Revista de neurologia
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Revista de neurologia · May 2007
Case Reports[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy].
Complex glycerol kinase (GK) deficiency is a contiguous deletion of genes in Xp21 with loss of the locus for GK, for congenital adrenal hypoplasia (AHC) and/or for Duchenne's muscular dystrophy (DMD). We report the case of a 7-year-old patient with this rare disease. ⋯ Early identification of this disease makes it possible to foresee the acute metabolic decompensations and to establish suitable genetic counselling. CK and triglyceride counts should be performed in all male patients that present a suprarenal hypoplasia; if levels are high, then it is necessary to confirm the raised glycerol values and to carry out a confirmatory genetic study.
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Revista de neurologia · May 2007
Review Historical Article[Telemedicine and dementia: a need for the 21st century].
The ongoing process of information and communication technologies in health services implies a change in the conception, organization and management of these services. Telemedicine is a working method that allows health professionals to explore and/or treat a patient from an off-site location. In this review we provide a historical background on telemedicine, the evolution of its bibliometric impact, and its application for people with dementia. ⋯ Dementia could be an appropriate field in order to implement some telemedicine programs that may improve patient medical care, and reduce medical and management expenses for social and healthcare services.