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Mutations in 31 known genes and additional unidentified loci can produce Charcot–Marie–Tooth disease.

他们用全基因组测序的方法对一个家庭进行特殊的诊断,在这个家庭中,有四个兄弟姐妹患有腓骨肌萎缩症-一种末梢神经疾病。31个已知基因中的突变和额外未确定的位点能够导致这种疾病。

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。

Its etiology is assumed to be abnormal embryologic development of the inferior vena cava as a result of atrophy failure of the right subcardinal vein in the lumbar portion.

导因为下腔静脉的异常胚胎发展结果导致在腰部的右侧心下静脉未萎缩。

Results These two patients were confirmed to suffer from DMD. They were characterized by typical features of DMD including typical clinical manifestations, increased serum enzymes, EMG presenting myogenic impairment, HE staining presentation belonging to DMD, negative dystrophin in brother, and inconstantly positive on the sarcolemma of sister. Furthermore, no deletion or duplication was found in the 1-79 exons of dystrophin gene. The suffering brother and sister carried the same maternal X chromosome.

结果 兄妹二人符合DMD诊断,具有典型的DMD临床表现,肌酸激酶、肌酸激酶同工酶、乳酸脱氢酶、羟丁酸脱氢酶和谷草转氨酶的水平均显著高于正常值,肌电图呈肌源性损害,肌肉HE染色符合DMD,男患者的抗肌萎缩蛋白表达阴性,女患者的少量肌纤维仍可见不连续膜阳性,两患者抗肌萎缩蛋白基因的1~79号外显子未见缺失和重复突变,女患者与男患者携带相同的母源性X染色体。

Results In the control group, 68.6% motoneuron death of spinal cord occurred by 3 weeks following surgery, and the size of surviving motoneurons was significantly atrophy and NOS positive neurons increased. In the experimental group, the mortality was decreased by 35% as compared with that in the control group.

结果 对照组68.6%的神经元死亡,存活神经元胞体明显萎缩,同时表达NOS神经元增多;实验组的死亡率较对照组降低35%,存活神经元胞体无萎缩,表达NOS神经元未见增多。

Alzheimer disease: A primary degenerative cerebral disease of unknown etiology with characteristic neuropathologcal and neurochemical features, including cortical atrophy with neurofibrillary tangles and neuritic argentophilic plaques, and a marked reduction on the enzyme choline acetyltransferase, in acetylcholine itself, and in other neurotransmitters and neuromodulators.

阿尔茨海默病:一种病因未明的原发退行性大脑疾病,具有特征性的神经病理和神经生化改变,包括伴有神经原纤维缠结和神经炎性嗜银斑的皮层萎缩,胆碱乙酰转移酶、乙酰胆碱本身、以及其它神经递质和神经调质的明显减少。

As a result, people in the Philippines would make working abroad as subsistent strategy, and even develop a culture of migration.

在经济情况萎缩之时,劳动市场也遭受严重的失业与未充分就业问题的冲击,导致菲律宾人逐渐将出国工作视为是生计策略,甚至形成一种文化。

Correspondingly, the areas of tilth and unused land decrease a lot, the decreasing rate were 32.9% and 65.1%;waters of the area also show a declining phenomenon.

相应的耕地和未利用土地面积大量减少,减少率分别为32.9%和65.1%;水域面积虽有萎缩,但变化不大。

The anatomy relationship of venae hepaticae intermediae and its branches on gallbladder bed were analysed,which could be the reference during the LC.Results:For 112 patients suffered from inatrophic cholecystitis and cholecystolithiasis,whose gallbladders were decoherence directdly from ectoptygma muscular coat close to the gallbladder wall.

结果:对于术前经彩色多普勒超声波检查明确的肝中静脉直接和胆囊床相贴的非萎缩性胆囊炎胆囊结石的102例患者,采用紧靠胆囊壁的浆肌层直接进行剥离;而慢性萎缩性胆囊炎胆囊结石的24例患者,采用胆囊粘膜切除,或者直接开腹手术切除,未发生因损伤胆囊床肝中静脉而大出血。

The microstructure of liver, kidney, intestine, stomach and brain was in good condition. There were no pathology changes such as extravasated blood,cell necrosis and etc.

肝、肾、胃、肠、大脑五种组织的显微结构清晰,未发现充血、淤血、细胞萎缩、变性、坏死、炎性细胞浸润和纤维组织增生等病理改变。

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