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1.
Artigo em Inglês | MEDLINE | ID: mdl-31033198

RESUMO

OBJECTIVE: to compare the accuracy of Birmingham Vasculitis score (BVAS) v.3, and Five Factors Score (FFS) v.1996 and v.2009, to assess survival in ANCA-associated Vasculitis (AAV). METHODS: 550 patients with AAV (41.1% GPA, 37.3% MPA, 21.6% EGPA) diagnosed between 1990-2016 were analyzed. ROC curves and multivariable Cox analysis were used to assess the relationships between the outcome and the different scores. RESULTS: Overall mortality was 33.1%. The mean BVAS at diagnosis was 17.96±7.82, and was significantly higher in non-survivors than in survivors (20.0±8.14 vs. 16.95±7.47, p<0.001). The mean 1996FFS and 2009FFS were 0.81±0.94 and 1.47±1.16, respectively, and were significantly higher in non-survivors than in survivors (1.17±1.07 vs. 0.63±0.81, p<0.001; 2.13±1.09 vs. 1.15±1.05, p<0.001). Mortality rates increased accordingly to the different 1996FFS and 2009FFS categories. In multivariate analysis BVAS, 1996FFS and 2009FFS were significantly related to death (p=0.007, p=0.020, p<0.001), but the stronger predictor was the 2009FFS (HR 2.9, 2.4-3.6). When the accuracy of BVAS, 1996FFS and 2009FFS to predict survival was compared in the global cohort, ROC analysis yielded AUC values of 0.60, 0.65 and 0.74, respectively, indicating that 2009FFS had the best performance. Similar results were obtained when comparing these scores in patients diagnosed before and after 2001, and assessing the 1-year, 5-years and long-term mortality. Correlation among BVAS and 1996FFS was modest (r=0.49, p<0.001), but higher than between BVAS and 2009FFS (r=0.28, p<0.001). CONCLUSION: BVAS and FFS are useful to predict survival in AAV, but 2009FFS has the best prognostic accuracy at any point of the disease course. SIGNIFICANCE AND INNOVATION: This is the first study comparing the BVAS, 1996FFS and 2009FFS accuracy to assess survival in patients with AAV, and the first to validate 2009FFS in these patients. This article is protected by copyright. All rights reserved.

2.
COPD ; 16(1): 8-17, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30870059

RESUMO

The CODEX index was developed and validated in patients hospitalized for COPD exacerbation to predict the risk of death and readmission within one year after discharge. Our study aimed to validate the CODEX index in a large external population of COPD patients with variable durations of follow-up. Additionally, we aimed to recalculate the thresholds of the CODEX index using the cutoffs of variables previously suggested in the 3CIA study (mCODEX). Individual data on 2,755 patients included in the COPD Cohorts Collaborative International Assessment Plus (3CIA+) were explored. A further two cohorts (ESMI AND EGARPOC-2) were added. To validate the CODEX index, the relationship between mortality and the CODEX index was assessed using cumulative/dynamic ROC curves at different follow-up periods, ranging from 3 months up to 10 years. Calibration was performed using univariate and multivariate Cox proportional hazard models and Hosmer-Lemeshow test. A total of 3,321 (87.8% males) patients were included with a mean ± SD age of 66.9 ± 10.5 years, and a median follow-up of 1,064 days (IQR 25-75% 426-1643), totaling 11,190 person-years. The CODEX index was statistically associated with mortality in the short- (≤3 months), medium- (≤1 year) and long-term (10 years), with an area under the curve of 0.72, 0.70 and 0.76, respectively. The mCODEX index performed better in the medium-term (<1 year) than the original CODEX, and similarly in the long-term. In conclusion, CODEX and mCODEX index are good predictors of mortality in patients with COPD, regardless of disease severity or duration of follow-up.

3.
Sci Rep ; 9(1): 2777, 2019 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-30808881

RESUMO

Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established genetic base. In a previous study, using a next generation sequencing approach, we found many rare variants and some functional polymorphisms in genes related to autoinflammatory syndromes (AID): CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A in our BD cohort. Our strategy did not allow us to establish either number of patients with variants, proportion of individuals accumulating them or relationship with other genetic factors. With the goal to answer these questions, the individual samples were sequenced. Additionally, three functional polymorphisms: NLRP3 p.Gln703Lys, NOD2 p.Arg702Trp and p.Val955Ile were genotyped using TaqMan assays. A total of 98 patients (27.6%) carried at least one rare variant and 13 of them (3.7%) accumulated two or three. Functional regression model analysis suggests epistatic interaction between B51 and MEFV (P = 0.003). A suggestive protective association of the minor allele of NOD2 p.Arg702Trp (P = 0.01) was found in both, B51 positive and negative individuals. Therefore, a high percentage of patients with BD have rare variants in AID genes. Our results suggest that the association of MEFV with BD could be modulated by the HLA molecules; whereas the protective effect of NOD2 p.Arg702Trp would be independent of HLA.

