Explore the vast range of titles available.

Introduction Tobacco consumption is a significant public health threat worldwide and a looming pandemic. World Health Organization data display that about five million people face premature death per year worldwide due to tobacco use. India is a leading nation among tobacco users in this regard. The aim of the present study was to determine the most prevalent tobacco consumption habit and the oral potentially malignant disorders (OPMDs) found in such users with an assessment of awareness and change in various habits. Material and methods A cross-sectional study over a duration of six months was carried out, in which every patient visiting the hospital OPD was assessed and evaluated for tobacco-related habits. A detailed history of the duration and frequency of the habit, the type of tobacco product consumed, and the predominant reason for its consumption among males and females were recorded and evaluated. An oral examination was performed to determine the evidence of OPMDs. Subjects under the age of 13 years and with systemic/metabolic disorders with oral manifestations were excluded from the study. Data obtained were subjected to statistical analysis using Stata Statistical Software, version 13.1 for Windows (released 2013 StataCorp LLC, College Station, TX). Results Data revealed a higher prevalence of tobacco consumption in males, with chewing tobacco followed by smoking and a mixed form of habit being predominant. Misri chewing was most common in females. Subjects in the 20-50 years age group were most commonly affected, with tobacco pouch keratosis being the most prevalent lesion followed by leukoplakia, with stress being a major causative factor for tobacco consumption. Conclusion The present study promulgated the prevalence of OPMDs in consumers of various kinds of tobacco products, which is highly valuable in the early detection of OPMDs. OPMDs remain unnoticed until advanced stages due to their asymptomatic or mildly symptomatic nature and due to a relative lack of awareness about the deleterious effects of tobacco usage despite an upsurge in tobacco cessation-related content on digital media. Thus, healthcare sector professionals can be appropriately guided to ensure efficient patient care at an early stage.

The hypothesis that a relationship exists between body mass index (BMI), functional class, and 6 min walk distance (6MWD) in Group 1‐pulmonary arterial hypertension (PAH) was examined. Analysis of data from the UK National Cohort Study for heritable pulmonary arterial/idiopathic PAH suggests increased BMI is a predictor of worse functional class and shorter 6MWD; increased body‐weight in mice and man may be associated with increased estrogen metabolism.

Supercapacitors are highly efficient energy storage devices that are known for their stability, ability to charge and discharge rapidly, extended cycle life, and impressive power density. However, their low energy density makes them unsuitable for energy-demanding applications like electric vehicles, requiring larger packs. This challenge has led to ongoing research focused on creating lightweight and cost-effective supercapacitors that can deliver optimal performance. This study aimed to develop a polyindole/gadolinium-gallium-aluminum garnet (PIn/GGAG) nano-composite tailored specifically for supercapacitor applications. The two-step synthesis process involved the sol-gel method to produce GGAG nano-powder, followed by creating the PIn/GGAG binary composite through a straightforward oxidative polymerization reaction. Scanning electron microscopy (SEM) was used to analyze the morphology of the composite, which was found to be within the 230–560 nm range. Characterization techniques, including XRD, FTIR, Raman, and FE-SEM, confirmed the presence of the GGAG phase. Cyclic voltammetry (CV), galvanostatic charge-discharge (GCD), and impedance spectroscopy (EIS) were employed to scrutinize the supercapacitive performance in a three-electrode configuration. CV confirmed the contribution of the pseudo-capacitance mechanism at the interface of the PIn/GGAG nano-composite-coated carbon fiber (CF) and H 2 SO 4 electrolyte. The calculated specific capacitance (SC) using the CV technique was 105 F/g at a scan rate of 5 mV/s. The PIn/GGAG nano-composite-coated CF electrode demonstrated a charging potential increase of up to 1.8 V within 100s, coupled with a discharge time of approximately 90s. These findings suggest that the PIn/GGAG nano-composite has significant potential as a novel, high-performance lightweight supercapacitor electrode, potentially enhancing the longevity and charging efficiency in the hybrid energy systems of electric vehicles.

Idiopathic pulmonary arterial hypertension (IPAH) is a rare but fatal disease diagnosed by right heart catheterisation and the exclusion of other forms of pulmonary arterial hypertension, producing a heterogeneous population with varied treatment response. Here we show unsupervised machine learning identification of three major patient subgroups that account for 92% of the cohort, each with unique whole blood transcriptomic and clinical feature signatures. These subgroups are associated with poor, moderate, and good prognosis. The poor prognosis subgroup is associated with upregulation of the ALAS2 and downregulation of several immunoglobulin genes, while the good prognosis subgroup is defined by upregulation of the bone morphogenetic protein signalling regulator NOG , and the C/C variant of HLA-DPA1/DPB1 (independently associated with survival). These findings independently validated provide evidence for the existence of 3 major subgroups (endophenotypes) within the IPAH classification, could improve risk stratification and provide molecular insights into the pathogenesis of IPAH. Idiopathic pulmonary arterial hypertension is a rare and fatal disease with a heterogeneous treatment response. Here the authors show that unsupervised machine learning of whole blood transcriptomes from 359 patients with idiopathic pulmonary arterial hypertension identifies 3 subgroups (endophenotypes) that improve risk stratification and provide new molecular insights.

