Molecular Diagnosis of Deafness
Usami, Shin-Ichi
- 出版商: Springer
- 出版日期: 2025-01-21
- 售價: $4,610
- 貴賓價: 9.5 折 $4,380
- 語言: 英文
- 頁數: 150
- 裝訂: Hardcover - also called cloth, retail trade, or trade
- ISBN: 443154173X
- ISBN-13: 9784431541738
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商品描述
Genetic disorders are a common cause of congenital/early-onset sensorineural hearing loss. The identification of genes that are responsible for hearing loss is a breakthrough approach and has advanced our knowledge of the biology of hearing. Despite advances in the discovery of deafness genes, clinical application still presents problems because of the genetic heterogeneity of deafness. Genetic testing has become more important for highly accurate diagnosis, predicting the severity of hearing loss and associated abnormalities, selecting appropriate treatment options, preventing hearing loss, and better genetic counseling. In this book, the genes responsible for hearing loss will be reviewed, and a diagnostic strategy for mutation screening using a mutation/gene database based on the mutation spectrum of a corresponding population will be discussed. The simultaneous examination of the multiple deafness mutations by means of Invader assay followed by direct sequencing will enable us todetect deafness mutations in an efficient and practical manner for clinical use. We will discuss the genetic background of the pre-lingual as well as post-lingual deafness patients with cochlear implantation. Furthermore, auditory performance after cochlear implantation will be reviewed in the patients who underwent genetic evaluation. In addition to the above-mentioned factors, future screening for deafness genes will also be discussed in connection with the fact that many patients want to know their etiology, the most effective treatment, and helpful counseling about recurrence rates. Genetic counseling is important for the patients and their families to understand the heredity of hearing. Genetic counseling-based approaches are an important issue and when to perform genetic counseling will be discussed. A new era is now approaching in which ENT clinicians will be able to access genetic testing. This book, focusing on clinical application of genetic testing for deafness patients, will greatly benefit not only ENT clinicians including residents, but also geneticists and genetic counselors for clinical use.
商品描述(中文翻譯)
遺傳性疾病是先天性/早發性感音性聽力損失的常見原因。識別導致聽力損失的基因是一項突破性的方法,並且增進了我們對聽覺生物學的理解。儘管在聾症基因的發現上取得了進展,但由於聾症的遺傳異質性,臨床應用仍然面臨問題。基因檢測在高度準確的診斷、預測聽力損失的嚴重程度及相關異常、選擇適當的治療選項、預防聽力損失以及提供更好的遺傳諮詢方面變得越來越重要。本書將回顧導致聽力損失的基因,並討論基於相應人群突變譜的突變/基因數據庫的突變篩查診斷策略。通過Invader檢測法同時檢查多個聾症突變,隨後進行直接測序,將使我們能夠以高效且實用的方式檢測臨床使用的聾症突變。我們將討論接受人工耳蝸植入的先天性及後天性聾症患者的遺傳背景。此外,將回顧接受基因評估的患者在人工耳蝸植入後的聽覺表現。除了上述因素外,未來對聾症基因的篩查也將與許多患者希望了解其病因、最有效的治療方法以及有關復發率的有用諮詢相關聯。遺傳諮詢對於患者及其家庭理解聽力的遺傳性非常重要。基於遺傳諮詢的方法是一個重要議題,何時進行遺傳諮詢將被討論。一個新的時代即將來臨,耳鼻喉科醫師將能夠進行基因檢測。本書專注於聾症患者基因檢測的臨床應用,將對包括住院醫師在內的耳鼻喉科醫師,以及遺傳學家和遺傳諮詢師的臨床使用帶來極大的益處。
作者簡介
Shin-ichi Usami, M.D., Ph.D. Professor and Chairman Department of Otorhinolaryngology Shinshu University School of Medicine 3-1-1 Asahi, Matsumoto 390-8621 Japan Tel: +81-263-37-2666 Fax: +81-263-36-9164 E-Mail: usami@shinshu-u.ac.jp
作者簡介(中文翻譯)
宇佐美信一醫學博士 教授暨主任 耳鼻喉科 信州大學醫學院 日本長野縣松本市朝日3-1-1 390-8621 電話:+81-263-37-2666 傳真:+81-263-36-9164 電子郵件:usami@shinshu-u.ac.jp