Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure

BACKGROUND: Spontaneous premature ovarian failure presents most commonly with secondary amenorrhea. Young women with the disorder are infertile and experience the symptoms and sequelae of estrogen deficiency. The mechanisms that give rise to spontaneous premature ovarian failure are largely unknown, but many reports suggest a genetic mechanism in some cases. The small family size associated with infertility makes genetic linkage analysis studies extremely difficult. Another approach that has proven successful has been to examine candidate genes based on known genetic phenotypes in other species. Studies in mice have demonstrated that c-kit, a transmembrane tyrosine kinase receptor, plays a critical role in gametogenesis. Here we test the hypothesis that human KIT mutations might be a cause of spontaneous premature ovarian failure. METHODS AND RESULTS: We examined 42 women with spontaneous premature ovarian failure and found partial X monosomy in two of them. In the remaining 40 women with known 46,XX spontaneous premature ovarian failure we evaluated the entire coding region of the KIT gene. We did this using polymerase chain reaction based single-stranded conformational polymorphism analysis and DNA sequencing. We did not identify a single mutation that would alter the amino acid sequence of the c-KIT protein in any of 40 patients (upper 95% confidence limit is 7.2%). We found one silent mutation at codon 798 and two intronic polymorphisms. CONCLUSION: Mutations in the coding regions of the KIT gene appear not to be a common cause of 46,XX spontaneous premature ovarian failure in North American women

The Environment Encouraging COVID-19 Response at Public Health Centers and Future Challenges in Japan

The coronavirus disease 2019 (COVID-19) pandemic has triggered the implementation of public health measures globally. The health department of local governments has played a critical role in confronting COVID-19. In Japan, public health centers (PHCs) are focal points for COVID-19 response. Understanding the response to COVID-19 in local areas is critical to ensure adequate preparation for future emergencies. Therefore, the purpose of this study is to clarify how the COVID-19 operations by PHCs in Japan were managed and facilitated at the beginning of the infection spread, and their future challenges. We designed a case study that included two PHCs with a population of approximately 400,000 in Japan. Semi-structured focus group interviews with public health nurses from these two PHCs were conducted in September and October 2020. The data were analyzed using chronological time-series analysis. The switch to crisis response was encouraged by the business continuity plan. Their operations for the prevention of COVID-19 in the community were facilitated by the existing network. Further, strengthening the knowledge and skill regarding infectious disease control and management skills during infectious disease-related health emergencies were recommended. It is important to ensure that the environment facilitates emergency response and that people-and-community-centered health promotion activities are conducted, during an emergency situation, with more innovative action and leadership

Understanding competency of nursing students in the course of case-based learning in Cambodia: a convergent mixed method study

Abstract Background In the last decade, nursing education has begun to reform to competency-based education worldwide, including in low-and middle-income countries. Case-Based Learning (CBL), an approach to delivering competency-based education, contributes to acquiring critical thinking competency, problem-solving, higher knowledge, professional value and attitude. However, it needs to be taught in a culturally appropriate manner. In Cambodia, CBL was initiated in a classroom and clinical practicum by faculty and preceptors who graduated from the upgrading course. This study examined the factors associated with the competency level of nursing students, explored the practice and perceptions of teaching–learning activities among students, faculty members and preceptors and assessed the coherence of qualitative and quantitative findings. Methods This was a convergent, mixed methods study. Data were collected from eight educational institutions for quantitative and qualitative studies and seven hospitals for qualitative studies. From June to September 2019, a cross-sectional survey of nursing students in the third year of the three-year programme (n = 719), eight focus group discussions (FGDs; n = 55) with 6–8 members and 15 FGDs with faculty (n = 38) and clinical preceptors (n = 37) with 4–7 members were conducted to elicit the teaching–learning experience and perceptions. Multiple linear regression was performed to investigate the factors associated with student competency. Moreover, the study conducted thematic content analysis on the qualitative data. The integrated analysis was presented as side-by-side joint displays. Results First, the quantitative and qualitative findings confirmed each other ’s CBL learning experiences. Students had higher levels of nursing competencies if they had CBL experiences, both in the classroom and clinical practicum, both in a group manner. Next, the quantitative and qualitative findings complemented students’ academic satisfaction with the teaching by faculty members and preceptors. Finally, the quantitative and qualitative findings were expanded to explain students’ academic satisfaction with the programme. Conclusions The finding of CBL experiences in a group and students’ satisfaction with faculty members’ and preceptors’ teaching improved nursing students’ competency development. Meanwhile, students’ satisfaction with the design and delivery of the educational programme provides implications for policy level to narrow the theory and practice gaps in low- and middle-income countries