sensory deficits in the distal extremities, along with foot deformities. We describe a patient who presented rapidly flaccid quadriparesis during postpartum period, which improved significantly steroid therapy. Magnetic resonance imaging ultrasonography demonstrated considerable nerve thickening increased...
Thymic pathology is common in Myasthenia Gravis(MG) and plays a crucial role its pathogenesis clinical outcome. This study aims to discuss the clinicohistopathological spectrum of thymic lesions MG.In this retrospective study, MG patients who underwent thymectomy from 2011 2020 were included. Clinical, radiological, serological, histopathological details are described.Of 83 patients(F = 45; M 38), 7(8%) had ocular myasthenia, remaining 76(92%) generalized form. At onset, median age was 36...