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Identification of a gene that causes primary open angle glaucoma 总被引:3,自引:0,他引:3
EM Stone JH Fingert WL Alward TD Nguyen JR Polansky SL Sunden D Nishimura AF Clark A Nystuen BE Nichols DA Mackey R Ritch JW Kalenak ER Craven VC Sheffield 《Canadian Metallurgical Quarterly》1997,275(5300):668-670
Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies. 相似文献
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M Küchle A Amberg P Martus NX Nguyen GO Naumann 《Canadian Metallurgical Quarterly》1997,81(10):862-866
AIM/BACKGROUND: The pseudoexfoliation (PEX) syndrome is frequently associated with impairment of the blood-aqueous barrier. This study analysed if this might stimulate secondary cataract following cataract extraction. METHODS: This historical cohort study included 197 eyes of 197 patients (99 with and 98 without PEX) that underwent extracapsular cataract extraction with posterior chamber lens implantation (PMMA optic) between 1985 and 1991. Secondary cataract was defined as opacification of the axial posterior capsule and decrease of visual acuity by two or more lines. Mean follow up was 23.8 months. For statistical analysis, the Kaplan-Meier method and multivariate Cox regression analysis were used. RESULTS: Secondary cataract was observed within 24 months in 35% (SD 7%) of all eyes, and was significantly more frequent in eyes with PEX (45 (11)%) than in eyes without PEX (24 (9)%, p < 0.03). Eyes with diabetes mellitus (n = 32) showed a significantly lower frequency of secondary cataract (11 (11)%) than eyes without diabetes mellitus (39 (8)%, p < 0.01). The influences of sex, open angle glaucoma, type of cataract, surgeon, positioning of IOL, and phacoemulsification versus nuclear expression on secondary cataract did not reach statistical significance. CONCLUSION: The higher frequency of secondary cataract could be considered as another potential complication of cataract surgery in eyes with PEX. 相似文献
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D. Dietrich ÖVE H. Reiter Th. Sauter H. -J. Schweinzer 《e & i Elektrotechnik und Informationstechnik》1997,114(5):225-230
The past decade may be regarded as the phase of the fundamental developments in fieldbus systems that were based on the OSI model. Today we are entering a second stage. It is the objective of this issue to present the current state and where the further developments will lead to. This introductory article is intended to give an overview on the subject. 相似文献
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H Lee KB Idler P Swanson JJ Aparicio KK Chin JP Lax M Nguyen T Mann G Leckie A Zanetti 《Canadian Metallurgical Quarterly》1993,196(1):57-69
Seven cardiac electrophysiology stimulators from four manufacturers (Biotronik, Bloom, Digitimer and Medtronic) in common current use are reviewed. The stimulators differ in the features provided and the design adopted to achieve these features. The number of output channels ranges from one to four, the number of extra-stimuli available ranges from two to six, and these can be delivered as a variety of sequences. Some of the stimulators (Digitimer and Bloom) are modular while others (Biotronik and Medtronic 532 series) are of an integrated design comprising a single physical unit. The design of the Medtronic EP-2 has both integrated and modular characteristics. The features of the stimulators associated with input, output, control and the user interface are specifically reviewed. The features are also compared against the published recommendations of the American Heart Association. In addition, a summary of stimulator user comments from a number of electrophysiology centres is presented. All of the stimulators fulfil, or are close to fulfilling, basic electrophysiological requirements, but some provide more complex facilities such as would be required by specialist centres. 相似文献
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A. J. Kalkman H. P. M. Pellemans T. O. Klaassen W. Th. Wenckebach 《Journal of Infrared, Millimeter and Terahertz Waves》1996,17(3):569-577
The low temperature lifetime of electrons excited in the 2p?1 donor level of n-GaAs has been studied in a far-infrared pump-probe experiment. The measurement has been carried out using a pulsed far-infrared molecular gas laser working at a wavelength of 292µm, with the sample in a magnetic field of 5.1 T, resonant with the 1so?2p?1 transition. Two FIR pulses are sliced from one FIR-laser pulse by means of optical switching techniques using two Q-switched Nd:YAG lasers. The first pulse is used to saturate the transition, while the second pulse probes the return of the population in the excited state towards thermal equilibrium as a function of the time delay after the excitation pulse. The value of 350±50 ns found for the lifetime falls in line with CW saturation results on materials with other doping concentrations. 相似文献