Genetic Landscape of Dystonia in Asian Indians.

Background: Genomic variations associated with dystonia in Asian Indians remain largely unknown.

Objectives: To identify genomic alterations associated with dystonia in the Asian Indian population using next generation sequencing approaches.

Methods: From September 2018 to December 2023, we enrolled 745 individuals including probands with dystonia and family members, in the Indian Movement Disorder Registry and Biobank.

Utility of Tau PET in the diagnostic work up of neurodegenerative dementia among Indian patients.

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).

Clinical Reasoning: A 50-Year-Old Man With Ataxia, Dystonia, and Abnormal Ocular Movements.

A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness, and the family history was unremarkable. This case presents the diagnostic approach to adult-onset cerebellar ataxia with dystonia and abnormal eye movements.

Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India.

Background And Objectives: Cervical flexion-induced myelopathy, also known as Hirayama disease (HD), is a lower motor neuron disorder seen mainly in adolescents and young adults, affecting the C7-T1 myotomes, presenting as asymmetric weakness with wasting of one or both the distal upper limbs. We aimed to describe the clinical features, electrophysiology, and radiologic features of HD in a tertiary care institute in northern India.

Methods: One hundred and forty patients between 2017 and 2022 with clinical and imaging features consistent with HD were retrospectively reviewed from the All India Institute of Medical Sciences-Comprehensive Neuromuscular Diseases center database.

Safety and Efficacy of Injection Tenecteplase in 4.5 to 24 Hours Imaging Eligible Window Patients with Acute Ischemic Stroke (EAST-AIS) - Study Protocol.

Background And Aims: Tenecteplase is used as the standard of care treatment for thrombolysis in acute ischemic stroke (AIS) patients within 4.5 h of symptom onset. Documented reports were less certain to claim the benefits of it in an extended window period.

Navigating the Nexus: Acute Kidney Injury in Acute Stroke - A Prospective Cohort Study.

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.

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.

Correlation 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.

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.

Evaluation of Loop-Mediated Isothermal Amplification Assay in Diagnosing Tuberculous Meningitis.

Background: 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.

Effectiveness of Yoga in Modulating Markers of Immunity and Inflammation: A Systematic Review and Meta-Analysis.

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.

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.

The 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.

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.

Facioscapulohumeral 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.

Validity of Montreal Cognitive Assessment to Detect Cognitive Impairment in Individuals with Type 2 Diabetes.

Introduction: 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.

The Pitfalls of NIHSS: Time for a New Clinical Acute Stroke Severity Scoring System in the Emergency?

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.

Antithrombotic Treatment for Stroke Prevention in Cervical Artery Dissection: The STOP-CAD Study.

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.