Better together: A multistakeholder approach to developing specialty-wide entrustable professional activities in emergency medicine.

Purpose: Entrustable professional activities (EPAs) are a widely used framework for curriculum and assessment, yet the variability in emergency medicine (EM) training programs mandates the development of EPAs that meet the needs of the specialty as a whole. This requires eliciting and incorporating the perspectives of multiple stakeholders (i.e.

Clinical, biochemical and molecular characterization of a new case with -related mitochondrial disorder: Potential biomarkers and treatment options.

Unlabelled: Ferredoxin-2 (FDX2) is an electron transport protein required for iron-sulfur clusters biosynthesis. Pathogenic variants in have been associated with autosomal recessive -related disorder characterized by mitochondrial myopathy with or without optic atrophy and leukoencephalopathy. We described a new case harboring compound heterozygous variants in who presented with recurrent rhabdomyolysis with severe episodes affecting respiratory muscle.

Proteomic Associations of Adverse Outcomes in Human Heart Failure.

Background: Identifying novel molecular drivers of disease progression in heart failure (HF) is a high-priority goal that may provide new therapeutic targets to improve patient outcomes. The authors investigated the relationship between plasma proteins and adverse outcomes in HF and their putative causal role using Mendelian randomization.

Methods And Results: The authors measured 4776 plasma proteins among 1964 participants with HF with a reduced left ventricular ejection fraction enrolled in PHFS (Penn Heart Failure Study).

Proposal for standardized ultrasound analysis of the salivary glands: Part 1 submandibular gland.

Objectives: The Salivary Gland Committee of the American Academy of Otolaryngology-Head and Neck Surgery seeks to standardize terminology and technique for ultrasonograpy used in the evaluation and treatment of salivary gland disorders.

Methods: Development of expert opinion obtained through interaction with international practitioners representing multiple specialties. This committee work includes a comprehensive literature review with presentation of case examples to propose a standardized protocol for the language used in ultrasound salivary gland assessment.

Histone acetylation in an Alzheimer's disease cell model promotes homeostatic amyloid-reducing pathways.

Alzheimer's Disease (AD) is a disorder characterized by cognitive decline, neurodegeneration, and accumulation of amyloid plaques and tau neurofibrillary tangles in the brain. Dysregulation of epigenetic histone modifications may lead to expression of transcriptional programs that play a role either in protecting against disease genesis or in worsening of disease pathology. One such histone modification, acetylation of histone H3 lysine residue 27 (H3K27ac), is primarily localized to genomic enhancer regions and promotes active gene transcription.

The NFκB is required for behavioral and molecular correlates of sleep homeostasis in .

The nuclear factor binding the κ light chain in B-cells (NFκB) is involved in a wide range of cellular processes including development, growth, innate immunity, and sleep. However, efforts have been limited toward understanding how specific NFκB transcription factors function in sleep. fruit flies carry three genes encoding NFκB transcription factors, , (), and .

Association of Racial Residential Segregation With Long-Term Outcomes and Readmissions After Out-of-Hospital Cardiac Arrest Among Medicare Beneficiaries.

Background The national impact of racial residential segregation on out-of-hospital cardiac arrest outcomes after initial resuscitation remains poorly understood. We sought to characterize the association between measures of racial and economic residential segregation at the ZIP code level and long-term survival and readmissions after out-of-hospital cardiac arrest among Medicare beneficiaries. Methods and Results In this retrospective cohort study, using Medicare claims data, our primary predictor was the index of concentration at the extremes, a measure of racial and economic segregation.

Perturbation of the insomnia GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, .

Although genome wide association studies (GWAS) have been crucial for the identification of loci associated with sleep traits and disorders, the method itself does not directly uncover the underlying causal variants and corresponding effector genes. The overwhelming majority of such variants reside in non-coding regions and are therefore presumed to impact the activity of -regulatory elements, such as enhancers. Our previously reported 'variant-to-gene mapping' effort in human induced pluripotent stem cell (iPSC)-derived neural progenitor cells (NPCs), combined with validation in both and zebrafish, implicated as a functionally relevant gene at the insomnia '' locus.

The importance of the dyad: Participant perspectives on sharing biomarker results in Alzheimer's disease research.

Background: In the asymptomatic "preclinical" phase of Alzheimer's disease (AD), abnormal biomarkers indicate risk for developing cognitive impairment. Biomarker information is increasingly being disclosed to participants in research settings, and biomarker testing and results disclosure will be implemented in clinical settings in the future. Biomarker disclosure has potential psychosocial benefits and harms, impacting affected individuals and their support person(s).

Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome.

Purpose: The study goal was to validate the Observer-Reported Communication Ability (ORCA) measure for use with females with Rett Syndrome (RTT).

