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)

The survival and clonogenic growth (measured in terms of colony forming efficiency (CFE) of intravenously injected (i.v.) Walker (W256) tumour cells in the lungs of rats was greatly enhanced by states of topical and systemic stress induced by the intraperitoneal (i.p.) injection of rats with a single dose of 10(-5)-10(-3) mmol g-1 body weight of adrenaline and other beta-adrenergic agonists, inflammatory agents (including local x-irradiation), convulsive seizures, "tumbling" or physical restraint. Lowering of innate resistance of the host to growth of seeded tumour cells induced by states of topical and systemic stress, and by the addition of an excess of lethally irradiated (LI) tumour cells to i.v. injected intact tumour cells, were all potentiated by treatment of rats with aminophylline, an inhibitor of cyclic AMP phosphodiesterase. Enhancement of tumour growth by systemic stress was inhibited by bilateral total or medullary adrenalectomy and is attributed to the release and actions of endogenous adreno-medullary hormones. Alpha-adrenergic and most non-adrenergic agents administered in maximum tolerated doses did not significantly affect host resistance to tumour growth in the lungs. These findings, correlated with measurements of cyclic AMP in the lungs of normal and stressed rats, suggest that changes in the resistance of the host to tumour growth involve changes in cyclic nucleotide metabolism in the target tissues (tumour bed); possible mechanisms of action of cyclic nucleotides in this respect are discussed.
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PMID:Lowering of innate resistance of the lungs to the growth of blood-borne cancer cells in states of topical and systemic stress. 17 20

The Authors report their case material concerning some basic items of the dysraphic pathology of the Posterior Fossa: 22 cases of Dandy Walker syndromes (DWS) and "Arachnoid Cysts" (PFC). The mean clinical findings (predominant involvement of the vestibular structures of the brain stem in the DWS, frequent epileptic seizures and some cases of hypothalamic disturbances in the PFC) are discussed in the light of current embryological theories on Weed's "area membranacea". Finally the results of differential surgical treatments are examined: good or satisfactory results were obtained with shunts, while still debatable seems to be the direct surgical approach.
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PMID:The dysraphic state of the posterior fossa. Clinical review of the Dandy-Walker syndrome and the so-called arachnoid cysts. 53 50

We report the case of an infant with facial dysmorphism, congenital hydrocephalus, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS). Investigations included a cerebral CT scan indicative of type II lissencephaly and a muscular biopsy which showed findings of muscular dystrophy. The association of hypotonia, developmental delay and seizures with a neuronal migration disturbance and retinal involvement raised the suspicion of a peroxisomal disorder. The pertinent biochemical investigations, however, were negative. The features of this syndrome are reviewed, emphasizing the similarities with other related disorders as cerebro-oculo-muscular syndrome. We suggest that muscle involvement should be investigated in every case of WWS.
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PMID:[Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy]. 261 34

The case of one 23 year-old girl who had epileptic manifestations is reported. At first, generalized tonic seizures; afterwards, epileptic seizures precipitated by eating. The electroencephalograms showed left temporal lobe dysfunctions. Different types of drugs were used with no success. The best results were obtained by association of sodium valproate, clonazepam and phenobarbital. Comments are made about clinic and etiopathogenesis, believing the authors in the hypothesis of nervous structures chronic hyperactivity. To Walker the hyperactivity was reached by hormones production under neural control of specific cerebral centers. The continuous bombardment of epileptic discharges to hypothalamic centers is the probably responsible by epileptic seizures precipitated by eating.
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PMID:[Epileptic crisis induced by food intake: report of a case]. 725 85

Success in epilepsy surgery depends upon the exact localization of epileptogenic lesion identified by recordings of scalp and/or intracranial EEG and observation of clinical seizures in addition to the neuroimaging techniques such as CT, MRI, SPECT, PET. Thinking of the postoperative outcome in the literatures regarding epileptic seizures according to surgical procedure, main candidates for surgery are patients with intractable symptomatic localization-related epilepsies. Walker's criteria (1974) are generally agreed as selection criteria of candidate for epilepsy surgery. In our hospital, candidates for temporal lobe resection are selected according to the following criteria: 1) presence of an epileptogenic region presumably within the temporal lobe, 2) appropriate drug treatment for at least 5 years, 3) complex partial seizures more frequently than once a week, 4) adolescent or adult patients over 15 years of age with no persistent psychiatric symptoms, and 5) patients capable of social rehabilitation if recurrent seizures subside. Presurgical evaluation consists of noninvasive and invasive evaluation. Noninvasive evaluation includes neuro-psychological tests including Wada test, neuroimagings, interictal and ictal long-term intensive EEG/CCTV monitoring by the scalp EEG using 10/20 electrode placement as well as sphenoidal electrode to catch at least 3 spontaneous seizures. Invasive evaluation is interictal and ictal long-term intensive EEG/CCTV monitoring by intracranial electrodes for two weeks. The presurgical evaluation is performed by the team composed of neurosurgeon, neurologist, neuropsychiatrist, and neuropediatrician to decide the localization of epileptogenic lesions for resection. Outcome concerning seizure, neuropsychological aspects, and QOL is followed for more than 3 years after operation. Surgery for epilepsy should not be done without strict presurgical evaluation.
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PMID:[Surgery for intractable epilepsy--selection and presurgical evaluation]. 875 95

