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)

Two cases of diabetic mastopathy are reported. The patients presented with a rapidly increasing mammary mass. The pathologic findings of diabetic mastopathy usually consist of a lymphocytic lobulitis, a dense stromal fibrosis and prominent epithelioid fibroblasts. In our two cases, the latter findings were initially misinterpreted as malignant cells of an invasive lobular carcinoma. These lesions were first described in longstanding insulin dependent diabetics but recent reports showed that they could also occur in patients with other auto-immune disorders (systemic lupus erythematous, hypothyroidism). Diabetic mastopathy may reoccur locally and the treatment remains to be determined.
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PMID:[Diabetic mastopathy with epithelioid fibroblasts :differential diagnosis from an infiltrating lobular carcinoma of the breast. Report of two cases]. 865 98

Insulin dependent diabetes (IDD) is considered to be an immune endocrinopathy as in such patients a disorder of the immune system is involved; however, up to now no data are available on the occurrence of antiphospholipid antibodies (aPL) in IDD pregnant women and on possible correlation between the presence of aPL and the high fetomaternal morbidity reported in these patients. The presence of lupus anticoagulant (LA) and of anticardiolipin antibodies (ACA) was monthly evaluated. In 35 IDD pregnant women referring within the 7 degrees week of pregnancy to the High Risk Pregnancy Medical Unit. Levels of D-dimer, fibrin degradation product, were also assayed. Twelve IDD pregnant women resulted to be aPL positive with a markedly high prevalence of positivity (34%). aPL positive did not significantly differ from aPL negative women in age, duration and severity of diabetes and in metabolic control throughout pregnancy. Pregnancy induced hypertension (PIH) and intrauterin growth retard (IUGR) were observed in 6/12 aPL positive and in only 2/23 aPL negative patients (p < 0.02). A pathological increase in D-dimer levels occurred in 6/12 aPL positive patients and in none aPL negative (p < 0.03). The high frequency of aPL positivity and its strict relation to pregnancy complications strongly support a major role for an autoimmune pathogenetic mechanism in the occurrence of feto-maternal morbidity in IDD pregnant women. The identification of this subgroup at risk for complications may be clinically relevant.
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PMID:Antiphospholipid antibodies and pregnancy disorders in women with insulin dependent diabetes. 873 24

Gemfibrozil improves lipid and apolipoprotein profiles, particularly very low density lipoprotein (VLDL) triglyceride and high density lipoprotein (HDL) cholesterol levels, in patients with dyslipidaemia when administered at a total daily dose of 900 or 1200 mg. As demonstrated by the Helsinki Heart Study, these effects result in a reduction in some risk factors for coronary heart disease (CHD) and also a 34% reduction in the incidence of this disease after 5 years compared with placebo. Limited data suggest that gemfibrozil has beneficial effects on the fibrinolytic system and may slow the progression of atherosclerosis. Gemfibrozil has shown efficacy in the treatment of patients with type IIa, IIb, III, IV or V dyslipidaemia or hypoalphalipoproteinaemia, especially in patients with elevated triglyceride and low HDL cholesterol levels. It is also effective in patients with non-insulin-dependent diabetes mellitus (NIDDM) and dyslipidaemia and has no detrimental effects on glycaemic control. A small number of studies also showed gemfibrozil to be effective for the control of dyslipidaemia associated with renal failure, transplantation, nephrotic syndrome, arterial occlusive disease or systemic lupus erythematosus. However, patients with pre-existing CHD do not appear to derive the same benefits (reduced CHD mortality) from gemfibrozil therapy as these other patients, although results are based on studies of limited size and number. In general, gemfibrozil has at least similar efficacy to bile acid sequestrants and other fibric acid derivatives. Comparisons with HMG-CoA reductase inhibitors show these agents to produce different effects on lipid profiles from gemfibrozil. Thus, gemfibrozil would be expected to be superior in some patients (those with elevated triglyceride or VLDL cholesterol levels), but HMG-CoA reductase inhibitors should have greater benefits in those with elevated low density lipoprotein cholesterol levels. Thus, in patients with elevated triglyceride levels and low HDL cholesterol levels, and, particularly in patients with NIDDM, gemfibrozil is a useful treatment option, which has been shown to reduce the risk of CHD in middle aged men. However, limited available data prevents the accurate comparison of this agent with HMG-CoA reductase inhibitors in patients with this lipid profile.
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PMID:Gemfibrozil. A reappraisal of its pharmacological properties and place in the management of dyslipidaemia. 873 20

