Leveraging the power of long reads for targeted sequencing.

Long-read sequencing technologies have improved the contiguity and, as a result, the quality of genome assemblies by generating reads long enough to span and resolve complex or repetitive regions of the genome. Several groups have shown the power of long reads in detecting thousands of genomic and epigenomic features that were previously missed by short-read sequencing approaches. While these studies demonstrate how long reads can help resolve repetitive and complex regions of the genome, they also highlight the throughput and coverage requirements needed to accurately resolve variant alleles across large populations using these platforms.

Extracellular matrix protein gelatin provides higher expansion, reduces size heterogeneity, and maintains cell stiffness in a long-term culture of mesenchymal stem cells.

Extracellular matrices (ECM) present in our tissues play a significant role in maintaining tissue homeostasis through various physical and chemical cues such as topology, stiffness, and secretion of biochemicals. They are known to influence the behavior of resident stem cells. It is also known that ECM type and coating density on cell culture plates strongly influence in vitro cellular behavior.

SLC5A3-Dependent Myo-inositol Auxotrophy in Acute Myeloid Leukemia.

An enhanced requirement for nutrients is a hallmark property of cancer cells. Here, we optimized an genetic screening strategy in acute myeloid leukemia (AML), which led to the identification of the myo-inositol transporter SLC5A3 as a dependency in this disease. We demonstrate that SLC5A3 is essential to support a myo-inositol auxotrophy in AML.

A Rare Case of a High-Grade Astroblastoma with 5-Year Follow-up.

Astroblastoma is a very rare glial tumor derived from astroblasts. It has been controversial in terms of its features and diagnosis. The objective of this report is to present the findings of the high-grade astroblastoma with a good prognosis in a 21-year-old female who presented to us with diplopia and headache.

Transcriptional Silencing of Confers a Dependency on Fanconi Anemia Proteins in Acute Myeloid Leukemia.

Hundreds of genes become aberrantly silenced in acute myeloid leukemia (AML), with most of these epigenetic changes being of unknown functional consequence. Here, we demonstrate how gene silencing can lead to an acquired dependency on the DNA repair machinery in AML. We make this observation by profiling the essentiality of the ubiquitination machinery in cancer cell lines using domain-focused CRISPR screening, which revealed Fanconi anemia (FA) proteins UBE2T and FANCL as unique dependencies in AML.

Prevalence of Eating Disorders and Its Associated Risk Factors in Students of a Medical College Hospital in South India.

Background and objectives Eating disorders are some of the most under-researched and difficult to diagnose psychiatric conditions, with a high mortality rate, especially among the adolescent age group. The aim of this study is to determine the prevalence and risk factors for eating disorders among students of a medical college hospital in South India. Materials and methods An observational, cross-sectional study was conducted among 332 students of four constituent colleges of a tertiary-care hospital selected by simple random sampling.

Rapunzel syndrome with cholangitis and pancreatitis - A rare case report.

Rapunzel syndrome, defined by the presence of a trichobezoar extending from the stomach to the small intestine, is a rare cause of intestinal obstruction. It usually presents with vague symptoms; however, it can also present with complications such as perforation, peritonitis and obstructive jaundice. We report a rare case of a 37-year-old woman with Rapunzel syndrome complicated by acute cholangitis and pancreatitis and analyse the diagnosis and management of this complicated pathology.

Iodine Promoted Efficient Synthesis of 2-Arylimidazo[1,2-]pyridines in Aqueous Media: A Comparative Study between Micellar Catalysis and an "On-Water" Platform.

In a new and environmentally sustainable approach, a series of 2-arylimidazo[1,2-]pyridine derivatives were synthesized in aqueous media in the presence of iodine as a catalyst. The reaction proceeded by condensation of various aryl methyl ketones with 2-aminopyridines to afford 2-arylimidazo[1,2-]pyridines in good overall yields. Although several of the reactions were efficiently performed "on water", the addition of a surfactant, namely, sodium dodecyl sulphate , was found effective in terms of substrate scope and yield enhancement.

Lithium response in bipolar disorder correlates with improved cell viability of patient derived cell lines.

Lithium is an effective, well-established treatment for bipolar disorder (BD). However, the mechanisms of its action, and reasons for variations in clinical response, are unclear. We used neural precursor cells (NPCs) and lymphoblastoid cell lines (LCLs), from BD patients characterized for clinical response to lithium (using the "Alda scale" and "NIMH Retrospective Life chart method"), to interrogate cellular phenotypes related to both disease and clinical lithium response.

Assessment of cardiac risk in chronic asymptomatic alcoholics using blood pressure and electrocardiogram, and the relation with duration of drinking.

Background The Global Status Report 2017 reveals that 11% of Indians indulge in binge drinking. Chronic alcohol intake may lead to cardiac problems and hypertension. The aim of this study was to evaluate cardiovascular risk among asymptomatic chronic alcoholics.

Toxicity and Antigenotoxic Effect of Hispolon Derivatives: Role of Structure in Modulating Cellular Redox State and Thioredoxin Reductase.

Hispolon (HS), a bioactive polyphenol, and its derivatives such as hispolon monomethyl ether (HME), hispolon pyrazole (HP), and hispolon monomethyl ether pyrazole (HMEP) were evaluated for comparative toxicity and antigenotoxic effects. The stability of HS derivatives in biological matrices followed the order HS < HP ≈ HME < HMEP. The cytotoxicity analysis of HS derivatives indicated that HP and HMEP were less toxic than HS and HME, respectively, in both normal and tumor cell types.

Developing two reference control samples for the Indian population.

Human induced Pluripotent Stem Cells (HiPSCs) have immense potential in research and therapeutics. Under the aegis of Department of Biotechnology funded national program entitled, "The Accelerator program for Discovery in Brain Disorders using Stem Cells (ADBS)" we have established a HiPSC biorepository (https://www.ncbs.

Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms. Progressive neurological abnormalities develop in a quarter of XP patients.

Aim: To study the clinical profile and perform a mutation analysis in Indian patients with xeroderma pigmentosum.

The transcription factor NRSF contributes to epileptogenesis by selective repression of a subset of target genes.

The mechanisms generating epileptic neuronal networks following insults such as severe seizures are unknown. We have previously shown that interfering with the function of the neuron-restrictive silencer factor (NRSF/REST), an important transcription factor that influences neuronal phenotype, attenuated development of this disorder. In this study, we found that epilepsy-provoking seizures increased the low NRSF levels in mature hippocampus several fold yet surprisingly, provoked repression of only a subset (∼10%) of potential NRSF target genes.