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 complement component C4 is encoded by two genes: C4A and C4B on human chromosome 6p in the major histocompatibility complex (MHC). Most studies have linked the deficiencies in C4 with systemic lupus erythematosus (SLE) in Angio-Irish, North American, Black American, Mexican American, Australian and Japanese populations. Null alleles at either locus (C4AQ0 or C4BQ0) are relatively common in Americans occurring at the C4A and C4B loci in approximately 10% and 16% of normal individuals, respectively. In the present study, we extensively examined the possible association between homozygous C4Q0 and SLE in a large cohort of Thai populations diagnosed as SLE and further attempted to identify the genetic basis of C4Q0. One hundred and eighteen cases of SLE patients and 145 matched controls were genotyped by touchdown PCR. The results confirmed the previous studies that 5.93% (7/118) of C4 null genes: 2.54% (3/118) of C4AQ0 and 3.39% (4/118) of C4BQ0 were found in SLE patients. In contrast to other studies, we found no cases of C4 null genes in normal control (0 from 145 samples). To further investigate the genetic basis of C4 deficiency, all genomic DNAs were also analyzed for 2-bp (TC) insertion at codon 1213 in exon 29 which is a common mutation in many C4A null genes and a novel 1-bp deletion (C) at codon 522 in exon 13 that is common in most C4B null genes. Both mutation results in a flame-shift mutation and premature stop codon using sequence specific primers PCR (SSP-PCR) and direct sequencing. The results showed that there was 2-bp insertion in exon 29 of mutant C4B gene in one SLE patient carrying C4AQ0. There was no 2-bp insertion in exon 29 of both C4A and C4B genes in normal individual and the rest of SLE patients. All patients with C4AQ0 exhibited more than 5 ACR criteria including malar rash, oral ulcers, renal disorder, immunological disorder, anti-nuclear antibody, without hematological disorder. In contrast, all of C4BQ0 SLE patients showed 5 or 6 ACR criteria including hematological disorder, malar rash, oral ulcers, renal disorder, immunological disorder and anti-nuclear antibody. A patient who possesses C4AQ0 and 2-bp insertion in exon 29 of mutant C4B showed 9 ACR criteria but no discoid rash and hematological disorder. In conclusion, both C4AQ0 and C4BQ0 are the strong predisposing factors for SLE in Thais. It was supported by the absence of either C4A or C4B deletion in healthy control. We suggested that the different racial and genetic backgrounds could alter the thresholds for requirement of C4A or C4B protein levels in immune tolerance and regulation.
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PMID:Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations. 1599 80

We report the case of a 29-year old female nurse with a five-year history of systemic lupus erythematosus (SLE) involving multiple systems and on chronic prednisone therapy. This patient has a coexisting diagnosis of fibromyalgia fulfilling ACR criteria. A recent deterioration in her level of functioning in addition to a flare of her inflammatory disease led to further evaluation. During the course of investigation an anti-glutamic acid decarboxylase antibody was found to be present and significantly elevated. A therapeutic trial of baclofen did result in improvement of her subjective myalgias. We raise the possibility of an autoimmune contribution to myalgic symptoms in a portion of SLE patients.
Lupus 2005
PMID:Anti-glutamic acid decarboxylase antibodies in a patient with systemic lupus erythematosus and fibromyalgia symptoms. 1603 14

The assessment of disease activity in systemic lupus erythematosus (SLE) is a task faced by clinicians in every day care, but it is also required for clinical research and in randomised controlled trials. It is crucial to distinguish disease activity from infection, chronic damage and co-morbid disease. Over the past 20 years, many indices have been developed to objectively measure lupus disease activity and several of these have been validated. The most widely used indices are the British Isles Lupus Assessment Group (BILAG) index, the European Consensus Lupus Activity Measurement (ECLAM), the Systemic Lupus Activity Measure (SLAM), the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) and the Lupus Activity Index (LAI). All these indices have been validated and have excellent reliability, validity and responsiveness to change. In addition to the assessment of disease activity, the evaluation of damage using the validated SLICC/ACR damage index and health-related quality of life is advised for clinical research.
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PMID:Assessment of patients with systemic lupus erythematosus and the use of lupus disease activity indices. 1615 Mar 98

