RESUMO
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozygosis or two different mutations in heterozygosis in the MEFV gene; 20/42 had a single heterozygous mutation, and 12/42 did not have genetic alterations in MEFV. The analysis of the GLA gene conducted on all the samples revealed that three subjects, and some members of their families, had two different exonic mutations associated with FD. Family studies allowed us to identify eight other cases of FD, bringing the total undiagnosed subjects to 11/53. Analyzing the MEFV and GLA genes in patients with clinical diagnoses of FMF proved to be fundamentally important for the reduction of diagnostic errors.
Assuntos
Proteínas do Citoesqueleto/genética , Erros de Diagnóstico , Doença de Fabry/genética , Febre Familiar do Mediterrâneo/genética , Mutação , alfa-Galactosidase/genética , Adolescente , Adulto , Sequência de Bases , Criança , Pré-Escolar , Análise Mutacional de DNA , Diagnóstico Diferencial , Doença de Fabry/diagnóstico , Febre Familiar do Mediterrâneo/diagnóstico , Saúde da Família , Feminino , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Pirina , Adulto JovemRESUMO
A highly efficient optical circulator for bidirectional transmission on a single fiber has been developed. A 50% transmitting efficiency and a 70% receiving efficiency have been evaluated for the nonoptimized laboratory prototype. Its behavior and technology are discussed, together with possible improvements using recently announced optical materials.
RESUMO
A thin-film technique has been developed for vacuum fabrication of mirrors with Gaussian reflectivity profiles. Samples with diameters from 2 to 8 mm and assigned maximum reflectivities for visible or near-IR wavelengths have been made and their optical properties evaluated. By properly choosing both the geometry of the evaporation source and the masking system, one can obtain quasi-Gaussian or super-Gaussian reflectivity profiles.