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1.
Autoimmun Rev ; 18(9): 102352, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31323355

RESUMO

Studies on last genetic and epigenetic predisposition to APS are summarized. It is well known that genetic predisposition is in HLA system (DR4 and DRw53) and that lupus anticoagulant (LA) and anticardiolipin antibodies (aCL) are both associated with the same HLA antigens. Other genes, outside the MHC, give their contribution to the development of this autoimmune syndrome, such as IRF5, STAT4 and those related to inherited thrombophilia - factor V Leiden and G20210A prothrombin polymorphisms. Finally, post-transcriptional modifications of anti-beta2GPI antibodies could be implicated too. The most important discovery of last years is that altered microRNAs' expression is linked to autoimmunity, thrombosis, early atherosclerosis, and oxidative stress in APS.


Assuntos
Síndrome Antifosfolipídica/genética , Epigênese Genética/fisiologia , Antígenos HLA/genética , Resistência à Proteína C Ativada/sangue , Resistência à Proteína C Ativada/genética , Resistência à Proteína C Ativada/imunologia , Anticorpos Anticardiolipina/sangue , Síndrome Antifosfolipídica/sangue , Síndrome Antifosfolipídica/imunologia , Predisposição Genética para Doença , Genótipo , Humanos , Inibidor de Coagulação do Lúpus/sangue , Polimorfismo Genético , Trombose/complicações , Trombose/genética , Trombose/imunologia , beta 2-Glicoproteína I/imunologia
2.
Autoimmun Rev ; 18(2): 164-176, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30572134

RESUMO

Pregnancy requires a special management in women with inflammatory rheumatic diseases (RDs), with the aim of controlling maternal disease activity and avoiding fetal complications. Despite the heterogeneous course of RDs during pregnancy, their impact on pregnancy largely relates to the extent of active inflammation at the time of conception. Therefore, accurate evaluation of disease activity is crucial for the best management of pregnant patients. Nevertheless, there are limitations in using conventional measures of disease activity in pregnancy, as some items included in these instruments can be biased by symptoms or by physiological changes related to pregnancy and the pregnancy itself may influence laboratory parameters used to assess disease activity. This article aims to summarize the current literature about the available instruments to measure disease activity during pregnancy in RDs. Systemic lupus erythematosus is the only disease with instruments that have been modified to account for several adaptations which might interfere with the attribution of signs or symptoms to disease activity during pregnancy. No modified-pregnancy indices exist for women affected by other RDs, but standard indices have been applied to pregnant patients. The current body of knowledge shows that the physiologic changes that occur during pregnancy need to be either adapted from existing instruments or developed to improve the management of pregnant women with RDs. Standardized instruments to assess disease activity during pregnancy would be helpful not only for clinical practice but also for research purposes.


Assuntos
Complicações na Gravidez/fisiopatologia , Doenças Reumáticas/fisiopatologia , Feminino , Humanos , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/patologia , Doenças Reumáticas/patologia
3.
J Rheumatol ; 2018 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-30442823

RESUMO

OBJECTIVE: To describe nailfold videocapillaroscopy (NVC) features of patients with antisynthetase syndrome (AS) and to investigate possible correlations with clinical and serological features of the disease. METHODS: We retrospectively analyzed NVC images of 190 patients with AS [females/males 3.63, mean age 49.7 ± 12.8 yrs, median disease duration 53.7 mos (interquartile range 82), 133 anti-Jo1 and 57 non-anti-Jo1-positive patients]. For each patient, we examined number of capillaries, giant capillaries, microhemorrhages, avascular areas, ramified capillaries, and the presence of systemic sclerosis (SSc)-like pattern. Finally, we correlated NVC features with clinical and serological findings of patients with AS. Concomitantly, a historical cohort of 75 patients with antinuclear antibody-negative primary Raynaud phenomenon (RP) and longterm followup was used as a control group (female/male ratio 4.13/1, mean age 53.9 ± 17.6 yrs) for NVC measures. RESULTS: NVC abnormalities were observed in 62.1% of AS patients compared with 29.3% of primary RP group (p < 0.001). An SSc-like pattern was detected in 67 patients (35.3%) and it was associated with anti-Jo1 antibodies (p = 0.002) and also with a longer disease duration (p = 0.004). Interestingly, there was no significant correlation between the presence of SSc-like pattern and RP, and only 47% of patients with SSc-like pattern had RP. CONCLUSION: NVC abnormalities are commonly observed in AS, independently from the occurrence of RP. The presence of an SSc-like pattern could allow identification of a more defined AS subtype, and prospective studies could confirm the association with clinical and serological features of AS.

