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- Immunodeficiency and Autoimmunity Coming Together: a Nearly Missed DiagnosisPublication . Carreiro, F; Betkova, S; Sepúlveda, C; Manata, MJ; Cardoso, O; Maltez, F; Moraes-Fontes, MFThe coexistence of human immunodeficiency virus (HIV) and systemic lupus erythematosus (SLE) appears to be unusual and the prevalence of patients who carry the dual diagnosis is currently unknown. We hereby present a case of a C4 deficient HIV-1 positive Caucasian female under highly active antiretroviral therapy for the past eight years, admitted to hospital with an aggressive and potentially fatal clinical presentation of SLE. There was a favorable outcome despite a significant diagnostic delay. Despite its rarity, the case highlights that this association is remarkable and may be overlooked by clinicians familiar with either condition.
- The Impact of COVID-19 on Rare and Complex Connective Tissue Diseases: the Experience of ERN ReCONNETPublication . Talarico, R; Aguilera, S; Alexander, T; Amoura, Z; Antunes, A; Arnaud, L; Avcin, T; Beretta, L; Bombardieri, S; Burmester, G; Cannizzo, S; Cavagna, L; Chaigne, B; Cornet, A; Costedoat-Chalumeau, N; Doria, A; Ferraris, A; Fischer-Betz, R; Fonseca, J; Frank, C; Gaglioti, A; Galetti, I; Grunert, J; Guimarães, V; Hachulla, E; Houssiau, F; Iaccarino, L; Krieg, T; Limper, M; Malfait, F; Mariette, X; Marinello, D; Martin, T; Matthews, L; Matucci-Cerinic, M; Meyer, A; Montecucco, C; Mouthon, L; Müller-Ladner, U; Rednic, S; Romão, V; Schneider, M; Smith, V; Sulli, A; Tamirou, F; Taruscio, D; Taulaigo, A; Terol, E; Tincani, A; Ticciati, S; Turchetti, G; van Hagen, P; van Laar, J; Vieira, A; de Vries-Bouwstra, J; Cutolo, M; Mosca, MDuring the COVID-19 pandemic, the need to provide high-level care for a large number of patients with COVID-19 has affected resourcing for, and limited the routine care of, all other conditions. The impact of this health emergency is particularly relevant in the rare connective tissue diseases (rCTDs) communities, as discussed in this Perspective article by the multi-stakeholder European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET). The clinical, organizational and health economic challenges faced by health-care providers, institutions, patients and their families during the SARS-CoV-2 outbreak have demonstrated the importance of ensuring continuity of care in the management of rCTDs, including adequate diagnostics and monitoring protocols, and highlighted the need for a structured emergency strategy. The vulnerability of patients with rCTDs needs to be taken into account when planning future health policies, in preparation for not only the post-COVID era, but also any possible new health emergencies.
- Raynaud's Phenomenon and Inflammatory Bowel Disease: the Possible Role of MicrocirculationPublication . Bernardino, V; Rodrigues, AC; Panarra, A
- Paradoxical Pulmonary Event Under Tocilizumab Treatment for Systemic Sclerosis-Associated Usual Interstitial PneumoniaPublication . Oliveira, AL; Ruano, C; Riso, N; Cepeda Ribeiro, J; Moraes-Fontes, MF
- Primary Anti-Phospholipid Antibody Syndrome: Real-World Defining Features of Rethrombosis in the Course of DiseasePublication . Moraes-Fontes, MF; Pedro, F; Campos, MM; Fernandes, M; Yavuz, S; Oliveira, F; Panarra, AObjective: We aimed to identify features that allow differentiation of primary antiphospholipid syndrome (PAPS) patients that suffer recurrent thrombotic events (RTE) despite anticoagulation, from the other diagnosed PAPS patients. Methods: This was an exploratory study of anticoagulated PAPS patients attending an Autoimmune Diseases Unit (1998-2018). From 2016, anti-phospholipid antibodies and lupus anticoagulant were determined for each patient at consecutive visits, collected together with retrospective clinical characteristics, laboratory, and therapeutic markers and compared according to the occurrence of thrombotic events during follow-up. Results: Overall, two thirds of the patients were female, 93% were Caucasian, with a median age of 40 years at diagnosis, for a median time of 11.5 years in follow-up. Out of 54 patients, 10 were identified with RTE. There were no significant differences among the RTE and non-RTE patients as far as classical risk factors for clotting disorders. The RTE group was characterized by a higher proportion of younger patients, male sex and positivity for all laboratory markers, and initially and over follow-up as well as a sustained high-risk profile based on APS laboratory markers. Anticardiolipin IgG at onset was the only statistically significant marker of the RTE group. At the end of follow-up, consistent reversion to negative status was a rare event, observed in 20% of RTE vs. 25% of non-RTE patients. Conclusions: Despite therapy, we were able to identify features associated to thrombotic events in patients with PAPS. Prospectively regular clinical and laboratory monitoring might be warranted in order to treat APS more assertively.
