Objectives: Creating a diverse and inclusive symbiotic society is specified in the sustainable development goals. In a symbiotic society, support for those who need, it is called “reasonable support.” However, it is unclear in the classroom that many children understand “reasonable” as a consideration to support children with special needs. The aim of this study is to identify the actual understanding of junior high school students and the challenges related to genetic diversity through school health teachers in readiness for developing a symbiotic society. Methods: A focus group interview was conducted for five school health teachers working in public junior high schools to identify the perspectives of their feeling about the current understanding of children in regard to genetics and diversity. Participants were recruited who agreed to engage voluntarily in this research. A qualitative descriptive design was used in this study. Results: The results of the analysis revealed three categories consisting of 67 codes and 10 subcategories. Three categories were identified: I—understanding the heterogeneity and diversity of children’s ambivalent minds; II—limitation of school health teachers’ involvement in genetics and diversity-related issues; and III—importance for children to understand heterogeneity and diversity to build life skills. Conclusions: School health teachers remarked on the limitations of learning and teaching genetics and diversity. They paid attention to the flexibility of a child. It suggests that the purpose of genetic education is to develop children’s life skills with the flexibility to live in the future. There is a need to consider new genetic education for school health teachers and students to learn about diversity.
Background: After the Japanese nuclear power plant disaster in 2011, many residents became concerned about health effects of radiation. We aimed to evaluate the effectiveness of a training program for public health and school health nurses to improve their skills and expertise for better support to residents and students. Methods: This was a quasi-experimental study using single-group and pre-post comparison in 2016 in Hiroshima, Kagoshima and Hyogo prefectures of Japan. The educational evaluation was conducted through each sub-item of Bloom’s attainment goals. The evaluation of effectiveness was surveyed among 61 participants before and immediately after the workshop, and at 1-week and 1-month later. The analysis compared initial scores obtained before the workshop with subsequent responses. Where a significant difference was observed among three-group or more in the Friedman test, the Wilcoxon signed-rank test was used for two-group comparisons across the time periods. The significance level was set at P<0.05. Results: Data of 54 participants were analyzed. The knowledge based on Bloom’s taxonomy was increased as the number of correct responses increased significantly after the workshop (P<0.001). Cognitive domain was significantly increased after 1-week and 1-month (P<0.001). Affective and psychomotor performances were also increased compared with prior. Participants increased vocabulary related to radiation and developed confidence in radiation disaster recovery measures. Conclusion: Each sub-item of the Bloom’s attainment (goal, cognitive, affective, psychomotor) has almost been reached and the effect was maintained even after 1-month. By learning concrete words, they could explain accurately. Participants improved their confidence after receiving the training to respond and clarify the radiation anxieties to the community people.
Background Ehlers-Danlos syndrome is an inherited connective-tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Intestinal perforation is one of the fatal manifestations of this syndrome, and its management is complicated. Case presentation A 58-year-old woman with a familial history of Ehlers-Danlos syndrome visited the emergency department due to a sudden onset of lower abdominal pain. Plain abdominal computed tomography showed abdominal free air. We found a perforated descending colon and subsequently resected this lesion and performed ileostomy. Fifty-one days after this first operation, the patient had transverse colon perforation and thus underwent the Hartmann procedure as the second operation. In addition, she was diagnosed with small bowel perforation 53 days after the first operation and consequently underwent a third operation—partial resection of the jejunum with functional end-to-end anastomosis. Fifty-eight days after the first operation, she complained of acute abdominal pain. Plain abdominal computed tomography showed fluid collection near the jejunojejunal anastomosis. We detected dehiscence at the entry hole of the linear stapler during the operation and thus performed partial resection of the affected jejunum, followed by jejunostomy. The postoperative course of the fourth operation was uneventful. Genetic testing revealed a novel missense mutation (c.2095G>T, p.Gly699Cys) in the COL3A1 gene, which is presumed to be a pathogenic variant of vascular Ehlers-Danlos syndrome. Conclusion Vascular Ehlers-Danlos syndrome should be considered in the case of repeated intestinal perforation. The identified missense mutation in the COL3A1 gene (c.2095G>T, p.Gly699Cys) might be a novel pathogenic variation causing vascular Ehlers-Danlos syndrome. Careful postoperative screening and multidisciplinary management are required.
For neuromuscular disease the best diagnosis is by genetic testing. Genetic testing is very important, however, the influence which a positive result can have on a family is very considerable. It can affect the family's lifestyle a lot. For example presymptomatic and prenatal genetic testing may be necessary for the family's children when they become adults themselves. We did qualitative research with five people who received presymptomatic genetic testing because of a family member with familial amyloidic polyneropathy. Heredity problems had a big influence on their life and on family dynamics. In order to support hereditary disease patients and their families, it is important to make a system which all medical institutions can use to help them cooperate together and deal with the treatment of hereditary diseases.
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