有机磷中毒迟发性神经病神经活检病理研究

报告5例有机磷中毒迟发性神经病的神经活检病理研究。病人周围神经受损症状和体征在有机磷中毒后2－4周出现，以四肢远端为主，下肢重于上肢，运动障碍明显。腓脑神经活检显示髓鞘脱失、轴索肿胀。     

副肿瘤性周围神经病的临床、电生理及病理改变特点

目的探讨副肿瘤性周围神经病(PPN)的临床、电生理及病理改变特点。方法回顾性分析4例PPN患者的临床资料。结果 4例患者均以疼痛、麻木等感觉症状起病,其中3例首先累及双下肢,3例双下肢不对称受累,3例累及植物神经,2例累及颅神经,所有患者周围神经症状均由远端向近端进行性发展。4例患者均出现感觉神经传导异常,其中3例以轴索损害为主,1例以脱髓鞘损害为主;1例伴有运动神经传导异常,以脱髓鞘损害为主。4例行腓肠神经活检的患者中,3例为活动性轴索改变,1例为轴索和髓鞘混合性改变,4例均无小血管周围炎性改变。结论 PPN多为不对称分布的感觉神经病,进行性发展,颅神经和植物神经受累常见。PPN的电生理以感觉神经传导异常为主、轴索损害较重。活动性轴索变性是PPN的主要病理改变,极少伴有小血管周围炎。     

腊肠体样周围神经病的临床和病理

报告４例经腓肠神经活检病理证实的腊肠体样周围神经病，以提高该病的临床认识和诊断能力。方法局麻下做腓肠神经活检，活检标本分别做ＨＥ和Ｍａｓｓｏｎ染色；髓鞘染色；剥离单神经；半薄和超薄切片，分别在光镜或电镜下观察。结果４例均为男性，１３～２１岁发病，其中３例有家族史，临床特征为反复发生的轻微机械性压迫或牵拉后单神经麻痹。电生理检查显示广泛性周围神经损害，传导速度明显减慢。临床符合遗传性压迫易感性麻痹神经病和痛性臂丛神经病。腓肠神经活检可见少数明显增粗的有髓纤维，直径达２０～２８μｍ，髓鞘增厚，而轴索正常，还可见到薄髓纤维。剥离单神经纤维可见局灶性髓鞘增厚，形似腊肠样。电镜下见到髓鞘板层层数增多，无轴索变性，雪旺细胞和无髓纤维未见明显异常。结论腊肠体样周围神经病有周围神经髓鞘发育缺陷，使周围神经易于损伤，是多发性单神经病的病因之一。     

神经活检在周围神经疾病诊断中的意义及与电生理检查相关性分析

目的探讨神经活检在周围神经病诊断中的意义,并分析病理检查与神经电生理检查结果的一致性。方法收集2009-2011年作者医院行腓肠神经活检的16例周围神经病患者的临床诊断、电生理诊断和病理诊断资料;分析电生理诊断、光镜诊断和电镜诊断在判断轴索损害或/合并髓鞘损害的一致性,并分析其结果不一致的可能原因。结果电生理检查结果示异常12例(12/16),其中表现为轴索损害为主5例(5/16),髓鞘损害为主7例(7/16);病理检查结果示15例(15/16)患者有不同程度的髓鞘或轴索损害;4例(4/16)患者经神经活检后原有的诊断得到了补充或修改;进一步分析神经病理对于周围神经损害的诊断与电生理诊断无统计学差异。结论 (1)神经活检能够发现一些间质改变和亚临床、亚电生理的神经损害,从而对疾病的认识和治疗提供帮助。(2)神经病理对于周围神经损害的诊断与电生理诊断相关性较好,但当电生理表现为轴索损害时其一致的趋势欠佳,可能与轴索损害的多样性有关。     

鸡甲胺磷中毒性迟发性神经病的电生理特点及药物干预研究

目的探讨鸡甲胺磷中毒性迟发性神经病的电生理特点及地塞米松、三磷酸胞苷二钠对其治疗的效果。方法给莱亨母鸡灌注甲胺磷制作有机磷中毒迟发性周围神经病(OPIDN)模型,在染毒后分别用地塞米松(A组)、三磷酸胞苷二钠(CTP)(B组)及生理盐水(C组)肌肉注射。观察各组死亡率及行为学表现;染毒后1、2、3、4、8 w取鸡坐骨神经进行电生理检测。结果甲胺磷致迟发性神经病早期表现波幅降低,继之出现运动神经传导速度减慢,但各组间比较差异无显著性。结论 (1)鸡甲胺磷中毒性迟发性神经病早期以轴索损害为主,继之出现脱髓鞘损害。(2)地塞米松及三磷酸胞苷二钠未能阻止迟发性神经病的发生。(3)本病有自愈倾向,远期预后较好。     

