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)

Congenital carbamyl phosphate synthetase deficiency was diagnosed by liver biopsy in a 13-year-old girl, alpha-Keto analogues of essential amino acids have been shown to spare nitrogen by reducing urea formation; hence, they were given to this patient in the hope of reducing hyperammonemia and improving protein tolerance. After intravenous infusion of the keto analogues of valine, leucine, isoleucine, methionine and phenylalanine, the corresponding plasma amino acids, including alloisoleucine and tyrosine, rose sharply. Twenty-four hours later, fasting plasma ammonia had fallen from the preinfusion value of 0.050 to 0.028 mM. Protein intake was kept at 0.5 g per kilogram for two weeks. Addition of keto acids by mouth reduced plasma ammonia and alanine to normal or near normal levels. Seizures and episodes of vomiting and lethargy decreased in frequency. Urinary nitrogen decreased, suggesting that nitrogen balance improved. These data indicate that keto acids may be useful in the treatment of congenital hyperammonemia.
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PMID:Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids. 16 4

In idiopathic or generalized epilepsy, serum glucose and cholesterol concentrations tend to be low, especially just before the seizure. Glucose tolerance curves are abnormal and variable. The electrolyte balance is disturbed, and epileptics tend to go readily into alkalosis. Serum [Na+] is usually unaffected, but [K+] is normal to low between attacks and increases during and after the seizure. Serum [Cl-] is usually high just before the seizure. Epileptics are generally mildly hypocalcemic, especially in the period before the seizure. Serum urea and nonprotein nitrogen values are low between paroxysms but increase after the seizure. Serum protein concentration is usually normal. Stress, which releases epinephrine and corticotropin, results in high serum citrate concentration, which probably contributes to decreased serum [Ca2+] just before a seizure. In the healthy individual, any increase in serum citrate is accompanied by increasing [Ca2+]. In the rabbit, convulsions can be induced with corticotropin, a result of increased serum citrate concentration coupled with a decrease in [Ca2+]. The net result is severe hypo-ionic-calcemia. A similar phenomenon has been reported in a few humans. Administration of insulin causes serum citrate concentrations to decrease. Apparently, the dynamic system that controls glucose and lipid metabolism, and thus electrolyte balance, through the hormones epinephrine, corticotropin, insulin, glucagon, calcitonin, and parathormone, is abnormal in the epileptic.
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PMID:Clinical biochemistry of epilepsy. I. Nature of the disease and a review of the chemical findings in epilepsy. 22 Nov 36

Clobazam is a benzodiazepine with special molecular structure (its nitrogen radicals are in positions 1 and 5, rather than 1 and 4 as in all other antiepileptic benzodiazepines), and it is rapidly effective--in a matter of hours or within a few days--against all varieties of epileptic seizures in 52% of subjects treated with it. Its effects are relatively mild. Unfortunately, its outstanding antiepileptic properties are exhausted after only a few weeks in one-third of all cases. The authors discuss the potential significance of this phenomenon, and stress the urgent need for intensive study of the basic mechanism governing exhaustion of the antiepileptic properties of the benzodiazepines in general and clobazam in particular.
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PMID:Antiepileptic properties of clobazam, a 1-5 benzodiazepine, in man. 38 76

A synthetic procedure for the preparation of imidazolidinediones by the base-catalyzed cyclization of propargylureas is described. This method appears to be the most versatile way of obtaining these compounds containing tertiary groups substituted on ring-nitrogen number 3. One of these derivatives, 3-tert-butyl-5,5-dimethyl-2,4-imidazolidinedione (1a), has shown a moderate level of subcutaneous metrazole seizure threshold activity (scMet indicates potential for control of petit mal epileptic seizures) in control screens on mice, as determined by the National Institute of Neurological and Communicative Disorders and Stroke.
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PMID:Synthesis of imidazolidinediones and oxazolidinediones from cyclization of propargylureas and propargyl carbamates. 45 26

This study compares the effects of various so-called trimix mixtures (10, 20, and 40% N2 in He-O2) on the convulsion threshold pressure (Pc) and EEG activity in 60 adult male Wistar rats with chronically implanted electrodes with those in 20 rats in He-O2 only. Restrained animals were individually compressed with trimix mixtures at 80 or 160 atm per hour to a simulated depth of 138 ATA; colonic temperature was maintained at normal levels. Pc was defined as the initial occurrence of overt sustained generalized tonic-clonic seizures, accompanied by typical "spike and wave" patterns in all EEG leads. As in man, in rats trimix increased the depth of the onset of HPNS tremors and myoclonic jerks in all six groups of rats. However, the Pc of the trimix groups was no different from the Pc of the helium-oxygen group (113 ATA), and at 40% N2, rats showed EEG seizures but no overt convulsions. These results are discussed in relation to those of other studies showing the extension of Pc in mice and monkeys attained by adding narcotics to heliox; the paper also considers the relevance of method of compression, addition of nitrogen, core temperature, and species differences, as well as the need for EEG measurements and direct observation of overt convulsions as indicators of an effective antagonism of HPNS.
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PMID:Effect of helium/nitrogen/oxygen mixtures on HPNS convulsion threshold in euthermic rats. 53 65

