Mode of inheritance in psoriasis.
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Biomedical subjects
Publications and source records attributed to N R Rowell.
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Seventeen patients with proven systemic sclerosis had a peroral jejunal biopsy performed. Four biopsies were regarded as showing abnormalities, which were mostly confined to the deeper structures, although in two there was a minimal degree of villous atrophy without epithelial cell changes. Passive intestinal permeability, as assessed by the cellobiose/mannitol test, was normal in all patients. In contrast, seven patients had a low xylose test result, which in five of them could be accounted for by impaired renal function, small intestinal bacterial contamination, or altered gastrointestinal transit. These results indicate that passive intestinal permeability is unaltered in systemic sclerosis, and that malabsorption, when it occurs, is caused by other factors.
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A patient developed a cutaneous deposit of leukaemic cells within a squamous cell carcinoma as the first presentation of acute myeloblastic leukaemia.
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Investigation of 92 patients with discoid lupus erythematosus, manifested initially by localized cutaneous lesions only, showed abnormal laboratory test results for 57 patients (62%) on admission and for 62 patients (67.4%) on review 16 to 20 years later. Patients with discoid lesions confined to the head and neck (DLE) showed fewer laboratory abnormalities than those patients with disseminated lesions involving trunk and limbs (disseminated discoid lupus erythematosus [DDLE]). Systemic lupus erythematosus (SLE) eventually developed in six (6.5%) of the patients, and all had shown persistent multiple abnormal laboratory findings from the beginning. Complete remission occurred in 46.7%. A persistent positive antinuclear factor of either speckled or homogeneous pattern with a titer greater than 1:50, leukopenia, thrombocytopenia, or a false-positive Wassermann reaction indicated those patients who may progress to DDLE or SLE.
Cell-mediated cytotoxicity was examined in thirty-seven patients with systemic sclerosis using both whole blood and purified peripheral blood mononuclear cells (PBM) to measure antibody-dependent (ADCC) and phytohaemagglutinin (PHA) induced lymphocyte cytotoxicity to 51Cr-labelled Chang liver cells. In twenty-three mildly affected patients, ADCC and PHA-induced cytotoxicity did not differ from that found in control populations. By contrast, fourteen patients severely affected by extensive visceral disease showed reductions in both ADCC and PHA-induced cytotoxicity which were more marked in whole blood assays (P less than 0.001) than in those performed with PBM (P less than 0.05). The addition of patient's sera to control cytotoxicity assays suggested that blocking or suppressive serum factors could only account for some of the disproportionate reduction in whole blood cytotoxicity which, in the main, must be due to a lack of circulating effector cells. These results are in agreement with previous findings of reduced numbers of circulating thymus-dependent lymphocytes in patients with severe disease, a defect of cell-mediated immunity that may result from the chronic antigenic stimulation of an autoimmune disease process.
Chilblain lupus erythematosus (LE) is a chronic unremitting form of LE ssen predominantly in women. It occurs commonly on the digits, calves and heels. Nasal lesions are rare. Chronic facial discoid LE usually appears before the chilblain form but, in most instances, resolves even though the chilblain lesions persists. Transformation to systemic LE occurs more often in those who develop both forms of cutaneous LE simultaneously and in the erythema multiforme syndrome. The chilblain lesions are the result of microvascular injury secondary to exposure to cold and possibly hyperviscosity from immunological abnormalities, Elevated serum gammaglobulins, positive latex factor and speckled pattern antinuclear factor are common. None of the usual treatments for cutaneous LE is effective for the chilblain lesions, probably because none is directed towards prevention and treatment of the microvascular stasis.
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Seventy-one patients with systemic sclerosis (SS) were typed for twenty-seven HLA alleles of the A and B loci, and the findings were related to both the extent of visceral disease and tests of cellular immune competence in a subgroup of fifty-two of these patients. Nineteen pa;ients with widespread visceral involvement and more rapidly progressive disease had an increased frequency of HLA-B8 (relative risk = 4.14; P less than 0.05) when compared to thirty-three less severely affected patients and 3000 controls. Patients with severe and progressive disease also had defective cell-mediated immunity with reductions in both the numbers of circulating thymus-dependent (T) lymphocytes and in the lymphocyte transformation response to phytohaemagglutinin. These findings suggest that a genetic factor, such as an abnormal immune response gene, may be involved in the progression of the disease.
Immunofluorescence techniques failed to reveal evidence of anti-tumour antibody in the sera of patients with basal cell carcinima. Although the presence of such antibodies has previously been associated with the absence of metastasis in malignant melanoma, other explanations for the low metaststic potential of basal cell carcinoma should be sought.
The periodontal membrane is markedly involved in about 30% of patients with systemic sclerosis and some widening occurs in about 20% of the teeth at risk. Thickening of the periodontal membrane is not specific to systemic sclerosis and can occur with clinically obvious chronic periodontal disease and, to a mild extent, in normal individuals in whom it mainly involves the coronal third of the teeth. In systemic sclerosis the whole root is more likely to be involved. There is no direct relationship in systemic sclerosis between widening of the periodontal membrane and other systemic changes, and prognosis.
A study of histocompatibility (HLA) antigens in 69 patients with discoid lupus erythematosus (DLE) showed an increased incidence of HLA-B7 and HLA-B8 related to the age at onset and sex of the patient. Young females and males aged 15-39 years at onset were associated with HLA-B7 and females aged over 40 years with HLA-B8. This supports previous studies concerning sex and age specific onset rates in DLE which suggests that there is more than one genotype in this disorder. Female patients with systemic lupus erythematosus (SLE) at all ages of onset showed a significant association with HLA-B8. Female patients, with onset 15-39 years, with either SLE or DLE which has transformed to SLE, show a significant increase in HLA-B8 compared with the females in the same age onset group who have the discoid disease. The presence of HLA-B8 in a young female with DLE may represent a risk factor for the development of the systemic disease.
Phytohaemagglutinin-induced lymphocyte transformation and circulating thymus-dependent (T) lymphocyte numbers were studied in twenty-eight patients with systemic sclerosis (SS), in fifty normal controls and eleven elderly controls. Patients with SS were found to have impaired lymphocyte transformation responses which showed a positive correlation with both the number of circulating T lymphocytes and the extent of visceral involvement by the disease. This defect of cell-mediated immunity could not be attributed to the effects of increasing age, corticosteroid treatment, iron and folate deficiency or inhibitory serum factors and may have pathogenetic implications for the disorder.