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 study of serum from a patient with C2 deficiency is described. The patient had an episode of pneumococcal meningitis at 5 mo of age with seizures and transient hemiparesis and apparent purpuric skin lesions. He was first admitted to the University of Minnesota Hospitals at 10 yr of age following the discovery of proteinuria accidentally by his mother. Since then he has been admitted repeatedly to this hospital with numerous clinical findings including arthralgia, recurrent abdominal pain, proteinuria, membranous nephropathy, malar butterfly rash, seizures, personality aberrations, and recurrent fever. In June 1971, the patient developed positive DNA and DNP antibodies and positive LE cells. When the C profile was studied before and after recognition of lupus, C1q, C1s, and C4 dropped. C3 levels were elevated as were C5, C6, and C7, C3 proactivator had been reduced in the patient even before he developed lupus. Also because of a traumatic renal biopsy leading to a perirenal hematoma, he required surgery and a blood transfusion. 1 h after blood transfusion, a C2 titer of 23 hemolytic units was detected. Almost immediately levels of C3, C5, C6, and C7 dropped, C8 and C9 remained elevated. The addition of C2 from normal blood permitted dramatic activation of C3. These findings support the view that the rare deficiency in production of C2 predisposes to serious susceptibility to infection, vascular and mesenchymal disease as well as to renal disease and a lupus syndrome.
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PMID:C2 deficiency. Development of lupus erythematosus. 457 55

Three cases are presented, in two of which the CNS lesions revealed the presence of systemic lupus erythematosus (SLE). The diagnosis of SLE was certain according to the criteria of the ARA, and it was further confirmed by results of renal needle puncture biopsy. Case 1: A 16-year-old adolescent developed choreic movements followed, one month later, by psychotic symptoms suggesting a mixed hebephrenic-catatonic schizophrenic affection. Cutaneous lesions and signs of renal insufficiency 3 months later established that these disorders were related to SLE. A favourable outcome was observed rapidly for the systemic signs, recovery from neuropsychic symptoms being obtained after 3 months only but then in a few days. This course suggests the diagnosis of a "functional psychosis" of lupus origin. Case 2: A 24-year-old woman developed left hemiparesis followed by febrile coma. The slowly favourable course of the disease led to the appearance of a progressive dementia, with numerous epileptic seizures. Although tests for antinuclear antibodies were negative and the ESR was normal, several minor biological anomalies were suggestive of a systemic disease and the diagnosis of SLE was finally established. Corticotherapy produced only slight transient improvement. This progression towards dementia with progressive cerebral atrophy is most probably related to cerebral lupus lesions, the initial coma in the absence of any other apparent cause possibly being the first sign. Case 3: A 47-year-old woman developed simultaneously or separately episodes of arthralgia and uveitis of unknown origin over a 12-year period, and attacks of regressive multilocular neurological deficiency over a 15-year period.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Central nervous system involvement in systemic lupus erythematosus]. 671 10

High-dose intravenous methylprednisolone therapy has previously been shown to be efficacious in the treatment of renal lupus erythematosus. The present report presents 2 patients with life-threatening, nonrenal lupus erythematosus. One patient had coma and seizures, while the other had sever thrombocytopenia and anaemia. Both had failed to respond to oral corticosteroid therapy in high doses but had dramatic clinical responses with intravenous methylprednisolone given in 'pulses.' Possible mechanisms of clinical improvement are discussed.
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PMID:Methylprednisolone pulse therapy for nonrenal lupus erythematosus. 677 13

A 20-year-old patient with biologically-confirmed lupus developed a perirenal abscess following puncture biopsy of the kidney. Postoperative treatment included metronidazole at a mean dose of 2.5 g daily for 68 days (total dose : 165 g). Generalised convulsive seizures occurred on four occasions, associated with paresthesia of the four limbs, but without loss of motor or reflex activity, though some distal hypoesthesia was detected. An acute lupus attack was eliminated, the convulsive seizures not recurring after discontinuation of treatment, and the paresthesias diminishing progressively over a period of three months. Electrical investigations showed lack of motor anomalies but a marked reduction in sensory conduction. This is the 13th reported case of polyneuritis due to metronidazole, the 4th case of convulsive seizures, and the first case in which both manifestations occurred. The plasma concentration curve after oral administration of 1 g of the product to this patient demonstrated that the product was not being metabolised in a pathological manner.
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PMID:[Convulsive seizures and polyneuritis in a patient with lupus treated with metronidazole (author's transl)]. 731 7

