The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.

Digital solutions are needed to support rapid increases in the application of genetic/genomic tests (GTs) in diverse clinical settings and patient populations. We developed GUÍA, a bilingual digital application that facilitates disclosure of GT results. The NYCKidSeq randomized controlled trial enrolled diverse children with neurologic, cardiac, and immunologic conditions who underwent GTs. The trial evaluated GUÍA's impact on understanding the GT results by randomizing families to results disclosure genetic counseling with GUÍA (intervention) or standard of care (SOC). Parents/legal guardians (participants) completed surveys at baseline, post-results disclosure, and 6 months later. Survey measures assessed the primary study outcomes of participants' perceived understanding of and confidence in explaining their child's GT results and the secondary outcome of objective understanding. The analysis included 551 diverse participants, 270 in the GUÍA arm and 281 in SOC. Participants in the GUÍA arm had significantly higher perceived understanding post-results (OR = 2.8, CI[1.004, 7.617], p = 0.049) and maintained higher objective understanding over time (OR = 1.1, CI[1.004, 1.127], p = 0.038) compared to SOC. There was no impact on perceived confidence. Hispanic/Latino(a) individuals in the GUÍA arm maintained higher perceived understanding (OR = 3.9, CI[1.603, 9.254], p = 0.003), confidence (OR = 2.7, CI[1.021, 7.277], p = 0.046), and objective understanding (OR = 1.1, CI[1.009, 1.212], p = 0.032) compared to SOC. This trial demonstrates that GUÍA positively impacts understanding of GT results in diverse parents of children with suspected genetic conditions and builds a case for utilizing GUÍA to deliver complex results. Continued development and evaluation of digital applications in diverse populations are critical for equitably scaling GT offerings in specialty clinics.

Factors Associated With Recurrent Pediatric Firearm Injury : A 10-Year Retrospective Cohort Analysis.

BACKGROUND: Firearm injuries are the leading cause of death among children aged 0 to 17 years in the United States. OBJECTIVE: To examine the factors associated with recurrent firearm injury among children who presented with acute (index) nonfatal firearm injury in the St. Louis region. DESIGN: Multicenter, observational, cohort study. SETTING: 2 adult and 2 pediatric level I trauma hospitals in St. Louis, Missouri. PARTICIPANTS: Pediatric patients aged 0 to 17 years presenting with an index firearm injury between 2010 and 2019. MEASUREMENTS: From the St. Louis Region-Wide Hospital-Based Violence Intervention Program Data Repository, we collected data on firearm-injured patient demographics, hospital and diagnostic information, health insurance status, and mortality. The Social Vulnerability Index was used to characterize the social vulnerability of the census tracts of patients' residences. Analysis included descriptive statistics and time-to-event analyses estimating the cumulative incidence of experiencing a recurrent firearm injury. RESULTS: During the 10-year study period, 1340 children presented with an index firearm injury. Most patients were Black (87%), non-Hispanic (99%), male (84%), and between the ages of 15 and 17 years (67%). The estimated risk for firearm reinjury was 6% at 1 year and 14% at 5 years after initial injury. Male children and those seen at an adult hospital were at increased risk for reinjury. LIMITATION: Our data set does not account for injuries occurring outside of the study period and for reinjuries presenting to nonstudy hospitals. CONCLUSION: Children who experience an initial firearm injury are at high risk for experiencing a recurrent firearm injury. Interventions are needed to reduce reinjury and address inequities in the demographic and clinical profiles within this cohort of children. PRIMARY FUNDING SOURCE: National Institutes of Health.

Self-Rated Health in Middle Age and Risk of Hospitalizations and Death: Recurrent Event Analysis of the ARIC Study.