- Multimodality Imaging in Connective Tissue Disease-Related Interstitial Lung DiseasePublication . Ruano, C; Grafino, M; Borba, A; Pinheiro, S; Fernandes, O; Silva, S; Bilhim, T; Moraes-Fontes, MF; Irion, KInterstitial lung disease is a well-recognised manifestation and a major cause of morbidity and mortality in patients with connective tissue diseases. Interstitial lung disease may arise in the context of an established connective tissue disease or be the initial manifestation of an otherwise occult autoimmune disorder. Early detection and characterisation are paramount for adequate patient management and require a multidisciplinary approach, in which imaging plays a vital role. Computed tomography is currently the imaging method of choice; however, other imaging techniques have recently been investigated, namely ultrasound, magnetic resonance imaging, and positron-emission tomography, with promising results. The aim of this review is to describe the imaging findings of connective tissue disease-related interstitial lung disease and explain the role of each imaging technique in diagnosis and disease characterisation.
- Ocular Involvement in Systemic Lupus Erythematosus Patients: a Paradigm Shift Based on the Experience of a Tertiary Referral CenterPublication . Dias-Santos, A; Ferreira, J; Pinheiro, S; Cunha, JP; Alves, M; Papoila, AL; Moraes-Fontes, MF; Proença, RObjective: To evaluate ocular involvement in a cohort of systemic lupus erythematosus (SLE) patients of a tertiary referral center and to compare the results with the existing literature. Methods: Patients underwent a complete ophthalmological evaluation, including visual acuity, slit-lamp examination, fluorescein staining, Schirmer-I test, Goldmann applanation tonometry, fundoscopy, 10-2 automated threshold visual fields, fundus autofluorescence and spectral-domain optical coherence tomography to screen for hydroxychloroquine (HCQ) macular toxicity. Results: A total of 161 patients (16 men and 145 women) were enrolled in this study. The mean age was 47.6 years and the mean disease duration was 11.5 years. Fifty patients (31.1%) had at least one ocular manifestation of SLE. The most frequent manifestation was dry eye syndrome (12.4%), immediately followed by cataracts (11.2%) and HCQ macular toxicity (11.2%). Among patients with HCQ maculopathy, two presented with an atypical spectral-domain optical coherence tomography pattern. Five patients (3.1%) presented with glaucoma, two patients (1.2%) presented with SLE retinopathy while only one presented with lupus choroidopathy (0.6%). Conclusions: Compared with previous studies, we conclude there has been a significant reduction in disease-related ocular complications, particularly those associated with poor systemic disease control. On the other hand, drug and age-related complications are assuming a prominent role in the ophthalmic care of these patients.
- Recent Developments in Biologic Therapies for the Treatment of Patients with Systemic Lupus ErythematosusPublication . Carreira, P; Isenberg, DSLE has a complex pathogenesis, and multiple therapeutic targets have been discovered in recent years. In spite of belimumab being approved by the US Food and Drug Administration and the widespread use of rituximab, there have been many failed attempts to treat SLE successfully using biologic agents. In this review, we consider newer biologic approaches that might offer the hope of improving the outcome of SLE patients. These include the fully humanized anti-CD20 mAbs, PEGylated anti-CD40L, IFNα inhibitors, rigerimod and immune complexes blockade.
- MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell TransplantationPublication . Moraes-Fontes, MF; Caramalho, Í; Hsu, AP; Holland, SM; Abecasis, M
- Mixed connective tissue disease: state of the art on clinical practice guidelinesPublication . Chaigne, B; Scirè, CA; Talarico, R; Alexander, T; Amoura, Z; Avcin, T; Beretta, L; Doria, A; Guffroy, A; Guimarães, V; Hachulla, É; Krieg, T; Launay, D; Lepri, G; Moinzadeh, P; Müller-Ladner, U; Rednic, S; Rodrigues, A; Tas, SW; van Vollenhoven, RF; Vieira, A; Bombardieri, S; Fonseca, JE; Galetti, I; Schneider, M; Smith, V; Cutolo, M; Mosca, M; Fischer-Betz, RMixed connective tissue disease (MCTD) is a complex overlap disease with features of different autoimmune connective tissue diseases (CTDs) namely systemic sclerosis, poly/dermatomyositis and systemic lupus erythematous in patients with antibodies targeting the U1 small nuclear ribonucleoprotein particle. In this narrative review, we summarise the results of a systematic literature research which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines (CPGs) or recommendations. Since no specific CPGs on MCTD were found, other CPGs developed for other CTDs were taken into consideration in order to discuss what can be applied to MCTD even if designed for other diseases. Three major objectives were proposed for the future development of CPGs: MCTD diagnosis (diagnostic criteria), MCTD initial and follow-up evaluations, MCTD treatment. Early diagnosis, epidemiological data, assessment of burden of disease and QOL aspects are among the unmet needs identified by patients.
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