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61.
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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Chad G. Ball Andrew W. Kirkpatrick Matthew Smith Robert H. Mulloy Leonard Tse Ian B. Anderson 《European journal of trauma and emergency surgery》2007,33(5):550-552
Abstract We report a case of SMV injury in a critically ill patient. The patient was a 19-year-old woman involved in a motor vehicle
collision. Her injuries included grade II splenic and renal lacerations, devascularized and lacerated right and transverse
colon, a transected transverse mesocolon, a massive shear injury of her abdominal wall, and two partial SMV transections.
At initial damage control laparotomy, the SMV was ligated, the devascularized bowel resected and a temporary abdominal closure
applied. At re-operation, a mesocaval shunt using saphenous vein was employed. The shunt failed and the patient required a
saphenous vein jump graft. Although visceral vascular injuries are rare, ligation of the SMV in a damage control situation
is acceptable. This case study is the first to discuss appropriate treatment when interruption to a patient's collateral visceral
venous drainage limits the surgeon’s ability to ligate. In these situations, bypass shunts may be successful. 相似文献
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Henry Cisneros 《AIDS and behavior》2007,11(2):7-8
For persons battling HIV/AIDS a stable place to live may decide the length and quality of life itself. It is nearly impossible for a person on the streets to engage in a needed continuous AIDS treatment regimen when the very basic question of where that person will rest his or her head when darkness comes in just a few hours is unresolved. When danger lurks on the streets, when cold numbs the limbs, when tiredness overwhelms the mind, when fear breaks the spirit, a place to call home would make all the difference. 相似文献
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Prostatitis accounts for almost 2 million office visits to urologists and primary care physicians. The label “prostatitis” refers to a diverse constellation of symptoms and disease processes. The diagnosis and treatment of this disorder present numerous challenges for the physician, including a lack of abnormal findings on physical examination, laboratory tests, and radiographic images. In this article, we offer a review of the current literature and recommendations for the evaluation and diagnosis of the patient presenting with prostatitis. 相似文献