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Kei Kamide Yoshihiro Kokubo Hironori Hanada Junko Nagura Jin Yang Shin Takiuchi Chihiro Tanaka Mariko Banno Yoshikazu Miwa Masayoshi Yoshii Tetsutaro Matayoshi Hisayo Yasuda Takeshi Horio Akira Okayama Hitonobu Tomoike Yuhei Kawano Toshiyuki Miyata 《Hypertension research》2006,29(4):243-252
Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. Here, we have studied whether genetic variations in HDS11B2 are implicated in essential hypertension in Japanese hypertensives and the general population. By sequencing the entire coding region and the promoter region of HDS11B2 in 953 Japanese hypertensives, we identified five missense mutations in 11 patients (L14F, n = 5; R74H, n = 1; R147H, n = 3; T156I, n = 1; R335H, n = 1) and one novel frameshift mutation (4884Gdel, n = 1) in a heterozygous state, in addition to 19 genetic variations. All genetic variations identified were rare, with minor allele frequencies less than 0.005. Four of 12 patients with the missense/frameshift mutations showed renal failure. Four missense mutations, L14F, R74H, R147H, and R335H, were successfully genotyped in the general population, with a sample size of 3,655 individuals (2,175 normotensives and 1,480 hypertensives). Mutations L14F, R74H, R147H, and R335H were identified in hypertensives (n = 6, 8, 3, and 0, respectively) and normotensives (n = 8, 12, 5, and 0, respectively) with a similar frequency, suggesting that these missense mutations may not strongly affect the etiology of essential hypertension. Since the allele frequency of all of the genetic variations identified in this study was rare, an association study was not conducted. Taken together, our results indicate that missense mutations in HSD11B2 do not substantially contribute to essential hypertension in Japanese. 相似文献
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Akihiko Bo Shinichi Imura Hironori Omori Yasuhiro Okumura Masao Ando Hisatoshi Baba Patrick White Al Zarnowski 《Journal of orthopaedic science》1997,2(5):301-312
The fit and fill of the femoral canal are critical to the success of cementless femoral stems in total hip arthroplasty. It
is difficult for conventional stems to provide a good fit and fill for the femora of patients with secondary osteoarthritis.
Based on measurements of 100 femora of these patients, we designed two types of Fukui Medical School (FMS) stems with a proximal
lateral flare that differed in the medial radius. We compared the fit and fill of the FMS stems with those of four conventional
stems, using computer simulation. The mean proximal fit and total fit of the FMS stems were 46% and 53% respectively, a significant
improvement compared with the other stems examined. The mean fill of FMS stems was 82% at the lower end of the lesser trochanter
and 84% at the upper end of the isthmus, values that were significantly higher than those of the other stems. Since September
1995, we have implanted FMS stems in 15 hips with secondary osteoarthritis. Radiographic evaluations showed that the canal
fill of the FMS stems was significantly greater in the proximal femur compared with other stems previously inserted at our
department.
A summary of this paper was presented at the 9th Symposium on Computer-Assisted Radiology; June 1995, Berlin, and at the 8th
International Symposium on Technology in Arthroplasty; September 1995, Puerto Rico. 相似文献
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Hisato Takagi Toshiyuki Tanabashi Norikazu Kawai Takuya Umemoto 《European journal of cardio-thoracic surgery》2007,32(2):400; author reply 400-400; author reply 401
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Objective To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.
Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.
Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.
Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease. 相似文献
Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.
Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.
Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease. 相似文献