Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients from two families with complete hereditary deficiency of the fourth component of complement (C4) and systemic lupus erythematosus are described. The syndrome presented by these patients is characterized by early onset in life; exquisite sensitivity to sunlight and to cold exposure, the latter resulting Raynaud's phenomenon; and skin lesions involving not only exposed areas of the body but also palms and soles and presenting as butterfly rashes, maculopapular eruptions, and lesions similar to those of chronic discoid lupus erythematosus, with marked scaling, atrophy, and scarring. Lupus erythematosus (LE) cell tests were negative and antinuclear antibody (ANA) titers low or negative. The male patient of our series died at the age of 31/2 years from septicemia, whereas the two girls, aged 18 and 11 years, respectively, were alive at the time of writing. The C4-deficient gene is associated with HLA-Aw32, Bw38, and Bf S in one family and with HLA-A30, B18, DR7, and Bf S1 in the other family; the latter is the second family in which this HLA haplotype has been found to be associated with hereditary C4 deficiency.
 ...
PMID:Systemic lupus erythematosus in hereditary deficiency of the fourth component of complement. 617 71

A middle-aged woman had five discrete episodes of herpes zoster. The first attack consisted of uncomplicated herpes zoster ophthalmicus. The subsequent four episodes involved thoracic, cervical, and finally sacral dermatomes and were complicated by myelitis or encephalomyelitis. During the most recent attack, while she was receiving corticosteroids, varicella-zoster virus was cultured from the CSF. In addition, the patient had strong evidence of systemic lupus erythematosus, with a history of Raynaud's phenomenon, migratory arthralgia, and unexplained anemia before the first attack of zoster with subsequent development of a positive lupus cell preparation and elevated antinuclear antibody levels.
 ...
PMID:Recurrent herpes zoster encephalitis. A complication of systemic lupus erythematosus. 625 12

A genetically determined complete absence of the fourth component of complement, C4, associated with systemic lupus erythematosus has been detected in one member of another family. Observations made in this patient, the ninth described so far in whom systemic lupus erythematosus and C4 deficiency occur have confirmed that this condition presents with a characteristic clinical picture: there is pronounced sensitivity to sunlight and to cold with Raynaud's phenomenon; skin lesions are found predominantly in locations typical for subacute cutaneous lupus erythematosus and, remarkably, on the palms and soles. As was the case in two families described earlier, the C4-deficient gene was associated with the HLA-haplotype AW30, B18, DR7; BfS1.
 ...
PMID:[Systemic lupus erythematosus in hereditary complement 4 deficiency]. 670 71

Antinuclear antibody (ANA) test results were correlated with the clinical status of 56 patients with systemic scleroderma. Three groups were identified. (1) The speckled pattern represented a benign clinical subset. Acrosclerosis, Raynaud's phenomenon, calcinosis, and esophageal dysmotility characterized this group. None of these patients had pulmonary, renal, or cardiac disease. (2) Two patterns and ANA-negative test results were associated with a different incidence of certain clinical characteristics. The thready pattern was associated with pulmonary involvement. Diffuse skin involvement and Raynaud's phenomenon were found with the nucleolar pattern. Patients with ANA-negative test results had the most severe disease, including renal failure. (3) Two patterns were not associated with different clinical characteristics. These were the small speckle-like thready pattern and the homogeneous pattern. This study supports the theory that ANA patterns may be used as immunologic markers for different clinical characteristics of patients with scleroderma as they have already been used in lupus erythematosus.
 ...
PMID:Antinuclear antibodies as immunologic markers for a benign subset and different clinical characteristics of scleroderma. 675 66

30 specimens of nail fold biopsies have been studied through light and electron microscopy, and direct immunofluorescence, in 26 cases of connective tissue diseases: Raynaud's phenomenon and acrosclerosis (7 cases), systemic scleroderma (10 cases), chronic and acute lupus erythematosus (4 cases), dermatomyositis (5 cases). Numerous tissular changes have been observed by these three different ways: capillaries dilatations, dermal sclerosis, numerous, large, dermal and epidermal colloid bodies, basal lamina replications, collagen's modifications, tubuloreticular inclusions, crystalloid bodies, lysosomial inclusions, immunoglobulins deposits. Thus proximal nail fold appears to be an elective tissular area for collagen diseases study.
 ...
PMID:[Proximal nail fold biopsy in connective tissue diseases. 26 cases studied under light and electron microscopy and direct immunofluorescence (author's transl)]. 700 11

