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Patients with posttraumatic stress disorder (PTSD) exhibit smaller regional brain volumes in commonly reported regions including the amygdala and hippocampus, regions associated with fear and memory processing. In the current study, we have conducted a voxel-based morphometry (VBM) meta-analysis using whole-brain statistical maps with neuroimaging data from the ENIGMA-PGC PTSD working group.
Methods
T1-weighted structural neuroimaging scans from 36 cohorts (PTSD n = 1309; controls n = 2198) were processed using a standardized VBM pipeline (ENIGMA-VBM tool). We meta-analyzed the resulting statistical maps for voxel-wise differences in gray matter (GM) and white matter (WM) volumes between PTSD patients and controls, performed subgroup analyses considering the trauma exposure of the controls, and examined associations between regional brain volumes and clinical variables including PTSD (CAPS-4/5, PCL-5) and depression severity (BDI-II, PHQ-9).
Results
PTSD patients exhibited smaller GM volumes across the frontal and temporal lobes, and cerebellum, with the most significant effect in the left cerebellum (Hedges’ g = 0.22, pcorrected = .001), and smaller cerebellar WM volume (peak Hedges’ g = 0.14, pcorrected = .008). We observed similar regional differences when comparing patients to trauma-exposed controls, suggesting these structural abnormalities may be specific to PTSD. Regression analyses revealed PTSD severity was negatively associated with GM volumes within the cerebellum (pcorrected = .003), while depression severity was negatively associated with GM volumes within the cerebellum and superior frontal gyrus in patients (pcorrected = .001).
Conclusions
PTSD patients exhibited widespread, regional differences in brain volumes where greater regional deficits appeared to reflect more severe symptoms. Our findings add to the growing literature implicating the cerebellum in PTSD psychopathology.
In the last few weeks, Kim Jong Il has inspected a pig farm, a mine, a solar thermal energy research unit, a restaurant, an orchestra, and even gave field guidance to the Tudan Duck Farm on how to raise these pesky birds, where he reportedly enjoyed an art performance given by the members of the art group of the Pyongyang Poultry Guidance Bureau at the newly built house of culture of the farm, and congratulated them on their successful performance. He also travelled to the industrial east coast city of Hamhung, a crosscountry trip that one of the authors, having done it, can attest requires a bit of effort. Accompanied by his son, Kim Jong Il even managed to visit a terrapin farm. Given all these visits, how one might ask, does the peripatetic Kim Jong Il find time for his commander-in-chief military and foreign policy duties?
To better understand clinicians’ rationale for ordering testing for C. difficile infection (CDI) for patients receiving laxatives and the impact of the implementation of a clinical decision support (CDS) intervention.
Design:
A mixed-methods, case series was performed from March 2, 2017 to December 31, 2018.
Setting:
Yale New Haven Hospital, a 1,541 bed tertiary academic medical center.
Participants:
Hospitalized patients ≥ 18 years old, and clinicians who were alerted by the CDS.
Intervention:
CDS was triggered in real-time when a clinician sought to order testing for CDI for a patient who received one or more doses of laxatives within the preceding 24 hours.
Results:
A total of 3,376 CDS alerts were triggered during the 21-month study period from 2,567 unique clinician interactions. Clinicians bypassed the CDS alert 74.5% of the time, more frequent among residents (48.3% bypass vs. 39.9% accept) and advanced practice providers (APPs) (34.9% bypass vs. 30.6% accept) than attendings (11.3% bypass vs. 22.5% accept). Ordering clinicians noted increased stool frequency/output (48%), current antibiotic exposure (34%), and instructions by an attending physician to test (28%) were among the most common reasons for overriding the alert and proceeding with testing for CDI.
Conclusions:
Testing for CDI despite patient laxative use was associated with an increased clinician concern for CDI, patient risk for CDI, and attending physician instruction for testing. Attendings frequently accepted CDS guidance while residents and APPs often reinstated CDI test orders, suggesting a need for greater empowerment and discretion when ordering tests.
