Browsing by Author "Moraes-Fontes, MF"
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- Antiphospholipid Syndrome: State of the Art on Clinical Practice GuidelinesPublication . Limper, M; Scirè, CA; Talarico, R; Amoura, Z; Avcin, T; Basile, M; Burmester, G; Carli, L; Cervera, R; Costedoat-Chalumeau, N; Doria, A; Dörner, T; Eurico Fonseca, J; Galetti, I; Hachulla, E; Launay, D; Lourenco, F; Macieira, C; Meroni, P; Montecucco, CM; Moraes-Fontes, MF; Mouthon, L; Nalli, C; Ramoni, V; Tektonidou, M; van Laar, JM; Bombardieri, S; Schneider, M; Smith, V; Vieira, A; Cutolo, M; Mosca, M; Tincani, AAntiphospholipid syndrome (APS) is a rare disease characterised by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies. This review aims to identify existing clinical practice guidelines (CPG) as part of the ERN ReCONNET project, aimed at evaluating existing CPGs or recommendations in rare and complex diseases. Seventeen papers providing important data were identified; however, the literature search highlighted the scarceness of reliable clinical data to develop CPGs. With no formal clinical guidelines in place, diagnosis and treatment of APS is largely based on consensus and expert opinion. Patients' unmet need refers to the understanding of the disease and its clinical picture and implications, the need of education for patients, family members and healthcare providers, as well as to the development of monitoring pathways involving multiple healthcare providers.
- Characterization of Damage in Portuguese Lupus PatientsPublication . Moraes-Fontes, MF; Riso, N
- Clinical Presentation and Long-Term Outcomes of Systemic Sclerosis Portuguese Patients from a Single Centre Cohort: A EUSTAR Registration InitiativePublication . Vidal, C; Ruano, C; Bernardino, V; Lavado Carreira, P; Lladó, A; Santos, MC; Gruner, H; Panarra, A; Riso, N; Moraes-Fontes, MFINTRODUCTION: Systemic sclerosis is a complex disorder that requires systematic screening. Our objective is to report the European Scleroderma Trials and Research group centre affiliation and its impact in our clinical practice. MATERIAL AND METHODS: The European Scleroderma Trials and Research group affiliation process, database update and current patient evaluation, with respect to demographic and clinical features. Cumulative mortality was analysed. RESULTS: We identified 19 female patients (which met all the American College of Rheumatology/ European League Against Rheumatism 2013 criteria for systemic sclerosis) under current follow-up, divided according to the LeRoy classification into diffuse cutaneous (n = 5), limited cutaneous (n = 11) and limited (n = 3) types, followed for a median period of 5, 12 and 6 years, respectively. Raynaud´s phenomenon and abnormal nailfold capillaries were universally present. Interstitial lung disease was absent in the limited cutaneous form but present in 100% of the diffuse subtype. Pitting scars were more common in the diffuse form. Active disease was also more frequent in the diffuse form, and most patients with active disease were treated with anti-endothelin receptor antagonists. Over 21 years (from 1994 to 2015) the mortality rate was 55% (n = 23/42). Age at time of death was significantly lower in the diffuse subtype. DISCUSSION: Our single centre cohort shares many features with larger and international reports and more specifically is in accordance with patient characteristics described in the European Scleroderma Trials and Research group registries. CONCLUSION: The European Scleroderma Trials and Research group registration motivated our systematic patient characterization and may be used as a tool for homogenous disease registries.
- Comment on: PML in patients with systemic lupus erythematosus: a systematic literature reviewPublication . Moraes-Fontes, MF; Berntsson, SG
- Erythema Annulare Centrifugum During Rituximab Treatment for Autoimmune Haemolytic AnaemiaPublication . Mendes-Bastos, P; Coelho-Macias, V; Moraes-Fontes, MF; Milheiro, A; Rodrigues, AM; Cardoso, J
- EULAR Recommendations for Women's Health and the Management of Family Planning, Assisted Reproduction, Pregnancy and Menopause in Patients with Systemic Lupus Erythematosus and/or Antiphospholipid SyndromePublication . Andreoli, L; Bertsias, GK; Agmon-Levin, N; Brown, S; Cervera, R; Costedoat-Chalumeau, N; Doria, A; Fischer-Betz, R; Forger, F; Moraes-Fontes, MF; Khamashta, M; King, J; Lojacono, A; Marchiori, F; Meroni, PL; Mosca, M; Motta, M; Ostensen, M; Pamfil, C; Raio, L; Schneider, M; Svenungsson, E; Tektonidou, M; Yavuz, S; Boumpas, D; Tincani, AOBJECTIVES: Develop recommendations for women's health issues and family planning in systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). METHODS: Systematic review of evidence followed by modified Delphi method to compile questions, elicit expert opinions and reach consensus. RESULTS: Family planning should be discussed as early as possible after diagnosis. Most women can have successful pregnancies and measures can be taken to reduce the risks of adverse maternal or fetal outcomes. Risk stratification includes disease activity, autoantibody profile, previous vascular and pregnancy morbidity, hypertension and the use of drugs (emphasis on benefits from hydroxychloroquine and antiplatelets/anticoagulants). Hormonal contraception and menopause replacement therapy can be used in patients with stable/inactive disease and low risk of thrombosis. Fertility preservation with gonadotropin-releasing hormone analogues should be considered prior to the use of alkylating agents. Assisted reproduction techniques can be safely used in patients with stable/inactive disease; patients with positive antiphospholipid antibodies/APS should receive anticoagulation and/or low-dose aspirin. Assessment of disease activity, renal function and serological markers is important for diagnosing disease flares and monitoring for obstetrical adverse outcomes. Fetal monitoring includes Doppler ultrasonography and fetal biometry, particularly in the third trimester, to screen for placental insufficiency and small for gestational age fetuses. Screening for gynaecological malignancies is similar to the general population, with increased vigilance for cervical premalignant lesions if exposed to immunosuppressive drugs. Human papillomavirus immunisation can be used in women with stable/inactive disease. CONCLUSIONS: Recommendations for women's health issues in SLE and/or APS were developed using an evidence-based approach followed by expert consensus.
