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The frequency of BRCA1 and BRCA2 mutations in women with breast cancer varies according to the age at diagnosis, family history of cancer, and ethnicity/country of origin. We set out to estimate the frequency of seven previously described founder mutations in BRCA1 and BRCA2 in all eligible French Canadian women diagnosed with invasive breast cancer at one Montreal hospital over a 20-month period. One hundred and ninety-two patients were eligible and 127 (66.2%) provided blood for genetic testing. We identified 4 women who carried a founder mutation (3.1%, 95% confidence interval 0.9-7.9%) in this population. Interestingly, all the mutations were in BRCA2. The mean age at diagnosis for mutation carriers was 51.2 years (range 49.1-53.5). Two of these 4 cases were lobular invasive carcinomas and 2 were ductal carcinomas, histological grade 1 or 2. Despite a small tumor size (< or =20 mm), axillary nodal involvement was present in 3 women. Estrogen receptors were strongly expressed in all cases. Two of the 4 cases reported a strong family history of breast cancer, but a family history of site-specific breast cancer was a relatively poor indicator of the presence of BRCA2 mutations. The absence of BRCA1 mutations may be a result of chance, but may also reflect different geographical origins of the most common BRCA1 mutations within the French Canadian population.  相似文献   
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AIM: Non-bacterial prostatitis is difficult to manage with conventional treatment. This study was undertaken to evaluate the therapeutic effect of transurethral needle ablation (TUNA) on men with chronic inflammatory non-bacterial prostatitis. METHODS: Thirty-two patients with non-bacterial prostatitis (type IIIa) were treated with TUNA. The TUNA procedure, which uses radiofrequency energy, heats the prostate tissue to approximately 90-110 degrees C over a 5-min period. Evaluation consisted of a prostatitis symptom severity score chart, the monitoring of the leukocyte count in the expressed prostatic secretion (EPS) and a subjective global assessment. RESULTS: The decrease in the prostate symptom severity score chart at 3 and 6 months compared with the baseline assessment was statistically significant. Analysis of the leukocyte levels in the EPS in 14 patients was available. All 14 patients had a decrease in the EPS leukocyte count 3 months after treatment. However, six of these men (43%) still had EPS leukocyte levels above the normal indices (>10 white blood cells per high-power field). A second session of TUNA on these partial responders resulted in three of the six men obtaining a normal EPS leukocyte count. At 6 months following treatment, complete, partial and poor improvement in terms of subjective global assessment were noted in 60, 35 and 5% of patients, respectively. No major complications, including those of sexual dysfunction or retrograde ejaculation, were noted in this cohort. CONCLUSIONS: Transurethral needle ablation appears to be an easy, safe and effective treatment for men with chronic inflammatory non-bacterial prostatitis.  相似文献   
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Pediatric airway obstruction due to anomalies of the course of the innominate artery may produce respiratory distress. MR imaging of the trachea was performed after bronchoscopy on forty-one children with congenital tracheal stenosis. Bronchoscopy only allows the evaluation of the lumen of the trachea, and the degree and location of collapse, and it may be difficult to determine the etiology of the tracheal narrowing. In eighteen out of the forty-one patients MR imaging showed a compression of the trachea by the innominate artery. The MR imaging diagnoses were subsequently compared for accuracy with the diagnoses determined by direct surgical observations. MR imaging of the trachea, the surrounding tissue and vessels allows the evaluation of the cause of tracheal compression and the degree and location of collapse. For evaluation of the cause of airway obstruction, MRI is an ideal method depicting detailed anatomic structure without employing ionizing radiation or intravenous contrast medium.  相似文献   
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Summary The effects of single doses of the beta1-receptor antagonist metoprolol (40 mg orally), propranolol (40 mg orally) and placebo were compared on furosemide-stimulated plasma renin activity (PRA) in seven healthy subjects. In the placebo studies, PRA increased by 0.59±0.18 ng×ml–1×h–1 60 minutes after intravenous administration of 30–60 mg furosemide. After propranolol and metoprolol, the corresponding increases in PRA were significantly less pronounced amounting to 0.16±0.06 and 0.24±0.08 ng×ml–1×h–1, respectively. The resting heart rate was reduced to the same extent after the two beta-blockers, which means that the two drugs had been given in equipotent beta1-receptor blocking doses. It is suggested that the release of renin from the kidney may partly be mediated via an adrenergic beta1-receptor.Metoprolol (piNN)=H 93/26=CGP 2175  相似文献   
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燃煤烟道蜂窝净化剂除氟效果的研究   总被引:2,自引:1,他引:2  
针对中国燃煤污染氟中毒分布范围广病情严重的特点,在民用炉灶烟道内装入蜂窝状净化剂除氟措施的可行性进行了初步的探讨。其中对蜂窝状净化剂的材料配比、孔径大小、长度、吸附容量、安装方法的堵塞问题进行了较详细的实验。在现场进行了除氟效果的验证、实验结果表明,烟道内装入蜂窝状净化剂除氟效率为89.1%,同时对煤烟中的SO2也有一定的去除效果,除硫率为53.6%。此项措施与改炉改灶措施结合推广运用,将有助于燃煤氟硫污染问题的解决。  相似文献   
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Iversen  PO; Rodwell  RL; Pitcher  L; Taylor  KM; Lopez  AF 《Blood》1996,88(7):2634-2639
Juvenile myelomonocytic leukemia (JMML) is a malignancy that almost inevitably leads to death before adulthood. Chemotherapy has given disappointing results and a substantial number of patients relapse after bone marrow transplantation. A salient feature of this disease is that the JMML cells produce granulocyte-macrophage colony-stimulating factor (GM-CSF) spontaneously and survive and proliferate without exogeneous GM-CSF. Furthermore, JMML cells are hypersensitive to GM-CSF with addition of this cytokine leading to enhanced proliferation. We have recently generated a human GM-CSF analogue, E21R, that acts as a complete and selective GM-CSF receptor antagonist. We have now tested this molecule as a potential new agent to control the leukemic cell load in JMML with particular emphasis on its role in JMML cell survival. We found that E21R inhibited the spontaneous growth of JMML cells in vitro and caused their apoptosis in a dose- and time-dependent manner in seven of seven cases. In contrast, neither a neutralizing anti-GM-CSF monoclonal antibody (MoAb) nor a selective interleukin-1 (IL-1) receptor antagonist affected JMML cell survival. Furthermore, the apoptotic effect of E21R was seen even in the presence of interleukin-1 beta and tumor necrosis factor-alpha, which have also been implicated in the pathogenesis of JMML. The inhibitory effects of E21R on JMML cell growth and viability offer a novel approach to therapy in this lethal childhood leukemia.  相似文献   
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