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 in...
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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.
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...
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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.
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 deter...
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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.
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