Publications by authors named "Venugopalan Vishnu"
Genetic Landscape of Dystonia in Asian Indians.
Mov Disord Clin Pract
January 2025
Article Synopsis
- The study aimed to identify genomic variations linked to dystonia in the Asian Indian population using next-generation sequencing.
- A total of 745 individuals were enrolled, and whole exome sequencing (WES) was performed on 267 patients, revealing pathogenic variants in 20.2% of them, including 14 novel variants.
- The gene THAP1 was found to be the most common associated with dystonia, and factors like multifocal/generalized distribution and family history increased the likelihood of finding positive results from WES.
Background And Objectives: Tau PET is being increasingly appraised as a novel diagnostic modality for dementia work up. Given limited data among South Asians, we assessed the frequency, patterns, phenotypic associations and incremental value of positive Tau PET scans in clinically diagnosed neurodegenerative dementia.
Methods: This cross-sectional study recruited consecutive patients of Alzheimer's disease (AD) and non-AD syndromes (September 2021 to October 2022, India).
Article Synopsis
- A 50-year-old male exhibited a 10-year progression of cerebellar ataxia, multifocal dystonia with tremors, and abnormal eye movements but showed no cognitive decline or other neurological issues.
- This case emphasizes the importance of accurately diagnosing adult-onset cerebellar ataxia by detailing the patient's symptoms and clinical evaluation.
- It also illustrates how genomic testing, particularly whole-exome sequencing, can aid in understanding these complex conditions and enhance clinical phenotyping.
Article Synopsis
- Cervical flexion-induced myelopathy, or Hirayama disease (HD), primarily affects young males aged about 17.8 years, leading to asymmetric weakness and wasting in distal upper limbs, with future emphasis on early diagnosis and treatment.
- Retrospective analysis of 140 patients showed that nearly half had unilateral symptoms, and most had ongoing progression of the disease; abnormal electromyography findings were common, with significant MRI changes noted.
- Early identification and management of HD are crucial to prevent severe disability, emphasizing the need for dynamic MRI and aggressive treatment strategies in affected individuals.
Article Synopsis
- Cervical artery dissection (CeAD) is a leading cause of ischemic strokes in young adults, and this study explored the effects of intravenous thrombolysis (IVT) on patients with CeAD and stroke symptoms.
- Analyzed data from the STOP-CAD study, it found that IVT significantly improved functional independence after 90 days in patients without increasing the risk of symptomatic intracranial hemorrhage.
- The results suggest that IVT is a beneficial treatment for eligible patients with CeAD, aligning with current medical guidelines on its use.
Safety and Efficacy of Injection Tenecteplase in 4.5 to 24 Hours Imaging Eligible Window Patients with Acute Ischemic Stroke (EAST-AIS) - Study Protocol.
Ann Indian Acad Neurol
July 2024
Article Synopsis
- The EAST-AIS trial aims to assess the effectiveness of tenecteplase for treating acute ischemic stroke in patients treated 4.5-24 hours after symptoms start, rather than the standard 4.5 hours.
- The study involves 100 participants, with half receiving tenecteplase and the other half a placebo, focusing on patients with specific eligibility criteria such as age and stroke severity.
- The main goal is to evaluate the safety and efficacy of tenecteplase, measured by the modified Ranking Scale (mRS) score 90 days after the stroke.
Background: Acute kidney injury (AKI) is prevalent in patients with acute stroke. Although AKI is linked to poor clinical outcomes, data about its incidence and effect on stroke outcomes is limited.
Methods: This was a prospective observational study carried out at a single tertiary care center that analyzed the data of 204 consecutive subjects with acute ischemic stroke and intracerebral hemorrhage.
MEFFNet: Forecasting Myoelectric Indices of Muscle Fatigue in Healthy and Post-Stroke During Voluntary and FES-Induced Dynamic Contractions.
IEEE Trans Neural Syst Rehabil Eng
July 2024
Myoelectric indices forecasting is important for muscle fatigue monitoring in wearable technologies, adaptive control of assistive devices like exoskeletons and prostheses, functional electrical stimulation (FES)-based Neuroprostheses, and more. Non-stationary temporal development of these indices in dynamic contractions makes forecasting difficult. This study aims at incorporating transfer learning into a deep learning model, Myoelectric Fatigue Forecasting Network (MEFFNet), to forecast myoelectric indices of fatigue (both time and frequency domain) obtained during voluntary and FES-induced dynamic contractions in healthy and post-stroke subjects respectively.
View Article and Find Full Text PDFCorrelation Between Optical Coherence Tomography Angiography Findings at 3 to 6 Weeks and Functional Outcome at 3 Months Following Acute Ischaemic Stroke Due to Extracranial Carotid Artery Atherosclerotic Disease.
