Notes

[Research advance of medicinal connection between astragalosides upon nerves diseases].
© 2020 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd.As in many other countries, the field of genetic counseling is in its initial stages of development in India, where there are efforts to streamline the profession and to implement graduate-level training programs. We implemented an elective course on genetic counseling at the undergraduate level in a private university in India to assess students' interest, to provide early exposure for students interested in pursuing the career, and to aid recruitment. To assess satisfaction with the course and recruitment outcomes, we sent a course evaluation survey to 332 students and received 134 responses. Familiarity with genetic counseling topics increased significantly after completing the course. Of the 42 respondents who reported they were planning to pursue formal genetic counseling training, 21% (n = 9/42) became interested in the profession as a result of taking this course. Survey respondents who were prospective applicants to genetic counseling training programs referred mostly to the websites of the National Society of Genetic Counselors and the American Board of Genetic Counseling for information on genetic counseling and training. Barriers to entry into the field included lack of shadowing opportunities, inadequate coursework, and limited opportunities to interact with practicing genetic counselors. Respondents stated that additional case studies as well as observation of patient interactions would elucidate the role of a genetic counselor and help define the scope of the practice in India and other countries. Overall, genetic counseling education at the undergraduate level is a scalable way to improve understanding of genetic counseling topics, increase professional interest in the field, and support workforce development. © 2020 National Society of Genetic Counselors.INTRODUCTION The efficacy and safety of recombinant factor VIII Fc fusion protein (rFVIIIFc) as an extended half-life treatment for severe haemophilia A were demonstrated in the Phase 3 A-LONG and Kids A-LONG studies. Eligible subjects who completed A-LONG and Kids A-LONG could enrol in ASPIRE (NCT01454739), an open-label extension study. AIM To report the long-term safety and efficacy of rFVIIIFc in subjects with severe haemophilia A who enrolled in ASPIRE. METHODS Previously treated subjects received one or more of the following regimens individualized prophylaxis (IP), weekly prophylaxis, modified prophylaxis or episodic treatment. Subjects could switch treatment regimen at any time. The primary endpoint was inhibitor development. RESULTS A total of 150 subjects from A-LONG and 61 subjects from Kids A-LONG enrolled in ASPIRE. Most subjects received the IP regimen (A-LONG n = 110; Kids A-LONG n = 59). Median (range) treatment duration in ASPIRE for subjects from A-LONG and Kids A-LONG was 3.9 (0.1-5.3) years and 3.2 (0.3-3.9) years, respectively. No inhibitors were observed (0 per 1000 subject-years; 95% confidence interval, 0-5.2) and the overall rFVIIIFc safety profile was consistent with prior studies. For subjects on the IP regimen, annualized bleed rates (ABR) remained low (median overall ABR for adults and adolescents was less then 1.0) and extended-dosing intervals were maintained (median of 3.5 days) for the majority of subjects in ASPIRE. CONCLUSION ASPIRE results, which include up to 5 years of follow-up data, confirm earlier reports on the consistent and well-characterized safety and efficacy of rFVIIIFc treatment for severe haemophilia A. © 2020 John Wiley & Sons Ltd.Tumour thrombus is a complication that occurs when a malignancy invades into the vasculature, occluding its lumen. Here, we present a rare case of melanoma tumour thrombus of the great saphenous vein of the left thigh, which was diagnosed on 18 F-fluorodeoxyglucose positron emission tomography/computed tomography and ultrasound-guided biopsy, and responded well to immunotherapy with pembrolizumab. © 2020 The Royal Australian and New Zealand College of Radiologists.Hispanic patients comprise an appreciable and increasing proportion of patients with cystic fibrosis (CF) in the United States (US). Hispanic patients with CF are known to have increased morbidity and mortality compared to non-Hispanic white patients with CF, and ongoing investigations are underway to identify contributing factors amenable to intervention in order to address the disparate health outcomes. One contributing factor is the different CF transmembrane conductance regulator (CFTR) variant profile observed in Hispanic patients with CF. The most common CFTR variant, p.Phe508del (legacy name F508del), is proportionally underrepresented in Hispanic patients with CF. This difference has implications for prenatal screening, newborn screening (NBS), and CFTR variant-specific therapeutic options. In particular, the recent approval of a highly effective CFTR modulator for patients carrying at least one copy of F508del, elexacaftor/tezacaftor/ivacaftor triple combination therapy, underscores the potential forgnosis, and without an approved CFTR variant-specific therapy. © 2020 National Society of Genetic Counselors.Lack of diversity in the genetic counseling profession has been a concern for over 20 years, with the National Society of Genetic Counselors identifying increasing diversity and inclusion as a strategic focus in 2019. Previous research has revealed potential barriers that could explain the low number of diverse applicants to genetic counseling graduate programs. The aims of this pilot study were to test strategies for participation and site recruitment methods for Historically Black Colleges and Universities (HBCUs) and to evaluate the effectiveness of a brief presentation tailored to African American students. Recruitment emails were sent to career services and 124 biology/psychology department chairs from HBCUs and one predominately white institution with over 10% black student population. There was a 16% response rate through career services and a 25% response rate from department chairs. buy Tranilast Different sections of a single biology class at one HBCU were randomly assigned to either attend a class presentation by an African American second-year genetic counseling student and given a brochure detailing the same information (presentation group), or receive a brochure only (brochure group).
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