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Those Who Gathered Around Yanagita Kunio’s Library: Yanagita Kunio and “The Golden Bough”(2)
Get PDFArticle信州大学教育学部研究論集 18 : 79-96, (2024)departmental bulletin pape
Dissolution Concepts of Children One Year After Learning About the Presence of Solutes in Solution Using Water-Soluble Fluorescent Dyes.
Get PDFArticle信州大学教育学部研究論集 18 : 271-281, (2024)departmental bulletin pape
重度・重複障害のある子どものための感覚を活用した授業・教材づくり ―知的障害と肢体不自由を併せ有する生徒への授業実践を通して―
Get PDFArticle令和5年度 信州大学大学院教育学研究科高度教職実践専攻（教職大学院）実践研究報告書抄録集 : 53-56, (2024)departmental bulletin pape
中学校音楽科鑑賞領域における深い学びを実現する授業づくり ―知識の駆動に着目して―
Get PDFArticle令和5年度 信州大学大学院教育学研究科高度教職実践専攻（教職大学院）実践研究報告書抄録集 : 57-60, (2024)departmental bulletin pape
生徒が数学的活動に主体的に取り組む授業づくり ―数学的活動での振り返りに焦点を当てて―
Get PDFArticle令和5年度 信州大学大学院教育学研究科高度教職実践専攻（教職大学院）実践研究報告書抄録集 : 101-104, (2024)departmental bulletin pape
教職を目指す学生の特別支援教育に関する不安感（２） ASD，情緒障害，知的障害，LD，ADHD，精神障害を対象に
Get PDFArticle教職研究 15 : 61-79, (2024)departmental bulletin pape
On cursive-punctuation in Kokatsujiban (Japanese old movable-type printing system)
Get PDFArticle信州大学人文科学論集 11(2) : 159-165, (2024)departmental bulletin pape
Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study
Get PDFBackground: Hereditary transthyretin-related amyloidosis is an autosomal dominant disorder. Recently, disease-modifying therapies (DMTs) have been developed. For at-risk individuals, genetic analysis aids in the early administration of medical care; however, few studies have evaluated the current status of genetic counselling and management of presymptomatic carriers of amyloidogenic variants. Methods: We retrospectively evaluated the medical records of 202 consecutive participants. Results: A total of 103 clients who received genetic counselling for predictive testing were at-risk, and 83 underwent predictive testing. Genetic testing results were positive in 33 patients, 11 of whom had confirmed amyloid deposition and were administered DMTs. For presymptomatic V30M (p.V50M) carriers, 32.0 ± 2.4 years (median ± standard error) was the age when amyloid deposition was first identified (95% confidence interval 27.4-36.6). Serum transthyretin (TTR) levels decreased serially with an estimated slope of -1.2 mg/dL/year. Conclusions: Our study suggests the clinical utility of management using a combination of predictive testing and monitoring methods. Psychosocial support should be considered with collaboration between geneticists/genetic counsellors and psychologists. For a more optimised protocol for monitoring and designing future interventional trials in presymptomatic carriers, prospective cohort studies are necessary to clarify the natural history, particularly in the early stages of the disease.ArticleAmyloid, 2024, Volume 31, Issue 3, Pages 179-183journal articl