中国西南地区散发性肌萎缩侧索硬化症患者的临床特征

目的 研究中国西南地区散发性肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)患者的临床特征.方法 分析我院2006年5月到2009年1月收治的成年发病的散发性ALS患者临床资料,并进行连续性的随访6个月.结果 纳入198例患者,男128例,女70例.平均发病年龄(51.6±11.3)岁,诊断时间(16.9±15.5)个月,病程(36.9±25.2)个月,其中42例患者(21.2%)在随访过程中死亡.本组病例以脊髓症状起病的患者较延髓症状者多(161∶ 37),且发病年龄(49.9±11.2 岁)明显早于以延髓症状起病患者(59.0±8.6)岁(P<0.001).在连续性随访中,患者的症状均逐渐加重,每3个月ALSFRS评分 (ALS Functional Rating Scale)逐渐减低(27.7±8.6分 ; 20.4±6.3分, P=0.002).相关分析发病年龄与病程呈明显负关联(r2=-0.297, P<0.01),发病年龄和平均诊断时间呈明显负关联(r2=-0.241, P<0.01),病程和诊断时间之间呈明显正相关(r2=0.775, P<0.01).48例患者服用利鲁唑治疗,与未服用利鲁唑组患者生存时间无统计学差异.结论 ALS起病隐袭,表现为逐渐进展的肌无力和萎缩.中国西南地区散发的ALS患者以50～60年龄段发病为主,男性多见,以脊髓症状发病患者较多,而且脊髓症状发病者较延髓症状发病者年龄轻.发病年龄越晚,病情发展越快,患者生存时间越短.ALSFRS是评价患者功能状态和病情的进展情况的敏感指标.     

迟发性Wilson氏病

Wilson氏病(WD)主要影响青少年,而40岁以上首次出现肝脏和神经系统症状者则少见。近来Fitzgerald等描述1例年龄为55岁伴有贫血、肝功能衰竭和轻度神经系统症状的WD患者。Denny-Brown也观察到1例48岁的患者有Kayser-Fleischer环和肝     

1000/中国Huntington病241例临床特点分析

目的 全面了解我国Huntington病的临床特点 方法 电子检索中国期刊全文数据库1980~2008年收录的Huntington病病例报告,并分析其临床特点。 结果 共纳入80个研究,包括241例患者,其中男性141例,女性100例,82%的患者来自北方各省。其中97.9%有家族史,71.9%的家系存在遗传早现现象,64.6%的家系是父系遗传,35.4%为母系遗传。平均起病年龄35.2±11.5岁,其中63.9%在30岁至55岁起病,9.6%发病年龄在20岁以内。父系遗传患者发病年龄明显小于母系遗传患者的发病年龄,但男女发病年龄无明显差别。平均死亡年龄45.6±13.5岁,从发病到死亡平均病程11.6±5.6年。父系遗传与母系遗传者的死亡年龄及男女患者死亡年龄无明显差异;父系遗传与母系遗传患者及男女性患者发病到死亡平均病程无明显差异。以不自主运动起病者占69.9%,以精神症状起病者占26.5%,以智能障碍起病者占3.0%。而不自主运动起病的患者中66.4%是以全身不自主运动起病,16.4%为上肢不自主运动起病,14.7%为头面部不自主运动起病。随着病程进展,99.6％的患者有不自主运动,69.8%的患者有智能损害,39.2%的患者有精神症状。其中,肢体不自主运动合并智能障碍者占68.9 %,肢体不自主运动合并精神症状者占38.7%,不自主运动、智能障碍及精神症状合并存在者占28.3%,38.7%的患者合并构音障碍、吞咽困难、饮水呛咳等症状。70.8%的患者脑电图结果异常;18.8%的患者脑脊液报道轻度异常;70.1%的患者头CT或MRI脑萎缩及侧脑室扩大。88.9%的患者MMSE评分≦23分。所报道的患者仅22例行IT15基因检测,而且其结果均为阳性。 结论 Huntington病患者男性多于女性,绝大多数有家族史。我国北方多见,父系遗传居多。多于中年起病,年轻起病者也不罕见。父系遗传患者发病早于母系遗传患者,男女发病年龄无明显差别;病程不受父系遗传与母系遗传影响。起病症状以不自主运动最常见,其次为精神症状,智能障碍起病者罕见。肢体不自主活动、智能损害和精神症状为三大核心症状,且多合并存在,较多患者合并存在咽喉部不自主运动症状。遗传学检测应做为临床确诊该病的依据,值得临床医生重视。     