Heart University [https://www.heartuniversity.org/] is a free educational website providing structured training curricula with knowledge-based testing and access to webinars and conference recordings for practicing and in-training providers of paediatric and congenital cardiac care. To date, there are over 15,000 registered website users from over 140 countries on Heart University, with over 2,000 training modules and/or recorded educational videos. Heart University has developed an “asynchronous” educational lecture series entitled “Pediatric and Congenital Cardiac Care in Resource-Limited Settings.” This recorded lecture series is specifically focused on topics relevant to practicing paediatric and/or congenital cardiac care in low-resource settings.
A relatively new initiative, “Cardiology Across Continents,” supplements the existing educational resources for providers of paediatric and/or congenital cardiac care in low-income countries and lower-middle-income countries by providing an additional live, interactive, case-based forum. Sessions occur every 1–2 months and focus on challenging cases from diagnostic or management perspective with a view to promote collaboration between partnered institutions. “Cardiology Across Continents” is an expanding initiative that facilitates learning and collaboration between clinicians across varied practice settings via interactive case discussions. We welcome trainees and providers of paediatric and congenital cardiac care to join the sessions and invite any insight that can enhance learning for clinicians around the world. This manuscript describes “Cardiology Across Continents” and discusses the development, history, current status, and future plans of Heart University.
Methamphetamine and cannabis are two widely used substances with possibly opposing effects on aspects of central nervous system functioning. Use of these substances is prevalent among people with HIV (PWH), though their combined effects on HIV-associated neurocognitive impairment (NCI) are unknown. Adverse effects of methamphetamine use on cognition are well documented. Cannabis may disturb cognition acutely, though its longer-term effects in PWH are not well understood. Our prior analysis of people without HIV (PWoH) found that cotemporaneous cannabis use was associated with better neurocognitive outcomes among methamphetamine users. The aim of this study was to assess how lifetime cannabis and methamphetamine use disorder relate to neurocognitive outcomes in PWH.
Participants and Methods:
HIV-positive participants (n=472) were on average 45.6±11.5 years of age, male (86.4%), White (60.6%), and educated 13.9±2.5 years. Most participants were on ART (81.9%) and virally suppressed (70%). Participants were stratified by lifetime methamphetamine (M-/M+) and cannabis (C-/C+) DSM-IV abuse/dependence disorder into four groups: M-C- (n=187), M-C+ (n=68), M+C-, (n=82) and M+C+ (n=135) and completed a comprehensive neurobehavioral assessment. Demographically corrected T-scores and deficit scores were used for analyses. Group differences in global and domain NC performances (i.e., T-scores) were examined using multiple linear regression, holding constant covariates that were associated with study groups and/or cognition. Specifically, M+ participants displayed higher rates of Hepatitis C infection (p=.004), higher current depressive symptom scores (p<.001), and higher rates of detectable plasma HIV RNA (p=.014). Multiple logistic regression was used to test for group differences in probability of neurocognitive impairment (i.e., deficit scores>0.5), including the same covariates. Pooling data with a sample of HIV-negative participants (n=423), we used generalized linear mixed effect models to examine how neurocognitive performance and impairment profiles varied by methamphetamine and/or cannabis use group, HIV disease characteristics, and their interactions.
Results:
Compared to M+C+, M+C- performed worse on measures of executive functions (ß=-3.17), learning (ß=-3.95), memory (ß=-5.58), and working memory (ß=-4.05) and were more likely to be classified as impaired in the learning (OR=2.93), memory (OR=5.24), and working memory (OR=2.48) domains. M-C- performed better than M+C+ on measures of learning (ß=3.46) and memory (ß=5.19), but worse than M-C+ on measures of executive functions (ß=-3.90), learning (ß=-3.32), memory (ß=-3.38), and working memory (ß=-3.38). Generalized linear mixed effect models indicate that detectable plasma HIV RNA (ß=-1.85) and low nadir CD4 T-cell counts (nadir CD4<200; ß=-1.07) were associated with worse neurocognitive performance, and these effects did not differ in size or direction by substance use group.