4.
Clin Exp Rheumatol ; 36(1): 44-49, 2018 Jan-Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28770709

RESUMO

OBJECTIVES: To evaluate if the timing of appearance with respect to disease onset may influence the arthritis presentation pattern in antisynthetase syndrome (ASSD). METHODS: The patients were selected from a retrospective large international cohort of ASSD patients regularly followed-up in centres referring to AENEAS collaborative group. Patients were eligible if they had an antisynthetase antibody testing positive in at least two determinations along with arthritis occurring either at ASSD onset (Group 1) or during the course of the disease (Group 2). RESULTS: 445 (70%; 334 females, 110 males, 1 transsexual) out of the 636 ASSD we collected had arthritis, in the majority of cases (367, 83%) from disease onset (Group 1). Patients belonging to Group 1 with respect to Group 2 had an arthritis more commonly polyarticular and symmetrical (p=0.015), IgM-Rheumatoid factor positive (p=0.035), erosions at hands and feet plain x-rays (p=0.036) and more commonly satisfying the 1987 revised classification criteria for rheumatoid arthritis (RA) (p=0.004). Features such as Raynaud's phenomenon, mechanic's hands and fever (e.g. accompanying findings) were more frequently reported in Group 2 (p=0.005). CONCLUSIONS: In ASSD, the timing of appearance with respect to disease onset influences arthritis characteristics. In particular, RA features are more common when arthritis occurs from ASSD onset, suggesting an overlap between RA and ASSD in these patients. When arthritis appears during the follow-up, it is very close to a connective tissue disease-related arthritis. Also, the different prevalence of accompanying features between these two groups is in line with this possibility.


Assuntos
Artrite/epidemiologia , Miosite/epidemiologia , Adulto , Artrite/diagnóstico , Artrite/imunologia , Autoanticorpos/sangue , Biomarcadores/sangue , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Miosite/diagnóstico , Miosite/imunologia , Fenótipo , Prevalência , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo
5.
Lupus Sci Med ; 3(1): e000163, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27651920

RESUMO

OBJECTIVES: Rituximab (RTX) is a biological treatment used off-label in patients with systemic lupus erythematosus (SLE). This survey aimed to investigate the off-label use of RTX in Europe and compare the characteristics of patients receiving RTX with those receiving conventional therapy. METHODS: Data on patients with SLE receiving RTX were taken from the International Registry for Biologics in SLE retrospective registry and complemented with data on patients with SLE treated with conventional therapy. For nationwide estimates of RTX use in patients with SLE, investigators were asked to provide data through case report forms (CRFs). Countries for which no data were submitted through CRFs, published literature and/or personal communication were used, and for European countries where no data were available, estimates were made on the assumption of similarities with neighbouring countries. RESULTS: The estimated off-label use of RTX in Europe was 0.5%-1.5% of all patients with SLE. In comparison with patients with SLE on conventional therapy, patients treated with RTX had longer disease duration, higher disease activity and were more often treated with immunosuppressives. The most frequent organ manifestations for which either RTX or conventional therapy was initiated were lupus nephritis followed by musculoskeletal and haematological. The reason for treatment was, besides disease control, corticosteroid-sparing for patients treated with conventional therapy. CONCLUSIONS: RTX use for SLE in Europe is restrictive and appears to be used as a last resort in patients for whom other reasonable options have been exhausted.