The mutant, sex-linked recessive px (paroxysm) gene, expressed in female White Leghorn chicks (Gallus domesticus), causes seizures beginning on approximately day 9 after hatching. In an attempt to determine possible central nervous system involvement in the seizures, brain levels of the putative transmitter noradrenaline were assayed. Brains of px chicks and controls (normal female siblings) were removed at 7, 14, and 21 days, weighed, and frozen immediately in liquid nitrogen for later analysis by the alumina-trihydroxyindoleamine method. Noradrenaline was assayed in whole brain and in 4 brain parts: optic lobes, brainstem, cerebral hemispheres, and cerebellum. No differences between px and controls were found in whole brain or optic lobe levels. Brainstem levels of noradrenaline increased significantly with time in both groups, though px increases were more rapid. Px chicks at 21 days of age had significantly higher levels or noradrenaline in the cerebral hemispheres, while cerebellar levels were significantly lower at the same age. The differences found in brainstem, cerebral, and cerebellar noradrenaline are of interest as possible explanations for the lowered body temperature, hyperexcitability, and lack of motor coordination seen in the px chicks.
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PMID:Brain noradrenaline concentration in seizure-prone chicks, Gallus domesticus. 67 64

The synthesis of succinimide derivatives in which alkylating groups have been attached to the imide nitrogen or to the 3 position of the ring is described. The synthesis of one bis-alkylating derivative 19 is also described. The alkylating groups used were (a) alpha-haloacetyl, (b) alpha-haloacetamido, (c) maleamyl, and (d) maleimido. These compounds were prepared as potential long-acting anticonvulsants. None of the compounds showed activity against maximal electroshock or metrazole-induced seizures.
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PMID:Potential long-acting anticonvulsants. 2. Synthesis and activity of succinimides containing an alkylating group on nitrogen or at the 3 position. 92 23

Renal transplantation (11 cadaveric and 1 living-related donor) was performed in 12 pediatric recipients (mean age 10.8 years) under FK-506 immunosuppression in combination with prednisone therapy. At a mean followup of 6.1 months, patient and graft survival rates were 100% and 92%, respectively. The only graft loss was due to the recurrent hemolytic uremic syndrome 4 days after transplantation. In the functioning grafts the mean serum creatinine is 1.59 +/- 1.27 mg./dl. and the mean blood urea nitrogen is 36.3 +/- 24.6 mg./dl. Three patients take no prednisone, 5 are receiving 0.15 to 0.25 mg./kg. per day and 3 are taking 0.35 to 0.5 mg./kg. per day. There was a total of 8 rejection episodes in 5 patients. All rejection episodes were successfully reversed. Complications of transplantation included an episode of seizures in 1 patient, cytomegalovirus infection in 1 and steroid-induced diabetes mellitus in 1. Since pediatric transplant recipients are a group in whom the reduction or elimination of steroids is highly desirable, FK-506 immunosuppression may be particularly suited for use in this population.
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PMID:Pediatric renal transplantation under FK-506 immunosuppression. 137 63

Aldicarb toxicosis was diagnosed in 200 sheep that died suddenly. Carbamate insecticide toxicosis was suspected based on observed clinical signs (hypersalivation, diarrhea, urination, paddling, seizures, miosis, and deaths occurring within 1 hour). Tissue samples were submitted from 4 Columbian ewes for pathologic and analytical evaluation. Severe diffuse pulmonary edema was observed on gross and histologic examination. Inhibition of cholinesterase activity in retina (21.2-68.1% of normal activity, n = 3), brain (40.6-45.6% of normal activity, n = 3), and whole blood (27% of normal activity, n = 1) supported a diagnosis of carbamate toxicosis. Reversal of brain and whole blood cholinesterase activities (reactivation factor greater than 1.4) following an in vitro 1 hour incubation at 37 C was also consistent with carbamate poisoning. Aldicarb toxicosis was confirmed following its detection in rumen contents at 1.5, 5.5, and 334 ppm using both high-pressure liquid chromatography with UV detection and gas chromatography with nitrogen/phosphorus detection.
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PMID:Aldicarb toxicosis in a flock of sheep. 155 68

To determine the utility of the routine practice of obtaining serum chemistry values on children presenting after a seizure, we reviewed the emergency department records of 241 episodes of seizures in pediatric patients. One hundred fifty-five nonfebrile (49 initial, 106 recurrent) and 86 febrile (53 initial, 33 recurrent) convulsive episodes were analyzed. At least one serum chemistry value was obtained in 149 (64%) patients. Clinically significant abnormalities were found in 0/149 serum sodium, 0/148 glucose and blood urea nitrogen, 0/86 calcium, and 0/61 magnesium studies. We concluded that routine determination of serum chemistry values in pediatric patients presenting with a seizure is unnecessary unless specific clinical data strongly suggest otherwise.
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PMID:Absence of serum chemistry abnormalities in pediatric patients presenting with seizures. 160 2


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