Identification of genomic loci regulating platelet plasminogen activator inhibitor-1 in mice.

Background: Plasminogen activator inhibitor-1 (PAI-1, Serpine1) is an important circulating fibrinolysis inhibitor. PAI-1 exists in 2 pools, packaged within platelet α-granules and freely circulating in plasma. Elevated plasma PAI-1 levels are associated with cardiovascular disease.

Injury Risk in Collegiate Football Players With Generalized Joint Hypermobility: A Prospective Cohort Study Over 2 Years.

Background: Generalized joint hypermobility (GJH) has been identified as a risk factor for injury in various athletic patient populations.

Purpose: To evaluate GJH as a predisposing risk factor for injury in a population of National Collegiate Athletic Association (NCAA) Division I football players.

Study Design: Cohort study; Level of evidence, 2.

Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations.

Color vision defects (CVDs) are conditions characterized by the alteration of normal trichromatic vision. CVDs can arise as the result of alterations in three genes (, , ) or as a combination of genetic predisposition and environmental factors. To date, apart from Mendelian CVDs forms, nothing is known about multifactorial CVDs forms.

To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders.

Speech and language development are complex neurodevelopmental processes that are incompletely understood, yet current evidence suggests that speech and language disorders are prominent in those with disorders of chromatin regulation. This review aimed to unravel what is known about speech and language outcomes for individuals with chromatin-related neurodevelopmental disorders. A systematic literature search following PRISMA guidelines was conducted on 70 chromatin genes, to identify reports of speech/language outcomes across studies, including clinical reports, formal subjective measures, and standardised/objective measures.

Increase of Severe Pulmonary Infections in Adults Caused by M1 Streptococcus pyogenes, Central Scotland, UK.

We characterized the epidemiology, host-pathogen characteristics, and outcomes of severe adult pulmonary Streptococcus pyogenes infections that coincided with a high community caseload in central Scotland, UK. The pulmonary infections had high illness and death rates and were associated with socioeconomic deprivation, influenza A co-infection, and the M1 lineage of S. pyogenes.

Repeatability and comparison of 2D and 4D flow MRI measurement of intracranial blood flow and pulsatility in healthy individuals and patients with cerebral small vessel disease.

Introduction: While 2D phase-contrast MRI is often used to examine intracranial vessels in neurovascular disease contexts, the ability of 4D flow to assess many vessels at once makes it an attractive alternative. We aimed to assess the repeatability, reliability, and conformity of 2D and 4D flow across intracranial vessels.

Methods: Using correlation analyses and paired -tests, test-retest repeatability, intra-rater reliability, and inter-method conformity for measurements of pulsatility index (PI) and mean flow were assessed in the arteries and veins of 11 healthy volunteers.

Histopathology reporting of temporal artery biopsy specimens for giant cell arteritis: results of a modified Delphi study.

Unlabelled: The temporal artery biopsy (TAB) is regarded as the gold-standard test in the diagnosis of giant cell arteritis (GCA). There is a lack of agreement among experienced pathologists regarding the diagnostic features and classification of inflammation observed in TAB sections in the diagnosis of GCA.

Aims: The aim of this research study was to establish consensus on the key parameters which should be included in a standardised reporting proforma for TAB specimens.

Incidence and prevalence of interstitial lung diseases worldwide: a systematic literature review.

Interstitial lung disease (ILD) is a collective term representing a diverse group of pulmonary fibrotic and inflammatory conditions. Due to the diversity of ILD conditions, paucity of guidance and updates to diagnostic criteria over time, it has been challenging to precisely determine ILD incidence and prevalence. This systematic review provides a synthesis of published data at a global level and highlights gaps in the current knowledge base.

Outcomes following arthroscopic repair of humeral avulsion of the glenohumeral ligament (HAGL) lesion: A systematic review.

Purpose: The purpose of this systematic review was to evaluate patient outcomes following arthroscopic surgical management for a humeral avulsion of the glenohumeral ligament (HAGL) lesion.

Methods: Based on PRISMA guidelines, two independent reviewers performed a literature search to isolate studies on arthroscopic HAGL repair. The functional outcomes, return to play (RTP), and recurrent instability from each study were extracted and analyzed.

