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juvenile retinoschisis
相关语句
  视网膜劈裂症
     Objective To investigate the mutations of the gene in Chinese patients with X linked juvenile retinoschisis (XLRS), and to provide the genetic diagnosis and consultation of heredity for the patients and their families.
     目的研究中国先天性视网膜劈裂症(XLRS)患者的基因突变,为患者及亲属提供基因诊断及遗传咨询。
短句来源
     Methods The photochromes of the ocular fudus of 7 cases (14 eyes) who were diagnosed as juvenile retinoschisis were taken, among whom, 5 (10 eyes) were examined by FFA, and 6 (12 eyes) by OCT.
     方法 对临床诊断为青少年型视网膜劈裂症的 7例 14只眼拍摄彩色眼底图像 ,其中 5例 10只眼进行 FFA检查 ,6例 12只眼进行黄斑部 OCT检查。
短句来源
     Objective To observe the characteristics of fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) in juvenile retinoschisis.
     目的 观察青少年型视网膜劈裂症的荧光素眼底血管造影 (FFA)与光相干断层扫描 (OCT)图像特征。
短句来源
     Four Japanese male patients with juvenile retinoschisis: Only three have mut ations in the RS1 gene
     4例日本青少年视网膜劈裂症患者中3例存在RS1基因突变
短句来源
     The Screening of the Gene Mutation of the X-linked Juvenile Retinoschisis
     先天性视网膜劈裂症基因突变筛选
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  青少年型视网膜劈裂症
     Methods The photochromes of the ocular fudus of 7 cases (14 eyes) who were diagnosed as juvenile retinoschisis were taken, among whom, 5 (10 eyes) were examined by FFA, and 6 (12 eyes) by OCT.
     方法 对临床诊断为青少年型视网膜劈裂症的 7例 14只眼拍摄彩色眼底图像 ,其中 5例 10只眼进行 FFA检查 ,6例 12只眼进行黄斑部 OCT检查。
短句来源
     Characteristics of fundus fluorescein angiography and optical coherence tomography in juvenile retinoschisis
     青少年型视网膜劈裂症的荧光素眼底血管造影和光相干断层扫描检查
短句来源
     Objective To observe the characteristics of fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) in juvenile retinoschisis.
     目的 观察青少年型视网膜劈裂症的荧光素眼底血管造影 (FFA)与光相干断层扫描 (OCT)图像特征。
短句来源
     Conclusions In juvenile retinoschisis, pigment proliferation and degeneration in the macular area could be found. Granular fluorescence and cystic low-reflect areas could be seen in FFA and OCT, respectively.
     结论 青少年型视网膜劈裂症黄斑部视网膜劈裂处有色素上皮的增生与脱失 ,FFA表现为颗粒状透见荧光 ,OCT表现为囊样低反光区。
短句来源
  “juvenile retinoschisis”译为未确定词的双语例句
     The electroretinogram is beneficial in the diagnosis of juvenile retinoschisis. The a-wave can be of normal or nearly normal amplitude in this disorder, whereas the amplitude of the b-wave is appreciably reduced, giving a decrease in the proportion of b/a.
     视网膜电图有助于此病的诊断,a波振幅不变或轻微下降,b波明显下降,导致b/a的比例下降。
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  juvenile retinoschisis
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families
      
A Novel Truncating Rs1 Mutation Associated With X-Linked Juvenile Retinoschisis
      
DNA Analysis for Diagnosis of X-Linked Juvenile Retinoschisis When Clinical Examination Is Difficult in a Young Child
      
Juvenile retinoschisis (RS) and Norrie disease (ND) are X-linked recessive retinal disorders.
      
X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci
      
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A detailed visual electrooculogram study was performed in patients with hereditary juvenile retinoschisis(28 eyes). It showed that the RPE-photoreceptor complex function of the patients was obviously damaged, supporting the assumption that this disease was a whole retinal disease. The visual electrooculographic features of the two different types of this disease were defined. It was suggested that whereas the dark trough potential reflects the metabolic activity of cones, the light peak potential reflects...

A detailed visual electrooculogram study was performed in patients with hereditary juvenile retinoschisis(28 eyes). It showed that the RPE-photoreceptor complex function of the patients was obviously damaged, supporting the assumption that this disease was a whole retinal disease. The visual electrooculographic features of the two different types of this disease were defined. It was suggested that whereas the dark trough potential reflects the metabolic activity of cones, the light peak potential reflects the metabolic activity of rods.