“一级症状”与情感性精神病——附199例分析

199例情感性精神病患者,28例(14.0％)具有“一级症状”。本文资料显示有、无“一级症状”的情感性精神病人在首发年龄,发病次数、病程、治疗反应,近期预后等方面无明显差异(P>0.05);而急性起病者“一级症状”频率明显高于慢性起病者(P<0.01);有阳性家族史者“一级症状”频率高于无阳性家族史者(P<0.01)。认为单以有、无“一级症状的存在作为鉴别诊断依据的观点是片面的。     

儿童癔病42例报告

一般资料 本组男19例,女23例;年龄6～14岁;全年均有发病;起病至就诊时间30分钟～3小时。 诱发因素 以上呼吸道症状(12例)及胃肠道症状(8例)为诱因者至起病相距3～7天,以精神刺激(16例)为诱因者至起病相距3小时～1天,原因不明6例。     

肝豆状核变性40例临床分析

临　床　资　料一般资料 :40例中 ,男 2 3例 ,女 17例。发病年龄 4～ 42岁 ,其中 2 0岁以下者 2 4例 ,以上 16例。肝病史 4例。同胞兄妹共患 2例 ,余无阳性家族史。角膜 K- F环阳性 36例。血清铜蓝蛋白均小于 2 0 0 mg/ L,平均 2 9.5± 16 .0 mg/ L。 2 4小时尿铜均大于 10 0μg平均 16 4.2± 38.3μg/ 2 4h。首发症状 :锥体外系症状 2 1例 ,其中头外伤后发病 2例 ;精神症状或 /和智能障碍 15例 ,肝病症状 2例 ,贫血 ,浮肿各1例。临床类型与误诊情况 :舞蹈一手足徐动症型 :误诊小舞蹈病 9例 ,抽动症和小脑病变各 1例 ;假性硬化型 :误诊帕…     

青少年肌阵挛性癫癎87例临床及治疗特点分析

目的分析青少年肌阵挛性癫的临床及治疗特点。方法对87例青少年肌阵挛性癫患者进行回顾性分析,包括家族史、热性惊厥史、发病规律、临床表现、脑电图、变化及治疗效果。结果10例(11.5%)患者亲属中有癫史,12例(13.8%)患者有热性惊厥。肌阵挛发作起病年龄(13.1±3.4)岁;伴发强直阵挛发作平均起病年龄(14.3±3.8)岁;伴失神发作平均起病年龄(10.0±3.3)岁。平均延误诊断时间2.2年。睡眠诱发、闪光诱发刺激脑电图检查可提高性放电检出阳性率。16例患者在抗癫治疗中出现了癫发作次数或强度的增加。给予丙戊酸钠单药治疗的45例(75%)患者癫发作可得到控制。结论临床工作中对该病认识不足,极易误诊,造成疾病治疗迁延不愈,甚至出现治疗中因抗癫药物选择不合理而引起癫发作增加;小剂量丙戊酸钠治疗有效。     

遗传性痉挛性截瘫患者179例的临床与遗传学特点

目的 探讨我国遗传性痉挛性截瘫(HSP)患者的临床与遗传学特点.方法 对179例中国汉族人群HSP患者的临床资料和遗传学特点进行回顾性分析.结果 共收集78个家系114例患者和65例散发患者,家族史阳性率为54.5%,未发现遗传早现现象,部分家系存在外显不全.患者中男女比例为1.84:1,平均发病年龄(18.1±14.0)岁,平均病程(12.3±11.5)年;常染色体显性遗传(AD)-HSP患者的发病年龄[(19.7±14.0)岁]较常染色体隐性遗传(AR)-HSP者[(14.5±8.8)岁]大(t=2.196,P＜0.05),病程较AR-HSP者长[分别为(17.9±14.4)年和(8.0±5.8)年,t=4.404,P＜0.01].单纯型79例,复杂型100例;AD-HSP以单纯型为主,AR-HSP以复杂型为主,两者构成比差异有统计学意义(F=19.322,P＜0.01).患者多以双下肢僵硬、不灵活起病,最常见的体征为双下肢腱反射亢进、肌张力增高和病理征阳性,其次为踝阵挛(46.9%)、双下肢肌力下降(42.5%)、足部畸形(30.7%)等;AR-HSP患者共济失调、构音障碍、智能减退和足部畸形较AD-HSP多见,泌尿系统症状较AD-HSP少见(P＜0.05).65例患者行颅脑MRI检查,发现胼胝体发育不良13例(20.0%)、小脑萎缩9例(13.8%);45例患者行脊髓MRI检查,发现脊髓变细7例(15.6%).结论 本组HSP患者多于青少年期起病,男性多于女性.AD-HSP发病晚、病程长,以单纯型为主,更易出现泌尿系统症状;AR-HSP发病早、病程相对短,以复杂型多见,多伴有共济失调、构音障碍及智能减退,影像学改变以胼胝体发育不良多见;该病存在与性别相关的临床异质性,存在"女性保护"现象.     