急性感觉性神经元神经病两例的临床病理观察

目的明确感觉性神经元神经病（SND）的临床表现、神经电生理、颈椎核磁共振的影像学特点以及皮肤神经活检、腓肠神经活检和脊髓后索病变的病理学特征。方法分析2例胃肠道感染后死于SND的患者的临床与辅助检查资料，后者包括神经电生理检查、周围神经和脊髓的尸检病理，结合相关文献进行复习。结果患者独特的临床表现为早期出现共济失调，广泛分布的感觉减退和腱反射减低。电生理检查见感觉神经动作电位广泛异常，与神经纤维长度无关。SND患者脊髓后索髓鞘脱失，腓肠神经活检可见以大有髓纤维为主的神经纤维丢失，无再生神经丛。本组2例患者颈椎磁共振检查结果正常。结论SND独特的临床表现与神经电生理检查特点提示周围感觉神经纤维广泛受累。脊髓后索尸检病理证实感觉神经中枢传导纤维变性脱失，支持病变位于脊髓后根神经节。SND早期颈椎磁共振可能正常。     

慢性炎症性脱髓鞘性多神经病的轴索损害

目的探讨慢性炎症性脱髓鞘性多神经病（CIDP）的轴索病理改变。方法对18例CIDP患者进行电生理和腓肠神经的病理检查，分析不同患者的腓肠神经病理改变特点，并对病理改变不同的两组进行临床、电生理及病理比较。结果5例以脱髓鞘改变为主者，主要出现薄髓鞘神经纤维和有髓神经纤维的洋葱球样结构，其中3例出现轴索损害。8例以轴索损害为主者，主要出现有髓神经纤维的Wallerian变性和再生簇结构。3例出现有髓神经纤维的髓鞘和轴索混合性损害。2例轻微病理改变。脱髓鞘损害为主者和轴索损害为主者的单核细胞浸润程度无明显差异，且两者可同时存在脱髓鞘和轴索损害的电生理改变特点。结论轴索损害是CIDP比较常见的病理改变，不应当作为该病的绝对排除标准。单核细胞的浸润是一种普遍改变。     

腊肠体样周围神经病的临床、电生理和病理特点

目的总结腊肠体样周围神经病的临床、电生理和病理特点。方法收集3例患者病史、体格检查以及电生理检查及病理检查资料。结果3例患者中男2例、女1例,13～28岁发病,阳性家族史2例;机械性压迫或牵拉后导致双侧腓总神经麻痹1例,隐袭和慢性起病各1例。电生理检查可见广泛的周围神经损伤,正中神经运动传导远端潜伏期（DML）均延长。腓肠神经活检均可见少数明显增粗的有髓神经纤维,电镜下可见髓鞘板层数增多。1例患者肌肉活检示轻微病理改变。结论腊肠体样周围神经病为周围神经髓鞘发育障碍所致,神经电生理和神经病理对诊断有特异性。     

神经活检在周围神经疾病诊断中的意义及与电生理检查相关性分析

目的探讨神经活检在周围神经疾病诊断中的意义,以及神经活检与电生理检查的相关性。方法 12例周围神经病患者均予腓肠神经活检、神经电生理检查,比较二者对轴索、髓鞘损害的诊断情况,统计电生理检查与神经活检诊断的符合率。结果 (1)电生理检查结果检出轴索损害/髓鞘损害9例,神经活检结果发现11例患者伴有髓鞘或轴索损害。(2)神经活检对于周围神经疾病诊断有决定性意义有3例,其余9例也均起到了证实临床诊断的作用。(3)光镜诊断、电镜诊断与电生理检查结果比较无明显差异(P>0.05)。结论神经活检技术对于发现间质改变及亚临床、亚电生理神经损害有明显优势,对于判断周围神经疾病患者的损害类型仍需联合电生理检查进行综合诊断。     

