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

Vitamin D dependent rickets type II is an autosomal recessive disease caused by the vitamin D defective receptor. More than 200 patients with different types of lower limb deformities were detected in a rural area of the Cauca department in the southwest part of Colombia. Patients were well nourished and in good physical condition in spite of their deformities. None of them presented alopecia, myopathy, seizures or aminoaciduria. Serum analysis showed significantly lower serum calcium as compared to normal relatives, though in the normal low range, normal phosphorus, high alkaline phosphatase, normal 25-hydroxyvitamin D3 and high 1,25-dihydroxyvitamin D3, indicating target organ resistance. The cDNA analysis showed normal nucleotide sequence. We suggest that our patients represent a distinct form of receptor-positive resistance to vitamin D. This report is the first extensive study on this class of patients.
 ...
PMID:Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children. 758 52

We report three neonates with transient hypoparathyroidism with elevated parathyroid hormone (PTH) levels to clarify further the pathogenesis of late neonatal hypocalcemia and calcium homeostasis. Clinical signs were seizures starting at age of 10 and 11 days. The biochemical features were characterized by transient hypocalcemia and hyperphosphatemia due to a high transport maximum of the phosphate/glomerular filtration rate, despite high PTH levels. All had normal magnesium and calcidiol levels (at least 5 micrograms/l) for their age, and this precludes hypoparathyroidism due to low magnesium levels and hyperparathyroidism due to overt vitamin D deficiency. To diagnose pseudohypoparathyroidism type I, intravenous human PTH (1-34) infusions were performed; however, they showed brisk responses of plasma and/or urine cyclic AMP in response to the PTH infusion, but the phosphaturic response to the PTH was sluggish compared to the controls. All three showed an increase in serum alkaline phosphatase activity, suggesting PTH stimulation of osteoblasts. They were treated initially with calcium lactate or (1 alpha)-hydroxycalciol/calcitriol. Their hypoparathyroid condition, however, was transient; they maintained normal serum calcium and PTH levels without medication before the age of 6 months. The etiology, possibly intracellular signal transduction distal to cyclic AMP and/or distinct from adenylate cyclase in the kidney, is developmental and the condition was resolved completely within 6 months of age. We have termed this condition "transient pseudohypoparathyroidism of the neonate".
 ...
PMID:Transient pseudohypoparathyroidism of the neonate. 765 38

The object of the study was to discover the changes in the plasma activities of hepatic enzymes in patients on anticonvulsant drugs. The plasma activities of aspartate transaminase (AST), alkaline phosphatase (ALP), alanine transaminase (ALT) and glutamyltransferase (GGT) were studied in 123 unselected patients on anticonvulsants. The results were compared with 123 control patients not on anticonvulsants matched for age and sex. Patients with known liver disease were excluded. The plasma activities of AST and ALP were similar in the two groups. ALT and GGT were raised in patients on anticonvulsants. No patient developed clinical evidence of liver disease. It was concluded that raised ALT and GGT are not in themselves indications to alter anticonvulsant therapy. Changes in AST and ALP would be more specific markers of liver dysfunction in patients on anticonvulsants.
Seizure 1993 Dec
PMID:Plasma activities of hepatic enzymes in patients on anticonvulsant therapy. 790 70

Sulfites are usually added to food, beverages and pharmaceuticals as preservative antioxidants, bleaching agents, and dough conditioning agents. Ingestion of foods containing sulfites can cause abdominal pain, diarrhoea, seizures and death. Sulfite can react with cellular components and can cause toxicity. Changes in mucosal disaccharidases and phosphatase alkaline after sodium metabisulfite administration were investigated in the small intestine of rats. Female Wistar rats were given a diet supplemented with 0.25 or 2.5% sodium metabisulfite for 5 weeks. Sucrase, maltase, lactase and alkaline phosphatase were assayed in intestinal homogenates and in brush border membrane fractions. The intake of only 2.5% sulfite induced an increase in the specific activities of sucrase, maltase, and alkaline phosphatase compared to control levels (P < 0.05). Lactase levels were affected in a variable manner. The origin of such altered enzyme activities is still unknown.
 ...
PMID:Effect of sulfite intake on intestinal enzyme activity in rats. 795 44

