Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.

Proteomic characterization and comparison of the infective and adult life stage secretomes from Necator americanus and Ancylostoma ceylanicum.

More than 470 million people globally are infected with the hookworms Ancylostoma ceylanicum and Necator americanus, resulting in an annual loss of 2.1 to 4 million disability-adjusted-life-years. Current infection management approaches are limited by modest drug efficacy, the costs associated with frequent mass drug administration campaigns, and the risk of reinfection and burgeoning drug resistance.

Recommendations for mitochondria transfer and transplantation nomenclature and characterization.

Intercellular mitochondria transfer is an evolutionarily conserved process in which one cell delivers some of their mitochondria to another cell in the absence of cell division. This process has diverse functions depending on the cell types involved and physiological or disease context. Although mitochondria transfer was first shown to provide metabolic support to acceptor cells, recent studies have revealed diverse functions of mitochondria transfer, including, but not limited to, the maintenance of mitochondria quality of the donor cell and the regulation of tissue homeostasis and remodelling.

General Kernel Machine Methods for Multi-Omics Integration and Genome-Wide Association Testing With Related Individuals.

Integrating multi-omics data may help researchers understand the genetic underpinnings of complex traits and diseases. However, the best ways to integrate multi-omics data and use them to address pressing scientific questions remain a challenge. One important and topical problem is how to assess the aggregate effect of multiple genomic data types (e.

The aortic-vertebral distance is more associated with axial plane deformities than coronal and sagittal deformities in idiopathic scoliosis patients of Lenke types I and II.

Purpose: Although idiopathic scoliosis is a common three-dimensional deformity, there is a lack of studies evaluating the associations between the aortic-vertebral distance (AVD) and spinal deformities in all planes. The study therefore aimed to evaluate how the coronal and sagittal curvature, vertebral rotation and aortic-vertebral angle (AVA) affect the AVD in idiopathic scoliosis.

Methods: The AVD, AVA, vertebral rotation and curve angles were measured on preoperative magnetic resonance imaging and radiographs in 46 patients who underwent posterior spinal fusion with pedicle screw instrumentation for idiopathic scoliosis Lenke types 1 and 2.

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.

Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole-genome sequencing (WGS) of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program.

Circulating tumor cell plasticity determines breast cancer therapy resistance via neuregulin 1-HER3 signaling.

Circulating tumor cells (CTCs) drive metastasis, the leading cause of death in individuals with breast cancer. Due to their low abundance in the circulation, robust CTC expansion protocols are urgently needed to effectively study disease progression and therapy responses. Here we present the establishment of long-term CTC-derived organoids from female individuals with metastatic breast cancer.

Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).

Coronary CTA and CT-FFR in trans-catheter aortic valve implantation candidates: a systematic review and meta-analysis.

Objectives: Screening for obstructive coronary artery disease (CAD) with coronary computed tomography angiography (CCTA) could prevent unnecessary invasive coronary angiography (ICA) procedures during work-up for trans-catheter aortic valve implantation (TAVI). CT-derived fractional flow reserve (CT-FFR) improves CCTA accuracy in chest pain patients. However, its reliability in the TAVI population is unknown.

P46Shc Inhibits Mitochondrial ACAA2 Thiolase, Exacerbating Mitochondrial Injury and Inflammation in Aging Livers.

Mitochondrial maladaptation and dysfunction contribute to the progression of metabolic dysfunction-associated steatohepatitis (MASH). The authors recently implicated the induction of Shc in progressive MASH during aging and the cytoplasmic p52Shc isoform in the activation of redox enzyme NOX2. The mitochondrial Shc isoform p46Shc was shown to repress acetyl-coenzyme A acyltransferase 2 (ACAA2) in vitro.

Effects of a preweaning socialization system on piglet livability, lifetime growth performance, and subsequent sow performance.

A total of 3,307 (PIC L 42) sows and 55,160 piglets were used to determine the effects of different farrowing systems on piglet livability and lifetime growth performance. Treatments were assigned to farrowing rooms and consisted of a conventional farrowing system (sows and piglets housed in individual farrowing stalls) or a preweaning socialization system (stall dividers removed between farrowing stalls and walkways within 6 to 24 h post-farrowing such that 12 to 32 litters of piglets were co-mingled). A total of 40 farrowing rooms with 80 stalls each were used with 20 rooms per treatment.

Influence of added 1,25(OH)D-glycoside on nursery pig growth performance, bone measurements, and cytokine concentrations.

A total of 2,268 crossbred pigs (L337 × 1050, PIC; initially 5.5 ± 0.18 kg) were used in a 42-d growth study to evaluate the effects of 1,25(OH)D-glycoside provided from a plant extract on growth performance, bone characteristics, and serum criteria of nursery pigs.

Left of sternum compressions are associated with higher systolic blood pressure than lower half of sternum compressions in cardiac arrest.

Introduction: Limited evidence supports guidelines to perform chest compressions at the lower half of the sternum. Imaging studies suggest this location may obstruct blood flow. Our primary aim was to compare the highest arterial line systolic blood pressure (SBP) during lower-half-of-sternum chest compressions (CC) versus those left-of-sternum, where the left ventricle is more likely located.

