Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The present report documents a family with three cases in two successive generations of pigmentary orthochromatic leukodystrophy (POLD). The clinical features of these cases and histochemical and ultrastructural investigations of two of the brains from successive generations are discussed. A review of the familial cases of POLD reported in the literature is also presented. Transmission of these cases was by a dominant inheritance. Onset of the clinical symptoms occurred at 42 to 54 years of age; duration of the disease was from 2-11 years, and death occurred at 45 to 57 years of age. Clinical manifestations of all three cases were severe headaches; bilateral pyramidal, pseudobulbar, cerebellar, and frontal release signs; gait disturbances; euphoria, or apathy; epileptic seizures; and dementia. The neuropathological pattern consists of slight cerebral atrophy, brownish discoloration of the cerebral white matter with demyelination and severe gliosis, sparing the sub-cortical U fibers; presence in the macrophages of lipid pigment granules that are sudanophilic, non metachromatic, and PAS and iron positive. The electron microscopic pattern of the lipid pigment in the macrophages is that of ceroid: electron-dense, membrane-bound intracytoplasmic lysosomes with curvilinear and/or fingerprint profiles.
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PMID:The dominant form of the pigmentary orthochromatic leukodystrophy. 172 27

We report 10 seizure-related thermal injuries severe enough to require hospitalization in patients with epilepsy. Eight of the ten incidents were with patients who had had seizures with impaired consciousness two or more times a month. This suggests that seizure frequency is a risk factor and implies the importance of striving for optimal seizure control. Two burns each occurred from an electric iron, a hand-held hair dryer, and stove-top cooking. Minimizing these activities, especially in patients with frequent consciousness-altering seizures, may be useful. Three burns occurred while showering; these resulted in the most severe injuries, with hospital stays of 29, 30, and 41 days. Simple plumbing devices may have prevented these injuries.
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PMID:Severe burns as a consequence of seizures in patients with epilepsy. 173 40

Aberrant iron metabolism in the brain is typified by Hallervorden-Spatz syndrome. In this disorder, large amounts of iron are deposited in the globus pallidus and the pars reticulata of the substantia nigra. It is characterized by extrapyramidal dysfunction, as demonstrated by dystonia, rigidity, and choreoathetosis; onset during the first two decades of life; and progression of signs and symptoms. Corroborative findings include corticospinal tract involvement, ie, spasticity and extensor toe signs, progressive intellectual impairment, retinitis pigmentosa and optic atrophy (usually associated visual evoked response and electroretinogram abnormalities), seizures, familial occurrence, hypointense areas in the basal ganglia on magnetic resonance imaging scans (particularly in the substantia nigra), abnormal cytosomes in circulating lymphocytes, and sea-blue histiocytes in bone marrow. Iron function in normal brain metabolism is manifold, but high concentrations of iron in the basal ganglia area may signal a unique relationship. Data support the likelihood that iron plays a role in the modulation of dopamine binding to postsynaptic receptors. In addition, transferrin receptors and iron are also concentrated in oligodendrocytes in normal brain and, thus, may have a function in myelination. A role of iron also seems likely in oxidation and peroxidation reactions involving membranes and DNA, a capability that becomes uncontrolled when protective biologic mechanisms become inadequate.
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PMID:Hallervorden-Spatz syndrome and brain iron metabolism. 184 35

We report on a 4 generation family of individuals with an X-linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a "presenile dementia." At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
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PMID:New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. 201 58

Head trauma with cerebral contusion causes extravasation of red blood cells, followed by hemolysis and deposition of iron-containing blood products within the neuropil. Liberation of heme compounds is associated with deposition of hemosiderin, and with gliosis, neuronal loss and occasionally the development of seizures. In this experiment we injected components of red blood cell contents into rat amygdala, and then measured the rate of appearance of products of lipid peroxidation. Injection of microliter volumes of hemin and hemoglobin, with hematoprotoporphyrin and rodent plasma injection and contralateral uninjected tissue as controls, showed that the presence of the iron moiety within the protoporphyrin ring was required to initiate and propagate peroxidation. Free radical reactions initiated by iron or heme deposited within the neuropil may be a fundamental reaction associated with brain injury responses, and possibly with posttraumatic epileptogenesis.
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PMID:Iron-induced lipid peroxidation and brain injury responses. 205 18

