Validation of a Clinical Teaching Competency Framework for Physical Therapists: A Mixed-Methods Approach.

Objective: A competency framework for clinical teaching in physical therapy was established in a recent study. Validation of competency frameworks requires multiple steps, including consideration of end-user perceptions of value and utility. The purpose of this study was to further validate the Clinical Teaching Competency Framework by gathering input specifically from clinical education faculty.

Longitudinal echocardiography in pediatric patients with hypermobile Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos, Marfan and Loeys-Dietz syndromes have increased risk of aortic dilation and dissection. Previous early studies showed hypermobile Ehlers-Danlos syndrome (hEDS) may also have increased risk, with echocardiography screening recommended; subsequent studies have not confirmed the risk or recommended echocardiography. This pediatric-based study assessed aortic dilation prevalence in those with hEDS by serial echocardiographic examinations and assessed family history for aortic dissections.

Facilitators and Barriers to Providing Clinical Education Experiences Through the Lens of Clinical Stakeholders.

Introduction: Although the provision of clinical education (CE) experiences affords many benefits to clinical stakeholders, little published literature exists regarding the factors influencing decisions of site coordinators of CE (SCCE), clinical administrators, and clinical instructors (CI) to provide CE.

Review Of Literature: Site coordinators of CE and CIs navigate workplace expectations while making decisions about their engagement in CE experiences. The purpose of this study was to determine clinical stakeholders' perceptions of facilitators and barriers to the provision of CE experiences for entry-level Doctor of Physical Therapy students.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12).

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.

Background: Pathogenic variants in cause a spectrum of autosomal dominant and recessive cardiovascular, skeletal muscle and cardioskeletal disease with symptom onset across the lifespan. The aim of this study was to characterise the genotypes and phenotypes in a cohort of +paediatric patients.

Methods: Retrospective chart review was performed at four academic medical centres.

Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.

Background: Pathogenic GATA6 variants have been associated with congenital heart disease (CHD) and a spectrum of extracardiac abnormalities, including pancreatic agenesis, congenital diaphragmatic hernia, and developmental delay. However, the comprehensive genotype-phenotype correlation of pathogenic GATA6 variation in humans remains to be fully understood.

Methods: Exome sequencing was performed in a family where four members had CHD.

Impairment in Working Memory and Executive Function Associated with Mercury Exposure in Indigenous Populations in Upper Amazonian Peru.

The Matsigenka people living traditional lifestyles in remote areas of the Amazon rely on a fish-based diet that exposes them to methylmercury (MeHg) at levels that have been associated with decreased IQ scores. In this study, the association between Hg levels and working memory was explored using the framework of the Multicomponent Model. Working memory tasks were modified to fit the culture and language of the Matsigenka when needed and included measures for verbal storage (Word Span) visuospatial storage (Corsi Block Task) and a measure of executive functions, the Self-Ordered Pointing Task (SOPT).

Group size affects predation risk and foraging success in Pacific salmon at sea.

Grouping is ubiquitous across animal taxa and environments. Safety in numbers is perhaps the most cited reason for grouping, yet this fundamental tenet of ecological theory has rarely been tested in wild populations. We analyzed a multidecadal dataset of Pacific salmon at sea and found that individuals in larger groups had lower predation risk; within groups of fish, size outliers (relatively small and large fish) had increased predation risk.

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

Congenital heart disease (CHD) is a common group of birth defects with a strong genetic contribution to their etiology, but historically the diagnostic yield from exome studies of isolated CHD has been low. Pleiotropy, variable expressivity, and the difficulty of accurately phenotyping newborns contribute to this problem. We hypothesized that performing exome sequencing on selected individuals in families with multiple members affected by left-sided CHD, then filtering variants by population frequency, in silico predictive algorithms, and phenotypic annotations from publicly available databases would increase this yield and generate a list of candidate disease-causing variants that would show a high validation rate.

Clinical Teaching Competencies in Physical Therapist Education: A Modified Delphi Study.

Objective: Clinical instructors play a key role in physical therapist professional education but may serve with minimal preparation and without clearly defined expectations for their teaching performance. The objective of this study was to utilize a consensus-building process to establish core competencies of clinical teaching within physical therapist education.

Methods: A modified Delphi approach was used to identify core competencies of clinical teaching.

Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.

Background: Variation in lamin A/C results in a spectrum of clinical disease, including arrhythmias and cardiomyopathy. Benign variation is rare, and classification of LMNA missense variants via in silico prediction tools results in a high rate of variants of uncertain significance (VUSs).

Objective: The goal of this study was to use a machine learning (ML) approach for in silico prediction of LMNA pathogenic variation.

Cochlear Implant Behavioral Outcomes for Children With Auditory Neuropathy Spectrum Disorder: A Mini-Systematic Review.

Objective The aim of this mini-systematic review was to evaluate the evidence reporting speech, language, and auditory behavioral outcome measures for children with a diagnosis of auditory neuropathy spectrum disorder (ANSD) who received cochlear implants (CIs) prior to 3 years of age. Method A mini-systematic review of the literature supporting evidence-based practices was performed. Two databases were searched utilizing a search strategy derived from the PICO (patient, intervention, comparison, outcome) framework.