6.
Isr Med Assoc J ; 18(3-4): 212-5, 2016 Mar-Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27228646

RESUMO

BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease with a high degree of variability at onset, making it difficult to reach a correct and prompt diagnosis. OBJECTIVES: To present the difficulties faced by the clinician in making a SLE diagnosis, based on the characteristics at study entry of an Italian cohort of SLE patients with recent onset as compared to two similar cohorts. METHODS: Beginning on 1 January 2012 all patients with a diagnosis of SLE (1997 ACR criteria) and disease duration of less than 12 months were consecutively enrolled in a multicenter prospective study. Information on clinical and serological characteristics was collected at study entry and every 6 months thereafter. RESULTS: Our cohort consisted of 122 patients, of whom 103 were females. Among the manifestations included in the 1997 American College of Rheumatology (ACR) criteria, cutaneous, articular and hematologic symptoms were the most prevalent symptoms at study entry. CONCLUSIONS: Data from the literature confirm that the diagnosis of SLE is challenging, and that SLE is a severe disease even at onset when a prompt diagnosis is necessary for initiating the appropriate therapy.


Assuntos
Antirreumáticos/uso terapêutico , Lúpus Eritematoso Sistêmico , Qualidade de Vida , Adulto , Idade de Início , Diagnóstico Precoce , Feminino , Humanos , Itália/epidemiologia , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/epidemiologia , Lúpus Eritematoso Sistêmico/imunologia , Lúpus Eritematoso Sistêmico/fisiopatologia , Lúpus Eritematoso Sistêmico/psicologia , Masculino , Pessoa de Meia-Idade , Prevalência , Prognóstico , Estudos Prospectivos , Índice de Gravidade de Doença , Avaliação de Sintomas/métodos , Avaliação de Sintomas/estatística & dados numéricos
7.
Autoimmun Rev ; 15(5): 433-9, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26804759

RESUMO

Studies on the immunogenetic predisposition to antiphospholipid syndrome (APS) and on other non-genetic and epigenetic factors are summarised and discussed. Family studies suggest a genetic predisposition to APS. It appears that this genetic predisposition is in part accounted for by the HLA system, the most consistent associations being those with DR4 and DRw53. Furthermore, it appears that lupus anticoagulant (LA) and anticardiolipin (aCL) antibodies are both associated with the same HLA antigens. Population studies suggest that HLA genes have a role in conferring susceptibility to develop primary APS, with some differences in different ethnic groups. Other genes, outside the MHC, give their contribution to the development of this autoimmune syndrome, such as IRF5, STAT4 and those related to inherited thrombophilia--factor V Leiden and G20210A prothrombin polymorphisms. Finally, post-transcriptional modifications of anti-beta2GPI antibodies could be implicated too.


Assuntos
Síndrome Antifosfolipídica/genética , Animais , Anticorpos/imunologia , Síndrome Antifosfolipídica/imunologia , Predisposição Genética para Doença , Humanos , Polimorfismo Genético , Processamento de Proteína Pós-Traducional
8.
Clin Exp Rheumatol ; 33(4): 449-56, 2015 Jul-Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26053285