Therapy with recombinant human erythropoietin (rHuEPO) can reverse anemia and improve the quality of life in anemic hemodialysis patients. However, therapy is costly and must be used efficiently. An initial rHuEPO dose less than 50 U/kg intravenously three times weekly may be adequate to achieve a hematocrit of 30-33% in many patients. Acquired iron deficiency is a common problem during rHuEPO therapy and must be prevented with oral and parenteral iron replacement to maintain the efficacy of rHuEPO. Patients should be monitored carefully for additional problems including: an increase in blood pressure; onset of seizures or headaches; increased blood potassium, phosphate, and creatinine concentrations; enhanced coagulability resulting in dialyzer and vascular access clotting; and myalgias with a 'flu-like' syndrome.
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PMID:Practical approach to initiation of recombinant human erythropoietin therapy and prevention and management of adverse effects. 226 Jun 19

Since trace element abnormalities have been found in the human epileptic population, trace element concentrations were determined in blood and tissues of genetically epilepsy-prone rats both exposed to an unexposed to seizure-inducing stimuli and in genetically related epilepsy-resistant rats. Half of the epilepsy-prone group were exposed to seizure-inducing sound twice daily for 3 weeks. Food intake and weight gain were monitored for each animal. Genetically epilepsy prone rats with induced seizures consumed significantly less food and gained less weight than did the epilepsy resistant group. Seizure prone rats without seizures consumed the same amount of food as the resistant rats but gained less weight than the resistant strain but more than the seizure-induced animals. Epilepsy-prone animals had significantly altered trace element concentrations in tissues as compared with the resistant animals independent of seizure induction. Brain and liver iron, liver copper, and brain and heart manganese levels were all significantly lower in the seizure-prone rats as compared with the seizure-resistant rats. In the seizure-prone rats, induction of seizures resulted in an increase in brain and heart zinc levels and a decrease in whole blood manganese levels. These results demonstrate that both genetic factors relevant to susceptibility to seizures and the seizures themselves are associated with changes in trace element concentrations.
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PMID:Genetically epilepsy-prone rats are characterized by altered tissue trace element concentrations. 234 41

Injection of iron-chloride solution unilaterally into the hippocampus of albino rats induced transient seizure activity which lasted approximately 2 weeks. Frontal and parietal cortices of experimental rats, control rats which received NaCl injections, and unoperated normal rats were compared by means of a Golgi stain which demonstrated astrocytes and their processes in their entirety. Morphometric analysis showed that cortical astrocytes of rats having intermittent seizure activity over a prolonged period were significantly larger than cortical astrocytes of control rats. These findings indicate that seizure activity causes structural brain changes at anatomical sites distant from the hippocampal seizure focus. Similar phenomena may contribute to the development of psychiatric and neurological changes in the epileptic patient.
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PMID:Structural changes in astrocytes induced by seizures in a mode of temporal lobe epilepsy. 239 12

Intraventricular injection of iron causes seizures and lipid peroxidation in brain tissue. To determine the effects of iron-induced lipid peroxidation on GABA uptake and release, synaptosomal fraction was prepared from 30-day-old iron-treated and control Wistar rats. Our data demonstrated that GABA release was more severely damaged than GABA uptake by lipid peroxidation. This imbalance between release and uptake may reduce GABA inhibition, which could contribute to the neurochemical pathogenesis of iron-induced seizures.
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PMID:Effects of lipid peroxidation on GABA uptake and release in iron-induced seizures. 250 48

A 33-year-old male patient showed increasing frequency of seizures 12 years after a blunt head injury. From findings of x-ray computed tomography, the lesion was thought to be a benign glioma. Removal of the lesion was performed with the guidance of electrocorticography. Histological diagnosis was gliotic scar with calcification. Diffuse iron particles were detected in layers II-V of the cortex by hematoxylin and Berlin-Blue stain. These findings suggest progressing traumatic epilepsy which may be explained by the mechanism of Willmore's model.
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PMID:Iron in cicatrix and abnormal CT findings in a patient with posttraumatic epilepsy. 250 49


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