线粒体肌病合并周围神经病的临床病理研究

目的:分析线粒体肌病合并周围神经病的临床特点、电生理和病理特征。方法:对10例肌肉活检确诊为线粒体肌病同时又合并周围神经病的患者从临床症状与体征、电生理检查和腓肠神经活检等几方面予以分析,并探讨周围神经病的病理基础。结果:本组10例患者中1例仅有临床下受累,另外9例表现为轻中度感觉运动性周围神经病,以感觉症状为重。结论:对线粒体肌病患者应将详细的神经系统查体与神经电生理检查相结合,提高周围神经病的检出率。电生理检查和腓肠神经活检有助于诊断。周围神经病的发病机制可能与线粒体功能异常有关。     

Interactions of valproic acid with phenytoin

The interaction of phenytoin and valproic acid was studied in four adults. We studied serial changes in total phenytoin concentrations, protein binding, urinary hydroxyphenylphenylhydantoin (HPPH) excretion, and half-life. In all four patients valproic acid caused an increase in the free fraction of phenytoin. Total phenytoin plasma concentrations decreased transiently in three patients and remained low throughout the study period in one patient. HPPH excretion increased transiently and then decreased, corresponding to changes in total phenytoin plasma concentrations. Biologic half-life transiently decreased in three patients (not statistically significant) and subsequently increased significantly in all four patients. The data suggest that valproic acid displaced phenytoin from protein-binding sites in all four patients and subsequently inhibited phenytoin metabolism in three patients.     

Clinical features and surgical management of four peculiar cases of intracranial metastases from renal cell carcinoma

Intracranial metastasis from renal cell carcinoma is rare. In this study, four patients (age range 56–72 years) were treated for intracranial metastases from renal cell carcinoma. The metastasis was solitary in all four patients and was located in the temporoparietal region in two patients, cerebellum in one patient, and bilateral lateral ventricles in one patient. Preoperative magnetic resonance imaging showed hemorrhage and necrosis in the tumor in all four patients, and one patient had edema in the region of the tumor. All patients were treated with craniotomy for tumor resection, and histopathologic examination showed clear cell carcinoma. Marked bleeding occurred in all patients during the operation, but preoperative direct injection of ethanol into epidural metastases (2 patients) was effective in decreasing intraoperative blood loss. Prognosis was poor with limited survival time (range 2 weeks–45 months), but prognosis was best in the two patients who were treated with postoperative radiation therapy and chemotherapy (survival times 26 and 45 months). To our knowledge, this is the largest report of four uncommon intracranial metastases from RCC in Chinese patients. In summary, intracranial metastasis from renal cell carcinoma should be considered in the differential diagnosis of intracranial tumor because of the high risk of bleeding and poor prognosis.     

Myelin basic protein binding cells in active multiple sclerosis

A sensitive, antigen-specific rosetting technique was used to enumerate blood cells that bind myelin basic protein (BP) in MS patients and controls. Sixteen of 23 MS patients in exacerbation but only 7 of 48 in remission formed elevated numbers of rosettes. Five of the latter 7 patients had recovered from an exacerbation within four months of the laboratory evaluation. Eight of 20 patients with progressive MS, all of whom had had disease for more than four years, had BP rosette-forming cells. None of the 16 normal volunteers and 1 of 8 neurological controls had BP rosette-forming cells. These results suggest that BP-binding cells in MS are confined to patients in acute exacerbation or within four months of activity, and those who have had progressive disease for at least four years.     

Seizure Frequency in Intractable Partial Epilepsy: A Statistical Analysis

We examined the seizure records of 13 patients (nine men and four women, ages 27-50 years) with intractable partial epilepsy, maintained with steady anti-epileptic drug dosages. Patients recorded daily seizure frequency on calendars. Periods of outpatient observation ranged from 99 to 1,710 days and the number of observed seizures ranged from 18 to over 400, with daily seizure rates of 0.1-4.3 per day. We used the quasi-likelihood regression model to examine the following four departures of the daily seizure counts from a Poisson (random) model: (1) linear increasing or decreasing time trends in expected seizure rates; (2) clustering, where the expected seizure rate on a given day depends on the number of seizures observed on the immediate prior days; (3) monthly cyclicity; and (4) increased variability (overdispersion). Linear time trends were seen in six patients (four increasing and two decreasing), clustering was seen in 10 patients, and a near-monthly cycle appeared in four patients (two of nine men and two of four women). A significant amount of extra variation (overdispersion) relative to a Poisson distribution was observed in all but one of the 13 patients. Departures from a Poisson (random) model appear more common in this population of patients with medically intractable epilepsy than is commonly recognized, and have clinical importance as well as implications for the design of clinical studies.     