Conclusions:
In PWH, lifetime methamphetamine use disorder and both current and legacy markers of HIV disease severity are associated with worse neurocognitive outcomes. Cannabis use disorder does not appear to exacerbate methamphetamine-related deficits in PWH. Instead, results are consistent with findings from preclinical studies that cannabis use may protect against methamphetamine’s deleterious effects. Profile analysis models showed that participants with a history of cannabis use disorder display better overall neurocognitive performance than comparison (M-C-) participants. Mechanisms underlying a potential protective effect of cannabis may be elucidated by examining the temporal relationship between cannabis and methamphetamine consumption and neurocognitive performance.
The institutions (i.e., hubs) making up the National Institutes of Health (NIH)-funded network of Clinical and Translational Science Awards (CTSAs) share a mission to turn observations into interventions to improve public health. Recently, the focus of the CTSAs has turned increasingly from translational research (TR) to translational science (TS). The current NIH Funding Opportunity Announcement (PAR-21-293) for CTSAs stipulates that pilot studies funded through the CTSAs must be “focused on understanding a scientific or operational principle underlying a step of the translational process with the goal of developing generalizable solutions to accelerate translational research.” This new directive places Pilot Program administrators in the position of arbiters with the task of distinguishing between TR and TS projects. The purpose of this study was to explore the utility of a set of TS principles set forth by NCATS for distinguishing between TR and TS.
Methods:
Twelve CTSA hubs collaborated to generate a list of Translational Science Principles questions. Twenty-nine Pilot Program administrators used these questions to evaluate 26 CTSA-funded pilot studies.
Results:
Factor analysis yielded three factors: Generalizability/Efficiency, Disruptive Innovation, and Team Science. The Generalizability/Efficiency factor explained the largest amount of variance in the questions and was significantly able to distinguish between projects that were verified as TS or TR (t = 6.92, p < .001) by an expert panel.
Conclusions:
The seven questions in this factor may be useful for informing deliberations regarding whether a study addresses a question that aligns with NCATS’ vision of TS.
Female fertility is a complex trait with age-specific changes in spontaneous dizygotic (DZ) twinning and fertility. To elucidate factors regulating female fertility and infertility, we conducted a genome-wide association study (GWAS) on mothers of spontaneous DZ twins (MoDZT) versus controls (3273 cases, 24,009 controls). This is a follow-up study to the Australia/New Zealand (ANZ) component of that previously reported (Mbarek et al., 2016), with a sample size almost twice that of the entire discovery sample meta-analysed in the previous article (and five times the ANZ contribution to that), resulting from newly available additional genotyping and representing a significant increase in power. We compare analyses with and without male controls and show unequivocally that it is better to include male controls who have been screened for recent family history, than to use only female controls. Results from the SNP based GWAS identified four genomewide significant signals, including one novel region, ZFPM1 (Zinc Finger Protein, FOG Family Member 1), on chromosome 16. Previous signals near FSHB (Follicle Stimulating Hormone beta subunit) and SMAD3 (SMAD Family Member 3) were also replicated (Mbarek et al., 2016). We also ran the GWAS with a dominance model that identified a further locus ADRB2 on chr 5. These results have been contributed to the International Twinning Genetics Consortium for inclusion in the next GWAS meta-analysis (Mbarek et al., in press).
Methamphetamine and cannabis are two widely used, and frequently co-used, substances with possibly opposing effects on the central nervous system. Evidence of neurocognitive deficits related to use is robust for methamphetamine and mixed for cannabis. Findings regarding their combined use are inconclusive. We aimed to compare neurocognitive performance in people with lifetime cannabis or methamphetamine use disorder diagnoses, or both, relative to people without substance use disorders.