精神分裂症发病年龄与家族遗传的相关性分析

目的　探讨精神分裂症住院患者的发病年龄、家族遗传及其相互关系。方法　对 2 0 0 2年 1月 1日在院的精神分裂症患者 2 2 0例的发病年龄及其家族遗传情况进行回顾性研究。结果　①精神分裂症男性患者平均发病年龄为 (2 6 75± 7 85 )岁 ,女性为 (2 6 14± 7 97)岁 ;t=0 5 6 2 2 ,P =0 5 74 7。②家族史阳性患者的平均发病年龄为(2 6 84± 9 16 )岁 ,阴性患者为 (2 6 2 3± 7 2 7)岁 ;t=0 4 94 7,P =0 6 2 2 2。③男性精神分裂症患者家族遗传史阳性占 2 4 5 1% ,女性占 37 2 9% ;χ2 =4 15 ,P <0 0 5。结论　①精神分裂症发病年龄无性别差异。②家族遗传因素对精神分裂症的发病年龄无直接影响。③女性患者起病似乎更易受家族遗传因素影响 ,推测精神分裂症可能存在伴性遗传     

多巴反应性肌张力障碍32例临床分析

目的 探讨多巴反应性肌张力障碍(dopa-responsive dystonia, DRD)的临床特点.方法 对32例DRD患者从发病年龄,临床症状与体征及其治疗等方面进行回顾性分析.结果 32例患者,男10例,女22例,发病年龄为2-37岁.未成年发病多以肌张力障碍为首发症状,成年期发病多以帕金森综合征起病.未成年发病患者表现日间症状波动性大且腱反射亢进的发生率较高,而成年期发病患者姿势性震颤发生率较高.未成年发病患者中有家族史者占50%,而在成年期起病患者有家族史者占75%.以性别分组后,男性多以肌张力障碍起病,女性这一表现并不明显.对32例患者进行小剂量左旋多巴治疗,有持续明显的疗效.结论 DRD患者具有临床表现多样化的特点,临床表现与年龄密切相关.小剂量左旋多巴对DRD患者具有显著而持久的疗效.     

Diagnostic Difficulties and Treatment Implications

Summary: Differentiation between types of epileptic seizures has been aided in recent years by the introduction of intensive neurodiagnostic techniques and the development of increasingly detailed classification systems. Paradoxically, these developments have not simplified the task of matching the appropriate antiepileptic drug to a particular seizure type. It is reasonable to assume that anticonvulsant drugs will have different effects on different types of seizures, but faulty, circular reasoning can enter the picture if one also assumes that responses of seizures to different drugs signify different seizure types. There are several examples of differential diagnoses that can fall prey to this problem, including the diagnosis between partial seizures with secondary generalization and generalized tonic-clonic seizures, and the diagnosis between complex partial seizures and absence seizures with automatisms, among others. Considerations of etiology in future classification systems can further complicate the problem: should one then choose an anticonvulsant drug on the basis of individual seizure type or on the basis of the type of epilepsy? Ramifications of this issue extend even to the drug approval process. Official sanction is not given for use of a drug for a seizure type not included in the original efficacy studies, even if later scientific evidence shows that seizure type to be related to a type that is included. New trials must be undertaken. These problems arise from how we choose to classify seizures.     

Cognitive Dysfunction Associated with Antiepileptic Drug Therapy

Summary: Epilepsy is frequently associated with cognitive dysfunction. However, the reasons for this correlation are unclear. Possible influential factors include patient age; duration, frequency, etiology, and type of seizures; hereditary factors; psychosocial issues; and antiepileptic drug (AED) therapy. Whereas many of these factors are beyond the physician's control, AED therapy is one element that can be addressed in treatment decisions by recognizing the potential cognitive effects of particular AEDs. For example, phenobarbital impairs memory and concentration; phenytoin affects attention, problem solving ability, and performance of visuomotor tasks. In contrast, carbamazepine may affect concentration, while valproate would appear to have minimal effects on cognition. Moreover, cognitive effects of AEDs are amplified with coadministration of multiple anticonvulsants (polytherapy). A review of studies on the cognitive effects of monotherapy with AEDs, as opposed to those of polytherapy, provides evidence that drug-related cognitive dysfunction can be reversed if patients are switched to a simpler therapeutic regimen. Future research should be directed toward developing reliable measures for assessing and monitoring cognition, and understanding the particular cognitive side effects of each AED. Physicians also need to revise their opinions about which side effects are "tolerable" for epileptic patients.     

