Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A cDNA library was prepared from rabbit brain mRNA, in the expression vector, lambda gt11. The library was screened with polyclonal antibodies raised against the neurofilament protein NF-H, and a cloned cDNA (KMRH-1) was selected and characterized. The fusion protein coded for by KMRH-1 includes epitopes for two monoclonal antibodies which react with nonphosphorylated sites in the tail region of NF-H. The selected cDNA includes 891 base pairs. It hybridizes to human genomic DNA, as well as to rabbit genomic DNA, and to a rabbit brain mRNA with a size of 4.7 kilobases (kb). The sequence of KMRH-1 includes extensive repeating regions, including one duplicated 60-base segment. Within the first 196 bases, one 13-base segment is repeated 9 times. The cDNA codes for the carboxy-terminal 184 amino acid residues of NF-H, including a series of 9 serines, each surrounded by a similar group of amino acids: ..Ala.Lys.Ser.Pro.(Glu./Val.).Lys.. Comparison of the derived amino acid sequence for KMRH-1 indicates considerable divergence from the sequence information available for rodent NF-H (Robinson et al.: FEBS Lett 209:203-205, 1986). This diversity in amino acid sequence may account for the failure to induce tangles of neurofilaments in animals, such as rats, following treatment with doses of aluminum which are sufficient to induce such tangles in rabbits and to bring on seizures and behavioral pathology in both species.
 ...
PMID:cDNA coding for the tail region of the high molecular weight rabbit neurofilament protein NF-H. 313 32

A retrospective clinical and pathological analysis has been performed of 24 cases of herpes simplex virus encephalitis (HSE) seen at the Institute of Neurological Sciences, Glasgow, between 1972 and 1985. All patients had been diagnosed on the basis of isolation of herpes simplex virus (HSV) from, and/or the demonstration of characteristic histological changes of acute necrotizing encephalitis (ANE) in brain biopsy and/or autopsy tissue. Clinical presentation on admission included a prodromal influenza-like illness (46%), sudden onset of headache and confusion (54%), meningism (38%), deep coma (42%), aphasia (54%) and focal neurological signs (79%). Seizures occurred in 46% of cases during the course of the illness. Of the 24 cases, 14 (58%) died and 10 (42%) survived. Intravenous acyclovir treatment was associated with the best prognosis. Cerebral biopsy of one temporal lobe was performed in 22 cases and in 19 of these a positive histological diagnosis of HSE could be made. HSV was isolated from 15 of the 19 (79%) biopsied cases in whom virus isolation was attempted. Only seven out of the 15 cases (47%) in which immunofluorescence assays for HSV antigens were performed were unequivocally positive. Herpes simplex virus was isolated in culture from all cases which were negative by immunofluorescence. Immunocytochemical analysis on tissue sections of five representative brain biopsies demonstrated the presence of HSV antigens in some astrocytes, neurons and macrophages especially within areas of inflammatory infiltration. In situ hybridization experiments with a cloned HSV DNA probe demonstrated viral RNA in astrocytes, neurons and macrophages in two human biopsies and mouse brains in areas broadly corresponding to the distribution of viral antigen labelling. The combined immunocytochemical and in situ hybridization procedure showed that many but not all of the cells containing viral RNA also contained HSV antigens, indicating a productive infection in these double-labelled cells.
 ...
PMID:A clinico-pathological study of herpes simplex encephalitis. 320 Mar 68

To determine the prevalence of anticardiolipin antibodies (aCL) in pediatric systemic lupus erythematosus (SLE) and their possible association with clinical manifestations, aCL were measured in sera of 32 patients with the onset of SLE before age 16. IgM and IgG aCL were determined by ELISA and values compared to those of 12 patients with juvenile rheumatoid arthritis (JRA), 15 age matched asthmatics, and 32 adult controls. aCL were demonstrated in sera of 16 of 32 (50%) children with SLE, 5 of 12 (42%) patients with JRA, 1 of 15 (7%) asthmatics, and in none of the 32 adult controls. Serial samples on 11 patients with SLE showed fluctuations in aCL levels that often corresponded to disease activity; the highest levels occurred in patients during periods of seizure activity and other neurologic events. The antibodies were not crossreactive anti-DNA antibodies as shown by the failure of DNA to inhibit binding to cardiolipin. These data suggest that the prevalence of aCL is similar in pediatric and adult SLE and that aCL levels may vary with disease activity, especially neurologic disease.
 ...
PMID:The relationship of anticardiolipin antibodies to disease manifestations in pediatric systemic lupus erythematosus. 326 38