Method:
423 (71.9% male, aged 44.6 ± 14.2 years) participants, stratified by presence or absence of lifetime methamphetamine (M−/M+) and/or cannabis (C−/C+) DSM-IV abuse/dependence, completed a comprehensive neuropsychological, substance use, and psychiatric assessment. Neurocognitive domain T-scores and impairment rates were examined using multiple linear and binomial regression, respectively, controlling for covariates that may impact cognition.
Results:
Globally, M+C+ performed worse than M−C− but better than M+C−. M+C+ outperformed M+C− on measures of verbal fluency, information processing speed, learning, memory, and working memory. M−C+ did not display lower performance than M−C− globally or on any domain measures, and M−C+ even performed better than M−C− on measures of learning, memory, and working memory.
Conclusions:
Our findings are consistent with prior work showing that methamphetamine use confers risk for worse neurocognitive outcomes, and that cannabis use does not appear to exacerbate and may even reduce this risk. People with a history of cannabis use disorders performed similarly to our nonsubstance using comparison group and outperformed them in some domains. These findings warrant further investigation as to whether cannabis use may ameliorate methamphetamine neurotoxicity.
The discussion of narrative in mashups typically involves how a preexisting message is reinterpreted by the incorporation of new musical material. However, many scholars note how DJ Earworm's technique of creating new lyrics through the combination of samples from up to fifty different tracks conveys an original message that is distinct from its borrowed sources. In his various interviews, DJ Earworm elaborates that his mashups are original compositions that act as musical time capsules that capture the zeitgeist of the age. Nevertheless, DJ Earworm only provides brief commentary on the meaning of his mashups and there is no close examination of these narratives in the literature. This raises the question: To what degree do DJ Earworm's mashups reflect cultural issues in American society? By merging Zbikowski's concept of conceptual integration with Almén's theory of musical narrative, this paper will demonstrate how DJ Earworm's mashups show a consistent pattern of having complex narratives with cultural messages that resonate with contemporary issues in American society, including fossil fuel dependence, income inequality, and political and racial division.
Settlement scaling theory predicts that higher site densities lead to increased social interactions that, in turn, boost productivity. The scaling relationship between population and land area holds for several ancient societies, but as demonstrated by the sample of 48 sites in this study, it does not hold for the Northern Maya Lowlands. Removing smaller sites from the sample brings the results closer to scaling expectations. We argue that applications of scaling theory benefit by considering social interaction as a product not only of proximity but also of daily life and spatial layouts.
Today, there is a growing movement to use accumulated archaeological information to contribute to discussions of general issues facing human societies, including our own. In this regard, the archaeological record is most unique and helpful when viewed at broad comparative scales. Most relevant data for these sorts of analyses are collected through the cultural resource management (CRM) process. Still, by and large, interpretation remains limited to individual projects, and data integration across projects is nearly nonexistent. What would it take for CRM to achieve real data integration? In this article, we discuss these issues and suggest one potential solution. The most pressing need we identify is for data products that integrate the primary data emanating from CRM at broad spatial and temporal scales, which are suitable for research by archaeologists and other social scientists. We argue that the time is right for the discipline to invest in organizations that produce such products.
This study describes attitudes towards diversity, equity, and inclusion (DEI) among members of the Clinical and Translational Science Awards (CTSA) Program. It also explores associations between program members’ roles and their perceived importance of and commitment to improving DEI and assesses the link between perceived importance of and commitment to improving DEI. Lastly, it ascertains barriers and priorities concerning health equity research, workforce development, CTSA consortium leadership, and clinical trials participation among respondents.
Methods:
A survey was administered to registrants of the virtual CTSA Program 2020 Fall Meeting. Respondents reported their roles, perceived importance of and commitment to improving DEI. Bivariate cross-tabulations and structural equation modeling examined associations between respondents’ roles, perceived importance of DEI, and commitment to improving DEI. Grounded theory was used to code and analyze open-ended questions.