The validity of the hypothesis that some of the neuropsychiatric manifestations of systemic lupus erythematosus (SLE) are mediated by the direct effects of antibody binding to neuronal cell membranes is dependent on the demonstration of antineuronal activity within the central nervous system of patients with active central nervous system disease. Using a radiolabelled staphylococcal protein A assay, we tested cerebrospinal fluid from 27 patients with SLE and central nervous system manifestations, and cerebrospinal fluid from 18 additional patients with SLE but free of central nervous system disease for antibody reactive with the cultured human neuronal cell line SK-N-SH. Cerebrospinal fluid from 20 of 27 patients with active lupus central nervous system disease had increased immunoglobulin G (IgG) antineuronal activity compared with cerebrospinal fluid from two of 18 patients with SLE without central nervous system disease. Ninety percent of the patients with psychosis, organic brain syndrome or generalized seizures had increased IgG antineuronal activity as compared with only 25 percent of the patients who presented with hemiparesis or with chorea/hemiballismus. Antineuronal activity per microgram of IgG was concentrated eightfold in the cerebrospinal fluid of patients with active central nervous system disease as compared with the serum activity. Patients with or without active central nervous system disease did not differ significantly in the amount of serum antineuronal binding activity. The results are consistent with the hypothesis that the more diffuse central nervous system manifestations of SLE are a direct result of the interaction of antibody with neuronal cell membranes.
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PMID:Cerebrospinal fluid antibodies to neuronal cells: association with neuropsychiatric manifestations of systemic lupus erythematosus. 746 11

A 23-year-old woman, who had nonbullous congenital ichthyosiform erythroderma since her childhood, was diagnosed as nephrotic syndrome caused by systemic lupus erythematosus (SLE). She was pregnant but experienced fetal loss at the age of 25. Although 10 mg/day of oral prednisolone was administered, low levels of serum complement, proteinuria, thrombocytopenia (6.0 x 10(4)/mm3) and biological false positive for STS continued. When she was 27 years old, right hemichorea developed. She was admitted to our hospital at the age of 28 because of low levels of serum complement, high titers of anti ds-DNA antibody, profuse proteinuria, gingival bleeding and thrombocytopenia (1.5 x 10(4)/mm3). The nephrotic syndrome gradually improved after 1 g/day of methylprednisolone for 2 days and the oral prednisolone dosage was then increased up to 40 mg/day, and was tapered to 10 mg/day. Epileptic attack (minor seizure) occurred at the age of 29. Continuous low levels of serum complement and high titers of anti ds-DNA antibody were improved by adding 50 mg/day of cyclophosphamide. However, high levels of beta 2 GPI dependent anticardiolipin antibody and lupus anticoagulant activity were observed throughout the study. Our patient was a very rare case of congenital ichthyosis with typical antiphospholipid antibody syndrome and SLE. A few cases of acquired ichthyosis associated with SLE has been reported, and ichthyosis developed only in active stage of SLE. However, our patient's ichthyosiform lesions were not changed throughout the course.
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PMID:[Systemic lupus erythematosus and antiphospholipid antibody syndrome in a patient with congenital ichthyosiform erythroderma]. 748 67

