Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a case of a 19-year-old woman admitted for the investigation of fever and hemolytic anemia for the previous 2 months. As an inpatient, she had convulsions and sudden loss of consciousness, developing hemoptysis, hypoxia, and respiratory insufficiency. Examination showed pericardial effusions on the echocardiogram and bilateral alveolar condensations on the thoracic radiograph. A hypothetical diagnosis of systemic lupus erythematosus was made, and measurement of the antinuclear factor was requested along with daily pulse therapy methylprednisolone, in spite of which the outcome was fatal. Afterwards, the result of the antinuclear factor test was positive, with a titer of 1:5120, showing a fine punctiform pattern, fulfilling the criteria for systemic lupus erythematosus according to the American College of Rheumatology. Secondary pulmonary hemorrhage in this connective tissue disease is an uncommon but serious complication that involves a high level of mortality in spite of intensive treatment, as is also reported in the literature.
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PMID:Pulmonary hemorrhage as a manifestation of systemic lupus erythematosus. 1502 85

Antiphospholipid syndrome is considered to be a cause of an acquired hypercoagulable state leading to stroke and transient ischemic attack. Antiphospholipid antibodies (aPL) comprise a heterogeneous group of autoantibodies. Among them, lupus anticoagulant (LA) and beta 2-glycoprotein I dependent anticardiolipin antibody (beta 2-GPI aCL) are important and commonly measured. Recently, LA has been considered to be closely related to phosphatidylserine anti-prothrombin antibody. APL is an independent risk factor for first-ever ischemic stroke and a prognostic marker of recurrent stroke. The precipitating factors for the occurrence of stroke are the presence of beta 2-GPI-dependent aCL, a GPL aCL level of more than 40, and the simultaneous presence of lupus anticoagulant. Several mechanisms are believed to be involved in the thrombotic process in patients with antiphospholipid antibodies. Human activated protein C functions as a potent anticoagulant in human plasma by inhibiting the activity of coagulation cofactors Va and VIIIa. Activation of protein C is impaired in patients with aPL. Recently, the presence of aPL has been considered to be contributory factor for the development of atherosclerotic lesions. Transgenic mouse lacking the LDL receptor develop accelerated arteriosclerosis upon immunization with beta 2-GPL Several therapeutic options are available for the prevention of ischemic stroke in patients with aPL, such as antiplatelet, anticoagulant, and immunosuppressive therapy. The rate of recurrence in patients undergoing antiplatelet and anticoagulation combination therapy was found to be lower than that in patients receiving other forms of therapy. The WARSS-APASS collaborative study showed that there was no difference in the recurrence rate between aPL patients receiving antiplatelet or anticoagulation therapy alone. APL has been investigated in other neurological disorders such as multiple sclerosis, chorea, migraine and convulsion. The association of aPL with multiple sclerosis remains debatable. APL could be a contributory factor for the development of convulsion, but not for migraine.
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PMID:[Neurological aspects in antiphospholipid syndrome]. 1515 54

We describe a pregnant woman with systemic lupus erythematosus, complicated by severe pre-eclampsia (the HELLP syndrome) and adult respiratory distress syndrome, who died in the intensive care unit. A 33-year-old multigravid woman was referred to our university hospital at 17 weeks' gestation because of an exacerbation of systemic lupus erythematosus with elevated liver enzymes and thrombocytopenia. At the time of admission, on physical examination she had revealed a butterfly rash over the cheeks, purpura, acute synovitis and oedema of the legs. Her blood pressure was 180/100 mmHg. The initial laboratory tests and immunological evaluation confirmed active systemic lupus erythematosus complicated by severe pre-eclampsia. One week after admission, she became suddenly confused and had a convulsion with Glascow Coma Score 10 (3+3+4). Therapeutic abortion was induced in the Obstetric Department. She was transferred to the intensive care unit with a diagnosis of respiratory failure, probably due to acute respiratory distress syndrome, and was intubated and ventilated. Dialysis was instituted on two consecutive days from the eighth day. In total she received over 20 units of red blood cells and large quantities of fresh frozen plasma and platelets. On the 24th day her Glascow Coma Score was 2 (1+1+E) and severe hypotension developed. She died from worsening acute respiratory distress syndrome on the 25th day. Women with systemic lupus erythematosus should be advised to become pregnant when the disease is inactive and should be observed at an appropriate centre using a multidisciplinary approach. Therapeutic abortion is an acceptable option if active nephropathy and severe pre-eclampsia are present in early pregnancy.
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PMID:Systemic lupus erythematosus complicated by HELLP syndrome. 1567 19