Results:
Among 796 registrants, 231 individuals completed the survey. DEI was “extremely important” among 72.7 percent of respondents and lowest among UL1 PIs (66.7%). Being “extremely committed” to improving DEI was reported by 56.3 percent of respondents and lowest among “other staff” (49.6%). Perceived importance of DEI was positively associated with commitment to improve DEI. Institutional and CTSA Commitment, Support, and Prioritization of DEI represented a key theme for improving DEI among respondents.
Conclusion:
Clinical and translational science organizations must take bold steps to transform individual perceptions of DEI into commitment and commitment into action. Institutions must set visionary objectives spanning leadership, training, research, and clinical trials research to meet the promise and benefits of a diverse NIH-supported workforce.
The transition from residency to paediatric cardiology fellowship is challenging due to the new knowledge and technical skills required. Online learning can be an effective didactic modality that can be widely accessed by trainees. We sought to evaluate the effectiveness of a paediatric cardiology Fellowship Online Preparatory Course prior to the start of fellowship.
Methods:
The Online Preparatory Course contained 18 online learning modules covering basic concepts in anatomy, auscultation, echocardiography, catheterisation, cardiovascular intensive care, electrophysiology, pulmonary hypertension, heart failure, and cardiac surgery. Each online learning module included an instructional video with pre-and post-video tests. Participants completed pre- and post-Online Preparatory Course knowledge-based exams and surveys. Pre- and post-Online Preparatory Course survey and knowledge-based examination results were compared via Wilcoxon sign and paired t-tests.
Results:
151 incoming paediatric cardiology fellows from programmes across the USA participated in the 3 months prior to starting fellowship training between 2017 and 2019. There was significant improvement between pre- and post-video test scores for all 18 online learning modules. There was also significant improvement between pre- and post-Online Preparatory Course exam scores (PRE 43.6 ± 11% versus POST 60.3 ± 10%, p < 0.001). Comparing pre- and post-Online Preparatory Course surveys, there was a statistically significant improvement in the participants’ comfort level in 35 of 36 (97%) assessment areas. Nearly all participants (98%) agreed or strongly agreed that the Online Preparatory Course was a valuable learning experience and helped alleviate some anxieties (77% agreed or strongly agreed) related to starting fellowship.
Conclusion:
An Online Preparatory Course prior to starting fellowship can provide a foundation of knowledge, decrease anxiety, and serve as an effective educational springboard for paediatric cardiology fellows.
An ever-expanding annotation of the human genome sequence continues to promise a new era of precision medicine. Advances in knowledge management and the ability to leverage genetic information to make clinically relevant, predictive, diagnostic, and targeted therapeutic choices offer the ability to improve patient outcomes and reduce the overall cost of healthcare. However, numerous barriers have resulted in a modest start to the clinical use of genetics at scale. Examples of successful deployments include oncologic disease treatment with targeted prescribing; however, even in these cases, genome-informed decision-making has yet to achieve standard of care in most major healthcare systems. In the last two decades, advances in genetic testing, therapeutic coverage, and clinical decision support have resulted in early-stage adoption of pharmacogenomics – the use of genetic information to routinely determine the safety and efficacy profile of specific medications for individuals. Here, through their complicated histories, we review the current state of pharmacogenomic testing technologies, the information tools that can unlock clinical utility, and value-driving implementation strategies that represent the future of pharmacogenomics-enabled healthcare decision-making. We conclude with real-world economic and clinical outcomes from a full-scale deployment and ultimately provide insight into potential tipping points for global adoption, including recent lessons from the rapid scale-up of high-volume test delivery during the global SARS-CoV2 epidemic.
