1,720,978 research outputs found
Lesch-Nyhan syndrome: Observations on a clinical case [La sindrome di Lesch-Nyhan: osservazione di un caso clinico]
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Clinical report of a case of CREST syndrome [Osservazione clinica di un caso di sindrome CREST]
No full textA case of CREST syndrome presenting with marked diffuse calcinosis and prevailing joint involvement is presented by the authors. Diffractometry revealed the presence of calcified hydroxy-apatite crystals within subcutaneous nodules. Scleroderma-like microcirculatory changes with blood flow alterations typical of Raynaud's syndrome were present on capillaroscopy. The authors feel the case to be of interest not only in view of the rare occurrence of the condition but also of the particular extent and severity of the signs and symptoms presented by this patient
Plasma levels of apolipoprotein and HDL-cholesterol in patients with rheumatoid arthritis
No full textThe authors have examined the levels of the plasma cholesterol and triglycerides, of the plasma lipoproteins (HDL, LDL, VLDL) and of their main apolipoproteins (apo-A and apo-B) in a group of 64 patients affected by RA and in a population of healthy subjects considered as a contrast group, trying to establish a plausible dislipidemic factor which could justify the major occurrence of coronary heart disease in those patients suffering from RA. Statistical analysis was done with the T-test. There are not differences in the lipoprotein pattern between the group of patients affected by RA and the population of healthy subjects. The obtained result seem to exclude that such a major occurrence of coronary heart disease in the patients suffering from RA may be linked to the alteration of lipidic metabolism
Determination of the rheumatoid factor in gouty patients [Determinazione del fattore reumatoide in pazienti gottosi]
No full textThe authors have examined the incidence of the rheumatoid factor in the serum of a group of 100 patients, 95 males and 5 females, suffering from gout, of whom only 6 suffered from chronic gout. The rheumatoid factor in the serum was measured by RA-test (1:40) and by Waaler-Rose test (1:32). The rheumatoid factor was not present in the examined subjects and so we can state that such serum parameter does not represent, for its negativity, a laboratory index of any evidence in the gout and it doesn't represent a reason for diagnostic doubts with other forms with the rheumatoid factor in the serum
M2-specific anti-mitochondrial antibodies, positive on Hep-2 cells and negative on triple tissue: Indications for a correct diagnostic strategy [Anticorpi anti-mitocondri con specificità M2, positivi su cellule HEp-2 e negativi su triplo tessuto: indicazioni per una corretta strategia diagnostica]
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Autoantibodies against the autophagic protein microtubule-associated light-chain 3 (LC3): Immunocharacterization of an atypical ANA pattern
No full textAutoantibodies to nuclear and cytoplasmic antigens are commonly detected by indirect immunofluorescence (IIF) on HEp-2 cells, and three major staining patterns (nuclear, cytoplasmic, and mitotic) are distinguished. Here, we report an atypical cytoplasmic pattern, not described so far, observed in the serum of a patient with a controversial diagnosis of systemic lupus erythematosus (SLE). Moreover, for the first time, we have revealed the presence of autoantibodies against the microtubule-associated light-chain 3 (LC3) protein, which plays a key role in the autophagic process. The target antigen has been identified in IIF by means of a competition test using purified anti-LC3 antibodies on HEp-2 cells, and confirmed by Western blot analysis using cellular or recombinant LC3 as antigen, immunoreacted with the patient's serum. The identification of this atypical pattern and the related autoantibody-antigen system sheds new light on autophagy, which is increasingly considered to be involved in the etiopathogenesis of autoimmune disorders, and could contribute to select more personalized therapies
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