无汗
- No sweat;adiapneustia
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X染色体倒位伴X连锁无汗性外胚叶发育不良一个家系的产前诊断
Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion
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无汗性外胚层发育不全患者EDA基因突变检测
Gene mutation detection for a patient with anhidrotic ectodermal dysplasia
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目的:检测无汗性外胚层发育不全患者的EDA基因的突变。
Objetive : To detect the gene mutation of a patient with anhidrotic ectodermal dysplasia .
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目的探讨对X连锁无汗性外胚叶发育不良(EDA)家系的EDA患胎进行产前诊断的可能性,为建立对该病的产前诊断及遗传咨询提供依据。
Objective To investigate the possibility of prenatal diagnosis of the fetal suspected to be affected by anhidrotic ectodermal dysplasia ( EDA ) in a family with X-linked EDA so as to provide a basis for prenatal diagnosis and genetic counseling of this disorder .
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报道了无汗性外胚叶发育不全(EDA)一家系,患者既有男性,又有女性,男女比例接近1∶1,属常染色体显性遗传。
A family with anhidrotic ectodermal dysplasia ( AED ) is reported . There were 8 male and 6 female patients in the family , and the male to female ratio was approximately 1 ∶ 1 and the condition belonged to autosomal dominant inheritance .
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CIPA患者感受不到疼痛,是因为先天性无痛无汗症基因突变,不能及时控制体温是由于他们不能排汗。
Since people with CIPA have mutations in the gene , they feel no pain and have constant trouble controlling their body 's temperature because they are unable to sweat .
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无汗性外胚层发育不良伴特发性角膜穿孔和圆锥角膜的病例
Anhidrotic ectodermal dysplasia with spontaneous corneal perforation and keratoconus
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报告1例无汗性外胚叶发育不良伴巨大型环状肉芽肿。
This article reports a case of anhidrotic ectodermal dysplasia associated with giant type granuloma annulare .
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目的分析无汗性外胚叶发育不全的遗传类型和临床特点。
Objective To analyze genetic types and clinical features with anhidrotic ectodermal dysplasia ( EDA ) .
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一周见效,随访一年,全身无汗症状消失,皮肤恢复正常。
This child started to sweat and his skin became normal after followed up for one year .
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方法采用临床检查和家系调查的方法,对5个无汗性外胚叶发育不全家系共计35例患者进行遗传类型和临床表现分析。
Methods The genetic types and clinical manifestations of35 patients with EDA in five families were analyzed by genealogical investigation and clinical examination .
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该疾病的典型临床表现为少汗或无汗,毛发稀疏或全无,牙齿缺如或牙齿形态异常等三联症状。
Its characteristic clinical manifestations ( triple-symptom complex ) include hypohidrosis or anhidrosis , sparse hair or hairlessness and dental absence or paramorphia .
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当皮肤干燥无汗,外出大约30分钟前前涂抹防晒霜。
Instead , apply sunscreen to dry skin when you 're indoors roughly 30 minutes before you plan to be in the sun .
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目的研究托吡酯治疗儿童癫疒间时出现的泌汗障碍(少汗或无汗)及其对策。
Objective To study perspiration disorder ( hyporidrosis or adiaphoresis ) in the course of treating epilepsy by topiramate ( TPM ) in children and the countermeasures .
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结论:临床用于感冒、高热、哮喘、无汗症、急性肾炎、过敏性鼻炎等多科疾病,且取得了良好地治疗效果。
Conclusion : It could be applied clinically to cure several diseases such as cold , fever , asthma , anhidrosis , acute nephritis , allergic rhinitis , etc. , and get good effect .
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全身症状有恶寒颤栗,无汗身痛,关节酸痛,腹痛拘急,舌淡红,苔薄白。
Systemic symptom has tremble of aversion to cold , the body that do not have sweat is painful , articulatory ache , bellyache arrest is urgent , the tongue is reddish , liver mosses Bao Bai .
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如果发现有人严重缺水,一定要立即拨打急救电话。严重脱水的症状包括极度口渴,嘴巴和其他部位非常干燥,性格改变,无汗,尿少或无尿。
Call 911 if a victim appears to be suffering from severe dehydration , which includes symptoms like extreme thirst , a very dry mouth and other membranes , a change in personality , a lack of sweating , and infrequency or cessation of urination .