4.
J Rheumatol ; 2019 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-30770503

RESUMO

OBJECTIVE: Monotherapy is an option as first-line therapy for pulmonary arterial hypertension (PAH). However, combination therapy is a beneficial alternative. Our objective was to evaluate the efficacy of monotherapy versus combination therapy in patients with systemic sclerosis (SSc)-associated PAH. METHODS: All patients with SSc-associated PAH from the Spanish Scleroderma Registry (RESCLE) were reviewed. Patients were split into 3 groups: monotherapy versus sequential combination versus upfront combination therapy. The primary endpoint was death from any cause at 1, 3, and 5 years from PAH diagnosis. RESULTS: Seventy-six patients (4.2%) out of 1817 had SSc-related PAH. Thirty-four patients (45%) were receiving monotherapy [endothelin receptor antagonist (n = 22; 29%) or phosphodiesterase-5 inhibitors (n = 12; 16%)], 25 (33%) sequential combination, and 17 (22%) upfront combination therapy. A lower forced vital capacity/DLCO in the sequential combination group was reported (2.9 ± 1.1 vs 1.8 ± 0.4 vs 2.3 ± 0.8; p = 0.085) and also a higher mean pulmonary arterial pressure in combination groups (37.2 ± 8.7 mmHg vs 40.8 ± 8.8 vs 46 ± 15.9; p = 0.026) at baseline. Treatment regimen (p = 0.017) and functional class (p = 0.007) were found to be independent predictors of mortality. Sequential combination therapy was found to be an independent protective factor (HR 0.11, 95% CI 0.03-0.51; p = 0.004), while upfront combination therapy showed a trend (HR 0.68, 95% CI 0.23-1.97; p = 0.476). Survival from PAH diagnosis among monotherapy, sequential, and upfront combination groups was 78% versus 95.8% versus 94.1% at 1 year, 40.7% versus 81.5% versus 51.8% at 3 years, and 31.6% versus 56.5% versus 34.5% at 5 years (p = 0.007), respectively. Side effects were not significantly different among groups. CONCLUSION: Combination sequential therapy improved survival in our cohort.

5.
Clin Rheumatol ; 38(4): 1117-1124, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30535994

RESUMO

INTRODUCTION: Our objective was to evaluate the pulmonary hypertension (PH) data for Spanish patients with systemic sclerosis (SSc), define the PH types and determine the associated factors. METHOD: Descriptive study of PH-related data from the multicentre RESCLE registry. Estimated systolic pulmonary artery pressure (esPAP), measured via echocardiogram was considered elevated if ≥ 35 mmHg. Left heart disease (LHD) and interstitial lung disease (ILD) were identified. When performed, data from right heart catheterisation (RHC) were collected. RESULTS: esPAP was elevated in 350 of 808 patients (43.3%). One hundred and forty-four patients (17.8%) were considered to have PH (88 via RHC and the rest due to elevated esPAP along with evidence of significant LHD or ILD): PAH 3.7%, secondary to ILD 8.3%, secondary to LHD 2.8% and unclassified 3%. Prevalence of elevated esPAP was greater in diffuse SSc (dSSc) than in limited scleroderma (lSSc) (50.5 vs. 42.2%, p 0.046). In the group with elevated esPAP, a lower prevalence of anti-centromere antibodies (41.9% vs. 52.3%, p 0.006) and a greater prevalence of anti-topoisomerase-1 antibodies (ATA) (25.1% vs. 18.6%, p 0.04) were observed compared to the group with normal esPAP. Patients with elevated esPAP had a lower rate of digital ulcers (50.6% vs. 60.2%, p 0.007) and esophageal involvement (83.6% vs. 88.7%, p 0.07) and higher rate of renal crisis (4.6% vs. 1.8%, p 0.066). CONCLUSIONS: Prevalence of PAH was lower than expected (3.7%). Probability of having elevated esPAP was higher among patients with dSSc and among those with ATA.


Assuntos
Hipertensão Pulmonar/epidemiologia , Escleroderma Sistêmico/epidemiologia , Adulto , Idoso , Anticorpos Antinucleares , Centrômero/imunologia , Comorbidade , Feminino , Humanos , Hipertensão Pulmonar/imunologia , Masculino , Pessoa de Meia-Idade , Prevalência , Sistema de Registros , Escleroderma Sistêmico/imunologia , Espanha/epidemiologia
6.
Mayo Clin Proc Innov Qual Outcomes ; 2(3): 267-276, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30225460

