Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The levels of hormones of hypothalamo-hypophyseal-adrenal system were measured in 14 10-14 year old children with infantile cerebral paralysis (ICP) with central catecholaminergic motor insufficiency. Contents of adrenocorticotropic hormone (ACTH), hydrocortisone (HC), somatotropic hormone, prolactin (P) were examined before and during Nacome administration (62.5 mg once daily in the morning). 110 patients of the same age with ICP and 18 children with acquired encephalopathy (EP) formed the control group. The elevations of ACTH, HC and P were revealed in spastic forms of ICP. Meanwhile nearly normal hormonal levels were observed in hyperkinetic forms of ICP and EP. The more pronounced effect was noted in "dopamine-dependent" children in which the drug's administration resulted in normalization of clinical and biochemical indices. Hyperkinetic phenomena revealed the connection between the character of neuromotor dyskinesias and the state of hypothalamo-hypophyseal-adrenal axis which is regulated by dopamine. The data obtained show hypofunction of dopaminergic neurotransmitter cerebral systems in patients with ICP that plays important pathogenetic role in development of disease with systemic manifestations.
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PMID:[The effect of low doses of nakom on the hormonal secretion of the hypothalamo-hypophyseal-adrenal system in patients with infantile cerebral palsy]. 928 Dec 79

The diagnosis and treatment of a first epileptic seizure are made by physicians with different types of expertise. Heterogeneous patterns of care are thus expected, which explain the need for shared patterns of care. These guidelines were developed by a group of experts from the Italian League against Epilepsy (LICE) in accordance with the requirements of evidence-based medicine. An accurate assessment of the seizure is required, with active questioning about circumstances of occurrence, clinical manifestations, and postictal symptoms. For seizures with loss of consciousness, the presence of cyanosis, hypersalivation, tongue biting, and postictal disorientation has a specific diagnostic value. Laboratory tests and toxicological screening should be performed only in the presence of circumstances suggesting a metabolic or toxic encephalopathy. Elevated prolactin levels 10-20 min. after the event help in differentiating generalized tonic-clonic or partial seizures from psychogenic nonepileptic seizures. Except for infants less than six months of age, CSF examination is recommended only when a cerebral infection is suspected. An EEG should be performed within 24 h. after a seizure, particularly in children. If the EEG is normal during wakefulness, a sleep EEG is recommended. A CT scan is strictly indicated when a severe structural lesion is suspected or when the etiology is unknown. MRI may not be indicated in the emergency room, but it should be preferred to CT as part of the diagnostic assessment. The added value of other diagnostic tools (neuropsychological tests, ambulatory EEG, functional MRI, SPECT, and PET) is as yet unknown. These tests may be used on a case-by-case basis. In the presence of an acute symptomatic seizure, treatment of the cause is recommended. Symptomatic therapy is not justified unless the seizure has the characteristics of status epilepticus. Long-term treatment may be considered in patients with abnormal EEG and imaging data and after consideration of the social, emotional, and personal implications of seizure relapse.
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PMID:Diagnosis and treatment of the first epileptic seizure: guidelines of the Italian League against Epilepsy. 1723 98

Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive disorder mapped to chromosome 11p15.5. Its clinical expression varies with presentations as dopa-responsive dystonia (recessive Segawa's disease), dopa-responsive infantile parkinsonism, dopa-responsive spastic paraplegia, progressive infantile encephalopathy or dopa-non-responsive dystonia. We describe a 7-year-old boy with progressive infantile encephalopathy and non-responsiveness to dopamine. The patient demonstrated generalized hypotonia, pyramidal tract dysfunction and temperature instability after the second month of life. Dystonia, tremor and oculogyric crises complicated the clinical picture during the following months. Neurotransmitter analysis in CSF disclosed almost undetectable levels of HVA and MHPG, whereas serum prolactin was profoundly increased. Subsequent molecular analysis revealed homozygosity for a missense mutation (c.707T>C) in the TH gene. l-Dopa therapy in both high and low doses resulted in massive hyperkinesias, while substitution with selegiline exerted only a mild beneficial effect. Today, at the age of 7 years, the patient demonstrates severe developmental retardation with marked trunkal hypotonia, hypokinesia and occasionally dystonic and/or hyperkinetic crises. He is the third Greek patient with TH deficiency to be reported. Since all three patients carry the same pathogenetic mutation, a founder effect is suspected.
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PMID:Tyrosine hydroxylase deficiency with severe clinical course. 1928 9

We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor development, paroxysmal dystonic postures and movements of limbs, hypokinesia) due to tyrosine hydroxylase deficiency. High blood prolactin and low homovanillic acid in cerebrospinal fluid suggested the diagnosis. Genetic analysis revealed 3 new missense mutations on tyrosine hydroxylase gene: [c.752C>T(p.P251L) and c.887G>A(p.R296Q] harbored by the father and c.836G>T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q.
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PMID:A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 2194 Jun 85


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