Publications by authors named "Satish Vasant Khadilkar"
Background: Hereditary muscle disorders are clinically and genetically heterogeneous. Limited information is available on their genetic makeup and their prevalence in India.
Objective: To study the genetic basis of prevalent hereditary myopathies.
Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world. Our goal was to determine for the first time the clinical- and gene-variant spectrum of genetic myopathies in a substantial cohort study of the Indian subcontinent. In this cohort study, we performed the first large clinical exome sequencing (ES) study with phenotype correlation on 207 clinically well-characterized inherited myopathy-suspected patients from the Indian subcontinent with diverse ethnicities.
View Article and Find Full Text PDFBackground: Charcot-Marie-Tooth (CMT) disease is clinically and genetically heterogeneous. There are no published series describing clinical, electrophysiological, and genetic information on CMT from the Indian subcontinent. Magnetic resonance imaging (MRI) neurography technique provides useful information about the plexus and roots and can be employed in patients with CMT.
View Article and Find Full Text PDFBackground: Mechanical thrombectomy (MT) is the most effective treatment in large vessel occlusion (LVO). We have analyzed our initial experience of MT of 137 patients in anterior circulation (AC) and posterior circulation (PC) LVO using Solitaire stent retriever device.
Methods: Retrospective cohort analysis of 112 AC and 25 PC acute ischemic strokes was done considering various baseline characteristics, risk factors, National Institute of Health Stroke Scale (NIHSS) change, revascularization rate, complications, and functional outcome at 3 months using modified Rankin score.