Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To search for A3243G point mutations in mitochondrial DNA (mtDNA) from 10 cases of mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS).</p><p><b>METHODS</b>Using PCR-restriction analysis, we investigated A3243G point mutations in mtDNA of muscle and/or blood cells from 10 patients and their 8 maternal relatives. We also quantitated the A3243G mtDNA in samples harboring the mutation.</p><p><b>RESULTS</b>A3243G point mutations were identified in all muscle and/or blood samples from 10 MELAS patients. The proportion of mutant mtDNA was 10.8%-47.8% in blood (7 cases), and 39.4%-67.7% in muscle (5 cases). This ratio was invariably higher in muscle than in blood from two patients whose blood and muscle samples were both available. Younger patients usually carried higher proportions of A3243G mutant mtDNA in blood. Eight maternal relatives from 6 families were also examined. Maternal transmission of the disease could be identified in one family. No A3243G point mutations were found in mothers' blood from 3 families and siblings' blood from 2 families.</p><p><b>CONCLUSIONS</b>All 10 MELAS patients were found to have the mtDNA A3243G mutation in their muscle and/or blood. The A3243G mutation seems to be sporadic in 5 of the families examined, suggesting the mechanism of de novo mutation for the pathogenesis of their MELAS syndrome.</p>

脑卒中就诊时间延迟因素分析 / 中国康复理论与实践

@#目的分析影响急性脑卒中就诊时间的相关因素。方法对326例急性脑卒中患者或家属进行问卷调查,用多变量对数回归分析模型统计不同变量和就诊时间的独立关系。结果发病6小时内就诊的患者占51.5%。就诊延迟主要与病情严重,患者对脑卒中症状的认识缺乏有关。年龄、首诊医院亦与就诊时间有关。结论对公众进行卒中症状及早期就诊重要性的教育是必要的。

Study on genetic origin of mitochondrial dysfunction in patients with mitochondrial myopathy / 临床神经病学杂志

Objective To study the genetic origin of mitochondrial dysfunction in patients with mitochondrial myopathy.Methods The esphagus carcinoma cells were cultured by ethidium bromide, and established stabile,cell line of long term survival mitochondrial DNA(mtDNA).The platelets of patients with mitochondrial myopathy and the normal controls were carried out cell fusion.the mitochondrial function of fusion cell was determined. Results The esphagus carcinoma cells were cultured by ethidium bromide for 12 days, the cells were completely depleted of mtDNA,which can be passed stably. The respiratory capacity of transformants derived from patients with mitochondrial myopathy was lower than those from the control.Conclusion The mtDNA mutation can play a role in the pathogenesis of mitochondrial myopathy.

Autosomal dominant pigmentary type of orthochromatic leucodystrophy / 中华神经科杂志

Objective Autosomal dominant pigmentary type of orthochromatic leucodystrophy (POLD) is a rare disease characterized pathologically by demyelination and an appearance of pigmentary glial and scavenger cells in cerebral white matter. We reported a northern Chinese family with autosomal dominant POLD. Methods Brain,skin and muscle biopsies as well as brain postmortem examination were performed in proband patient. Results Proband patient,a 39-year-old woman suffered a progressive motor disturbance,dysarthria and dysphagia,accompanied with respiratory difficulty and incontinence. She died after a disease interval of 2 years. Her father,uncle and two sisters also died of similar symptoms. The onset of disease occurred in between 34～56 years old and had an interval of 1～4 years. CT showed periventrically multifocal hypodensity lesion in all three women. MRI showed multifocal lesions in parietal and frontal white matter and there appeared hypodensity on T 1 weighted scan and hyperdensity on T 2 weighted scan. Diffuse demyelination,disappearance of axons,appearance of macrophages,proliferation of astrocytes and decrease of oligodendrocytes were found in the parietal and frontal white matter. Macrophages and glial cells contained lipopigments,which ultrastructurally consisted of membrane bounded intracytoplasmatic inclusions with fingerprint pattern,curved or straight parallel arrangement. The same lipopigments were also observed in brain biopsy specimens,but not in muscle and skin tissues. Conclusion Clinical and neuropathological findings confirmed that this family should be a case of having autosomal dominant POLD. Because the pathological changes found predominantly in glial cells in white matter and the eosinophilic lipopigments in glial cells presented with morphological features of lysosomes,the POLD should be a glial lysosomal disorder.