A 32-year-old Japanese woman, who had a treatment history of systemic lupus erythematosus (SLE) with lupus nephritis World Health Organization class IV for 11 months, visited our hospital due to fever, facial erythema, and erosion of the oral cavity on November 10, 2003. Her mucosal erosion and facial skin erythema progressed over the following week, and Stevens-Johnson syndrome was diagnosed due to pathological findings of the skin. Among the administrated drugs, only mizoribine, started 6 months earlier, produced a positive reaction in the drug lymphocyte stimulation test. Increased prednisolone and high dose intravenous gamma-globulin were given successfully. Cyclosporine at 50 mg was administered to control the SLE, followed by an increase to 100 mg on January 7, 2004. She suffered from abdominal pain, blindness, and convulsion on January 9. The magnetic resonance image of her brain prompted a diagnosis of reversible posterior leukoencephalopathy syndrome. After withdrawal of cyclosporine and control of hypertension, symptoms disappeared rapidly. Cyclophosphamide pulse therapy was successfully administrated to control lupus nephritis. This is the first report describing the relationship between Stevens-Johnson syndrome and mizoribine. Although the use of mizoribine is thought to be safe, careful observation is necessary.
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PMID:Stevens-Johnson syndrome induced by mizoribine in a patient with systemic lupus erythematosus. 1663 33

We described a case of thrombotic thrombocytopenic purpura (TTP) with systemic lupus erythematosus (SLE). A-60-year old woman was admitted to our hospital because of fever, disconsciousness, and general fatigue. 32 years ago, she was diagnosed as SLE with Raynaud's phenomenon, rash, photosensitivity, arthritis, lymphocytopenia, and ANA. Her SLE was well controlled with 10 mg predonisolone as a maintance dose until several weeks ago. On admission, severe thrombocytopenia (0.7x10(4)/microl) and other laboratory data revealed microangiopathic hemolytic anemia and renal dysfunction, Immediately after diagnosed as TTP, plasma exchange and corticosteroid therapy started. In spite of the treatment, disconsciousness progressed and systemic convulsion occurred and died 4 days after admission. Autopsied examination revealed diffuse microvascular hyalinized thrombi in heart, kidney, liver, spleen, and pancreas. Some microvascular thrombi were detected in lymph nodes, bone marrow, intestine. Pathological diagnosis of TTP was made on microvascular hyalinized platelet thrombi in organs. Von Willebrand factor-cleaving protease (VWF-CP) activity in plasma on set is less than 0.5 percent of normal and inhibitor for VWF-CP was detected. We here report a valuable case for analysis of pathogenesis in SLE-TTP.
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PMID:[A case of thrombotic thrombocytopenic purpura with systemic lupus erythematosus]. 1707 94

Gender differences in susceptibility to complex disease such as asthma, diabetes, lupus, autism and major depression, among numerous other disorders, represent one of the hallmarks of non-Mendelian biology. It has been generally accepted that endocrinological differences are involved in the sexual dimorphism of complex disease; however, specific molecular mechanisms of such hormonal effects have not been elucidated yet. This paper will review evidence that sex hormone action may be mediated via gene-specific epigenetic modifications of DNA and histones. The epigenetic modifications can explain sex effects at DNA sequence polymorphisms and haplotypes identified in gender-stratified genetic linkage and association studies. Hormone-induced DNA methylation and histone modification changes at specific gene regulatory regions may increase or reduce the risk of a disease. The epigenetic interpretation of sexual dimorphism fits well into the epigenetic theory of complex disease, which argues for the primary pathogenic role of inherited and/or acquired epigenetic misregulation rather than DNA sequence variation. The new experimental strategies, especially the high throughput microarray-based epigenetic profiling, can be used for testing the epigenetic hypothesis of gender effects in complex diseases.
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PMID:Complex disease, gender and epigenetics. 1743 68

