83 research outputs found
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Upadacitinib effectiveness and factors associated with minimal disease activity achievement in patients with psoriatic arthritis: preliminary data of a real-life multicenter study
Background: Upadacitinib (UPA) is a selective JAK inhibitor recently approved for the treatment of psoriatic arthritis (PsA). In this post-approval study, we aimed to evaluate the effectiveness and safety of UPA over 24 weeks and identify clinical predictors of response, in a multicentric cohort of patients affected by PsA. Methods: One hundred and twenty-six patients with PsA treated with UPA were enrolled in 10 Italian centres. UPA effectiveness outcomes, such as the proportion of patients with MDA status, DAPSA remission, and low disease activity, ASDAS-CRP inactive and low disease activity, and change from baseline in DAPSA and ASDAS-CRP scores, were evaluated every 12 weeks until week 24. The proportion of DAPSA minor, moderate, and major improvement, and ASDAS clinically important improvement (CII) and major improvement (MI) were considered as well. All treatment-related adverse events were collected during the observation period. Clinical predictors of MDA response at week 24 were evaluated through multivariate analysis. Results: At baseline, 124/126 (98%) and 54/126 (43%) patients showed peripheral and axial involvement, respectively; 110 (87%) patients were intolerant or resistant to biologic DMARDs. At 24 weeks, MDA status, DAPSA remission, and ASDAS-CRP inactive disease were achieved in 47%, 23%, and 48% of patients, respectively. Minor, moderate, and major DAPSA improvement was observed in 67%, 39%, and 23%, respectively; while 65% and 35% achieved ASDAS-CRP CII and MI, respectively. The mean change from baseline was 15.9 ± 13.5 (p < 0.001) for DAPSA and 1.21 ± 0.97 (p < 0.001) for ASDAS-CRP. Thirteen patients (10%) discontinued UPA due to a lack of efficacy or non-serious adverse events. No serious adverse events were observed. Male gender (OR 2.54, 95% CI 1.03-6.25 p = 0.043), being naïve to biological DMARDs (OR 4.13, 95% CI 1.34-12.71, p = 0.013) and elevated baseline CRP (OR 2.49, 95% CI 1.02-6.12, p = 0.046) were associated with MDA response at week 24. Conclusions: This is one of the first real-life studies supporting the effectiveness of UPA and its safety profile in PsA patients. Furthermore, the study identifies predictors of MDA response to UPA treatment at 6 months
Acute myocarditis and left ventricular aneurysm as presentations of systemic lupus erythematosus.
A case of systemic lupus erythematosus (SLE) associated with fever, heart failure, and left ventricular (LV) aneurysm is reported. A diagnosis of SLE was suspected owing to the presence of active lymphocytic myocarditis and fibrinous endocarditis at LV endomyocardial biopsy and was confirmed by identification of 4 of the 11 criteria proposed by the American Rheumatism Association for the definition of SLE. A 2-month period of steroid therapy was followed by a remarkable recovery of LV function and progression of endomyocarditis to a healed phase at control LV biopsy. The LV aneurysm disappeared, likely because thrombosis occurred as a result of the hypercoagulable state accompanying the presence of anticardiolipin antibodies. This is the first reported case of LV aneurysm induced by SLE and is a rare clinicohistologic documentation of the effectiveness of steroid treatment on lupus endomyocarditis
[Amyloidosis in a mixed pattern. Sensitivity to colchicine and melphalan].
The Authors describe a case of systemic amyloidosis with hepatic renal, intestinal and presumably cardiac involvement in the course of multiple myeloma (light K chain type). Notwithstanding the presumptions of the pathogenesis of amyloidosis and the capacity of colchicine to inhibit amyloid synthesis in rats treated with casein, the form in question derived little benefit from the association of colchicine (0.5 mg t.i.d.) and Melphalan (cycles of 4 days every 6 weeks - 0.25 mg/Kg/die)
[Ectopic calcifications in adult hypophosphatasia].
The first case of hypophosphatasia in adults reported in Italy (20th in the world) is described with remarks on the epidemiology, pathogenesis and therapeutic possibilities. The formation of renal and cholecystic calculi after long-term, intensive vitamin D and Calcium therapy indicates the limited capacity of pyrophosphate (PPi), even in large doses, to prevent the precipitation in man of calcium and phosphorus and the subsequent formation of ectopic calcifications
Giant cell myocarditis responding to immunosuppressive therapy
An unusual case of giant cell myocarditis presenting with cardiogenic shock that dramatically responded to conventional dose of steroids and azathioprine is reported. Cardiac recovery was rapid, complete (left ventricular ejection fraction rose to 55% from 10%), and was accompanied bq the disappearance of the inflammatory infiltrates including giant cells in the control endomyocardial biopsy. Maintenance of the recovery at 16 months of follow-up on a low dose of azathioprine suggests that giant cell myocarditis might be a heterogeneous disease having either a negative untreatable trend necessitating cardiac transplantation, or a curable substrate responding to immunosuppressive drugs
Mycotic pollution prevention in the indoor environments // Il controllo del rischio da miceti negli ambienti confinati
The increasing time spent in indoor environment is related to an increase in respiratory and allergic diseases due, in part, to mycetes. Mycetes contamination (mainly by Cladosporium, Penicillium, Alternaria, Streptomyces) regards homes, offices, hospitals and other industrial buildings and is favoured using cellulose products in environments with relative humidity >70% and scarce ventilation. Literature suggests a standard of 500 cfu/m3 for homes, but guidelines for other indoor environments, hospitals included, are not available. The authors describe the commonest mycetes' reservoir and conclude offering some guidelines for the mycetes pollution prevention in the indoor environments
Modulating effect of omega-3 fatty acids on the proliferative pattern of human colorectal mucosa.
The use of biomarkers to assess cancer risk is based on the model of cancer as a multistep process; such markers are assumed to reflect an early stage in this process. A valid biomarker of risk must therefore show differential expression in normal and high-risk subjects, as well as quantitative correlation with the stage of carcinogenesis. It should also be easy to detect in small tissue specimens and responsive to modulation by chemopreventive agents. Cell proliferation is one of the most widely investigated markers of cancer risk. Case-control studies have shown that epithelial cell proliferation parameters, assessed in rectal mucosal biopsies by means of in vitro autoradiographic or immunohistochemical techniques, can discriminate between populations with normal and high risks for colon cancer. However, we recently reviewed rectal biopsies from 152 subjects (43 controls, 84 with adenomas, 25 resected for colon cancer) processed for in vitro 3H-thymidine autoradiography, and attempted to correlate various proliferative parameters with clinical and pathological variables by means of multiple regression analysis
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