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tooth病
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  tooth disease
     A new mutation in the connexin 32 gene was found in Charcot Marie Tooth disease in Chinese patients
     中国人中发现一例Charcot-Marie-Tooth病连接蛋白32基因新突变
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  “tooth病”译为未确定词的双语例句
     Independent Assortments or Charcot-Marie-Tooth Disease and Hereditary Gynecomastia
     Charcot-Marie-Tooth病与遗传性男子女性型乳房的自由组合
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     A study of Charcot-Marie-Tooth disease in genetics, clinical manifestation and electrophysiology (clinical analysis of 20 cases)
     Charcot-Marie-Tooth病的遗传、临床和电生理观察(附20例临床分析)
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     The study of gene duplication in Charcot-Marie-Tooth disease type 1A patients
     Charcot-Marie-Tooth病1A型基因重复诊断研究
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     Study of Antibodies to PMP22,IL-6 and TNF-α Concentrations in Serum in CMT Patients
     Charcot-Marie-Tooth病患者血清PMP22抗体、IL-6和TNF-α水平的研究
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     This paper reports transmission, clinical and electrophysiology data about 20 patients with Charcot-Marie-Tooth diseases.
     本文报道 20例 Charcot-Marie-Tooth病的遗传、临床和电生理资料。
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  相似匹配句对
     The Nipah Disease
     尼帕
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     Legionnaires' disease
     军团
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     CLINICAL OBSERVATION OF ELECTROPHYSIOLOGY ON CHARCOT—MARTE—TOOTH OF A FAMILY TREE
     一个家系Charcot-Marie-Tooth的临床电生理观察
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     The study of gene duplication in Charcot-Marie-Tooth disease type 1A patients
     Charcot-Marie-Tooth1A型基因重复诊断研究
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  tooth disease
This study reports on 20 sporadic cases ofCharcot-Marie-Tooth disease, five of which could be followed up for periods from 2 to 16 years.
      
This report deals with two sisters (38 and 44 years old) suffering from Charcot-Marie-Tooth disease.
      
Motor and sensory conduction velocity in Charcot-Marie-Tooth disease
      
A case of late motor neuron degeneration following poliomyelitis with abnormal mitochondria in muscle fibers is presented with two additional cases of systemic neurogenic muscular atrophy (Charcot-Marie-Tooth disease).
      
Charcot-Marie-Tooth disease associated with retinal pigment dystrophy and protanopia
      
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This paper reports transmission, clinical and electrophysiology data about 20 patients with Charcot-Marie-Tooth diseases. It included 16 cases male, 4 cases femal, the average onset age is 26. 75 years old. We found that 4 cases of transmission were dominant, 3 recessive, 10 sporadic and the remaining 3 nuclear. The main signs were high pedal arches, drop foot," stork leg" and loss of tendon reflex. One-fouth cases were presented amyotrophy in the forearm of upper limb. The electrophysiological tests showed...

This paper reports transmission, clinical and electrophysiology data about 20 patients with Charcot-Marie-Tooth diseases. It included 16 cases male, 4 cases femal, the average onset age is 26. 75 years old. We found that 4 cases of transmission were dominant, 3 recessive, 10 sporadic and the remaining 3 nuclear. The main signs were high pedal arches, drop foot," stork leg" and loss of tendon reflex. One-fouth cases were presented amyotrophy in the forearm of upper limb. The electrophysiological tests showed denervation in all cases,especially MCV decreased obviously. No relationship between the decrease of MCV and clinical seventy was found.

本文报道 20例 Charcot-Marie-Tooth病的遗传、临床和电生理资料。其中男 16例,女 4例,平均发病年龄为26.75岁。发现4例显性遗传,3例隐性遗传,10例散发,3例遗传情况不详。主要症状有高弓足、垂足、鹤腿和腱反射消失;上肢前臂有肌萎缩者占1/4。所有病人电生理检查均有失神经现象,特别是MCV有明显减慢。且发现MCV的减慢和临床严重程度无相关联系。

Objective:To detect the 17p11.2 p12 duplication in Chinese Charcot Marie Tooth 1 patients, and to analyze the clinical feature of the patients.Methods:Extract DNA from the peripheral white blood cell of 29 members from 15 CMT1 families. The CMT1A duplication were detected by PCR STR quantitative analysis of 3 STR markers in 17p11.2 12 rgegion. Sensitivity of different marker was compared. Clinical features of patients diagnosis to have the CMT1A duplication were analysed. Results:In 16 patients who were...