BACKGROUND: Self-rated health is a simple measure that may identify individuals who are at a higher risk for hospitalization or death. OBJECTIVE: To quantify the association between a single measure of self-rated health and future risk of recurrent hospitalizations or death. PARTICIPANTS: Atherosclerosis Risk in Communities (ARIC) study, a community-based prospective cohort study of middle-aged men and women with follow-up beginning from 1987 to 1989. MAIN MEASURES: We quantified the associations between initial self-rated health with risk of recurrent hospitalizations and of death using a recurrent events survival model that allowed for dependency between the rates of hospitalization and hazards of death, adjusted for demographic and clinical factors. KEY RESULTS: Of the 14,937 ARIC cohort individuals with available self-rated health and covariate information, 34% of individuals reported "excellent" health, 47% "good," 16% "fair," and 3% "poor" at study baseline. After a median follow-up of 27.7 years, 1955 (39%), 3569 (51%), 1626 (67%), and 402 (83%) individuals with "excellent," "good," "fair," and "poor" health, respectively, had died. After adjusting for demographic factors and medical history, a less favorable self-rated health status was associated with increased rates of hospitalization and death. As compared to those reporting "excellent" health, adults with "good," "fair," and "poor" health had 1.22 (1.07 to 1.40), 2.01 (1.63 to 2.47), and 3.13 (2.39 to 4.09) times the rate of hospitalizations, respectively. The hazards of death also increased with worsening categories of self-rated health, with "good," "fair," and "poor" health individuals experiencing 1.30 (1.12 to 1.51), 2.15 (1.71 to 2.69), and 3.40 (2.54 to 4.56) times the hazard of death compared to "excellent," respectively. CONCLUSIONS: Even after adjusting for demographic and clinical factors, having a less favorable response on a single measure of self-rated health taken in middle age is a potent marker of future hospitalizations and death.

Cardiovascular health assessment in routine cancer follow-up in community settings: survivor risk awareness and perspectives.

BACKGROUND: Guidelines recommend cardiovascular risk assessment and counseling for cancer survivors. For effective implementation, it is critical to understand survivor cardiovascular health (CVH) profiles and perspectives in community settings. We aimed to (1) Assess survivor CVH profiles, (2) compare self-reported and EHR-based categorization of CVH factors, and (3) describe perceptions regarding addressing CVH during oncology encounters. METHODS: This cross-sectional analysis utilized data from an ongoing NCI Community Oncology Research Program trial of an EHR heart health tool for cancer survivors (WF-1804CD). Survivors presenting for routine care after potentially curative treatment recruited from 8 oncology practices completed a pre-visit survey, including American Heart Association Simple 7 CVH factors (classified as ideal, intermediate, or poor). Medical record abstraction ascertained CVD risk factors and cancer characteristics. Likert-type questions assessed desired discussion during oncology care. RESULTS: Of 502 enrolled survivors (95.6% female; mean time since diagnosis = 4.2 years), most had breast cancer (79.7%). Many survivors had common cardiovascular comorbidities, including high cholesterol (48.3%), hypertension or high BP (47.8%) obesity (33.1%), and diabetes (20.5%); 30.5% of survivors received high cardiotoxicity potential cancer treatment. Less than half had ideal/non-missing levels for physical activity (48.0%), BMI (18.9%), cholesterol (17.9%), blood pressure (14.1%), healthy diet (11.0%), and glucose/ HbA1c (6.0%). While > 50% of survivors had concordant EHR-self-report categorization for smoking, BMI, and blood pressure; cholesterol, glucose, and A1C were unknown by survivors and/or missing in the EHR for most. Most survivors agreed oncology providers should talk about heart health (78.9%). CONCLUSIONS: Tools to promote CVH discussion can fill gaps in CVH knowledge and are likely to be well-received by survivors in community settings. TRIAL REGISTRATION: NCT03935282, Registered 10/01/2020.

Therapist-guided remote versus in-person cognitive behavioural therapy: a systematic review and meta-analysis of randomized controlled trials.

