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)

Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the most common presenting complaint; 15 patients came to medical attention in the first 48 hours of life because of cyanosis, cardiac murmurs, or tachycardia and tachypnea. Two unusual anomalies, interrupted aortic arch or truncus arteriosus, were seen in 17 patients. Clinically documented hypocalcemia associated with seizures was seen in ten patients, with a median age at onset of eight days. Fifteen of our 25 patients died at less than one month of age. Most of the patients surviving the first month of life developed purulent rhinitis, maculopapular rashes, failure to thrive, and developmental delay. Sixteen patients had major congenital anomalies not localized to the anterior neck and thorax; these anomalies included arhinencephaly, cleft lip, palate, or uvula, diaphragmatic abnormalities, hydronephrosis, malrotation of the gut and imperforate anus. The 24 autopsied cases constitute 0.7% of the 3,469 sequential postmortem studies done in the period 1950--1975 at The Children's Orthopedic Hospital and Medical Center.
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PMID:The spectrum of the DiGeorge syndrome. 44 29

Reye's syndrome in infancy is not a well-defined entity and is infrequently diagnosed. Eight infants 6 months of age or younger had a prodromal viral illness followed by the rapid onset of lethargy, seizures, and coma, resulting in the diagnosis of Reye's syndrome. All had abnormal results of liver function tests including elevations of blood ammonia level. Three patients had pathological studies that confirmed fatty visceral infiltration. The data on these patients, as well as a review of the literature, indicate that the most prominent clinical findings in Reye's syndrome in infancy include marked respiratory abnormalities with tachypnea and apneic episodes; frequent occurrence of seizures in the early stages of the illness; and hypoglycemia in most cases. A strong socioeconomic bias was noted in these patients, with the infants coming primarily from lower socioeconomic, urban environments, while older children with Reye's syndrome have been observed to be predominantly middle-class and from suburban or rural areas.
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PMID:Reye's syndrome in infancy. 68 88

A case of poisoning with tobacco smoke was observed in a child aged two years exposed to this smoke. The child had COHb concentration 18%, pallor, tachycardia, tachypnoea, raised blood pressure, tonic seizures and loss of consciousness.
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PMID:[Passive smoking as the cause of life-threatening intoxication in a child]. 129 53

Deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase has been studied in 11 Saudi infants. The diagnosis was established by the measurement of enzyme activity in lymphocytes, in fibroblasts and, in seven patients, by the gas chromatography/mass spectrometer pattern of excreted organic acids in the urine. In seven infants the disease caused a devastating acidotic attack within the first day of life, while in two the crisis occurred by the third day of life. In two infants from one family the disease appeared later in infancy. The clinical presentation of an acidotic attack is lethargy, hyperpnoea, tachypnoea and seizures, either at birth (two infants), following first feeding (in five infants), or following vomiting or refusal of food in later infancy. The acidotic attacks recurred later in life following minor illness or refusal to eat. The acidosis of this enzyme deficiency progresses rapidly, leading to cardiopulmonary arrest and death within hours of onset unless treated promptly. In four surviving infants diagnosed and treated early, development is normal. Magnetic resonance and computerized tomography brain scans in these infants, however, show white matter lesions and mild atrophy.
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PMID:3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. 188 3

We studied the effects on breathing of seizures induced by focal injection of penicillin G into the parietal cortex in 13 anesthetized cats. Electrocorticograms, ventilation, end-tidal PCO2, and intrapleural and arterial pressures were monitored; changes of these variables were related to the stages of motor seizure. The first respiratory responses, tachypnea and hyperpnea, usually occurred before any peripheral muscular contractions developed. Progression of the seizure was always accompanied by further tachypnea and hyperpnea. The hyperpnea associated with all stages of seizure activity resulted in hypocapnia, which was sustained even during prolonged tonic-clonic motor convulsions that caused a threefold increase of metabolic rate. The extreme tachypnea of tonic generalized convulsions led to increased end-expiratory lung volume because of dynamic hyperinflation associated with very short expiratory durations in the tonic phase. We suggest that the profound effects of seizures on respiration are by feedforward mechanisms from the cortical focus itself and from subcortical circuits, such as hypothalamus, that become involved during seizure propagation and generalization. Peripheral respiratory feedback mechanisms are not important for the genesis of seizure-induced hyperpnea.
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PMID:Respiratory responses to focal and generalized seizures in cats. 203 5