- Fatal CTLA-4 Heterozygosity With Autoimmunity and Recurrent Infections: a De Novo MutationPublication . Moraes-Fontes, MF; Hsu, AP; Caramalho, I; Martins, C; Araújo, AC; Lourenço, F; Taulaigo, AV; Lladó, A; Holland, SM; Uzel, GPrimary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.
- Fatores Determinantes de Morbilidade nos Doentes com Lúpus Eritematoso SistémicoPublication . Jacinto, M; Silva, E; Riso, N; Moraes-Fontes, MFIntrodução: O lúpus eritematoso sistémico pode apresentar uma gravidade variável. Contudo, não existem biomarcadores que preveem o curso da doença. O dano é medido pelo índice Systemic Lupus International Collaborating Clinics/Systemic Damage Index que define a gravidade e prevê o seu prognóstico. Objetivo: Avaliação dos fatores que determinam dano nos doentes com lúpus eritematoso sistémico. Material e Métodos: Estudo retrospetivo, monocêntrico, em doentes com lúpus eritematoso sistémico (≥ 4 critérios do American College of Rheumatology – 100% dos doentes, n = 76), do sexo feminino, seguidos por um período ≥ 5 anos. Início da doença, etnia, duração, número de critérios American College of Rheumatology no final do seguimento, fenótipo renal, neuropsiquiátrico (e articular, co-morbilidades e Systemic Lupus Erythematosus Disease Activity Index -2K foram correlacionados com a presença e grau de dano medido pelo índice Systemic Lupus International Collaborating Clinics/Systemic Damage Index. A acumulação de critérios American College of Rheumatology foi objetivada num sub-grupo de doentes seguidos desde o início. A análise estatística utilizou o qui-quadrado, Wilcoxon Mann-Whitney e a correlação de Spearman (p < 0,05). Resultados: O Systemic Lupus International Collaborating Clinics Index era superior a 0 em 56,5% dos doentes. Estes doentes tinham um maior tempo de doença, um maior número de critérios American College of Rheumatology e um fenótipo neuropsiquiátrico, quando comparados com doentes sem dano (p < 0,05). Verificou-se uma correlação positiva entre o valor numérico de critérios American College of Rheumatology acumulados no final do seguimento e a atividade da doença nos últimos cinco anos (Spearman rho 0,02 e p < 0,05). Não se verificaram diferenças em relação às outras variáveis. Discussão e Conclusão: A duração da doença e o número de critérios do American College of Rheumatology acumulados conseguem prever a presença de dano. A doença neuropsiquiátrica teve impacto na morbilidade dos doentes com lúpus eritematoso sistémico, identificando um subgrupo em risco.
- Gene Expression Profiling and Association Studies Implicate the Neuregulin Signaling Pathway in Behçet's Disease SusceptibilityPublication . Xavier, J; Krug, T; Davatchi, F; Shahram, F; Fonseca, B; Jesus, G; Barcelos, F; Vedes, J; Salgado, M; Abdollahi, B; Nadji, A; Moraes-Fontes, MF; Shafiee, N; Ghaderibarmi, F; Patto, J; Crespo, J; Oliveira, SBehçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched controls using Affymetrix microarrays and found that the neuregulin signaling pathway was over-represented among the differentially expressed genes. The Epiregulin (EREG), Amphiregulin (AREG), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor (EGF) family, seem to modulate BD susceptibility through main effects and gene–gene interactions. These association findings support a role for the EGF/ErbB signaling pathway inBD pathogenesis that warrants further investigation and highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex diseases.
- Heterogeneous lupus-specific lesions and treatment outcome, in a single patient, over a period of timePublication . Fernandes, M; Taulaigo, AV; Vidal, C; Agostini, P; Riso, N; Moraes-Fontes, MFThe report highlights the importance of strict clinico-histological correlations when skin biopsies are performed in diagnostic doubt in systemic lupus erythematosus. Furthermore, PUVA is never indicated in autoimmune conditions involving photosensitivity, due to high potential for internal and cutaneous aggravation of the disease, as the authors observed in this case.
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