Amyloidosis in a series of 964 Portuguese rheumatoid arthritis patients: comment on the article by Myllykangas-Luosujärvi et al.
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Biomedical subjects
Publications and source records attributed to C Resende.
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UNLABELLED: The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. CONCLUSION: Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the differential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.
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Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.
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Gallstones and alcohol are the most important causes of acute pancreatitis, accounting for 80% of cases. One hundred and four cases of Acute Gallstone Pancreatitis were retrospectively studied, representing 39.5% of all cases of Acute Pancreatitis that have been treated between 1990-93. Abdominal ultrasound, demonstrating gallstones in 95% of the cases, was a very useful examination in the initial study of these patients. ERCP with sphincterotomy was performed in 25 patients: 6 in a urgent basis and the others as elective procedure. Gallstones have been treated during the initial admission in 80.6% of the cases and the others at a second admission: ERCP with sphincterotomy in 14 patients as the only etiologic treatment, open cholecystectomy in 50 cases and laparoscopic cholecystectomy in 29 cases. The overall mortality rate was 3.8%--four cases.
The association of alpha-1 antitrypsin deficiency (PiZ phenotype) with systemic nodular panniculitis has been well documented. Despite reports of cases of systemic nodular panniculitis associated with other alpha-1 antitrypsin deficiency phenotypes, it is still not known if this association is fortuitous rather than causal. We report a case of systemic nodular panniculitis associated with alpha-1 antitrypsin deficiency (PiSS phenotype), with clinico-pathological features similar to those reported in cases associated with the PiZ phenotype.
BACKGROUND: Toxic epidermal necrolysis (TEN) is a life-threatening disease with severe mucocutaneous shedding. Although it is widely accepted that immune mechanisms are at play, the pathophysiology of TEN is still unknown. We studied the blister fluid inflammatory cells in three drug-related cases to further define the suspected T-cell involvement in TEN. OBSERVATIONS: A peripheral blood lymphopenia, especially of CD4+ T lymphocytes, was associated with a high lymphocytic cellularity of the blister fluid. In two cases, immunophenotyping of blister fluid lymphocytes showed a predominance of the CD8 phenotype. Furthermore, using two-color flow cytometry in one patient, we could show the predominance of CD8+ CD29+ lymphocytes and CD45RA- negative cells. CONCLUSIONS: Our findings point to a cutaneous recruitment of antigen-primed and cytotoxic T cells in TEN, further supporting the involvement of CD8+ lymphocytes in TEN pathogenesis and its immune mediation.
The classical treatment of severe forms of dermatomyositis includes high doses of steroids and/or cytotoxic agents. Acute forms are frequently life threatening. Because cyclosporine is a fast-acting immunosuppressive drug, it appears to be a good candidate for the treatment of refractory forms of acute dermatomyositis. We report a dramatic improvement of a severe, acute, steroid-resistant adult form after cyclosporine administration. A rapid clinical and biochemical improvement is reported, and the reversibility of immunologic abnormalities is emphasized.
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We present a four year old boy with Björnstad syndrome. The hair showed typical features of pili torti which were confirmed by optical and scanning electron microscopic evaluation. On computerized X-ray diffraction the hairs showed no abnormal constituents. There was a serious bilateral sensorineural deafness.
We reviewed our experience with computerized tomography (CT) of the abdomen in 212 patients with histologically documented liver neoplasms seen during a 30-month period. The CT findings in cavernous hemangioma and focal nodular hyperplasia were specific, and permitted accurate diagnosis of this lesion before biopsy. The CT appearance of all other lesions was variable. We consider CT useful in providing an accurate evaluation of the intrahepatic and extrahepatic extent of the neoplasm.
The ultrasturctural changes induced in the cells of the young rat adrenal zona fasciculata by cycloheximide are studied. Thirty minutes after administration of doses producing inhibition of protein synthesis (1.5 and 4.5 mg/kg body weight) there was a significant increase in the relative volume of the nucleolus, as shown by stereologic methods, which was accompanied by extensive perinucleolar chromatin caps. In the cytoplasm, membranous whorls were observed in several organelles and the background cytoplasm, but the volume fractions of the organelles were not significantly altered. Nucleolar changes were interpreted as suggesting that the inhibition of cytoplasmic protein synthesis may be accompanied by an enhanced formation of nucleolar proteins.
OBJECTIVE: Routine histologic techniques are still the main procedure in the study of the synovial biopsy. The relationship between the typical histological changes of rheumatoid synovium and clinical manifestations has not been studied in detail. METHODS: With the aim of determining whether a simple semiquantitative method of evaluating the changes in closed synovial biopsies was of clinical value in assessing both the diagnosis and prognosis of rheumatoid arthritis (RA) patients, we evaluated retrospectively 72 synovial biopsy specimens (26 RA patients, 30 patients with other inflammatory diseases and 16 osteoarthritis patients). Scores (0-10) were assigned to each biopsy specimen for each of 6 histologic features: synoviocyte hyperplasia; fibrosis in the subsynovial layer; proliferating blood vessels; perivascular infiltrates of lymphocytes; focal aggregates of lymphocytes; and diffuse infiltrates of lymphocytes. Scores were compared between the 3 groups and also between the RA subgroups with early and late disease; positive and negative rheumatoid factor; with and without joint erosions; and with and without systemic disease. RESULTS: Significant differences in the mean global score (mean of the 6 scores) were found both between RA and osteoarthritis and between other inflammatory diseases and osteoarthritis (p < 0.01). The mean global score for RA was higher than the mean global score obtained for the other inflammatory diseases, but the difference was not significant. We found a significantly higher mean global score in the RA patients with erosions in comparison to the RA patients without erosions, this difference being particularly evident for the lymphocyte perivascular infiltrate (p < 0.05). There were no significant differences between the other RA subgroups. CONCLUSION: In this study we have identified differences, using routine histologic techniques, between the rheumatoid synovial membrane of patients with and without erosions. Based on our present observations we suggest that the intensity of inflammatory histological features and, in particular, a high percentage of vessels with perivascular lymphocyte infiltrate might be of prognostic value in RA.
The purpose of these Guidelines is to summarize the most relevant features of the pathogenesis, clinical presentation and treatment of psoriasis. Patient education should include the deleterious effects that some drugs, trauma, alcohol, infection and stress may have on psoriasis; the beneficial action of careful sunlight exposure should also be emphasized. Topical treatment--emollients, keratolytics, coal tar preparations, anthralin, corticosteroids, calcipotriol--is essential for the control of plaque-type psoriasis and is also an important adjuvant therapy in more severe cases; the relative strength and the potential adverse effects of topical steroids are also referred. UV therapy (phototherapy and photochemotherapy) is recommended for psoriasis with generalized plaque, guttate or palmoplantar psoriasis refractory to topical therapies. Systemic therapy--retinoids, methotrexate, cyclosporine--is limited to severe plaque psoriasis unresponsive to topical or UV therapy, erythrodermic, pustular or arthropatic psoriasis. Combination and rotational therapies are likely to reduce the risks of each individual therapy and should be encouraged. Finally, a few diagrams are included, pointing out the scientific validity of the therapies currently available to help clinicians to optimize their management of psoriasis.