Publications by authors named "Skinner C"

Objective: The purpose of this study was to determine whether gray matter volume and diffusion-based metrics in associated white matter changed in breachers who had neuroimaging performed at two timepoints. A secondary purpose was to compare these changes in a group who had a one-year interval between their imaging timepoints to a group that had a two-year interval between imaging.

Methods: Between timepoints, clusters with significantly different gray matter volume were used as seeds for reconstruction of associated structural networks using diffusion metrics.

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Article Synopsis
  • RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
  • The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
  • Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
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Background: Screening colonoscopy harms data are limited for adults ages 76-85 years.

Methods: We conducted a retrospective cohort study of screening colonoscopies vs. fecal immunochemical tests (FIT) and general population matched comparators aged 76-85 within 3 integrated healthcare systems (2010-2019).

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Introduction: Awareness, access, and use of clinical and direct-to-consumer (DTC) genetic tests has increased in recent years with documented disparities in these services. We provide updated data on test awareness and use, and report novel data on motivations and methods for accessing genetic tests.

Methods: Nationally representative data from the 2022 Health Information National Trends Survey (HINTS 6) were used to assess awareness and use of ancestry, personal trait, specific disease, and carrier testing by sociodemographic characteristics, examine reasons for undergoing tests, and methods of accessing them.

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This paper explores personal and professional development (PPD) as a key learning domain for the future of medical education and person-centered care. Guided by existing curriculum development models and lessons learned in practice, scenarios from academic and clinical learning environments will guide a theory-driven discussion of concepts and competencies that humanize the practice of medicine, such as emotional intelligence, professional identity formation, lifelong learning and inclusive practice. Factors contributing to contemporary curriculum implementation will be informed by a case study of a PPD program delivered to post-graduate medical students in Australia and propose an action-focused series of next steps to connect past, current and future directions for medical schools and graduates.

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Unlabelled: Biological age estimation from DNA methylation and determination of relevant biomarkers is an active research problem which has predominantly been tackled with black-box penalized regression. Machine learning is used to select a small subset of features from hundreds of thousands CpG probes and to increase generalizability typically lacking with ordinary least-squares regression. Here, we show that such feature selection lacks biological interpretability and relevance in the clocks of the first- and next-generations, and clarify the logic by which these clocks systematically exclude biomarkers of aging and disease.

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This paper discusses estimation and limited-information goodness-of-fit test statistics in factor models for binary data using pairwise likelihood estimation and sampling weights. The paper extends the applicability of pairwise likelihood estimation for factor models with binary data to accommodate complex sampling designs. Additionally, it introduces two key limited-information test statistics: the Pearson chi-squared test and the Wald test.

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Across the tree of life, pleiotropy is thought to constrain adaptation through evolutionary tradeoffs. However, few examples of pleiotropy exist that are well explained at the genetic level, especially for pleiotropy that is mediated by multiple genes. Here, we describe a set of pleiotropic mutations that mediate two key fitness components in bacteria: parasite resistance and motility.

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Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 20% of cases. Here, we report a case series of seven unrelated probands (6 males, 1 female) with ASD or another variable NDD phenotype attributed to de novo heterozygous loss of function or missense variants in the gene LARP1 (La ribonucleoprotein 1).

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Cannabidiol (CBD) is a major phytocannabinoid from . It is currently widely available and widely used in the USA, but despite its rapid progress to market, the pharmacology and toxicology of both CBD and cannabidiol-rich cannabis extracts (CRCE) remain largely unknown. The goals of this study were to investigate the potential of a novel human microphysiological system to emulate CRCE-induced hepatotoxicity and pharmacological properties demonstrated in animal models.

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Cannabidiol (CBD) has gained widespread popularity; however, its pharmacological and toxicological profiles in the context of human genetic diversity remain largely unexplored. Here, we investigated the variability in metabolism and toxicity of CBD-rich cannabis extract (CRCE) in genetically diverse mouse models: C57BL/6J, B6C3F/J, and NZO/HlLtJ strains. Mice received a single dose of CRCE containing 57.

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Outbreaks of corallivorous Crown of Thorns Starfish (Acanthaster spp.; CoTS) cause substantial coral mortality throughout the Indo-Pacific, particularly on the Great Barrier Reef (GBR). Refining CoTS population density modelling and understanding the disparities between real-world observations and model predictions is crucial for developing effective control strategies.

