Medulloblastoma in a child with Duchenne muscular dystrophy

Materials and methods A 7-year-old boy diagnosed with Duchenne muscular dystrophy (DMD) presented with clinical features of raised intracranial tension. A CT scan revealed an enhancing vermian mass extending on to the fourth ventricle, which was excised and reported to be medulloblastoma. The patient was treated with craniospinal radiotherapy but progressed after 6 months. Discussion Neoplasms associated with DMD are rare and the present case may well be the first one with medulloblastoma. Interestingly, all neoplasms associated with DMD reported so far have been round cell tumors, which may lead to insights into their possible molecular associations.     

DMD／BMD基因诊断的新体系—Amp—FLP单体型连锁分析

应用同位素掺入的多聚酶链式反应(polymerase chain reaction,PCR)扩增抗肌萎缩蛋白(dystrophin)基因内含子44、45、49、50中的CA重复序列,在聚丙烯酰胺凝胶电泳后放射自显影检测扩增产物。中国人在这4个位点均具有长度多态性:各位点等位片段数目分别为9、7、11、4,多态性信息含量(PIC)分别为0.872、0.772、0.870、0.710。应用这4个位点及先前报道的5‘CA及3‘CA进行了非缺失型DMD家系的单体型连锁分析及产前基因诊断,并用此方法检出了1例缺失。由此建立了以PCR为基础的DMD/BMD基因诊断新体系—Amp-FLP(扩增片段长度多态性连锁分析),此方法简便快速、灵敏高效,使缺失型与非缺失型DMD/BMD的基因诊断连贯性一次完成,有效地提高了DMD/BMD基因诊断的效率和成功率。     

Changes in muscle carnitine during regeneration

Carnitine in rat skeletal muscle was measured before, during, and after muscle regeneration. Early regenerating tibialis anterior muscle consequent to bupivacaine injection was found to have smaller amounts of total, free, and acyl carnitine per milligram wet weight, but returned toward normal values as muscle regeneration was completed. Accumulation of DL-[3H]carnitine per milligram wet weight in regenerating muscle was less than one-half that of control muscle at day 4 (P less than 0.005), but was not significantly different from the control value at day 7. Our results are consistent with the hypothesis that the reported decrease in muscle carnitine content in several different human neuromuscular diseases is in part a manifestation of muscle fiber regeneration.     

Studies of water permeability and proteins of erythrocyte membranes in patients with Duchenne muscular dystrophy

The characteristics of water permeability of erythrocytes from 54 Duchenne muscular dystrophy (DMD) patients and age-matched controls have been determined by a pulse nuclear magnetic resonance (NMR) technique. A decreased permeability of erythrocyte membrane in DMD was definitely found at all temperatures between 15 and 42 degrees C, with normal values for the activation energy of water diffusion. No differences between DMD and control subjects in the pattern of erythrocyte membrane polypeptides separated by two-dimensional electrophoresis could be detected. The findings are discussed in relation to the molecular mechanisms of water diffusion across erythrocyte membrane and the problem of erythrocyte membrane abnormalities in DMD. A new interpretation of erythrocyte membrane alterations is proposed based on the recent findings regarding the molecular pathology of DMD.     

散发型DMD/BMD家系突变分析及产前诊断研究

目的 分析散发型DMD/BMD家系中患者的致病突变,为部分家系的胎儿进行产前基因诊断,明确该类家庭中女性成员是否致病突变携带者,分析该类家系新发突变的比例.方法 共收集30个散发DMD/BMD家系,应用传统mPCR方法 分析DMD基因缺失热区中的18个外显子;应用MLPA方法,对家系中的30例患者及23个家系中的28位女性成员,进行DMD基因全部79个外显子的定量分析,并为其中19个家系进行20例产前诊断.结果 mPCR检测到19例缺失突变;MLPA检测到21例缺失突变和3例重复突变,并明确缺失突变范围.在检测到突变的家系中,10例母亲为缺失突变携带者,2例为重复突变携带者,9例母亲不是携带者,新发突变比例为37.5%.7例患者的姐妹中5例为携带者(3例缺失,2例莺复),2例不是携带者.经产前诊断,12例男性胎儿中5例为患者,8例女性胎儿中2例为携带者.结论 MLPA方法 可全面检测DMD基因缺失及重复突变、明确女性携带者,为产前诊断提供准确信息.     

Genetic testing,governance, and the family in the People’s Republic of China

In western countries the rise of genetic testing has been accompanied by ethical arrangements like autonomy and informed consent that help to dissociate genetics from eugenic policies. However, critics have argued that this trend to increase individual choice should be considered as a neoliberal governance strategy to promote bio-citizenship. These western concepts are often used to discuss genetic testing in the Peoples Republic of China as well. China’s population policy has a reputation for condoning eugenic practices and for ruthless one-child and family planning policies, but there have been many reforms recently, which, together with the revival and development of traditional religions and beliefs, have complicated the discussion about the meaning of the Chinese family. In this context, the introduction of genetic testing in China has been linked to state eugenics as well as post-reform neo-liberalist governance. Based on fieldwork and various archival and literature studies it explores genetic testing in five different Chinese contexts. The analysis makes clear that, although population planning in China proceeds from the idea that the planning of family health leads to a healthier population, traditional beliefs, individual initiative, group pressure, commercial organisations and state policies make for an amalgam of genetic testing practices that cannot be understood in terms of eugenics or liberal governance.