5,625,305 results match your criteria: "USA; University of Louisville Department of Neurosurgery[Affiliation]"

Objective: This large cohort study aimed to examine the overall associations of physical activity (PA) and estimated cardiorespiratory fitness (eCRF) with incident chronic kidney disease (CKD).

Methods: This study included a total of 274,292 participants (mean age, 37.9±8.

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The impact of various neurodegenerative diseases on the retina has been investigated in recent years using optical coherence tomography (OCT). Epilepsy, classified as a neurodegenerative disorder, has been indicated to affect the structural integrity of the retina. Moreover, there is ongoing debate regarding the relative contribution of disease pathogenesis and the consumption of anti-epileptic drugs (AEDs) to these retinal changes.

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Objectives: Evaluation of diagnostic accuracy of two point-of-care (POC) molecular diagnostic tests for the detection of monkeypox virus (MPXV): Xpert® Mpox (Cepheid, Inc., USA) and STANDARD™ M10 MPX/OPX (SD Biosensor, Inc., Korea).

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Neural Rewiring of Resilience: The Effects of Combat Deployment on Functional Network Architecture.

Biol Psychiatry Cogn Neurosci Neuroimaging

January 2025

School of Psychological Sciences, Sagol School of Neuroscience, Tel-Aviv University.

Background: Although combat-deployed soldiers are at a high risk for developing trauma-related psychopathology, most will remain resilient for the duration and aftermath of their deployment tour. The neural basis of this type of resilience is largely unknown, and few longitudinal studies exist on neural adaptation to combat in resilient individuals for whom a pre-exposure measurement was collected. Here, we delineate changes in the architecture of functional brain networks from pre- to post-combat in psychopathology-free, resilient participants.

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The concentration, character, and distribution of microplastics in coastal marine environments remain poorly understood, with most research focusing on the abundance of microplastics at the sea surface. To address this gap, we conducted one of the first comprehensive assessments of microplastic distribution through the marine water column and in the benthic sediment during the wet and dry season in the coastal waters of the San Pedro Shelf, Southern California, USA. Microplastic concentrations in the water column did not vary significantly across season but were significantly higher in nearshore environments and at the surface of the water column.

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A panel of 21 international experts are formed by the Asia-Pacific Vitreo-retina Society to work out the consensus and guidelines on polypoidal choroidal vasculopathy (PCV). PCV is a common subtype of neovascular age-related macular degeneration and is more prevalent in Asian populations. Recent advancement in imaging technology allows greater understanding of the disease process of PCV.

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Translating Time: Challenges, Progress, and Future Directions.

Brain Res Bull

January 2025

Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, 36849, USA.

Mice are the dominant model system to study human health and disease. Yet, there is a pressing need to use diverse model systems to address long-standing issues in biomedical sciences. Mice do not spontaneously recapitulate many of the diseases we seek to study.

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Chronic non-specific neck pain (CNSNP) is a common condition and its relationship to the pain catastrophizing construct in terms of sensorimotor functions and dual task performance is not fully understood. We aimed to investigate the differences in sensorimotor integration, cervical sensorimotor control, and cognitive-motor dual tasking abilities between CNSNP patients (> 3 months) with high versus low catastrophizing tendencies and healthy controls. Ninety participants were recruited, 30 asymptomatic controls, and 60 patients with CNSNP; 30 scoring high (> 75 percentile) and 30 scoring low (< 25th percentile) on the pain catastrophizing scale (PCS).

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Pediatric intensive care patients are particularly susceptible to severe bacterial infections because of ineffective neutrophil responses. The reasons why neutrophils of newborns are less responsive than those of adults are not clear. Because adenosine triphosphate (ATP) and adenosine (ADO) tightly regulate neutrophils, we studied whether the ATP and ADO levels in the blood of newborn mice could impair the function of their neutrophils.

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To evaluate the feasibility of liver tract embolization after transhepatic biliary drainage using a biodegradable polymer plug (IMPEDE-FX, Shape Memorial Medical, Santa Clara, CA, USA).In a retrospective observational study, 15 plug embolizations were performed in 13 patients at risk for tract-related adverse events (AEs). Risk factors included coagulopathy, cirrhosis, central bile duct puncture, previous drain-related bleeding, malignant obstruction, large tract diameter, or multilevel strictures.

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Definition and diagnostic criteria of clinical obesity.

Lancet Diabetes Endocrinol

January 2025

Division of Diabetes & Nutritional Sciences, School of Cardiovascular and Metabolic Medicine & Sciences, King's College London, London, UK; Catholic University of the Sacred Heart, Rome, Italy; University Polyclinic Foundation Agostino Gemelli IRCCS, Rome, Italy.

