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

A 5-year-old boy with severe mental retardation and spastic quadriplegia accompanied by tonic seizures and hyperammonemia was diagnosed as having argininemia due to an arginase deficiency in his erythrocytes. His motor and mental abilities began to deteriorate at the age of 3 years. Thereafter, he lost his ability to stand alone, to sit and even to crawl by himself. After he was diagnosed as argininemia , a protein restricted diet was given as therapy, which was accompanied with a supplement of essential amino acids. However, his clinical condition had not improved very much. The erythrocytes in a normal person was found to have the ability to decrease the patient's elevated plasma arginine level to normal when they are mixed in vitro. First we tried replacing his red cells by a blood transfusion. Then we replaced them with the aid of an IBM 2997 blood cell separator. Following this his clinical and biochemical condition improved, and as a result so did his sitting and crawling abilities. It appears that the replacement of red blood cells improves not only the clinical and biochemical conditions, but the general condition of the patient as well.
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PMID:A successful trial of enzyme replacement therapy in a case of argininemia. 672 10

An 8-year-old revealed the karyotype 46,XX,del(1)(q21 leads to q25). Both parents had normal chromosomes. The patient showed the following findings: underweight at birth, severe growth deficiency (at 7 9/12 years, length, weight and head circumference were at the levels of 24, 18 and 6 months, respectively), delayed bone age; bilateral cleft lip and cleft palate; a pattern of facial dysmorphic stigmata including a short, bulbous nose, exotropia, anisocoria, absence of some teeth, poorly modeled auricles; very small hands and feet with short fingers and toes, and broad thumbs and big toes exhibiting dysplastic, hyperconvex nails; in radiographs multiple phalangeal cone-shaped epiphyses, bifid terminal phalanges of the thumbs and half-moon shaped terminal phalanges of the big toes and absence of the 12th ribs. The patient suffered from seizures and from recurrent otitis and pyuria. Motor and mental development were profoundly delayed: at 8 years she was unable to sit up, had no speech and barely responded to her environment. As the proband and her parents were Fya/Fyb, location of the Duffy locus on segment 1q22 leads to 1q24 can be excluded.
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PMID:Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies. 693 55

A 7-yr.-old Bangladeshi boy with autistic disorder, unspecified mental retardation, asthma, pica, and generalized tonic seizures, presented for hyperactivity, aggression, and disruptive behaviors. He had a history of an elevated blood lead level. He was being treated with haloperidol and valproic acid. He was assessed in an unstimulated state for the occurrence of adventitious movements. He exhibited hand flapping, jumping, running, and spinning as well as other motor and phonic stereotypes typical of autistic disorder. Although the presence of subjective distress and a sensation of inner restlessness could not be ascertained given his cognitive impairments, the objective picture of constant leg movement and inability to sit still was consistent with akathisia. The hyperkinesias may be due to autistic disorder, multiple comorbid conditions, and medications. Further studies with large populations of medicated and unmedicated children with autistic disorder are needed to characterize further the associated movement disorders which may result from neurological disorders and pharmacological treatments.
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PMID:Hyperkinesias in a prepubertal boy with autistic disorder treated with haloperidol and valproic acid. 912 23

We report six patients with glutaric aciduria type 1 in four families. The patients had marked clinical variability, even within families. Three of the patients studied were normal until the onset of neurologic abnormalities, that presented as an encephalitis-like illness in the first year of age. One patient had an early and important developmental delay, but never suffered an encephalopathic crisis. Two patients have intellectual preservation; one of them has a mild tremor and choreoathetosis since the first year of age, and the other had only two afebrile seizures in infancy and no other neurologic signs. Three patients are severely handicapped, with a severe dystonic-dyskinetic disorder and unable to even sit. All the six patients have macrocephaly and in all the computed tomography showed enlarged CSF spaces and sulcal separation over the frontal and temporal lobes. Urine organic acids study of all patients showed large quantities of glutaric acid.
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PMID:[Glutaric aciduria type 1: phenotypic variability. Report of 6 patients]. 985 Jul 48

