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Strana 1 od 25 výsledky
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
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Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of
Cortical action myoclonus due to cortical laminar necrosis.
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Myoclonus and tremor induced acutely by administration of tumor necrosis factor in a patient with Ehlers-Danlos syndrome.
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[Methyl bromide poisoning. 3 cases, 1 fatal. Neruopathological study of one case of coma with myoclonus followed for 5 years].
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Three new cases of methyl bromide poisoning (leakage from a fire extinguisher) are reported. Two of these were characterized, after an initial period of coma and myoclonic status, by an action myoclonus. Electrical data are presented. A follow up of 4 and 8 years allowed to study the effect of
Coexistence of CJD and Alzheimer's disease: an autopsy case showing typical clinical features of CJD.
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The present report concerns an autopsy case of CJD showing typical clinical features of CJD. The patient was a Japanese woman without hereditary burden or dementing disorder anamnesis who was 70-years-old at the time of death. She developed gait disturbance at age 68, followed by memory impairment,
Movement disorders in mitochondrial diseases.
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Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both
Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.
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We report a 2-year-old girl who had repeated febrile or afebrile seizures since infancy. Prolonged left/right hemiconvulsions and myoclonus of the eyelids/extremities with generalization to tonic-clonic seizures, were refractory to antiepileptic agents. At age 1 year and 4 months, she contracted
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.
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Neuraminidase deficiency (mucolipidosis I, sialidosis types I and II, cherry-red spot myoclonus syndrome) is a lysosomal storage disorder with an expanding clinical phenotype. Here, we report the striking diagnostic history of late-onset neuraminidase deficiency in two sisters, currently aged 14
[Isolated angitis of the central nervous system--case report and review].
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Isolated angitis of the central nervous system (IACNS) is rare condition with inflammation limited to vessels supplying the brain. This IACNS has been a poorly characterized and infrequently reported illness since it was first described as a separate entity in 1959. However, a patient with IACNS has
Chronic, relapsing myelitis in hamsters associated with experimental measles virus infection.
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Chronic, relapsing myelitis has been induced in golden Syrian hamsters by the intracerebral inoculation of measles virus when the animals were less than 1 day old. No acute illness was seen in animals that developed myelitis, and the onset of the myelitis was at 5 to 50 weeks after infection. In
Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus.
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We present an autopsied case with A8344G-mutated myoclonus epilepsy with ragged red fibers (MERRF)/mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus. A 16-year-old Japanese
Venous disorders: treatment with sclerosant foam.
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OBJECTIVE
Treatment of venous insufficiency has been revolutionized by introduction of less invasive endovenous procedures. Foam sclerotherapy competes with these for truly minimal less invasive care. The idea of using air and drug in combination is quite old. Orbach described an air block technique
Acute toxicity of guaiacol administered subcutaneously in the mouse.
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Guaiacol is a compound used as expectorant. In Mexico City, this product is being illegally used for aesthetic treatment with fatal results. The aim of this study is to confirm the lethal toxicity documented in humans. Male Swiss Webster mice (CFW) 30-45g were employed. Dose-response curves to
Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.
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We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis
[Familial mitochondrial encephalopathy. A clinicopathologic study].
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We report the cases of 2 siblings with progressive encephalopathy. The first symptoms were noted when they were 6 years old. The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and retinal degeneration, deafness, swallowing difficulties with
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