A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant.

PGK1 (phosphoglycerate kinase-1) is required for ATP production in the body. Mutation in the PGK1 gene causes a rare, inherited metabolic disorder causing deficiency of enzyme PGK1, leading to hemolytic anemia, neurological symptoms, and muscle weakness. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a PGK1 variant by isolating fibroblasts from skin punch biopsy and reprogramming using CytoTune iPS 2.

Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review.

Introduction: Combined oxidative phosphorylation (OXPHOS) deficiency 44 (COXPD44; MIM# 618855) is caused by biallelic pathogenic variants in FAS-activated serine-threonine kinase domain 2 (FASTKD2) (MIM# 612322). COXPD44 is characterized by variable clinical features-developmental delay, chronic epileptic encephalopathy, seizure disorder/status epilepticus and cerebellar ataxia. We ascertained one sib with episodic acute encephalomyopathy triggered by acute gastroenteritis and associated with haematological abnormalities, rhabdomyolysis leading to acute kidney injury, hypotensive shock leading to early death and a similarly affected sib with early death.

Adult-Onset Neuronal Ceroid Lipofuscinosis: Variant Presenting as Focal Dystonia.

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.

Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.

Biosynthesis and biological activities of magnesium hydroxide nanoparticles using Tinospora cordifolia leaf extract.

The synthesis of magnesium hydroxide nanoparticles (Mg(OH) NPs) using plant extracts are known to be a practical, economical, and an environmentally friendly approach. In this work, Mg(OH) NPs were synthesized using aqueous leaf extract of Tinospora cordifolia, a medicinal plant commonly found in India. The synthesized Mg(OH) NPs were characterized using various spectroscopic techniques.

Intelligent Process Monitoring of Smart Polymer Composites Using Large Area Graphene Coated Fabric Sensor.

The location of defect formed in the final composite is identified using sensor data. Herein, we report the development of an online process monitoring system for vacuum-assisted resin transfer molding (VARTM) process using large area graphene coated in-situ fabric sensor. Besides imparting excellent mechanical properties to the final composites, these sensors provide critical information during the composite processing including detecting defects and evaluating processing parameters.

Biomass and energy potential of Erianthus arundinaceus and Saccharum spontaneum-derived novel sugarcane hybrids in rainfed environments.

Background: Energy canes are viable feedstocks for biomass industries due to their high biomass production potential, lower susceptibility to insects and diseases, better ability to adapt to extreme conditions and clean bioenergy. Interspecific hybrids (ISH) and intergeneric hybrids (IGH) have great potential to meet the growing demand of biomass, biomass-derived energy and feedstock.

Results: In this study, two types of energy canes, Type I and Type II, derived from S.

Mitochondria in biology and medicine - 2023.

Mitochondria are an indispensable part of the cell that plays a crucial role in regulating various signaling pathways, energy metabolism, cell differentiation, proliferation, and cell death. Since mitochondria have their own genetic material, they differ from their nuclear counterparts, and dysregulation is responsible for a broad spectrum of diseases. Mitochondrial dysfunction is associated with several disorders, including neuro-muscular disorders, cancer, and premature aging, among others.

One-dimensional van der Waals BiSBr: an anisotropic thermoelectric mineral.

The fascinating characteristics of one-dimensional van der Waals crystals (V-VI-VII) enable their wide functionality. In particular, their anisotropic carrier transport and low thermal conductivity are advantageous from a thermoelectric viewpoint. In a quest for the "electron crystal phonon glass" paradigm, the present work investigated the thermoelectric performance of BiSBr.

Chitosan/PLA-loaded Magnesium oxide nanocomposite to attenuate oxidative stress, neuroinflammation and neurotoxicity in rat models of Alzheimer's disease.

Alzheimer's disease (AD) is a neurodegenerative disease characterized by amyloid-beta (Aβ) aggregation, neuroinflammation, oxidative stress, and dysfunction in the mitochondria and cholinergic system. In this study, the synthesis of chitosan-polylactic acid-loaded magnesium oxide nanocomposite (CH/PLA/MgONCs) was examined using the green precipitation method. The synthesized CH/PLA/MgONCs were confirmed by using the UV-Vis spectrum, FT-IR, SEM-EDAX, and physical properties.

Characterisation of Patients with Associated Neuropathy in an Indian Cohort.