The Walker-Warburg syndrome (WWS) is an autosomal recessive disease entity within the framework of "cerebro-ocular-muscular syndromes". The gene locus is still undetected. Its diagnostic criteria have been firmly established in the literature on newborns or infants affected with the disease. However, a diagnosis of severe pathologic conditions must often be made on the basis of ultrasound examination at a fetal age. It is therefore necessary to examined whether the diagnostic criteria are sufficient to warrant a diagnosis at the fetal stage. We here report on a new family affected with WWS. Two elder siblings had presented with epileptic seizures, eye abnormalities as well as multiple skeletal dysplasias (the latter finding in the first child only) in the neonatal period, and died in their first years. Postmortem examination of the second child revealed type II lissencephaly, buphthalmos, and undifferentiated retina with rigid retinal folds. Skeletal muscle tissue was not examined. In a sibling fetus, bilateral cataract was detected in the 17th gestational week by ultrasonographic examination. Postmortem examination in the 23rd gestational week revealed type II lissencephaly and bilateral cataract. Skeletal muscle was normal. Taken together, all siblings were diagnosed as Walker-Warburg syndrome. In the fetal case, prenatal diagnosis could only be made with confidence against a background of a positive family history.
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PMID:Three siblings with Walker-Warburg Syndrome. 878 Sep 38

We report a two-year-old Caucasian boy who had neonatal seizures and was found to have bilateral occipito-temporal polymicrogyria on neonatal brain MRI. The child had no additional neurological abnormality other than the neonatal seizures, but serum CK was found to be elevated (5 - 7 times normal values) and the muscle biopsy showed evidence of early muscular dystrophy. Detailed protein and genetic studies did not allow the identification of a known form of muscular dystrophy. The boy has been followed regularly and he currently has mild global developmental delay but no clinical signs of muscle involvement. The association of polymicrogyria and muscular dystrophy is known to occur in Fukuyama and Walker Warburg muscular dystrophies, in muscle-eye-brain disease and in some patients with merosin deficient CMD. However the absence of weakness and of eye involvement, the normal expression of merosin and alpha dystroglycan and the pattern of brain involvement make it very unlikely that the child is affected by one of these forms. As the pattern of brain involvement and the muscle pathology is not typical of one of the forms of neuronal migration disorders secondary to a known gene defect, we suspect that the combination of muscle and brain involvement found in this child is not coincidental. Our findings suggest that serum CK should be determined in children with undiagnosed polymicrogyria, even in the absence of weakness. This may lead to an expansion of our understanding of muscle dystrophies and cortical dysplasias.
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PMID:Occipito-temporal polymicrogyria and subclinical muscular dystrophy. 1277 31

A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The child was treated with supportive measures.
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PMID:Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant. 1458 42

Electroencephalography is an essential clinical tool for the evaluation and treatment of neurophysiologic disorders related to epilepsy. Careful analyses of the electroencephalograph (EEG) records can provide valuable insight and improved understanding of the mechanisms causing epileptic disorders. The detection of epileptiform discharges in the EEG is an important element in the diagnosis of epilepsy. In this study, EEG signals recorded from 30 subjects were processed using autoregressive (AR) method and EEG power spectra were obtained. The parameters of autoregressive method were estimated by different methods such as Yule-Walker, covariance, modified covariance, Burg, least squares, and maximum likelihood estimation (MLE). EEG spectra were then used to analyze and characterize epileptiform discharges in the form of 3-Hz spike and wave complexes in patients with absence seizures. The variations in the shape of the EEG power spectra were examined in order to obtain medical information. These power spectra were then used to compare the applied methods in terms of their frequency resolution and determination of epileptic seizure. The Cramer-Rao bounds (CRB) were derived for the estimated AR parameters of the EEG signals and the performance evaluation of the estimation methods was performed using the CRB values. Finally, the optimal AR spectral estimation method for the EEG signals was selected according to the computed CRB values. According to the computed CRB values, the performance characteristics of the MLE AR method was found extremely valuable in EEG signal analysis.
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PMID:Selection of optimal AR spectral estimation method for EEG signals using Cramer-Rao bound. 1647 21

Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. WWS presents at birth with generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures. It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities and congenital muscular dystrophy characterized by hypoglycosylation of alpha-dystroglycan. Several genes have been implicated in the etiology of WWS, and others are as yet unknown. Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes. Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered alpha-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. No specific treatment is available. Management is only supportive and preventive.
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PMID:Walker-Warburg syndrome. 1688 26


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