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大学英语 1986年第6期 36-39页

作者： Robert Silverburg 康明强

At dawn on August 24,in the year A.D.79,pompeii’s 25,000 peopleawakened to another hot day in that hot *** was goingto be a contest in the arena that night and the whole town was lookingforward to the bloody fights of the *** children headedtoward school,carrying slates and followed by their *** the forumthe town’s important men had gathered after breakfast to read the poli-

关键词： pompe 科幻小说

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54例荷兰籍迟发性pompe病患者的临床表现和自然病程

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世界核心医学期刊文摘（神经病学分册） 2005年第8期1卷 17-18页

作者： Hagemans M.L.C. Winkel L.P.F. Van Doorn P.A. A.T. Van Der Ploeg 郭俊 Erasmus MC-Sophia Dr Molewaterplein 60 3015 GJ Rotterdam Netherlands Dr.

Late-onset pompe’s disease (acid maltase deficiency, glycogen storage diseas e type II) is a slowly progressive myopathy caused by deficiency of acid α-glu cosidase. Current developments in enzyme replacement therapy require detailed kn owledge of the kind and severity of symptoms and the natural course of the disea se in the patient population.A detailed questionnaire covering the patients’med ical history and current situation was developed and information was gathered fr om 54 Dutch patients. The mean age of the participants was 48.6 ±15.6 *** first complaints started at a mean age of 28.1±14.3 years and were mostly rela ted to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood . Twenty-eight percent of the patients waited > 5 years for the final diagnosis after the first visit to a physician for disease related complaints. At the tim e of questionnaire completion,48%of the study population used a wheelchair and 37%used artificial *** such as rising from an armchair,taking stairs or getting upright after bending over were difficult or impossible for m ore than two-thirds of the *** age at onset, the rate of disease pr ogression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indica ted being troubled by fatigue and 46%by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease s everity in a large group of Dutch patients. We conclude that early manifestation s in childhood require proper attention to prevent unnecessary delay of the diag nosis. The follow-up of patients with late-onset pompe’s disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.

关键词： pompe 酸性麦芽糖酶糖原贮积病问卷反馈 α-葡萄糖苷酶发病年龄肌病首次就诊缺乏症疼痛情况

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孕早期用抗体测定绒毛酸性α-葡萄糖苷酶诊断pompe病

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国外医学.遗传学分册 1987年第5期 277-278页

作者：鲁彤华

pompe氏病(即糖原贮积病Ⅱ型)是常染色体隐性遗传病,患者的酸性1,4-α-葡萄糖苷酶缺乏,糖元降解受阻,婴儿型患儿常在1岁内死亡,在妊娠中三月进行羊膜穿刺培养羊水细胞可产前诊断,近来用绒毛膜绒毛标本可在孕早期对该病进行诊断。本文报... 详细信息

pompe氏病(即糖原贮积病Ⅱ型)是常染色体隐性遗传病,患者的酸性1,4-α-葡萄糖苷酶缺乏,糖元降解受阻,婴儿型患儿常在1岁内死亡,在妊娠中三月进行羊膜穿刺培养羊水细胞可产前诊断,近来用绒毛膜绒毛标本可在孕早期对该病进行诊断。本文报道一妇女,其第一胎娩出一pompe病患儿,在她怀孕第二胎时,取妊娠第10周的绒毛膜绒毛直接进行酶检测,在妊娠18周时取羊水细胞分析验证以上结果,并在怀孕7～13周用抗人肝酸性α-葡萄糖苷酶抗体进一步分析绒毛膜绒毛的1,4-α-葡萄糖苷酶。结果

关键词：绒毛膜羊水细胞葡萄糖产前诊断患儿右旋糖己糖 pompe 孕早期

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Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies

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Chinese Medical Journal 2019年第7期132卷 805-810页

作者： Jing-Wei Lyu Xue-Bi Xu Kun-Qian Ji Na Zhang Yuan Sun Dan-Dan Zhao Yu-Ying Zhao Chuan-Zhu Yan Institute of Neuromuscular and Neurodegenerative Diseases Department of NeurologyQilu HospitalShandong UniversityJinanShandong 250012China Brain Science Research Institute Shandong UniversityJinanShandong 250012China Department of Neurology Qilu Hospital (Qingdao)Shandong UniversityQingdaoShandong 266035China Mitochondrial Medicine Laboratory Qilu Hospital (Qingdao)Shandong UniversityQingdaoShandong 266035China

Background:Abnormally activated mechanistic target of rapamycin(mTOR)pathway has been reported in several model animals with inherited metabolic myopathies(IMMs).However,the profiles of mTOR pathway in skeletal muscles from patients are still *** study aimed to analyze the activity of mTOR pathway in IMMs ***:We collected muscle samples from 25 patients with mitochondrial myopathy(MM),lipid storage disease(LSD)or pompe disease(PD).To evaluate the activity of mTOR pathway in muscle specimens,phosphorylation of S6 ribosomal protein(p-S6)and p70S6 kinase(p-p70S6K)were analyzed by Western blotting and ***:Western blotting results showed that p-p70S6K/p70S6K in muscles from LSD and MM was up-regulated when compared with normal controls(NC)(NC ***,U=2.000,P=0.024;NC ***:U=6.000,P=0.043).Likewise,p-S6/S6 was also upregulated in muscles from all three subgroups of IMMs(NC ***,U=0.000,P=0.006;NC ***,[7=0.000,P=0.006;NC ***,U=1.000,P=0.007).Immunohistochemical study revealed that p-S6 was mainly expressed in fibers with metabolic *** MM muscles,most p-S6 positive fibers showed cytochrome C oxidase(COX)deficiency(U=5.000,P=0.001).In LSD and PD muscles,p-S6 was mainly overexpressed in fibers with intramuscular vacuoles containing lipid droplets(17=0.000,P=0.002)or basophilic materials(U=0.000,P=0.002).Conclusion:The mTOR pathway might be activated in myofibers with various metabolic defects,which might provide evidence for mTOR inhibition therapy in human IMMs.

关键词： mTOR pathway Mitochondrial myopathy Lipid storage disease pompe disease

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