RESUMO

OBJECTIVES: To evaluate the efficacy and safety of rituximab (RTX) in patients with systemic lupus erythematosus (SLE) refractory to standard therapy in the clinical practice setting. METHODS: 145 SLE patients (ACR criteria) were treated with RTX in 11 Italian Centres: 118 with two infusions (1 g), two weeks apart; 27 with 4 infusions (375 mg/m2), one week apart, followed in 10 cases by two further doses, after 1 and 2 months. Systemic complete response (CR) was defined as European Consensus Lupus Activity Measurement (ECLAM) score ≤1 and partial response (PR) as 1< ECLAM ≤3. Renal CR (RCR) and renal PR (RPR) were defined according to EULAR recommendations for management of lupus nephritis. RESULTS: Data from 134 (92.4%) patients were available. The mean±SD follow-up was 27.3±18.5 months. After the first course of RTX, CR or PR were observed in 85.8% and CR in 45.5% of cases; RCR or RPR in 94.1% and RCR in 30.9% of patients after 12-month follow-up. Disease flares occurred in 35.1% and renal flares in 31.2% of patients during observational period. Among patients retreated, CR or PR were observed in 84.4% and CR in 57.8% of cases. Adverse events, infections, and infusion reactions occurred after first RTX course in 23.8%, 16.4%, and 3.8% of patients and after retreatment in 33.3%, 22.2% and 11.1%, respectively. No severe infusion reactions or deaths occurred. CONCLUSIONS: Data from Italian multicentre RTX Registry confirmed the efficacy and safety of RTX in SLE patients refractory to standard treatment in clinical practice setting.


Assuntos
Anticorpos Monoclonais Murinos/administração & dosagem , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Adulto , Antirreumáticos/administração & dosagem , Relação Dose-Resposta a Droga , Monitoramento de Medicamentos/métodos , Resistência a Medicamentos , Feminino , Humanos , Imunossupressão/métodos , Itália , Lúpus Eritematoso Sistêmico/imunologia , Lúpus Eritematoso Sistêmico/fisiopatologia , Masculino , Pessoa de Meia-Idade , Uso Off-Label , Indução de Remissão/métodos , Rituximab , Índice de Gravidade de Doença , Resultado do Tratamento
9.
Clin Exp Rheumatol ; 33(3): 375-84, 2015 May-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26005879

RESUMO

OBJECTIVES: To determine the clinical profile and estimate the annual direct medical cost of care of adult patients with active, autoantibody positive systemic lupus erythematosus (SLE) in Italy. METHODS: A two-year, retrospective, multicentre, observational study was conducted from January to May 2011. Patients' characteristics, SLE disease activity and severity, rate of flares, healthcare consumption (e.g. medications, etc.) were evaluated. Medical costs were assessed from the Italian National Health Insurance perspective. RESULTS: Four centres enrolled 96 eligible patients, including 85.4% women. Patients were equally stratified per disease severity (severe SLE: 51%). The mean (SD) age was 42.9 (13.8) years. At baseline, SLE duration was 12.6 (7.2) years. The mean (SD) SELENA-SLEDAI score was higher in severe than in non-severe patients 9.2 (6.4) vs. 3.3 (3.1) (p<0.001). The mean (SD) SLICC/ACR index score was similar in the two subgroups: 0.4 (0.8) vs. 0.3 (0.8). Over the study period, severe patients experienced on average 0.73 (0.56) flares/year and non-severe patients 0.57 (0.63). The annual medical cost was 1.6 times higher in severe than in non-severe patients (€2,101 vs. €1,320; p=0.031). The cost of medications was also 2.5 times higher in severe patients (€1101 vs. €445, p=0.007). Low C3/C4 complement levels and each severe flare incremented the annual cost of €550 (p=0.011) and €465 (p=0.02), respectively. CONCLUSIONS: The medical cost of SLE in Italy is related to disease severity and flares. Medications identified as the main cost drivers, and low C3/C4 complement levels and severe flares as the main cost predictors, increased significantly the cost of SLE management.