Convulsions associated with cocaine abuse can be life threatening and resistant to standard emergency treatment. Cocaine (75 mg/kg, i. p.) produced clonic convulsions in approximately 90% of male, Swiss-Webster mice. A variety of clinically used antiepileptic agents did not significantly protect against cocaine convulsions (e. g., diazepam and phenobarbital). Anticonvulsants in clinical practice that did significantly protect against convulsion did so only at doses with significant sedative/ataxic effects (e.g., clonazepam and valproic acid). In contrast, functional N-methyl-D-aspartate (NMDA) antagonists all produced dose-dependent and significant protection against the convulsant effects of cocaine. Anticonvulsant efficacy was achieved by blockade of both competitive and noncompetitive modulatory sites on the NMDA receptor complex. Thus, competitive antagonists, ion-channel blockers, polyamine antagonists, and functional blockers of the strychnine-insensitive glycine modulatory site all prevented cocaine seizures. The role of NMDA receptors in the control of cocaine-induced convulsions was further strengthened by the positive correlation between the potencies of noncompetititve antagonists or competitive antagonists to block convulsions and their respective affinities for their specific binding sites on the NMDA receptor complex. Although some NMDA blockers produced profound behavioral side effects at efficacious doses (e.g., noncompetitive antagonists), others (e.g., some low-affinity channel blockers, some competitive antagonists, and glycine antagonists) demonstrated significant and favorable separation between their anticonvulsant and side effect profiles. The present results provide the most extensive evidence to date identifying NMDA receptor blockade as a potential strategy for the discovery of agents for clinical use in averting toxic sequelae from cocaine overdose. Given the literature suggesting a role for these drugs in other areas of drug abuse treatments, NMDA receptor antagonists sit in a unique position as potential therapeutic candidates.
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PMID:Anticonvulsant efficacy of N-methyl-D-aspartate antagonists against convulsions induced by cocaine. 1021 43

This paper evaluates the laboratory and environmental factors that induce seizures in photosensitive epileptic patients. The aims are (i) to identify those factors that trigger seizures so that the patients could take preventive measures, (ii) to advise the patients on appropriate preventive measures that could be taken to avoid spontaneous seizures. Thirty-six photosensitive epileptic patients were studied. The electroencephalographic laboratory seizure-inducing factors identified were intermittent photic stimulation (IPS), flickering lights from both the TV and the visual display unit (VDU) at various flashes per second, grid patterns (vertical, horizontal lines, squares, black and white lines) of various cycles per degree, and blank screens. In the environmental factor investigation, 10 out of 36 patients had series of seizures induced by narrow stripes of black and white, or white and red striped coloured dresses especially, when stepping outdoors on sunny days. Other environmental factors identified include moving escalators; 'moving' trees, bushes, and houses when travelling in a vehicle, including trains; faceted patterns in the bathroom windows with light passing through; swirling light patterns especially on displayed objects of black and white colours; telegraphic post, gantry post, and luminance variance when stepping outdoors from the dark in bright sunlight. The effective preventive measures were: (i) patients should occlude one eye when travelling in a vehicle or using computers or when stepping outdoors on a sunny day, or when there are various patterns before them, (ii) patients should sit at least 3 metres away from the TV when watching a programme, (iii) they should avoid any object that transmits luminance variance; if this is not possible, they should occlude one eye.
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PMID:Evaluation of the laboratory and environmental factors that induce seizures in photosensitive epilepsy. 1042 55

Spitting (or expectoration) is rarely seen with seizures. In Western society, spitting is a striking behavioral aberration. A 13-year-old child had intermittent agitated behavior, episodes of rage, spitting and confusion lasting up to 2 minutes. He stood up in church and told the preacher to 'shut up and sit down'. Epilepsy monitoring revealed spitting with polysharp and spike seizures resolved over the right temporal lobe. Magnetic resonance imaging revealed a right temporal lobe ganglioglioma. Spitting seizures resolved after resection. Ictal expectoration is rare. It may occur with epigastric aura, nausea, chewing, swallowing and fumbling. Literature review disclosed 17 cases, 12 of which arose from the non-dominant hemisphere. Most regressed with surgery and anticonvulsants.
Seizure 1999 Dec
PMID:Ictus expectoratus: a sign of complex partial seizures usually of non-dominant temporal lobe origin. 1062 11