Neuroophthalmology
January 2024
We wanted to evaluate if optical coherence tomography angiography OCTA findings could predict the functional outcome in extracranial carotid artery atherosclerotic disease (ECAD) associated stroke. This exploratory study was performed on adults with acute ischaemic stroke due to ECAD at 3-6 weeks following stroke onset with risk factor matched controls without carotid artery stenosis. Twenty-three stroke patients (cases) and 23 controls were enrolled.
View Article and Find Full Text PDFBackground: Resource-limited settings like India need a simple, quick, and temperature-independent point-of-care diagnostic test that can diagnose tuberculous meningitis (TBM) at the earliest.
Methods: A prospective study was carried out at a tertiary care center in North India wherein 50 subjects suspected of TBM were recruited and followed up for six months between January 2019 and December 2020. The aim was to evaluate the performance of loop-mediated isothermal amplification (TB-LAMP) in diagnosing TBM as compared to a composite reference standard (CRS), mycobacteria growth indicator tube 960 (MGIT 960) culture, and GeneXpert.
Chronic inflammation is central to the pathogenesis of many chronic inflammatory conditions. This review aims to analyze whether the practice of yoga, or yogic meditation and breathing, has any effect on the levels of inflammatory cytokines and other inflammatory markers in patients with various chronic inflammatory diseases such as rheumatoid arthritis, neoplastic disorders, and asthma, as well as in healthy subjects, compared to usual care or sham interventions. A comprehensive search of databases (PubMed, CENTRAL, Embase, and CINAHL) was performed.
View Article and Find Full Text PDFThe gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC meeting on Genetic diagnosis, clinical outcome measures, and biomarkers.
View Article and Find Full Text PDFFacioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world's population lives in Asia, so a significant percentage of the world's FSHD participants is expected to live there. To date, most FSHD studies have involved individuals of European descent, yet small-scale studies of East-Asian populations suggest that the likelihood of developing FSHD may vary.
View Article and Find Full Text PDFIntroduction: Guidelines recommend screening older people (> 60-65 years) with type 2 diabetes (T2D) for cognitive impairment, as it has implications in the management of diabetes. The Montreal Cognitive Assessment (MoCA) is a sensitive test for the detection of mild cognitive impairment (MCI) in the general population, but its validity in T2D has not been established.
Methods: We administered MoCA to patients with T2D (age ≥ 60 years) and controls (no T2D), along with a culturally validated neuropsychological battery and functional activity questionnaire.
Stroke is the second leading cause of death and a major cause of disability worldwide. Stroke severity scales serve as reliable means to track a patient's neurological deficit, predict outcome, and guide treatment decisions in clinical practice. The National Institute of Health Stroke Scale (NIHSS) was introduced over 30 years ago, marking a significant milestone in the field of stroke.
View Article and Find Full Text PDFBridging the gap between statistical significance and clinical relevance: A systematic review of minimum clinically important difference (MCID) thresholds of scales reported in movement disorders research.
Heliyon
March 2024
Article Synopsis
- The study focuses on Minimum Clinically Important Difference (MCID), which is the smallest change in a measure that has real clinical significance, helping with treatment assessment and outcome measure development.
- The systematic review analyzed 2763 reports, ultimately including 32 studies, with most being of good quality, and highlighted the Unified Parkinson's Disease Rating Scale (UPDRS) as the most frequently evaluated.
- The review provides a comprehensive list of MCID thresholds for various scales used in movement disorders, emphasizing the importance of standardized MCID measures for future research.
Article Synopsis
- Primary CNS Vasculitis (PCNSV) is a rare inflammatory condition affecting blood vessels in the central nervous system, making diagnosis complex due to its variability and lack of clear laboratory markers.
- A study analyzed 56 patients with confirmed PCNSV, finding that most exhibited symptoms in the cerebral hemisphere or brainstem, with common MRI findings being bilateral white matter lesions, predominantly in the frontal lobe.
- Key imaging features included a high prevalence of susceptibility-weighted imaging (SWI) hemorrhages and a distinct dot-linear enhancement pattern on T1-weighted images, suggesting that these imaging characteristics should be considered for improved diagnostic criteria for PCNSV.
Background: Small, randomized trials of patients with cervical artery dissection showed conflicting results regarding optimal stroke prevention strategies. We aimed to compare outcomes in patients with cervical artery dissection treated with antiplatelets versus anticoagulation.
Methods: This is a multicenter observational retrospective international study (16 countries, 63 sites) that included patients with cervical artery dissection without major trauma.