BACKGROUND: Cognitive behavioural therapy (CBT) has been shown to be effective for several psychiatric and somatic conditions; however, most randomized controlled trials (RCTs) have administered treatment in person and whether remote delivery is similarly effective remains uncertain. We sought to compare the effectiveness of therapist-guided remote CBT and in-person CBT. METHODS: We systematically searched MEDLINE, Embase, PsycINFO, CINAHL, and the Cochrane Central Register of Controlled Trials from inception to July 4, 2023, for RCTs that enrolled adults (aged ≥ 18 yr) presenting with any clinical condition and that randomized participants to either therapist-guided remote CBT (e.g., teleconference, videoconference) or in-person CBT. Paired reviewers assessed risk of bias and extracted data independently and in duplicate. We performed random-effects model meta-analyses to pool patient-important primary outcomes across eligible RCTs as standardized mean differences (SMDs). We used Grading of Recommendations Assessment, Development and Evaluation (GRADE) guidance to assess the certainty of evidence and used the Instrument to Assess the Credibility of Effect Modification Analyses (ICEMAN) to rate the credibility of subgroup effects. RESULTS: We included 54 RCTs that enrolled a total of 5463 patients. Seventeen studies focused on treatment of anxiety and related disorders, 14 on depressive symptoms, 7 on insomnia, 6 on chronic pain or fatigue syndromes, 5 on body image or eating disorders, 3 on tinnitus, 1 on alcohol use disorder, and 1 on mood and anxiety disorders. Moderate-certainty evidence showed little to no difference in the effectiveness of therapist-guided remote and in-person CBT on primary outcomes (SMD -0.02, 95% confidence interval -0.12 to 0.07). INTERPRETATION: Moderate-certainty evidence showed little to no difference in the effectiveness of in-person and therapist-guided remote CBT across a range of mental health and somatic disorders, suggesting potential for the use of therapist-guided remote CBT to facilitate greater access to evidence-based care. Systematic review registration: Open Science Framework (https://osf.io/7asrc).

A Rapid Access Brief Psychotherapy Intervention to Respond to Healthcare Workers in Ontario Whose Mental Health was Negatively Impacted During the COVID-19 Pandemic.

OBJECTIVE: Although the coronavirus disease 2019 (COVID-19) pandemic has had widespread negative impacts on the mental health of healthcare workers (HCWs), there has been little research on psychological interventions during the pandemic for this population. The current study examines whether a brief coping-focused treatment intervention delivered in a virtual individual format would be associated with positive changes in Canadian HCWs' mental health during the pandemic. METHOD: Three hundred and thirty-three HCWs receiving the intervention at 3 large specialty tertiary care hospitals in Ontario, Canada, completed measures of anxiety, depression, perceived stress, work/social impairment, insomnia and fear of COVID-19. After completing treatment, HCWs rated their satisfaction with the treatment. RESULTS: The intervention was associated with large effect size improvements in anxiety, depression, perceived stress, insomnia and fear of COVID-19, and moderate effect size improvements in work/social impairment. At treatment session 1, prior mental health diagnosis and treatment were both significantly correlated with depression, anxiety, and work/social impairment scores. Secondary analyses of data from one of the sites revealed that treatment-related changes in anxiety, depression, perceived stress and work/social impairment were independent of age, gender, occupational setting, profession and the presence of a previous mental health diagnosis or treatment, with the exception that nurses improved at a slightly greater rate than other professions in terms of work/social impairment. HCWs were highly satisfied with the treatment. CONCLUSIONS: A large number of HCWs experiencing significant distress at baseline self-referred for assistance. Timely and flexible access to a brief virtual coping-focused intervention was associated with improvements in symptoms and impairment, and treatment response was largely unrelated to demographic or professional characteristics. Short-term psychological interventions for HCWs during a pandemic may have a highly positive impact given their association with improvement in various aspects of HCWs' mental health improvement.

Incidence of and Factors Associated With Recurrent Firearm Injury Among Patients Presenting to St. Louis Trauma Centers, 2010 to 2019 : A Cohort Study.

