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)

In vitro, both acrylamide and bis-acrylamide inhibited the activity of purified creatine kinase (CK) from the human brain with almost the same potency. The inhibition was dose-dependent and non-competitive. In vivo, however, only acrylamide caused the splay of hind limbs and an awkward gait in rats, and inhibited CK activity in the brain. The CK activity of the regions of the brain investigated differed, and these distributions were well matched with those of human cases. The inhibition became more marked as the administration of acrylamide was repeated. While the distribution of 14C in the different regions of the brain did not differ after the injection of [14C] acrylamide, the degree of the suppression of CK activity differed in these regions and was most marked in the hypothalamus. Fifty-two-week-old rats appeared more susceptible to acrylamide than 8-week-old rats. However, no difference in the inhibition of the CK activity in the brain was noted between the older and the young ones. The possible relation of the regional differences of CK suppression with the pathogenesis of acrylamide encephalopathy is discussed.
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PMID:[The suppression of CK activity in the brain by acrylamide]. 150 12

A prospective study in 76 newborn with perinatal asphyxia searching for myocardial ischemia was carried out. The disease was found in 51% of the patients. With electrocardiogram, myocardial enzymes, X ray and clinical manifestations the diagnosis was elaborated. No difference in the sex was present, the mean of gestational age was 35 weeks, and with mean birth weight 2,216 g, respiratory distress was present in all the people; only 20.5% developed heart failure and two had heart murmurs; 61.5% showed cardiomegaly. The creatine kinase MB isoenzyme at twelve hours after birth was raised in most of the patients. Respiratory distress syndrome was the principal diagnosis in 38%; hypoxic ischemic encephalopathy and peri-intraventricular hemorrhage was present in 50 and 33% of the patients, respectively. Mortality rate was 33%. Also a comparative study in the infants with and without myocardial ischemia was carried out appearing significative difference in: 1. Cardiomegaly, 2. Hypoxic-ischemic encephalopathy and 3. Creatine kinase MB isoenzyme.
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PMID:[Transient myocardial ischemia in newborn babies with perinatal asphyxia (hypoxic cardiomyopathy)]. 209 33

The concentration of creatine kinase BB isoenzyme (CK BB) was measured by radioimmunoassay in CSF from 306 patients with various neurologic disorders. Levels above 2.0 ng/mL were not found in patients without neurologic disease. Whereas mean CSF CK BB level was less than 2.0 ng/mL in groups of patients with systemic malignant neoplasms, latent syphilis, peripheral neuropathy, disk disease, polyradiculopathy, myelopathy, multiple sclerosis, neurodegenerative disease, encephalopathy, and hydrocephalus, it was elevated in groups of patients with convulsive disorder, CNS neoplasm, cerebrovascular disease, vasculitis, and meningoencephalitis.
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PMID:Creatine kinase BB isoenzyme in CSF in neurologic diseases. Measurement by radioimmunoassay. 683 Apr 58

Defects of the mitochondrial respiratory chain are associated with a great variety of clinical disorders. Whilst recognition of these conditions is increasing, the need for sophisticated biochemical and molecular studies has tended to limit both their investigation and diagnosis to a few specialist centres. Using a group of 51 patients with histochemically, biochemically and/or genetically defined respiratory chain defects, we have examined both the clinical heterogeneity of these disorders and how they may be investigated most effectively in non-specialist centres. We evaluated the use of the following routinely available clinical investigations--fasting intermediary metabolites (lactate, pyruvate, ketone bodies, etc.) in blood and cerebrospinal fluid, serum creatine kinase estimation, EMG, EEG, CT, MRI and histological/histochemical muscle biopsy analysis. Our studies show that, in addition to well-recognized syndromes (e.g. chronic progressive external ophthalmoplegia, mitochondrial encephalopathy lactic acidosis and stroke like episodes, and myoclonus epilepsy with ragged red-fibres, a significant number of patients present with non-specific encephalopathic disorders. Furthermore, even within those categories of respiratory chain disease which have been genetically defined, a wide variation of presenting symptoms and signs were found. Where there was initial doubt concerning the diagnosis, the following clinical features were helpful in suggesting respiratory chain disease: ophthalmoplegia; a maternal pattern of inheritance; the presence of myopathy or deafness in association with encephalopathy. Of the clinical investigations we assessed, elevated lactate in blood or cerebrospinal fluid and low density lesions in the basal ganglia were helpful in identifying patients with respiratory chain dysfunction. Histochemical analysis of muscle was, however, the single most useful investigation being diagnostic in patients with chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome and myopathy, and of significant importance in patients presenting primarily with central nervous system disease. The results of our study are used to discuss the most appropriate approach to diagnosis of this group of disorders.
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PMID:Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. 773 77

