RESUMO
A markedly elevated BB isoenzyme fraction of serum creatine kinase was noted in four male siblings and correlated with typical radiographic findings of autosomal dominant osteopetrosis Type II (ADO Type II). Patients with other sclerosing bone diseases had no elevation of CK-BB. The precision of the electrophoretic mobility patterns and correlation by I-125 tagged radioimmunoassay method confirms that this is CK-BB. We postulate that the dysfunctional and/or immature osteoclasts in ADO are more dependent on CK-BB than on the usual tricarboxylic acid cycle for the production of energy. The correlation of marked elevation of serum CK-BB with radiographic evidence of ADO Type II may prove to be of value as a biologic marker in the early diagnosis of the illness and lead to better understanding of the metabolism of bone.
Assuntos
Creatina Quinase/sangue , Osteopetrose/enzimologia , Osteopetrose/genética , Idoso , Feminino , Humanos , Isoenzimas , Masculino , Osteopetrose/diagnóstico por imagem , Linhagem , Radiografia , RadioimunoensaioAssuntos
Artroscopia/efeitos adversos , Músculos/lesões , Articulação do Ombro , Traumatismos dos Tendões , Adulto , Humanos , Masculino , Ruptura , Lesões do OmbroAssuntos
Creatina Quinase/sangue , Osteopetrose/enzimologia , Adulto , Idoso , Humanos , Isoenzimas , MasculinoRESUMO
Among 60 femur fractures not amenable to fixation by simple intramedullary nailing, 30 were treated with balanced skeletal traction followed by cast bracing or spica casting, and 30 were treated with closed interlocking nailing. The criteria for using an interlocking nail were fractures with less than 50% cortical contact or fractures with rotationally insecure purchase of the nail in either the proximal or distal fragment. In terms of fracture severity, patient age, injury severity, and clinical follow-up, the patient groups were similar. There were three open fractures in each group. The average hospital stay was 61 days for the traction group, and 19 days for the interlocking nail group (p less than 0.001). Time to clinical and radiographic union averaged 34 weeks with traction and casting and 18 weeks with interlocking nail fixation (p less than 0.001). Failure by the criteria of Johnson et al (2) occurred in 67% of the traction group and in 3% of the interlocking nail group (p less than 0.001). Minor complications were more common in the traction group. On the basis of this study and the experience of others, interlocking nail fixation appears to be the method of choice for managing unstable femoral shaft fractures.
Assuntos
Moldes Cirúrgicos , Fraturas do Fêmur/cirurgia , Fixação Intramedular de Fraturas/métodos , Fraturas Expostas/cirurgia , Tração/métodos , Adolescente , Adulto , Idoso , Feminino , Seguimentos , Fraturas não Consolidadas/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , CicatrizaçãoRESUMO
In a ten-year study of Machado-Joseph-Azorean disease (MJAD), three distinct syndromes emerged: ataxia syndrome (11 patients), ataxia-motor neuron-extrapyramidal syndrome (four), and ataxia-motor neuron-extrapyramidal syndrome (two). Three patients had such advanced disease that classification was not possible. These syndromes more accurately describe functional deficits than did previous classifications. Spread of neuronal degeneration from the cerebellar system to the motor neurons of the spinal cord and brain stem was found for the first time, to my knowledge, in five patients and to the motor neurons and the extrapyramidal system in two of 14 patients followed up. There is no dementia, and peripheral neuropathy is a late complication common to all syndromes. World presence of MJAD could have begun with Portuguese overseas expansion in 1415. Alternatively, the possibility of multiple spontaneous mutations must be considered. Genetic sameness depends on a specific genetic marker, which is not yet available. For accurate genetic counseling, a nonspecific biologic marker for this disease is sought, and electronystagmography changes may prove helpful. This is particularly important as this illness, like Huntington's disease, is usually not manifest until the child-bearing years or after.
Assuntos
Ataxia/fisiopatologia , Neurônios Motores , Doenças Neuromusculares/fisiopatologia , Adulto , Idoso , Ataxia/diagnóstico , Ataxia/etiologia , Ataxia/genética , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/genética , Ataxia Cerebelar/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/genética , Portugal , SíndromeRESUMO
Contrast enhancement computed tomography (CT) in a patient with central nervous system (CNS) sarcoidosis revealed increased densities particularly in the frontal and temporal areas. Treatment with prednisone improved the condition, and the CT abnormality disappeared. These previously undescribed findings can be of help in establishing the diagnosis and in following the patient's response to treatment.
Assuntos
Encefalopatias/diagnóstico por imagem , Prednisona/uso terapêutico , Sarcoidose/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Encefalopatias/tratamento farmacológico , Humanos , Masculino , Intensificação de Imagem Radiográfica , Sarcoidose/tratamento farmacológicoAssuntos
Doenças do Sistema Nervoso/genética , Adolescente , Adulto , Açores/etnologia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , New EnglandRESUMO
We studied a family of Portuguese ancestry from the Azores who suffered a progressive neurologic disease characterized by gait ataxia, features similar to Parkinson's disease in some patients, limitation of eye movements, widespread fasciculations of muscles, loss of reflexes in the lower limbs, followed by nystagmus, mild cerebellar tremor and extensor plantar responses. Two post-mortem examinations revealed loss of neurons and gliosis in the substantia nigra, nuclei pontis (and in the putamen in one case) as well as in the nuclei of the vestibular and other cranial nerves, columns of Clarke and anterior horns, in the spinal cord there were also loss of fibers in the fasciculi gracilis and mild changes in the pyramidal tracts. Comparison of the disease in this family with the findings reported in three families of similar ancestry, previously thought to have different disorders, suggests that they may all represent a single genetic entity with variable expression.