RESUMO
Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the impairment of at least one major ectodermal-derived structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24.8%), 11 of which were novel variants. The phenotype was evaluated through a detailed clinical examination of the major and minor ectodermal-derived structures. This study is the first to show that, after ED1, WNT10A is the second molecular candidate for EDI in a large Italian Caucasian population. The study confirmed that Phe228Ile is the most frequent WNT10A variant in Caucasian populations, and that WNT10A mutations are associated with large variability in EDI.
Assuntos
Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas Wnt/genética , Adolescente , Adulto , Alelos , Substituição de Aminoácidos , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética/métodos , Humanos , Masculino , Mutação , Fenótipo , Adulto JovemRESUMO
The authors describe the symptomatology following the haemorrhage of the caudate nucleus. They think the right caudate nucleus have a part in the regulation of the memory, the attention and the emotion.
Assuntos
Núcleo Caudado/irrigação sanguínea , Hemorragia Cerebral/diagnóstico , Transtornos Neurocognitivos/diagnóstico , Idoso , Atenção , Humanos , Masculino , Transtornos da Memória/diagnóstico , Memória de Curto Prazo , Agitação Psicomotora/diagnóstico , Síndrome , Tomografia Computadorizada por Raios XRESUMO
The Authors care about the Isaacs disease; they describe a clinical case and report the result trough carbamazepine and diphenylhydantoin. They think that the hypothesis of nerve suffering, of motor plate suffering does not explain the clinical syndrome. The Authors hypothesize a functional change in the trophic proteins and in the balance excitation-inhibition and neuromodulation. This would explain therefore both the motor syndrome and the vegetative syndrome.
