An evaluation of Tourette Syndrome and medication use in Canada

Self-report data were gathered from a national sample of over 200 Canadian Tourette Syndrome (TS) patients. Information regarding symptom severity both on and off medication was gathered along with an analysis of different medications in use, and patient ratings of effectiveness of those medications. Patients also rated their own mental health. Results indicated that approximately 60% of TS patients take some form of medication for relief from their symptoms. Of these, over 80% reported that symptoms are less severe when medicated. The most commonly prescribed medications in order of popularity are haloperidol, pimozide, clonidine and benztropine mesylate (Cogentin). Patient ratings of effectiveness of these medications places haloperidol first, pimozide second and clonidine third although all were found to be "somewhat" to "very" effective. Of those TS patients on medications, 50% rated their own mental health as good to excellent and 50% rated it as fair to poor.     

Intestinal microvillous atrophy in a patient with Down syndrome and aganglionic megacolon

Intestinal microvillous disorders are an uncommon cause of severe diarrhea, with very poor prognosis. The authors report the case of a female infant with Down syndrome, aganglionic megacolon, severe diarrhea, and jejunal biopsy with ultrastructural changes consistent with microvillous atrophy. The patient condition improved after a colostomy performed in the setting of the treatment of Hirschprung disease.     

Antibodies to squalene in recipients of anthrax vaccine

We previously reported that antibodies to squalene, an experimental vaccine adjuvant, are present in persons with symptoms consistent with Gulf War Syndrome (GWS) (P. B. Asa et al., Exp. Mol. Pathol 68, 196-197, 2000). The United States Department of Defense initiated the Anthrax Vaccine Immunization Program (AVIP) in 1997 to immunize 2.4 million military personnel. Because adverse reactions in vaccinated personnel were similar to symptoms of GWS, we tested AVIP participants for anti-squalene antibodies (ASA). In a pilot study, 6 of 6 vaccine recipients with GWS-like symptoms were positive for ASA. In a larger blinded study, only 32% (8/25) of AVIP personnel compared to 15.7% (3/19) of controls were positive (P > 0.05). Further analysis revealed that ASA were associated with specific lots of vaccine. The incidence of ASA in personnel in the blinded study receiving these lots was 47% (8/17) compared to an incidence of 0% (0/8; P < 0.025) of the AVIP participants receiving other lots of vaccine. Analysis of additional personnel revealed that in all but one case (19/20; 95%), ASA were restricted to personnel immunized with lots of vaccine known to contain squalene. Except for one symptomatic individual, positive clinical findings in 17 ASA-negative personnel were restricted to 4 individuals receiving vaccine from lots containing squalene. ASA were not present prior to vaccination in preimmunization sera available from 4 AVIP personnel. Three of these individuals became ASA positive after vaccination. These results suggest that the production of ASA in GWS patients is linked to the presence of squalene in certain lots of anthrax vaccine.     

A Novel Mutation in the GATA1 Gene Associated with Acute Megakaryoblastic Leukemia in a Korean Down Syndrome Patient

Although acquired mutations in the GATA1 gene have been reported for Down syndrome-related acute megakaryoblastic leukemia (DS-AMKL) in Caucasians, this is the first report of a Korean Down syndrome patient with AMKL carrying a novel mutation of the GATA1 gene. A 3-yr-old Korean girl with Down syndrome was admitted to our hospital complaining of pallor and fever. The findings of a peripheral blood smear and bone marrow study were compatible with the presence of AMKL. A chromosome study showed 48,XX,-7,+21c,+21,+r[3]/47,XX,+21c[17]. Following GATA1 gene mutation analysis, a novel mutation, c.145dupG (p.Ala49GlyfsX18), was identified in the N-terminal activation domain of the GATA1 gene. This mutation caused a premature termination at codon 67 and expression of an abnormal GATA-1 protein with a defective N-terminal activation domain, and the absence of full-length GATA-1 protein. This case demonstrates that a leukemogenic mechanism for DS-AMKL is contributed by a unique collaboration between overexpressed genes from trisomy 21 and an acquired GATA1 mutation previously seen in Caucasians and now in a Korean patient.     

