Assuntos
Epidermólise Bolhosa Distrófica , Qualidade de Vida , Índice de Gravidade de Doença , Inquéritos e Questionários , Adolescente , Adulto , Criança , Pré-Escolar , Epidermólise Bolhosa Distrófica/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Romênia , Adulto JovemRESUMO
BACKGROUND: Epidermolysis bullosa (EB) is a rare and so far incurable genetic disease, affecting mainly the skin and mucosal membranes, manifesting with blisters triggered by minor mechanical trauma. Since only few epidemiological data on EB are available, we established a Registry for EB and implemented molecular diagnostic methods. OBJECTIVE: We present epidemiologic data from the EB Registry and genotype-phenotype correlations. METHODS: In 2006, a registry of patients with EB was initiated in the Department of Dermatology of the University of Medicine, as well as molecular diagnostic tools. The patients were diagnosed on clinical bases, and whenever possible, immunofluorescence mapping and molecular analysis were performed. RESULTS: 89 EB patients were enrolled in the study from 2006 to 2012: 58 patients with dystrophic EB (DEB), 20 with EB simplex, one patient was diagnosed with Kindler syndrome; in 10 patients, the type of EB could not be determined. DISCUSSION AND CONCLUSION: We have estimated, the total number of EB patients in Romania and we have estimated the incidence and the prevalence of EB. We have also managed to approximate the distribution of EB types in Romania. Moreover, we performed a phenotypic and genotypic characterization in some of the patients included in the EB register.
Assuntos
Epidermólise Bolhosa Distrófica/epidemiologia , Epidermólise Bolhosa Simples/epidemiologia , Adolescente , Adulto , Vesícula/epidemiologia , Criança , Pré-Escolar , Colágeno Tipo VII/genética , Epidermólise Bolhosa/epidemiologia , Epidermólise Bolhosa Distrófica/genética , Epidermólise Bolhosa Simples/genética , Éxons , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Doenças Periodontais/epidemiologia , Fenótipo , Transtornos de Fotossensibilidade/epidemiologia , Prevalência , Sistema de Registros , Romênia/epidemiologia , Adulto JovemRESUMO
This study investigated whether somatic markers mediate the effect of serotonin transporter genotype on Iowa Gambling Task (IGT) performance. Participants (N = 135) were genotyped for the insertion/deletion and single-nucleotide (rs25531) polymorphisms in the promoter region of the serotonin transporter gene (5-HTTLPR). The results of mediation analyses indicated that skin conductance responses that anticipated IGT card selections partially (i.e. 42% of the total effect) mediated the effect of genotype on IGT performance. In comparison with high-functioning 5-HTTLPR genotypes, the low-functioning genotypes were associated with higher total IGT scores. This suggests that the higher synaptic availability of serotonin, associated with the low-functioning 5-HTTLPR genotypes, may confer differential susceptibility to decision making under risk, and that almost half of this effect is explained by facilitated somatic markers during IGT.
Assuntos
Tomada de Decisões/fisiologia , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adolescente , Adulto , Feminino , Jogo de Azar , Genótipo , Humanos , Masculino , Testes NeuropsicológicosRESUMO
Femtosecond electron and spin dynamics of the Gd(0001) surface are investigated by time-resolved photoemission and second harmonic generation. Upon optical excitation the spin polarization of the surface state is reduced by half while its exchange splitting remains nearly unchanged. Electron-magnon interaction is proposed to facilitate electron-spin-flip scattering among spin-mixed surface and bulk states, which provides a mechanism for ultrafast demagnetization.