The patient was a 33 year female. In 2001, she was diagnosed with systemic lupus erythematosus (SLE) and treated with prednisolone and ciclosporin. In May 2006, she noticed slight muscle weakness in the bilateral lower limbs. In July of the same year, she experienced gait difficulty and was admitted to our hospital because of fatigue, appetite loss, fever and disorientation. Soon afterwards, she had a fit of general convulsion and suffered from urinary retention and fecal incontinence. A brain magnetic resonance image revealed atrophy of the thoracic cord in T2 weighted images, and cerebrospinal fluid examination showed high total protein and interleukin-6 concentration, indicating complication of lupus myelitis as well as cerebral involvement. Steroid pulse and oral prednisolone treatment resulted in ameriolation of cerebral complications such as disorientation and convulsion, but muscle weakness and paresthesia in the lower limbs and urinary retention persisted. Cyclophosphamide pulse therapy was started and resulted in a marked recovery from muscle weakness, paresthesia and urinary retention, and she could discharge. We conclude that steroid and cyclophosphamide pulse therapy for a SLE patient with CNS lupus and lupus myelitisis is effective for ameriolation of symptoms such as disorientation, convulsion, urinary retension, fecal incontinence, muscle weakness and paresthesia in the lower limbs as well as elevated level of serum anti-ribosomal P antibody.
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PMID:[Successful therapy with steroid and cyclophosphamide pulse for CNS lupus and lupus myelitis]. 1798 83

The association of isolated congenital heart block (CHB) with maternal autoantibodies to SSA/Ro and SSB/La ribonucleoproteins is approaching the predictable, even in mothers who are completely asymptomatic. Indeed, this model of passively acquired autoimmunity offers an exceptional opportunity to examine the effector arm of immunity and define the pathogenicity of an autoantibody in mediating tissue injury. The study of CHB exemplifies not only translational research, which inherently draws upon clinical observations and explores them in the laboratory, but "integrational" research which attempts to fit critical clinical and basic observations together, even those seemingly at odds. The spectrum of conduction abnormalities includes second and third-degree block, but injury can extend to the myocardium and endocardium, in rare cases without AV nodal dysfunction. The rarity of disease continues to drive the search for factors (fetal and environmental) that might amplify the effects of the maternal autoantibodies. The identification of exaggerated apoptosis, macrophage/myfibroblast crosstalk, TGF beta expression, and extensive fibrosis in the conducting system and in some cases surrounding myocardium in fetuses dying with CHB, provide in vivo support for several parallel lines of in vitro investigation. Specifically, the consideration of exaggerated apoptosis as the initial link between maternal antibody and tissue injury led to the observation that cardiocytes are capable of phagocytosing autologous apoptotic cardiocytes and anti-Ro/La antibodies inhibit this function. Recognizing that this perturbation of physiologic efferocytosis might divert uptake to professional Fc gamma R-bearing phagocytes fits well with experiments demonstrating macrophage secretion of pro-inflammatory and fibrosing cytokines when coincubated with apoptotic cardiocytes bound by Ro/La antibodies. While CHB is rare, its study should set precedent for defining the role of autoantibodies in driving end organ disease.
Lupus 2008 Feb
PMID:Dying right to live longer: positing apoptosis as a link between maternal autoantibodies and congenital heart block. 1825 Jan 29

