RESUMO
Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and elevated serum creatine kinase (CK) and lactate levels, but without myoglobinuria, ataxia, or seizures. Muscle biopsy showed lipid storage myopathy, combined deficiency of respiratory chain complexes I and III, and CoQ10 levels below 50% of normal. Oral high-dose CoQ10 supplementation improved muscle strength dramatically and normalized serum CK.
Assuntos
Erros Inatos do Metabolismo/complicações , Músculo Esquelético/enzimologia , Doenças Musculares/etiologia , Ubiquinona/análogos & derivados , Adulto , Coenzimas , Creatina Quinase/sangue , Parto Obstétrico , Progressão da Doença , Complexo I de Transporte de Elétrons/deficiência , Complexo III da Cadeia de Transporte de Elétrons/deficiência , Feminino , Humanos , Ácido Láctico/sangue , Metabolismo dos Lipídeos , Masculino , Debilidade Muscular/etiologia , Músculo Esquelético/metabolismo , Doenças Musculares/tratamento farmacológico , Doenças Musculares/patologia , Doenças Musculares/fisiopatologia , Gravidez , Complicações na Gravidez/etiologia , Complicações na Gravidez/fisiopatologia , Ubiquinona/deficiência , Ubiquinona/uso terapêuticoRESUMO
Factor analyses of health complaints in groups with different length of shiftwork exposure show that the structure of these complaints changes with increasing shift experience, indicating the emergence of a shift-specific pattern of health complaints. After about 15 years of shiftwork, complaints related to disturbances of circadian-controlled functions can be found in the first factor whereas other complaints have their dominant loadings on a separate factor, representing general, non-shift-specific impairments. The results indicate that in this way shift-specific components of health impairment can be separated from other non-shift related components.
Assuntos
Ritmo Circadiano/fisiologia , Saúde Ocupacional/estatística & dados numéricos , Polícia , Tolerância ao Trabalho Programado/fisiologia , Adulto , Análise Fatorial , Feminino , Alemanha Ocidental , Comportamentos Relacionados com a Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Sono , Fatores de Tempo , Tolerância ao Trabalho Programado/psicologiaRESUMO
3 1/2 years after two operations and radiation therapy of a biparietally, parasagittaly localised grade III oligoastrocytoma, a 34-year-old patient developed symptoms of the spinal cord. By performing magnetic resonance tomography and laminectomy, multiple metastases of the anaplastic part of the primary tumour could be identified. Spinal seedings of a tumour of this grading are even rarer than those sporadically reported on corresponding complications of a multiform glioblastoma. Risk factors for the development of such a complication are youth of the patient, primary site of the tumour near the midline and anaplastic parts of the tumour in adults. If such a constellation exists, one should definitely consider the possibility of a spinal seeding in a grade III glioma, especially because in these younger patients thus would be of greater relevance for therapy than in patients with multiform glioblastoma.