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Mostrando 25-36 de 44 artigos, teses e dissertações.
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25. Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report.
Three members of a family were affected by an autosomal dominant disorder comprising cerebellar ataxia, sensorineural deafness, myoclonus, and peripheral neuropathy. This is the second kindred with this syndrome reported to date. Necropsy of the proband showed loss of cells in the dentate nuclei, a reduced amount of cerebellar white matter, and pallor of the
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26. Haemorrhagic diathesis in children associated with vitamin K deficiency
A haemorrhagic diathesis is described in infants; this is preceded and accompanied by constitutional symptoms such as fever, diarrhoea, vomiting, anorexia, and pallor. These children had a severe coagulation abnormality, due to deficiency of vitamin-K-dependent coagulation factors, and it was corrected by administration of vitamin K. No conclusion could be d
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27. Basal encephalocele and morning glory syndrome.
Basal encephaloceles are often associated with other midline anomalies such as hypertelorism, broad nasal root, cleft lip, and cleft palate. Optic disc anomalies such as pallor, dysplasia, optic pit, coLoboma, and megalopapilla have been reported to occur in patients with basal encephalocele We report a case of a child with a sphenoethmoidal encephalocele an
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28. The optic disc in glaucoma, III: diffuse optic disc pallor with raised intraocular pressure.
Ten patients (14 eyes) with chronic simple glaucoma are described, each with features atypical for this disease and more suggestive that each had suffered an acute ischaemic optic neuropathy. Diagnosis of an acute ischaemic optic neuropathy in these cases is important, as treatment of ocular hypertension in the contralateral 'normal' eye may prevent a simila
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29. Identification of glaucomatous visual field defects from examination of monocular photographs of the optic disc.
A study was carried out of monocular disc photographs from 33 eyes for which the visual fields on both static profile and kinetic perimetry has been performed. Physical signs looked for at the optic disc included thinning of the neuroretinal rim, angulation of retinal vessels, extension of laminar dots, undercutting of the neuroretinal rim, and absence and p
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30. Neurally Mediated Syncope
Neurally mediated syncope is a disorder of the autonomic regulation of postural tone, which results in hypotension, bradycardia, and loss of consciousness. A wide variety of stimuli can trigger this reflex, the most common stimulus being orthostatic stress. Typically, a patient with neurally mediated syncope experiences nausea, lightheadedness, a feeling of
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31. Effects of experimental hyperlipoproteinaemia on the retina and optic nerve in rhesus monkeys.
Hyperlipoproteinaemia resulting from thyroid suppression and long-term ingestion of a high cholesterol diet caused prolonged lipaemia retinalis in 6 rhesus monkeys. No atherosclerotic deposits or other ophthalmoscopically visible changes of the retinal vasculature were detectable. In 2 animals histopathological examination revealed segmental atrophy and glio
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32. Lupus-related myelopathy: report of three cases and review of the literature.
Transverse myelopathy is an uncommon complication of systemic lupus erythematosus (SLE). Three patients with SLE are reported who developed transverse myelopathy, including the neuropathological findings in one patient on whom necropsy was performed. Paraparesis was present in all three cases, but definite sensory changes were present in only one patient. In
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33. Monocular temporal hemianopia.
Monocular temporal hemianopia was identified in 24 patients. The field of the fellow eye was normal. Computed tomography or magnetic resonance imaging showed juxta-sellar lesions in 19 patients. Fifteen had pituitary adenomas, two had tuberculum sella meningiomas, one a craniopharyngioma, and one an astrocytoma. One patient had optic neuritis. A relative aff
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34. Dementia of frontal lobe type and motor neuron disease. A Golgi study of the frontal cortex.
Neuropathological findings in a 38 year old patient with dementia of frontal lobe type and motor neuron disease included pyramidal tracts, myelin pallor and neuron loss, gliosis and chromatolysis in the hypoglossal nucleus, together with frontal atrophy, neuron loss, gliosis and spongiosis in the upper cortical layers of the frontal (and temporal) lobes. Mos
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35. Electrophysiology and colour perimetry in dominant infantile optic atrophy.
A typical finding in dominant infantile optic atrophy (DIOA) is the variation of the phenotypic expression of the DIOA gene even within one family. It is of special interest for genetic consultation to evaluate an examination method for detecting subclinically involved patients. Seven patients of two families were examined. Three of them had the typical symp
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36. Brain damage and mortality in dogs following pulsatile and non-pulsatile blood flows in extracorporeal circulation
In a series of 20 dog experiments, total cardiac bypass was followed by a high rate of mortality during the first 12 postoperative hours. Only five dogs survived for one week, but a further three dogs were perfuse-fixed after shorter periods of survival. All dogs developed pulmonary alveolar haemorrhages and seven of the eight perfuse-fixed brains exhibited