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The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders are currently unknown, and no diagnostic marker has been identified. Consequently, providing a definitive diagnosis in suspected individuals is challenging.

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Article Synopsis
  • X-linked intellectual disability (XLID) is a genetic condition affecting primarily males, leading to cognitive and physical impairments and associated with genetic defects on the X chromosome.
  • Researchers identified specific genetic variants in the SRPK3 gene linked to XLID in nine patients and developed a zebrafish model to study SRPK3's function.
  • The study found that mutations in SRPK3 are tied to common symptoms seen in XLID, including intellectual disability and abnormal eye movement, emphasizing its critical role in neurodevelopmental disorders.
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Background: Guidelines for managing abnormal cervical cancer screening results are complex and adherence is challenging for clinicians. Previous studies have identified gaps in knowledge as a possible cause; few have explored the confidence clinicians have in their management decisions. Confidence in decision-making may influence management practices, particularly when guidelines are complex and evolving.

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Recent advances in the treatment of chronic wounds have focused on the development of effective strategies for cutting-edge wound dressings based on nanostructured materials, particularly biocompatible poly(vinyl alcohol) (PVA)-based electro-spun (e-spun) nanofibers. However, PVA nanofibers need to be chemically crosslinked to ensure their dimensional stability in aqueous environment and their capability to encapsulate bioactive molecules. Herein, a robust approach for the fabrication of pH-degradable e-spun PVA nanofibers crosslinked with dynamic boronic ester (BE) linkages through a coupling reaction of PVA hydroxyl groups with the boronic acid groups of a phenyl diboronic acid crosslinker is reported.

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Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation. Individuals bearing variants within the bipartite nuclear localization (BNL) signal domain of ADNP present with the neurodevelopmental disorder known as Helsmoortel-Van Der Aa Syndrome (HVDAS).

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Article Synopsis
  • Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with diverse genetic and clinical characteristics, currently diagnosed based on behavioral criteria, which limits treatment options.
  • The DEPI platform utilizes systems biology and machine learning to identify distinct subgroups of patients with neurodevelopmental disorders, successfully validating a subgroup known as ASD Phenotype 1 (ASD-Phen1) that represents about 24% of those studied.
  • The research highlights specific molecular changes in patients with ASD-Phen1 and examines how a combination treatment, STP1, could potentially address these issues, paving the way for more personalized and effective treatments for ASD.
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Background/objective: Multilevel barriers to colonoscopy after a positive fecal blood test for colorectal cancer (CRC) are well-documented. A less-explored barrier to appropriate follow-up is repeat fecal testing after a positive test. We investigated this phenomenon using mixed methods.

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Background: The Canadian Special Operations Forces Command conducts explosives operations and training which exposes members to explosive charges at close proximity. This 5-year longitudinal trial was conducted in follow-up to our initial trial which examined military breachers with MRI and EEG pre and post blast exposure.

Purpose: To examine brain MRI findings in military personnel exposed to multiple repeated blast exposures.

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Multiple-baseline-across-word-sets designs were used to determine whether a computer-based intervention would enhance accurate word signing with four participants. Each participant was a hearing college student with reading disorders. Learning trials included 3 s to observe printed words on the screen and a video model performing the sign twice (i.

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Importance: Postpolypectomy surveillance is a common colonoscopy indication in older adults; however, guidelines provide little direction on when to stop surveillance in this population.

Objective: To estimate surveillance colonoscopy yields in older adults.

Design, Setting, And Participants: This population-based cross-sectional study included individuals 70 to 85 years of age who received surveillance colonoscopy at a large, community-based US health care system between January 1, 2017, and December 31, 2019; had an adenoma detected 12 or more months previously; and had at least 1 year of health plan enrollment before surveillance.

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Over the last few decades, measurements of light stable isotope ratios have been increasingly used to answer questions across physiology, biology, ecology, and archaeology. The vast majority analyse carbon (δC) and nitrogen (δN) stable isotopes as the 'default' isotopes, omitting sulfur (δS) due to time, cost, or perceived lack of benefits and instrumentation capabilities. Using just carbon and nitrogen isotopic ratios can produce results that are inconclusive, uncertain, or in the worst cases, even misleading, especially for scientists that are new to the use and interpretation of stable isotope data.

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