Genetic variant interpretation for the neurologist - A pragmatic approach in the next-generation sequencing era in childhood epilepsy.

Genetic advances over the past decade have enhanced our understanding of the genetic landscape of childhood epilepsy. However a major challenge for clinicians ha been understanding the rationale and systematic approach towards interpretation of the clinical significance of variant(s) detected in their patients. As the clinical paradigm evolves from gene panels to whole exome or whole genome testing including rapid genome sequencing, the number of patients tested and variants identified per patient will only increase.

Soluble ST2 Predicts Poor Functional Outcome in Acute Ischemic Stroke Patients.

Introduction: There are very limited data on the role of biomarkers correlating with the outcome in acute ischemic stroke (AIS). We evaluated the predictive values of the plasma concentrations of soluble serum stimulation-2 (sST2), matrix metalloproteinase-9 (MMP-9), and claudin-5 in AIS.

Methods: The biomarker levels in the plasma samples of consecutive AIS patients collected at baseline, 12 h, and 24 h from stroke onset were quantified using immunoassays.

Biomarkers predict hemorrhagic transformation and stroke severity after acute ischemic stroke.

Objectives: Hemorrhagic transformation (HT) is a complication occurring in patients with acute ischemic stroke (AIS) either spontaneously or post-thrombolysis leading to significant morbidity and mortality. We assessed circulating matrix metalloproteinase-9 (MMP-9), Claudin-5, and soluble serum stimulation-2 (sST2) in HT and stroke severity in AIS based on their temporal distribution.

Materials And Methods: We prospectively enrolled 111 AIS patients within 12 h from onset.

SrBPO: Ce, Dy - A cold white-light emitting phosphor.

A single-component white-light emitting phosphor SrBPO: Ce, Dy with high color purity, good quantum efficiency and high thermal stability was prepared through the conventional high temperature solid state reaction. PXRD studies confirmed its phase purity. The suitability of Strontium borophosphate as a host for phosphor was confirmed through DFT calculations.

Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research.

Over the past two decades, our understanding of Parkinson's disease (PD) has been gleaned from the discoveries made in familial and/or sporadic forms of PD in the Caucasian population. The transferability and the clinical utility of genetic discoveries to other ethnically diverse populations are unknown. The Indian population has been under-represented in PD research.

To be Wild or Mutant: Role of Isocitrate Dehydrogenase 1 (IDH1) and 2-Hydroxy Glutarate (2-HG) in Gliomagenesis and Treatment Outcome in Glioma.

Molecular and clinical research based on isocitrate dehydrogenase (IDH) mutations is much sought after in glioma research since a decade of its discovery in 2008. IDH enzyme normally catalyzes isocitrate to α-keto-glutarate (α-KG), but once the gene is mutated it produces an 'oncometabolite', 2-hydroxyglutarate (2-HG). 2-HG is proposed to inhibit α-KG-dependent dioxygenases and also blocks cellular differentiation.

Probing the optical properties and luminescence mechanism of a UV-emitting SrBPO :Ce phosphor.

Ce-doped (1 × 10 to 3.0 mol%) SrBPO phosphors were synthesized using a conventional solid-state reaction route at 1273 K in an air atmosphere. Phase and morphology of the samples were studied from powder X-ray diffraction (XRD) patterns and scanning electron microscope (SEM) micrographs, respectively.

Radiation-induced defects in manganese-doped lithium tetraborate phosphor.

Lithium tetraborate doped with manganese synthesised by solid-state sintering technique exhibits a dosimetric peak at 280°C. The high-temperature glow curve results in no fading for three months. The sensitivity of Li2B4O7:Mn is determined to be 0.

An extensive investigation on nucleation, growth parameters, crystalline perfection, spectroscopy, thermal, optical, microhardness, dielectric and SHG studies on potential NLO crystal - ammonium Hydrogen L-tartarte.

Ammonium Hydrogen L-tartarte (AMT), an organic nonlinear optical crystal was grown by slow evaporation method at ambient temperature. Solubility, metastable zone width and induction period of Ammonium Hydrogen L-tartarte in aqueous solution were determined. Good quality crystals were selected and characterized by Single crystal XRD, HR-XRD, FT-IR, (1)H NMR, Mass, TGA-DTA, SEM, EDAX, optical and NLO studies.

Synthesis and characterisation of BaSo4:Eu thermoluminescence phosphor.

Polycrystalline powder samples of BaSO(4) doped with Eu(2+) were prepared by solid-state reaction in different reducing atmospheres. Photoluminescence (PL), thermoluminescence (TL), TL kinetic and dosimetric studies have been carried out in this phosphor. The TL glow curve of BaSO(4):Eu(2+) showed only a single peak at 513 K unlike other phosphors and the TL intensity is about three to four times higher than that of CaSO(4):Dy, which is currently used as the radiation dosemeter for personnel monitoring in India.

Diversity of DNA methyltransferases that recognize asymmetric target sequences.

DNA methyltransferases (MTases) are a group of enzymes that catalyze the methyl group transfer from S-adenosyl-L-methionine in a sequence-specific manner. Orthodox Type II DNA MTases usually recognize palindromic DNA sequences and add a methyl group to the target base (either adenine or cytosine) on both strands. However, there are a number of MTases that recognize asymmetric target sequences and differ in their subunit organization.

A mutation in the Mod subunit of EcoP15I restriction enzyme converts the DNA methyltransferase to a site-specific endonuclease.

A closer inspection of the amino acid sequence of EcoP15I DNA methyltransferase revealed a region of similarity to the PDXn(D/E)XK catalytic site of type II restriction endonucleases, except for methionine in EcoP15I DNA methyltransferase instead of proline. Substitution of methionine at position 357 by proline converts EcoP15I DNA methyltransferase to a site-specific endonuclease. EcoP15I-M357P DNA methyltransferase specifically binds to the recognition sequence 5'-CAGCAG-3' and cleaves DNA asymmetrically EcoP151-M357P.

Measurement of plasma hydroperoxide concentration by FOX-1 assay in conjunction with triphenylphosphine.

Introduction: Hydroperoxides are well-recognized reactive oxygen species which are associated with oxidative stress, a phenomenon of current clinical interest as oxidative stress is associated with a number of disease condition. Ferrous ion oxidation xylenol orange (FOX) methods of hydroperoxide estimation has outdated other methods available for hydroperoxide estimation. Two versions FOX assays are described in the literature, FOX-1 and FOX-2, in which FOX-1 is more sensitive.

Urinary hydrogen peroxide: a probable marker of oxidative stress in malignancy.

Background: Urinary hydrogen peroxide was postulated to be a biomarker of oxidative stress. We estimated urinary hydrogen peroxide along with other established parameters of oxidative stress in malignancies where oxidative stress is well documented.

Methods: The oxidative stress markers tested were concentrations of erythrocyte glutathione, erythrocyte malonaldehyde (MDA) and plasma hydroperoxide, and activities of plasma glutathione-S-transferase (GST) and erythrocyte catalase.