1,652 results match your criteria: "Washington University in Saint Louis.[Affiliation]"

Article Synopsis
  • Clubfoot is a common congenital condition characterized by a rigid inward and downward foot position, with its causes remaining largely unclear despite some known genetic factors.
  • Researchers analyzed exome sequence data from 1190 cases of non-syndromic clubfoot along with their family members, focusing on uncovering rare genetic variants associated with the condition across different ethnicities.
  • The study identified rare variants in 29 genes linked to clubfoot cases, including previously unrecognized genes, and revealed that a small percentage of cases had variants associated with known diseases, expanding the understanding of the genetic basis of clubfoot.
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  • PTSD genetics have been difficult to study compared to other psychiatric disorders, limiting our biological understanding of the condition.
  • A large-scale meta-analysis involving over 1.2 million individuals identified 95 genome-wide significant loci, with 80 being new discoveries related to PTSD.
  • Researchers identified 43 potential causal genes linked to neurotransmitter activity, developmental processes, synaptic function, and immune regulation, enhancing our knowledge of the neurobiological systems involved in PTSD.
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Molecular imaging of brain vesicular acetylcholine transporter provides a biomarker to explore cholinergic systems in humans. We aimed to characterize the distribution of, and optimize methods to quantify, the vesicular acetylcholine transporter-specific tracer (-)-(1-(8-(2-[F]fluoroethoxy)-3-hydroxy-1,2,3,4-tetrahydronaphthalen-2-yl)-piperidin-4-yl)(4-fluorophenyl)methanone ([F]VAT) in the brain using PET. Fifty-two healthy participants aged 21-97 y had brain PET with [F]VAT.

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Background: Increasing cannabis use among pregnant people and equivocal evidence linking prenatal cannabis exposure to adverse outcomes in offspring highlights the need to understand its potential impact on pregnancy and child outcomes. Assessing cannabis use during pregnancy remains a major challenge with potential influences of stigma on self-report as well as detection limitations of easily collected biological matrices.

Objective: This descriptive study examined the concordance between self-reported (SR) cannabis use and urine drug screen (UDS) detection of cannabis exposure during the first trimester of pregnancy and characterized concordant and discordant groups for sociodemographic factors, modes of use, secondhand exposure to cannabis and tobacco, and alcohol use and cotinine positivity.

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Objectives: To investigate if the 11+ injury prevention programme decreases the risk of hamstring injury and improves recovery time and determine whether compliance with the 11+ affects hamstring injury risk.

Methods: This study is a secondary analysis from a prospective cluster randomised controlled trial that included 65 National Collegiate Athletic Association (NCAA) division I and II men's soccer teams over the fall 2012 season. Thirty-one teams were randomised to the intervention group that were using the 11+ as their warm-up and 35 teams to the control group that continued to use their traditional warm-up.

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Single-stranded DNA (ssDNA) intermediates, which emerge during DNA metabolic processes are shielded by Replication Protein A (RPA). RPA binds to ssDNA and acts as a gatekeeper, directing the ssDNA towards downstream DNA metabolic pathways with exceptional specificity. Understanding the mechanistic basis for such RPA-dependent specificity requires a comprehensive understanding of the structural conformation of ssDNA when bound to RPA.

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Article Synopsis
  • Researchers studied how tau, a protein linked to Alzheimer’s disease (AD), spreads in the brain and affects different stages of the disease.
  • They looked at data from 445 people aged 50 and older to see how tau spread and tau burden (the amount of tau present) relate to amyloid, another substance related to AD.
  • They found that as Alzheimer’s progresses, both tau spread and burden increase, but tau spread may reveal changes earlier, which can help in designing better clinical trials for treatment.
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Enhancing the arsenal of methods available to shape implementation strategies and bolster knowledge translation is imperative. Stated preference methods, including discrete choice experiments (DCE) and best-worst scaling (BWS), rooted in economics, emerge as robust, theory-driven tools for understanding and influencing the behaviors of both recipients and providers of innovation. This commentary outlines the wide-ranging application of stated preference methods across the implementation continuum, ushering in effective knowledge translation.

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Inflammatory increased metabolic activity was discovered in the left anal canal on an 18 F-FDG PET/CT scan performed for initial staging of anal squamous cell carcinoma in a patient with history of perianal Crohn disease. This increased uptake was due to a complex intersphincteric perianal fistula with supralevator extension, with a secondary, contiguous, superficial focus of squamous cell carcinoma at the anal verge that was identified on an MRI performed on the same day.

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The role of polyunsaturated fatty acid (PUFA) biosynthesis in acute myeloid leukemia (AML) remains largely undefined. A comparative expression analysis of 35 genes encoding fatty acid biosynthesis enzymes showed that fatty acid desaturase 1 (FADS1) was highly expressed across multiple AML subtypes relative to healthy controls and that elevated FADS1 expression correlates with worse overall AML patient survival. Functionally, shRNA-mediated inhibition of FADS1 reduced AML cell growth in vitro and significantly delayed leukemia onset in an AML mouse model.

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The limited memory of value following value directed encoding.

Mem Cognit

August 2024

Department of Psychological and Brain Sciences, Washington University in Saint Louis, 1 Brookings Dr, St. Louis, MO, 63130, USA.

Article Synopsis
  • Items with higher values are recognized and recalled better than lower value items, but this is influenced more by learned strategies rather than automatic processing.
  • Experiments showed that giving specific instructions to focus on high-value items significantly increased recognition, while tasks that required more cognitive effort hindered the value-directed encoding effects.
  • A notable finding reveals that when asked about the value of recognized items, participants often relied on recognition strength as a cue, potentially leading to misconceptions about the true value, which could impact behavioral economics.
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Motile cilia assembly utilizes over 800 structural and cytoplasmic proteins. Variants in approximately 58 genes cause primary ciliary dyskinesia (PCD) in humans, including the dynein arm (pre)assembly factor (DNAAF) gene DNAAF4. In humans, outer dynein arms (ODAs) and inner dynein arms (IDAs) fail to assemble motile cilia when DNAAF4 function is disrupted.

