RESUMEN
BACKGROUND: Molecular technologies are expanding our knowledge about genetic variability underlying early-onset non-progressive choreic syndromes. Focusing on NKX2-1-related chorea, the clinical phenotype and sleep related disorders have been only partially characterized. METHODS: We propose a retrospective and longitudinal observational study in 7 patients with non-progressive chorea due to NKX2-1 mutations. In all subjects sleep and awake EEG, brain MRI with study of pituitary gland, chest X-rays, endocrinological investigations were performed. Movement disorders, pattern of sleep and related disorders were investigated using structured clinical evaluation and several validated questionnaires. RESULTS: In patients carrying NKX2-1 mutations, chorea was mainly distributed in the upper limbs and tended to improve with age. All patients presented clinical or subclinical hypothyroidism and delayed motor milestones. Three subjects had symptoms consistent with Restless Legs Syndrome (RLS) that improved with Levodopa. CONCLUSIONS: Patients with NKX2-1 gene mutations should be investigated for RLS, which, similarly to chorea, can sometimes be ameliorated by Levodopa.
Asunto(s)
Corea/complicaciones , Corea/genética , Mutación/genética , Síndrome de las Piernas Inquietas/etiología , Factor Nuclear Tiroideo 1/genética , Adulto , Encéfalo/diagnóstico por imagen , Niño , Preescolar , Corea/diagnóstico por imagen , Estudios de Cohortes , Dopaminérgicos/uso terapéutico , Salud de la Familia , Femenino , Humanos , Levodopa/uso terapéutico , Imagen por Resonancia Magnética , Masculino , Hipófisis/diagnóstico por imagen , Síndrome de las Piernas Inquietas/diagnóstico por imagen , Síndrome de las Piernas Inquietas/tratamiento farmacológicoRESUMEN
During hibernation feeding is suspended and the digestive apparatus is in a condition of functional rest. This paper is a review of data published in the period from 1966 to 1999 on the structure/function relationship in the digestive apparatus of hibernating animals. The available information is partial, due to differences in methodology and species used; however, it is apparent from the data that the digestive apparatus undergoes an important rearrangement during hibernation, inclusive of mass loss and reduced/arrested mitotic activity, in the presence of a generally preserved morphology of the organs. All changes are reversible upon arousal. Recent findings show that, during hibernation, protein expression may be enhanced in the intestine as well as transport activities in the mucosa. Therefore, the hibernation condition is finely regulated, representing a potentially useful model for studies aimed at improving organ preservation procedures (e.g. for transplantation).