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世界核心医学期刊文摘（神经病学分册） 2005年第10期1卷 36-36页

作者： Prilipko O. dehdashti A.R. Zaim S. Seeck m. 方伯言 Presurgical Epilepsy Evaluation Unit Department of Neurology H.eve 24 opital Cantonal Universitaire de Gen' rue Micheli-du-Crest CH-1211 Gen'eve 14 Switzerland Dr.

The Chiari type I malformation (Cm1) is characterized by herniation of cerebe llar tonsils to at least 3- 5 mm below the plane of foramen magnum and can pres ent with a wide variety of clinical symptoms, frequently including occipital hea daches, secondary to bulbar and/or medullary distress. Rarely, syncopal episodes have also been described and attributed to either compression of the midbrain a scending reticular system, or vascular compromise (vertebrobasilar artery compre ssion, hypotension). We report the first case of a Cm1 patient with frequently r ecurring syncope due to postural orthostatic tachycardia syndrome (POTS), a form of orthostatic intolerance, whose symptoms resolved completely after surgical i ntervention. It is important to stress that it is not clear whether the describe d association of POTS and Cm1 in our patient is a fortuitous finding in an isola ted case or a reflection of a more systematic association between the two pathol ogies.

关键词： Chiari 体位性低血压小脑扁桃体疝心动过速枕骨大孔枕部疼痛基底动脉 POTS 调节中枢临床症状

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常染色体显性遗传性桥粒芯糖蛋白1基因突变引起的局限性掌跖角化病

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世界核心医学期刊文摘（皮肤病学分册） 2006年第4期2卷 45-45页

作者： milingou m. Wood P. masouyé I. L. Borradori 罗素菊徐波 Clinique de dermatologie Hopital Cantonal Universitaire Rue Micheli- du- Crest 24 CH- 1211 Gen` eve Switzerland

Background: Palmoplantar keratodermas (PPK) encompass a large genetically heterogeneous group of diseases associated with hyperkeratosis of the soles andor palms that occur either isolated or in association with other cutaneous and extracutaneous manifestations. Pathogenic mutations in the desmoglein 1 gene (DSG1) have recently been identified in a subset of patients with the striate type of PPK. Observation: We have identified a patient with a focal non- striated form of PPK associated with discrete troubles of keratinisation at sites exposed to mechanical trauma, such as the knees, ankles or finger knuckles, and with mild nail dystrophy. Genetic analyses disclosed a novel dominantly inherited heterozygous single base insertion in exon 3 of DSG1, 121insT, leading to a premature termination codon. The mutation was also present in the father and in a sister. Conclusion: Our observation extends the spectrum of clinical features associated with genetic defects in DSG1 and provides further evidence that perturbation of desmoglein 1 expression has a critical impact on the integrity of tissues experiencing strong mechanical stress.

关键词：桥粒芯糖蛋白基因突变掌跖角化病过度角化条纹状甲营养不良碱基插入外伤部位基因分析基因

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瑞士日内瓦的性传播疾病发病率增加

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世界核心医学期刊文摘（皮肤病学分册） 2006年第3期2卷 52-52页

作者： Abraham S. Toutous-Trellu L. Pechère m. V. Piguet 党倩丽 department of dermatology and Venereology University Hospital of Geneva 24 rue Micheli-du-Crest CH-1211 Geneva 14 Switzerland Dr

Background: Focal outbreaks of sexually transmitted infections (STIs) such as syphilis and gonorrhoea have been reported in the large cities of Western Europe over the past few years. The aim of our study was to determine whether a similar trend is observed in Geneva and the situation with regard to HIV infection. methods: We review the incidence of syphilis, gonorrhoea, Chlamydia trachomatis and HIV in Geneva from 1999 to 2004. Results: Figures indicate a steady and sustained increase in the incidence of syphilis, gonorrhoea and Chlamydia trachomatis in Geneva since 1999 that is maintained into 2004. As for HIV, the number of positive testings in Switzerland has stabilised and primary infection figures do not indicate an increase in newly acquired infections in Geneva. Conclusion: The situation in Geneva is similar to that observed elsewhere inWestern Europe and indicates the need of public health interventions.

关键词：疾病发病率传播疾病日内瓦瑞士 HIV感染沙眼衣原体感染发病率局部爆发发病趋势初次感染

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