Neutral and alkaline phosphatase activities were studied in small synaptosomes isolated from rat brain and cerebellum after administration of the convulsant 3-mercaptopropionic acid (MP). Cerebral cortex phosphatase activity assayed at pH 7.2 in the presence of K+ increased both during and after seizures; when it was assayed at pH 7.2 in the absence of K+ it decreased at both stages. The enzyme activity determined in cortical fractions at pH 9.0 with or without K+ decreased in seizure and postseizure states. After MP treatment, cerebellum enzyme activity assay at pH 7.2 was higher than in controls throughout; phosphatase activity assayed at pH 9.0 decreased following MP administration except during seizures when the enzyme was assayed in the presence of K+. Such changes following MP treatment may well be related to seizure-induced alteration of phosphate ester levels or protein-kinase activities.
 ...
PMID:Differential changes in CNS phosphatase activities during seizures. 838 17

Clinical signs that included lethargy, inappetence, diarrhea, and vomiting and that progressed to seizures were observed in 40 feeder pigs that were approximately 70 days old. The pigs were fed ground red wheat and whole milk and were housed in a barn that did not allow exposure to direct sunlight. Analysis of samples of feed obtained from the farm indicated inadequate quantities of calcium and phosphorus as well as a low ratio of these 2 nutrients. Serum and tissue concentrations of vitamin A were less than normal. Low serum calcium concentrations, high serum phosphorus concentrations, and high alkaline phosphatase and creatine kinase activities were compatible with low vitamin D concentrations.
 ...
PMID:Seizures and acute death attributable to hypovitaminosis A and suspected hypovitaminosis D in feeder pigs. 849 85

Patients with epilepsy on long term antiepileptic drug (AED) therapy deserve special consideration not only concerning seizure control but also the effect on anaesthetic metabolism and hepatorenal functions. In the present study, we examined the effects of sevoflurane anaesthesia on plasma inorganic fluoride (F-) level and hepatorenal function in patients with and without AED therapy. Twenty-two patients (12 with AEDs = AED group, and ten without AEDs = control group = C group), ASA I, who were free of hepatorenal disease, received approximately 2-3 h sevoflurane anaesthesia. Plasma F- analysis was performed at the stages of: 1) induction of anaesthesia, 2) conclusion of anaesthesia, 3) 15 h after the conclusion of anaesthesia, using an ion-selective electrode calibrated with a standard solution of sodium fluoride. Pre- and postoperative hepatic (aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, total bilirubin) and renal (blood urea nitrogen, creatinine) function was tested. There were no significant differences between the two groups in the average age (AED group = 9.4 and control group = 10.1 y.o.), body weight, duration of anesthesia, and MAC hours (2.6 and 2.4). The mean peak F- levels were 15.5 and 13.6 microM, in AED and C groups (not significant), respectively. No patient exhibited F- values greater than 50 microM, the hypothetical nephrotoxic threshold. The patients showed no abnormal values either in hepatic or renal function tests postoperatively. These results suggest approximately 2-3 h sevoflurane anaesthesia to be safe in patients taking AEDs.
 ...
PMID:Clinical characteristics and biotransformation of sevoflurane in paediatric patients during antiepileptic drug therapy. 888 Aug 18

We have recently demonstrated that phenytoin, a widely used therapeutic agent for seizure disorders, has osteogenic effects in rats and in humans in vivo, and in human bone cells in vitro. The goal of the present study was to determine the mechanism of the osteogenic action of phenytoin in normal human mandible-derived bone cells. Because many osteogenic agents increased bone cell proliferation through mediation by growth factors, we tested the hypothesis that the osteogenic effects of phenytoin involved the release of a growth factor by measuring the mRNA level of several bone cell growth factors and insulin-like growth factor (IGF) binding proteins with Northern blots using specific cDNA probes. Treatment with 5-50 microM phenytoin reproducibly and markedly increased (up to 6-fold, p < 0.001) the mRNA of transforming growth factor (TGF)-beta 1, but not that of other growth factors (i.e., IGF-II, platelet-derived growth factor-A [PDGF-A], PDGF-B, and TGF-beta 2) and IGF binding proteins (i.e., IGFBP-3, -4, and -5). The stimulation was dose dependent, with an optimal dose of 10-50 microM. Maximal increase was seen after 1 h of phenytoin treatment. The release of biologically active TGF-beta activity in conditioned media was measured with the mink lung cell proliferation inhibition assay. Twenty-four hours of phenytoin treatment significantly increased the production of biologically active TGF-beta (2-fold, p < 0.05) with the optimal dose between 5-50 microM. Comparisons between the in vitro osteogenic effects of phenytoin and those of TGF-beta 1 reveal that these two agents at their respective optimal doses had similar maximal stimulatory effects on [3H]thymidine incorporation, alkaline phosphatase (ALP)-specific activity, and type I alpha-2 collagen mRNA expression in human bone cells. The stimulatory effects of phenytoin on [3H]thymidine incorporation and ALP-specific activity were completely blocked by a neutralizing anti-TGF-beta antibody. In conclusion, these findings demonstrate for the first time that at least some of the osteogenic actions of phenytoin in human bone cells could be in part mediated by TGF-beta 1.
 ...
PMID:Osteogenic actions of phenytoin in human bone cells are mediated in part by TGF-beta 1. 897 Aug 89

