Unraveling the genomic diversity and admixture history of captive tigers in the United States.

Genomic studies of endangered species have primarily focused on describing diversity patterns and resolving phylogenetic relationships, with the overarching goal of informing conservation efforts. However, few studies have investigated genomic diversity housed in captive populations. For tigers (Panthera tigris), captive individuals vastly outnumber those in the wild, but their diversity remains largely unexplored. Privately owned captive tiger populations have remained an enigma in the conservation community, with some believing that these individuals are severely inbred, while others believe they may be a source of now-extinct diversity. Here, we present a large-scale genetic study of the private (non-zoo) captive tiger population in the United States, also known as "Generic" tigers. We find that the Generic tiger population has an admixture fingerprint comprising all six extant wild tiger subspecies. Of the 138 Generic individuals sequenced for the purpose of this study, no individual had ancestry from only one subspecies. We show that the Generic tiger population has a comparable amount of genetic diversity relative to most wild subspecies, few private variants, and fewer deleterious mutations. We observe inbreeding coefficients similar to wild populations, although there are some individuals within both the Generic and wild populations that are substantially inbred. Additionally, we develop a reference panel for tigers that can be used with imputation to accurately distinguish individuals and assign ancestry with ultralow coverage (0.25×) data. By providing a cost-effective alternative to whole-genome sequencing (WGS), the reference panel provides a resource to assist in tiger conservation efforts for both ex- and in situ populations.

Implications of Cardiac Scarring on Body Image Disturbance Among Young Adults With Congenital Heart Defects.

BACKGROUND: Many individuals with congenital heart disease (CHD) undergo open heart surgery, resulting in prominent scarring. However, little research has assessed the impact of surgical scarring on body image in this population. OBJECTIVE: Within this cross-sectional study, associations between body image concerns, anxiety and depression symptoms, and health-related quality of life among individuals with CHD were evaluated. METHODS: Young adults with CHD (N = 138) completed the Body Image Disturbance Questionnaire along with other patient-reported outcome measures. RESULTS: Scores on the Body Image Disturbance Questionnaire were lower (mean, 1.3 ± 0.5) than populations with diabetes amputations, craniofacial conditions, idiopathic scoliosis, and clinical controls. Higher Body Image Disturbance Questionnaire scores were reported among women (P = .003) and were associated with greater anxiety (P = .000) and depression (P = .13) after controlling for sex. CONCLUSIONS: Body image concerns related to cardiac surgery scarring are especially prominent in women and associated with greater emotional distress, suggesting potential clinical relevance for evaluating body image concerns in persons with CHD.

Associations of Impulsivity and Risky Decision-Making with E-Cigarette-Related Outcomes Among Adolescents with Congenital Heart Disease: Variable- and Person-Oriented Approaches.

Adolescents with congenital heart disease (CHD) have elevated risk for acquired cardiovascular complications, increasing their vulnerability to e-cigarette-related health harms. Impulsivity and risky decision-making have been associated with adolescent substance use, but the relationships between these factors and e-cigarette-related outcomes among cardiovascular at-risk adolescents with CHD are unknown. This cross-sectional study aimed to (a) determine the associations of impulsivity and risky decision-making with e-cigarette-related outcomes (i.e. susceptibility, ever use, perceptions of harm and addictiveness) via variable-oriented analysis (logistic regression), (b) identify groups of adolescents with similar profiles of impulsivity and risky decision-making via exploratory person-oriented analysis (latent profile analysis; LPA), and (c) examine differences on e-cigarette-related outcomes between profile groups. Adolescents aged 12 to 18 years with CHD (N = 98) completed a survey assessing impulsivity facets (Short UPPS-P) and e-cigarette-related outcomes and were administered a risky decision-making task (Iowa Gambling Task, Version 2; IGT2). In variable-oriented analyses, impulsivity facets (negative urgency, positive urgency, lack of premeditation) but not risky decision-making were associated with e-cigarette susceptibility and ever use. The exploratory LPA identified two groups with similar patterns of responding on the Short UPPS-P and IGT2 labeled "Low Impulsivity" and "High Impulsivity," which were primarily characterized by significant differences in negative and positive urgency. Adolescents in the High Impulsivity group had increased odds of e-cigarette susceptibility but not ever use compared to the Low Impulsivity group. This work indicates that strategies to prevent e-cigarette use among adolescents with CHD may be enhanced by addressing impulsivity, particularly negative and positive urgency.

