Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.

Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which capture fewer than half of the SVs present in any one individual. Long-read sequencing (LRS) enhances our ability to detect disease-associated and functionally relevant structural variants (SVs); however, its application in large-scale genomic studies has been limited by challenges in sample preparation and high costs.

Plasma Lipid Metabolites, Clinical Glycemic Predictors, and Incident Type 2 Diabetes.

Objective: Plasma metabolite profiling has uncovered several nonglycemic markers of incident type 2 diabetes (T2D). We investigated whether such biomarkers provide information about specific aspects of T2D etiology, such as impaired fasting glucose and impaired glucose tolerance, and whether their association with T2D risk varies by race.

Research Design And Methods: Untargeted plasma metabolite profiling was performed of participants in the FINRISK 2002 cohort (n = 7,564).

Safety and efficacy of CAR-T cell therapy in patients with autoimmune diseases: a systematic review.

Chimeric antigen receptor T-cell (CAR-T) therapy has revolutionized the treatment of various hematological malignancies. Recently, CAR-T has been used in refractory auto-immune diseases with initial encouraging results. In this systematic review, we examined the safety and efficacy of CAR-T in patients with refractory auto-immune diseases.

Incremental learning algorithm for dynamic evolution of domain specific vocabulary with its stability and plasticity analysis.

Domain-specific vocabulary, which is crucial in fields such as Information Retrieval and Natural Language Processing, requires continuous updates to remain effective. Incremental Learning, unlike conventional methods, updates existing knowledge without retraining from scratch. This paper presents an incremental learning algorithm for updating domain-specific vocabularies.

Engineering ultra-strong electron-phonon coupling and nonclassical electron transport in crystalline gold with nanoscale interfaces.

Electrical resistivity in good metals, particularly noble metals such as gold (Au), silver (Ag), or copper, increases linearly with temperature (T) for T > Θ, where Θ is the Debye temperature. This is because the coupling (λ) between the electrons and the lattice vibrations, or phonons, in these metals is weak, with λ ~ 0.1-0.

Factor structure, reliability and validity of an Indian Scale for Assessment of Nomophobia (ISAN) among college students: A multicentre Indian study.

Background: The current severity assessment measures for nomophobia have issues related to clinical applicability, which makes them difficult to be consistently applied in the Indian context. We aimed to develop a valid and reliable instrument for the assessment of severity of Nomophobia.

Methods: This study was a two-phase, exploratory sequential mixed method design conducted across three centres in India.

Identification of blast resistant finger millet (Eleusine coracana L.) genotype through phenotypic screening and molecular profiling.

Finger millet blast caused by Pyricularia grisea hinders crop's growth and is a serious threat to economic yield. It can lead to massive yield losses i.e.

Effect of Approach Based Lumbar Interbody Fusion on Sagittal Spinopelvic Parameters and Functional Outcomes: Comparison between Oblique Lumbar Interbody Fusion (OLIF) and Transforaminal Lumbar Interbody Fusion (TLIF).

Purpose: Transforaminal lumbar interbody fusion (TLIF) and oblique lumbar interbody fusion (OLIF) are the most commonly conducted operations for interbody fusions. In addition to fusion, the restoration of proper spinal alignment has become crucial for achieving favorable functional outcomes. There is a lack of agreement on which lumbar interbody fusion technique provides the most effective correction for sagittal spinopelvic parameters (SSPs).

Real-World Patient-Reported and Neurocognitive Outcomes in the Year After Axicabtagene Ciloleucel.

Axicabtagene ciloleucel (axi-cel), a chimeric antigen receptor T-cell therapy, has significantly improved clinical outcomes in adult patients with relapsed/refractory large B-cell lymphoma. However, few studies have examined patient-reported outcomes (PROs) or neurocognitive performance in patients treated with axi-cel. Moreover, no longitudinal PRO study has reported on patients treated with axi-cel as standard of care in the United States, to our knowledge.

Omics-based analysis of mitochondrial dysfunction and BBB integrity in post-COVID-19 sequelae.

The SARS-CoV-2 virus that resulted in the COVID-19 pandemic has been implicated in a range of neurological issues, such as encephalopathy, stroke, and cognitive decline. Although the precise mechanism causing these issues is unknown, mounting evidence shows that blood-brain barrier (BBB) disruption is probable2 a major factor. The integrity of the blood-brain barrier (BBB), a highly selective barrier that divides the brain from the systemic circulation, is crucial for preserving normal brain function.

Fuzzy modelling and cost optimization of fault-tolerant system with service interruption.

Redundancy and maintainability-supported fault-tolerant machining systems are used in many industries to achieve pre-specified reliability and system capability. In this investigation, a non-Markov model for the machining system has been developed by involving the concepts of server vacation, server breakdown, and reboot process. The server may fail and undergo primary repair which may be unsuccessful in recovering the server.

Using qualitative systems mapping to analyze the linkages between the behavioral and social (BeSD) determinants of routine childhood immunization in LMICs.

Background: Designing effective immunization programs requires a strong understanding of how the factors affecting vaccine uptake interplay. In this review, we analyze the relationships between the Behavioral and Social Drivers (BeSD) of routine immunization using qualitative systems mapping (QSM).

Methods: In this review, we analyzed 92 experimental and quasi-experimental impact evaluations (IEs) from 11 LMICs that were published between 2010 and 2020.

Predicting Surgical Site Infections in Spine Surgery: Association of Postoperative Lymphocyte Reduction.

Objective: Postoperative lymphopenia is reported as an excellent indicator to predict surgical-site infection (SSI) after spine surgery. However, there is still controversy concerning which serological markers can predict spinal SSI. This study aims to evaluate excellent and early indicators for detecting SSI, focusing on spine instrumented surgery.