Background: SH3TC2 variations lead to demyelinating recessive Charcot-Marie-Tooth (CMT) disease, which is commonly associated with early-onset scoliosis and cranial neuropathy. Data from Indian ethnicity is limited.

Objective: We aim to report the characteristics of patients with SH3TC2-associated neuropathy from an Indian cohort.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis.

Red Cell Distribution Width in Chronic Liver Disease: An Observational Study.

Background: Chronic liver diseases (CLDs) encompass a group of conditions that are marked by diminished liver function due to ongoing inflammation or damage. This study aimed to establish a relationship between the red cell distribution width (RDW) and two scoring systems, namely the Model for End-Stage Liver Disease (MELD) score and Child-Turcotte-Pugh (CTP) score, in individuals diagnosed with CLDs.

Methods:  The study was carried out at Aarupadai Veedu Medical College & Hospital, Pondicherry, India, following approval from the Institutional Ethical Committee in the Department of General Medicine and Gastroenterology.

Signatures of high altitude adaptation in Tibeto-Burman tribes of the Darjeeling Hill Region.

Objectives: The long-term isolation, endogamy practices, and environmental adaptations have shaped the enormous human diversity in India. The genetic and morphological variations in mainland Indians are well studied. However, the data on the Indian Himalayan populations are scattered.

A proteomic study to unveil lead toxicity-induced memory impairments invoked by synaptic dysregulation.

Unlabelled: Lead (Pb), a ubiquitously present heavy metal toxin, has various detrimental effects on memory and cognition. However, the molecular processes affected by Pb causing structural and functional anomalies are still unclear. To explore this, we employed behavioral and proteomic approaches using rat pups exposed to lead acetate through maternal lactation from postnatal day 0 (P0) until weaning.

Pressure-driven thermoelectric properties of defect chalcopyrite structured ZnGaTe: study.

The pressure induced structural, electronic, transport, and lattice dynamical properties of ZnGaTe were investigated with the combination of density functional theory, Boltzmann transport theory and a modified Debye-Callaway model. The structural transition from 4̄ to 4̄2 occurs at 12.09 GPa.

Expression of Ki-67, Cornulin and ISG15 in non-involved mucosal surgical margins as predictive markers for relapse in oral squamous cell carcinoma (OSCC).

Background: Local relapse of oral squamous cell carcinoma in non-involved mucosal surgical margins indicated possibility of field alteration in the margins, which could be predicted with certain biomarkers. The objectives were to evaluate the expression of Ki-67, Cornulin and ISG15 in non-involved mucosal surgical margins and the association of clinicopathological prognosticators with local relapse in oral squamous cell carcinoma.

Methods: Surgical margins from the study (relapse) group (n = 23), control (non-relapse) group (n = 32) and normal oral mucosa (n = 5) were immunohistochemically stained using Ki-67, Cornulin and ISG15 antibodies.

Leukodystrophy Due to Mutations in Adults.

Vanishing white matter disease (VWMD) due to mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically confirmed adult patients from India. We describe the phenotype of two adults with genetically confirmed VWMD and typical radiological findings.

Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform.

Objective: Neurocognitive disabilities in Duchenne muscular dystrophy (DMD) children beginning in early childhood and distal DMD gene deletions involving disruption of Dp140 isoform are more likely to manifest significant neurocognitive impairments. MRI data analysis techniques like brain-network metrics can provide information on microstructural integrity and underlying pathophysiology.

Methods: A prospective study on 95 participants [DMD = 57, and healthy controls (HC) = 38].

Serum fibroblast growth factor 21 and growth differentiation factor 15: Two sensitive biomarkers in the diagnosis of mitochondrial disorders.

Mitochondrial disorders are often difficult to diagnose because of diverse clinical phenotypes. FGF-21 and GDF-15 are metabolic hormones and promising biomarkers for the diagnosis of these disorders. This study has systematically evaluated serum FGF-21 and GDF-15 levels by ELISA in a well-defined cohort of patients with definite mitochondrial disorders (n = 30), neuromuscular disease controls (n = 36) and healthy controls (n = 36) and aimed to ascertain their utility in the diagnosis of mitochondrial disorders.

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.

Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The gene encodes the mitochondria-located complementary 1 Q subcomponent-binding protein, involved in mitochondrial homeostasis. Biallelic mutations in C1QBP cause mitochondrial cardiomyopathy and/or PEO with variable age of onset.