The Association of Global and Disease-Related Stress With Susceptibility to and Use of E-Cigarettes and Marijuana Among Adolescents With Congenital Heart Disease.

OBJECTIVE: Adolescents with congenital heart disease (CHD) are exposed to disease-related stressors and have elevated risk for cardiovascular and cognitive complications that are exacerbated by e-cigarettes and marijuana. The aims of this cross-sectional study are to: (1) identify the association between perceived global and disease-related stress and susceptibility to e-cigarettes and marijuana, (2) determine if the association between stress and susceptibility differs by gender, and (3) explore the association between stress and ever use of e-cigarettes and marijuana among adolescents with CHD. METHODS: Adolescents with CHD (N = 98; aged 12-18 years) completed self-report measures of susceptibility to/ever use of e-cigarettes and marijuana and global and disease-related stress. RESULTS: Susceptibility to e-cigarettes and marijuana was reported by 31.3% and 40.2% of adolescents, respectively. Ever use of e-cigarettes and marijuana was reported by 15.3% and 14.3% of adolescents, respectively. Global stress was associated with susceptibility to and ever use of e-cigarettes and marijuana. Disease-related stress was associated with susceptibility to marijuana. Females reported more global and disease-related stress than males, but the association of stress with susceptibility to e-cigarettes and marijuana did not differ by gender. CONCLUSIONS: Susceptibility to e-cigarettes and marijuana is common among adolescents with CHD and is associated with stress. Future work to examine the longitudinal associations between susceptibility, stress, and use of e-cigarettes and marijuana is warranted. Global stress may be an important consideration in the development of strategies to prevent these risky health behaviors among adolescents with CHD.

Healthcare Use Among Black and White Congenital Heart Disease Medicaid Enrollees.

Congenital heart disease (CHD) is the most common birth anomaly in the US. Research shows lost-to-follow-up trends and racial disparities in healthcare use. This study examines racial differences in healthcare use among Medicaid-covered children with CHD. Using 2010-2019 claims data from a pediatric Medicaid Accountable Care Organization, 960 Black and White children with complex CHD and ≥ 3 years of continuous Medicaid coverage were identified. Three cohorts were constructed (starting age: < 1-year-olds, 1-5-year-olds, 6-15-year-olds) and followed for 3 years. Multivariate analysis assessed annual healthcare use (cardiology, primary care, emergency department) by race, adjusting for patient and provider covariates. Overall, 51% of patients had an annual cardiology visit, and 54% had an annual primary care visit. Among the 1-5-year-old cohort, Black children were predicted to be 13% less likely to have an annual cardiology visit compared to their White counterparts (p = 0.001). Older Black children were predicted to be more likely to have a primary care visit compared to their White counterparts. Nearly half of Medicaid-enrolled children with complex CHD did not receive recommended cardiology care. Young Black children were less likely to receive an annual cardiac visit, while older Black children were more likely to receive primary care. While the percentage with an annual cardiac visit was low, the majority had seen a cardiologist within the 3-year window, suggesting these children are still receiving cardiology care, if less frequently than recommended. Opportunities exist for cardiology and primary care to collaborate to ensure patients receive timely recommended care.

Genomic insights into variation in thermotolerance between hybridizing swordtail fishes.