本文研究了28只遗传性青年型视网膜劈裂症病眼的视觉眼电图,证实该病视网膜色素上皮-光感受器复合体的功能有明显损伤;明确了该病两型病损的视觉眼电图图形特点,并结合眼底形态学改变,探索了视觉眼电图各成分同眼底解剖部位的关系。

Objective To observe the characteristics of fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) in juvenile retinoschisis. Methods The photochromes of the ocular fudus of 7 cases (14 eyes) who were diagnosed as juvenile retinoschisis were taken, among whom, 5 (10 eyes) were examined by FFA, and 6 (12 eyes) by OCT. Results In 8 eyes with cystiform stellate maculopathy under ophtalmoscope, the result of FFA showed granular fluorescence in different density and shape without...

Objective To observe the characteristics of fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) in juvenile retinoschisis. Methods The photochromes of the ocular fudus of 7 cases (14 eyes) who were diagnosed as juvenile retinoschisis were taken, among whom, 5 (10 eyes) were examined by FFA, and 6 (12 eyes) by OCT. Results In 8 eyes with cystiform stellate maculopathy under ophtalmoscope, the result of FFA showed granular fluorescence in different density and shape without exact connection of the configuration between these granules and the cystlike maculopathy. In 2 eyes with pigment disorder in the macula under ophthalmoscope, blocky fluorescence was found in FFA. In 3 eyes with peripheral schisis, FFA discovered distorted and dilated retinal capillaries with different extent, and flecks of non-perfusion area. OCT images revealed thickening of the macular neuroepithelium with laminal seperation, and cystic low-reflect areas in the inner layer. Conclusions In juvenile retinoschisis, pigment proliferation and degeneration in the macular area could be found. Granular fluorescence and cystic low-reflect areas could be seen in FFA and OCT, respectively.

目的 观察青少年型视网膜劈裂症的荧光素眼底血管造影 (FFA)与光相干断层扫描 (OCT)图像特征。 方法 对临床诊断为青少年型视网膜劈裂症的 7例 14只眼拍摄彩色眼底图像 ,其中 5例 10只眼进行 FFA检查 ,6例 12只眼进行黄斑部 OCT检查。 结果 检眼镜检查黄斑部有微囊样改变的 8只眼 FFA表现为分布不均的颗粒状透见荧光 ,部分密集呈条状或块状 ,形态与眼底表现的微囊样改变无确定对应性 ;眼底检查 2只眼黄斑部表现为色素紊乱者 ,FFA表现为斑驳状荧光 ;3只眼颞下方劈裂的视网膜 FFA表现为程度不同的毛细血管扩张 ,片状无灌注区 ,劈裂起始处可见斑驳状荧光。OCT检查显示黄斑部神经上皮层增厚 ,层间分离 ,呈大小不等的囊样低反光区。 结论 青少年型视网膜劈裂症黄斑部视网膜劈裂处有色素上皮的增生与脱失 ,FFA表现为颗粒状透见荧光 ,OCT表现为囊样低反光区。

Objective To analyze the pathogenesy and mutation of X-linked juvenile retinoschisis (XLRS) 1 gene in XLRS families, and to provide the theory basis in directing gene diagnosis. Methods The mutation of XLRS1 gene code in two XLRS families were detected and screened by polymerase chain reaction (PCR) and DNA direct sequence determination. Results Pro193Ser mutation was detected in family 1. Conclusion Pro193Ser mutation could be found in XLRS families, which can be used for genetic consultation and...

Objective To analyze the pathogenesy and mutation of X-linked juvenile retinoschisis (XLRS) 1 gene in XLRS families, and to provide the theory basis in directing gene diagnosis. Methods The mutation of XLRS1 gene code in two XLRS families were detected and screened by polymerase chain reaction (PCR) and DNA direct sequence determination. Results Pro193Ser mutation was detected in family 1. Conclusion Pro193Ser mutation could be found in XLRS families, which can be used for genetic consultation and prenatal gene diagnosis.

目的 研究先天性视网膜劈裂症 (XL RS)家系的 XL RS1基因突变情况及其发病机制 ,为建立基因诊断的方法提供理论依据。 方法 采用聚合酶链反应 (PCR)和 DNA直接测序方法对两个家系的XL RS1基因编码区进行突变的筛选及检测。 结果 在家系 1中发现 Pro193Ser突变。 结论 在 XL RS家系中发现 XL RS1基因突变。本研究结果可直接应用于 XL RS的遗传咨询和产前基因诊断。

 
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