Assuntos
Custos de Medicamentos , Imunossupressores/economia , Imunossupressores/uso terapêutico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/economia , Adulto , Idoso , Assistência Ambulatorial/economia , Autoanticorpos/sangue , Biomarcadores/sangue , Serviços Médicos de Emergência/economia , Feminino , Custos Hospitalares , Hospitalização/economia , Humanos , Itália/epidemiologia , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/epidemiologia , Masculino , Pessoa de Meia-Idade , Visita a Consultório Médico/economia , Recidiva , Indução de Remissão , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
10.
Artigo em Inglês | MEDLINE | ID: mdl-25371656

RESUMO

BACKGROUND: To evaluate bone status in children born from mothers followed for autoimmune diseases and treated during pregnancy with low molecular weight heparin (LMVH) and/or prednisone. FINDINGS: History, physical examination, laboratory tests and phalangeal ultrasonography were performed. Demographic, clinical, and laboratory data were entered into a customized database, and results were analyzed with SPSS software. In children whose mothers were treated with LMWH, we retrieved dried blood spots taken for newborn screening, and analyzed the presence of heparin with tandem mass spectrometry. We enrolled 27 females and 14 males born from 31 mothers with SLE or connective tissue diseases. These women were continuously treated during pregnancy with LMWH (n = 10), prednisone (n = 16), or both (n = 15). Bone ultrasound revealed low values (≤ 3 centile for age) in ten patients. In a multistep regression analysis, age at examination resulted the single predictor of low ultrasound values (p < 0.004). Tandem mass spectroscopy failed to determine traces of heparin in newborn blood. CONCLUSIONS: Children born from mothers with autoimmune diseases are at risk to develop reduced bone mass. The administration of LMWH and of prednisone seems to be safe with regard to children's bone health.


Assuntos
Doenças Autoimunes/tratamento farmacológico , Reabsorção Óssea/epidemiologia , Osso e Ossos/diagnóstico por imagem , Heparina de Baixo Peso Molecular/uso terapêutico , Prednisona/uso terapêutico , Complicações na Gravidez/tratamento farmacológico , Reabsorção Óssea/diagnóstico por imagem , Criança , Pré-Escolar , Doenças do Tecido Conjuntivo/tratamento farmacológico , Quimioterapia Combinada , Feminino , Seguimentos , Heparina de Baixo Peso Molecular/efeitos adversos , Humanos , Lactente , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Masculino , Prednisona/efeitos adversos , Gravidez , Efeitos Tardios da Exposição Pré-Natal/diagnóstico por imagem , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Análise de Regressão , Fatores de Risco , Ultrassonografia
11.
Rheumatology (Oxford) ; 51(12): 2186-90, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22923750

RESUMO

OBJECTIVE: To evaluate the association between serum complement levels (C3 and C4) and obstetric complications. METHODS: Fifty-seven pregnancies in primary APS (PAPS) patients were compared with 49 pregnancies in patients with UCTD and SS. A group of 175 healthy pregnant women were studied to calculate a normality range for C3 and C4 during pregnancy. Such a range was applied to define hypocomplementaemia in PAPS and UCTD/SS. RESULTS: Both groups of patients (PAPS and UCTD/SS) showed significantly lower levels of C3 and C4 in each trimester as compared with healthy women; conversely, no significant difference was found between PAPS and UCTD/SS. Comparing PAPS pregnancies with and without complications, no difference was found in the prevalence of low C3 or low C4. CONCLUSION: No association was found between hypocomplementaemia and obstetric complications in PAPS. However, both cases of pre-eclampsia were characterized by low C3 throughout pregnancy. There is evidence that the complement system is a contributor to the mechanisms of aPL-mediated damage, but its predictive role on the final pregnancy outcome does not seem to be of major impact.