BACKGROUND: Firearm injuries are a public health crisis in the United States. OBJECTIVE: To examine the incidence and factors associated with recurrent firearm injuries and death among patients presenting with an acute (index), nonfatal firearm injury. DESIGN: Multicenter, observational, cohort study. SETTING: Four adult and pediatric level I trauma hospitals in St. Louis, Missouri, 2010 to 2019. PARTICIPANTS: Consecutive adult and pediatric patients (n = 9553) presenting to a participating hospital with a nonfatal acute firearm injury. MEASUREMENTS: Data on firearm-injured patient demographics, hospital and diagnostic information, health insurance status, and death were collected from the St. Louis Region-Wide Hospital-Based Violence Intervention Program Data Repository. The Centers for Disease Control and Prevention (CDC) Social Vulnerability Index was used to characterize the social vulnerability of the census tracts of patients' residences. Analysis included descriptive statistics and time-to-event analyses estimating the probability of experiencing a recurrent firearm injury. RESULTS: We identified 10 293 acutely firearm-injured patients of whom 9553 survived the injury and comprised the analytic sample. Over a median follow-up of 3.5 years (IQR, 1.5 to 6.4 years), 1155 patients experienced a recurrent firearm injury including 5 firearm suicides and 149 fatal firearm injuries. Persons experiencing recurrent firearm injury were young (25.3 ± 9.5 years), predominantly male (93%), Black (96%), and uninsured (50%), and resided in high social vulnerability regions (65%). The estimated risk for firearm reinjury was 7% at 1 year and 17% at 8 years. LIMITATIONS: Limited data on comorbidities and patient-level social determinants of health. Inability to account for recurrent injuries presenting to nonstudy hospitals. CONCLUSION: Recurrent injury and death are frequent among survivors of firearm injury, particularly among patients from socially vulnerable areas. Our findings highlight the need for interventions to prevent recurrence. PRIMARY FUNDING SOURCE: Emergency Medicine Foundation-AFFIRM and Missouri Foundation for Health.

Neurocognitive effects of transcranial direct current stimulation in obsessive-compulsive disorder: a systematic review.

Transcranial direct current stimulation (tDCS) has been used with increasing frequency as a therapeutic tool to alleviate clinical symptoms of obsessive compulsive-disorder (OCD). However, little is known about the effects of tDCS on neurocognitive functioning among OCD patients. The aim of this review was to provide a comprehensive overview of the literature examining the effects of tDCS on specific neurocognitive functions in OCD. A literature search following PRISMA guidelines was conducted on the following databases: PubMed, PsycINFO, Embase, the Cochrane Central Register of Controlled Trials (CENTRAL), the Cumulative Index to Nursing and Allied Health Literature (CINAHL), and Web of Science. The search yielded 4 results: one randomized, sham-controlled study (20 patients), one randomized, controlled, partial crossover trial (12 patients), one open-label study (5 patients), and one randomized, double-blind, sham-controlled, parallel-group trial (37 patients). A total of 51 patients received active tDCS with some diversity in electrode montages targeting the dorsolateral prefrontal cortex, the pre-supplementary motor area, or the orbitofrontal cortex. tDCS was associated with improved decision-making in study 1, enhanced attentional monitoring and response inhibition in study 2, improved executive and inhibitory control in study 3, and reduced attentional bias and improved response inhibition and working memory in study 4. Limitations of this review include its small sample, the absence of a sham group in half of the studies, and the heterogeneity in tDCS parameters. These preliminary results highlight the need for future testing in randomized, sham-controlled trials to examine whether and how tDCS induces relevant cognitive benefits in OCD.

Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic.

Introduction: The 2019 Coronavirus Disease (COVID-19) pandemic necessitated a mass transition in genetics clinics nationwide from in-person care to virtual care through telehealth. Before the COVID-19 pandemic, there was limited research on the use of telehealth in genetics specialties. Therefore, the COVID-19 pandemic presented a unique opportunity to study this emerging mode of care delivery in the setting of genetics clinics. This study described the scope of telehealth use in genetics clinics nationally and determined how COVID-19 influenced patients' decisions regarding their genetic care. Methods: Two anonymous surveys for patients and providers were developed. The patient survey was offered online to all genetics patients seen through telehealth at a Manhattan-based practice between March and December 2020. The provider survey was distributed through several listservs to genetics providers nationwide. Results: Patients (n = 242) and providers (n = 150) responded. Telehealth was used in all specialty genetics clinics for both initial and follow-up visits. Telehealth was both effective and satisfactory to patients for both visit types and across specialties; however, Asian and Hispanic/Latino patients had significantly lower mean satisfaction scores compared with White patients (p = 0.03 and 0.04, respectively). Patients appreciated telehealth for its convenience and to avoid COVID-19 exposure. Providers across specialties and provider types preferred telehealth for follow-up rather than initial visits. Several clinic initiatives related to telehealth were identified. Discussion: Telehealth was generally well received by both patients and providers, and is expected to become permanent option in genetics clinics. Further studies are needed to identify barriers to accessing telehealth.

