6 research outputs found

    Common DNA Variants Accurately Rank an Individual of Extreme Height

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    Polygenic scores (or genetic risk scores) quantify the aggregate of small effects from many common genetic loci that have been associated with a trait through genome-wide association. Polygenic scores were first used successfully in schizophrenia and have since been applied to multiple phenotypes including multiple sclerosis, rheumatoid arthritis, and height. Because human height is an easily-measured and complex polygenic trait, polygenic height scores provide exciting insights into the predictability of aggregate common variant effect on the phenotype. Shawn Bradley is an extremely tall former professional basketball player from Brigham Young University and the National Basketball Association (NBA), measuring 2.29 meters (7′6″, 99.99999th percentile for height) tall, with no known medical conditions. Here, we present a case where a rare combination of common SNPs in one individual results in an extremely high polygenic height score that is correlated with an extreme phenotype. While polygenic scores are not clinically significant in the average case, our findings suggest that for extreme phenotypes, polygenic scores may be more successful for the prediction of individuals

    Practice patterns of female cardiothoracic surgeons older than age 58 years: Are we making progress?

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    OBJECTIVE: Women remain a small minority of cardiothoracic surgeons, and within adult cardiac surgery, the gender gap widens. This study examines the career pathway and trajectory of female adult cardiac surgeons. METHODS: Female cardiothoracic surgeons were identified from the American Board of Thoracic Surgery diplomates over 58 years. Publicly available information was obtained to determine years in practice, practice type, academic and leadership title(s), and location of practice. RESULTS: The average number of years in practice for female adult cardiac surgeons was 13.1. Those categorized as adult cardiac surgeons composed 25.4% (n = 90) of all female cardiothoracic diplomates and 134 (37.9%) were categorized as other subspecialty practice. Of the adult cardiac surgeons, 33.3% (n = 30) practiced privately and the remainder in academic practice. Academic titles were held by 47.8% (43 out of 90) and 30% (27 out of 90) held a position of leadership. Of those in academic practice, 25% (11 out of 42) are titled professor, whereas 43% (18 out of 42) are assistant professors. Most commonly, those in positions of leadership held the title director, which reflects 37% (10 out of 27) of individuals. Practice locations were distributed throughout the United States, with the highest number in the northeast (26.7%). CONCLUSIONS: Only a small portion of female cardiothoracic surgeons pursue a career in adult cardiac surgery compared to their male counterparts. From 1999 to 2009, 1300 individuals were board certified cardiothoracic surgeons, of whom only 103 (7.9%) were female. Of these, the majority of female cardiothoracic surgeons entered academic practice. Although the overall number of practicing female adult cardiac surgeons has increased with a growth rate of 10.7%, this number remains extremely low. A discrepancy remains between gender representation of academic titles and leadership positions. Although the field has increased female representation over the past few decades, work remains to ensure all potential talent is encouraged and supported

    Gender-based Barriers in the Advancement of Women Leaders in Emergency Medicine: A Multi-institutional Qualitative Study

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    Introduction: Leadership positions occupied by women within academic emergency medicine have remained stagnant despite increasing numbers of women with faculty appointments. We distributed a multi-institutional survey to women faculty and residents to evaluate categorical characteristics contributing to success and differences between the two groups.Methods: An institutional review board-approved electronic survey was distributed to women faculty and residents at eight institutions and were completed anonymously. We created survey questions to assess multiple categories: determination; resiliency; career support and obstacles; career aspiration; and gender discrimination. Most questions used a Likert five-point scale. Responses for each question and category were averaged and deemed significant if the average was greater than or equal to 4 in the affirmative, or less than or equal to 2 in the negative. We calculated proportions for binary questions.  Results: The overall response rate was 55.23% (95/172). The faculty response rate was 54.1% (59/109) and residents’ response rate was 57.1% (36/63). Significant levels of resiliency were reported, with a mean score of 4.02. Childbearing and rearing were not significant barriers overall but were more commonly reported as barriers for faculty over residents (P <0.001). Obstacles reported included a lack of confidence during work-related negotiations and insufficient research experience. Notably, 68.4% (65/95) of respondents experienced gender discrimination and 9.5% (9/95) reported at least one encounter of sexual assault by a colleague or supervisor during their career. Conclusion: Targeted interventions to promote female leadership in academic emergency medicine include coaching on negotiation skills, improved resources and mentorship to support research, and enforcement of safe work environments. Female emergency physician resiliency is high and not a barrier to career advancement
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