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101.
Predictive testing for BRCA1 and 2 mutations: a male contribution.   总被引:1,自引:0,他引:1  
BACKGROUND: Management strategies for women carrying BRCA1 and 2 mutations are becoming clearer and predictive testing for a known family mutation is commonly undertaken. Implications for men are not as clear and they participate less frequently. PATIENTS AND METHODS: Twenty-six men from 10 extended families underwent predictive testing. Their motivation, reaction and outcome were studied. Subjects had appropriate pre- and post-test counselling. Informed consent was obtained before predictive testing for known deleterious mutations. DNA analysis followed standard procedures. RESULTS: Eighteen tested positive and eight negative. Four had adverse psychological reactions and three reneged on their commitments to impart results. The spouse of another man had an adverse psychological reaction to the disclosure of his positive result. Two, already suffering from prostate cancer, were phenocopies and paternal lineage transmission was unexpectedly determined in another. Risk was removed from 33 offspring and confirmed for 56. CONCLUSIONS: Complex themes associated with genetic testing are confirmed and the spectrum extended. Men appear to understand the importance of participating in this process. Methods of avoiding adverse reactions merit further study along with other aspects of the process.  相似文献   
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The purpose of this study was to assess the effects of changes in stride length on the symptoms of exercise-induced muscle damage (EIMD) during a repeated bout of downhill running in a group of 18 men and women. Muscle tenderness, plasma creatine kinase activity (CK) and maximal voluntary isometric force were measured before and after two downhill runs, with each run separated by 5 weeks. The first downhill run was at the preferred stride frequency (PSF). Participants were then randomly allocated to one of three sex-balanced groups with equal numbers of men and women: overstride (-8% PSF), understride (+8% PSF) and normal stride frequency for the second downhill run. Stride length had no effect (P>0.05) on muscle tenderness, CK or isometric peak force. Increases in muscle tenderness (P<0.001) and CK were lower (P<0.05) following the second downhill run, although there was no difference in the pattern and extent of the strength decrement between the two runs. There were also no differences (P>0.05) in muscle tenderness, CK or the relative strength loss between the men and the women. Results suggest that the symptoms of EIMD are unaffected by gender and small alterations to the normal stride pattern during constant velocity downhill running. The observation that muscle tenderness and CK were reduced following a repeated bout of similar eccentric exercise is consistent with the phenomenon known as the 'repeated bout effect' of muscle damage.  相似文献   
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应用改进的眼震图检查先天性眼球震颤   总被引:2,自引:0,他引:2  
目的评价改进后的眼震图对先天性眼球震颤波形的分析,为其手术治疗提供较为精确的量化标准.方法改进电生理仪的视网膜电图(EOG)程序,分别记录68例患者33cm原在位、右5°、10°、15°、20°,左5°、10°、15°、20°,3m原在位及闭眼的波形,并对其中28例手术患者术前和术后的眼震图进行比较.结果68例患者中,跳动型48例,其中水平跳动46例,垂直跳动2例;水平钟摆型20例.跳动型中,有代偿头位的40例,钟摆型无明显代偿头位.28例手术患者中,水平跳动型26例,水平钟摆型2例.26例跳动型患者均有中间位和代偿头位.术后20例代偿头位消失,6例代偿头位在左5°~10°.按震频、振幅、震强的分组中,处于中等震频、振幅、震强范围内的多见.结论改进的眼震图可以对眼震的振幅、震频、震强、中间位进行量化的检测,从而指导其治疗.  相似文献   
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Antifungal activity of natural products is being studied widely. Saponins are known to be antifungal and antibacterial. We have isolated eight steroid saponins from Tribulus terrestris L. , namely TTS-8, TTS-9, TTS-10, TTS-11, TTS-12, TTS-13, TTS-14 and TTS-15. TTS-12 and TTS-15 were identified as tigogenin-3-O-β-D-xylopyranosyl(1→ 2)-[-β-D-xylopyranosyl( 1 → 3 ) 3-β- D-glucopyranosyl ( 1 → 4 )- 1- α-L-rhamnopyranosyl ( 1 → 2 ) 3-β-D-galactopyranoside and tigogenin-3-O-β-D-glucopyranpyranosyl(1→2)-[-β-D-xylopyranosyl(1→ 3)3-β-D-glucopyranosyl(1→4)-β-D-galactopyranoside, respectively. The in vitro antifungal activities of the eight saponins against six fluconazole-resistant yeasts, Candida albicans, Candida glabrata, Candida para psilosis , Candida tropicalis , Candida krusei , and Cryptococcus neo f ormans were studied using microbroth dilution assay. The results showed that TTS-12 and TTS-15 were very effective against several pathogenic candidal species and C. neoformans in vitro. It is noteworthy that TTS-12 and TTS-15 were very active against fluconazole-resistant C. albicans (MIC80 = 4.4, 9.4 mg/ml), C. neoformans (MIC80 =10.7, 18.7 mg/ml) and inherently resistant C. krusei (MIC80 =8.8, 18.4 mg/ml). So in vivo activity of TTS-12 in a vaginal infection model with fluconazole-resistant C. albicans was studied in particular. Our studies revealed TTS-12 also showed in vivo activities against fluconazole-resistant yeasts. In conclusion, steroid saponins TTS-12 and TTS-15 from Tribulus terrestris L. have significant in vitro antifungal activity against fluconazole-resistant fungi, especially TTS-12 also showed in vivo activity against fluconazole-resistant C. albicans.  相似文献   
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