Carbamazepine Efficacy in Adults With Partial and Generalized Tonic-Clonic Seizures

Summary: Carbamazepine and phenytoin are drugs of choice in initial monotherapy for adult partial and secondarily generalized tonic-clonic seizures. These designations reflect the results of the Veterans Administration Epilepsy Cooperative Study Group of 1985. An earlier comparative study of carbamazepine and phenytoin by Ramsay and associates found both drugs equally effective in controlling new-onset seizures. Among the advantages of carbamazepine is that it causes relatively few cognitive and dysmorphic side effects. Its disadvantages are its unavailability in parenteral formulation and its metabolic autoinduction. The latter must be compensated for by planned dosage increases to maintain therapeutic plasma steady-state levels during the first 2 or 3 months of treatment. Carbamazepine is judged a drug of choice in the treatment of these secondarily generalized tonic-clonic seizures, and the drug of choice in children, adolescents, and women susceptible to the dysmorphic side effects associated with other anticonvulsant agents.     

Etiologic and Preventive Aspects of Epilepsy in the Child–Bridging the Gap Between Laboratory and Clinic

Summary: Four broad categories of basic phenomena are pertinent to developing ways to prevent epilepsy. These include mechanisms of epileptogenesis, ictal initiation and temporary entrainment by the seizure discharge of normally functioning brain, seizure propagation, and control mechanisms that function both to restrain the cascade of epileptic events culminating in a seizure and to arrest the epileptic event and restore the interictal state. In newborns and children, hypoxia-ischemia is a major factor leading to epileptogenesis, and several schemes are proposed to classify, quantify, and prevent hypoxic-ischemic encephalopathy. Control mechanisms must be better understood in order to develop prophylactic recommendations for epilepsy, and an experimental model of "kindling antagonism" may increase our understanding of these. Programs of prevention of seizures in children will evolve only if basic researchers and clinicians work productively together to develop an adequate understanding of factors important in epileptogenesis and antiepileptogenic control mechanisms.     

Predisposing and Causative Factors in Childhood Epilepsy

Summary: We review information from large studies of defined populations, examining the role of known factors and especially of prenatal and perinatal factors in contributing to nonfebrile seizure disorders of early childhood. We depend especially, but not exclusively, on the recently completed analyses from the Collaborative Perinatal Project of the National Institute of Neurological and Communicative Disorders and Stroke, the NCPP. About 4% of children in the NCPP who had at least one non-febrile nonsymptomatic seizure by the age of 7 years had a previous seizure during acute neurologic illness, such as meningitis or during the acute illness after trauma. Many such seizures should potentially be preventable. Of children with seizures, 10% had had a neonatal seizure and 13% had had a febrile seizure. Among the hundreds of prenatal and perinatal factors explored as predictors of childhood seizure disorders, the principal predictors identified were congenital malformations of the fetus, cerebral and noncerebral; family history of certain neurologic disorders; and neonatal seizures. In agreement with the British National Child Development Study, labor and delivery factors in the NCPP appeared to contribute very little to childhood seizure disorders. Maldevelopment, rather than damage at birth to an initially intact nervous system, appeared to be the more common mechanism. Most seizure disorders of early childhood remained unexplained by the large set of prenatal and perinatal characteristics examined.     

Anticonvulsant Drugs and Cognitive Function: A Review of the Literature

Summary: Alterations of cognitive function are separate from disturbances of behavior seen in association with epilepsy. The nature of the cognitive disability may to a certain extent depend on the seizure type. Partial seizures, mainly derived from a temporal lobe focus, impair memory tasks, while generalized seizures seem to have more effect on attentional abilities. A number of studies, reviewed in this paper, suggest that anticonvulsant drugs further impair cognitive function. Maximal impairments are seen in patients receiving polytherapy: rationalization of polytherapy improves cognitive abilities. Studies in children and adults have allowed differentiation of the effects of various commonly used antiepileptic agents. Maximal cognitive deficits are seen with. phenytoin, while phenobarbital and sodium valproate induce moderate disturbances, and carbamazepine seems relatively free from such toxicity. Further research is needed on the interrelationship between types of seizure disorders, types of anticonvulsant medications, and cognitive function.     