Autoantibodies from many patients with systemic lupus erythematosus bind the Sm autoantigen B/B' polypeptide. The binding of serial serum specimens to the 233 overlapping octapeptides of Sm B/B' have shown that of the B/B'-derived octapeptides, PPPGMRPP and PPPGIRGP are early targets of the autoimmune response in some lupus patients. Rabbits immunized with PPPGMRPP and PPPGIRGP develop antibodies which not only bind these octapeptides, but also subsequently bind many other octapeptides of Sm B/B'. Eventually, the rabbits immunized with one octapeptide develop autoantibodies that bind other spliceosomal proteins including D, 70K, A, and C. Any mechanisms that operate to maintain tolerance or anergy for the spliceosome are thus overcome. Features considered typical of human systemic lupus erythematosus are also found in these peptide-immunized animals, such as antinuclear antibodies, anti-Sm precipitins, anti-double-stranded DNA, thrombocytopenia, seizures, and proteinuria. This disease model provides access to a mechanism for the development of humoral autoimmunity and may provide a basis to explain the immunopathogenesis of lupus in humans.
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PMID:Immunoglobulin epitope spreading and autoimmune disease after peptide immunization: Sm B/B'-derived PPPGMRPP and PPPGIRGP induce spliceosome autoimmunity. 753 Jul 56

Lupus inhibitors have been reported in a number of pathologic states in which there is a disruption of normal immunoregulation. We report here the development of new lupus inhibitors following bone marrow transplantation. Retrospective analysis of 1292 patients undergoing transplantation at the University of Minnesota over a 10 year period demonstrated newly recognized lupus inhibitors in 3% of the patients. These inhibitors were usually detected in the first 1-2 months after transplant. They occurred more frequently in children, with a particularly high incidence in patients with Hurler syndrome. The development of inhibitors was associated with the use of cyclosporine A (CsA) or T depletion for GVHD prophylaxis, with the use of busulfan/cytoxan as a preparative regimen (which includes phenytoin for seizure prophylaxis) and with the occurrence of viral infections. Lupus inhibitors were not associated with development of GVHD, or with any diagnosis other than Hurler syndrome. Thrombotic complications were rare as would be expected in this severely thrombocytopenic population. The incidence of lupus inhibitors that we recognized may substantially underestimate the true incidence as frequent routine coagulation studies were not performed in these patients. Prospective evaluation of lupus inhibitors during bone marrow transplant may provide insight into the pathogenesis of these inhibitors in other disease states.
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PMID:Lupus inhibitors following bone marrow transplant. 777 20

An examination has been carried out of 46 patients (33 females, 13 males, a mean age 40) with Sneddon's syndrome characterized by cerebrovascular disturbances and marked livedo. A clinical spectrum of the syndrome included miscarriage and intrauterine death of the fetus (20 cases), peripheral vein thromboses (12 cases), coronary heart disease (18 cases), thrombocytopenia (8 cases), arterial hypertension (27 cases), headache (39 cases), epileptic seizures (5 cases). Similar manifestations are usually seen in antiphospholipid syndrome (AFLS). Antibodies to phospholipids, those to cardiolipin, lupus anticoagulant were detectable in 78, 50 and 61% of the cases, respectively. Clinical and immunological signs of AFLS in the absence of SLE-typical symptoms provided grounds for considering them primary AFLS. Similar clinical patterns in 36 patients with cardiolipin antibodies and/or lupus anticoagulant and 10 patients without the antibodies and anticoagulant suggest these cases to be AFLS too.
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PMID:[Sneddon's syndrome and the primary antiphospholipid syndrome]. 805 89

The effects of circulating anticardiolipin (ACL) antisera in lupus patients on the LP5 central neuron of snail were studied. Both GABA and glutamate increased a chloride conductance of the LP5 neuron. The ACL antisera decreased the GABA-elicited responses in a concentration dependent manner while it had no effect on glutamate-elicited responses. The ACL antisera affected neither the resting membrane current, nor the membrane conductivity of neuron. Antisera without the activity of anticardiolipin did not decrease the GABA-elicited responses. The seizure incidence of the patients with higher ACL antisera levels is also higher. It is concluded that ACL antisera inhibited the GABA ionophore receptor complex in a snail central neuron.
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PMID:Anticardiolipin antisera from lupus patients with seizures reduce a GABA receptor-mediated chloride current in snail neurons. 815 32


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