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Usher syndrome: clinical findings and gene localization studies 总被引:3,自引:0,他引:3
William J. Kimberling Sandra L. H. Davenport Ira Priluck Valorie White Karen Biscone-Halterman Patrick E. Brookhouser Claes G. Mller Gunnar Lund Timothy J. Grissom Michael D. Weston 《The Laryngoscope》1989,99(1):66-72
The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized. 相似文献
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To evaluate use of a digital photostimulable phosphor imaging system in the neonatal nursery, 150 newborns were divided into three groups of 50. In the first two groups, screen-film and computed radiographs of the chest were obtained at the same radiation exposure; in the third group, computed radiographs were obtained with a 50% dose reduction (half-exposure computed radiographs). All images were blindly evaluated by three readers who scored the quality of visualization of the mediastinum, lung, bone, soft tissues, and endotracheal and nasogastric tubes, and also image density. No statistical differences in visualization of tubes existed among the three groups. Visualization of the mediastinum, lung, bones, and soft tissues was statistically significantly better on computed radiographs than on half-exposure computed radiographs; visualization of the lungs, bones, and soft tissues was statistically significantly better on screen-film radiographs than half-exposure computed radiographs. Image density was statistically better on computed and half-exposure computed radiographs than on screen-film radiographs. 相似文献
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Insect pest species can have devastating effects on crops. Control of these insect pests is usually achieved by using chemical insecticides. However, there has been much cause for concern with their overuse. Consequently, research has been carried out into alternative forms of control, in particular biological control methods. Recent laboratory studies have indicated that these natural forms of control can induce resistant strains of insect pest. In this paper we present a discrete-time host-pathogen model to describe the interaction between a host (insect species) that can develop a resistant strain and a pathogen (biological control) that can be externally applied to the system. For this model we use a single-state variable for the host population. We show that the proportion of resistance in the population impacts on the viability of the host population. Moreover, when the host population does persist, we explore the interaction between host susceptibility and host population levels. The different scenarios which arise are explained ecologically in terms of trade-offs in intrinsic growth rates, disease susceptibility and intraspecific host competition for the resistant subclass. 相似文献
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M. S. Reddy S. A. White B. C. Jaques N. Torpey D. M. Manas 《American journal of transplantation》2007,7(10):2422-2424
As demand for donor pancreases increases, attempts are being made to utilize even marginal grafts for transplantation. Injury during pancreas recovery can predispose to posttransplant complications and graft loss. Early recognition and correction can salvage these grafts. The authors report an instance of poor segmental perfusion of the pancreas graft that was salvaged by pancreas head resection and enteric drainage through a Roux-en-Y pancreatico-jejunostomy. 相似文献