32例肝豆状核变性临床分析

目的分析肝豆状核变性患者临床资料,提高对此病认识。方法回顾分析1994年~2004年本院收治的32例肝豆状核变性患者临床资料。结果该病从发病到确诊时间中位数4.8年,临床表现以肝损害为主13例,以神经系统损害为主11例,二者兼有8例,角膜K-F环阳性28例,血铜蓝蛋白降低30例,头颅CT阳性发现11例。结论该病从发病到确诊时间长,临床表现可以肝损害为主或以神经系统损害为主或二者兼有,血铜蓝蛋白测定、K-F环检查和头颅CT检查对诊断具重要意义。     

肝豆状核变性56例临床分析

目的回顾分析肝豆状核变性患者临床资料,总结其临床特点。方法回顾分析1994-01～2011-01本院收治的56例肝豆状核变性患者临床资料。结果该病从发病到确诊时间中位数2.6 a;临床表现以肝损害为主26例,以神经系统损害为主16例,二者兼有14例;角膜K-F环阳性42例,血铜蓝蛋白降低52例,头颅CT或MRI阳性31例。结论该病从发病到确诊时间长。临床表现主要以肝损害为主或以神经系统损害为主或二者兼有,血铜蓝蛋白测定、K-F环检查、头颅CT和MRI检查对诊断具有重要意义。     

32例肝豆状核变性临床分析

目的 分析肝豆状核变性患者临床资料，提高对此病认识。方法 回顾分析1994年-2004年本院收治的32例肝豆状核变性患者临床资料。结果 该病从发病到确诊时间中位数4．8年，临床表现以肝损害为主13例，以神经系统损害为主11例，二者兼有8例，角膜K-F环阳性28例，血铜蓝蛋白降低30例，头颅CT阳性发现11例。结论 该病从发病到确诊时间长，临床表现可以肝损害为主或以神经系统损害为主或二者兼有，血铜蓝蛋白测定、K—F环检查和头颅CT检查对诊断具重要意义。     

肝豆状核变性18例临床分析

目的分析肝豆状核变性患者的临床资料,提高对该病的认识。方法对郑州大学第二附属医院2005-01~2010-12收治的18例肝豆状核变性患者的临床资料进行回顾性分析,应用SPSS10.0统计分析软件进行统计分析,数据分析采用Fisher确切概率法,K-W检验和t检验。结果 18例患者中,肝型6例,神经型3例,肝神经型9例;K-F环阳性率为88.2%;血清铜蓝蛋白均降低;73.3%患者24 h尿铜升高;K-F环阳性率、铜蓝蛋白、24 h尿铜在不同临床类型中的差异无统计学意义。8例患者腹部彩超异常,2例头颅CT异常,8例患者头颅MRI异常。14例应用青霉胺驱铜治疗,12例症状得到不同程度缓解。结论肝豆状核变性临床表现复杂多样,差异很大,应提高对肝豆状核变性的认识,以早期诊断、治疗本病。     

脑型肝豆状核变性临床特征与MRI分析(附12例报告)

目的:探讨肝豆状核变性的临床特点与头颅MRI特征,为早期诊断及治疗提供参考。方法:回顾性归纳分析12例肝豆状核变性患者的临床表现及神经影像学特点。结果:平均发病年龄23.5岁;以锥体外系症状为首发10例;性格改变1例;学习成绩下降1例,K-F环均为阳性;头颅MRI特征为对称性基底节区、丘脑、中脑及桥脑异常信号。结论:肝豆状核变性临床表现多样,血清铜蓝蛋白检测、角膜K-F环及头颅MRI检查对诊断本病有重要意义。     

肝豆状核变性23例临床分析

目的 总结肝豆状核变性的临床特点,以减少误诊、漏诊.方法 回顾性分析23例肝豆状核变性患者的临床表现及诊治过程.结果 平均发病年龄21.5岁,首发症状以神经系统和肝损害症状为主,分别占69.6%(16/23)及26.1%(6/23),其中神经系统症状以肢体震颤、精神异常多见;18例患者临床分型为混合型,占78.3%(18/23),5例为脑型;所有患者均出现角膜色素环(K-F环);所有患者进行了铜代谢的实验室检查,血浆铜蓝蛋白水平降低及24 h尿铜增高常见.青霉胺与硫酸锌联合治疗对78.3%(18/23)的患者有效.结论 肝豆状核变性青少年多发,以神经系统和肝损害症状为主要表现,K-F环阳性率高.青霉胺与硫酸锌联合治疗对大部分肝豆状核变性患者有效.     