Possible targets of quinolone toxicity include the juvenile joint, the kidney, the central nervous system (CNS), the eye, and the cardiovascular system. In immature animals all quinolones studied cause arthropathies of the major diarthrodial joints. Arthropathies have also developed in adult dogs after 12 months of pefloxacin treatment. At high doses the quinolones exert effects on renal function that are related to a foreign-body reaction caused by crystals; nephropathologic changes seem not to occur without crystalluria. In humans quinolones can have various CNS effects. The subcellular "substrate" for these effects is unknown. Further understanding of severe CNS reactions (confusion, hallucination, anxiety, agitation, nightmares, convulsive seizures, and depression) is needed. Pefloxacin causes cataracts in dogs after treatment for 8-12 months. Low-dose quinolones (administered as an intravenous bolus) cause pronounced but transient systolic hypotension in dogs and cats; cardiovascular effects may be mediated by histamine release. Quinolones inhibit the bacterial enzyme DNA gyrase. To exclude the possibility of damage to mammalian DNA, mutagenicity studies have been performed. Since all but two tests (which may give false-positive results) have been negative, quinolones appear to be nonmutagenic. Photosensitivity has occurred in humans given quinolones. Drug interactions can be clinically important.
 ...
PMID:Specific toxicologic aspects of the quinolones. 327 89

Seven hundred five cases of agenesis of the corpus callosum (ACC) are reviewed from the literature (n = 660) and from our own observations (n = 45). The diagnosis was made or confirmed using neuroradiological techniques (n = 519) and necropsy or surgery (n = 231). Association with abnormalities often of chromosomes 8, 11, 13-15 and 18 suggests their involvement in abnormal corpus callosum (CC) morphogenesis. Four syndromes (e.g. Aicardi, acrocallosal, Andermann and Shapiro) are characterized by ACC, while others are only sporadically associated (e.g. fetal alcohol syndrome, Dandy-Walker syndrome, Leigh disease, Arnold-Chiari II syndrome). In non-Aicardi patients, the male-to-female ratio was 3:2 and X-linked recessive inheritance is postulated to play a role in some cases. Common abnormalities in acallosal patients included: mental retardation (MR), 73% [corrected]; seizures, 42%; ocular anomalies, 42%; gyral abnormalities, 32%; hydrocephalus, 23%; other central nervous system (CNS) lesions, 29%; costovertebral defects, 24%. Developmental disabilities are not attributable to absence of the CC per se, but due to other CNS malformation or dysfunction, which may be genetic or non-genetic. Future research using recombinant DNA techniques will enable isolation and identification of specific chromosomal defects in those cases with a genetic abnormality.
 ...
PMID:Clinicopathological findings associated with agenesis of the corpus callosum. 331 Jul 13

Alpha-2 interferon, produced in Escherichia coli using recombinant DNA techniques, was administered to 17 children with refractory acute lymphoblastic leukemia (ALL) in relapse, two children with TdT-positive, Philadelphia chromosome-positive chronic myelocytic leukemia (CML) in blast crisis, and one child with B cell (SIg+) non-Hodgkin's lymphoma (NHL) in a second extramedullary relapse. An initial 2-week intravenous (IV) phase of interferon was followed by a 3-month subcutaneous (SC) maintenance phase if patients had an objective response or disease stabilization without significant bleeding or infectious complications. When interferon dosages were escalated from 3 to 100 X 10(6) U/m2 in the first phase of therapy, there was rapid progression of disease in the first four patients treated, prompting a modification of the treatment plan. The last 16 patients enrolled received fixed dosages of interferon (ie, 10, 20, 30, and 50 X 10(6) U/m2 administered to four subjects each). One child with T cell ALL had an 11-month complete remission; the patient with lymphoma had a dramatic but brief response; three others (one CML and two ALL) showed disease stabilization for 3 to 6 months with a definite oncolytic effect in two of the three patients. The remaining 15 patients had progressive disease within 2 months and were removed from the study. Acute toxicity included a flu-like syndrome in all patients, increased serum transaminase levels in five, seizures in three (two cases temporally related to fever and one to a thrombocytopenic subarachnoid hemorrhage), and prolonged activated partial thromboplastin times in seven. This phase I-II trial of recombinant alpha-2 interferon demonstrated definite activity without dose-limiting toxicity.
 ...
PMID:Phase I-II study of recombinant alpha-2 interferon against advanced leukemia and lymphoma in children. 345 76