The purpose of this study was to report the clinical, cerebrospinal fluid (CSF), and histological data derived from a study of 34 cats with noninflammatory central nervous system (CNS) disease, and to report the activities of the enzymes lactate-dehydrogenase (LDH), aspartate transferase (AST), and creatine kinase (CK) in the CSF from 15 cats with a variety of CNS diseases. The cats were part of a study of 61 cats that were admitted to two university clinics because of signs of CNS disease. The most frequent noninflammatory diseases were neoplasia (n = 12) and ischemic encephalopathy (n = 4). The majority of cats with CNS neoplasia had a mild increase in CSF protein concentration (less than 1 g/L [100 mg/dL]), an increased percentage of neutrophils or lymphocytes, and a normal total white cell count. Cats with ischemic encephalopathy (IE) had a mild to moderate increase in CSF protein concentration (< or = 2 g/L [200 mg/dL]) and a mild increase in white cell count (< or = 10 cells/microL) with an increased percentage of lymphocytes. The enzymes LDH, AST, and CK in the CSF were not sensitive indicators of chronic CNS disease. The CSF differential cell count was frequently abnormal when the total white cell count was normal, and blood contamination in the CSF samples was a frequent problem that had to be considered in the interpretation of the results. The history, signalment, and clinical signs, when combined with the CSF findings, were valuable in the diagnosis of noninflammatory CNS disease.
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PMID:Clinical, cerebrospinal fluid, and histological data from thirty-four cats with primary noninflammatory disease of the central nervous system. 805 33

Two previously healthy women are described who in their late thirties suffered transient strokelike episodes, consisting of initial headache and vomiting, with various subsequent neurological signs that were only partially reversible. Investigations revealed elevated serum creatine kinase, lactic acidosis, hypertriglyceridaemia, and ragged red fibres in the muscle biopsy specimens. In both patients in vitro studies were performed on intact muscle mitochondria and muscle homogenate. Only in one was a mitochondrial defect found, located at the level of coenzyme Q. We conclude that these patients suffered from adult-onset mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS syndrome). Although the syndrome is often associated with long-standing neurological multisystem disease from childhood onwards, it should also be suspected in adults with strokelike signs of otherwise unexplained origin.
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PMID:Mitochondrial encephalomyopathy, lactic acidosis and stroke in adults: two cases. 849 10

A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.
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PMID:Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. 828 68

Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor milestones, proximal weakness, premature exertional fatigue, and episodes of exercise-induced pigmenturia. She also developed partial-complex seizures. Serum creatine kinase was approximately four times the upper limit of normal and venous lactate was mildly elevated. Skeletal muscle biopsy revealed many ragged-red fibers, cytochrome c oxidase-deficient fibers, and excess lipid. In isolated muscle mitochondria, impaired oxygen consumption was corrected by the addition of decylubiquinone. During standardized exercise, ventilatory and circulatory responses were compatible with a defect of oxidation-phosphorylation, which was confirmed by near-infrared spectroscopy analysis. Biochemical analysis of muscle extracts revealed decreased activities of complexes I+II and I+III, while CoQ10 concentration was less than 25% of normal. With a brief course of CoQ10 (150 mg daily), the patient reported subjective improvement. The triad of CNS involvement, recurrent myoglobinuria, and ragged-red fibers should alert clinicians to the possibility of CoQ10 deficiency.
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PMID:Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. 915 50

1H magnetic resonance spectroscopy (MRS) of the brain and (31)P MRS and saturation transfer of resting skeletal muscle were used to investigate intracellular metabolites and fluxes through the creatine kinase (CK) reaction in a patient with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Acute cortical lesions were characterized by severely elevated lactate levels and reduced concentrations of N-acetylaspartyl compounds, glutamate, and myo-inositol. Similar but less extreme alterations were also observed in gray matter regions that appeared normal on magnetic resonance images. Investigation of the gastrocnemius muscle at rest demonstrated a reduced phosphocreatine level, elevated concentrations of inorganic phosphate and free adenosine 5'-diphosphate, and an abnormally low phosphorylation potential. Besides a moderately increased muscular phosphocreatine concentration, none of the metabolic disturbances detected on MRS improved with oral creatine supplementation. Forward and reverse fluxes through the CK reaction did not significantly change upon creatine treatment. Follow-up MRS investigations may thus provide objective markers of treatment response in vivo without the hazards or inconvenience of biopsy.
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PMID:Application of NMR spectroscopy to monitoring MELAS treatment: a case report. 1193 78

Brain-specific proteins have been used to detect cerebral injury after birth asphyxia. Previous investigations suggest that serum protein S-100beta, brain-specific creatine kinase (CK-BB), and neuron-specific enolase (NSE) are capable of identifying patients with a risk of developing hypoxic-ischemic encephalopathy. Whether detection of elevated serum concentrations of these proteins reflects long-term neurodevelopmental impairment remains to be investigated. We examined serum protein S-100beta, NSE, and CK-BB at 2, 6, 12, and 24 h after birth in 29 asphyxiated infants and 20 control infants. Neurodevelopmental follow-up examinations were performed at 20 mo of age using the German revision of the Griffiths scales for developmental assessment. Elevated concentrations of serum protein S-100beta, NSE, and CK-BB within 24 h after asphyxia did not correlate with long-term neurodevelopmental delay. We conclude that serum protein S-100beta, NSE, and CK-BB, sampled on the first day of life, is of limited value in predicting severe brain damage after birth asphyxia.
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PMID:Predictive value of brain-specific proteins in serum for neurodevelopmental outcome after birth asphyxia. 1273 85


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