GM and KM immunoglobulin (Ig) allotypes and their interactions with HLA antigens have been analyzed in various autoimmune diseases: multiple sclerosis, rheumatoid arthritis, insulin-dependent diabetes mellitus (IDDM), systemic lupus erythematosus, coeliac disease, Crohn's disease, Graves' disease, atrophic thyroiditis, Hashimoto's thyroiditis, myasthenia gravis, chronic active hepatitis, alopecia areata, uveitis, vitiligo, Turner's syndrome, glomerular nephritis, Berger's disease and idiopathic dilated cardiomyopathy. This review reports published results about associations or linkages, as well as the origins of the populations, the numbers of patients and controls tested. The possible role of Ig polymorphisms in the physiopathology of autoimmune diseases is discussed. Ig allotypes and statistical methods used to analyse the HLA and Ig data are also described.
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PMID:Immunoglobulin allotypes (GM and KM) and their interactions with HLA antigens in autoimmune diseases: a review. 878 16

The cause of toxic oil syndrome (TOS) has not yet been definitively determined, but some genetic susceptibility factors (certain HLA antigens and female sex) have been identified in 236 patients. Similarities with genetic factors for scleroderma and hydralazine-induced lupus (i.e. in TOS female sex and HLA-A24, Pcorrected = 0.00001 and DR4, Pcorrected = 0.04, respectively) may provide a clue to the responsible xenobiotic and its pathogenesis, and may also help in understanding the basis of the related eosinophilia-myalgia syndrome associated with tryptophan ingestion. In this paper it is also established that a human class I antigen (HLA-A24) and, independently, an HLA class II haplotype (DR4-DQ8, Pcorrected = 0.04) and arginine 52 in the alpha-DQ chains (Pcorrected = 0.03) are associated with TOS susceptibility, similarly to insulin-dependent diabetes. This further supports the classification of TOS as an autoimmune disease. Also, the increased frequency of a particular set of low-frequency HLA class I antigens in chronic TOS patients (i.e. B27, B37, B38 and B49) and the probable decrease in the frequency of HLA-B homozygotes in surviving patients (Pcorrected = 0.008) may provide an objective model to explain the maintenance of the HLA polymorphism: less frequent HLA alleles may be more advantageous in the event of unexpected human contact with unusual xenobiotics (not only microbes); however, other mechanisms working together to preserve and generate HLA polymorphism may coexist.
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PMID:Frequencies of HLA-A24 and HLA-DR4-DQ8 are increased and that of HLA-B blank is decreased in chronic toxic oil syndrome. 880 34

Celiac disease (CD) is an immune disease triggered by the cereal antigen gliadin, resulting in villous atrophy in the small intestine. Susceptibility to the development of CD is strongly influenced by genes in the major histocompatibility complex, in particular alleles of the DQ genes in the class II region. However recent evidence has suggested that the major histocompatibility complex (MHC) class III region may be linked to celiac disease independently of the class II region. Among the genes located in this area is TNF-alpha, which encodes the cytokine tumor necrosis factor-alpha which has a broad range of pro-inflammatory, immunomodulatory and catabolic activities. Therefore, aberrant expression of TNF-alpha could be important in the pathogenesis of MHC-associated immune disorders. A TNF-alpha variant with a polymorphism in its promoter region has been described and designated TNF2. TNF2 has been associated with a variety of MHC-linked diseases, including systemic lupus erythematosus, dermatitis herpetiformis and insulin-dependent diabetes mellitus (IDDM), as well as parasitic infections. TNF2 has previously been shown to be associated with the MHC haplotype HLA A1-B8-DR3-DQ2, which confers susceptibility to CD. We have analyzed the distribution of TNF2 alleles in a group of celiac patients (n = 52) compared to controls (n = 52) in an effort to evaluate its role, if any, in susceptibility to the condition. TNF2 has a frequency of 0.5000 (SE +/- 0.0490) in CD, compared to 0.1635 (+/- 0.0362) in a control sample (p < 10(-6)). Of 52 patients, 44 carried one or more TNF2 alleles. Analysis indicates that the distribution of TNF2 is best explained by assuming 100% allelic association between it and HLA-DQB1*0201 (frequency = 0.7791 +/- 0.0447). However, the number of TNF2 heterozygotes significantly exceeds expectations and measurements of linkage disequilibrium confirm that allelic associations spanning the DQ and TNF regions are strongly maintained in CD. Taken together, these results indicate that TNF2 may have a role in the pathogenesis of CD; however, since it is not an independent association, the possibility that TNF2 constitutes a passive component of the CD haplotype cannot be excluded.
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PMID:TNF2, a polymorphism of the tumour necrosis-alpha gene promoter, is a component of the celiac disease major histocompatibility complex haplotype. 881 55

