Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant.

The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The variant is in the Nav1.

Neuropalliative Care Needs Checklist for Motor Neuron Disease and Parkinson's Disease: A Biopsychosocial Approach.

Objectives: Neurodegenerative disorders necessitate comprehensive palliative care due to their progressive and irreversible nature. Limited studies have explored the comprehensive assessment needs of this population. This present study is designed to develop a checklist for evaluating the palliative care needs of individuals with motor neuron disease (MND) and Parkinson's disease (PD).

Biomarkers of neurodegeneration across the Global South.

Research on neurodegenerative diseases has predominantly focused on high-income countries in the Global North. This Series paper describes the state of biomarker evidence for neurodegeneration in the Global South, including Latin America, Africa, and countries in south, east, and southeast Asia. Latin America shows growth in fluid biomarker and neuroimaging research, with notable advancements in genetics.

Cardiac MRI in Duchenne and Becker Muscular Dystrophy.

Background And Objectives: Cardiovascular magnetic resonance imaging (CMRI) is the noninvasive technique of choice for early detection of cardiac involvement in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively), but is seldom used in routine clinical practice in the Indian context. We sought to determine the prevalence of CMRI abnormalities in patients with DMD and BMD and to compare the CMRI parameters with the phenotypic and genotypic characteristics.

Methods: A prospective, observational study was conducted on patients genetically diagnosed with DMD and BMD who could complete CMRI between March 2020 and March 2022.

'The phenotypic conundrum of Trp748Ser variant in POLG gene: a report of two patients'.

We present two cases of a 23-years and 32-years old female respectively, who presented with recurrent seizures, ataxia, dysarthria, psychomotor slowing. Magnetic resonance imaging (MRI) of the brain in the first patient revealed T2/FLAIR hyperintensity in the bilateral thalamus and cerebellar white matter with diffusion restriction, with no contrast enhancement. In the second patient, magnetic resonance imaging of brain showed FLAIR hyperintensity in precuneus while CSF showed raised HSV IgG titre on first presentation leading to suspicion of infective etiology.

Imaging Markers of Multiple System Atrophy and Their Association With Disease Severity: A Cross-Sectional Study.

Background Multiple system atrophy (MSA) is a rare, adult-onset neurodegenerative disorder marked by autonomic failure, parkinsonism, and cerebellar ataxia, with subtypes classified as parkinsonian (MSA-P), cerebellar (MSA-C), and autonomic (MSA-A). This study aims to identify MRI biomarkers for MSA and their correlation with disease severity. Methodology A total of 30 patients with probable MSA (20 MSA-C, 10 MSA-P) aged 45-65 years were studied.

Exposure of Pregnancy to Pregestational Diabetes, Gestational Diabetes, and Antidiabetic Medications With Especial Focus on Major Congenital and Cardiac Malformations in Offspring.

The global prevalence of type 2 diabetes mellitus (T2DM) is increasing. T2DM is more common in patients with psychiatric disorders and those who take certain psychotropic drugs. T2DM occurs in 2%-7% of women of reproductive age.

Regression: Understanding What Covariates and Confounds Do in Adjusted Analyses.

The use of regression analysis is common in research. This article presents an introductory section that explains basic terms and concepts such as independent and dependent variables (IVs and DVs), covariates and confounds, zero-order correlations and multiple correlations, variance explained by variables and shared variance, bivariate and multivariable linear regression, line of least squares and residuals, unadjusted and adjusted analyses, unstandardized () and standardized (β) coefficients, adjusted , interaction terms, and others. Next, this article presents a more advanced section with the help of 3 examples; the raw data files for these examples are included in supplementary materials, and readers are encouraged to download the data files and run the regressions on their own in order to better follow what is explained in the text (this, however, is not mandatory, and readers who do not do so can also follow the discussions in the text).

Effect of (Spleen-6) Acupoint for Pain Management in Primary Dysmenorrhea: An Updated Systematic Review and Meta-Analysis.

Objectives: Available literature highlights the effectiveness of Acupuncture or Acupressure on the Spleen 6 acupoint ( or SP-6) for pain management in primary dysmenorrhea (PD). The objective of the current systematic review and meta-analysis is to provide an updated assessment of available randomized and non-randomized controlled trials and to compare the effectiveness of acupressure and acupuncture stimulation of among patients with PD.

Methods: We conducted a comprehensive literature search on various electronic databases including Embase, PubMed, and the Cochrane Library from January 1990 to March 2023 to identify the comparative studies (randomized and non-randomized controlled trials) that assessed the effects of acupressure or acupuncture on the acupoint in patients with PD.

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.

Objective: Recessive variants in the PINK1 gene are known causes of early-onset Parkinson's disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson's disease (PARK-PINK1) mutations.

Methods: We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.

Qualitative assessment of evidence-informed adolescent mental health policymaking in India: insights from project SAMA.

Background: The importance of evidence-informed health policymaking is widely recognized. However, many low- and middle-income countries lack evidence-informed mental health policies due to insufficient data, stigma or lack of resources. Various policies address adolescent mental health in India, but published knowledge on their evidence-informed nature is limited.

Exploring psychosocial factors in the functional recovery of children with severe mental disorders: A qualitative content analysis.

Background: Severe mental disorders during childhood and adolescence can be chronic and disturbing, and may result in serious impairments in functioning. Research on the influence of such factors in the functional recovery of children diagnosed with severe mental illnesses is scant. This study aims to enhance understanding of the patterns and descriptions of social factors in the optimal functioning of children with severe mental illnesses.

Super-Speciality in India: A Boon or Bane?

In the past few decades, super-specialization has gained popularity in many medical disciplines. It provides professionals with a sturdy platform for advanced research and helps to deliver focused and extensive care in the fields of trauma and critical care, which can translate into good clinical outcomes for patients. Although this drift may bring about novel research opportunities, it may limit the number of doctors attending to the basic healthcare needs of the population.

Efficacy and Safety Profile of Gamma Knife Radiosurgery in Classic and Idiopathic Trigeminal Neuralgia.

Background: Trigeminal neuralgia is a debilitating disease, with severe recurrent paroxysms of shock-like facial pain. Although pharmacotherapy may suffice in the majority of cases, a proportion of patients require surgical treatment. Gamma knife radiosurgery (GKRS) represents a potential noninvasive alternative to surgery in these patients.

Identification of Putative Biomarkers in Cerebral Palsy: A Meta-Analysis and Meta-Regression.

Background: Cerebral palsy (CP) is a neurological disorder that impairs motor abilities. Identifying maternal biomarker derangements can facilitate further evaluation for early diagnosis, potentially leading to improved clinical outcomes. This study investigates the association between maternal biomarker derangements and CP development during the antenatal period.

Garba Dance Is Effective in Parkinson's Disease Patients: A Pilot Study.

Background: Dance as therapy is gaining attention as an adjuvant option for Parkinson's disease (PD). Assessing culturally popular dance forms is crucial for promoting the acceptance of dance therapy in a culturally sensitive context.

Objectives: The pilot study evaluated the efficacy of Garba dance for alleviating motor symptoms, nonmotor symptoms, cognitive functions, and mood.