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Humans evolved an extraordinarily expanded and complex cerebral cortex, associated with developmental and gene regulatory modifications 1-3 . Human accelerated regions (HARs) are highly conserved genomic sequences with human-specific nucleotide substitutions. Although there are thousands of annotated HARs, their functional contribution to human-specific cortical development is largely unknown 4,5 . HARE5 is a HAR transcriptional enhancer of the WNT signaling receptor Frizzled8 (FZD8) active during brain development 6 ...

OBJECTIVE: Physicians vary in their computed tomography (CT) scan usage. It remains unclear how physician gender relates to clinical practice or patient outcomes. The aim of this study was to assess the association between physician gender and decision to order head CT scans for older emergency patients who had fallen. METHODS: This was a secondary analysis of a prospective observational cohort study conducted in 11 hospital emergency departments (EDs) in Canada and the United States...

AIMS: Patients undergoing emergency general surgery are at high risk of complications and death. Our objectives were to estimate the incidence of emergency general surgery in a Swiss University Hospital, to describe the characteristics and outcomes of patients undergoing such procedures, and to study the impact of age on clinical outcomes. METHODS: This was a retrospective cohort study of adult patients who visited the emergency department (ED) of Geneva University Hospitals between January 2015 and December 2019...

PURPOSE: Successful patient-focused drug development involves selecting and measuring outcomes in clinical trials that are important to patients. The U.S. Food & Drug Administration's definition of clinical benefit includes how patients feel, function, or survive. Patients are considered the experts in describing how they feel and function. In cancer trials, patient-reported measures of physical function provide insight into how patients function at baseline, benefit from the interventions being studied, and the impact of treatment side effects...

PURPOSE: The U.S. Food & Drug Administration has identified physical functioning (PF) as a core patient-reported outcome (PRO) in cancer clinical trials. The purpose of this study was to identify PF PRO measures (PROMs) in adult cancer populations and classify the PROMs by content covered (facets of PF) in each measure. METHODS: As part of the Patient Reports of Physical Functioning Study (PROPS) research program, we conducted a targeted literature review to identify PROMs that could be used in clinical trials to evaluate PF from the patient perspective...

PURPOSE: GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments. METHODS: Forty-one individuals with type II (late-infantile and juvenile) GM1 participated in a single-site prospective observational study. RESULTS: Classification of 37 distinct variants using ACMG criteria resulted in the upgrade of six and the submission of four new variants...

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No abstract text is available yet for this article.

Introduction Residual neuromuscular block, defined as a quantitatively measured train-of-four ratio (TOFr) <0.9, is common postoperatively. Using a pragmatic trial design, we hypothesized that qualitative and/or clinical assessment of neuromuscular block would inadequately detect residual block following antagonism with neostigmine or sugammadex. Method After IRB approval and written informed consent, 74 children (aged 2-17 years), undergoing elective surgery and receiving rocuronium, were prospectively enrolled in the study at Children's Hospital Colorado and Children's Healthcare of Atlanta...

BACKGROUND: Higher numbers of family physicians (FPs) stopped practicing or retired during the COVID-19 pandemic, worsening the family doctor shortage in Canada. Our study objective was to determine which factors were associated with FPs' plans to retire earlier during the COVID-19 pandemic. METHODS: We administered two cross-sectional online surveys to Ontario FPs asking whether they were "planning to retire earlier" as a result of the pandemic during the first and third COVID-19 pandemic waves (Apr-Jun 2020 and Mar-Jul 2021)...

AIMS: For over 30 years, combined research and treatment settings in the US have been critical to conceptualizing care for first-episode psychosis (FEP). Here we describe an early example of such a context, the Services for the Treatment of Early Psychosis (STEP) clinic, which is affiliated with the University of Pittsburgh. METHODS: We describe STEP's historical roots and establishment in the early 1990s; STEP's research and treatment contributions, alongside its growth and ongoing leadership...

BACKGROUND: Fine particulate matter (PM2.5 ) exposure has been associated with liver cancer incidence and mortality in a limited number of studies. We sought to evaluate this relationship for the first time in a U.S. cohort with historical exposure assessment. METHODS: We used spatiotemporal prediction models to estimate annual average historical PM2.5 concentrations (1980-2015) at residential addresses of 499,729 participants in the NIH-AARP Diet and Health Study, a cohort in 6 states (California, Florida, Louisiana, New Jersey, North Carolina, and Pennsylvania) and 2 metropolitan areas (Atlanta, Georgia, and Detroit, Michigan) enrolled in 1995-1996 and followed up through 2017...

