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Objective To investigate variant MRA features in vertebral artery so as to improve the ability of understanding and the diagnosis of the true bulbar paralysis.Methods Twenty eight patients(range:11~65years,mean36years)with anomaly vertebral artery were confirmed by MRA.Clinical symptoms of the patients(including dysarthria,choke cough,dysphagia,limb asthenia,digital top numbness,headache,dizzy and sense detachment)and changes in the vertebral artery,special intracranial branch,were retrospectively analyzed.

目的 探讨椎动脉,特别是椎动脉颅内段的变异类型及其MRA表现,提高对真性球麻痹的认识与诊断水平方法经MRA检查确诊28例椎动脉异常的病人,对其异常类型、临床症状与MRA表现进行了回顾性分析。

Gene mutations were detected in 25 patients and a 18-year-old girl among 16 families. Trinucleotide repeats of CAG were 73~79. The fragments of abnormal alleles were 380~402bp, and all patients were heterozygous. The copy numbers of normal alleles were 18~40, fragments from 202~270bp. SCV reduction was much obvious compared to MCV, MCV and SCV in lower limb ?ere much more slow than that in upper's. BAEP, VEP were also delayed in latency. The anticipation in parental sex bias were much more obvioius than that in matental's. Cerebellar ataxia was most severe, the next were dysarthria and bulging eyes. Amytrophy was seen only in bed ridden patients. Cerebellar atrophy was more severe than brain stem, cord atrophy was n't observed in all MJD.

结果检出10个家系25例病人及1例症状前18岁女孩有MJD基因突变,CAG三核苷酸重复73~79次,异常等位基因片段长380~402bp,均为杂合子;正常人CAG三核苷酸重复18~40次,等位片段长200~270bp,电生理发现MJD的SCV减慢比MCV明显,而下肢的MCV、SCV又较上肢明显,BAEP、VEP均有不同程度的潜伏期延长或波的异常;MJD的父亲遗传早于母亲,进展也较块,临床以小脑性共济失调为突出症状,其次为构音障碍、突眼等,肌肉萎缩仅见于晚期病人;MRI示小脑萎缩较明显,脑干萎缩并不严重,未见明显的颈髓萎缩。

Present, verbal communication may be a mixture of some meaningful communication andd some peculiar speech such as jargon, echolalia, orr pronoun reversal.

中度异常。可能没有语言。如果有,语言交流中混杂一些没有意义的交流内容,并存在异常语言,比如无意义的废话、仿说和代词反用。

Ray will show the associated skeletal anomalies, such as skull base invagination, scoliosis, kyphosis, cervical ribs, and many other skeletal anomalies. Axial images with CT may demonstrate an obliterated cisterna magna, tonsillar ectopia, and a normal fourth ventricle.

线可以显示出伴随的骨骼异常,如颅底凹陷,脊椎侧弯,脊椎后突,颈肋,以及许多其他的骨骼异常,CT轴位图像可以显示一个闭塞的小脑延髓池,扁桃体异位,以及正常的四脑室。

Dynamic Electrocardiography was an effective way to detect children with precordial distress.

两种检查结果显示异常的患儿中心肌酶学异常者占30%。结论 DCG是心前区不适患儿有效的检测方法。

Results 286 example patient center electrograph exceptionally 203 examples, ST section flat and smooth 26 examples, occupies the unusual electrocardiogram 12.8%, 26 example ST flat and smooth patient moves flat pack movement experiment masculine,21 examples occupies 80.8%.

结果:286例患者中心电图异常者203例,其中ST段平展26例,占异常心电图的12.81%,26例ST平展患者活动平版运动实验阳性21例占80.77%。

In the group of HIE there were 46 cases tested by encephalogram ,27 cases were abnomal ,the abnomality rate was 58.7%,it was parallel comparing the change of BAEP.

结果 HIE组BAEP异常率58%,正常组BAEP异常率1.9%,两组比较差异有统计学意义。

Cases of eosinophilia were collected and chromosome specimens of bone marrow cells were prepared by 24hour culture, and Gbanding technique was used for karyotyping.

为探讨染色体异常克隆在嗜酸性粒细胞增多症诊断和鉴别诊断中的意义及克隆性嗜酸性粒细胞增多症涉及的染色体异常,收集了65例嗜酸性粒细胞增多患者的骨髓标本,培养24小时,采用G显带进行核型分析。

The aim of study was to investigate the importance of chromosome aberration in differential diagnosis of eosinophilia and the chromosomal aberrations involved in patients with clonal eosinophilia. 65 cases of eosinophilia were collected and chromosome specimens of bone marrow cells were prepared by 24hour culture, and Gbanding technique was used for karyotyping.

为探讨染色体异常克隆在嗜酸性粒细胞增多症诊断和鉴别诊断中的意义及克隆性嗜酸性粒细胞增多症涉及的染色体异常,收集了65例嗜酸性粒细胞增多患者的骨髓标本,培养24小时,采用G显带进行核型分析。

Mutants withdefects in epiboly, axis, somite, head, and cardiac and blood systems were identifiedby observing morphological changes in F3 embryos. Additionally, in situhybridization was adopted to identify mutant lines with altered expression patterns ofdpr2, frb35 and insulin.

通过对 F3 代胚胎的表型观察,鉴定了在外包、体轴、体节、头部、心血管系统等表现异常的突变体;通过原位杂交的方法,筛选了 dpr2,frb35 和胰岛素基因表达异常的突变体。

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