QS198. Heterotopic Ossification in Blast and Combat Related Injuries
详细信息 查看全文
- 作者：Josh Pepek ; Jonathan A. Forsberg ; Kate Morteson ; Kevin Wilson ; Scott Wagner ; Daniel Valaik ; Daniel Valaik ; Alex ; er Stojadinovic ; Douglas K. Tadaki ; Eric A. Elster
- 关键词：apoptosis ; interleukin-18 ; ischemia ; renal injury ; reperfusion ; transplantation ; rejection
- 刊名：Journal of Surgical Research
- 出版年：2008
- 出版时间：February 2008
- 年：2008
- 卷：144
- 期：2
- 页码：346
- 全文大小：119 K
文摘
We report a novel mutation detected in a 33 year old Chinese man with congenital bilateral absence of the vas deferens (CBAVD), a past history of pulmonary meliodosis infection and a past history of bronchiolitis obliterans organising pneumonia.
A novel splice site mutation in intron 6b (1001 + 5 G → A) in the homozygous state was identified, and was predicted to lead to inefficient splicing. He was also homozygous at all intragenic and flanking polymorphic markers. Quantitative realtime PCR analysis showed that there were 2 copies of the CFTR gene present, ruling out the possibility of a deletion, and strongly suggesting the possibility of uniparental isodisomy involving at least a part of chromosome 7.