肾阳虚证患者红细胞LPO、SOD和ATP酶活性的变化

目的 :探讨肾阳虚证患者红细胞LPO、SOD和ATP酶活性的特点及其意义。方法 :观察 19例肾阳虚证患者和 2 1例正常人红细胞LPO、SOD和红细胞膜Na+ K+ ATP酶、Mg2 + ATP酶、Ca2 + ATP酶、Ca2 + Mg2 + ATP酶活性的变化。结果 :与对照组比较 ,肾阳虚证患者红细胞LPO含量升高 (P <0 .0 1) ,红细胞SOD活性降低 (P <0 .0 1) ;红细胞膜Na+ K+ ATP酶活性显著升高 (P <0 .0 1) ,而Mg2 + ATP酶活性变化无显著性差异 ,Ca2 + ATP酶活性升高 (P <0 .0 1) ,Ca2 + Mg2 + ATP酶活性也显著升高 (P <0 .0 1)。结论 :肾阳虚证患者红细胞内脂质过氧化反应增强 ,而抗氧化能力降低 ,红细胞膜Na+ K+ ATP酶、Ca2 + ATP酶和Ca2 + Mg2 + ATP酶活性升高 ;本研究为理解肾阳虚证的病理生理基础提供了初步实验依据     

慢性胃炎脾气虚证与脾胃湿热证的差异表达基因比较

目的：比较慢性胃炎脾气虚证与脾胃湿热证患者差异表达基因。方法:分别提取慢性胃炎脾气虚和脾胃湿热患者胃黏膜组织RNA各4例，逆转录荧光探针标记后杂交制作BiostarH-140 s基因芯片。采用荧光值ratio、生物信息学、t检验等方法分析结果，实时荧光定量PCR检测部分相关基因。结果:获得差异表达基因245条，主要为营养物质消化吸收运输、物质能量合成代谢、细胞周期增殖分化、免疫反应等相关基因；有显著意义的差异表达基因77条；实时定量PCR检测10条基因，6条与芯片结果一致。结论:慢性胃炎脾气虚和脾胃湿热2个证型基因表达存在明显差异，提示中医的临床辨证分型与基因差异表达有一定关系。     

CORRELATION OF SKIN POTENTIAL AND SKIN RESISTANCE MEASURES

Simultaneous measurements of skin potential (SP) and skin resistance (SR) obtained from 20 male and 20 female adult subjects during 2 sessions held 2 to 9 days apart were used in studying (1) the correlation of change measurements and prestimulus level in the two measures, and (2) the amount of correlation between SP and SR using both simple difference and residual change scores in which the regression of poststimulus values on initial level (prestimulus) has been controlled. Correlations within Ss and correlations among Ss showed large individual variability, correlation differences between males and females, and high correlation between SP and SR change scores. Although the law of initial value (LIV) seemed to have little applicability to the measurement of electrodermal responses, the results underscored the need to control for contamination of change measures by initial level regardless of direction.     

Die Klinik des hämolytisch-urämischen Syndroms

Zusammenfassung Neben dem sporadisch auftretenden HUS, das vorwiegend das Kleinkindesalter betrifft, ist die rezidivierende und die familiäre Form zu differenzieren. Außerdem kann bei Erwachsenen eine besondere Verlaufsform differenziert werden, bei Frauen nach Schwangerschaften oder unter Antikonzeptiva. Es erscheint sinnvoll diese Gruppierung vorzunehmen, da therapeutische Maßnahmen und Prognose stark variieren. Die unterschiedlichen Formen lassen kein übergeordnetes pathogenetisches Prinzip erkennen. Daher bleiben auch gezielte kausaltherapeutische Versuche unsicher. Gesichert kann gelten, daß Dialyse und die intensive Hypertonie-Behandlung die Prognose insbesonders bei den Kleinkindern entscheidend verbessert hat.     

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males. However, different mutations in the same gene were reported to cause mental retardation, both in sporadic non-syndromic males as well as in syndromic families with disease manifestation in carrier females. The majority of the reported MECP2 mutations in mentally retarded patients cause amino acid substitutions and, especially in isolated cases, discrimination between a disease-causing mutation and a rare polymorphism is not obvious and the significance of each individual variation should be verified. We mapped a new non-syndromic X-linked family (MRX79) to the chromosomal region Xq27.3-Xq28 and identified an A140V mutation in the MEPC2 gene in all patients with the disease haplotype. In addition to data published by others, this suggests that A140V is a recurrent mutation (and not a polymorphism) found in patients with X-linked mental retardation.     

A case of Lambert-Eaton myasthenic syndrome associated with atypical bronchopulmonary carcinoid tumor

The Lambert-Eaton myasthenic syndrome (LEMS) is typically recognized as a paraneoplastic syndrome associated with a small cell lung carcinoma (SCLC), whereas LEMS with other neuroendocrine lung tumors, including carcinoids or large cell lung carcinoma, are highly unusual. Here, we report a rare case of LEMS with atypical bronchopulmonary carcinoid tumor: a 65-yr-old man presented with progressive leg weakness and a diagnosis of LEMS was made by serial repetitive nerve stimulation test. Chest CT revealed a lung nodule with enlargement of paratracheal lymph nodes, and surgically resected lesion showed pathological features of atypical carcinoid tumor. We concluded that LEMS could be associated with rare pulmonary neuroendocrine tumor other than SCLC, which necessitates pathologic confirmation followed by aggressive treatment for optimal management in these rare cases.