Measurement of high sensitivity C-reactive protein (hs-CRP), has been used in the assessment of disease activity in numerous rheumatic conditions including systemic lupus erythematosus (SLE). However, the utility of hs-CRP measurement in patients with lupus is uncertain. This study examined if hs-CRP can be used to assess disease activity, severity and cardiovascular risk in SLE. Serum samples from 601 visits of 213 SLE patients and 134 controls were analysed for hs-CRP by nephelometry. Detailed demographic data were obtained from all subjects and medication history and key laboratory parameters were collected. Disease activity was assessed using the SLEDAI. High sensitivity CRP was not associated with disease activity (SLEDAI), number of ACR SLE criteria or presence of any particular organ involvement. hs-CRP levels were significantly correlated with standard cardiovascular risk factors including body weight (P = 0.0002), hypertension (P = 0.001), and apolipoprotein A-I (P < 0.0001). Interestingly an inverse correlation was seen between hs-CRP levels and antimalarial use (P = 0.0018). Our results suggest that measurement of hs-CRP, though not valuable as marker of disease activity in SLE may be of some use in the assessment of cardiovascular risk. We speculate that antimalarials may help to reduce cardiovascular risk in patients with SLE.
Lupus 2005
PMID:High sensitivity C-reactive protein in systemic lupus erythematosus: relation to disease activity, clinical presentation and implications for cardiovascular risk. 1617 28

The purpose of this study was to assess the association between the serum levels of aminoterminal propeptide of type III procollagen (PIIINP) and carboxyterminal propeptide of type I procollagen (PICP) with disease activity and damage in systemic lupus erythematosus (SLE). Thirty-three patients with SLE were compared with 31 controls. The assessment in SLE included disease activity indices (SLEDAI, MEX-SLEDAI) and damage index (SLICC/ACR). PIIINP and PICP were measured by radioimmunoassay. Compared with controls, mean levels of PIIINP were higher in SLE (2.9+/-1.8 vs. 1.8+/-1.2, P=0.006). PICP was also increased in SLE versus controls (163+/-94 vs. 102+/-62, P=0.007). PIIINP was correlated with SLICC/ACR (r=0.33, P=0.048). No correlation was observed between PICP and PIIINP with other clinical or therapeutic variables. These preliminary data suggests a role of PIIINP as a marker for chronic damage. Follow-up studies are required to evaluate its utility in predicting future damage.
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PMID:Serum concentrations of aminoterminal propeptide of type III procollagen and propeptide of human type I procollagen in systemic lupus erythematosus. 1623 Nov 21

The objective of this study was to describe the prevalence and outcome of disease-related serositis in Chinese patients with systemic lupus erythematosus (SLE). The records of all SLE patients who attended the medical clinics of Tuen Mun Hospital, Hong Kong were retrospectively reviewed. Patients with disease-related serositis at any stage of their illness were identified and the outcome of these serositis episodes was reported. Three-hundred and ten patients (90% women) who fulfilled at least four of the ACR criteria for SLE were studied. The mean age of SLE onset was 32.6 +/- 13.1 years. sixty-nine episodes of SLE-related serositis occurred in 37 patients - 18 (26%) episodes were pericarditis/ pericardial effusion, 30 (44%) were pleuritis/pleural effusion and 21 (30%) were peritonitis/ascites. The prevalence of serositis was 12%. At the time of serositis, 34 (92%) patients had active SLE in other systems. Nonsteroidal anti-inflammatory drugs (NSAIDs) were initially used in 13 (35%) patients. Moderate to high doses of oral prednisolone was used in 28 (76%) patients for both serositis and concomitant disease activity in other organs. All episodes of serositis resolved completely within two months. Over a mean observation of 46 months, nine patients had 18 relapses of serositis, which were responsive to either NSAIDs or augmentation of prednisolone dosage. Pleural fibrosis developed in three patients. Serosal complications are not uncommon in patients with SLE and can be life-threatening. NSAIDs and corticosteroids are often effective but more aggressive immunosuppressive therapy is required for severe or refractory cases. The prognosis of lupus serositis is generally good. Relapse or progression to fibrotic disease is uncommon.
Lupus 2005
PMID:Serositis related to systemic lupus erythematosus: prevalence and outcome. 1630 77

Early diagnosis in patients with systemic lupus erythematosus (SLE) remains a challenge even to experienced rheumatologists. This is due to the diversity of presentation with single or multiple manifestations and the variable course. In contrast to the considerable progress in treatment modalities no reliable diagnostic marker has been developed in the last years. So the diagnosis is made largely on clinical grounds with great awareness of anamnestic features, thoroughly performed physical examination supported by laboratory and organspecific tests. The 1997 revised ACR classification criteria are of great value, though they do not satisfy in every single case. With respect to the potentially life or organ threatening course of SLE a good interdisciplinary cooperation of general practitioners and specialists with rheumatologists is of special importance.
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PMID:[Early diagnosis in patients with systemic lupus erythematosus (SLE)]. 1632 59

