目的 探索老龄化形势下广州市白云区西部卒中防治工作的新模式。方法 通过完善组织结构、管理架构、建立稳定高效运行的(1+1+N)紧密型医联体模式,创建优质高效的卒中救治区域联盟,实现高质量的基层首诊,双向转诊,快速响应的卒中绿道急救和全程管理。结果 初步完成构建广州市白云区西部区域性卒中救治中心,区域内卒中患者及时救治,溶栓效率,血管再通等均有显著提升,整体提升白云区西部医疗机构的卒中救治水平。结论 区域性的协同救治是提高卒中救治水平的重要举措。(1+1+N)紧密型医联体模式能提高卒中患者救治率,具有可行性和必要性。

Objective To explore the effectiveness of a new stroke prevention and treatment pattern in the western part of Baiyun District, Guangzhou city, under an aging situation. Method We aim to build a high-quality and efficient stroke treatment regional alliance based on a (1+1+N) compact medical consortium, expecting to improve the overall abilities of stroke treatment in the western part of Baiyun District through high-quality primary care, two-way referrals, rapid response to stroke greenway emergency and full-process management. Results We have initially established a regional stroke treatment center in the western part of Baiyun District, Guangzhou. Stroke patients in that region can be treated in time, and the efficiency of thrombolysis and vascular recanalization have been significantly improved. Conclusion Regional coordinated treatment is an effective measure to reduce the disability and fatality rate of stroke. The (1+1+N) compact medical consortium model can improve the treatment effect in stroke patients, which is feasible and necessary.

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 探究磁敏感加权成像(SWI)对帕金森病(PD)与血管性帕金森综合征(VPS)的鉴别诊断价值。方法 回顾性分析我院2013年1月—2016年12月收治的30例PD患者(PD组)和30例VPS患者(VPS)组SWI分析结果,比较两组患者的脑椎体外系各核团的相位值差异,同时将两组患者的测量值与来我院行常规体检的正常者作为对照组进行测量比较。结果 PD组患者的黑质致密带(SNc)、苍白球(GP)、壳核(PUT)相位值较VPS组、对照组更低,组间数据对比有差异(P<0.05);而对照组的SNc、GP、PUT的相位值与VPS组相比无差异(P>0.05);三组对象的红核(RN)、尾状核(CN)测量值无差异(P>0.05);采用Hoehn&Yahr对PD患者和VPS进行分级后发现,各级PD患者SNc相位值之间差异均有统计学意义(P＜0.05),VPS组Ⅰ~Ⅱ级、III级与IV级患者相比,SNc、PUT、尾状核(CN)有统计学差异(P<0.05),而RN相位值无差异(P>0.05)。结论 采用磁敏感加权成像对PD患者和VPS患者的椎体外系各核团的相位值进行测量,能对两者的鉴别起到较大的参考价值。

Objective To explore the value of magnetic susceptibility weighted imaging (SWI) in the differential diagnosis of Parkinson's disease (PD) and vascularized Parkinson's syndrome (VPS). Methods The results of SWI analysis of 30 patients with PD (PD) and 30 patients with VPS (VPS) from January 2013 to December 2016 were retrospectively analyzed. The results were compared between the two groups. Of the phase value of the difference between the two groups of patients with the measured values and routine examination of our hospital as a control group for comparison. Results The phase values of the substantia nigra (SNc), globus pallidus (GP) and crustal nucleus (PUT) were significantly lower in the PD group than in the VPS group and the control group (P <0.05).There was no significant difference in the GP and PUT values between the control group and the VPS group (P> 0.05).There was no significant difference in the red nuclei (RN) between the three groups (P> 0.05).There was significant difference in SNc phase values between PD patients at all levels (P <0.05). Compared with patients with grade IV, grade I and II were higher than those of patients with grade IV (P <0.05), and the difference was statistically significant (P <0.05) between PD patients and VPS. (P <0.05), but there was no significant difference (P> 0.05) between the PUT and the caudate nucleus (CN). Conclusion The phase value of the nucleus of the vertebral body in PD patients and VPS patients was measured by magnetic susceptibility weighted imaging, which could be used as a reference for the identification of the two.