RESUMO
Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion.
Assuntos
Defeitos da Visão Cromática/genética , Conversão Gênica , Células Fotorreceptoras Retinianas Cones/fisiopatologia , Opsinas de Bastonetes/genética , Cromossomo X , Sequência de Bases , Mapeamento Cromossômico , Percepção de Cores/genética , Primers do DNA , Feminino , Ligação Genética , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Mutação Puntual , Reação em Cadeia da PolimeraseRESUMO
Two cases of closed ruptures of the flexor carpi radialis which resulted from attrition of the tendon caused by bony spurs secondary to Scapho Trapezo Trapezoidal (STT) osteoarthritis are described. Treatment is conservative.
Assuntos
Ossos do Carpo , Osteoartrite/complicações , Tendões , Ossos do Carpo/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/diagnóstico por imagem , Radiografia , Ruptura Espontânea , Tendões/cirurgiaRESUMO
Numerous methods for the treatment of displaced supracondylar humerus fractures of the extension type are described in the literature. From 1974 until 1988, we treated conservatively 33 children with such fractures with Dunlop traction. Twenty-nine patients (88%) were re-examined. Four patients (12%) were interviewed by telephone. Good or excellent results were obtained in 31 patients. The Dunlop method is a simple, well-tolerated and safe method that permits surveillance for possible complications. In comparison with other methods, it yields good and reproducible results.
Assuntos
Fraturas do Úmero/terapia , Tração/métodos , Adolescente , Criança , Pré-Escolar , Articulação do Cotovelo/diagnóstico por imagem , Feminino , Humanos , Fraturas do Úmero/diagnóstico por imagem , Masculino , Radiografia , Lesões no CotoveloRESUMO
Since Cogan described his first case in 1945, about 50 cases have been published in the world literature, A 23 year old patient who suffered from this disease led us to make a detailed study of previous publications. The cochleo-vestibular, the etiological and the ophtalmical aspects of the case were studied, and, also the differential diagnosis and the therapeutical possibilities.