Objective:To detect the 17p11.2 p12 duplication in Chinese Charcot Marie Tooth 1 patients, and to analyze the clinical feature of the patients.Methods:Extract DNA from the peripheral white blood cell of 29 members from 15 CMT1 families. The CMT1A duplication were detected by PCR STR quantitative analysis of 3 STR markers in 17p11.2 12 rgegion. Sensitivity of different marker was compared. Clinical features of patients diagnosis to have the CMT1A duplication were analysed. Results:In 16 patients who were diagnosed clinically and electrophysiologically as CMT1 we found 9 (56%) with the CMT1A duplication. Duplication was detected in 4 of the 13 non symptom family members. Study of 100 normal controls shows a heteroxygosity of 85%, 77% and 80% for the 3 markers RM GT, D17S1357 and D17S1358, and polymorphism is 7, 7, 6 respectively. Conclusion:CMT1A is the most common subtype of CMT in Chinese group as in other races. STR quantitative analysis of markers on different sites in 17p11.2 p12 region provides a sensitive and reliable method for detection of CMT1A duplication. Clinical Chinese group as in other races. Detection of the duplication represents a very useful tool for diagnosis of CMT1A, especially for those without clear menifestations of clinical symptoms.

目的:探察国人Charcot-Marie-Tooth 病1A (CMT1A) 型患者的17p11.2-p12 区基因重复及与临床表现型的关系。方法:对15 个CMT1 家系的29 名成员进行17P11.2-P12 区的3 个短串联重复序列标记物进行多聚酶链反应-短串联重复序列(PCR-STR)定量检测,并将检测结果结合临床资料进行分析,在100 名正常对照中进行3 种标记物的杂合率及多态性分析。结果:16 名CMT患者中检出CMT1A 重复者9 名(56% ), 13 名无症状家属中检出4 名基因重复者,RM-GT、D17S1357、D17S1358 三种标记物的杂合率分别为85% 、77% 和80% ,多态性分别为7、7 和6。结论:CMT1A 基因重复是国人CMT中最多见的基因突变,三种标记物的PCR-STR定量分析对CMT1A 基因重复的检测有较高的敏感性和特异性,是这一基因突变的简单可靠的诊断方法,并有助于临床前期病人的诊断。

Objective To study the clinical and electrophysiological features in Charcot-Marie-Tooth disease type 1A with gene duplication. Methods Clinical symptoms and signs were summarized in 22 patients from 21 unrelated families. Electromyog- raphy (EMG) as well as motor conduction velocities (MCV) and sensory conduction velocihes (SCV) eednations were performed in all patients.Results Evidence of CMT was initially detected within the second decade in 18 patients. Nearly half of patients were sporadic cases. The...

Objective To study the clinical and electrophysiological features in Charcot-Marie-Tooth disease type 1A with gene duplication. Methods Clinical symptoms and signs were summarized in 22 patients from 21 unrelated families. Electromyog- raphy (EMG) as well as motor conduction velocities (MCV) and sensory conduction velocihes (SCV) eednations were performed in all patients.Results Evidence of CMT was initially detected within the second decade in 18 patients. Nearly half of patients were sporadic cases. The typical clinical manifestations of CMT1A were weakness and atrophy in the distal lids, weakness or ab- sence of the tendon reflexes, talipes equinovarus and postural tremor the upper limb. Additionally, some special symptoms and signs were also observed occasionally, including brisk tendon reflexes, extesi plantal responese, scoliosis, foot ulcers and nys- tagmus. EMG revealed that 77.3% Of the patients had fibrillation and positive ho potentials. 81. 8% of them had prolonged motor unit potential limit. Median MCV showed there was no significant difference between CMT1A patients and CMT1 patients without duplication (t = 1. 63, P > 0.05). Values of SCV and MCV for the lower lids were not obtained in 20 potents and more than 2/3 of the patients respectivelyl. Conclusions The clinical features of CMT1A included high frequent of sporadic cases, early onset in the second decade and various manifestations. The electrophysiological features were that the damages of nerves for the lower Limbs were more serverer than those in the upper itch and the damages of the sensory nerves were more severer than those of the motor nerves. The phenotype was variable although the genotype was the same in CMTIA patients with PMP22 duplication.

目的研究有基因重复的进行性腓骨肌萎缩症1A型(Charcot-Marie-Tooth病1A,CMT1A)临床与电生理特点。方法对来自21个家系的22名CMT1A病人;临床特点进行总结,同时分析其电生理特征,包括肌电图(EMG)、运动神经传导速度(MCV)和感觉神经传导速度(SCV)。结果18例病人20岁以前发病;20例为散发;均具有肢体远端肌肉无力和萎缩、腱反射减弱或消失、足畸形和上肢姿势震颤等典型的临床表现,偶尔合并膝腱反射活跃、病理征阳性、脊柱侧弯、足部溃疡和眼震等。17/22的病人肌电图上出现纤颤、正相电位,18/22的病人运动单位电位时限延长。有基因重复的CWT1A病人正中神经MCV与无基因重复的CMT1A病人无显著性差异。20/22的病人下肢SCV引不出,2/3以上病人下肢MCV引不出。结论本组病人散发病例多,临床表现差异较大。电生理特点为下肢神经病变重于上肢,感觉神经病变重于运动神经。CWIA病人虽然基因型相同,表现型却存在差异。

 
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