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- A hereditary form, myotonia congenita (Thomsen's disease), can affect eyelid and eye motion, swallowing, or talking. 具遗传性的先天性肌强直(汤姆生氏病),会影响眼睑和眼睛的运动、吞咽或说话。
- "Certain toxins can cause it. A hereditary form, myotonia congenita (Thomsen disease), can affect eyelid and eye motion, swallowing, or talking." 某些毒素亦可引发本
- myotonia congenita [医] 先天性肌强直
- atypical myotonia congenita 非典型性先天性肌强直
- Myotonia of the extremities only causes spastic deformity of the hand or foot. 肢体末端的肌肉强直会导致手或脚的痉挛。
- Myotonia: Disorder causing difficulty relaxing contracted voluntary muscles. 肌强直:随意肌收缩后松弛困难的一种肌肉疾病。
- Conclusion(s): Aplasia cutis congenita is easily ignored when the lesion is small. 当先天性表皮发育不全伤口面积很小时,极易被忽略。
- We report this case and also review the literature, and then we suggest a checklist for aplasia cutis congenita. 我们报告此一病例,并整理文献列出一个清单,用以处理先天性表皮发育不全之作业流程。
- A case of dyskeratosis congenita is reported and the family pedigree is also analyzed. 报告1例先天性角化不良并附家系调查报告。
- As a result of face myotonia, expressional movement and twinkling eye movement decrease, show " mask face " . 由于面肌强直,表情动作和瞬目动作减少,呈“面具脸”。
- Myotonia seems to originate in the muscles (myopathy) rather than the nervous system. 病变似乎是在肌肉本身,而不是在神经系统。
- Skin biopsy was obtained from five cases,revealing pathological changes consistent with dyskeratosis congenita. 5例患者的皮损曾行组织病理学检查,其改变均与本病相符。
- Conclusions The clinical characteristics of DM are weakness, atrophy and myotonia. 结论DM的临床特征是肌无力、萎缩及强直;
- EMG showd myogenic abnormality and the potential of myotonia damages in all the cases. 肌电图检查结果为肌源性损害,6例均可见肌强直电位发放。
- Objective: As shown in published literatures, aplasia cutis congenita (ACC) is an uncommon anomaly among newborns and is often overlooked when the lesion is small. 摘要目的:先天性表皮发育不全为一种少见的先天性疾病,但往往因为缺损体积过小而被忽略。
- All or only a few may be affected. Myotonia seems to originate in the muscles (myopathy) rather than the nervous system. 可能发生于全身所有的肌肉,也可能仅发生于几块肌肉中。病变似乎是在肌肉本身,而不是在神经系统。
- There is an association with other abnormalities in at least 50% of the patients with cutis marmorata telangiectatica congenita. 本文所报告的病例乃是一位三十八天大的女婴儿,出生时即有此皮肤病兆。
- Conclusions DM is a hereditary disease.The main clinical features are muscle weakness and myotonia associated with multisystem lesions. 结论DM是一种以肌无力和肌强直为主要表现的多系统损害的遗传性疾病;
- As shown in published literatures, aplasia cutis congenita (ACC) is an uncommon anomaly among newborns and is often overlooked when the lesion is small. 摘要目的:先天性表皮发育不全为一种少见的先天性疾病,但往往因为缺损体积过小而被忽略。
- Unchecked telomere loss by HSC, meanwhile, would appear to play a significant role in the pathogenesis of bone marrow failure, as observed in the condition dyskeratosis congenita. 当观察到角化不良的现象时,端粒缺失可能在骨髓衰竭的发病中起关键作用。
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