Background: Despite a higher prevalence of traumatic spinal cord injury (TSCI) amongst Canadian Indigenous peoples, there is a paucity of studies focused on Indigenous TSCI. We present the first Canada-wide study comparing TSCI amongst Canadian Indigenous and non-Indigenous peoples. Methods: This study is a retrospective analysis of prospectively-collected TSCI data from the Rick Hansen Spinal Cord Injury Registry (RHSCIR) from 2004-2019. We divided participants into Indigenous and non-Indigenous cohorts and compared them with respect to demographics, injury mechanism, level, severity, and outcomes. Results: Compared with non-Indigenous patients, Indigenous patients were younger, more female, less likely to have higher education, and less likely to be employed. The mechanism of injury was more likely due to assault or transportation-related trauma in the Indigenous group. The length of stay for Indigenous patients was longer. Indigenous patients were more likely to be discharged to a rural setting, less likely to be discharged home, and more likely to be unemployed following injury. Conclusions: Our results suggest that more resources need to be dedicated for transitioning Indigenous patients sustaining a TSCI to community living and for supporting these patients in their home communities. A focus on resources and infrastructure for Indigenous patients by engagement with Indigenous communities is needed.
The goal of disaster triage at both the prehospital and in-hospital level is to maximize resources and optimize patient outcomes. Of the disaster-specific triage methods developed to guide health care providers, the Simple Triage and Rapid Treatment (START) algorithm has become the most popular system world-wide. Despite its appeal and global application, the accuracy and effectiveness of the START protocol is not well-known.
Objectives:
The purpose of this meta-analysis was two-fold: (1) to estimate overall accuracy, under-triage, and over-triage of the START method when used by providers across a variety of backgrounds; and (2) to obtain specific accuracy for each of the four START categories: red, yellow, green, and black.
Methods:
A systematic review and meta-analysis was conducted that searched Medline (OVID), Embase (OVID), Global Health (OVID), CINAHL (EBSCO), Compendex (Engineering Village), SCOPUS, ProQuest Dissertations and Theses Global, Cochrane Library, and PROSPERO. The results were expanded by hand searching of journals, reference lists, and the grey literature. The search was executed in March 2020. The review considered the participants, interventions, context, and outcome (PICO) framework and followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Accuracy outcomes are presented as means with 95% confidence intervals (CI) as calculated using the binomial method. Pooled meta-analyses of accuracy outcomes using fixed and random effects models were calculated and the heterogeneity was assessed using the Q statistic.
Results:
Thirty-two studies were included in the review, most of which utilized a non-randomized study design (84%). Proportion of victims correctly triaged using START ranged from 0.27 to 0.99 with an overall triage accuracy of 0.73 (95% CI, 0.67 to 0.78). Proportion of over-triage was 0.14 (95% CI, 0.11 to 0.17) while the proportion of under-triage was 0.10 (95% CI, 0.072 to 0.14). There was significant heterogeneity of the studies for all outcomes (P < .0001).
Conclusion:
This meta-analysis suggests that START is not accurate enough to serve as a reliable disaster triage tool. Although the accuracy of START may be similar to other models of disaster triage, development of a more accurate triage method should be urgently pursued.
To describe the cumulative seroprevalence of severe acute respiratory coronavirus virus 2 (SARS-CoV-2) antibodies during the coronavirus disease 2019 (COVID-19) pandemic among employees of a large pediatric healthcare system.
Design, setting, and participants:
Prospective observational cohort study open to adult employees at the Children’s Hospital of Philadelphia, conducted April 20–December 17, 2020.
Methods:
Employees were recruited starting with high-risk exposure groups, utilizing e-mails, flyers, and announcements at virtual town hall meetings. At baseline, 1 month, 2 months, and 6 months, participants reported occupational and community exposures and gave a blood sample for SARS-CoV-2 antibody measurement by enzyme-linked immunosorbent assays (ELISAs). A post hoc Cox proportional hazards regression model was performed to identify factors associated with increased risk for seropositivity.
Results:
In total, 1,740 employees were enrolled. At 6 months, the cumulative seroprevalence was 5.3%, which was below estimated community point seroprevalence. Seroprevalence was 5.8% among employees who provided direct care and was 3.4% among employees who did not perform direct patient care. Most participants who were seropositive at baseline remained positive at follow-up assessments. In a post hoc analysis, direct patient care (hazard ratio [HR], 1.95; 95% confidence interval [CI], 1.03–3.68), Black race (HR, 2.70; 95% CI, 1.24–5.87), and exposure to a confirmed case in a nonhealthcare setting (HR, 4.32; 95% CI, 2.71–6.88) were associated with statistically significant increased risk for seropositivity.
