RESUMO
Uma analise de eficiencia de varios testes de coagulacao (TR, TIP, K-TTP TCC e FVIIIC pelo metodo de um estagio) foi feita utilizando-se diferentes tipos de controles masculinos, mesmo tipo de reagentes e aparelhagem para melhor detectar portadoras de gene de hemophilia A. Alem disso, uma analise estatistica dos resultados obtidos em diferentes laboratorios foi feita usando os mesmos testes, reativos e aparelhagem para verifivar qual o teste que mostrou melhor repetibilidade e homogeneidade dos resultados obtidos entre laboratorios.De acordo com estes criterios foi escolhido o FVIIIC 1/10 como o que melhor discriminou heterozigotas definitivas de controles masculinos (liofilizado e irmao)
Assuntos
Humanos , Feminino , Testes de Coagulação Sanguínea , Hemofilia A , HeterozigotoRESUMO
Cytogenetic and dermatoglyphic studies were performed in 10 patients affected by Steinert's myotonic dystrophy. No anomalies were found in karyotype and dermatoglyphs in these patients, except for an occasional chromosomal translocation.
Assuntos
Aberrações Cromossômicas , Dermatoglifia , Distrofia Miotônica/genética , Adolescente , Adulto , Aneuploidia , Feminino , Humanos , Cariotipagem , Masculino , Pessoa de Meia-IdadeRESUMO
The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alteration is coincidental.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos 1-3 , Cromossomos Humanos 13-15 , Distrofia Miotônica/genética , Siringomielia/genética , Translocação Genética , Feminino , Humanos , MasculinoRESUMO
A fifteen-year study was made in the neurologic clinic of the school of medicine, of the City of Sao Paulo; 466 patients were examined clinically and with EMG determination of enzymes, biopsies and genetic counsel. The diagnosis varied much and some important findings at heart level, with overload, were discovered in some cases. In the cases in which the diagnosis was not confirmed; CPK was determined, which was increased in all cases, but was not so with GOT, GPT and LDH. A family pattern was found in the Duchenne Becker distrophy, limb-girdle syndrome, fascioscapulohumeral and oculopharyngeal. The biopsy exposed 15 of the 18 polymyositis cases. Genetic counsel was given to heterozygotes with PMD genes of great risk of presentation. An acute stage, detected by CPK dosage, was foreseen for adolescent heterozygotes.
Assuntos
Doenças Musculares/epidemiologia , Adulto , Alanina Transaminase/análise , Aspartato Aminotransferases/análise , Brasil , Creatina Quinase/análise , Eletromiografia , Feminino , Aconselhamento Genético , Humanos , L-Lactato Desidrogenase/análise , Masculino , Doenças Musculares/diagnóstico , Doenças Musculares/enzimologia , Doenças Musculares/genéticaRESUMO
A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported. A total of 466 cases were examined and distributed as follows: 56% of progressive muscular dystrophy; 31% of myasthenia gravis; 6% of polymyositis; 4% of myotonic dystrophy; and the remainder of several different diseases (central core disease, Kearn-syndrome, myotonia congenita, adynamia episodica hereditaria, diabetic myopathy and Eaton-Lambert syndrome). Enzymatic dosages, electromyography, muscle biopsy, electrocardiography and genetic counselling are also reported.
