O que é a Doença de Pompe? A doença de Pompe é uma doença lisossomal de sobrecarga causada pela atividade insuficiente do ácido á-glucosidase.1 Esta enzima lisossómica é responsável pela degradação do glicogénio intralisossómico, o qual representa apenas uma pequena percentagem (1-3%) do glicogénio celular total. A deficiência enzimática resulta numa acumulação de glicogénio lisossomal em múltiplas [...]
Introduction Without much doubt, the most significant development in rheumatoid arthritis (RA) therapeutics during the past year has been the advancement of the first small-molecular agent in many years, the Janus kinase (JAK) inhibitor tofacitinib (Xeljanz™), to clinical use in the United States. Use in Europe is probably around the corner. The identification and detailed description [...]
Petra M. Pego, Inês Aguiar Câmara, José Pedro Andrade, João Matos Costa Abstract Introduction Polyarteritis nodosa (PAN) is a systemic necrotizing medium-size-vessel vasculitis with variable clinical manifestations. Diagnosis is confirmed by histology or angiography. The mainstay of treatment is corticosteroids alone or combined with cyclophosphamide (CYF). Case report Seventy-one-year-old female, follow-up started in 1997 at the age of 56 for suspected relapsing febrile viral exanthema. Skin biopsy [...]
Findings of a Phase IIIb, Multinational, Prospective, Randomized Study Michael E. Weinblatt, Michael Schiff, Robert Valente, Désireé van der Heijde, Gustavo Citera, Cathy Zhao, Michael Maldonado, and Roy Fleischmann Objective. There is a need for comparative studies to provide evidence-based treatment guidance for biologic agents in rheumatoid arthritis (RA). Therefore, this study was undertaken as the first head-to-head comparison of subcutaneous (SC) abatacept and SC adalimumab, both [...]
Palindromic rheumatism (PR) is usually defined as an inflammatory arthritis (IA), typically involving only a few joints and resolving over a short period of time. Multiple studies have shown that a proportion of patients with PR may develop persistent IA that can later develop into persistent disease classified as rheumatoid arthritis (RA; most common), systemic lupus [...]
Lara Heij, Marieke Niesters, Maarten Swartjes, Elske Hoitsma, Marjolein Drent, Ann Dunne, Jan C. Grutters, Oscar Vogels, Michael Brines, Anthony Cerami, Albert Dahan ABSTRACT ARA290, a peptide designed to activate the innate repair receptor that arrests injury and initiates cytoprotection, anti‐inflammation, and healing, reduces allodynia in preclinical neuropathy models. We studied the safety and efficacy of ARA 290 to [...]
Journal of Clinical Rheumatology, 2012-12-01
Background Paediatric systemic lupus erythematosus (pSLE) exhibits an aggressive clinical phenotype with severe complications and overall poor prognosis. The aim of this study was to analyse differential expression of low molecular weight (LMW) serum protein molecules of pSLE patients with active disease in comparison to sera of healthy age matched controls. Further, some of the differential expressed spots were characterised [...]
Introduction: Identification of patients who are in early stages of lupus is currently done through clinical evaluation and is not greatly facilitated by available diagnostic tests. Profiling for patient characteristics and antibody specificities that predict disease would enhance the ability of physicians to identify and treat early cases prior to onset of organ damaging illness. Methods: A group [...]