An increased prevalence of classical migraine was found in 30 female patients with systemic lupus erythematosus (SLE) compared with an age and sex-matched control group by means of a detailed questionnaire. No significant difference were found between the patients and controls, who had classical and common migraine or visual auras without headache, with regard to a family history of migraine, the age of onset of the migraine, Raynaud's phenomenon, or use of oral contraceptives. Increased activity of the lupus was not generally associated with an increase in migraine attacks. It is suggested that migrainous phenomena may be a feature of SLE.
 ...
PMID:A study of migraine in systemic lupus erythematosus. 706 26

The changing patterns of clinical features and prognosis of 307 Japanese patients with systemic lupus erythematosus (SLE) were studied. SLE patients with Raynaud's phenomenon, alopecia and oral ulceration increased significantly in Group B (1970-1979) compared to Group A (1955-1969). It was noted that SLE patients with LE cells were significantly fewer in Group B and in Group A. The prognosis of Group B was significantly improved over that of Group A. There was a significant decline in deaths caused by uremia and central nervous system lupus in Group B.
 ...
PMID:Changing patterns in the clinical features and prognosis of systemic lupus erythematosus - a Japanese experience. 712 Feb 33

Endothelial cell damage in systemic lupus erythematosus (SLE) was evaluated by measuring fibrinolytic activity and von Willebrand factor levels. Tissue-type plasminogen activator (t-PA) antigen, plasminogen activator inhibitor (PAI) activity, and von Willebrand factor antigen (vWF:Ag) and activity (vWF:RCof) were measured in 21 SLE patients (12 of whom were therapy free) and 22 controls. In addition, the relationship between such parameters and Raynaud's phenomenon, disease activity [according to personal criteria, Systemic Lupus Activity Measure (SLAM) and European Consensus Lupus Activity Measurement (ECLAM) scores] inflammatory indices [ESR, C-reactive protein (CRP), alpha 2-globulin], anticardiolipin antibodies and corticosteroid therapy was investigated. Lower levels of t-PA antigen (P = 0.003) and higher levels of vWF:Ag (P = 0.001) were found in SLE patients in comparison with controls. Moreover, t-PA antigen was lower (P = 0.02) in steroid-free patients in comparison with those taking steroids. No relationship was found between fibrinolysis and coagulation abnormalities and Raynaud's phenomenon, disease activity, inflammatory indices and anticardiolipin antibodies. Endothelial cell damage is probably a common feature in SLE patients; nevertheless, we were unable to clarify the nature of such abnormality. It is worth noting that low doses of steroids seem to be effective in improving endothelial cell function in SLE patients.
 ...
PMID:Fibrinolysis and coagulation abnormalities in systemic lupus erythematosus. Relationship with Raynaud's phenomenon, disease activity, inflammatory indices, anticardiolipin antibodies and corticosteroid therapy. 772 97

Anticardiolipin antibodies (aCL) are found in about 40-50% of patients suffering from systemic lupus erythematosus (SLE) and their presence carries an increased risk of thromboembolism. Since there is a high prevalence of nailfold capillary abnormalities in patients with SLE, we studied the relationship between aCL and skin microcirculatory changes or vascular symptoms in 51 consecutive patients with SLE (49 women, 2 men, 34.8 +/- 13.7 years). Twenty-two patients (43.1%) had positive aCL (IgG 22 (5-60) GPL; IgM 5 (3-16.5) MPL; median titre and range) and 12 (54.5%) of them had abnormal capilloscopic findings. By contrast, among the 29 patients without aCL, only six (20.7%) had an abnormal capillaroscopy (P = 0.027). There was no correlation between either aCL or capillaroscopy and Raynaud's phenomenon. These results show a relationship between aCL and nailfold capillary changes in patients with SLE, suggesting a direct damage of the vascular endothelium by aCL.
Lupus 1995 Apr
PMID:Association of anticardiolipin antibodies and abnormal nailfold capillaroscopy in patients with systemic lupus erythematosus. 779 18

An autopsied case of systemic lupus erythematosus with pulmonary hypertension is reported. A 29-year-old woman with a seven-year history of polyarthralgia, butterfly rash, nephrotic syndrome and Raynaud's phenomenon was admitted because of progressive dyspnea on exertion. Tests for antinuclear antibody, anti-cardiolipin antibody and lupus anticoagulant were positive. Echocardiographic examination revealed right ventricular hypertrophy and a moderate pericardial effusion. Estimated systolic pulmonary arterial pressure was 53 mmHg. Despite treatment with corticosteroids including pulse methylprednisolone therapy, lipo-PGE1 and warfarin, she died of progressive congestive heart failure. Postmortem examination of the pulmonary vasculature revealed findings consistent with plexogenic pulmonary arteriopathy, without evidence of vasculitis, fibrinoid necrosis, or thromboemboli.
 ...
PMID:Pulmonary hypertension in systemic lupus erythematosus: a report of an autopsied case. 800 Jan 4


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