目的 总结一个以心脏损害为首发症状的假肥大肌营养不良症家系的遗传学及临床特征。方法 对先证者和家系成员进行临床观察、并收集其血清酶、胸片、心电图、 心脏彩色超声、肌肉组织活检及抗肌萎缩蛋白基因突变检测等结果。结果 先证者及家系成员患者符合假肥大肌营养不良症诊断,但以心脏扩大为首发症状,表现为心肌酶谱异常,心电图异常,心彩超提示扩张型心肌病,同时骨骼肌受累不明显,基因检测提示先证者及家系成员患者携带抗肌萎缩蛋白基因外显子40的无义突变[c.5632C>T, p(Gln1878^*)]。结论 该家系成员患者符合X连锁扩张型心肌病诊断,患者存在新发的抗肌萎缩蛋白基因无义突变。

Objective To summarize the genetic and clinical characteristics of a family with Duchenne muscular dystrophy (DMD) with cardiac damage as the first symptom. Methods The results of clinical observations, laboratory tests, chest radiographs, electromyography, echocardiography, muscle tissue biopsies, and DMD gene mutations were collected. Results Patients with probands and family members met the diagnosis of DMD. However, cardiac enlargement was the first symptom, presenting as abnormal myocardial enzyme spectrum, abnormal electrocardiogram, and dilated cardiomyopathy in echocardiography, while skeletal muscle involvement was not obvious. One nonsense pathogenic mutation c.5632C>T, p(Gln1878^*) of exon 40 in the DMD gene was identified in the patients with probands and family members. Conclusion The patients of this family met the diagnosis of x-linked dilated cardiomyopathy, and a new nonsense pathogenic mutation of DMD gene was identified in this family.

目的 探讨小脑延髓池注射纳洛酮对心肺复苏大鼠脑神经保护的作用机制。方法 将30只雄性SD大鼠随机分为假手术组、常规复苏组和纳洛酮复苏组。采用窒息法建立大鼠心脏骤停模型,复苏的同时给予药物治疗。恢复自主循环(ROSC)后24 h取脑组织,荧光定量PCR法检测脑组织c-Fos mRNA表达水平,免疫组化法检测脑组织c-Fos蛋白的表达。结果 与常规复苏组比较,纳洛酮可显著降低大鼠脑组织c-Fos mRNA及蛋白表达量(P<0.01)。结论 小脑延髓池注射纳洛酮可及时有效的作用于c-Fos基因,发挥脑神经保护作用。

Objective To investigate the neuroprotective mechanism of naloxone injected into cisterna magna on cerebral ischemia-reperfusion. Methods Thirty adult male SD rats were randomly divided into sham group, conventional cardiopulmonary resuscitation (CPR) group and naloxone CPR group. Asphyxiation was used to set up rat cardiac arrest model, and corresponding drugs were given when the resuscitation was carried out. The Brain tissues were taken at 24 h after restoration of spontaneous circulation(ROSC). Fluorescence quantitative polymerase chain reaction (PCR) and immunohistochemical was used to detect the expression of c-Fos proteins was used to detect the expression of c-Fos mRNA level. Results Compared with the conventional CPR group, Naloxone could significantly decrease the expression of c-Fos protein and c-Fos mRNA in rat brain. Conclusion Naloxone injected into cisterna magna can promptly and effectively act on c-Fos gene, playing a neuroprotective role.