Proton Pump Inhibitors Inhibit PHOSPHO1 Activity and Matrix Mineralisation In Vitro.

Proton pump inhibitors (PPIs) have been associated with an increased risk of fragility fractures in pharmaco-epidemiological studies. The mechanism is unclear, but it has been speculated that by neutralising gastric acid, they may reduce intestinal calcium absorption, causing secondary hyperparathyroidism and bone loss. Here we investigated that hypothesis that the skeletal effects of PPI might be mediated by inhibitory effects on the bone-specific phosphatase PHOSPHO1.

Bidirectional effects of estradiol on the control of water intake in female rats.

The inhibitory effect of estradiol (E2) on water intake has been recognized for 50 years. Despite a rich literature describing this phenomenon, we report here a previously unidentified dipsogenic effect of E2 during states of low fluid intake. Our initial goal was to test the hypothesis that the anti-dipsogenic effect of E2 on unstimulated water intake is independent of its anorexigenic effect in female rats.

Influence of race on the effect of premature birth on salivary cortisol response to stress in adolescents.

Background: Adolescents born preterm have altered hypothalamic-pituitary-adrenal axis function with a blunted cortisol stress response, however, the influences of intrauterine growth restriction and race are unclear.

Methods: We measured salivary cortisol before and 20 min after a maximal-exercise stress test and calculated the cortisol stress response. We used linear regression to compare cortisol stress responses between preterm and term groups, adjusting for birth weight z-score and maternal hypertension, and examined effect modification by race and sex.

The Solution Structures and Interaction of SinR and SinI: Elucidating the Mechanism of Action of the Master Regulator Switch for Biofilm Formation in Bacillus subtilis.

Bacteria have developed numerous protection strategies to ensure survival in harsh environments, with perhaps the most robust method being the formation of a protective biofilm. In biofilms, bacterial cells are embedded within a matrix that is composed of a complex mixture of polysaccharides, proteins, and DNA. The gram-positive bacterium Bacillus subtilis has become a model organism for studying regulatory networks directing biofilm formation.

Gonadal hormones in female rats protect against dehydration-induced memory impairments in the novel object recognition paradigm.

Dehydration impairs cognitive performance in humans and rodents, although studies in animal models are limited. Estrogens have both protective effects on fluid regulation and improve performance in certain cognitive tasks. We, therefore, tested whether sex and gonadal hormones influence object recognition memory during dehydration.

Analysis of Clinical Education Situation (ACES) Framework: identifying the root cause of student Failure in the United States.

Doctor of Physical Therapy preparation requires extensive time in precepted clinical education which involves multiple stakeholders. Student outcomes in clinical education are impacted by many factors, and, in the case of failure, it can be challenging to determine which factors played a primary role in the poor result. Using existing root-cause analysis processes, the authors developed and implemented a framework designed to identify the causes of student clinical education failure.

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed.

Perceived Mentoring Practices in Developmental-Behavioral Pediatrics Fellowship Programs.

Objective: Junior physicians describe mentoring relationships as integral to their career development and success. Current evidence suggests that mentoring is under-utilized despite interest from trainees. The purpose of this study is to describe the mentoring practices in developmental-behavioral pediatric (DBP) fellowship programs and identify mentoring needs of DBP fellows and recent graduates.

Delayed signatures of underground nuclear explosions.

Radionuclide signals from underground nuclear explosions (UNEs) are strongly influenced by the surrounding hydrogeologic regime. One effect of containment is delay of detonation-produced radioxenon reaching the surface as well as lengthening of its period of detectability compared to uncontained explosions. Using a field-scale tracer experiment, we evaluate important transport properties of a former UNE site.

Ziram, a pesticide associated with increased risk for Parkinson's disease, differentially affects the presynaptic function of aminergic and glutamatergic nerve terminals at the Drosophila neuromuscular junction.

Multiple populations of aminergic neurons are affected in Parkinson's disease (PD), with serotonergic and noradrenergic loci responsible for some non-motor symptoms. Environmental toxins, such as the dithiocarbamate fungicide ziram, significantly increase the risk of developing PD and the attendant spectrum of both motor and non-motor symptoms. The mechanisms by which ziram and other environmental toxins increase the risk of PD, and the potential effects of these toxins on aminergic neurons, remain unclear.

Quality of life, shoulder range of motion, and spinal accessory nerve status in 5-year survivors of head and neck cancer.

Objective: To determine the association of neck dissection and radiation treatment for head and neck cancer (HNC) with subsequent shoulder range of motion (ROM) and quality of life (QOL) in 5-year survivors.

Design: A cross-sectional convenience sample.

Setting: Otolaryngology clinics at tertiary care hospital and Veterans Affairs medical center.

Survivorship care plans for patients with head and neck cancer.

Objective: To determine the perceived value of survivorship care plans (SCPs) (cancer treatment summaries and follow-up recommendations).

Design: Survey of patients and their physicians between 3 and 4 years after receipt of the SCP.

Setting: Ambulatory, tertiary care medical center.