Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.

We compared the epilepsy phenotypes in children with genetically defined versus undefined autism spectrum disorder (ASD). A single-center retrospective study was conducted to investigate diagnostic yields of different genetic testing for children with ASD. Patients with at least one testing modality were included and classified as having genetically defined ASD or not based on updated genotype-phenotype correlation. Of the 523 patients included, 79 (15.1%) had results explaining their ASD diagnosis. WES (whole exome sequencing) outperformed CMA (chromosomal microarray) on diagnostic yield (23.0% versus 8.3%). Compared to those with non-diagnostic test(s), children with genetically defined ASD were associated with higher rates for microcephaly, hypotonia, dysmorphic features, and developmental delay/regression. The prevalence of epilepsy was significantly higher in children with genetically defined ASD than those without a genetic diagnosis (35.4% versus 16.4%, p < 0.001, power = 0.97). Furthermore, children with genetically defined ASD had a younger age of epilepsy onset (median 2.2 versus 5.0 years, p = 0.002, power = 0.90) and a higher rate of drug-resistant epilepsy although not reaching statistical significance (35.7% versus 21.9%, p = 0.20). Our study has provided further evidence to support WES as first-tier test for children with ASD and that an early genetic diagnosis has the potential to inform further surveillance and management for ASD comorbid conditions including epilepsy.

A Novel Use of a Not So "EZ-Blocker" For Lung Isolation During a Direct Transaortic Transcatheter Aortic Valve Replacement.

Alternate access transcatheter aortic valve replacement presents unique challenges for anesthesiologists, including the possible need for lung isolation while working with space constraints around the patient's airway. Troubleshooting lung isolation in these cases can be challenging, requiring quick thinking and adaptability while maintaining patient safety. We present a case of direct transaortic transcatheter aortic valve replacement with an endobronchial blocker ("EZ-blocker") used for lung isolation that required a novel use of the "EZ-blocker" to achieve adequate lung isolation.

Fluid Flow Analysis of Neonatal Dual-Lumen Cannulas for Venovenous Extracorporeal Membrane Oxygenation.

Hemolysis persists as a common and serious problem for neonatal patients on extracorporeal membrane oxygenation (ECMO). Since the cannula within the ECMO circuit is associated with hemolysis-inducing shear stresses, real-world internal fluid flow measurements are urgently needed to understand the mechanism and confirm computational estimates. This study appears to be the first experimental study of fluid flow inside commercial ECMO dual-lumen cannulas (DLCs) and first particle image velocimetry (PIV) visualization inside a complicated medical device. The internal geometries of four different opaque neonatal DLCs, both atrial and bicaval positioning geometries each sized 13 Fr and 16 Fr, were replicated by three-dimensional printing clear lumen scaled-up models, which were integrated in a circuit with appropriate ECMO flow parameters. PIV was then used to visualize two-dimensional fluid flow in a single cross section within the models. An empirical model accounting for shear stress and exposure time was used to compare the maximum expected level of hemolysis through each model. The maximum measured peak shear stress recorded was 16±2 Pa in the top arterial bicaval 13 Fr model. The atrial and 16 Fr cannula models never produced greater single-pass peak shear stress or hemolysis than the bicaval and 13 Fr models, respectively, and no difference was found in hemolysis at two different flow rates. After 5 days of flow, small DLC-induced hemolysis values for a single pass through each cannula were modeled to linearly accumulate and caused the most severe hemolysis in the bicaval 13 Fr DLC. Engineering and clinical solutions to improve cannula safety are proposed.

The Impact of a New Anesthesiology Residency Program on the Number of Medical Students Matching Into Anesthesiology at a Single Institution: A Retrospective Longitudinal Study.

Introduction There are projected workforce shortages within anesthesiology exacerbated by an increase in demand for anesthesia services and an aging anesthesia workforce. Given this mismatch, it is critical for the specialty to recruit the next generation of anesthesiologists and understand the factors affecting medical students' decision to apply to anesthesiology. This study aims to evaluate the impact of establishing a new anesthesiology residency program at a single institution on the number of medical students that match into anesthesiology in the subsequent years. Methods A single-center, retrospective longitudinal study examined the number of medical students matching into anesthesiology at a single institution between 2013 and 2023, five years before and after the establishment of an accredited anesthesiology residency program. The data were compared to aggregated data on all US medical student applicants through the National Resident Matching Program. Results The pre-anesthesiology residency match rate (2013-2018) of medical students from Alpert Medical School (AMS) was 2.47% while the post-anesthesiology residency match rate (2019-2023) was 4.30%. This represents a 74% increase in the average proportion of medical students matching into anesthesiology after the start of the residency program compared to a 20% increase nationally over the same time period. The rate of change of AMS matched applicants after the implementation of the AMS anesthesia residency program increased compared to the national applicant pool (p= 0.002). Conclusion The establishment of a new accredited anesthesiology residency program increased the proportion of medical students matching into anesthesiology at the affiliated medical school in the subsequent five years. Exposure to an academic anesthesiology program improves medical student interest and ultimately matches rates in anesthesiology, a vital tool to address the projected shortages in the anesthesiology workforce.