Telemedicine and Resource Utilization in Pulmonary Clinic.

BACKGROUND: Telemedicine use increased with the Covid-19 pandemic. The impact of telemedicine on resource use in pulmonary clinics is unknown. METHODS: This retrospective cohort study identified adults with pulmonary clinic visits at the University of Miami Hospital and Clinics (January 2018-December 2021). The primary exposure was telemedicine versus in-person visits. Standard statistics were used to describe the cohort and compare patients stratified by visit type. Multivariable logistic regression models evaluated the association of telemedicine with resource use (primarily, computed tomography [CT] orders placed within 7 days of visit). RESULTS: 21,744 clinic visits were included: 5,480 (25.2%) telemedicine and 16,264 (74.8%) in-person. In both, the majority were < 65-years-old, female, and identified as Hispanic white. Patients seen with telemedicine had increased odds of having CT scans ordered within 7 days (adjusted odds ratio [aOR] 1.34, [95% confidence interval 1.04-1.74]); and decreased odds of chest x-rays (aOR 0.37 [0.23-0.57]). Telemedicine increased odds of contact of any kind with our healthcare system within 30-days (aOR 1.56 [1.29-1.88]) and 90-days (aOR 1.39 [1.17-1.64]). Specifically, telemedicine visits had decreased odds of emergency department visits and hospitalizations (30 days: aOR 0.54 [0.38-0.76]; 90 days: aOR 0.68 [0.52-0.89]), but increased odds of phone calls and electronic health record inbox messages (30 days: aOR 3.44 [2.73-4.35]; 90 days: aOR 3.58 [2.95-4.35]). CONCLUSIONS: Telemedicine was associated with an increased odds of chest CT order with a concomitant decreased odds of chest x-ray order. Increased contact with the healthcare system with telemedicine may represent a larger time burden for outpatient clinicians.

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.

Nemaline myopathy (NM) is the most common form of congenital myopathy that results in hypotonia and muscle weakness. This disease is clinically and genetically heterogeneous, but three recently discovered genes in NM encode for members of the Kelch family of proteins. Kelch proteins act as substrate-specific adaptors for Cullin 3 (CUL3) E3 ubiquitin ligase to regulate protein turnover through the ubiquitin-proteasome machinery. Defects in thin filament formation and/or stability are key molecular processes that underlie the disease pathology in NM; however, the role of Kelch proteins in these processes in normal and diseases conditions remains elusive. Here, we describe a role of NM causing Kelch protein, KLHL41, in premyofibil-myofibil transition during skeletal muscle development through a regulation of the thin filament chaperone, nebulin-related anchoring protein (NRAP). KLHL41 binds to the thin filament chaperone NRAP and promotes ubiquitination and subsequent degradation of NRAP, a process that is critical for the formation of mature myofibrils. KLHL41 deficiency results in abnormal accumulation of NRAP in muscle cells. NRAP overexpression in transgenic zebrafish resulted in a severe myopathic phenotype and absence of mature myofibrils demonstrating a role in disease pathology. Reducing Nrap levels in KLHL41 deficient zebrafish rescues the structural and function defects associated with disease pathology. We conclude that defects in KLHL41-mediated ubiquitination of sarcomeric proteins contribute to structural and functional deficits in skeletal muscle. These findings further our understanding of how the sarcomere assembly is regulated by disease-causing factors in vivo, which will be imperative for developing mechanism-based specific therapeutic interventions.

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

The identification of genes implicated in myopathies is essential for diagnosis and for revealing novel therapeutic targets. Here we characterize a novel subclass of congenital myopathy at the morphological, molecular, and functional level. Through exome sequencing, we identified de novo ACTN2 mutations, a missense and a deletion, in two unrelated patients presenting with progressive early-onset muscle weakness and respiratory involvement. Morphological and ultrastructural analyses of muscle biopsies revealed a distinctive pattern with the presence of muscle fibers containing small structured cores and jagged Z-lines. Deeper analysis of the missense mutation revealed mutant alpha-actinin-2 properly localized to the Z-line in differentiating myotubes and its level was not altered in muscle biopsy. Modelling of the disease in zebrafish and mice by exogenous expression of mutated alpha-actinin-2 recapitulated the abnormal muscle function and structure seen in the patients. Motor deficits were noted in zebrafish, and muscle force was impaired in isolated muscles from AAV-transduced mice. In both models, sarcomeric disorganization was evident, while expression of wild-type alpha-actinin-2 did not result in muscle anomalies. The murine muscles injected with mutant ACTN2 displayed cores and Z-line defects. Dominant ACTN2 mutations were previously associated with cardiomyopathies, and our data demonstrate that specific mutations in the well-known Z-line regulator alpha-actinin-2 can cause a skeletal muscle disorder.

Identification of a Human Trafficking Victim: A Simulation.

Audience: This case was designed for emergency medicine interns and residents. Introduction: Human trafficking is unfortunately an ever-growing and wide-reaching problem in the United States as well as the rest of the world. The International Labor Organization estimates 49.6 million people were affected by this modern-day slavery worldwide in 2021.1,2 The emergency department represents an opportunity to identify and provide aid to victims of human trafficking. Studies have shown that 63.3% of survivors interacted with the emergency department during their time of exploitation; however, most of these patients are not identified as human trafficking victims and opportunities for intervention are missed.3,4. Educational Objectives: By the end of this simulation, participants will be able to: (1) Identify signs of human trafficking. (2) Demonstrate the ability to perform a primary and secondary assessment of a patient when there is concern for human trafficking. (3) Demonstrate the ability to appropriately separate an at-risk patient from a potential trafficker. (4) Identify resources and a reliable course of action to permanently remove the patient from the harmful situation. Educational Methods: A hybrid teaching model was employed that included both a lecture and a standardized patient simulation session followed by a structured debriefing session. Research Methods: A simulation with a standardized participant was implemented at an urban academic emergency department with a three-year EM residency program. Participants were evaluated with a survey prior to and after the simulation, where they responded to questions regarding human trafficking patients on a scale of 1 to 5, where 5 represented the greatest level of agreement. Nineteen emergency medicine interns and residents participated in this project. Results: Prior to simulation training, and after the lecture, residents were surveyed on their confidence in identifying and treating patients who are affected by trafficking, their level of previous training in this topic, and whether they considered trafficking an important issue in emergency medicine. When asked if human trafficking is an important issue faced by the emergency department, 15 of the 19 of residents who completed the survey rated the importance a 5/5 on a Likert scale ranging from 1-not important to 5. Residents were also asked if they had received prior training in human trafficking on a scale of never (1) to often (5). Eight residents responded with either never or close to never. Two months after the simulation, the residents were again sent an optional survey. Ten residents responded. All who participated in the simulation now rated themselves a 4/5 on a scale from not confident to very confident. Of those who did not attend the simulation, the median value was a 3/5. Out of the residents who attended the simulation training, every resident rated the experience 5 out of 5 in terms of usefulness. One hundred percent of residents would recommend simulation training on human trafficking to other emergency medicine residents. Discussion: This was an effective educational initiative because this education model allowed the residents to feel more comfortable identifying individuals affected by human trafficking, and all the residents who responded to the survey stated that they would recommend the use of simulation to others for education on human trafficking. Topics: High-fidelity simulation, human trafficking identification, human trafficking response.