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脊肌萎缩
相关语句
  spinal muscular atrophy
     Survival of motor neurons(SMN) protein is the prod uct of spinal muscular atrophy(SMA) gene.
     运动神经元生存蛋白 (survival of motor neurons,SMN)是脊肌萎缩症的基因产物。
短句来源
     The Clinical and Pathological Analysis of 17 Cases Infantile Spinal Muscular Atrophy
     17例婴儿型进行性脊肌萎缩症临床与病理分析
短句来源
     Gene diagnosis and prenatal diagnosis of spinal muscular atrophy in children
     儿童期脊肌萎缩症的基因诊断及产前基因诊断
短句来源
     Clinical and Eletrophysiology Analysis of Infantile Spinal Muscular Atrophy
     婴儿型脊肌萎缩症的临床及电生理分析
短句来源
     Objective:The purpose of this paper was to examine the deletion of SMN exon 7 in spinal muscular atrophy (SMA).
     目的:检测脊肌萎缩患儿SMN基因第7外显子缺失。
短句来源
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  “脊肌萎缩”译为未确定词的双语例句
     another patient left only 165 bp that showed the deletion of SMN gene exon 7.Conclusion The deletion of SMN gene exon 7 and exon 8 examined by PCR enzyme digestion could be recommended as an accurate gene diagnostic method for CSMA.
     1例仅剩下 16 5 bp片段 ,表现有 SMN基因 7号外显子缺失。 结论  PCR-酶切检测 SMN基因 7号、8号外显子缺失可作为儿童型脊肌萎缩症的可靠的基因诊断方法。
短句来源
     Results: The PCR products of two patients' SMN exon 7, 8 were digested by DraI and DdeI, only remained 165bp and 125bp fragments, and showed they lacked SMN exon 7, 8. Conclusion: The detection of exon 7, 8 in SMN gene is a simple and reliable method for diagnosis of SMA.
     结果  2例患儿SMN基因第 7,8外显子PCR产物经DraI、DdeI酶切后 ,仅剩下 16 5bp与12 5bp片断 ,显示为SMN基因 7号、8号外显子缺失。 结论 PCR -酶切检测SMN基因 7号、8号外显子缺失可作为脊肌萎缩症的可靠基因诊断方法。
短句来源
     Conclusion Prenatal gene diagnosis may be the best measure to prevent the birth of SMA child.
     结论 婴儿型脊肌萎缩症可通过产前基因诊断避免患儿出生。
短句来源
     Conclusion: The results indicated that the pathological findings of adult spinal amyotrophy was not only characterized by lower motor neuron involvement with of anterior horn cells but also with the axonal degeneration and NF decrease in axons of the sural nerves.
     结论:成年型进行性脊肌萎缩症的病理特点不仅只表现为脊髓前角神经元的缺失等下运动神经元受损的表现,而且可以累及周围感觉神经,进行性脊肌萎缩症患者的腓肠神经活检病理检查也有相应的特征性改变,即腓肠神经的轴索变性和神经丝蛋白的明显减少。
短句来源
     Rapid Detection of SMN Gene Deletion in the Spinal Musculer Atrophy by Polymerase Chain Reaction and Restriction Enzyme Digest
     应用PCR-限制性内切酶技术快速诊断脊肌萎缩患儿的SMN基因缺失
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  相似匹配句对
     Prenatal Gene Diagnosis of Infantile Spinal Muscular Atrophy
     婴儿型肌萎缩症的产前基因诊断
短句来源
     Clinical and Eletrophysiology Analysis of Infantile Spinal Muscular Atrophy
     婴儿型肌萎缩症的临床及电生理分析
短句来源
     (3)Salt ridge.
     (3)盐
短句来源
     Five compounds have been firstly isolated from Woodwardia j aponica (L. f.)
     从狗(Woodwardiajaponica(L.f.)
短句来源
     Imagelogic Finding of Atrophic Muscle of Mastication
     咀嚼肌萎缩的影像诊断
短句来源
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  spinal muscular atrophy
Analysis of Deletions in SMN1, SMN2, and NAIPGenes in Spinal Muscular Atrophy Patients from the Northwestern Region of Russia
      
A new polygenic disturbance: Cystinuria, leucinuria and spinal muscular atrophy
      
The association of cystinuria, leucinuria, agromegalic characteristics and spinal muscular atrophy is reported in three girls.
      
Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy
      
A material of 247 cases selected from 260 cases of spinal muscular atrophy in the Warsaw Department of Neurology in 1960-1974 was analyzed.
      
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In selected plain,hills and mountain areas in the Huanggang prefecture of Hubei,we have investigated 21939 person.Of them,14 patients with he- reditary muscular atrophies were found out,among them 8 patients suffered proximal spinal muscul atrophies (PSMA)and the others from hereditary mo- tor and sensory neuropathies (HMSN).The former was PSMA-Ⅱ that has an autosomal recessive mode of inheritance and its prevalence was rated 36.64 /100000 in the population investigated.So,the mutant gene was approximate- ly...

In selected plain,hills and mountain areas in the Huanggang prefecture of Hubei,we have investigated 21939 person.Of them,14 patients with he- reditary muscular atrophies were found out,among them 8 patients suffered proximal spinal muscul atrophies (PSMA)and the others from hereditary mo- tor and sensory neuropathies (HMSN).The former was PSMA-Ⅱ that has an autosomal recessive mode of inheritance and its prevalence was rated 36.64 /100000 in the population investigated.So,the mutant gene was approximate- ly 1.9%.Then,the latter belonged to HMSN-Ⅱ,with autosmal dominant inheritance except for one case.And its incidence vas 27.34/100000.Both were aggregated in hilly areas.

在湖北省黄冈地区选取平原、丘陵和山区三种类型的农村地区,共调查21939人。查出进行性近端脊肌萎缩症患者8例,患病率为36.49/10万,属于PSMA-Ⅱ型,为常染色体隐性遗传,估算致病基因频率为1.9%;同时查出遗传性运动神经和感觉神经病6例,患病率为27.34/10万,属于 HMSN-Ⅱ型,除1例遗传方式不明外,其他为常染色体显性遗传。两种遗传性肌萎缩症均群集于丘陵地带,说明在这个地区开展遗传性肌萎缩的优生防治是必要的。

This article reports 40 cases of adult spinal muscular atrophy, with discussion on their earliest symptoms, location of lesion, the development of symptom, and the cause of death. Autopsy was performed in in two cases. Loss of androgen receptors and disturbance of immunologic function were the possible etiology. The major causes of death were "spinal type" respiratory failure and complications. Special attention should be paid to diaphragmatic paralysis in early phase of the disease.

本文报告40例成人脊肌萎缩症死亡患者的起病症状,病变部位、症状演变、病程、死亡经过和2例尸检材料。提出本病可能与运动神经元内雄激素受体丧失及免疫功能紊乱有关。其主要死亡原因为脊髓型呼吸衰竭和并发症。应特别警惕在疾病早期出现的膈肌麻痹。

Infantile progressive spinal muscular atrophy is an unusual motor neuron disease. This paper reports 2 cases who are sister and brother suffering from the same disease. Pamily history investigation revealed that a sister of their grandmother was a patient of similar disease. Clinical examination, muscle biopsy and chromosomal analysis of these 2 cases were made, and the mode of inheritance was discussed. It coresponds with autosomal recessive inheritance.

婴儿型进行性脊肌萎缩症是一种少见的运动神经元性疾病。本文报告2例本病患者,系同胞姐弟,追查家族史发现其祖母一同胞亦为类似患者。对2例患者进行了临床检查、组织活检及染色体分析,并对该病的遗传方式进行了探讨,认为婴儿型进行性脊肌萎缩症符合常染色体隐性遗传的特点。

 
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