Glyphosate is the most widely applied herbicide worldwide. Glyphosate biomonitoring data are limited for agricultural settings. We measured urinary glyphosate concentrations and assessed exposure determinants in the Biomarkers of Exposure and Effect in Agriculture (BEEA) study. We selected four groups of BEEA participants based on self-reported pesticide exposure: recently exposed farmers with occupational glyphosate use in the last 7 days (n = 98), farmers with high lifetime glyphosate use (>80th percentile) but no use in the last 7 days (n = 70), farming controls with minimal lifetime use (n = 100), and nonfarming controls with no occupational pesticide exposures and no recent home/garden glyphosate use (n = 100)...

Purpose: Few studies have specifically targeted symptom management interventions for adolescent and young adult (AYA) cancer survivors. A greater understanding of AYA cancer survivors' experiences with cancer treatment-related symptoms would help develop age-appropriate oncology symptom management interventions. The purpose of this qualitative analysis was to explore AYA cancer survivors' experience with cancer treatment-related symptoms. Methods: Nineteen post-treatment AYA cancer survivors (18-39 years old) who self-reported moderate-severe cancer treatment-related symptom severity participated in video conferencing or telephone interviews...

Quality of care in assisted living communities (ALCs) is important to consumers. The coronavirus disease of 2019 (COVID-19) pandemic and associated emergency policies have posed major challenges on staff recruitment and retention. This study aimed to examine the relationship between organizational characteristics of ALCs in Florida and challenges with staff absence during COVID-19 ( N  = 129 ALCs). Results indicated that structures (provision of memory care services), processes of care (challenges hiring new staff, staff sent home to comply with precautions, and staff anxiety), and local COVID-19 positivity rate were significantly associated with staff absence due to fear of infection, sickness, or family responsibilities...

Pediatric pulmonology fellowship training programs are required by the Accreditation Council for Graduate Medical Education to report Pediatric Subspecialty Milestones biannually to track fellow progress. However, several issues, such as lack of subspecialty-specific context and ambiguous language, have raised concerns about their validity and applicability to use for fellow assessment and curriculum development. In this Perspective, we briefly share the process of the Pediatric Pulmonology Milestones 2.0 Work Group in creating new specialty-specific Milestones and tailoring information on the Harmonized Milestones to pediatric pulmonologists, with the goal of improving the Milestones' utility for stakeholders, including pulmonology fellows, faculty, program directors, and accrediting bodies...

BACKGROUND: Macro and meso level factors that influence the participation by clinical pharmacists in ward rounds include pharmacy management culture, commitment to ward rounds and adequate time for ward rounds being included in workload models. The 'micro' level factors that affect the involvement of clinical pharmacists in ward rounds have not been widely explored. OBJECTIVE: Explore 'micro' level factors to gain insight into clinical pharmacists' participation in interprofessional ward rounds in inpatient settings through the lens of social cognitive theory...

BACKGROUND: Patients with advanced/recurrent endometrial cancer have a poor prognosis and limited treatment options. Biomarkers such as tumor protein 53 ( TP53 ) in endometrial cancer can integrate novel strategies for improved and individualized treatment that could impact patient outcomes. In an exploratory analysis of the phase III ENGOT-EN5/GOG-3055/SIENDO study of selinexor maintenance monotherapy 80 mg in advanced/recurrent endometrial cancer, a pre-specified subgroup of patients with TP53 wild type (wt) endometrial cancer showed preliminary activity at long-term follow-up with a generally manageable safety profile (median progression-free survival 27...

INTRODUCTION: Doctor of Physical Therapy (DPT) education programs have been charged with developing a culturally competent health care workforce to better meet the needs of diverse communities and reduce health inequities. The purpose of this longitudinal, quasi-experimental educational intervention study was to examine the effects of an integrated DPT program curriculum on student cultural competence at a public, midsize, midwestern university. REVIEW OF LITERATURE: There is an abundance of research on conceptual models and frameworks for the development of cultural competence within health care education with many studies relying on self-perception to measure outcomes...

BACKGROUND: Diversity in leadership drives innovation. However, underrepresented minorities may face barriers. The aim of this study is to understand the impact of gender and race on the experience of leaders in hand surgery. METHODS: An anonymous survey was sent to leaders in hand surgery who attained the position of national society president, head of a division/department, or hand fellowship director. The survey assessed demographic information, grit, mentorship, and bias...