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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describes a case of Menkes' disease, sex-linked recessive hereditary disease characterized by early progressive psychomotor deterioration, failure to gain weight, seizures, hypothermie and characteristic Kinky hair (Pilitorti). This boy is a blind child, unable to fix and follow light. Fundus examination shows optic nerve atrophy with tortuosity of the retinal blood vessels. The case is discussed in the light of similar and others reports in the literature. The disease is believed to be cause by a generalized copper deficiency in the body by defect in copper intestinal absorbtion. The pathologic changes in the retina are similar to those seen in the brain which shows diffuse neuronal degeneration lose of nerve filers and optic atrophy. Retinal changes should be reversible by short term systemic copper administration.
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PMID:[Menkes' disease: apropos of a recent case]. 15 8

The observation in 14 dialysis patients of an encephalopathy associating myoclonia, dysarthria, generalised seizures in some cases, worsening over a few months, led to an aetiological inquiry based upon comparative study of patients with or without encephalopathy treated in the same centre or at home, and controls. Higher levels of aluminium were found in the frontal cortex grey matter of encephalopathy patients as compared to the control group. The same applies to manganese in the white matter. Copper, zinc and iron contents were not different. Aluminium levels in blood, dialysis bath and tap water supply were higher in center dialysis than in home dialysis. Blood aluminium levels at the end of hemodialysis were correlated with bath aluminium levels. The ingestion of alumine gels was not greater in the encephalopathy patients than in other hemodialysis patients; its estimation, in each case, was not related to the blood aluminium levels at the begining of hemodialysis. These finding indicate the need of a routine measure of metal content - mainly aluminium and manganese - in tap water used for dialysis, in order to treat this water if necessary.
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PMID:[Progressive myoclonic encephalopathy in dialysis patients. The role of the water used for haemodialysis (author's transl)]. 65 14

We determined zinc, copper, magnesium, and calcium concentrations by atomic absorption spectrophotometry in the plasma of 30 patients hospitalized for treatment of seizures during a period of alcohol withdrawal. Those patients who developed delirium tremens or a prolonged hallucinatory state had significantly higher plasma copper concentrations (P = 0.026), significantly lower zinc concentrations (P = 0.004), and significantly higher copper/zinc ratios (P = 0.001) than the patients who recovered uneventfully. Zinc deficiency may be one of the factors that contribute to the neurologic complications of alcoholism. A determination of the plasma copper/zinc ratio early in the course of alcohol withdrawal could be of value in indicating which patients have the most substantial underlying disease or metabolic imbalance and therefore may be at greatest risk of developing delirium tremens or prolonged hallucinosis.
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PMID:Plasma calcium, copper, magnesium, and zinc concentrations in patients with the alcohol withdrawal syndrome. 68 16

The authors report the sixth case of Menkes' kinky hair disease. This boy has been observed for as long as 16 months, and he his still alive at the time of publication. This genetic, X linked disorder of copper metabolism is always fatal in childhood. Diagnosis is evoked when is noted the conjunction of progressive cerebral degeneration, seizures, with pili torti and monilethrix. It can be asserted with the very low copper and cerulo-plasmin blood levels. Recognition of the disease in utero might be possible. New findings in skin' electron microscopy and hair' scanning electron microscopy are reported here. And two RX scanner of the brain have been performed.
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PMID:[Menkes' disease (new skin and hair ultrastructural abnormalities) (author's transl)]. 70 42

We examined CSF copper and zinc concentrations in 30 children with acute febrile illness and meningism (control group) and in 37 patients with shortlasting seizures, febrile or not, and acute viral meningitis. The trace elements were quantitatively measured by means of atomic absorption spectrophotometry. 1. It was shown that the concentrations of copper and zinc in CSF remain constant during childhood.--2. No increase could be found in the concentrations of copper and zinc in CSF caused by the neurological diseases of our patients. These data suggest that permanent cerebral lesions as a consequence of shortlasting seizures and viral meningitis would be very unlikely and that a transient dysfunction of metabolism does not liberate copper- and zinc-metallo-proteins in CSF. 3. There was no correlation between the protein concentration in CSF and copper and zinc concentrations in CSF.
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PMID:[Copper and zinc in cerebrospinal fluid of children with neurological diseases (author's transl)]. 73 23