Defining and Measuring Preclinical Mobility Limitation: An Expert Consensus Exercise Informed by a Scoping Review.

Background: Early change in function in older adults has been termed preclinical disability (PCD). PCD has been understudied compared to other stages of disability because it is unlikely to receive comparative priority in clinical settings. It has major implications for prevention and population health as it may be the optimal time to intervene to prevent further decline.

The Impact of the Dobbs Decision on Diagnostic Radiology Applicants, Residents, and Program Directors.

In the Dobbs decision the United States Supreme Court overturned Roe v. Wade, returning the issue of abortion to the states. To date, there is little published data on the impact this might have on where future residents choose to pursue graduate medical education.

Comparison of Impact Accelerations During Performance of Common Ballet Maneuvers: A Pilot Study.

Introduction: Ballet landings produce accelerations that are transmitted proximally up the kinetic chain. If overly excessive/repetitive, these "shocks" to the lower body may contribute to overuse injury. The shocks imposed by different ballet maneuvers are largely unknown at this time, making it difficult to appreciate the physical stresses associated with different maneuvers.

"Each week feels like a mountain": The impact of COVID-19 on mental health providers' wellbeing and clinical work.

The SARS-CoV-2 (COVID-19) pandemic has placed a tremendous strain on healthcare providers. Although there is a burgeoning body of literature on how COVID-19 has impacted frontline healthcare workers (i.e.

Association Between In-Training Exam Scores and Clinical Exposure During the COVID-19 Pandemic.

Background: We sought to evaluate changes in In-Training Examination (ITE) scores and associations with clinical work during the COVID-19 pandemic. We hypothesized that residents saw a decrease in clinical encounters during the pandemic and that this would be associated with smaller gains in ITE scores.

Methods: We compared ITE score changes with data on patient notes for three classes of pediatric residents at four residency programs: one not exposed to the pandemic during their intern year who entered residency in 2018, one partially exposed to COVID-19 in March of their intern year (2019-2020), and one that was fully exposed to the pandemic, starting residency in June of 2020.

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with / variants.

Accurate diagnosis for patients living with neurodevelopmental disorders is often met with numerous challenges, related to the ambiguity of findings and lack of specificity in genetic variants leading to pathology. Genome-wide DNA methylation analysis has been used to develop highly sensitive and specific 'episignatures' as biomarkers capable of differentiating and classifying complex neurodevelopmental disorders. In this study we describe distinct episignatures for KAT6A syndrome, caused by pathogenic variants in the lysine acetyltransferase A gene (), and for the two neurodevelopmental disorders associated with lysine acetyl transferase B ().

GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome.

Purpose: GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent caregivers. In this study, the GenIDA data on Koolen-de Vries syndrome (KdVS) was analyzed illustrating the value of GenIDA and patient/caregiver participation in rare genetic neurodevelopmental disorders (NDDs).

Methods: Recruitment was done on the GenIDA website from November 2016 to February 2022.

Diagnostic delay is associated with uveitis and inflammatory bowel disease in AS: a study of extra-musculoskeletal manifestations in SpA.

Objectives: To examine the prevalence of extra-musculoskeletal manifestations (EMM) and the association between diagnostic delay and their incidence in AS and PsA.

Methods: This was a retrospective, cohort study comprising two single centre cohorts in Europe and one multicentre cohort in Latin America (RESPONDIA). Crude prevalence of EMMs (uveitis, IBD and psoriasis) was calculated across geographic area and adjusted by direct standardization.

Hesitant or not: A cross-sectional study of socio-demographics, conspiracy theories, trust in public health information, social capital and vaccine hesitancy among older adults in Ghana.

Vaccination is an effective strategy to reduce the coronavirus disease 2019 (COVID-19) burden, but its effectiveness hinges on timely vaccine uptake. Addressing concerns among vaccine-hesitant individuals is critical to preventing the immunization program from failing. This study analyzes the determinants of vaccine hesitance among older adults (aged 50 years and older) in Ghana.

Marital quality and depression as mediators linking childhood maltreatment to adult physical health.

Background: Childhood maltreatment is known to influence adult physical health among midlife adults. Evidence suggests that depressive symptoms mediate the association. However, research has discounted the role of marital quality in understanding health outcomes among adults maltreated in childhood.