When dealing with Neuropsychiatric Systemic Lupus Erythematosus (NPSLE) there are still many controversial topics. In 1999 the American College of Rheumatology gave classification criteria for 19 clinical syndromes. However major problems are still related to low specificity of some of them such as headache, cognitive impairment or mood disorders. Even though a frequency of CNS involvement from 14 to 75% has been described, depending on both the population studied and the methodology of assessment, a lower frequency ranging from 21 to 28 % derived by larger case series seems more realistic. The introduction of the concept of "borderline cases", proposed by Italian Study Group for NP-SLE, is based both on clinical and instrumental evaluation and could represent a useful tool when dealing with conditions which do not fulfil ACR classification. Also the relationship between SLE activity and NP involvement is a debated issue. Concerning pathogenesis, it seems reasonable to consider multifactorial mechanisms related to antibody-mediated damage, antiphospholipid pro-thrombotic effect, non-inflammatory vasculopathy and cytokines mediated cytotoxycity. However, direct and unequivocal evidence for the implication of any of the above-mentioned mechanisms is still lacking. Although a wide range of neuroimaging tools have been used to evaluate CNS involvement, no single technique has proven to be definitive and, when dealing with a patient with suspected NPSLE, it is important to combine different diagnostic techniques. Due to the lack of effective imaging along with limitation in knowledge of underlying pathogenetic mechanisms and paucity of histopathologic findings, therapeutic approach in NPSLE remains a difficult issue and is currently based on personal experience. Italian Study Group for NP-SLE proposes the creation of a national registry on NPSLE to validate ACR classification criteria. Furthermore, the possibility to collect large series and stratifying them for each of the included neuro-psychiatric syndromes seems a good strategy for planning multicentric controlled therapeutic trials in the near future.
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PMID:[Neuropsychiatric systemic lupus erythematosus: where are we now?]. 1638 Jul 47

The objective of this study was to examine factors predictive of a decline to low levels of disease activity in a cohort of systemic lupus erythematosus (SLE) patients. Patients with SLE of Hispanic (from Texas or Puerto Rico), African-American or Caucasian ethnicity from a multiethnic cohort were included. A decline to low levels of disease activity was defined as a score < or =5 as per the Systemic Lupus Activity Measure-Revised (SLAM-R) at any annual study visit if preceded by a SLAM-R > or =8. Using Generalized Estimating Equation (GEE), socioeconomic-demographic, behavioral, function, psychological, laboratory and clinical data [disease manifestations, number of ACR criteria accrued at diagnosis and damage accrual as per the Systemic Lupus International Collaborating Clinics (SLICC) Damage Index (SDI)] from the visit preceding that meeting the definition were examined as predictors of decline to low levels of disease activity. Two-hundred and eighty-seven patients (67 Hispanics from Texas, 32 Hispanics form Puerto Rico, 120 African-Americans and 68 Caucasians), accounting for 632 visits were analyzed. In the GEE multivariable analysis, higher degrees of social support (OR = 1.208, 95% CI 1.059-1.379; P = 0.005) were predictive of a decline to low levels of disease activity, while the number of ACR criteria accrued at diagnosis (OR = 0.765, 95% CI 0.631-0.927; P = 0.006) and damage (OR = 0.850, 95% CI 0.743-0.972, P = 0.018) were negatively associated. These data suggest that a decline to low levels of disease activity in lupus patients seems to be multifactorial; this study also underscores the importance of social support for lupus patients.
Lupus 2006
PMID:Systemic lupus erythematosus in a multiethnic U.S. cohort (LUMINA) XXVII: factors predictive of a decline to low levels of disease activity. 1648 40

Both clinically and scientifically, the variable organ manifestations of systemic lupus erythematosus (SLE) pose a particular challenge to rheumatologists. Validated scores for disease activity (BILAG, ECLAM, SIS, SLAM, SLEDAI), damage (SLICC/ACR damage index) and health-related quality of life (MOS SF-36) have been successfully used for years. New therapies, however, need to show improvement on outcome parameters for defined organ systems--and these are mostly ill-defined. For proliferative lupus nephritis, well designed studies have been available for years. However, these use very severe outcome parameters (renal failure, death), and therefore take at least 5 years for definitive results. Of the surrogate markers which were devised, none has proven reliable for determining outcome. The combination of shorter studies for defining hopeful strategies followed by long definitive studies, appears to be the best option at present.
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PMID:[Systemic lupus erythematosus--activity and outcome]. 1650 25


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