A5061373006- Trace Elements in Health
- Heavy Metal Exposure and Toxicity
- Neurological diseases and metabolism
- Botulinum Toxin and Related Neurological Disorders
- Neurological and metabolic disorders
- Metabolism and Genetic Disorders
- Iron Metabolism and Disorders
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Aluminum toxicity and tolerance in plants and animals
- Pharmacological Effects and Toxicity Studies
- Orthopedic Surgery and Rehabilitation
- Porphyrin Metabolism and Disorders
- Pathogenesis and Treatment of Hiccups
- Infectious Encephalopathies and Encephalitis
- Peripheral Nerve Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Neurogenetic and Muscular Disorders Research
- Sarcoidosis and Beryllium Toxicity Research
- Acute Ischemic Stroke Management
- Retinal and Optic Conditions
- Autoimmune Neurological Disorders and Treatments
- Folate and B Vitamins Research
- Advanced biosensing and bioanalysis techniques
- Chemical Reactions and Mechanisms
Kokilaben Dhirubhai Ambani Hospital
2013-2025
University College of Medical Sciences
2022
The Memory Clinic
2020
Leipzig Heart Institute
2019
Government Dental College and Hospital
2017
University Hospital Münster
2016
University of Münster
2016
Royal Adelaide Hospital
2009-2011
The University of Adelaide
2009-2011
Jaslok Hospital
2006-2008
<strong>Background:</strong> Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition the liver and brain, affecting children young adults. Without treatment invariably fatal. Though treatments for WD have been available since 1950s, continues to be associated with considerable morbidity mortality because of missed diagnosis, delayed or inadequate treatment. In this paper we survey WD-related literature order review recent advances...
We describe intermittent or sustained severe involuntary tongue protrusion in patients with a dystonic syndrome. Speech, swallowing, and breathing difficulties can be enough to life threatening. Causes include neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, Lesch-Nyhan syndrome, postanoxic tardive dystonia. The pathophysiology of remains unknown. Tongue dystonia is often unresponsive oral drugs but may benefit from botulinum toxin injections into the genioglossus...
Wilson's disease (WD) is an inherited disorder of copper metabolism. Despite being treatable, patients with WD suffer severe disabilities due to delay in initiation and difficulty monitoring treatment. We propose a two tier, Global Assessment Scale for Disease (GAS WD) that grades the multisystemic manifestations disease. Tier 1 scores global disability four domains: Liver, Cognition behavior, Motor, Osseomuscular. 2 multidimensional scale fine grained evaluation neurological dysfunction....
Summary Wilson disease (WD) is an autosomal recessive disorder resulting from mutations in the ATP7B gene, with over 600 described. Identification of has made genetic diagnosis WD feasible many countries. The heterogeneity mutants is, however, yet to be identified Indian population. We analyzed mutational pattern a large region Western India. studied patients ( n = 52) for gene cohort families and also first‐degree relatives 126). All 21 exon–intron boundaries were amplified directly...
The goal of this work was to integrate results from clinical trials related transcranial direct current stimulation (tDCS) treatment Alzheimers disease (AD) into a machine learning model the understand its impact on progression over decade. main contributions are- firstly, extension otherwise sparse data for tDCS in AD patients predict patient outcomes Secondly, it provides evidence long-term improvement with tDCS. Thirdly, calculates an optimal regimen cognitive function AD. This paper...
Abstract The genomic landscape of the Indian population, particularly for age-related disorders like Parkinson’s disease (PD) remains underrepresented in global research. Genetic variability PD has been studied predominantly European populations, offering limited insights into its role within population. To address this gap, we conducted first pan-India survey involving 4,806 cases and 6,364 controls, complemented by a meta-analysis integrating summary statistics from multi-ancestry...
Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, aceruloplasminaemia. Data on genetically defined Indian-subcontinent cases are limited. We report 6 patients from the movement disorder MRI basal ganglia deposition, compatible diagnosis of an syndrome. All were screened for...
AIM:To study the effect of anti-copper treatment for survival hepatic cells expressing different ATP7B mutations in cell culture. METHODS:The most common Wilson disease (WD) p.H1069Q, p.R778L and p.C271*, found gene encoding a liver copper transporter, were studied.The represent major genotypes United States Europe, China, India, respectively.A human hepatoma line previously established to carry knockout was used stably express WD mutants.mRNA protein expression mutant , cells, apoptosis,...
Abstract We report on a young woman who survived acute liver failure (ALF) without transplant. During the ALF, she developed disabling, levodopa‐unresponsive, symmetrical Parkinsonism. This was characterized by severe bradykinesia, mild rigidity, mutism, and prominent gait impairment. Magnetic resonance imaging (MRI) showed bilateral T1W pallidal hyperintensities. Parkinsonism MRI changes remitted in parallel with normalization of hepatic function. implicate excessive manganese deposition...
Mutations in the copper (Cu) transporter gene ATP7B, primary cause of Wilson disease (WD), result high liver Cu and death hepatocytes. chelators zinc salts are two most important drugs used treatment WD patients; however, molecular mechanisms with regard to ATP7B expression have not been determined. A targeted knockout (KO) was established widely human hepatoma cell line, HepG2 for studies pathogenesis disease. KO cells showed similar growth, uptake, release, as compared parental cells....
Cryptococcal meningitis is being increasingly described in immunocompetent adults. We describe here a young immuncompetent adult of Indian origin from Ghana, West Africa with cryptococcal who had several ups and downs during his treatment. First he developed neurologic worsening due to premature transition intensive consolidation phase therapy. Subsequently deteriorated "immune reconstitution inflammatory syndrome (IRIS)"
An 18 year old man presented after developing progressive dysarthria and abnormal limb postures. From the age of 15 he had been increasingly irritable, belligerent, difficult to discipline. He played truant from school, wandered aimlessly around city claiming be a dynamic entrepreneur, heard voices plotting against him. Examination revealed psychosis, severe dysarthria, generalised dystonia with prominent oromandibular involvement. A diagnostic eye sign was noted (fig 1⇓). Treatment for...
COVID-19 has a wide-ranging and multimodal neurological impact. First, several symptoms complications are commonly observed in patients with COVID-19. Second, medications vaccinations used to counter the disease can have secondary effects. Third, pre-existing disorders bear an increased health-risk due And finally, pandemic disrupted delivery of vaccination services, associated educational research programs. In this article we review various channels through which is known or projected...
Background: There is dismal rate of recanalization following intravenous thrombolysis large vessel occlusive ischemic stroke. Trials on use mechanical clot retrievers in acute stroke have used time from onset and clinical deficit at presentation as the main indications for intervention. Materials Methods: Retrospective analysis case records seen between May 2009 October 2011 was done. It revealed 23 patients with treated by thrombectomy using Penumbra system (PS). We magnetic resonance (MR)...
OBJECTIVE: To study the neurological outcomes of Wilson disease (WD) following decoppering. BACKGROUND: Judicious decoppering can prevent WD related mortality and reverse disability. DESIGN/METHODS: From 2005-2013 we prospectively recruited 100 consecutive patients with All received, penicillamine or trientine in recommmended doses (125 mg/day - up to 2 gm/day), initial phase treatment. Treatment was tracked by using standard specific scale, Global Assessment Scale Disease (GAS for WD)....