Changes in harm avoidance and incompleteness across group CBT for OCD and their relationship with symptom change.

BACKGROUND: Obsessive-compulsive disorder (OCD) symptoms are hypothesized to be driven by two core motivations: harm avoidance and incompleteness. While cognitive-behavioural therapy (CBT) is an effective treatment for OCD, many posit that OCD presentations characterized by high incompleteness may be harder to treat. The relationship between the core motivations and treatment outcomes remains to be further explored. AIMS: To investigate if harm avoidance and incompleteness decrease across group CBT and to examine the relationship between treatment outcomes and both baseline and changes in harm avoidance and incompleteness throughout treatment. METHOD: A naturalistic sample of 65 adult out-patients with OCD completed self-report questionnaires measuring OCD symptom severity and the core motivations before, during, and after 12 weeks of group CBT for OCD. RESULTS: Harm avoidance and incompleteness scores significantly decreased from pre- to post-treatment. Pre-treatment harm avoidance and incompleteness levels did not predict post-treatment symptom severity, but changes in the core motivations throughout treatment were significant predictors of treatment outcome. Specifically, reductions in harm avoidance across treatment and reductions in incompleteness early in treatment, were associated with better treatment outcomes. CONCLUSIONS: Participants who completed group CBT for OCD experienced modest reductions in the core motivations thought to maintain OCD symptoms and these changes predicted better outcomes. However, pre-treatment levels of harm avoidance and incompleteness do not appear to moderate treatment outcome.

Life's Essential 8: Updating and Enhancing the American Heart Association's Construct of Cardiovascular Health: A Presidential Advisory From the American Heart Association.

In 2010, the American Heart Association defined a novel construct of cardiovascular health to promote a paradigm shift from a focus solely on disease treatment to one inclusive of positive health promotion and preservation across the life course in populations and individuals. Extensive subsequent evidence has provided insights into strengths and limitations of the original approach to defining and quantifying cardiovascular health. In response, the American Heart Association convened a writing group to recommend enhancements and updates. The definition and quantification of each of the original metrics (Life's Simple 7) were evaluated for responsiveness to interindividual variation and intraindividual change. New metrics were considered, and the age spectrum was expanded to include the entire life course. The foundational contexts of social determinants of health and psychological health were addressed as crucial factors in optimizing and preserving cardiovascular health. This presidential advisory introduces an enhanced approach to assessing cardiovascular health: Life's Essential 8. The components of Life's Essential 8 include diet (updated), physical activity, nicotine exposure (updated), sleep health (new), body mass index, blood lipids (updated), blood glucose (updated), and blood pressure. Each metric has a new scoring algorithm ranging from 0 to 100 points, allowing generation of a new composite cardiovascular health score (the unweighted average of all components) that also varies from 0 to 100 points. Methods for implementing cardiovascular health assessment and longitudinal monitoring are discussed, as are potential data sources and tools to promote widespread adoption in policy, public health, clinical, institutional, and community settings.

Status of Cardiovascular Health in US Adults and Children Using the American Heart Association's New "Life's Essential 8" Metrics: Prevalence Estimates From the National Health and Nutrition Examination Survey (NHANES), 2013 Through 2018.

