Asunto(s)
Neoplasias de Tejido Muscular , Neoplasias Hipofisarias , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de Tejido Muscular/diagnóstico , Neoplasias de Tejido Muscular/epidemiología , Neurohipófisis , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/epidemiologíaRESUMEN
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.
Asunto(s)
Enfermedades de los Gatos/genética , Distrofia Muscular Animal/genética , Animales , Gatos , Distrofina , Técnica del Anticuerpo Fluorescente , Histocitoquímica , Immunoblotting , Masculino , Proteínas Musculares/genética , Músculos/análisis , Músculos/patología , Distrofia Muscular Animal/patología , Cromosoma XAsunto(s)
Infarto Cerebral/complicaciones , Síndrome de Horner/etiología , Enfermedades Hipotalámicas/complicaciones , Anciano , Infarto Cerebral/diagnóstico por imagen , Infarto Cerebral/patología , Síndrome de Horner/diagnóstico por imagen , Síndrome de Horner/patología , Humanos , Enfermedades Hipotalámicas/diagnóstico por imagen , Enfermedades Hipotalámicas/patología , Hipotálamo/irrigación sanguínea , Masculino , RadiografíaAsunto(s)
Neoplasias Encefálicas/secundario , Carcinoma de Células Escamosas/secundario , Acueducto del Mesencéfalo/fisiopatología , Dominancia Cerebral/fisiología , Mesencéfalo/fisiopatología , Enfermedades del Sistema Nervioso/fisiopatología , Neoplasias Encefálicas/patología , Neoplasias de la Mama/patología , Carcinoma de Células Escamosas/patología , Movimientos Oculares , Marcha , Humanos , Masculino , Mesencéfalo/patología , Persona de Mediana Edad , Nistagmo Patológico/fisiopatología , PosturaAsunto(s)
Enfermedades del Sistema Nervioso/genética , Adolescente , Adulto , Azores/etnología , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , New EnglandRESUMEN
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.
Asunto(s)
Encefalopatías/patología , Enfermedad de Whipple/patología , Adulto , Encefalopatías/complicaciones , Corteza Cerebral/patología , Proteínas del Líquido Cefalorraquídeo/análisis , Demencia/etiología , Lóbulo Frontal/patología , Humanos , Macrófagos , Masculino , Lóbulo Parietal/patología , Reacción del Ácido Peryódico de Schiff , Convulsiones/etiología , Infecciones Estreptocócicas/complicaciones , Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/etiologíaRESUMEN
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.
Asunto(s)
Ataxia/genética , Encéfalo/patología , Médula Espinal/patología , Adolescente , Adulto , Ataxia/patología , Azores , Población Negra , Diplopía/genética , Emigración e Inmigración , Movimientos Oculares , Femenino , Estudios de Seguimiento , Marcha , Humanos , Masculino , Massachusetts , Persona de Mediana Edad , Nistagmo Patológico/genética , Linaje , Núcleos Vestibulares/patología , Población BlancaRESUMEN
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.