Kidney involvement in immuno-mediated diseases is a life threatening complication to be early detected. Glomerulo-tubular functional indices, kidney-released enzymes and metabolic profiles were assessed in 21 patients with systemic lupus erythematosus, progressive systemic sclerosis and mixed cryoglobulinaemia, without overt nephropathy at a current laboratory examination, and in 31 age-sex-matched healthy controls. All patients had a urinary total protein excretion rate higher than controls (353.6 +/- 182.4 vs 243.0 +/- 108.2 mg/24 h, p < 0.01); 12 of them resulted albuminuric (775.5 +/- 1192.4 mg/24 h), while 9 were normoalbuminuric (16.6 +/- 7.6 mg/24 h). Urinary enzyme excretion rates (GGT and NAG) were significantly heightened compared to healthy subjects, both in albuminuric and in normoalbuminuric patients. Serum albumin resulted significantly lower in all patients, independent of their urinary albumin leakage. Finally, all subjects with connective tissue diseases had significantly higher triglycerides, lower HDL cholesterol and double serum fasting insulin than normals. In conclusion, all patients with collagen diseases show signs of subclinical nephropathy, not always detectable by albuminuria. They also provide evidence of insulin-resistance, a conceivable forerunner of cardiovascular complications.
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PMID:An early diagnosis of kidney involvement in immunologically-mediated multisystem diseases. 892 70

Type 1 (insulin-dependent) diabetes mellitus is associated with long-term vascular complications. In addition to metabolic factors, immunological and haemostatic mechanisms may be involved. Lupus anticoagulant (LA), an immunoglobulin which interferes with endothelial cell function, is frequently associated with a high risk of thromboembolic events. LA has been described in several diseases but never in diabetes mellitus. The aim of this study was to evaluate if endothelial dysfunction and unmodulated haemostasis are amplified by the presence of LA in Type 1 diabetic patients. Plasma samples collected from clinically and biochemically well-characterized Type 1 diabetic patients were examined for LA, fibrinogen, prothrombin (PT), PTT, prothrombin degradation products (F1 + 2) and activated protein C (APC). The results revealed significantly decreased APC and increased F1 + 2 plasma concentrations in LA-positive but not in LA-negative patients; 60% of LA-positive and only 18% of LA-negative patients had microangiopathy (not significant). No thrombotic episodes in large vessels were found in LA-positive patients. These findings suggest that LA could be considered an additional factor in the onset and/or progression of diabetic complications, acting as a link between the immunological and haemostatic systems in the pathogenesis of diabetic microangiopathy.
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PMID:Diabetic microangiopathy: lupus anticoagulant dependent thrombotic tendency in type 1 (insulin-dependent) diabetes mellitus. 904 90

The human TNF genes are located within the MHC class-III region on chromosome 6. The presence or absence of an Nco-I restriction site in the 5' non-coding sequence of the TNF beta gene defines two alleles (TNFB*1 and TNFB*2). The segregation of these alleles has been associated with levels of TNF alpha or TNF beta production in systemic lupus erythematosis (SLE), insulin-dependent diabetes mellitus (IDDM) and in healthy control individuals. Rheumatoid arthritis (RA) is characterized by high levels of TNF alpha within the synovial fluid and to address the question of whether this could be brought about by a genetic predisposition to high TNF production by RA individuals, we examined the distribution of this Nco-I polymorphism in 98 healthy volunteers and 123 patients with active rheumatoid arthritis. No difference was observed between the normal and RA groups with respect to haplotype segregation or allelic frequency. Furthermore, no difference was observed between DR4+ or DR4- individuals in the control or RA groups. These data demonstrate that the high level of TNF alpha seen in the joints of RA patients is unlikely to be due to a genetic predisposition of these patients to high TNF alpha production, as defined by the TNF Nco-I restriction fragment length polymorphism (RFLP).
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PMID:TNF Nco-I RFLP is not an independent risk factor in rheumatoid arthritis. 909 56

Acanthosis nigricans, insulin receptor antibody, and systemic lupus erythematosus are associated in the potentially lethal syndrome of type B insulin resistance. Hyperpigmentation has been reported rarely, while glucose intolerance is common in these patients. We report an adolescent girl with acanthosis nigricans, hyperpigmentation, insulin receptor antibody, and systemic lupus erythematosus without glucose intolerance. Insulin resistance may be mild or transient in some patients with type B insulin resistance. Resolution of skin lesions was noted during therapy of SLE, and was associated with disappearance of insulin receptor antibody.
Lupus 1997
PMID:Systemic lupus erythematosus with acanthosis nigricans, hyperpigmentation, and insulin receptor antibody. 910 36


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