95例运动神经元病的临床特征

目的 了解运动神经元病的临床特点.方法 回顾性分析95例运动神经元病患者的发病特点、病情进展模式及相关检查,对其进行总结分析以提高早期诊断识别率.结果 95例患者中ALS 73例(76.8％),PLS 1例(1.1％),PMA 13例(13.7％),PBP 8例(8.4％);平均发病年龄为48.85±11.02岁.上肢无力或肌萎缩首发者44例(46.3％),下肢无力或肌萎缩首发者24例(25.3％),以四肢无力或肌萎缩首发者10例(10.5％),以球麻痹症状首发者17例(17.9％).男女比例为1.26∶1.女性患者较男性更易出现球麻痹或以其作为首发症状(P＜0.05).结论 MND发病男性多于女性,起病以颈段最多,ALS最常见,电生理检测对本病诊断意义重大,需按照诊断标准进行规范的鉴别诊断以排除其他疾病.     

脑型血吸虫病87例临床分析

目的 介绍脑型血吸虫病的诊断及治疗。方法 选择87例脑型血吸虫病，对其临床资料进行回顾性研究。结果 47例行保守治疗，均痊愈出院。40例行手术治疗。28例术后恢复良好，无手术死亡。结论 头颅CT检查对脑型血吸虫病的诊断有很重要的价值。脑型血吸虫病的治疗以药物治疗为主。对有明显的颅内高压表现或药物治疗无效者则考虑手术治疗。     

伴瘤周水肿脑膜瘤的显微手术治疗(附87例报告)

目的探讨伴瘤周水肿脑膜瘤患者瘤周水肿的形成机制及手术治疗策略。方法对87例经显微手术治疗的伴瘤周水肿脑膜瘤患者的临床资料进行回顾性分析。结果显微镜下肿瘤全切(SimpsonⅠ～Ⅱ级)75例,次全切及大部分切除(SimpsonⅢ、Ⅳ级)12例,无手术死亡及严重并发症发生。本组失随访9例,其余78例平均随访30个月,复发4例。结论根据肿瘤的部位、大小、瘤周水肿和占位效应的程度在术前、术中合理使用脱水药和激素;再根据术中的脑组织肿胀、糜烂、搏动、重要静脉保护的情况决定骨瓣的还纳与否,并辅以良好的术后管理,可取得良好的手术效果。     

山西省165例运动神经元病临床特征及误诊分析

目的研究运动神经元病(MND)的临床特征及误诊分析。方法回顾性分析165例MND患者的一般资料、临床症状、误诊、肌电图、辅助检查等,进行统计分析。结果入组患者165例:ALS 122例(73.9%),其中确诊ALS 101例,临床或电生理拟诊ALS 21例;PMA 26例(15.8%);PBP 15例(9.1%);PLS 2例(1.2%)。男女比例为1.84∶1。MND患者发病年龄为20~80岁,平均发病为52.15±10.41岁,男女发病高峰均为50~59岁,二者差异没有统计学意义(P0.05)。山西省MND误诊率为42.42%(70/165),误诊为脑血管病的35.7%(25/70),误诊于基层医院77.1%(54/70)。结论 MND发病男性多于女性,山西省男性患病比例较国内相关报道高,发病年龄集中在50~59岁;分型中ALS是最常见的类型;MND误诊率高,脑血管病误诊居首位,误诊多发生在基层医院;影像学及电生理检查对MND的诊断有重大意义,临床上应积极完善相关辅助检查。     

Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)

Pathological studies of mice homozygous for the motor neuron degeneration (Mnd) mutation show abnormalities similar to those of the human neuronal ceroid lipofuscinoses: sudanophilic, autofluorescent intraneuronal inclusions that are immunoreactive with antibodies to subunit c of mitochondrial ATP synthase. Ultrastructurally, the inclusions have the pentalaminar structure characteristic of some forms of human neuronal ceroid lipofuscinosis and of canine and ovine models of neuronal ceroid lipofuscinosis. Similar inclusions are observed in many somatic organs and in the retina, which develops photoreceptor degeneration. This mutation, previously considered a model of amyotrophic lateral sclerosis, may be a useful model for molecular and genetic studies of human neuronal ceroid lipofuscinosis because mice have been well characterized genetically. Since they are inexpensive to breed and maintain, they can also be used to test therapeutic interventions.     

Parasuicide in Pakistan: experience at a university hospital

Khan MM, Islam S, Kundi AK. Parasuicide in Pakistan: experience at a university hospital. Scand 1996: 93: 2644267. © Munksgaard 1996. There have been few reports of parasuicide from Pakistan, where the act is considered to be a criminal offence and the Islamic religion strongly disapproves of it. In order to address the problem, a retrospective case report analysis of all index cases of parasuicide presenting over a period of 3.5 years to a university hospital in Karachi, Pakistan, was undertaken. Our results showed that most of the subjects were young adults, with married women representing the single largest group. Self-poisoning with medication was the most common method, and benzodiazepines the most frequently used drug. Interpersonal conflict with the opposite sex was the most common precipitating cause. In Pakistani culture, marriage appears to be a significant source of stress for women. Reports based on official police records do not reflect the true picture of the problem in Pakistan.     