A treatment protocol for long-term anticonvulsant therapy (ACT) in children with tuberculous meningitis (TBM) has been followed depending upon clinical characteristics and EEG/CT scan findings suggestive of the underlying cause of convulsions. Sixty-three children which included all patients with focal seizures (FS), and those with generalized tonic and clonic seizures (GTCS), and tonic spasms (TS) manifesting more than once during hospitalization and/or associated with abnormal CT/EEG findings were given long-term ACT (Group A). Thirty-eight cases with GTCS before hospitalization, and/or not more than one seizure during first week of hospitalization and without any specific CT/EEG abnormalities (Group B) and 35 cases without any seizures (Group C) did not receive any ACT. Forty-four patients who were finally discharged on long-term ACT, were given phenobarbitone (57 per cent), phenytoin (23 per cent), and a combination of phenobarbitone+phenytoin (14 per cent), and phenobarbitone+sodium valproate (7 per cent). Follow-up was continued for 4 years with 93, 84 and 81 per cent attendance, respectively, in groups A, B and C. Some of the side-effects observed with anti-convulsant drugs included gingival hypertrophy in 11 out of 16 cases (69 per cent) on phenytoin, hyperkinetic behaviour in 3 out of 34 (9 per cent) cases on phenobarbitone, hypocalcaemia in 3 out of 44 cases (7 per cent), hypophosphataemia in 10 out of 44 cases (23 per cent) and increase in alkaline phosphatase in 14 out of 44 cases (32 per cent). CT scan of brain repeated in six cases with multiple tuberculomas showed marked improvement. While 4 out of 41 (10 per cent) cases in group A had recurrence of seizures in the follow-up, only 2 out of 28 cases (7 per cent) in group B presented with GTCS during first 3 months after discharge which was successfully controlled by long-term ACT in later part of the follow-up. Two out of 21 cases (10 per cent) in group C also presented with myoclonic seizures 3 and 5 months after discharge. There was no statistically significant difference in the recurrence/appearance of seizures in the three groups (P = > 0.05). Our results suggest that long-term ACT is not indicated in all cases of TBM with seizures. In view of the known side-effects of anticonvulsant drugs and danger of interaction with antitubercular drugs, it is mandatory to clinically evaluate the patients, identify the cause and restrict long-term ACT only to those cases who are likely to have some abnormal focus resulting in secondary epilepsy. All the cases with FS and some of the patients with GTCS and TS may need to be started on ACT. However, a close follow-up is necessary in all particularly in those for whom ACT has been withheld.
 ...
PMID:Long-term anticonvulsant therapy in tuberculous meningitis--a four-year follow-up. 898 22

We report the inactivation, via homologous recombination, of two of the three active mouse alkaline phosphatase genes, i.e., embryonic (EAP) and tissue nonspecific (TNAP). Whereas expression of the EAP isozyme was abolished in all tissues that express EAP developmentally (such as the preimplantation embryo, thymus, and testis), the EAP knock-out mice show no obvious phenotypic abnormalities. They reproduce normally and give birth to live offspring, indicating the nonessential role of EAP during embryonic development. Mice deficient in the TNAP gene mimic a severe form of hypophosphatasia. These TNAP-/- mice are growth impaired, develop epileptic seizures and apnea, and die before weaning. Examination of the tissues indicates abnormal bone mineralization and morphological changes in the osteoblasts, aberrant development of the lumbar nerve roots, disturbances in intestinal physiology, increased apoptosis in the thymus, and abnormal spleens. Our results indicate that, in the mouse, TNAP appears not to be essential for the initial events leading to bone mineral deposition but that TNAP seems to play a role in the maintenance of this process after birth. The other phenotypic manifestations may be a consequence of the lack of TNAP in the developing neural tube between stages E8.5 and E13.5 of embryogenesis. We hypothesize that the autonomic nervous system is compromised in these TNAP-/- mice.
 ...
PMID:Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. 905 46


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>