The effects of pyridoxine deficiency and the administration of supplemental vitamin B6 on audiogenic and electroconvulsive seizures were studied in two inbred strains of mice and their F1 hybrids. Pyridoxine deficient diets increased seizure risk, whereas supplemental vitamin B6 protected these animals against seizures. Penicillamine and thiosemicarbazide, at doses which lowered brain levels of pyridoxine by only 10%, increased seizure risk. Diets deficient in zinc and copper did not alter susceptibility to either audiogenic or electroconvulsive seizures. DBA/2J mice, genetically susceptible to audiogenic seizures, have the same endogenous levels of pyridoxine in the brain as do C57Bl/6J mice, which are resistant to audiogenic seizures.
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PMID:Levels of pyridoxine and susceptibility to electroconvulsive and audiogenic seizures. 117 97

The method of blood-free isolated perfused rat brain was described, of which EEG was within the normal range. The simultaneous measurement of heme a+a3 and copper in cytochrome oxidase could be performed under the various conditions such as graded hypoxia and seizure. The relationship between these two chromophores in the brain was same to that of isolated mitochondria.
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PMID:Brain oxygenation state: preparation of isolated perfused rat brain and near-infrared spectrophotometry. 133 47

The author presents and discusses the anaesthetic implications of a four-month-old infant with Menkes' syndrome who required tracheostomy. Menkes' syndrome is an X-linked recessive disorder of copper absorption and metabolism. Defective processing of copper results in abnormalities of several enzyme systems leading to severe dysfunction of multiple organ systems. Due to the progressive nature of this disorder and its severe effects on several different organ systems, most importantly the central nervous system, these children frequently require anaesthetic care during imaging procedures such as MRI or during various surgical operations. The high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, and airway complications related to poor pharyngeal muscle control are of concern to the anaesthetist. In addition, defective collagen formation, similar to that seen in Ehlers-Danlos syndrome, may be present. Identification of these associated conditions during the preoperative examination will guide the selection of appropriate, safe anaesthetic care for these children.
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PMID:Anaesthetic considerations in the child with Menkes' syndrome. 139 61

Incubation of rat brain synaptosomes and mitochondria with LPO inducers (Fe2+ and ascorbate) was accompanied by a decrease of deamination of serotonin (substrate of MAO-A) in mitochondria, but not in synaptosomes, with simultaneous stimulation of GABA and GLCA deamination, apparently owing to modification of catalytic properties of brain membrane-bound MAO. Oxidation of PEA (substrate of MAO-B) was insignificantly altered in both fractions. Reactions of deamination of serotonin, GABA, and GLCA (but not PEA), were highly sensitive to a selective inhibitor of MAO-A pyrazidol (pyrlindole). Isoniazid and hydrazides of quinoline carbonic acids (inhibitors of both modified MAO and copper-containing amine oxidases) strongly inhibited deamination of GABA and GLCA. During epileptiformic seizures in rats, genetically selected for high incidence of audiogenic epilepsia, stimulation in brain synaptosomes and mitochondria of LPO was observed. This was accompanied by a marked decrease in serotonin and PEA deamination, with a simultaneous increase in GABA and GLCA deamination in both fractions. The data obtained suggest that appearance of GABA-deaminating activity owing to modification of catalytic properties of MAO, might be an essential pathogenetic component in the development of epileptic seizures.
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PMID:The role of lipid peroxidation in the possible involvement of membrane-bound monoamine oxidases in gamma-aminobutyric acid and glucosamine deamination in rat brain. Focus on chemical pathogenesis of experimental audiogenic epilepsy. 152 Apr 3

The possible role played by superoxide dismutase (SOD), a major defense system for counteracting the toxic effects of oxygen free radicals, in amygdaloid (AM) kindling was examined in rats. A significant increase of total SOD activity in the whole brain was observed 30 days after completion of AM kindling. Intra-AM injection of 3 ng of one of the 2 SOD enzymes present in mammalian brain, i.e. cytosolic SOD containing copper and zinc (CuZn-SOD) caused suppression of kindled seizure. These results suggest that SOD participates in the persistence of AM kindled seizure susceptibility and the initiation of kindled AM seizure.
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PMID:Increased activity of superoxide dismutase in kindled brain and suppression of kindled seizure following intra-amygdaloid injection of superoxide dismutase in rats. 174 63


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