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Outcomes after medical treatment for primary aldosteronism: an international consensus and analysis of treatment response in an international cohort.

Lancet Diabetes Endocrinol

January 2025

Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Clayton, VIC, Australia; Department of Endocrinology, Monash Health, Clayton, VIC, Australia.

Background: Primary aldosteronism can be treated medically but there is no standardised method to evaluate treatment outcomes. We aimed to develop criteria for assessing the outcomes of targeted medical treatment of primary aldosteronism, analyse outcomes across an international cohort, and identify factors associated with a complete treatment response.

Methods: An international panel of 31 primary aldosteronism experts used the Delphi method to reach consensus on the definition of complete, partial, or absent biochemical and clinical outcomes of medical treatment of primary aldosteronism.

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Estimating the epidemiological and economic impact of providing nutritional care for tuberculosis-affected households across India: a modelling study.

Lancet Glob Health

January 2025

TB Modelling Group, TB Centre, and Centre for Mathematical Modelling of Infectious Diseases, Department of Infectious Disease Epidemiology, London School of Hygiene & Tropical Medicine, London, UK.

Background: Approximately 20% of global tuberculosis incidence is attributable to undernutrition, increasing to more than a third in India. Targeting nutritional interventions to tuberculosis-affected households is a policy priority, but understanding of epidemiological and economic impacts is limited. We aimed to estimate the population-level epidemiological and economic effect of such an intervention.

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Adjuvant aspirin therapy and colorectal cancer survival.

Lancet Gastroenterol Hepatol

January 2025

Departments of Epidemiology and Nutrition, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Clinical and Translational Epidemiology Unit and Division of Gastroenterology, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address:

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The FIRE biosensor illuminates iron regulatory protein activity and cellular iron homeostasis.

Cell Rep Methods

January 2025

Department of Pathology, University of California, San Francisco, San Francisco, CA, USA; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA. Electronic address:

On Earth, iron is abundant, bioavailable, and crucial for initiating the first catalytic reactions of life from prokaryotes to plants to mammals. Iron-complexed proteins are critical to biological pathways and essential cellular functions. While it is well known that the regulation of iron is necessary for mammalian development, little is known about the timeline of how specific transcripts network and interact in response to cellular iron regulation to shape cell fate, function, and plasticity in the developing embryo and beyond.

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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Am J Hum Genet

January 2025

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Disease, University of Tübingen, Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE). Electronic address:

Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy.

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Characterizing substructure via mixture modeling in large-scale genetic summary statistics.

Am J Hum Genet

January 2025

Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Human Medical Genetics and Genomics Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Mathematical and Statistical Sciences, University of Colorado Denver, Denver, CO 80204, USA; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address:

Genetic summary data are broadly accessible and highly useful, including for risk prediction, causal inference, fine mapping, and incorporation of external controls. However, collapsing individual-level data into summary data, such as allele frequencies, masks intra- and inter-sample heterogeneity, leading to confounding, reduced power, and bias. Ultimately, unaccounted-for substructure limits summary data usability, especially for understudied or admixed populations.

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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Am J Hum Genet

January 2025

Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

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A biophysical basis for the spreading behavior and limited diffusion of Xist.

Cell

January 2025

Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA, USA. Electronic address:

Xist RNA initiates X inactivation as it spreads in cis across the chromosome. Here, we reveal a biophysical basis for its cis-limited diffusion. Xist RNA and HNRNPK together drive a liquid-liquid phase separation (LLPS) that encapsulates the chromosome.

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Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease.

Cell

January 2025

Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02215, USA; Howard Hughes Medical Institute, Boston, MA 02215, USA. Electronic address:

In Huntington's disease (HD), striatal projection neurons (SPNs) degenerate during midlife; the core biological question involves how the disease-causing DNA repeat (CAG) in the huntingtin (HTT) gene leads to neurodegeneration after decades of biological latency. We developed a single-cell method for measuring this repeat's length alongside genome-wide RNA expression. We found that the HTT CAG repeat expands somatically from 40-45 to 100-500+ CAGs in SPNs.

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Simplifying clinical use of TCGA molecular subtypes through machine learning models.

Cancer Cell

January 2025

Computational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA; Halvorsen Center for Computational Oncology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA. Electronic address:

In this issue of Cancer Cell, Ellrott et al. present machine learning models to classify samples into The Cancer Genome Atlas molecular subtypes using compact sets of genomic features. These validated, ready-to-use models are publicly available, although some clinical hurdles need to be cleared before they are fully implemented.

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