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71.
C Vazquez G Anti?olo T Casals J Dapena J Elorz JL Seculi J Sirvent R Cabanas C Soler X Estivill 《Canadian Metallurgical Quarterly》1996,33(10):820-822
To study the severity of mutation G85E, located in the first membrane spanning domain of the CFTR gene, we studied the clinical features of 13 Spanish patients with cystic fibrosis (CF) carrying this mutation. G85E accounts for about 1% of Spanish CF alleles. One patient was homozygous G85E/G85E and the rest were compound heterozygotes for G85E and other mutations (delta F508 nine patients, delta I507 two patients, and 712-1G > T one patient). The characteristics of the pooled G85E/any mutation group were compared with those of 30 delta F508 homozygotes. Mean age at diagnosis and percentage of ideal height for age were higher in the G85E/any mutation group (4.2 (SD 4.7) v 2.4 (SD 2.3), p < 0.05, and 102.8 (SD 4.7) v 97.8 (SD 4.1), p < 0.01), both probably related to the greater prevalence of pancreatic sufficiency (70% v 0%, p < 0.01). The G85E homozygote was pancreatic sufficient. Sweat sodium levels were slightly higher, and salt loss related problems more frequent, in the G85E/any group. Two of the G85E patients died of respiratory failure aged 6 and 14 years. Striking discordance in the phenotype was observed in two pairs of sibs, one of them dizygotic twins, suggesting that factors, genetic and environmental, other than CFTR genotype are important in determining CF phenotype. 相似文献
72.
The synthesis of chitosan methylcarbamate (ChMC) and ethylcarbamate (ChEC) is described by using a new methodology. Polymers with substitution degrees up to 63% for ChEC and 68.5% for ChMC were obtained. Derivatives with lower substitutions were acid soluble but those with higher ones were completely insoluble. This could be due to the loss in hydrophilic sites when the substitution degree increases. The reaction conditions and degree of substitution obtained for both derivatives were also described. A complete chemical characterization was carried out by spectroscopic techniques. The thermal degradation of chitosan and derivatives were studied in the range 25–500°C and both derivatives were shown to be thermally less stable than chitosan. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2742–2747, 2002 相似文献
73.
Nuria Forcada Miquel Casals Alba Fuertes Marta Gangolells Xavier Roca 《Automation in Construction》2010,19(4):458-474
Researchers often have to go to multiple information sources in order to identify high-quality, time-critical information. Due to the dynamic and unstructured nature of research results, they are faced with such problems as distributed sources and inter-disciplinary differences in terminology that prevent them from accessing the information they need. This paper presents the System for Active Knowledge Management (SAKM), a web-based system that addresses these problems by supporting effective information search and analysis, and by enhancing communication and collaboration among researchers.The system was implemented in the underground construction field, which has experienced tremendous growth and is facing increasingly complex and challenging research issues.Preliminary testing suggested that a tool like the SAKM could improve the information transfer of research results. The validation stage confirmed that the system met the requirements of the initially defined scenarios. 相似文献