Sj?gren-Larsson syndrome: delta 5-and delta 6-fatty acid desaturases in skin fibroblasts

Cultured skin fibroblasts from two patients with Sj?gren-Larsson syndrome (SLS) and from a normal control were analyzed for trienoic and tetraenoic fatty acids. In addition, we assayed desaturation of [1-14C]linoleic acid in cells from four patients and four controls. There was no significant effect of the disease on the composition of polyunsaturated fatty acids or on the rate of linoleic acid desaturation in fibroblasts. The results indicate the presence of delta 5- and delta 6-fatty acid desaturases in cells from SLS patients.     

Childhood adrenoleukodystrophy. Failure of intensive immunosuppression to arrest neurologic progression

Cyclophosphamide in a dosage of 350 to 700 mg/m2/d was administered for five to 11 days to four patients with childhood adrenoleukodystrophy (ALD) and to one patient with the adult cerebral form of the disease. The rate of neurologic progression in the four patients with childhood ALD did not differ from that of 167 untreated patients with childhood ALD surveyed previously.     

Maternal origin of inv dup(15) chromosomes in infantile autism

Six male patients with infantile autism and an extra inverted duplicated chromosome 15[inv dup(15)] were reported in a previous study. These patients had four copies of the chromosome region 15pter-q13, or an inv dup(15)(pter>ql3; >q13->pter). In this new study, DNA from the families of four of the patients were analysed using Southern based RFLPs and microsatellite polymorphisms from the region. In all four cases the inv dup(15) chromosome was of maternal origin. Furthermore, the data suggests that it originated in the maternal meiotic process rather than in an early mitosis in the developmental process of the embryo. The extra chromosome contained material from both of the maternally derived 15-chromosomes. Based on the molecular data presented here, a model for the origin of chromosome markers of this type is proposed.     

Increased plasma neurotensin concentrations in patients with Parkinson's disease

Plasma neurotensin (NT) was measured by radioimmunoassay in propanol extracted and unextracted plasma from 16 parkinsonian patients (four before treatment) and 16 age and sex matched controls. Mean plasma NT concentrations were consistently higher in parkinsonian patients than in controls and higher in the four untreated patients than in levodopa treated patients suggesting that plasma NT measurement may represent an easy detectable additional index in diagnosing parkinsonism and provides a novel approach to research in this field.     

Long-Term Deep Brain Stimulation in Treatment-Resistant Obsessive-Compulsive Disorder: Outcome and Quality of Life at Four to Eight Years Follow-Up

BackgroundObsessive compulsive disorder (OCD) is a severe disabling disease, and around 10% of patients are considered to be treatment-resistant (tr) in spite of guideline-based therapy. Deep brain stimulation (DBS) has been proposed as a promising treatment for patients with trOCD. However, the optimal site for stimulation is still a matter of debate, and clinical long-term follow-up observations including data on quality of life are sparse. We here present six trOCD patients who underwent DBS with electrodes placed in the bed nucleus of the stria terminalis/anterior limb of the internal capsule (BNST/ALIC), followed for four to eight years after lead implantation.Materials and MethodsIn this prospective observational study, six patients (four men, two women) aged 32–51 years and suffering from severe to extreme trOCD underwent DBS of the BNST/ALIC. Symptom severity was assessed using the Yale-Brown Obsessive Compulsive Scale (Y-BOCS), and quality of life using the World Health Organization Quality of Life assessment scale (WHO-QoL BREF). Follow-up was obtained at least for four years in all patients.ResultsWith chronic DBS for four to eight years, four of the six patients had sustained improvement. Two patients remitted and two patients responded (defined as >35% symptom reduction), while the other two patients were considered nonresponders on long-term. Quality of life markedly improved in remitters and responders. We did not observe peri-interventional side effects or adverse effects of chronic stimulation.ConclusionsChronic DBS of ALIC provides long-term benefit up to four to eight years in trOCD, although not all patients take profit. Targeting the BNST was not particularly relevant since no patient appeared to benefit from direct stimulation of the BNST. Quality of life improved in DBS responders, documented by improved QoL scores and, even more important, by regaining of autonomy and improving psychosocial functioning.