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Background: There are no criteria specifically for evaluating the quality of implementation research and recommend implementation strategies likely to have impact to practitioners. We describe the development and application of the Best Practices Rubric, a set of criteria to evaluate the evidence supporting implementation strategies, in the context of HIV.

Methods: We developed the Best Practices Rubric from 2022-2023 in three phases.

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B lymphocytes may facilitate chronic inflammation through antibody production or secretion of cytokines, including lymphotoxin (LT)-ab associated with development of lymphoid tissue. Tertiary lymphoid structures (TLS) characterize human and murine ileitis by suppressing outflow from the ileum. Here, we show that B cell-derived secretory IgA protected against ileal inflammation, whereas B cell-derived LTa guarded against ileitis-associated loss of body mass.

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Germ cell tumors of childhood are tumors arising from germline cells in gonadal or extragonadal locations. Extragonadal germ cell tumors are characteristically located in the midline, arising intracranially or in the mediastinum, retroperitoneum, or pelvis. These tumors are generally easily diagnosed due to typical sites of origin, characteristic imaging findings, and laboratory markers.

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Background: Intra-articular corticosteroid injections (IACS) are interventions which provide pain relief in knee osteoarthritis (OA). It remains unclear whether IACS have a deleterious effect on knee cartilage structure.

Purpose: To estimate the effect of IACS on cartilage structure in patients with knee OA, using joint space width (JSW) (in radiographic studies), and cartilage thickness (in magnetic resonance imaging).

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Negative-differential-resistance (NDR) devices offer a promising pathway for developing future computing technologies characterized by exceptionally low energy consumption, especially multivalued logic computing. Nevertheless, conventional approaches aimed at attaining the NDR phenomenon involve intricate junction configurations and/or external doping processes in the channel region, impeding the progress of NDR devices to the circuit and system levels. Here, an NDR device is presented that incorporates a channel without junctions.

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Indirect electrochemical methods are a powerful tool for synthetic chemistry because they allow for the optimization of chemical selectivity in a reaction while maintaining the advantages of electrochemistry in terms of sustainability. Recently, we have found that such methods provide a handle for not only the synthesis of complex molecules, but also the construction of complex, addressable molecular surfaces. In this effort, the indirect electrochemical methods enable the placement or synthesis of molecules by any electrode or set of electrodes in a microelectrode array.

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Background: Optimal treatment of completely displaced midshaft clavicular fractures in adolescents remains controversial, with some favoring surgical management and others favoring a nonoperative approach. Few studies have comprehensively assessed longer-term nonoperative outcomes.

Purpose: To prospectively assess patient-reported outcomes (PROs) and radiographic remodeling ≥5 years after injury in teenagers undergoing nonoperative treatment of completely displaced clavicular fractures.

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A scoping review of artificial intelligence in medical education: BEME Guide No. 84.

Med Teach

April 2024

Center for Research, Innovation and Scholarship in Health Professions Education, Baylor College of Medicine, Houston, TX, USA.

Background: Artificial Intelligence (AI) is rapidly transforming healthcare, and there is a critical need for a nuanced understanding of how AI is reshaping teaching, learning, and educational practice in medical education. This review aimed to map the literature regarding AI applications in medical education, core areas of findings, potential candidates for formal systematic review and gaps for future research.

Methods: This rapid scoping review, conducted over 16 weeks, employed Arksey and O'Malley's framework and adhered to STORIES and BEME guidelines.

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Background And Aims: Semaglutide has been studied in patients with metabolic dysfunction-associated steatohepatitis (MASH) due to potential benefit from weight loss on liver inflammation. However, preclinical studies suggest that MASH improvement may be independent of weight loss. We aim to assess the impact of semaglutide on MASH in relation to weight loss.

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Background: The role for the transradial approach for mechanical thrombectomy is controversial. We sought to compare transradial and transfemoral mechanical thrombectomy in a large multicenter database of acute ischemic stroke.

Methods: The prospectively maintained Stroke Thrombectomy and Aneurysm Registry (STAR) was reviewed for patients who underwent mechanical thrombectomy for an internal carotid artery (ICA) or middle cerebral artery M1 occlusion.

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Solving the puzzle of Long Covid.

Science

February 2024

Scripps Research, La Jolla, CA, USA.

Long Covid provides an opportunity to understand how acute infections cause chronic disease.

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Individuals suffering from chronic pain develop substance use disorders (SUDs) more often than others. Understanding the shared genetic influences underlying the comorbidity between chronic pain and SUDs will lead to a greater understanding of their biology. Genome-wide association statistics were obtained from the UK Biobank for multisite chronic pain (MCP, N = 387,649) and from the Million Veteran Program and the Psychiatric Genomics Consortium meta-analyses for alcohol use disorder (AUD, N = 296,974), cannabis use disorder (CanUD, N = 161,053), opioid use disorder (OUD, N = 57,120), and problematic tobacco use (PTU, N = 270,120).

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We aimed to identify circRNAs associated with Parkinson's disease (PD) by leveraging 1,848 participants and 1,789 circRNA from two of the largest publicly available studies with longitudinal clinical and blood transcriptomic data. To comprehensively understand changes in circRNAs we performed a cross-sectional study utilizing the last visit of each participant, and a longitudinal (mix model) analysis that included 1,166 participants with at least two time points. We identified 192 circRNAs differentially expressed in PD participants compared to healthy controls, with effects that were consistent in the mixed models, mutation carriers, and diverse ancestry.

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