- 著者
- Kazuo Yamada Atsushi Watanabe Haruo Takeshita Atsushi Fujita Noriko Miyake Naomichi Matsumoto Ken-ichi Matsumoto
- 出版者
- The Pharmaceutical Society of Japan
- 雑誌
- Biological and Pharmaceutical Bulletin (ISSN:09186158)
- 巻号頁・発行日
- vol.42, no.9, pp.1596-1599, 2019-09-01 (Released:2019-09-01)
- 参考文献数
- 15
- 被引用文献数
- 5 4
Joint hypermobility syndrome (JHS) (also termed hypermobility type Ehlers–Danlos syndrome, hEDS) is a heritable connective tissue disorder that is characterized by generalized joint hypermobility, chronic pain, fatigue, and minor skin changes. Initially, it was reported that there is a small subset of patients with JHS/hEDS who have haploinsufficiency of tenascin-X (TNX). However, the relationship between TNXB and JHS/hEDS has not been reported at all afterwards. EDS was reclassified into thirteen types in 2017, and the causative gene of JHS/hEDS remained to be identified. Therefore, in this study in order to determine whether JHS/hEDS can be diagnosed by the concentrations of serum form of TNX (sTNX), we measured the concentrations of sTNX in 17 JHS/hEDS patients. The sTNX concentrations in half of the JHS/hEDS patients were significantly lower than those in healthy individuals. No mutations, insertions or deletions were detected in the TNX exon sequence of the JHS/hEDS patients except for one in patient. That patient has a heterozygous mutation. A correlation between sTNX concentration and mutation of the TNXB genomic sequence was not found in the JHS/hEDS patients. These results indicate that the decrease in sTNX concentration could be used as a risk factor for JHS/hEDS.
- 著者
- Shinji KUSUMOTO Ken-ichi MATSUMOTO Tohru KIKUNO Koji TORII
- 出版者
- The Institute of Electronics, Information and Communication Engineers
- 雑誌
- IEICE TRANSACTIONS on Information and Systems (ISSN:09168532)
- 巻号頁・発行日
- vol.E75-D, no.5, pp.674-680, 1992-09-25
This paper describes a new metric for evaluating the cost effectiveness of software reviews. The proposed metric is based on the degree to which costs needed for detecting all faults from software are reduced by software reviews in a project. The metric can be interpreted as combining two conventional metrics proposed by Fagan (1976) and Collofello and Woodfield (1989). As the proposed metric is normalized by virtual testing cost, we can compare the values of it among any different kind of projects. Using an experimental evaluation of the conventional metrics and the proposed metric for data collected in an industrial environment, we show the validity and usefulness of the proposed metric. In addition, we present a method to estimate a value of the proposed metric by using only the values which can be computed during the software reviews.