Understanding how organisms adapt to changing environments is a core focus of research in evolutionary biology. One common mechanism is adaptive introgression, which has received increasing attention as a potential route to rapid adaptation in populations struggling in the face of ecological change, particularly global climate change. However, hybridization can also result in deleterious genetic interactions that may limit the benefits of adaptive introgression. Here, we used a combination of genome-wide quantitative trait locus mapping and differential gene expression analyses between the swordtail fish species Xiphophorus malinche and X. birchmanni to study the consequences of hybridization on thermotolerance. While these two species are adapted to different thermal environments, we document a complicated architecture of thermotolerance in hybrids. We identify a region of the genome that contributes to reduced thermotolerance in individuals heterozygous for X. malinche and X. birchmanni ancestry, as well as widespread misexpression in hybrids of genes that respond to thermal stress in the parental species, particularly in the circadian clock pathway. We also show that a previously mapped hybrid incompatibility between X. malinche and X. birchmanni contributes to reduced thermotolerance in hybrids. Together, our results highlight the challenges of understanding the impact of hybridization on complex ecological traits and its potential impact on adaptive introgression.

Ambivalence is associated with decreased physical activity and cardiorespiratory fitness among adolescents with critical congenital heart disease.

BACKGROUND: Adolescents with congenital heart disease (CHD) are insufficiently physically active. Given that increasing physical activity may reduce their cardiovascular risk, it is important to identify correlates of this behavior. Perceived benefits of and barriers to physical activity are associated with physical activity engagement. Existing research has only considered these constructs separately. This population may be ambivalent toward physical activity (i.e., perceive both strong benefits and barriers). The association of ambivalence and physical activity related outcomes is unknown among this at-risk population. OBJECTIVE: Determine the association of ambivalence and sedentary behavior, moderate-to-vigorous physical activity (MVPA), and cardiorespiratory fitness (VO2Peak) among adolescents with CHD. METHODS: The present study is an analysis of data from an eligibility assessment for a randomized clinical trial of an intervention to promote MVPA among adolescents aged 15 to 18 years with moderate or complex CHD. Participants (N = 84) completed a survey assessing perceived benefits and barriers from which ambivalence toward physical activity was calculated, an exercise stress test to measure VO2Peak, and wore an accelerometer for one week to determine their engagement in sedentary behavior and MVPA. Linear regression analyses determined associations between ambivalence and physical activity related outcomes. RESULTS: Greater ambivalence toward physical activity was associated with increased sedentary behavior, decreased MVPA, and reduced VO2Peak, adjusting for demographic and clinical covariates. CONCLUSIONS: Ambivalence is associated with objectively measured physical activity (sedentary behavior, MVPA) and a biomarker of cardiovascular health (VO2Peak). Screening for ambivalence may help clinicians identify those most likely to benefit from physical activity-related education.

Racial disparities among candidemic patients at a Southern California teaching hospital.

Racially and ethnically minoritized (REM) patients are disproportionately affected by infectious diseases, including candidemia. REM patients with candidemia were significantly younger, with trends toward more risk factors for candidemia and longer lengths of stay. Although Candida parapsilosis was more common in REM patients, there were no differences in mortality rates.

Structural Racism, Social Determinants of Health, and Provider Bias: Impact on Brain Development in Critical Congenital Heart Disease.

Critical congenital heart disease (cCHD) has neurodevelopmental sequelae that can carry into adulthood, which may be due to aberrant brain development or brain injury in the prenatal and perinatal/neonatal periods and beyond. Health disparities based on the intersection of sex, geography, race, and ethnicity have been identified for poorer pre- and postnatal outcomes in the general population, as well as those with cCHD. These disparities are likely driven by structural racism, disparities in social determinants of health, and provider bias, which further compound negative brain development outcomes. This review discusses how aberrant brain development in cCHD early in life is affected by reduced access to quality care (ie, prenatal care and testing, postnatal care) due to divestment in non-White neighbourhoods (eg, redlining) and food insecurity, differences in insurance status, location of residence, and perceived interpersonal racism and bias that disproportionately affects pregnant people of colour who have fewer economic resources. Suggestions are discussed for moving forward with implementing strategies in medical education, clinical care, research, and gaining insight into the communities served to combat disparities and bias while promoting cultural humility.

Characterizing Safety and Clinical Outcomes Associated with High-Dose Micafungin Utilization in Patients with Proven Invasive Candidiasis.