BACKGROUND: The American Heart Association recently published an updated algorithm for quantifying cardiovascular health (CVH)-the Life's Essential 8 score. We quantified US levels of CVH using the new score. METHODS: We included individuals ages 2 through 79 years (not pregnant or institutionalized) who were free of cardiovascular disease from the National Health and Nutrition Examination Surveys in 2013 through 2018. For all participants, we calculated the overall CVH score (range, 0 [lowest] to 100 [highest]), as well as the score for each component of diet, physical activity, nicotine exposure, sleep duration, body mass index, blood lipids, blood glucose, and blood pressure, using published American Heart Association definitions. Sample weights and design were incorporated in calculating prevalence estimates and standard errors using standard survey procedures. CVH scores were assessed across strata of age, sex, race and ethnicity, family income, and depression. RESULTS: There were 23 409 participants, representing 201 728 000 adults and 74 435 000 children. The overall mean CVH score was 64.7 (95% CI, 63.9-65.6) among adults using all 8 metrics and 65.5 (95% CI, 64.4-66.6) for the 3 metrics available (diet, physical activity, and body mass index) among children and adolescents ages 2 through 19 years. For adults, there were significant differences in mean overall CVH scores by sex (women, 67.0; men, 62.5), age (range of mean values, 62.2-68.7), and racial and ethnic group (range, 59.7-68.5). Mean scores were lowest for diet, physical activity, and body mass index metrics. There were large differences in mean scores across demographic groups for diet (range, 23.8-47.7), nicotine exposure (range, 63.1-85.0), blood glucose (range, 65.7-88.1), and blood pressure (range, 49.5-84.0). In children, diet scores were low (mean 40.6) and were progressively lower in higher age groups (from 61.1 at ages 2 through 5 to 28.5 at ages 12 through 19); large differences were also noted in mean physical activity (range, 63.1-88.3) and body mass index (range, 74.4-89.4) scores by sociodemographic group. CONCLUSIONS: The new Life's Essential 8 score helps identify large group and individual differences in CVH. Overall CVH in the US population remains well below optimal levels and there are both broad and targeted opportunities to monitor, preserve, and improve CVH across the life course in individuals and the population.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

PURPOSE: Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions. METHODS: Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing. Diagnostic yield was compared using a fully paired study design. RESULTS: A total of 645 probands (median age 9 years) underwent genetic testing, and 113 (17.5%) received a molecular diagnosis. Among 642 probands with both GS and TGP testing, GS yielded 106 (16.5%) and TGPs yielded 52 (8.1%) diagnoses (P < .001). Yield was greater for GS vs TGPs in Hispanic/Latino(a) (17.2% vs 9.5%, P < .001) and White/European American (19.8% vs 7.9%, P < .001) but not in Black/African American (11.5% vs 7.7%, P = .22) population groups by self-report. A higher rate of inconclusive results was seen in the Black/African American (63.8%) vs White/European American (47.6%; P = .01) population group. Most causal copy number variants (17 of 19) and mosaic variants (6 of 8) were detected only by GS. CONCLUSION: GS may yield up to twice as many diagnoses in pediatric patients compared with TGP testing but not yet across all population groups.

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.

Copy number variations (CNVs) play a significant role in human disease. While chromosomal microarray has traditionally been the first-tier test for CNV detection, use of genome sequencing (GS) is increasing. We report the frequency of CNVs detected with GS in a diverse pediatric cohort from the NYCKidSeq program and highlight specific examples of its clinical impact. A total of 1052 children (0-21 years) with neurodevelopmental, cardiac, and/or immunodeficiency phenotypes received GS. Phenotype-driven analysis was used, resulting in 183 (17.4%) participants with a diagnostic result. CNVs accounted for 20.2% of participants with a diagnostic result (37/183) and ranged from 0.5 kb to 16 Mb. Of participants with a diagnostic result (n = 183) and phenotypes in more than one category, 5/17 (29.4%) were solved by a CNV finding, suggesting a high prevalence of diagnostic CNVs in participants with complex phenotypes. Thirteen participants with a diagnostic CNV (35.1%) had previously uninformative genetic testing, of which nine included a chromosomal microarray. This study demonstrates the benefits of GS for reliable detection of CNVs in a pediatric cohort with variable phenotypes.

