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Clin Dermatol ; 37(6): 668-674, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31864446


Adult-onset Still's disease (AOSD) is a rare, systemic, inflammatory disorder characterized by spiking fevers, an evanescent eruption, arthritis, and multiorgan involvement. The disease has been recently classified as a polygenic autoinflammatory disorder at the "crossroads" of autoinflammatory and autoimmune diseases. The highly characteristic salmon-colored eruption is a cutaneous manifestation of a generalized inflammatory reaction and an important diagnostic criterion. In addition to the evanescent eruption, there are atypical persistent papules and plaques in many patients with AOSD. Emerging data suggest that AOSD with this typical evanescent eruption has a different clinicopathologic presentation and clinical course than AODS with atypical cutaneous manifestations. It appears that there are two subtypes of AOSD with different immunologic profiles, including (1) a systemic disease with high fever, organ involvement, and elevated levels of ferritin, and (2) a chronic disease course with arthritis as the predominant finding. These observations provide novel insight into the disease pathogenesis, suggesting that the underlying mechanisms might differ between these two forms, partially explaining the reported differences in drug response. Recent advances in the understanding of AOSD are summarized with a focus on the spectrum of cutaneous manifestations and its relationship to systemic inflammation.

Pril (Makedon Akad Nauk Umet Odd Med Nauki) ; 39(2-3): 69-78, 2018 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-30864365


Rheumatoid arthritis is an inflammatory arthritis characterized by synovial tissue inflammation that leads to structural damage and disability. There are several treatment options available, which include glucocorticoids, DMARDs and biologics given alone as monotherapy or in a variety of combinations. Recent evidence has shown that early treatment is important in reducing the rate of progression of erosions and decreasing disability. The lack of adequate statistical data on number of patients that are eligible for first-line therapy/monotherapy of rheumatoid arthritis in Macedonia, triggered this epidemiological analyse describing eligible patients for first-line treatment/monotherapy distributed by gender, age and geographical allocation. The study was conducted by fulfilling a tailored questionnaire every two months in a period of six months (September 2017-February 2018) by including summarized data not related to personal data of patients nor specific drug information. The results have shown that a total of 115 patients in Macedonia are eligible for first-line therapy, whereby 54 (46%) patients were eligible for monotherapy of rheumatoid arthritis. Precise determination of these data provides patients' determination by geographical allocation and proper selection of the best treatment option and optimized therapy for each patient, furthermore when subcutaneous formulation of tocilizumab is available as an effective clinically proven treatment option for RA.

Anticorpos Monoclonais Humanizados/uso terapêutico , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Adulto , Distribuição por Idade , Anticorpos Monoclonais Humanizados/farmacologia , Antirreumáticos/farmacologia , Artrite Reumatoide/epidemiologia , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Distribuição por Sexo , Resultado do Tratamento
Rheumatol Int ; 33(11): 2885-8, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22955878


Tumour necrosis factor-alpha (TNF-α) inhibitors are widely used in the management of patients with rheumatoid arthritis (RA) and spondylarthritides. However, TNF-α inhibition may lead to adverse events, including liver injury. The RA patients are frequently treated with several potentially hepatotoxic drugs concomitantly; hence, a causative link between TNF-α inhibitors and liver injury is usually difficult to establish. We report two cases of RA patients who developed histologically manifest liver injury shortly after the introduction of treatment with two different TNF-α inhibitors. Furthermore, we present the analysis of the laboratory data from the registry (the Slovenian national registry of rheumatologic patients treated with biologicals) and provide evidence that elevated levels of serum aminotransferase can be observed in patients treated with TNF-α inhibitors. Additionally, our analysis suggests no significant differences between the impact of adalimumab and etanercept on aminotransferase levels. Although the use of TNF-alpha inhibitors is safe and efficient, we suggest that continuous careful monitoring of aminotransferase levels in patients treated with these agents is probably warranted.

Anticorpos Monoclonais Humanizados/efeitos adversos , Antirreumáticos/efeitos adversos , Artrite Reumatoide/tratamento farmacológico , Produtos Biológicos/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/diagnóstico , Adalimumab , Adulto , Anticorpos Monoclonais Humanizados/uso terapêutico , Antirreumáticos/uso terapêutico , Produtos Biológicos/uso terapêutico , Quimioterapia Combinada , Humanos , Isoxazóis/uso terapêutico , Leflunomida , Masculino , Metotrexato/uso terapêutico , Metilprednisolona/uso terapêutico , Sistema de Registros , Eslovênia , Sulfassalazina/uso terapêutico , Fator de Necrose Tumoral alfa/antagonistas & inibidores
Am J Med Genet A ; 146A(13): 1736-40, 2008 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-18546276


The patient is a 24-year-old woman who first came for consultation at age 10 years. Based on clinical phenotype and thin-layer chromatography of urinary oligosaccharides, peripheral leukocytes were sent for beta-galactosidase assay. This testing showed a deficiency in enzyme activity, and gene mutation analysis identified a previously reported mutation p.H281Y (875C > T) and a novel mutation p.W273R (817T > C). Unlike previously reported patients, mutant enzymes in this patient's cultured skin fibroblasts did not respond to treatment with a chaperone compound, N-octyl-4-epi-beta-valienamine.

Mucopolissacaridose IV/enzimologia , Mucopolissacaridose IV/genética , beta-Galactosidase/deficiência , beta-Galactosidase/genética , Adulto , Substituição de Aminoácidos , Feminino , Fibroblastos/efeitos dos fármacos , Fibroblastos/enzimologia , Hexosaminas/farmacologia , Humanos , Técnicas In Vitro , Mucopolissacaridose IV/patologia , Fenótipo , Mutação Puntual , Pele/efeitos dos fármacos , Pele/enzimologia