Reflection on the geographic distribution of multiple sclerosis in France

The geographic distribution of multiple sclerosis within the 95 Départements and the 21 Régions of France was defined from a 1986 nationwide prevalence series derived from questionnaires. This indicated a significant clustering of high frequency regions in the northeastern part of the country with most significantly low areas in the south and west. Distributions were similar to those for MS death rates by Département and Région for 1968–1977, indicating geographic stability over time; but there was also evidence of diffusion over time. The 1986 prevalence distribution was also compared with all published prevalence rates for communities of France. From all these resources we conclude that all of France falls within the "high frequency zone" for MS, that the nationwide prevalence rate is at least 50 per 100000 population, and that there is evidence of geographic clustering of the disease with temporal spread of the cluster.     

Transitional progressive multiple sclerosis: MRI and MTI findings

Transitional progressive multiple sclerosis (MS) is quite an unusual form of presentation and course of the disease. A case with this progressive form is presented and brain MRI and MTI findings are discussed in relation to the possible insight they may provide for understanding the mechanisms that determine progressive disability in MS.     

Pathogenesis of neuroimmunologic diseases

Animal models of autoimmune diseases have greatly improved our current understanding of the pathogenesis of human autoimmunity and have provided the potential for therapies based on manipulation of the immune system. In our laboratory, we have investigated the immunopathogenesis of autoimmune diseases of the nervous system and muscle. We have developed immune-based approaches for the suppression of experimental autoimmune encephalomyelitis (EAE), a model for multiple sclerosis (MS), and experimental autoimmune neuritis (EAN), a model for the Guillain-Barré syndrome (GBS). These approaches included induction of peripheral tolerance, immunotoxin targeting of activated T cells, and cytokine manipulations. In addition, we identified the antigen and characterized immunopathologically an autoimmune inflammatory disease of skeletal muscle, experimental autoimmune myositis (EAM), a model for the human inflammatory muscle disease polymyositis.     

Temporal lobe epilepsy with varying severity: MRI study of 222 patients

MRI was performed in 222 consecutive adult patients with temporal lobe epilepsy of varying severity from January 1991 to May 1993. The diagnosis of hippocampal sclerosis was established visually by three independent observers. The accuracy of visual assessment of hippocampal asymmetry was compared with volumetric measurements. Neuropathological correlations were obtained in 63 patients with refractory seizures. Temporal lobe abnormalities were observed in 180 patients (81 %) as follows: hippocampal sclerosis in 122 (55 %); developmental abnormalities in 16 (7.2 %); tumours in 15 (6.8 %); scars in 11 (5 %); cavernous angiomas in 10 (4.5 %); miscellaneous lesions in 6. MRI was normal or showed unrelated changes in 42 patients (19 %). Visual assessment correctly lateralised hippocampal sclerosis in 79 of the 84 patients measured (94 %). Temporal lobectomy confirmed the MRI data (side and aetiology) in all 63 operated patients. Patients with normal MRI had an older age of seizure onset and were more often drug-responsive than patients with hippocampal sclerosis. MRI showed temporal lobe abnormalities in 81 % of epileptic patients with varying severity with good neuropathological correlation. Patients with normal MRI had a less severe form of the disease. Received: 19 August 1996 Accepted: 13 November 1996     

Uhthoff's symptom in multiple sclerosis

A case report is presented in which a patient's initial complaint is of blurred vision after exercise (Uhthoffs symptom). Visual acuity and colour vision were found to be reduced after exercise. Additional neurological signs included homonymous scotomata and delayed visual evoked and somatosensory responses. Magnetic resonance imaging demonstrated multiple abnormal lesions in the brain. The significance of this symptom and its relationship to multiple sclerosis are discussed.     

