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排序方式: 共有219条查询结果,搜索用时 140 毫秒
1.
2.
Identification of 12 novel mutations in the CFTR gene 总被引:11,自引:0,他引:11
Audrezet M.P.; Mercier B.; Guillermit H.; Quere I.; Verlingue C.; Rault G.; Ferec C. 《Human molecular genetics》1993,2(1):51-54
Over 200 mutations, besides the deletion 相似文献
3.
Gil Bellis Marie-Hélène Cazes Alain Parant Maryse Gaimard Cécile Travers Evelyne Le Roux Sophie Ravilly Gilles Rault 《Journal of cystic fibrosis》2007,6(3):179-186
BACKGROUND: In 1992 France set up a national cystic fibrosis observatory (Observatoire national de la mucoviscidose, ONM) to monitor the state of health of patients on an annual basis. Using the ONM data, this study estimates the main indicators for life expectancy and assesses the total number of cystic fibrosis patients. METHODS: The data for the years 1994 to 2003 are divided into 3-year periods. Life tables are drawn up for these periods, from which mean and median lengths of life are determined. Using the most recent life table, the number of births in 2003 and the incidence of the disease, the total population of patients can be estimated, assuming a stationary population. RESULTS: In 2001-2003, life expectancy at birth of patients registered with the ONM was 39.1 years and median length of life was 36.4 years. These results, substantially better than those of 1994-1996, are linked to improved conditions of patient inclusion in the ONM database, to improvements in their healthcare, but also to the limitations of the life tables. Based on the 2003 data, the total theoretical number of patients is 6490, and coverage by the ONM database is thus 63.2%. CONCLUSIONS: These provisional results demonstrate the need to convert the ONM observatory into a registry providing exhaustive coverage of all patients. 相似文献
4.
Lipidic nanoparticles (NP), formulated from a phase inversion temperature process, have been studied with chemometric techniques to emphasize the influence of the four major components (Solutol®, Labrasol®, Labrafac®, water) on their average diameter and their distribution in size. Typically, these NP present a monodisperse size lower than 200 nm, as determined by dynamic light scattering measurements. From the application of the partial least squares (PLS) regression technique to the experimental data collected during definition of the feasibility zone, it was established that NP present a core-shell structure where Labrasol® is well encapsulated and contributes to the structuring of the NP. Even if this solubility enhancer is regarded as a pure surfactant in the literature, it appears that the oil moieties of this macrogolglyceride mixture significantly influence its properties. Furthermore, results have shown that PLS technique can be also used for predictions of sizes for given relative proportions of components and it was established that from a mixture design, the quantitative mixture composition to use in order to reach a targeted size and a targeted polydispersity index (PDI) can be easily predicted. Hence, statistical models can be a useful tool to control and optimize the characteristics in size of NP. ©2010 Wiley-Liss, Inc. and the American Pharmacists Association J Pharm Sci 99:4603–4615, 2010 相似文献
5.
In a previous publication, mass spectrometry was applied to the study of several ions formed by dissociative ionization of ethanes, partially substituted with fluorine and chlorine, and to the determination of the fragmentation pattern of each related compound. The aim of the present investigation was to extend this mass spectral study (70 eV and low ionization energy) to a group of closely related analogs, hydrofluorocarbons (HCFCs), HFCs, chlorinated fluorocarbons, and chlorinated hydrocarbons—halogenated methane, ethane, and propane molecules—to make an attempt to predict the relative bond strength and then the behavior—metabolic pathway and tropospheric degradation—of new HCFCs and HFCs. 相似文献
6.
Fardel O Escande F Rault B Drenou B Lebescot J Fauchet R 《International journal of oncology》1995,7(2):377-381
Expression of P-glycoprotein (P-gp), the multidrug resistance gene product, has previously been shown to be downregulated during differentiation of normal haematopoietic cells. In order to determine whether such a regulation also occurs in leukemic cells, we have investigated the relevance of differentiation levels to P-gp expression in multidrug-resistant leukemia K562R/7 cells and in parental drug-sensitive K562 cells. These leukemic cells were exposed to hemin and sodium butyrate, two known inducers of erythroid differentiation. Analysis of hemoglobin-synthesizing cells indicated that hemin induced both K562R/7 and K562 cells to differentiate into erythroid cells while sodium butyrate led to hemoglobin synthesis in only K562 cells. Northern blotting and immunolabelling experiments revealed elevated levels of MDR1 mRNAs and P-gp in both untreated and hemin-treated K562R/7 cells while P-gp expression was not detected in both uninduced and hemin-induced K562 cells. Flow cytometric analysis of cellular doxorubicin retention demonstrated that K562R/7 cells poorly accumulated the anticancer drug regarless their level of differentiation. These results therefore suggest that erythroid differentiation of leukemic drug-resistant K562R/7 cells in response to hemin treatment did not result in major alteration of P-gp expression and activity. 相似文献
7.