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS) and/or targeted gene panels (TGPs) were considered to be causative for the proband's phenotype, and two of apparent parental mosaicism. Variants were identified in the following genes: PHACTR1, SCN8A, KCNT1, CDKL5, NEXMIF, CUX1, TSC2, GABRB2, and SMARCB1. In addition, we identified one large duplication including three genes, UBE3A, GABRB3, and MAGEL2, and one large deletion including deletion of ARFGAP1, EEF1A2, CHRNA4, and KCNQ2. All patients were enrolled in the NYCKidSeq study, a research program studying the communication of genomic information in clinical care, as well as the clinical utility and diagnostic yield of GS for children with suspected genetic disorders in diverse populations in New York City. We observed variability in the correlation between reported variant allele fraction and the severity of the patient's phenotype, although we were not able to determine the mosaicism percentage in clinically relevant tissue(s). Although our study was not sufficiently powered to assess differences in mosaicism detection between the two testing modalities, we saw a trend toward better detection by GS as compared with TGP testing. This case series supports the importance of mosaicism in childhood-onset genetic conditions and informs guidelines for laboratory and clinical interpretation of mosaic variants detected by GS.

Endometrial cancer survivors' perceptions of their cardiovascular disease risk (results from WF-1804CD AH-HA).

OBJECTIVE: Despite considerable burden of cardiovascular disease (CVD), data on endometrial cancer survivors' CVD perceptions are lacking. We assessed survivors' perspectives on addressing CVD risk during oncology care. METHODS: This cross-sectional analysis utilized data from an ongoing trial of an EHR heart health tool (R01CA226078 & UG1CA189824) conducted through the NCI Community Oncology Research Program (NCORP, WF-1804CD). Endometrial cancer survivors post-potentially curative treatment were recruited from community practices and completed a pre-visit baseline survey, including American Heart Association Simple 7 CVD factors. Likert-type questions assessed confidence in understanding CVD risk, CVD risk perception, and desired discussion during oncology care. Medical record abstraction ascertained data on CVD and cancer characteristics. RESULTS: Survivors (N = 55, median age = 62; 62% 0-2 years post-diagnosis) were predominately white, non-Hispanic (87%). Most agreed/strongly agreed heart disease poses a risk to their health (87%) and oncology providers should talk to patients about heart health (76%). Few survivors reported smoking (12%) but many had poor/intermediate values for blood pressure (95%), body mass index (93%), fasting glucose/A1c (60%), diet (60%), exercise (47%) and total cholesterol (53%). 16% had not seen a PCP in the last year; these survivors were more likely to report financial hardship (22% vs 0%; p = 0.02). Most reported readiness to take steps to maintain or improve heart health (84%). CONCLUSIONS: Discussions of CVD risk during routine oncology care are likely to be well received by endometrial cancer survivors. Strategies are needed to implement CVD risk assessment guidelines and to enhance communication and referrals with primary care. Clinical Trials #: NCT03935282.

A systematic review of recurrent firearm injury rates in the United States.

OBJECTIVES: To conduct a systematic review of methodologies, data sources, and best practices for identifying, calculating, and reporting recurrent firearm injury rates in the United States. METHODS: In accordance with PRISMA guidelines, we searched seven electronic databases on December 16, 2021, for peer-reviewed articles that calculated recurrent firearm injury in generalizable populations. Two reviewers independently assessed the risk of bias, screened the studies, extracted data, and a third resolved conflicts. FINDINGS: Of the 918 unique articles identified, 14 met our inclusion criteria and reported recurrent firearm injury rates from 1% to 9.5%. We observed heterogeneity in study methodologies, including data sources utilized, identification of subsequent injury, follow-up times, and the types of firearm injuries studied. Data sources ranged from single-site hospital medical records to comprehensive statewide records comprising medical, law enforcement, and social security death index data. Some studies applied machine learning to electronic health records to differentiate subsequent new firearm injuries from the index injury, while others classified all repeat firearm-related hospital admissions after variably defined cut-off times as a new injury. Some studies required a minimum follow-up observation period after the index injury while others did not. Four studies conducted survival analyses, albeit using different methodologies. CONCLUSIONS: Variability in both the data sources and methods used to evaluate and report recurrent firearm injury limits individual study generalizability of individual and societal factors that influence recurrent firearm injury. Our systematic review highlights the need for development, dissemination, and implementation of standard practices for calculating and reporting recurrent firearm injury.

The impact of particular safety behaviours on perceived likeability and authenticity during interpersonal interactions in social anxiety disorder.

