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)

A wide range of clinical findings was present in 58 near-miss sudden infant death syndrome (SIDS) infants and 6 surviving twins of SIDS siblings. Specific investigations included: studies of gastro-oesophageal reflux and aspiration (24-hour oesophageal pH recordings, barium swallow, radionuclide 'milk-scan'); polygraphic studies of breathing, reflux, and sleep state; studies of upper airways disease (lateral airways radiography and endoscopy); detection of seizure activity by electroencephalography; evaluation of thiamine status by erythrocyte transketolase activity of venous blood. Thiamine deficiency was found in 12 of 43 tested infants; 5 of the deficient infants had a familial history of SIDS. Many potential mechanisms for asphyxia were found: idiopathic central apnoea (7 infants), tracheal obstruction from minimal tracheomalacia or aberrant innominate artery (4 infants), temporal lobe or generalised seizures (6 infants), gastro-oesophageal reflux (55 infants) with intrapulmonary aspiration (11 infants). The high incidence, severity, and timing of reflux were new findings. Reflux occurred in active and indeterminate sleep, but not in quiet sleep. The depression of respiratory reflexes by active sleep stresses the vulnerability to asphyxia. Two factors suggest that near-miss episodes are related to SIDS: the similar age distribution but earlier occurrence of near-miss episodes compared with age at death of SIDS infants, and the subsequent sudden death of 2 infants whose necropsies were consistent with SIDS.
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PMID:Multiple causes of asphyxia in infants at high risk for sudden infant death. 683 Mar 4

A 39-year-old man, with no history of alcohol intake, who had had an esophago-ileo-colo-gastroplasty with ileotransversostomy, developed diplopia, seizures, metabolic acidosis, and cardiac failure and finally refractory hyperdynamic shock. He died 20 h after admission to our intensive care unit from cardiocirculatory collapse. Postmortem results revealed low erythrocyte transketolase activity, which was increased by 22% by in vitro addition of thiamine diphosphate (TDP effect). Cerebral pathology showed the alterations of Wernicke's encephalopathy. We discuss the possible mechanisms of fatal cardiovascular collapse and the unusual presentation of a case without a history of alcoholic intake or clinical malnutrition.
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PMID:Neurological disturbances and hyperdynamic shock in a patient with esophagocoloplasty. 920 34

Many neurological disorders that occur frequently in lead intoxicated animals, have also been observed in thiamine deficient animals. To test whether lead intoxication could decrease the thiamine status and thresholds of electroshock seizure in rats, 3-week-old Wistar rats were treated with lead or lead plus thiamine. For comparison, a thiamine deficient group was included. Thiamine contents and transketolase activity, one of the thiamine dependent enzymes in the brain regions were significantly lowered by lead intoxication and thiamine deficiency. In both cases, thresholds of the electroshock seizure were significantly decreased. Thiamine supplementation reversed these signs and decreased the brain lead concentration in the lead treated group. The results from the present study suggest that the increased seizure susceptibility induced by lead intoxication in rats may be mediated at least in part through the changes of thiamine status.
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PMID:Lead induced thiamine deficiency in the brain decreased the threshold of electroshock seizure in rat. 1037 77

Two young females with severe morbid obesity presented with Wernicke's syndrome after Roux-en-Y gastro-jejunum bypass had been performed. The first patient had recurrent vomiting and dyplopia two months post-surgery. Physical examination indicated bilateral ophthalmoparesia with conserved convergence and ataxia. The second patient had frequent vomiting episodes over the previous three months together with lower limb hypotonia, myoclonia and generalised tonicoclonic seizures on two occasions within one year of surgery. In both cases routine blood test, ion levels (sodium, potassium, calcium, phosphates), electroencephalogram and CT scan were normal. Thiamine therapy was instigated on the basis of clinical intuition and the first patient achieved complete remission within 24 hours while the second improved gradually in that two years later only mild lower limb hypotonia and a slight cognitive deficit remains. Erythrocyte transketolase activity determinations were abnormal on two separate occasions for this second patient. Vitamin B1 determinations were not available for the first patient. In conclusion, the restriction in energy intake and the persistent vomiting together with malabsorption induced by the surgical intervention could explain the vitamin deficiency causing Wernicke's encephalopathy. This indicates a need for close monitoring and systematic vitamin supplementation in those patients who undergo bariatric surgery.
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PMID:Wernicke's syndrome after bariatric surgery. 1103 Oct 78

Thiamine (vitamin B(1)) is an essential component of a number of metabolic pathways and thiamine deficiency results in a progressive encephalopathy in both humans and animals. Confirming thiamine deficiency is problematic and relies on demonstrating reduced red blood cells transketolase activity, or indirect methods including urinary organic acid analysis and dietary analysis. The characteristic and selective vulnerability of different brain regions in carnivores has been demonstrated by magnetic resonance (MR) imaging in the dog and cat as an aid to diagnosis. A 2-year-old, female, domestic shorthair cat was presented with an acute onset of seizures and ataxia. MR imaging was consistent with thiamine deficiency and supplementation resulted in a progressive clinical improvement. Repeated MR imaging 4 days after starting thiamine supplementation revealed near complete resolution of the MR abnormalities. Repeated MR imaging following appropriate therapy may be useful to further confirm thiamine deficiency.
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PMID:Thiamine deficiency in a cat: resolution of MRI abnormalities following thiamine supplementation. 2067 25

Epilepsy is a disorder that affects around 1% of the population. Approximately one third of patients do not respond to anti-convulsant drugs treatment. To understand the underlying biological processes involved in drug resistant epilepsy (DRE), a combination of proteomics strategies was used to compare molecular differences and enzymatic activities in tissue implicated in seizure onset to tissue with no abnormal activity within patients. Label free quantitation identified 17 proteins with altered abundance in the seizure onset zone as compared to tissue with normal activity. Assessment of oxidative protein damage by protein carbonylation identified additional 11 proteins with potentially altered function in the seizure onset zone. Pathway analysis revealed that most of the affected proteins are involved in energy metabolism and redox balance. Further, enzymatic assays showed significantly decreased activity of transketolase indicating a disruption of the Pentose Phosphate Pathway and diversion of intermediates into purine metabolic pathway, resulting in the generation of the potentially pro-convulsant metabolites. Altogether, these findings suggest that imbalance in energy metabolism and redox balance, pathways critical to proper neuronal function, play important roles in neuronal network hyperexcitability and can be used as a primary target for potential therapeutic strategies to combat DRE. SIGNIFICANCE: Epileptic seizures are some of the most difficult to treat neurological disorders. Up to 40% of patients with epilepsy are resistant to first- and second-line anticonvulsant therapy, a condition that has been classified as refractory epilepsy. One potential therapy for this patient population is the ketogenic diet (KD), which has been proven effective against multiple refractory seizure types However, compliance with the KD is extremely difficult, and carries severe risks, including ketoacidosis, renal failure, and dangerous electrolyte imbalances. Therefore, identification of pathways disruptions or shortages can potentially uncover cellular targets for anticonvulsants, leading to a personalized treatment approach depending on a patient's individual metabolic signature.
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PMID:Aberrant energy metabolism and redox balance in seizure onset zones of epileptic patients. 3241 7