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PO Chappuis N Hamel A-J Paradis J Deschênes A Robidoux C Potvin J Cantin P Tonin P Ghadirian WD Foulkes 《Clinical genetics》2001,59(6):418-423
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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Effective interventions for the prevention of mother-to-child transmission (MTCT) of human immunodeficiency virus (HIV) infection now exist and where these are fully implemented, MTCT rates of 1-2% are achievable. Virtual elimination of HIV in infants by 2010 has therefore been set as a goal for European region. There are, however, many challenges. The eastern European and central Asian countries are facing the fastest growing HIV epidemic in the world with a dramatic increase in numbers of HIV-positive pregnancies and new HIV infected infants. Nevertheless, the prevalence of HIV among pregnant women is still relatively low and the high coverage with antenatal care provide an opportunity to decrease the number of new HIV cases among infants to minimal level. The challenge is to move national strategies for prevention of HIV infection among infants from a disease-focused vertical approach towards effective preventive interventions integrated into mother-child health (MCH) and reproductive health services. The scaling up of prevention interventions among those most at risk and hard-to-reach women are key priority actions. This goes beyond clinical care and needs to include a range of care and protection issues, both in health institutions and in the community. The WHO Regional Office for Europe, together with other UNAIDS co-sponsors, has developed a regional strategic framework for prevention of HIV infection in infants. The strategic framework promotes a comprehensive approach comprising the four interrelated elements: (1) primary prevention of HIV infection; (2) prevention of unintended pregnancies among HIV-infected women; (3) prevention of HIV transmission from HIV-infected women to their children; (4) provision of care and support to HIV-infected women, their infants and families. Implementation of all four pillars of the strategic framework would help European countries to achieve the goal of virtual elimination of HIV infection in infants. 相似文献
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A representative sample of 68-year-old men in the Swedish city of Malm?, were interviewed in detail regarding their social network, social support and social influence as a part of an extensive examination of their health status. Emphasis in this paper is put on the definition and operationalization of different social network, social support and social influence characteristics included in a tentative model. The reliability and validity of the different social network, social support and social influence indices are analyzed and discussed. The relation between the different indices and marital status and social class are analyzed implying that men living alone and men in the lowest social class have the most insufficient social network, social support and social influence. The indices were then used in an analysis of nervous problems and insomnia. Social anchorage, social participation and contact frequency, all subconcepts of social network, had independent associations with mental health in this cross-sectional study. The addition of the social network, social support and social influence indices to social class and marital status gives a more differentiated and thereby a more valid picture of the association between the psychosocial environment and this type of mental health problems. 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
67.
Impact of ramipril in patients with evidence of clinical or subclinical peripheral arterial disease. 总被引:14,自引:2,他引:12
J Ostergren P Sleight G Dagenais K Danisa J Bosch Yi Qilong S Yusuf 《European heart journal》2004,25(1):17-24
AIMS: The aim of this study was to assess the prognostic importance of peripheral arterial disease (PAD) as evaluated by ankle blood pressure index (ABI), and the impact of ramipril on the prevention of major cardiovascular events in PAD patients included in the Heart Outcomes Prevention Evaluation (HOPE) study. METHODS AND RESULTS: Patients were randomized to treatment with ramipril or placebo and followed for 4.5 years. Ankle brachial blood pressure index was measured, mainly by digital palpation of the foot pulse, at baseline in 8986 patients. The ABI was subnormal (< or =0.9) in 3099 patients and normal in 5887 patients. A low ABI was a strong predictor of morbidity and mortality during the follow-up even in patients with no clinical symptoms of PAD (n=6769). This was so for the primary outcome of the study; ABI>0.9:13.1%, 0.6-0.9: 18.2% and <0.6: 18.0% (P<0.0001) and for mortality from all causes: in those with a normal ABI it was 8.5%, in those with ABI >0.6-0.9, 12.4% and 14.2% in those with an ABI lower than 0.6 (P<0.0001). Ramipril reduced the risk of clinical outcomes in those with a clinical history of PAD as well as in the patients with subclinical PAD. CONCLUSIONS: The ABI even if measured simply by palpation of the foot arteries is a strong predictor for future cardiovascular events and for all-cause mortality. Ramipril prevented major cardiovascular events in patients with clinical as well as subclinical PAD. 相似文献
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PO Dr. T. Vogl C. Wilimzig U. Hofmann D. Hofmann S. Dresel J. Lissner 《Pediatric radiology》1991,21(2):89-93
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