各种辅助检查对肝豆状核变性的诊断价值

目的探讨各种辅助检查对肝豆状核变性(HLD)的诊断价值。方法对200例确诊HLD患者的临床表现及主要辅助检查资料进行分析。结果本组患者发病年龄2~46岁,平均(17±8·6)岁;最常见的临床表现为震颤(42.5%);以脑型(122例,61%)患者最多;尿铜检查169例,均≥100μg/24h;铜蓝蛋白检查194例,均<0·15g/L,其中178例≤0·08g/L;血清铜检查84例,68例≤0·6mg/L,10例为(0·61~0·9)mg/L,6例>0·9mg/L;角膜K-F环检出率为85·5%;脑型患者肝功能异常率低于肝型患者;各型HLD患者肝脏B超均有特殊改变;头颅MRI检查79例,65例异常,病变对称,主要集中在基底节区。结论血清铜蓝蛋白是HLD最有价值的辅助检查,当其≤0·08g/L时具有独立的诊断价值;角膜K-F环对具有神经、精神症状的HLD患者具有很大的诊断价值;24h尿铜是最好的单个筛查指标,它在具有症状的HLD患者中全部升高;腹部B超、头颅MRI等影像学检查虽不能作为HLD的诊断依据,但对肝、脑的损害有提示作用。     

脑脊液铜测定在肝豆状核变性中的临床应用

目的研究肝豆状核变性患者脑脊液铜测定的临床意义。方法选取肝豆状核变性初诊患者40例进行神经症状评分,测定脑脊液铜、血清铜、尿铜、血脑屏障指数(AR值)、脑脊液烯醇化酶;正常对照20名。肝豆状核变性患者接受青霉胺治疗3个月后,再次进行神经症状评分和上述指标检查,并进行统计学分析。结果肝豆状核变性患者脑脊液铜明显高于对照组,脑型肝豆状核变性患者脑脊液铜(0.072±0.036mg/L)高于肝型患者(0.061±0.026mg/L,P<0.05)。脑型肝豆状核变性患者脑脊液铜量与神经症状评分呈正相关(r=0.282,P<0.05)。使用青霉胺治疗3个月后,神经症状加重的患者脑脊液铜较治疗前升高(治疗前:0.061±0.028mg/L;治疗后:0.090±0.021mg/L,P<0.05)。结论脑脊液铜可作为肝豆状核变性辅助诊断的一种方法,可为脑型患者神经症状的评估提供一个客观指标。     

肝豆状核变性58例临床特点与CT、MRI分析

目的分析肝豆状核变性的临床特点和CT、MRI表现特征及二者间的关系,以提高临床医生对该病的警惕性,避免误诊.方法回顾分析58例肝豆状核变性的临床表现,相关血生化指标,脑CT和MRI检查情况及误诊情况.结果58例中内脏型29例,脑型18例,混合型11例.K-F环阳性率87.9%.血清铜均提示铜代谢障碍.脑CT阳性率56.2%,脑MRI阳性率82.1%.早期误诊率93.1%,误诊病种多样,误诊时间半月～32年不等,早期确诊预后较好.结论肝豆状核变性临床表现复杂,尤其对儿童不明原因的肝损害、锥体外系病征者应及时作K-F环、CP及脑CT和MRI等检查,早诊早治,改善预后.     

肝豆状核变性并发突发性耳聋2例分析

目的:探讨肝豆状核变性和突发性耳聋的相关性。方法:对2例住院治疗的肝豆状核变性合并突发性耳聋患者临床资料进行分析。结果:2例肝豆状核变性患者临床铜代谢异常、电测听提示为神经性耳聋,头颅MRI检查排除桥小脑角病变,临床确诊为肝豆状核变性和突发性耳聋。2例患者均在驱铜治疗的同时予以改善内耳循环、营养神经和激素治疗。1例患者获得临床痊愈,1例患者听力改善。结论:肝豆状核变性患者合并突发性耳聋临床尚未见报道,两者相关性尚不明确;突发性耳聋的治疗时机尤为重要,早期诊断和早期治疗可以获得临床痊愈。     