Assuntos
Síndrome Antifosfolipídica/complicações , Complemento C3/metabolismo , Complemento C4/metabolismo , Complicações na Gravidez/prevenção & controle , Adulto , Síndrome Antifosfolipídica/sangue , Estudos de Casos e Controles , Feminino , Humanos , Gravidez , Complicações na Gravidez/etiologia , Resultado da Gravidez , Trimestres da Gravidez , Diagnóstico Pré-Natal , Estudos Prospectivos , Valores de Referência , Estudos Retrospectivos , Adulto Jovem
12.
Arthritis Rheum ; 64(6): 1970-7, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22213060

RESUMO

OBJECTIVE: To assess fetal and maternal outcomes in women with systemic sclerosis (SSc). METHODS: Prospectively collected data on 99 women with SSc from 25 Italian centers were analyzed retrospectively. Women with SSc were observed during 109 pregnancies (from 2000 to 2011), and outcomes were compared to those in the general obstetric population (total of 3,939 deliveries). The maternal age at conception was a mean ± SD 31.8 ± 5.3 years, and the median disease duration at conception was 60 months (range 2-193 months). RESULTS: SSc patients, compared to the general obstetric population, had a significantly increased frequency of preterm deliveries (25% versus 12%) and severe preterm deliveries (<34 weeks of gestation) (10% versus 5%), intrauterine growth restriction (6% versus 1%), and babies with very-low birth weight (5% versus 1%). Results of multivariable analysis showed that corticosteroid use was associated with preterm deliveries (odds ratio [OR] 3.63, 95% confidence interval [95% CI] 1.12-11.78), whereas the use of folic acid (OR 0.30, 95% CI 0.10-0.91) and presence of anti-Scl-70 antibodies (OR 0.26, 95% CI 0.08-0.85) were protective. The disease remained stable in most SSc patients, but there were 4 cases of progression of disease within 1 year from delivery, all in anti-Scl-70 antibody-positive women, 3 of whom had a disease duration of <3 years. CONCLUSION: Women with SSc can have successful pregnancies, but they have a higher-than-normal risk of preterm delivery, intrauterine growth restriction, and babies with very-low birth weight. Progression of the disease during or after pregnancy is rare, but possible. High-risk multidisciplinary management should be standard for these patients, and pregnancy should be avoided in women with severe organ damage and postponed in women with SSc of recent onset, particularly if the patient is positive for anti-Scl-70 antibodies.


Assuntos
Retardo do Crescimento Fetal/epidemiologia , Nascimento Prematuro/epidemiologia , Escleroderma Sistêmico/fisiopatologia , Adulto , Feminino , Humanos , Recém-Nascido , Gravidez , Resultado da Gravidez , Prevalência , Estudos Retrospectivos , Risco
13.
Am J Reprod Immunol ; 66(2): 84-9, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21736662

RESUMO

PROBLEM: To evaluate changes of serum IL-17, activin A, follistatin, and other cytokines during pregnancy in women with systemic lupus erythematosus (SLE). METHOD OF STUDY: A group of patients with SLE and controls were longitudinally studied, collecting a blood sample before and during three trimesters of pregnancy. Serum activin A, follistatin, IL-17, IL-6, IL-10, and TNF-α concentrations were evaluated by specific ELISA. RESULTS: Before pregnancy, while serum IL-17, IL-6, IL-10, and TNF-α resulted significantly higher in women with SLE (P<0.001), activin A and follistatin were not changed. Serum IL-17 concentrations were higher in SLE than in controls with no changes during pregnancy. IL-6 increased in both groups, resulting higher in SLE than in controls only in the first trimester (P<0.05). IL-10 concentration in SLE increased during pregnancy resulting significantly higher than in controls (P<0.01). TNF-α levels were higher in SLE than in controls in third trimester (P<0.01). Serum activin A levels in SLE were significantly higher than in controls (P<0.001) at third trimester. CONCLUSION: Women with SLE show increased secretions of activin A, IL-17, IL-6, IL-10, and TNF-α during gestation, with a different trend for the various cytokines. These data suggest that patients with SLE have a hyper-reactive immune system, probably receiving a placental contribution.


Assuntos
Ativinas/sangue , Interleucina-17/sangue , Lúpus Eritematoso Sistêmico/sangue , Ativinas/imunologia , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Interleucina-17/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Gravidez , Estudos Prospectivos
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