Conclusions:
Employee SARS-CoV-2 seroprevalence rates remained below the point-prevalence rates of the surrounding community. Provision of direct patient care, Black race, and exposure to a confirmed case in a nonhealthcare setting conferred increased risk. These data can inform occupational protection measures to maximize protection of employees within the workplace during future COVID-19 waves or other epidemics.
OBJECTIVES/GOALS: Epilepsy with myoclonic-atonic seizures (EMAS) is a childhood onset epilepsy disorder characterized by seizures with sudden loss of posture, or drop seizures. Our objective was to use short-read genome sequencing in 40 EMAS trios to better understand variants contributing to the development of EMAS. METHODS/STUDY POPULATION: Eligibility for the cohort included a potential diagnosis of EMAS by child neurology faculty at Children’s Hospital Colorado. Exclusion criteria included lack of drop seizures upon chart review or structural abnormality on MRI. Some individuals had prior genetic testing and priority for genome sequencing was given to individuals without clear genetic diagnosis based on previous testing. We analyzed single nucleotide variants (SNVs), small insertions and deletions (INDELs), and larger structural variants (SVs) from trio genomes and determined those that were likely contributory based on standardized American College of Medical Genetics (ACMG) criteria. RESULTS/ANTICIPATED RESULTS: Our initial analysis focused on variants in coding regions of known epilepsy-associated genes. We identified pathogenic or likely pathogenic variants in 6 different individuals involving 6 unique genes. Of these, 5 are de novo SNVs or INDELs and 1 is a de novo SV. One of these involve a de novo heterozygous variant in an X-linked gene (ARHGEF9) in a female individual. We hypothesize the skewed X-inactivation may result in primarily expression of the pathogenic variant. We anticipate identifying additional candidate variants in coding regions of genes previously not associated with EMAS or pediatric epilepsies as well as in noncoding regions of the genome. DISCUSSION/SIGNIFICANCE OF IMPACT: Despite the genetic heterogeneity of EMAS, our initial analysis identified de novo pathogenic or likely pathogenic variants in 15% (6/40) of our cohort. As the cost continues to decline, short read genome sequencing represents a promising diagnostic tool for EMAS and other pediatric onset epilepsy syndromes. CONFLICT OF INTEREST DESCRIPTION: The authors have no conflicts of interest to disclose. SD has consulted for Upsher-Smith, Biomarin and Neurogene on an unrelated subject matter. GLC holds a research collaborative grant with Stoke therapeutics on unrelated subject matter.
The COVID-19 pandemic has created a high demand on personal protective equipment, including disposable N95 masks. Given the need for mask reuse, we tested the feasibility of vaporized hydrogen peroxide (VHP), ultraviolet light (UV), and ethanol decontamination strategies on N95 mask integrity and the ability to remove the infectious potential of SARS-CoV-2.
Methods:
Disposable N95 masks, including medical grade (1860, 1870+) and industrial grade (8511) masks, were treated by VHP, UV, and ethanol decontamination. Mask degradation was tested using a quantitative respirator fit testing. Pooled clinical samples of SARS-CoV-2 were applied to mask samples, treated, and then either sent immediately for real-time reverse transcriptase–polymerase chain reaction (RT-PCR) or incubated with Vero E6 cells to assess for virucidal effect.
Results:
Both ethanol and UV decontamination showed functional degradation to different degrees while VHP treatment showed no significant change after two treatments. We also report a single SARS-CoV-2 virucidal experiment using Vero E6 cell infection in which only ethanol treatment eliminated detectable SARS-CoV-2 RNA.
Conclusions:
We hope our data will guide further research for evidenced-based decisions for disposable N95 mask reuse and help protect caregivers from SARS-CoV-2 and other pathogens.