Small-cohort GWAS discovery with AI over massive functional genomics knowledge graph.

Genome-wide association studies (GWASs) have identified tens of thousands of disease associated variants and provided critical insights into developing effective treatments. However, limited sample sizes have hindered the discovery of variants for uncommon and rare diseases. Here, we introduce KGWAS, a novel geometric deep learning method that leverages a massive functional knowledge graph across variants and genes to improve detection power in small-cohort GWASs significantly.

Real-Time Pain Control Education After Outpatient General Surgery: A Randomized Controlled Trial.

Introduction: Opioid-related morbidity and mortality continue to rise with surgery often serving as the first exposure to opioids for patients. Few interventions focus on real-time education in the outpatient setting while patients are experiencing pain. The effect of short-messaging service (SMS) surveys with real-time opioid-use education (SMSE) and without (SMS) on outpatient postoperative opioid use was studied.

Radiomic features of PET/CT imaging of large B cell lymphoma lesions predicts CAR T cell therapy efficacy.

Background: Relapsed and refractory Diffuse large B cell lymphoma (DLBCL) can be successfully treated with axicabtagene ciloleucel (axi-cel), a CD19-directed autologous chimeric antigen receptor T cell (CAR-T) therapy. Diagnostic image-based features could help identify the patients who would clinically respond to this advanced immunotherapy.

Purpose: The aim of this study was to establish a radiomic image feature-based signature derived from positron emission tomography/computed tomography (PET/CT), including metabolic tumor burden, which can predict a durable response to CAR-T therapy in refractory/relapsed DLBCL.

Successful surgical management of uveitic glaucoma in a sarcoidosis patient with cutaneous manifestations.

Sarcoidosis is a systemic granulomatous disease with variable ocular involvement. The most common ocular manifestation is uveitis, which can have potentially sight threatening complications such as glaucoma. We present the case of a man in his 30s with sarcoidosis and recurrent anterior uveitis, necessitating surgical intervention to control intraocular pressure and prevent further glaucomatous optic neuropathy progression.

Evaluation of Fluoride and Silver Ion Concentrations in e-Silver Diamine Fluoride and Advantage Arrest: An Ion Chromatography and Atomic Absorption Spectrometer Study.

Aims And Background: Dentin hypersensitivity (DH) is characterized by sharp shooting pain due to exposed dentin, and the most common method for treating this pain is the occlusion of the dentinal tubules with the help of desensitizing agents. E-silver diamine fluoride (e-SDF) (Kids-e-Dental, Mumbai, India) is a commercially available 38% SDF solution in the Indian market. Despite the fact that its application for caries prevention has been proven, the fluoride (Fl) and silver (Ag) ion concentrations of e-SDF for use in treating DH have yet to be standardized.

Clinical, Biochemical, and Histological Manifestations and Long-Term Outcomes of Renal Sarcoidosis - A Single Center Study.

Background: Renal involvement in sarcoidosis is rare. We evaluated the pattern of renal involvement in sarcoidosis, its clinical course, renal histology, and response to treatment.

Materials And Methods: We retrospectively analyzed the data of all cases with sarcoidosis exhibiting renal involvement referred to our department between January 2010 and December 2021.

Genome-wide association study reveals shared and distinct genetic architecture of fatty acids and oxylipins in the Hispanic Community Health Study/Study of Latinos.

Bioactive fatty acid-derived oxylipin molecules play key roles mediating inflammation and oxidative stress. Circulating levels of fatty acids and oxylipins are influenced by environmental and genetic factors; characterizing the genetic architecture of bioactive lipids could yield new insights into underlying biology. We performed a genome-wide association study (GWAS) of 81 fatty acids and oxylipins in 11,584 Hispanic Community Health Study/Study of Latinos (HCHS/SOL) participants with genetic and lipidomic data measured at study baseline (58.

Searching for Asymmetric and Heavily Precessing Binary Black Holes in the Gravitational Wave Data from the LIGO Third Observing Run.

Leveraging the features of the GstLAL pipeline, we present the results of a matched filtering search for asymmetric binary black hole systems with heavily misaligned spins in LIGO and Virgo data taken during the third observing run. Our target systems show strong imprints of precession whereas current searches have nonoptimal sensitivity in detecting them. After measuring the sensitivity improvement brought by our search over standard spin-aligned searches, we report the detection of 30 gravitational wave events already discovered in the latest version of the Gravitational Wave Transient Catalog.

Effects of intermittent fasting on body composition, clinical health markers and memory status in the adult population: a single-blind randomised controlled trial.

Introduction: Despite the popularity and potential protective effects of intermittent fasting (IF) against metabolic disorders, more human trials must be conducted to highlight its effects on human health. Therefore, the present trial aimed to investigate the effect of IF on the body composition, health markers, and memory status of obese and overweight adults.

Methods: A parallel randomised controlled trial was conducted in Lahore, Pakistan, with 30 participants recruited from each of the three arms (regular diet, customised diet, and IF group) with a follow-up period of 12 weeks.

Mutagenic impact and evolutionary influence of radiotherapy in hematologic malignancies.

Ionizing radiotherapy (RT) is a widely used palliative and curative treatment strategy for malignancies. In solid tumors, RT-induced double strand breaks lead to the accumulation of indels, and their repair by non-homologous end-joining has been linked to the ID8 mutational signature in resistant cells. However, the extent of RT-induced DNA damage in hematologic malignancies and its impact on their evolution and interplay with commonly used chemotherapies has not yet been explored.