Micafungin is the empiric antifungal agent of choice for the treatment of invasive candidiasis (IC). Pathophysiologic changes that occur in obese and/or critically ill patients can alter micafungin serum concentrations and the probability of target attainment. Although high doses of micafungin have been shown to be safe, clinical outcomes have not been widely evaluated. We conducted a single-center, retrospective observational study evaluating safety and clinical outcomes among adult patients treated with ≥200 mg of micafungin for ≥3 days for proven IC from 1 September 2013 through 1 September 2021. Twenty-three unique encounters for 21 patients were evaluated. The median BMI and APACHE II scores were 37.1 (IQR 28.8-48.9) and 24 (IQR 17.7-31), respectively. The median average daily dose of micafungin was 300 mg (IQR 275-400). Patients were treated with high-dose (HD) micafungin for the entirety of their echinocandin course in 15 encounters (65.2%). Transaminases remained stable, while a trend towards increased alkaline phosphatase was observed. A total of four deaths occurred (17.4%). Patients that died were predominantly young, Hispanic males who were obese and/or critically ill. Future studies are needed to determine the necessity and appropriate placement of HD micafungin in obese and/or critically ill patients.

Caring for trafficked and unidentified patients in the EHR shadows: Shining a light by sharing the data.

OBJECTIVE: Healthcare providers have key roles in the prevention of, detection of, and interventions for human trafficking. Yet caring for trafficked persons is particularly challenging: patients whose identities are unknown, unreliable, or false could receive subpar care from providers delivering care in a vacuum of relevant information. The application of precision medicine principles and integration of biometric data (including genetic information) could facilitate patient identification, enable longitudinal medical records, and improve continuity and quality of care for this vulnerable patient population. Scant empirical data exist regarding healthcare system preparedness and care for the needs of this vulnerable population nor data on perspectives on the use and risks of biometrics or genetic information for trafficked patients. METHODS: To address this gap, we conducted mixed-methods research involving semi-structured interviews with key informants, which informed a subsequent broad survey of physicians and registered nurses. RESULTS: Our findings support the perception that trafficked persons obtain care yet remain unnoticed or undocumented in the electronic health record. Our survey findings further reveal that healthcare providers remain largely unaware of human trafficking issues and are inadequately prepared to provide patient-centered care for trafficked and unidentified patients. CONCLUSION: Meaningful efforts to design and implement precision medicine initiatives in an inclusive way that optimizes impacts are unlikely to succeed without concurrent efforts to increase general awareness of and preparedness to care for trafficked persons. Additional research is needed to examine properly the potential utility for biometrics to improve the delivery of care for trafficked patients.

Safety at The William Quarrier Scottish Epilepsy Centre.

PURPOSE: We examined the yield from EMFIT bed alarms and staff response time to generalised seizure in a medium term residential assessment unit for epilepsy. METHODS: The Scottish Epilpesy Centre (SEC) has a Video Observation System (VOS) that provides continuous recording of all patient spaces (external and internal) and allows retention of clinically relevant events. A retrospective audit of daily EMFIT test records, nursing seizure record sheets (seizure type and EMFIT alert status), clinical incident reporting systems and the VOS database of retained clinical events was conducted for an 9 month period from April 1st 2016 till December 31st 2016. All generalized tonic clonic seizures (GTCS) were noted by patient, time and location and staff response time to GTCS was calculated. RESULTS: There were 85 people admitted during the audit period who had 61 GTCS. 50 events were in bed and EMFIT alert status was recorded. On 8 occasions the EMFIT did not alert: 5 events were not of sufficient duration or frequency, in 2 the patient fell from the bed early and 1 event the alarm did not trigger. The average response time to GTCS was 23s. The longest response time was 69s (range, 0-69s, sd 15.76.). CONCLUSIONS: The EMFIT bed alarm appears to be a valuable adjunct to safety systems. Within the novel environment of the SEC it is possible to maintain a response time to GTCS that is comparable to hospital based UK video telemetry units.