RESUMO
Limb-girdle muscular dystrophy 2J caused by mutations in C-terminal titin has so far been identified in Finnish patients only. This may in part be due to limited availability of diagnostic tests for titin defects. In this report, a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described. One deceased patient in the family proved to be homozygous for the C-terminal truncating titin mutation because of consanguinity. According to available medical records, the patient had a clearly more severe generalised muscle weakness and atrophy phenotype not recognised as a distal myopathy at the time. Autopsy findings in one of the original Finnish limb-girdle muscular dystrophy 2J patients were reported and the early phenotype in a newly identified young patient with homozygous Finnish C-terminal titin mutation (FINmaj) was detailed.
Assuntos
Proteínas Musculares/genética , Distrofia Muscular do Cíngulo dos Membros/genética , Distrofia Muscular do Cíngulo dos Membros/fisiopatologia , Mutação Puntual , Proteínas Quinases/genética , Idoso de 80 Anos ou mais , Criança , Conectina , Evolução Fatal , Feminino , Finlândia , França , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Musculares/química , Linhagem , Fenótipo , Proteínas Quinases/química , Estrutura Terciária de ProteínaRESUMO
We report a case of a 9-month pregnant woman who presented acute psychiatric and neurological symptoms with extensive involvement of the white matter on MRI and no oligoclonal bands on CSF examination. Despite high doses of intravenous steroids, plasmapheresis and immunosuppressive drugs, a fatal outcome (coma) was noted 8 months later. Neuropathological examination confirmed the diagnosis of Marburg's type of multiple sclerosis showing sharp-edged lesions of demyelination, giant astrocytes, numerous macrophages and little perivascular inflammation. We discuss the definition and limits of the Marburg entity with reference to acute disseminated encephalomyelitis, impact of pregnancy, unusual MRI features, neuropathology and treatment.
Assuntos
Encéfalo/patologia , Encefalomielite Aguda Disseminada/patologia , Esclerose Múltipla/patologia , Complicações na Gravidez/patologia , Doença Aguda , Adulto , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Terapia de Imunossupressão , Imageamento por Ressonância Magnética , Esclerose Múltipla/tratamento farmacológico , Plasmaferese , Gravidez , Complicações na Gravidez/tratamento farmacológico , Esteroides/uso terapêuticoRESUMO
In 1990, there were approximately 60 female general practitioners in the Maine-et-Loire region, 58 of which participated in the survey that year. By the year 2000, the number had risen to 137. A new study was conducted involving 70 women who had opened practices over that decade. Analyses of the responses to the questionnaire and a comparison with the results of the previous survey demonstrate distinct changes and a real evolution in the working conditions of this new generation of female general practitioners and in their relationships with their colleagues and families. More involved in their work and professional lives, they are now more accepted by other physicians and enjoy real family support. They are fulfilled and appear to succeed fully in all of their roles--those of physician, mother and wife. More active participation in social and political life would enable these professionals to achieve greater self-fulfillment and satisfaction; it is perhaps still too early to comprehend the true specificity, if any, of the private general practice of medicine by women. A new survey is planned to be conducted in ten years.