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排序方式: 共有671条查询结果,搜索用时 15 毫秒
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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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G. Bradley Schaefer James N. Thompson John B. Bodensteiner James M. McConnell William J. Kimberling Charles T. Gay William D. Dutton David C. Hutchings Stanton B. Gray 《Annals of neurology》1996,39(3):382-385
There are conflicting reports on the relationship between cerebellar vermal lobule hypoplasia and autism. Using quantitative magnetic resonance image analysis, we measured the cerebellar vermis in 125 normal individuals with a broad age range and 102 patients with a variety of neurogenetic abnormalities. We conclude that hypoplasia of cerebellar vermal lobules VI and VII is a nonspecific finding that even occurs in several conditions without autistic behavior. This suggests that it is not a specific neuroanatomical marker for autism, nor is cerebellar dys- genesis likely to be solely responsible for clinical autistic behaviors. 相似文献
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USH is an autosomal recessive group of diseases characterized by auditory impairment and visual loss owing to RP. Two common types of USH are known, types I and II. USH type I is characterized by a congenital severe to profound hearing impairment, absent vestibular function, and a progressive pigmentary retinopathy. Persons with type I do not find hearing aids useful, have delayed motor development, and experience progressive night blindness and peripheral visual loss, which usually begins in their second decade. USH type II is characterized by a congenital moderate to severe hearing loss with a down-sloping audiogram, normal vestibular function, and a progressive pigmentary retinopathy. Persons with USH2 find hearing aids beneficial, have normal psychomotor development, and experience progressive night blindness and peripheral visual loss, which usually begins in their third decade. Vestibular dysfunction is the best distinguishing hallmark to differentiate USH type I from type II. One USH type II gene (called USH2) has been assigned to chromosome 1q. One USH type I gene has been tentatively assigned to chromosome 14q. There are other USH genes that have not yet been localized. 相似文献
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AR Jones BSC AJP Sandison FRCS WJ Owen MS FRCS 《International journal of clinical practice》1997,51(5):294-295
Pre-clerking of all patients undergoing elective general surgical operations was introduced at our hospital in an attempt to reduce an unacceptably high operation cancellation rate. A prospective audit has been performed on the effect of this policy on the cancellation rate. Before the introduction of pre-clerking there was a marked seasonal variation in the number of patients who failed to attend for surgery, which could be explained by absence on holiday. This seasonal variation disappeared after the start of pre-clerking clinics, but there has been no reduction in the number of cancellations for medical reasons. 相似文献
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Berbaum KS; el-Khoury GY; Franken EA Jr; Kathol M; Montgomery WJ; Hesson W 《Radiology》1988,168(2):507-511
The effect of knowledge of localizing symptoms and signs in the detection of fractures was studied. Forty radiographs of the extremities were examined twice by seven radiologists; the sessions were separated by 4 months. In 26 cases, a subtle fracture was present; 14 cases were normal. In half of the cases at each session, the precise location of pain, tenderness, or swelling was provided. The observer was asked to determine if the case was normal or abnormal (provide the exact location of the fracture) and to indicate the degree of confidence in the diagnosis. Responses were converted to a numeric scale for analysis. Analysis of receiver operator characteristic parameters indicates that clues regarding location of trauma facilitate detection of fractures. The improvement is based largely on an increased true-positive rate without an increased false-positive rate, regardless of the decision criteria of the radiologist (overall willingness to "overread" or "underread"). This has direct clinical applicability and reinforces the plea of radiologists for precise clinical information. 相似文献
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Lei Wan, Poliporus mylittae Cook et Mass(Omphalia lapidescena Scbraet) is a kind of fungus used in traditional Chinese medicine, as an antheiminthie From Lei Wan, an "active component designated as. S-4001 had been isolated.Preliminary results indicate that S-4001 belongs to D, β, 1-3 glucan with some 1-6 linkages.After administration of S-4001, significant antiinflammatory activity was found in various experimental animal models, including croton oil induced ear edema in mice and agar or yeast induced ankle swelling in rats. An inhibitory action on leucocyte migration inducced by intraperitoneal injection of CMC in rats was also observed. The plasma content of corticosterone was significantly increased, but the content of ascorbic acid in the adrenals did not change in rats given S-4001. Apart from these actions, S-4001 showed a number of immunostimulating actions such as increasing the clearance of Congo red from mice blood and potentiating the immunohemolysis reaction in 615 mice. 相似文献
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