Methods: Qualitative interviews, including concept elicitation and cognitive interviewing methods, were conducted with 19 caregivers of individuals with RTT ages 2 and older. A quantitative study was then conducted in 279 caregivers to evaluate construct validity and reliability.

Perspectives on preparedness for pediatric emergencies after residency: A needs assessment.

Background: General emergency physicians provide most pediatric emergency care in the United States yet report more challenges managing emergencies in children than adults. Recommendations for standardized pediatric emergency medicine (PEM) curricula to address educational gaps due to variations in pediatric exposure during emergency medicine (EM) training lack learner input. This study surveyed senior EM residents and recent graduates about their perceived preparedness to manage pediatric emergencies to better inform PEM curricula design.

Feasibility of virtual Alzheimer's biomarker disclosure: Findings from an observational cohort.

Introduction: Increased availability of Alzheimer's disease (AD) biomarker tests provides older adults with opportunities to seek out and learn results. We evaluated the feasibility of virtually returning AD biomarker results.

Methods: Trained study clinicians disclosed amyloid positron emission tomography (PET) results and provided dementia risk-reduction counseling via televideo to cognitively unimpaired participants already enrolled in AD research ( = 99; mean age ± SD: 72.

Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.

Here we report the use of denosumab, a monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), as monotherapy for multicentric carpotarsal osteolysis syndrome (MCTO) in an 11.5-year-old male with a heterozygous missense mutation in (c.206C>T; p.

Safety and tolerability of lumbar puncture for the evaluation of Alzheimer's disease.

Introduction: Lumbar puncture (LP) to collect and examine cerebrospinal fluid (CSF) is an important option for the evaluation of Alzheimer's disease (AD) biomarkers but it is not routinely performed due to its invasiveness and link to adverse effects (AE).

Methods: We include all participants who received at least one LP in the Alzheimer's Disease Neuroimaging Initiative (ADNI) Study. For comparison between groups, two-sample -tests for continuous, and Pearson's chi-square test for categorical variables were performed.

Modernized Crowd Counting Strategies for Mass Gatherings-A Review.

Estimation of crowd size for large gatherings is an indispensable metric for event planners, local authorities, and emergency management. Currently, most crowd counting relies on dated methods such as people counters, entrance sensors, and ticket sales. Over the past decade, there has been rapid development in crowd counting techniques and related technology.

Listening session with the US Food and Drug Administration, Lewy Body Dementia Association, and an expert panel.

Unlabelled: The regulatory path for drug approval is increasingly well defined. Drugs for the treatment of Alzheimer disease (AD) need to show statistically significant benefit over placebo with respect to cognitive and functional measures, with the Clinical Dementia Rating scale and Alzheimer's Disease Assessment Scale-Cognitive Subscale being among the most often used instruments in AD clinical trials. In contrast, there are no validated instruments for use in clinical trials of drugs for the treatment of dementia with Lewy bodies.

Always Look on the Bright Side: Associations of Optimism With Functional Outcomes After Stroke.

Background Psychological health is as an important contributor to recovery after cardiovascular disease, but the roles of both optimism and depression in stroke recovery are not well characterized. Methods and Results A total of 879 participants in the SRUP (Stroke Recovery in Underserved Populations) 2005 to 2006 Study, aged ≥50 years, with incident stroke admitted to a rehabilitation facility were included. Optimism was assessed by the question: "Are you optimistic about the future?" Depression was defined by Center for Epidemiologic Studies Depression scale score >16.

Quality Indicators for the Diagnosis and Management of Eosinophilic Esophagitis.

Introduction: Despite best practice recommendations for managing eosinophilic esophagitis (EoE), variation in care exists.

Methods: We used established methodology for quality indicator development to identify metrics to define quality for the treatment of EoE.

Results: Among 29 proposed quality indicator statements, 9 (31%) were adopted as highly valid across all categories.

COVID-19 Infection and Contact Tracing Among Refugees in the United States, 2020-2021.

Refugees in the United States are believed to be at high risk of COVID-19. A cross-sectional study design was utilized to collect anonymous, online surveys from refugee communities in the United States during December 2020 to January 2021. We invited bilingual community leaders to share the survey link with other refugees aged ≥18 years.

Match Outcomes for Cardiovascular Disease Fellowship Training: 2010 to 2021.

Background This study elucidates recent trends in application and match rates in the Cardiovascular Disease Fellowship Match. We hypothesized that (1) match rates have increased with time; (2) match rates are highest for US allopathic graduates; and (3) most candidates match at 1 of their top 3 ranked fellowship choices. Methods and Results This was a retrospective cohort study of all applicants in the Cardiovascular Disease Fellowship Match from 2010 to 2021 (n=14 674).