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71.
PL Zeitlin 《Canadian Metallurgical Quarterly》1998,19(3):515-25, vi-vii
There are over 600 unique mutations in the cystic fibrosis (CF) gene that can be classified in five general categories with respect to specific defect. Through basic research into the genetic and physiologic consequences of these mutations, it has become possible to design genotype-specific therapeutic strategies. New pharmaceutical agents are under development for the rescue of defective cystic fibrosis transmembrane conductance regulator mRNA or protein. Some of these compounds are undergoing study in CF patients in Phase I clinical trials. This article evaluates the current research directed at translating a basic molecular understanding of the disease into innovative new treatments. 相似文献
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F Maisano L Torracca M Oppizzi PL Stefano G D'Addario G La Canna M Zogno O Alfieri 《Canadian Metallurgical Quarterly》1998,13(3):240-5; discussion 245-6
OBJECTIVE: Repair of mitral regurgitation (MR) is more demanding in case of prolapse of the anterior leaflet, posterior leaflet with calcified annulus, or prolapse of both leaflets. We evaluated a repair which consists of anchoring the free edge of the prolapsing leaflet to the corresponding free edge of the facing leaflet: the 'edge-to-edge' (E-to-E) technique. The correction results in a double orifice valve when the prolapse is in the middle portion of the leaflet and in a smaller valve orifice when the prolapse is close to a commissure. METHODS: Out of 432 patients with MR submitted to valve repair between January 1991 and September 1997, 121 (mean age 56 +/- 15.8 years) underwent E-to-E correction. The most prevalent etiology was degenerative disease (82 patients, 68%). The mechanism of MR was anterior leaflet prolapse (61 patients), posterior leaflet prolapse (24 patients), prolapse of both leaflets (28 patients) and other complex mechanisms (8 patients). In 72 patients, a double orifice was created, the paracommissural repair was done in 49 patients. RESULTS: Hospital mortality was 1.6%. Overall survival was 92 +/- 3.1% at 6 years with 95 +/- 4.8% freedom from reoperation. Mortality was unrelated to the type of repair. Mitral stenosis was never observed after the correction. At the follow-up (mean 2.2 +/- 1.5 years), all patients but 15 are class I or II. Symptoms at the follow-up are not related to residual MR. CONCLUSIONS: Midterm results of this alternative repair technique are promising, considering the high prevalence of complex anatomical lesions. The technique is simple, easily reproducible and rapidly feasible also when mitral exposure is suboptimal. 相似文献
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A 36-year-old male with unspecific symptoms and normal physical examination had right cardiac enlargement on chest X-ray. Two-dimensional echocardiographic and thoracic computed tomography demonstrated an intracardiac mass. The tumor was surgically resected and the pathological diagnosis was mixed-type epicardial hemangioma. We discuss this case and review the literature. 相似文献
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PL Choyke MM Walther JR Wagner W Rayford JC Lyne WM Linehan 《Canadian Metallurgical Quarterly》1997,205(3):767-771
Using a highly sensitive allele-specific PCR amplification method, we have previously shown that maternal cells could be detected in all 10 cord bloods tested. This raised the question of whether maternal cells are released into cord blood during the process of delivery or whether they are already present during pregnancy. We have now used the same PCR method to detect the presence of maternal cells in nine fetal blood samples collected at different gestational ages. Maternal cells were detected in eight samples obtained between 24 and 35 weeks of gestation. They were estimated to amount between 10(-4) and 10(-5) of nucleated fetal blood cells. In two cases mononuclear and polymorphonuclear cell fractions were separated by Ficoll gradient centrifugation and maternal cells were detected as comparable levels in both fractions. Maternal cells could not be detected in the one fetal blood sample obtained at 20 weeks of gestation, suggesting that maternal cells could appear at detectable levels in fetal blood during the third trimester of pregnancy. These results are discussed in terms of materno-fetal immune tolerance and of transmission of viruses (and more specifically of the human immunodeficiency virus) from mother to child. 相似文献
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To demonstrate the presence of independent genetic determinants of multiple correlated tooth dimensions from twin data, a multivariate analysis was performed on the covariance matrices of monozygotic and dizygotic within-pair differences for mesiodistal and buccolingual dimensions of 28 teeth of the secondary dentition. The results provided strong evidences that the correlation among tooth dimensions is primarily genetic in origin, probably attributable to the pleiotropic action of either independent genes or groups of genes. Among the genetic factors that were identified, one appeared to affect the maxillary teeth in general while a second influenced primarily the anterior mandibular teeth. There was a striking tendency for homologous measurements on the right and left sides to be associated with the same genetic factor. In contrast, genetic determination of the maxillary and mandibular dentition seemed to be independent of each other, and a wider range of genetic factors were found to influence the mandibular than the maxillary teeth, suggesting that a differential degree of evolutionary stability may have been achieved in the teeth of the two jaws. 相似文献