Rasmussen syndrome (RS) and non-herpetic acute limbic encephalitis (NHALE) have pathophysiological background related with autoimmunity to glutamate receptors (GluRs) after infections. RS and NHALE were reviewed, depending mainly on our recent studies. RS is the prototype of autoimmune-mediated epilepsy. In patients with RS, several kinds of autoantibodies against neuronal molecules, for example, GluR3, GluRepsilon2 (NMDA-R2B), etc., are reported. These autoantibodies are not specific for RS. About autoantibodies against GluR3, significance and stimulating effects to GluR3 are controversial. Autoantibodies against GluRepsilon2 were detected in all patients within six months from epilepsy onset, and in some patients at chronic stage. These data suggest that autoantibodies against GluRepsilon2 may be involved in the pathological mechanisms in the early stage, but we could not confirm the effect of the autoantibodies from RS patients on excitatory postsynaptic NMDA current using patch clump methods. However, anti-double-stranded DNA antibodies in patients with SLE are reported to cross-react with n-terminal of GluRepsilon2, and cause neuronal apoptosis in rat hippocampus, ensuing memory impairment, and emotional behavior impairment in mice. Therefore, autoantibodies against GluRepsilon2 may contribute to the cognitive and behavioral changes in RS. Concerning about cellular immunity in RS, lymphocytes stimulating tests revealed peripheral lymphocytes sensitized by antigens containing GluRepsilon2. Cytotoxic T cells (CTLs) excreting Granzyme B were reported in resected brain tissue, and we confirmed the elevated levels of Granzyme B, not in sera, but in CSF. These data suggest that CTLs activated by infection invade into CNS, and recognize neural antigens, and excrete Granzyme B. The incidence of NHALE is 4.1/1 million/year in Japanese adults. Our study in 91 adult patients with NHALE revealed the following characteristics. Mean onset age was 35.2 +/- 16.9 years old, and preceding infections existed in 68.7% of patients, and predominant symptoms at the onset were psychiatric symptoms (33.3%) and convulsions (25.0%). CSF showed slightly elevated cell counts (55.5 +/- 139.9), protein levels (48.1 +/- 36.0 mg/dl), and IgG levels (4.5 +/- 3.9 mg/dl). MRI lesions with high intensity were found in 40.8% (DWI) and 54.2% (FLAIR) of patients in various stages after onsets. Autoantibodies against GluRepsilon2 in sera were detected in approximately 60% of NHALE patients from acute to chronic stages, and the autoantibodies in CSF were detected in 51.8% (acute stage), 41.4% (recovery stage), 28.6% (chronic stage) of patients and included epitopes to n-terminal of GluRepsilon2 (NT1). These data suggest that autoantibodies against GluRepsilon2 produced in sera after infection infiltrate into CNS through damaged BBB in acute stages, and affect n-terminal of GluRepsilon2. In chronic stage, recovery of function of BBB reduces levels of the autoantibodies in CSF. Because BBB in hippocampi and amygdala are vulnerable, autoantibodies against GluRepsilon2 including epitopes to n-terminal may contribute to the limbic symptoms around onset. Among several autoantibodies related with NHALE, autoantibodies against GluRepsilon2 were found in patients around 15-34 years old, autoantibodies against VGKC were around 50.4 years old, autoantibodies against NAE were around 59 years old, autoantibodies against Hu were around 61.5 years old. These data suggest that autoantibodies related with NHALE have age-dependent heterogeneity.
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PMID:[Rasmussen encephalitis and non-herpetic acute limbic encephalitis]. 1840 35

In this study, we aimed to analyze features and outcome of convulsion in pediatric lupus nephritis patients. We retrospectively reviewed data of 14 Iranian children with lupus nephritis who developed seizures and compared them with a group of the same number of well matched pediatric lupus nephritis patients. Higher serum creatinine levels and higher frequencies of anemia and lymphopenia were observed in the convulsion group. Multivariable logistic regression analysis revealed that the only risk factor for development of convulsion in pediatric lupus patients with nephritis was lymphopenia. Survival analysis showed that convulsion had no impact on patient and renal function outcomes in our pediatric lupus nephritis subjects. In conclusion, we found that lymphopenia is a predictive factor for convulsion occurrence in our patients and special attention to neurological status assessment may be needed in this situation.
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PMID:Prognosis and predictors of convulsion among pediatric lupus nephritis patients. 1941 45


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