Denervation study of synapses of organ of corti of old world monkeys

Fine structural characteristics of synapses in the spiral organ of Corti were examined, with reference to differences between inner and outer haircell systems, and to location of neurons of origin of efferent axons. Surgical interruption of crossed olivocochlear bundle, of vestibular nerve, of facial nerve, and excision of superior cervical ganglia were used to determine the pathways of efferent axons. Interruption of the vestibular nerve near the brainstem results in degeneration of all efferent terminals on outer hair cells. Mid-line lesions at, and caudal to, the facial colliculus result in degeneration of about half of these efferent terminals. Efferent synaptic bulbs to the inner hair-cell system are small, of the order of one micron, and form type 2 junctions with afferent dendrites. They tend to have more large dense-core vesicles (about 80 nm) than the large efferent terminals of the outer hair-cell system, and appear to be the terminals of axons in the habenula perforata, which exhibit varicosities laden with large dense core vesicles. The varicosities are unaffected by excision of the superior cervical ganglia. So far as our material can reveal, it appears that the varicosities in the habenula perforata do not survive vestibular root interruption, nor do the efferent processes in the internal spiral bundle or at the base of inner hair cells. Most interestingly, the afferent processes of the inner hair-cell system, as identified for example by their relation to pre-synaptic bodies in the inner hair cells, are subject to a trans-synaptic reaction after severance of the vestibular root. They undergo a dramatic cytological transformation, characterized by increase of volume, engorgement with microtubules, microfilaments, microvesicles of various sizes, and clusters of lysosomes. Thus, both the efferent and afferent terminals of the inner hair-cell system show marked cytological differences from the corresponding terminals of the outer hair cell system.     

Mechanism of action of tubocurarine on nicotinic cholinoreceptors of neurons of the sympathetic ganglia of rats

Tubocurarine (Tc) effect on membrane currents elicited by acetylcholine (ACh) was studied in isolated superior cervical ganglion neurons of rat using patch-clamp method in the whole-cell recording mode. The "use-dependent" block of ACh current by Tc was revealed in the experiments with ACh applications, indicating that Tc blocked the channels opened by ACh. Mean lifetime of Tc-open channel complex, tau, was found to be 9.8 +/- 0.5 s (n = 7) at -50 mV and 20-24 degrees C. tau exponentially increased with membrane hyperpolarization (e-fold change in tau corresponded to the membrane potential shift by 61 mV). Inhibition of the ACh-induced current by Tc (3-30 microM/1) was completely abolished by membrane depolarization to the level of 80-100 mV. Inhibition of ACh-induced current was augmented at increased ACh doses. It is concluded that the open channel block produced by Tc is likely to be the only mechanism for Tc action on nicotinic acetylcholine receptors in superior cervical ganglion neurons of rat.     

The effect of age of onset of PD on risk of dementia

Background Dementia occurs in the majority of patients with Parkinson’s disease (PD). Late onset of PD has been reported to be associated with a higher risk for dementia. However, age at onset (AAO) and age at baseline assessment are often correlated. The aim of this study was to explore whether AAO of PD symptoms is a risk factor for dementia independent of the general effect of age. Methods Two community-based studies of PD in New York (n = 281) and Rogaland county, Norway (n = 227) and two population-based groups of healthy elderly from New York (n = 180) and Odense, Denmark (n = 2414) were followed prospectively for 3–4 years and assessed for dementia according to DSM-IIIR. All PD and control cases underwent neurological examination and were followed with neurological and neuropsychological assessments. We used Cox proportional hazards regression based on three different time scales to explore the effect of AAO of PD on risk of dementia, adjusting for age at baseline and other demographic and clinical variables. Findings In both PD groups and in the pooled analyses, there was a significant effect of age at baseline assessment on the time to develop dementia, but there was no effect of AAO independent of age itself. Consistent with these results, there was no increased relative effect of age on the time to develop dementia in PD cases compared with controls. Interpretation This study shows that it is the general effect of age, rather than AAO that is associated with incident dementia in subjects with PD. Received in revised form: 22 December 2005     

Limits of deinstitutionalization--perspectives of relatives of psychiatric patients

After a hopeful beginning, the social process of the reintegration of those with severe mental illness has come to a standstill. I am led to wonder whether "the community" really wants to live together with people suffering from severe mental illness, and if so, how closely? As long as the medical treatment of mental illness provided by the general practitioners is fundamentally deficient, as they are not able to prescribe the necessary interventions--such as out-patient psychiatric nursing, and service providers in the out-patient sector are content with offering increasingly intensive forms of care for the less seriously ill at the cost of the Social Welfare System--the reintegration of those with serious mental illness remains an illusion--which is mainly to the benefit of providers of residential care in homes and hostels.