A 14-month-old girl presented after 3 days of fever, floppiness, and diffuse urticarial exanthem. She developed encephalitis and carditis and 1 week later, intractable seizures. Initial CT and MRI showed no changes in the brain parenchyma. On days 14 and 34 after the onset of symptoms, a human herpesvirus-6 (HHV-6) genome in cerebrospinal fluid was identified by polymerase chain reaction (PCR). Convulsions became more frequent and 11 weeks from the onset, they changed to typical infantile spasms with hypsarrhythmic electroencephalogram. She gradually lost her social contact and ability to walk and sit. Eleven months after the primary infection, a repeated MRI of the brain revealed a cystic tumour of 2 cm in diameter near the vermis. The tumour was surgically removed, and shown to be a pilocytic astrocytoma on histopathological examination. HHV-6 DNA was detected by PCR in new tumour tissue. This is the first reported case of HHV-6 encephalitis associated with carditis, infantile spasms, and a subsequent brain tumour containing the HHV-6 genome.
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PMID:Human herpesvirus-6 associated encephalitis with subsequent infantile spasms and cerebellar astrocytoma. 1087 30

The December 2002 COM. A 19-year-old healthy male fell into stagnant water of the intercostal waterway (salt water of South Florida), following a jet ski accident. He sustained minor superficial injuries but engulfed significant quantities of water and sediment. A few days later he developed bifrontal headaches, vomiting, a stiff neck and a temperature of 102 degrees F. A CT scan on admission without contrast was negative. The CSF had markedly elevated white count but bacterial and fungal cultures were negative. He became progressively lethargic. On the fifth day he developed seizure activity. He expired the next day despite antibiotics. Gross examination of the brain at autopsy revealed edema, cerebellar tonsillar herniation and purulent meningitis. Microscopic examination revealed a massive leptomeningeal inflammatory infiltrate composed of neutrophils, lymphocytes, and numerous histiocyte-like cells. The inflammatory infiltrate extended into the cerebral parenchyma in numerous areas also involving the cerebellum, brainstem and ventricular system. Given the exposure to stagnant water (later confirmed to be a man-made fresh water lake), and the numerous histiocytic-like cells, suspicion for an amebic etiology of the disease process was raised and the CDC identified the ameba as Naegleria Fowleri. Infection by Naegleria Fowleri, a free-living ameba, occurs after exposure to polluted water in man-made fresh water lakes, ponds, swimming pools, particularly during the warm weather months when the thermophilic ameba grows well. The pathologic substrate of the infection is an acute hemorrhagic, necrotizing meningo-encephalitis mainly at the base of the brain, brainstem and cerebellum occurring in young, healthy individuals.
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PMID:December 2002: 19-year old male with febrile illness after jet ski accident. 1274 79

Many sports, such as, gymnastics, diving, ski jumping, and figure skating, use judges' scores to determine the winner of a competition. These judges use some type of rating scale when judging performances (e.g., figure skating: 0.0 - 6.0). Sport governing bodies have the responsibility of setting and enforcing quality control parameters for judge performance. Given the judging scandals in figure skating at the 1998 and 2002 Olympics, judge performance in sport is receiving greater scrutiny. The purpose of this article is to illustrate how results from Rasch analyses can be used to provide in-depth feedback to judges about their scoring patterns. Nine judges' scores for 20 pairs of figure skaters who competed at the 2002 Winter Olympics were analyzed using a four-faceted (skater pair ability, skating aspect difficulty, program difficulty, and judge severity) Rasch rating scale model that was not common to all judges. Fit statistics, the logical ordering of skating aspects, skating programs, and separation indices all indicated a good fit of the data to the model. The type of feedback that can be given to judges about their scoring pattern was illustrated for one judge (USA) whose performance was flagged as being unpredictable. Feedback included a detailed description of how the rating scale was used; for example, 10% of all marks given by the American judge were unexpected by the model (Z > |2|). Three figures illustrated differences between the judge's observed and expected marks arranged according to the pairs' skating order and final placement in the competition. Scores which may represent "nationalistic bias" or a skating order influence were flagged by looking at these figures. If sport governing bodies wish to improve the performance of their judges, they need to employ methods that monitor the internal consistency of each judge as a many-facet Rasch analysis does.
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PMID:Evaluating judge performance in sport. 1475 90


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