Effects of NMD A- and AMPA-Receptor Antagonists on Different Forms of Epileptiform Activity in Rat Temporal Cortex Slices

Summary: Lowering extracellular magnesium induces different patterns of epileptiform activity in rat hippocampus and entorhinal cortex. Short recurrent epileptiform discharges in the hippocampus are stable over time, whereas seizurelike events (SLEs) in the entorhinal cortex, the subiculum, and the neighboring neocortex develop into late recurrent discharges which are not blocked by clinically employed antiepileptic drugs. We tested the sensitivity of the different epileptiform discharge patterns to. /V-methyl-D-aspartate (NMDA)- and non-NMDA-receptor antagonists. As NMDA-receptor antagonist we used dextrorphan, ket-amine, and 2-aminophosphonovalerate (2APV); as α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA)-receptor antagonist we employed the quinoxaline derivative glutamate 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX). The findings show that the different patterns of epileptiform activity, including the late recurrent discharges, are sensitive to all NMDA-receptor antagonists. However, when dextrorphan was employed to suppress seizure-like events, later recurrent discharges did not develop during the remaining time course of the experiment. CNQX reversibly suppressed recurrent discharges in the hippocampus and SLEs in the entorhinal cortex. However, late recurrent discharges become insensitive to CNQX, even at a high concentration of 60 μM m. This finding suggests a prominent role for NMDA receptors in the generation of late recurrent discharges.     

The influence of comorbid depression on seizure severity

PURPOSE: To determine the relation between depressive symptoms and seizure severity among people with epilepsy. METHODS: A postal questionnaire was used to survey a nationwide community sample about seizures and depression. The Seizure Severity Questionnaire (SSQ) assessed the severity and bothersomeness of seizure components. The Centers for Epidemiological Studies-Depression scale categorized levels of depression. RESULTS: Respondents categorized as having current severe (SEV, n = 166), mild-moderate (MOD, n = 74), or no depression (NO, n = 443) differed significantly in SSQ scores (all p < 0.0001). People with SEV or MOD reported significantly worse problems than did those with NO depression for overall seizure recovery (mean, 5.3, 4.9, 4.5, respectively); overall severity (5.0, 4.5, 4.2); and overall seizure bother (5.3, 4.8, 4.4) (all p < 0.005). Cognitive, emotional, and physical aspects of seizure recovery also were rated worse among people with SEV than with NO depression (all p < 0.05). Symptoms of depression were significantly correlated with higher levels of all components of generalized tonic-clonic seizure severity (r = 0.33-0.48; all p < 0.0001), and partial seizures (r = 0.31-0.38; all p < 0.01). CONCLUSIONS: Clinically depressed people with epilepsy reported higher levels of perceived severity and bother from seizures, as well as greater problems with overall seizure recovery than did nondepressed people experiencing similar types of seizures. The pervasive influence of depressive symptoms on reports of seizure activity suggests that people with epilepsy should be screened for depression. These data highlight the importance of detecting and treating depression among people with epilepsy.     

Une phénoménologie de la dépendance à l'alcool. Une expérience primordiale de la « nostrité »

The phenomenological approach to alcoholism interestingly focuses on specific dynamics of interpersonal relationships displaying the founding of the Self from a primary “us” and its original basis in the human feast. Priorities for treatment intervention recommend to involve social setting and relationships of the patients, reaching their active participation to a motivational and long term group treatment, underlying the specific therapeutic effect of world exchanges. Biopsychosocial determination of alcoholism could be primarily based on components of interpersonal relationships. Regarding social background, drinking is one of the most famous supports for the achievement of the feast, a founding marker of present time. Taking an existential point of view, the feast appears as the heart of mankind because it presents a primary “us”, a plural state which indicates the beginning and founding of the Self from the others. During the feast, we regularly have to reach our Self from the “us” while avoiding two main dangers, drunkenness, an increase in the dizziness of upright verticality, and addiction, an opposite vertical surrender to alcohol and falling into in the alcoholic relapse, both situations imply a spatial domination and the disappearance of others. Treatment programs of alcohol addicts need to integrate the necessity of reaching the existential basic trust from the support of a group to the appropriation of the community which can be defined as an original “usness”.