D E Thurston D S Bose P W Howard T C Jenkins A Leoni P G Baraldi A Guiotto B Cacciari L R Kelland M P Foloppe S Rault 《Journal of medicinal chemistry》1999,42(11):1951-1964
Several A-ring-modified analogues of the DNA-binding antitumor agent DC-81 (5) have been synthesized in order to study structure-reactivity/cytotoxicity relationships. For two molecules (23 and 30) the modifications required the addition of a fourth ring to give the novel dioxolo[4,5-h]- and dioxano[5,6-h]pyrrolo[2,1-c][1, 4]benzodiazepin-11-one (PBD) ring systems, respectively. Another three analogues (34, 38, and 48) have the native benzenoid A-ring replaced with pyridine, diazine, or pyrimidine rings to give the novel pyrrolo[2,1-c][1,4]pyridodiazepine, pyrrolo[2,1-c][1, 4]diazinodiazepine, and pyrrolo[2,1-c][1,4]pyrimidinodiazepine systems, respectively. The other new analogues (16a,b) have extended chains at the C8-position of the DC-81 structure. During the synthesis of these compounds, a novel tin-mediated regiospecific cleavage reaction of the dioxole intermediate 18 was discovered, leading to the previously unknown iso-DC-81 (20). In addition, an unusual simultaneous nitration-oxidation reaction of 4-(3-hydroxypropoxy)-3-methoxybenzoic acid (8) was found to produce 3-(4-carboxy-2-methoxy-5-nitrophenoxy)propanoic acid (9), a key intermediate, in high yield. In general, the results of cytotoxicity and DNA-binding studies indicated that none of the changes made to the A-ring of the PBD system significantly improved either binding affinity or cytotoxicity in comparison to DC-81. This result suggests that the superior potency of natural products such as anthramycin (1), tomaymycin (2), and sibiromycin (3) is due entirely to differences in C-ring structure, and in particular exo or endo unsaturation at the C2-position and C2-substituents containing unsaturation. This study also provided information regarding the influence of A-ring substitution pattern on the relative stability of the interconvertible N10-C11 carbinolamine, carbinolamine methyl ether, and imine forms of PBDs. 相似文献
8.
9.
Rault Frédérick Briant Anaïs R. Kamga Hervé Gaberel Thomas Emery Evelyne 《Neurosurgical review》2022,45(3):2385-2399
Neurosurgical Review - Management of lumbar spinal stenosis (LSS) represents the first cause of spinal surgery for the elderly and will increase with the aging population. Although the surgery... 相似文献
10.
P D Kroboth R B Smith R Rault M R Silver M I Sorkin J B Puschett R P Juhl 《Clinical pharmacology and therapeutics》1985,37(4):453-459
The kinetics of temazepam, 30 mg, were evaluated in 11 patients with end-stage renal disease. Age ranged from 18 to 65 years. On two occasions separated by 1 week, single oral 30 mg doses of temazepam were given once with water (TM) and once with 3600 mg aluminum hydroxide gel (TM + AHG). There were no significant differences in the maximum plasma concentration, the time to reach maximum concentration, or elimination rates between TM and TM + AHG dosing. In approximately half the subjects there were secondary temazepam peak concentrations. In the remaining subjects, temazepam elimination was biphasic, with the terminal t1/2 ranging from 11 to 77 hours. There was a lag time before absorption in all subjects. The percent free temazepam in plasma from dialysis subjects ranged from 4.4% to 8.8% (mean = 5.9%). Compared with literature reports of subjects with normal renal function, the maximum plasma concentration was lower and the percent free temazepam was higher in dialysis subjects. When sedation score was plotted against plasma temazepam concentration, there was clockwise hysteresis consistent with tolerance or adaptation to effects of the drug. Thus aluminum hydroxide gel does not affect temazepam absorption. The clinical significance of the low plasma concentrations and high free temazepam fraction in dialysis subjects is uncertain. 相似文献