SORCS2 is one of five proteins that constitute the Vps10p-domain receptor family. Members of this family play important roles in cellular processes linked to neuronal survival, differentiation and function. Genetic and functional studies implicate SORCS2 in cognitive function, as well as in neurodegenerative and psychiatric disorders. DNA damage and DNA repair deficits are linked to ageing and neurodegeneration, and transient neuronal DNA double-strand breaks (DSBs) also occur as a result of neuronal activity. Here, we report a novel role for SORCS2 in DSB formation. We show that SorCS2 loss is associated with elevated DSB levels in the mouse dentate gyrus and that knocking out SORCS2 in a human neuronal cell line increased Topoisomerase IIβ-dependent DSB formation and reduced neuronal viability. Neuronal stimulation had no impact on levels of DNA breaks in vitro, suggesting that the observed differences may not be the result of aberrant neuronal activity in these cells. Our findings are consistent with studies linking the VPS10 receptors and DNA damage to neurodegenerative conditions.

Although the invention of right heart catheterisation in the 1950s enabled accurate clinical diagnosis of pulmonary arterial hypertension (PAH), it was not until 2000 when the landmark discovery of the causative role of bone morphogenetic protein receptor type II (BMPR2) mutations shed new light on the pathogenesis of PAH. Since then several genes have been discovered, which now account for around 25% of cases with the clinical diagnosis of idiopathic PAH. Despite the ongoing efforts, in the majority of patients the cause of the disease remains elusive, a phenomenon often referred to as “missing heritability”. In this review, we discuss research approaches to uncover the genetic architecture of PAH starting with forward phenotyping, which in a research setting should focus on stable intermediate phenotypes, forward and reverse genetics, and finally reverse phenotyping. We then discuss potential sources of “missing heritability” and how functional genomics and multi-omics methods are employed to tackle this problem.

Abstract Background Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). Mutations in bone morphogenetic protein receptor 2 ( BMPR2 ) are the cause of most heritable cases but the vast majority of other cases are genetically undefined. Methods To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource – Rare Diseases Study. The strength of this combined cohort is a doubling of the number of IPAH cases compared to either national cohort alone. We identified protein-coding variants and performed rare variant association analyses in unrelated participants of European ancestry, including 1647 IPAH cases and 18,819 controls. We also analyzed de novo variants in 124 pediatric trios enriched for IPAH and APAH-CHD. Results Seven genes with rare deleterious variants were associated with IPAH with false discovery rate smaller than 0.1: three known genes ( BMPR2 , GDF2 , and TBX4 ), two recently identified candidate genes ( SOX17 , KDR ), and two new candidate genes (fibulin 2, FBLN2 ; platelet-derived growth factor D, PDGFD ). The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. For pediatric PAH, predicted deleterious de novo variants exhibited a significant burden compared to the background mutation rate (2.45×, p = 2.5e−5). At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. Conclusions Rare variant analysis of a large international consortium identified two new candidate genes— FBLN2 and PDGFD . The new genes have known functions in vasculogenesis and remodeling. Trio analysis predicted that ~ 15% of pediatric IPAH may be explained by de novo variants.

Oral cancer is one of the most common deadliest cancers leading to disfigurement. Despite recent advancement in the treatment modalities, it has less improvement in the prognosis. Early detection plays vital role survival rate of the patients. There is no accurate, cost-effective and reliable method for screening of oral squamous cell carcinoma (OSCC) patients. Hence, many patients are diagnosed at advanced stages. Early detection would, therefore, help to identify patients and modify treatment with close monitoring. There is a need for mass screening with a rapid and reliable oral cancer diagnostic test that can be widely used in a clinical setting. Recent diagnostic techniques for OSCC require modern laboratory facilities, sophisticated equipment with elaborative and lengthy processing techniques by skilled personnel. Lab-on-a-chip (LOC) or micro-total-analysis systems, one of the microfluidics technology that is defined as adaptation, miniaturization, integration, and automation of analytical laboratory procedures into a single device or \"chip.\" This technology assures the replacement of complicated techniques with miniaturized, integrated, programmed and economical diagnostic devices. The detection of oral dysplastic and cancer cells utilizing chip is based on membrane-associated cell proteins. There is unique gene transcription profiles singularly expressed on the cell membranes for its detection. Hence, this system provides a means for rapid, automated, molecular analysis of cancer cells. This review articles emphasis on LOC technology for identification of biomarkers of oral cancer.

For almost 50 years, the Icahn School of Medicine at Mount Sinai has continually invested in genetics and genomics, facilitating a healthy ecosystem that provides widespread support for the ongoing programs in translational pharmacogenomics. These programs can be broadly cataloged into discovery, education, clinical implementation and testing, which are collaboratively accomplished by multiple departments, institutes, laboratories, companies and colleagues. Focus areas have included drug response association studies and allele discovery, multiethnic pharmacogenomics, personalized genotyping and survey-based education programs, pre-emptive clinical testing implementation and novel assay development. This overview summarizes the current state of translational pharmacogenomics at Mount Sinai, including a future outlook on the forthcoming expansions in overall support, research and clinical programs, genomic technology infrastructure and the participating faculty.