Motor neuron disease and malignancies: results of a population-based study

Summary Eight cases of malignancies with concurrent motor neuron disease (MND), derived from an unselected population representing all cases of MND diagnosed during a 15-year period in two Italian provinces, were studied to verify the existence of paraneoplastic forms of the disease. No statistically significant association between the two diseases was found. Therefore, from our findings the occurrence of a neoplasm in a patient affected by MND can be considered a chance association.This work was partly supported by CSI — Piemonte (Consorzio per il Sistema Informativo)     

Rett's syndrome: analysis of the 1st 5 cases diagnosed in Brazil

Five cases of patients with the Rett syndrome are reported. The criteria for this diagnosis in these cases are discussed. These are the first cases of the Rett syndrome reported in Brazil and the authors call attention to the fact that this syndrome seems to be in our country as frequent as in USA, Europe and Japan where it has been more studied.     

Subacute sclerosing panencephalitis (SSPE): an insight into the diagnostic errors from a tertiary care university hospital

Subacute sclerosing panencephalitis (SSPE) is a progressive disease caused by wild-type measles virus leading to premature death. Early diagnosis may help in medical interventions and counseling. The aim of this study was to ascertain diagnostic errors and their possible causes. Retrospective case record analysis of patients with subacute sclerosing panencephalitis, evaluated over a 10-year period, was performed. The following data were analyzed: initial symptoms and diagnosis, interval between onset of symptoms to diagnosis, and implications of delayed diagnosis. Among the 307 patients evaluated, initial diagnosis by various health care professionals was other than subacute sclerosing panencephalitis in 242 patients (78.8%). These included seizures, absence seizures, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others. The interval between precise diagnosis and first reported symptom was 6.2 +/- 11.3 months (range, 0.2-96 months; median, 3 months). Forty-four patients (14.3%) who had symptoms for more than 1 year before the precise diagnosis had a protracted course as compared to the rest of the cohort ( P = .0001). Early and accurate diagnosis of subacute sclerosing panencephalitis needs a high index of suspicion.     

Dementia in Saudi Arabia: experience from a university hospital

Objectives - To describe the pattern of presentation, the types of dementia and the associated conditions in Saudi patients. Materials and methods -Hospital-based study using DSM-IV and ICD 10 criteria for consensus diagnosis of cases from clinical information and results of investigations. Dementia subtypes were made according to NINCDS-ADRDA, NINDS-AIREN and ICD 10 criteria while CDR was used for severity grading. Results - A total of 77 demented patients (49 males, 28 females) were studied. The hospital frequency was 19.3/100,000 patients. The mean age at presentation was 74.6 years and age at onset was below 65 years in 17 patients. The types of dementia were: Alzheimer's disease (51.9%), vascular dementia (18.2%), mixed cases (15.6%), dementia with Parkinson's disease (7.8%) and treatable dementia (5.2%). Only 3 patients were in the severe clinical stage and infections were important causes of deterioration. Conclusion - The hospital frequency appears to be low probably because of the relatively young population. The pattern of dementia with preponderance of AD is similar to that in western countries and intervention directed at the risk factors for stroke could reduce the burden of vascular dementia.     

Economic analysis of an epilepsy outreach model of care in a university hospital setting

The prevalence of epilepsy in people with intellectual disability is higher than in the general population and prevalence rates increase with increasing levels of disability. Prevalence rates of epilepsy are highest among those living in residential care. The healthcare needs of people with intellectual disability and epilepsy are complex and deserve special consideration in terms of healthcare provision and access to specialist epilepsy clinics, which are usually held in acute hospital campuses. This patient population is at risk of suboptimal care because of significant difficulties accessing specialist epilepsy care which is typically delivered in the environs of acute hospitals. In 2014, the epilepsy service at Cork University Hospital established an Epilepsy Outreach Service providing regular, ambulatory outpatient follow up at residential care facilities in Cork city and county in an effort to improve access to care, reduce the burden and expense of patient and carer travel to hospital outpatient appointments, and to provide a dedicated specialist phone service for epilepsy related queries in order to reduce emergency room visits when possible. We present the findings of an economic analysis of the outreach service model of care compared to the traditional hospital outpatient service and demonstrate significant cost savings and improved access to care with this model. Ideally these cost savings should be used to develop novel ways to enhance epilepsy care for persons with disability. We propose that this model of care can be more suitable for persons with disability living in residential care who are at risk of losing access to specialist epilepsy care.