Assuntos
Neoplasias de Tecido Muscular , Neoplasias Hipofisárias , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Muscular/diagnóstico , Neoplasias de Tecido Muscular/epidemiologia , Neuro-Hipófise , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/epidemiologiaRESUMO
This is the first description of a dystrophin-deficient muscular dystrophy in domestic cats. The disorder appears to be of X-linked inheritance because it affected both males of a litter of four kittens. Immunoblotting and immunofluorescent detection of dystrophin showed dystrophin present in control cat muscle but no detectable dystrophin in either affected cat. The feline muscular dystrophy was progressive and histopathologically resembled human Duchenne/Becker muscular dystrophy except for the lack of fat infiltration and the presence of prominent hypertrophy of both muscle fibers and muscles groups in the feline disorder.
Assuntos
Doenças do Gato/genética , Distrofia Muscular Animal/genética , Animais , Gatos , Distrofina , Imunofluorescência , Histocitoquímica , Immunoblotting , Masculino , Proteínas Musculares/genética , Músculos/análise , Músculos/patologia , Distrofia Muscular Animal/patologia , Cromossomo XAssuntos
Infarto Cerebral/complicações , Síndrome de Horner/etiologia , Doenças Hipotalâmicas/complicações , Idoso , Infarto Cerebral/diagnóstico por imagem , Infarto Cerebral/patologia , Síndrome de Horner/diagnóstico por imagem , Síndrome de Horner/patologia , Humanos , Doenças Hipotalâmicas/diagnóstico por imagem , Doenças Hipotalâmicas/patologia , Hipotálamo/irrigação sanguínea , Masculino , RadiografiaAssuntos
Doenças do Sistema Nervoso/genética , Adolescente , Adulto , Açores/etnologia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , New EnglandRESUMO
A 40 year old man developed seizures, intermittent fever, and progressive dementia ending in coma and death after four years. The cerebrospinal fluid showed variable pleocytosis and occasional elevation of protein. The necropsy revealed many lesions characteristic of Whipple's disease confined to the grey matter of the brain. The pathological changes were studied with the light and electron microscope. The findings permitted an understanding of the temporal sequence of changes in the lesions. Involvement of the brain in this condition is rare, but the disease is treatable and the diagnosis can be made by brain biopsy.
Assuntos
Encefalopatias/patologia , Doença de Whipple/patologia , Adulto , Encefalopatias/complicações , Córtex Cerebral/patologia , Proteínas do Líquido Cefalorraquidiano/análise , Demência/etiologia , Lobo Frontal/patologia , Humanos , Macrófagos , Masculino , Lobo Parietal/patologia , Reação do Ácido Periódico de Schiff , Convulsões/etiologia , Infecções Estreptocócicas/complicações , Doença de Whipple/complicações , Doença de Whipple/etiologiaRESUMO
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.
Assuntos
Ataxia/genética , Encéfalo/patologia , Medula Espinal/patologia , Adolescente , Adulto , Ataxia/patologia , Açores , População Negra , Diplopia/genética , Emigração e Imigração , Movimentos Oculares , Feminino , Seguimentos , Marcha , Humanos , Masculino , Massachusetts , Pessoa de Meia-Idade , Nistagmo Patológico/genética , Linhagem , Núcleos Vestibulares/patologia , População BrancaRESUMO
Electron-microscopic, morphometric, histochemical and biochemical studies were carried out on muscle biopsies from a patient with the characteristic clinical and pathological findings of nemaline myopathy. The mean fiber diameter was decreased, and the vastus lateralis muscle biopsy consisted exclusively of slow twitch (Type I) fibers. Quantitative biochemical investigations revealed significantly low calcium uptake and ATPase activity of the fragmented sarcoplasmic reticulum and decreased myosin ATPase activity. The electrophoretogram of myosin showed an abnormality in the light chain pattern which could not be explained by a disproportion of normal fiber types.