Quantitative determination of IgG and IgM antibodies to cardiolipin (anti-CL) was performed with a newly developed sensitive and specific ELISA method. We studied a cohort of 361 unselected patients with various autoimmune rheumatic diseases (ARD), 69 patients with thromboembolic phenomena (TEP) unassociated with ARD, and 267 healthy blood donors (HBD). Anti-CL of at least one immunoglobulin class were found in 42 (11.6%) of the ARD patients, in 3 (4.3%) of the TEP patients (2 with myocardial infarction and 1 with pulmonary emboli), and in 6 (2.3%) of the HBD. In ARD patients anti-CL were more prevalent in patients with systemic lupus erythematosus (SLE) and overlap syndromes. Significant correlations included CNS involvement (particularly seizures) and features of immune hyperreactivity (splenomegaly-lymphadenopathy, ANA, and antibodies to Ro(SSA), U1-nRNP, and double-stranded DNA). No statistical correlation could be demonstrated between the presence of anti-CL and thrombotic events, hematologic disorders, or recurrent abortions in the ARD patients.
 ...
PMID:Anticardiolipin antibodies in unselected autoimmune rheumatic disease patients. 349 46

There is ample evidence for genetic and other heterogeneity in the mechanisms leading to epilepsy. Animal models of epilepsy show that genetic factors can influence the hypersensitivity of neurons. In the human, there are over 140 Mendelian traits (including disorders of amino acids, enzymes, hormones, and vasculature) that increase the risk of seizures. Furthermore, systems with an intermediate optimum (such as blood clotting and blood glucose) involve a number of mechanisms under independent genetic control, and it is reasonable to assume that the same principle applies to neuronal excitability. Finally, genetic variation can be expected in any of the factors that are altered in the origin of seizures: neuronal inhibition, inactivation of excitatory neurotransmitters, feedback control, and seizure generalization. One goal of future research is to define etiological subtypes on the basis of biochemical data or other factors. Meanwhile, it is possible to analyze currently available indicators of phenotypic variability (age at onset of seizures, family history of seizures, seizure type, EEG pattern, and history of antecedent factors such as fever or trauma) to address the following questions: Do any phenotypic groups have different sibling risks for seizures? How much phenotypic variability is seen among affected siblings of each defined group of probands (index cases)? Do any groups of probands show significant biochemical differences? Within a specific group, do isolated and familial cases show the same phenotype? Within a presumed single entity, will linkage marker studies show further heterogeneity? With such data in hand, certain strategies can be recommended. Complex segregation analysis of family data will permit a test of alternative models for genetic transmission. Linkage studies of selected large families (using recombinant DNA probes) will establish the genetic map location of any single-locus major factor. Selected samples of multiplex families (with several affected siblings) will concentrate the likelihood of genetic factors and will permit the detection of biochemical factors that might be significant in only a few families. Biochemical and other hypotheses can be tested in a panel of twin pairs concordant or discordant for epilepsy. The search for genetic heterogeneity clearly has implications for diagnosis, prognosis, therapy, and genetic counseling, as well as for other research studies on the basic mechanisms of the epilepsies.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:Genetic heterogeneity in the epilepsies. 351 48

To elucidate the sequence complexity of polyadenylate messenger RNA [poly(A+)mRNA] regarding the seizure-susceptible El mouse brain, the proportion of complexity was measured by saturation hybridization using a single-copy DNA (scDNA) with excess RNA. At saturation, 3.81, 3.85 and 4.00% of scDNA hybridized with polysomal poly(A+)mRNAs of El(+), El(O) which had not been convulsed, and ddY (nonsusceptible) mice, respectively. The additive hybridization of a mixture of El(+) and ddY mouse mRNAs was 4.04%. The results suggest that there are considerable overlapping sets within the poly(A+)mRNA sequences between the ddY and El mice, but the complexity of ddY mice mRNA is slightly larger than that of the El mice, whereas poly(A+) heterogeneous nuclear RNA (hnRNA) hybridized with about 18% of scDNA in three strains of mice.
 ...
PMID:Sequence complexity of polyadenylate ribonucleic acid in El mouse brain. 357 34

The effect of hippocampal kindling on the levels of prodynorphin mRNA in rat hippocampus was examined by in situ hybridization using a synthetic oligonucleotide probe. Cryostat tissue sections were hybridised with a 32P-labelled 100 mer DNA probe complementary to the coding region of rat prodynorphin mRNA, and exposed to X-ray film. In rats exhibiting stage 4 seizures, the levels of prodynorphin mRNA in the dentate gyrus were dramatically reduced compared to control animals. This suggests that the development of kindling is accompanied by a reduction in the rate of synthesis of peptides derived from prodynorphin.
 ...
PMID:Levels of prodynorphin mRNA in rat dentate gyrus are decreased during hippocampal kindling. 368 85


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>