We performed a 5-year review of 40 patients less than or equal to 30 days of age with viral pneumonia. Isolates included respiratory syncytial virus (55%), enteroviruses (15%), rhinoviruses (15%), adenoviruses (10%), parainfluenza virus (7.5%) and herpes simplex virus (5%). Most infants were previously healthy but had ill family members. Nine were born at less than 37 weeks of gestation. Symptoms and signs included tachypnea, decreased feeding, cough, cyanosis, lethargy, retractions, apnea, bradycardia, seizures and depressed consciousness. Seasonality and clinical features, but not radiographic patterns, suggested specific pathogens. Patients were moderately to severely ill. The median duration of hospitalization was 7 days; therapies administered included oxygen (90%), mechanical ventilation (45%), blood transfusions (25%) and supplemental oxygen after discharge (27%). The case fatality rate was 7.5%. Prematurity, ill appearance at presentation, lobar consolidation and adenovirus infection were risk factors for severe disease.
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PMID:Viral pneumonia in the first month of life. 217 40

Margosa Oil is an extract of the seed of the Neem tree and is widely used as a traditional medicine by Indians in India, Sri Lanka, Burma, Thailand, Malaysia and Indonesia. Used mainly for external applications, it is often administered orally to neonates and infants regularly in small amounts. Margosa Oil causes toxic encephalopathy particularly in infants and young children. The usual features are vomiting, drowsiness, tachypnea and recurrent generalised seizures. Leucocytosis and metabolic acidosis are significant laboratory findings. Management is aimed primarily towards the control of convulsions although supportive management is equally important. Prognosis is usually good but fatalities and neurological deficits have been reported. We report here two infants with Margosa Oil poisoning presenting with encephalopathy.
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PMID:Margosa oil poisoning as a cause of toxic encephalopathy. 225 44

We studied neonates with hyperosmolar syndrome using photo-evoked eyelid microvibration, a blink reflex elicited by photic stimuli. Patients with hyperosmolality showed disturbance of consciousness, convulsive seizures, hyperexcitability, and tachypnea. The latency of photo-evoked eyelid microvibration tended to be prolonged with an elevation of the plasma osmolality. Photo-evoked eyelid microvibration is believed to be a suitable method for monitoring brain disturbance due to hyperosmolality.
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PMID:Photo-evoked eyelid microvibration in neonates with hyperosmolality. 239 34

Dogs were made dependent on p.o. administered diazepam (24 or 36 mg/kg/day) or nordiazepam (18 mg/kg/day). Flumazenil (2, 6 or 18 mg/kg) administered p.o. once a week according to a Latin Square design precipitated abstinence in both groups of dogs. Abstinence was evaluated using a Nordiazepam Precipitated Abstinence Scale (NPAS) of various signs of abstinence and by counting seizure episodes. Flumazenil caused dose-related increases in the NPAS scores of both diazepam- and nordiazepam-dependent dogs; the slopes of the two dose-response lines were not different. Both groups of dogs also had both clonic and tonic-clonic seizures after flumazenil administration. CGS-8216 (2, 6 or 18 mg/kg) administered p.o. did not cause a dose-related elevation in NPAS scores for either group of dogs but clonic and tonic-clonic seizures were seen. Thus, flumazenil precipitates the benzodiazepine abstinence syndrome, as evidenced by tremors, tachypnea and other signs, including seizures, whereas CGS-8216 may have some selectivity in precipitating seizures without other signs of abstinence.
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PMID:Precipitation of abstinence in nordiazepam- and diazepam-dependent dogs. 312 50

Photosensitivity was acquired as a result of kindling in the lateral geniculate body (GL), and the GL-kindled cat pretreated with DL-allylglycine showed a stable level of photosensitivity. To test the usefulness as a model for the evaluation of anticonvulsant drugs, the effects of phenobarbital (PB) and phenytoin (PHT) on photosensitivity were studied in the GL-kindled cat under DL-allylglycine. PB (5 and 10 mg/kg intravenously, i.v.) completely suppressed photically induced seizures in most subjects at plasma concentrations of 7-16 micrograms/ml, and this anticonvulsant action persisted for at least 4 h after the injection. PHT (15 mg/kg, i.v.) at plasma concentrations of 9-15 micrograms/ml produced toxic signs, e.g., pupil dilatation, hypersalivation, and tachypnea. At this dose, PHT was inactive against photically induced myoclonus but prevented the elicitation of a generalized tonic-clonic convulsion. From these results showing that the effects of anticonvulsant drugs on photically induced seizures can be assessed in relation to plasma concentration and acute neurologic toxicity, we suggest that the GL-kindled cat is a potentially useful animal model of epilepsy for testing the efficacy of anticonvulsant drugs.
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PMID:A new experimental model for drug studies: effects of phenobarbital and phenytoin on photosensitivity in the lateral geniculate-kindled cat. 369 16


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