BACKGROUND: Safety behaviours are hypothesized to play a vital role in maintaining social anxiety disorder (SAD), in part by orienting socially anxious individuals to adopt an avoidance-based mindset focused on self-protection and self-concealment. Evidence suggests an association between safety behaviour use and negative social outcomes for individuals with SAD. However, research has largely focused on the broad group of safety behaviours, whereas specific subtypes have received less attention. AIM: The present study aimed to further our understanding of the negative interpersonal consequences of specific types of safety behaviours for individuals with SAD by examining whether active, inhibiting/restricting, or physical symptom management safety behaviour use affects perceived likeability and authenticity during a conversation with a stranger. METHOD: Individuals with SAD (n = 29; mean age 35.5 years) and healthy control (non-SAD) participants (n = 40; mean age 18.6 years) engaged in a semi-structured social interaction with trained confederates. RESULTS: Participants with SAD were perceived as significantly less likeable and authentic by the confederates, and rated themselves as significantly less authentic compared with those without SAD. The association between group status and likeability was mediated by the use of inhibiting/restricting safety behaviours and the association between group status and participant-rated authenticity was mediated by the use of both inhibiting/restricting and active safety behaviours, but not physical symptom management strategies. CONCLUSIONS: These results contribute to a growing literature suggesting that some, but not all, safety behaviours may play an important role in creating the negative social outcomes that individuals with SAD experience.

A Regional Approach to Hospital-Based Violence Intervention Programs Through LOV.

CONTEXT: Community violence is an underaddressed public health threat. Hospital-based violence intervention programs (HVIPs) have been used to address the root causes of violence and prevent reinjury. OBJECTIVE: In this article, we describe the methodology of the St Louis Region-wide HVIP, Life Outside Violence (LOV) program, and provide preliminary process outcomes. DESIGN: Life Outside Violence mentors intervene following a violent injury to decrease risk of subsequent victimization and achieve goals unique to each participant by providing therapeutic counseling and case management services to patients and their families. PARTICIPANTS AND SETTING: Eligible patients are victims of violent injury between the ages of 8 and 24 years, who are residents of St Louis, Missouri, and present for care at a LOV partner adult or pediatric level I trauma hospital. INTERVENTION: Enrolled participants receive program services for 6 to 12 months and complete an individual treatment plan. MAIN OUTCOME MEASURES: In this article, we report LOV operational methodology, as well as process metrics, including program enrollment, graduation, and qualitative data on program implementation. RESULTS: From August 15, 2018, through April 30, 2022, 1750 LOV-eligible violently injured patients presented to a partner hospital, 349 were approached for program enrollment, and 206 consented to enroll in the program. During this pilot phase, 91 participants graduated from the LOV program and have process output data available for analysis. CONCLUSIONS: Life Outside Violence has been implemented into clinical practice as the first HVIP to influence across an entire region through partnership with multiple university and hospital systems. It is our hope that methods shared in this article will serve as a primer for organizations hoping to implement and expand HVIPs to interrupt community violence at the regional level.

Online versus in-person delivery of cognitive behaviour therapy for obsessive compulsive disorder: An examination of effectiveness.

Cognitive behavioural therapy (CBT) including exposure and response prevention is the first-line psychological treatment for obsessive compulsive disorder (OCD). Given changes in the clinical landscape, there are increasing efforts to evaluate its effectiveness in online contexts. Mirroring the traditional in-person delivery, few studies have assessed the role of therapist-guided, manual-based CBT for OCD delivered in real-time via videoconferencing methods. The present study sought to fill this gap by comparing in-person and online delivery of group-based CBT for the treatment of OCD. A convenience sample of participants with moderate to severe OCD (n = 144) were recruited from a naturalistic database from two large OCD specialty assessment and treatment centres. Patients received group-based CBT that was provided in-person (pre-COVID-19 pandemic; March 2018 to March 2020) or online via videoconferencing (during the COVID-19 pandemic; March 2020 to April 2021). In both delivery methods, treatment consisted of 2-h weekly sessions led by trained clinicians. Analyses revealed that, regardless of treatment modality, both in-person and online groups demonstrated significant, reliable, and statistically equivalent improvements in OCD symptoms post-treatment. Videoconferenced, clinician-led CBT may be a promising alternative to in-person delivery for those with moderate to severe OCD symptoms.