Immunoglobulin Gene Rearrangement in Plasma Cell Dyscrasias: Detection of Small Clonal Cell Populations in Peripheral Blood and Bone Marrow

The bone marrow (BM) and peripheral blood (PB) samples of 71 patients with plasma cell dyscrasias were analysed by the Southern blot technique for the presence of clonal immunoglobulin (Ig) gene rearrangements. 53% of BM samples examined were archival material such as air dried BM slides or frozen trephine biopsies. The results were related to bone marrow plasmacytosis as determined by cytology and flow cytometry, and other clinical parameters. Clonal Ig gene rearrangements were found in BM samples of 45 (83%) of 54 MM patients and in 3 of 6 patients with monoclonal gammopathy of unknown significance (MGUS). Clonal cell populations in the PB were detected in 11 (30%) of 37 examined MM patients, but in none of the patients with MGUS or solitary plasmacytoma of bone. PB involvement was associated with progressive disease. Circulating monoclonal cells were significantly associated with higher M-protein levels (p 0.05). Thus, circulating clonal precursor cells are encountered more frequently in active MM.     

Multiple sclerosis and headache co-morbidity. A case-control study

The prevalence of primary headache (PH) in a multiple sclerosis (MS) sample vs. control healthy subjects was investigated at a neurological clinic in 2004–2005: 122 of 238 (51%) MS patients and 57 of 238 (23%) controls proved to be affected by headache. The groups did not differ for the rates of PH types. Headache types of MS patients were comparable to those of PH patients that were observed at the same institute in a case-control comparison. First symptoms of headache preceded those of MS in two thirds of cases. Headache features did not significantly change after MS onset. Comorbidity of MS and PH could be explained by some common clinical and biological traits.     

一个RET原癌基因Met918Thr突变的多发性内分泌腺瘤病Ⅱb家系报道

目的 检测一个多发性内分泌腺瘤病(MEN)Ⅱb家系的RET原癌基因突变。方法 提取患者及其父母的外周血基因组DNA，对RET原癌基因第16外显子进行聚合酶链反应(PCR)，将PCR扩增产物进行直接基因测序和限制性内切酶分析。结果 检测到患者RET原癌基因第16外显子918密码子存在ATG(Met)／ACG(Thr)点突变，而在患者父母中未检测到该突变。结论 通过对MENⅡb患者及其父母的基因筛查发现，该患者点突变是杂合子错义突变。该疾病的诊断达到了基因水平。     

气相色谱法测定血液中毒鼠强的含量

目的:对血液中的毒鼠强进行提取和检测.方法:采用酸水解及GC/FPD、GC/MS分析的方法,研究酸水解过程中的水解温度、水解强度等方面的影响,并对毒鼠强的GC/MS图谱进行解析,建立了一个定性准确、提取效率高、干扰少的毒鼠强提取分析方法.结果:毒鼠强工作曲线在0.01～0.2μm/μl之间呈线性关系,相关系数r=0.9999.与传统的液-液提取方法相比,血液样品毒鼠强的检出率提高1.69倍.结论:本方法可应用于生物样品中毒鼠强的提取和检测.     

大肠重复癌MMR、p53、Bax、PCNA表达及微卫星不稳定性研究

目的探讨微卫星不稳定性 (MSI)在大肠重复癌与单发癌中的变化规律 ,及MMR、p5 3、Bax、PCNA表达与MSI的关系。 方法采用免疫组化、PCR SSLP法对 38例大肠重复癌患者的 5 1处癌灶及 35例单发大肠癌分别进行MMR、p5 3、Bax、PCNA表达的检测和 5个微卫星位点MSI检测。结果重复癌组复制错误阳性率为 5 3% (2 7/ 5 1) ,单发癌组为 17% (6 / 35 ) ,差异有显著性意义 (χ2 =11 2 5 ,P <0 0 1)。重复癌组中 ,RER 与MMR表达缺失有密切的相关性 ;RER 与 p5 3表达呈负相关 ;RER 组PCNA标记指数显著低于RER-组 ;RER 与低分化、近端大肠癌密切相关。结论MSI在大肠重复癌的发生上起着重要作用 ,MSI可作为预测大肠重复癌发生的重要标志。