The treatment by using rivastigmine for patients with Alzheimer disease: results of a multicenter,randomized,open-labeled,controlled clinical trial / 中华神经科杂志

0 05) The overall incidence of adverse effects was between 12 9% and 28 8% There were no significant differences between these two groups Rivastigmine had no influence on vital signs and laboratory indexes Conclusion Rivastigmine may significantly improve the symptoms of the patient with AD and have a good safety and tolerability,being an ideal choice in treating AD

Hereditary pyramidal tract, corpus callosum and peripheral degeneration, one family report / 中华神经科杂志

Objective To report on an autosomal recessive pyramidal tract, corpus callosum and peripheral nerve degeneration in a family and to study its relationship with other complicated hereditary spastic paraparesis. Methods Neurological examination revealed the following findings. Proband was a 20 year old man who spoke slowly and developed mental retardation in his childhood. Gait disturbance with pyramidal signs and mild cerebellar ataxia were found when the patient was 16. Slight sensory disturbance was present in the lower extremities. His 23 year old sister had similar symptoms at beginning of disease when she was 17. Their clinical courses were bad progressively. Electromyogram showed nerve conduction velocity decrease in the nerve medianus and neurogenic process in the muscle tibialis anterior. Cranial MRI, muscle and nerve suralis biopsies were examined in proband patients. Results MRI showed thin corpus callosum with cerebral and cerebellar atrophy as well as enlargement of ventricle system. Myopathological findings were characterized by angular atrophy fibers in small groups with appearance of hypertrophy fibers. The nerve suralis biopsy showed degeneration and regeneration of myelinated axons. Conclusion Our study confirms that this family is hereditary spastic paraparesis with mental retardation, thin corpus callosum and polyneuropathy reported mostly in Japan. Axonal polyneuropathy is a common pathological feature of this disease.

Clinical and pathological changes of neuromuscular complications in 7 Sjogren's syndrome cases / 中华神经科杂志

Objective To study the clinical features and pathological changes of muscles and peripheral nerves in Sjogren's syndrome cases accompanied with neuromuscular complications. Methods The muscle and peripheral nerve biopsies of 7 cases were performed and the specimens were tested by using histochemical and electron microscopic methods. Results The results revealed that myelinated fiber number in peripheral nerves was severely decreased in 2 cases, and the manifestations of atrophy, necrosis, vasculitis and mononuclear cell inflitration could be found in the muscle tissues in 5 cases. Conclusions The neurologic complications of Sjogren's syndrome appear commonly and early. The muscle and peripheral nerve biopsies indicate that complications and its degree,in patients with Sjogren's syndrome should be early diagnosed and treated.

Production of nitric oxide and change of nitric Oxide synthase activity in brains mitochondria of the rats with focal cerebral ischemia/reperfusion / 中国病理生理杂志

AIM and METHOD:To determine the production of nitric oxide(NO) and change of NO synthase(NOS) activity in mitochondria isolated from the rat brains of the ischemia/reperfusion rat model produced by transient occlusion of middle cerebral artery on the following the points: 2 h after occlusion of artery and 30 min, 2h, 4h after reperfusion. RESULTS: After the occlusion of middle cerebral artery, the respiratory control rate(RCR) of mitochondria significantly decreased and slightly increased at 4h after reperfusion. Meantime, the production of NO in mitochondria increased significantly. But with the increase of perfusion, production of NO gradually decreased and reached normal level as in the control group. It also shows that cerebral ischemia increased NOS's activity significantly in the mitochondria and still kept a higher level than the control group although it decreased gradually after reperfusion. But the iNOS's activity did not show obvious change. The change of total NOS's activity depends on the change of cNOS's activity. CONCLUSION: The activation of NO/NOS system in the mitochondria might play an important role in the reperfusion injury during reperfusion of ischemic brain.