A new sample preparation approach based on microwave-induced combustion in disposable vessels for Ni and V determination by ICP-MS in crude oil.

The presence of Ni and V in crude oil is associated with pollutant emissions, corrosive processes and low-quality products. Nevertheless, the knowledge of the concentration of these elements, helps to predict geochemical characteristics and to bring information about the crude oil source. Moreover, Ni and V can cause problems during the crude oil refining process.

Quality of lumbar paraspinal muscles in patients with chronic low back pain and its relationship to pain duration, pain intensity, and quality of life.

Objectives: To examine the relationship between the quality of paraspinal muscles and pain intensity, duration, and quality of life in patients with chronic low back pain (cLBP).

Methods: Between January 2022 and December 2023, 119 individuals with no-back pain (no-BP) and 136 cLBP patients were enrolled. Both groups underwent health surveys and magnetic resonance imaging.

Impact of a Prototype 29:1 Ratio Grid on Image Quality and Radiation Dose in Abdominal Angiography: Evaluation in a Pig Model.

Objectives: The aim of this study was to evaluate the impact of a prototype grid with a 29:1 ratio (r29) and a 15:1 (r15) grid on the image quality (IQ) and radiation dose in abdominal angiography.

Materials And Methods: Six typical abdominal angiographic image scenarios were created in 4 pigs. Polymethylmethacrylate and aluminum plates were used to add 10 cm of patient equivalent thickness to simulate different body types.

Association of the Brain White Matter Hyperintensity with the Cognitive Performance in Middle-Aged Population.

Introduction: White matter hyperintensity (WMH) is typically classified into periventricular and deep WMH (PVWMH and DWMH) based on its proximity to the ventricles. While WMH volume has been associated with the cognitive performance and decline in patients with cerebral small vessel disease, the relative contributions of PVWMH and DWMH to the cognitive profile of these patients remain unclear. Therefore, we aimed to determine the differences in association of PVWMH and DWMH with a battery of cognitive tests in a group of middle-aged population at risk for cardiovascular disease.

Systemic inflammation and lymphocyte activation precede rheumatoid arthritis.

Some autoimmune diseases, including rheumatoid arthritis (RA), are preceded by a critical subclinical phase of disease activity. Proactive clinical management is hampered by a lack of biological understanding of this subclinical 'at-risk' state and the changes underlying disease development. In a cross-sectional and longitudinal multi-omics study of peripheral immunity in the autoantibody-positive at-risk for RA period, we identified systemic inflammation, proinflammatory-skewed B cells, expanded Tfh17-like cells, epigenetic bias in naive T cells, TNF+IL1B+ monocytes resembling a synovial macrophage population, and CD4 T cell transcriptional features resembling those suppressed by abatacept (CTLA4-Ig) in RA patients.

Obstetric Life Support Education for Maternal Cardiac Arrest: A Randomized Clinical Trial.

Importance: Management of maternal cardiac arrest (MCA) requires understanding the unique physiology of pregnancy and modifications to life support. Health care professionals have historically demonstrated inadequate knowledge and skills necessary to treat MCA.

Objective: To evaluate the effect of Obstetric Life Support (OBLS) education on health care professionals' cognitive performance, skills, and self-efficacy in managing MCA.

LeAf Trauma- an intersectoral prospective multicenter study assessing quality of life and return to work after majortrauma-study protocol.

With increasing survival rates, the functional outcome and quality of life of trauma patients are gaining more importance. Survivors suffer from chronic pain, psychosomatic disorders, and unemployment as well as increased post-traumatic morbidity, which can lead to an impaired quality of life. So far, the TraumaRegister DGU® records patient data during in-hospital treatment.

The contribution of beneficial wheat seed fungal communities beyond disease-causing fungi: Advancing heritable mycobiome-based plant breeding.

Wheat (Triticum sp.) is a staple cereal crop, providing nearly a fifth of the world's protein and available calories. While fungi associated with wheat plants have been known for centuries, attention to fungi associated with wheat seeds has increased over the last hundred years.

Real-world use of multiplex point-of-care molecular testing or laboratory-based molecular testing for influenza-like illness in a 2021 to 2022 US outpatient sample.

While molecular testing is recommended for symptomatic patients suspected of having coronavirus disease 2019 (COVID-19), limited data are available examining real-world use of tests for severe acute respiratory syndrome coronavirus (SARS-CoV-2) and the impact of SARS-CoV-2 testing on patient outcomes. In this retrospective cohort study using de-identified administrative claims data in the Optum Labs Data Warehouse, we identified 2 groups of patients with ≥1 outpatient claims with a procedure code for SARS-CoV-2 testing between January 2021 and September 2022. Group 1 had ≥1 claims with CPT code 0240U or 0241U ("Xpert Xpress") (N = 51,602); Group 2 had ≥1 claims for laboratory-based molecular testing (N = 317,192).

Posttraumatic growth in young adults with parents diagnosed with cancer: Application of the self-regulation model.

Background: The rising incidence of cancer has led to an increased number of adult children impacted by parental cancer. Previous research primarily focused on younger individuals, leaving a gap in understanding the experiences of adult children aged 20-35.

Objectives: To examine a model that integrates the interrelationships among the disease's characteristics (i.