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81.
82.
Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder among Caucasians and is caused by abnormalities in the cystic fibrosis transmembrane conductance regulator gene (CFTR). CFTR gene encodes a chloride channel that regulates secretion in many exocrine tissues especially pancreatic and pulmonary tissues. The clinical presentation of cystic fibrosis is highly variable with isolated CAVD (congenital absence of vas deferens) and/or typical pancreatic and pulmonary manifestations. Over 500 mutations in the CFTR gene have been described and vary among different geographic locations. The severity of clinical manifestations and specially the pulmonary disease is poorly correlated with genotype. It is interesting to collect clinical and genetical data by analysing a larger cohort of CF patients. These results are likely to improve our understanding of the physiopathology of CF and the genetic counselling; particular biochemical defect could lead to more specific treatments in the future. From our 110 patients selected in Champagne-Ardenne country, we analysed the entire coding sequence of CFTR gene and detected 95% of CF mutations and in fact, 89.5% if we include the CAVD patients; 59.4% of CF mutations were detected for these patients. Three new mutations have been here reported. We found numerous CF mutations with a large distribution throughout the gene. Nevertheless, three exons are mainly involved: 10, 11 and 21. Relationships between the genotype and phenotype are difficult to assess. 相似文献
83.
84.
J Barreto J Liljestrand C Palha de Sousa S Bergstr?m B B?ttiger G Biberfeld F De la Cruz 《Canadian Metallurgical Quarterly》1993,25(6):685-688
The seroprevalence of HIV-1 and HIV-2 among pregnant women in Maputo, the capital of Mozambique, was compared between the years 1982/83, 1988 and 1990. None of the 432 serum samples collected in 1982/83 was positive for HIV antibodies whereas in 1988 the HIV-1 and HIV-2 seroprevalence was 0.4% (2/500) and 0.6% (3/500), respectively, and in 1990 0.6% (12/2014) and 0.2% (4/2014), respectively. These results indicate that HIV infection has been introduced recently in Maputo and is spreading at a slow rate among women. 相似文献
85.
86.
A method of posterior mitral annulus remodeling is presented. The posterior annulus is divided into three segments, each segment encircled by a suture that is passed in a tourniquet. Coaptation of the leaflets can be achieved by tightening the tourniquets while the ventricle is being filled. This technique is simple and quick, avoids the use of foreign material, and requires less expertise and judgment than traditional annuloplasties. 相似文献
87.
Pb1–x
Ca
x
[(Co0.5W0.5)0·05Ti0.95]O3 ceramics with x = 0.24, 0.30 and 0.35, are prepared by a solid state reaction of oxides. Deviations from nominal chemical compositions and formation of segregated phases different from modified lead titanate perovskites, are studied. Pyro- and non-pyroelectric currents excited in the material by a thermal wave are investigated and related to mobility of electrical charges in the materials. 相似文献
88.
The conclusions are put forward that are adopted by a discussion group preparing the framework for a limitation policy of the radon problem in Belgium. Existing and future situations are treated in a coherent policy that is adequate for practical implementation. An action level is defined, together with a hierachy of levels for new constructions. The decision logic for the acceptance of building materials is explained. 相似文献
89.
J. Buytaert L. De Boeck F. Verbeure
C. Bricman
F. Cao C. De Clercq L. Etienne B. Goorens J. Lemonne F. Stichelbaut S. Tavernier G. Van Beek C. Vander Velde W. Van Doninck L. Van Lancker J. WickensE. Daubie
F. Defontaines F. Grard J. Kesteman O. Pingot C. Poiret 《Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment》1991,310(3):596-606The layout and construction of the muon drift chambers equipping the end caps of the DELPHI detector are described. The performance of this forward muon detection system, determined from cosmic ray tests and data collected during the first year of LEP operation, is presented. 相似文献
90.
J G De Nobel F M Klis A Ram H Van Unen J Priem T Munnik H Van Den Ende 《Yeast (Chichester, England)》1991,7(6):589-598
To study cell-cycle-related variations in wall permeability of Saccharomyces cerevisiae, two approaches were used. First, an asynchronous culture was fractionated by centrifugal elutriation into subpopulations containing cells of increasing size. The subpopulations represented different stages of the cell cycle as judged by light microscopy. Cell wall porosity increased when these subpopulations became enriched with budded cells. Secondly, synchronous cultures were obtained by releasing MATa cells from alpha-factor induced G1-arrest. These cultures grew synchronously for at least two generations. The cell wall porosity increased sharply in these cultures, shortly before buds became visible and was maximal during the initial stages of bud growth. It decreased in cells which had completed nuclear migration and before abscission of the bud had occurred. The porosity reached its lowest value during abscission and in unbudded cells. We examined the incorporation of mannoproteins into the wall during the cell cycle. SDS-extractable mannoproteins were incorporated continuously. However, the incorporation of glucanase-extractable mannoproteins, which are known to affect cell wall porosity, showed cyclic oscillations and reached its maximum after nuclear migration. This coincided with a rapid decrease in cell wall porosity, indicating that glucanase-extractable mannoproteins might contribute to this decrease. 相似文献