RESUMO

Objective: To characterize the etiologies and clinical features at diagnosis of patients with hemophagocytic lymphohistiocytosis (HLH) and correlate these baseline features with survival using an etiopathogenically guided multivariable model. Patients and Methods: The Spanish Group of Autoimmune Diseases HLH Study Group, formed in 2013, is aimed at collecting adult patients with HLH diagnosed in internal medicine departments between January 3, 2013, and October 28, 2017. Results: The cohort consisted of 151 patients (91 men; mean age, 51.4 years). After a mean follow-up of 17 months (range, 1-142 months), 80 patients died. Time-to-event analyses for death identified a worse survival curve for patients with neoplasia (P<.001), mixed microbiological infections (P=.02), and more than 1 infection (P=.01) and glucocorticoid monotherapy (P=.02). According to univariate analyses, platelets of less than 100,000/mm3 (hazard ratio [HR], 3.39; 95% CI, 1.37-8.40), leukopenia (HR, 1.81; 95% CI, 1.01-3.23), severe hyponatremia (HR, 1.61; 95% CI, 1.02-2.54), disseminated intravascular coagulation (HR, 1.87; 95% CI, 1.05-3.34), bacterial infection (HR, 1.99; 95% CI, 1.09-3.63), mixed microbiological infections (HR, 3.42; 95% CI, 1.38-8.46), and 2 or more infectious triggers (HR, 2.95; 95% CI, 1.43-6.08) were significantly associated with death. In contrast, peripheral adenopathies (HR, 0.63; 95% CI, 0.40-0.98) and the immunosuppressive drug/intravenous immunoglobulin/biological therapies (HR, 0.44; 95% CI, 0.20-0.96) were protective against all-cause mortality. Multivariable Cox proportional hazards regression analysis identified 2 or more infectious triggers (HR, 3.14; 95% CI, 1.28-7.68) as the only variable independently associated with death. Conclusion: The mortality rate of adult patients diagnosed with HLH exceeds 50%. Infection with more than 1 microbiological agent was the only independent variable associated with mortality irrespective of the underlying disease, epidemiological profile, clinical presentation, and therapeutic management.

8.
Clin Exp Rheumatol ; 2018 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-29745871

RESUMO

OBJECTIVES: To describe the characteristics of patients with Behçet's disease (BD) who presented with venous thrombosis. In addition, we identified the factors associated with this venous involvement and those related with recurrent venous thrombosis. METHODS: Up to January 2015, 544 BD patients from 20 Spanish hospitals had been included in the REGEB (REGistro de la Enfermedad de Behçet as Spanish nomenclature). We selected those patients who presented venous thrombosis. Descriptive analysis was performed and factors related with venous thrombosis were identified. RESULTS: Overall, 99 (18.2%) BD patients had vascular thrombosis, 91 (16.7%) of them (16.7%) involving venous vessels and 18 (19.7%) suffered from venous thrombotic relapse. Lower limbs were the most common location of deep venous thrombosis present in up to 60% of patients. In 12 (13.2%) patients, venous thrombosis affected two vascular territories simultaneously and in 6 (6.6%) the venous and arterial involvement coincided in time. Overall, at the diagnosis of venous thrombosis, 97.6% of patients presented concomitantly other clinical symptoms attributable to BD. In logistic regression multivariate analysis factors associated to venous thrombosis were male sex (Odds ratio [OR] 4.3, 95% confidence interval [CI] 2.5-7.7), erythema nodosum (OR 2.4, 95%CI 1.4-4.1), fever (OR 2.0, 95%CI 1.1-3.8), and central nervous system (CNS) involvement (OR 2.5, 95%CI 1.3-4.8). Considering relapses, CNS involvement was an independent risk factor according logistic regression. However, Cox multivariate analysis did not confirm this finding. CONCLUSIONS: We identified factors related with venous involvement in patients included in the REGEB cohort.

9.
Neurourol Urodyn ; 37(1): 434-439, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28598517

RESUMO

AIMS: To analyze whether episiotomy affects the urogenital hiatal area and the difference in the hiatus at rest and during contraction, as an indirect measurement of the contractile capacity of the levator ani muscle. METHODS: We performed an observational, comparative, retrospective study of primiparous women who had normal vaginal deliveries. The urogenital hiatal area was compared in women with and without episiotomy. All women underwent transperineal ultrasound scanning after delivery, and all the images were analyzed offline by the principal investigator who was blinded to all clinical data. The urogenital hiatal area was measured at rest and during both Valsalva and contraction manoeuvres. The difference in the hiatus at rest and during contraction was also calculated. These scanning variables were compared between the study groups. RESULTS: In total, 194 women were analysed (101 with, and 93 without, episiotomy). There were no statistically significant differences between the groups regarding the area of the hiatus at rest (P = 0.583), on Valsalva (P = 0.158), and on contraction (P = 0.468), or in the difference in the hiatus at rest and during contraction (P = 0.095). CONCLUSIONS: In normal vaginal delivery, neither the area of the urogenital hiatus nor its difference at rest and during contraction, as measured by ultrasound, were modified by performing an episiotomy.

10.
Clin Rheumatol ; 37(4): 999-1009, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29214548

RESUMO

The objective of the study is to determine the importance of the mode of onset as prognostic factor in systemic sclerosis (SSc). Data were collected from the Spanish Scleroderma Registry (RESCLE), a nationwide retrospective multicenter database created in 2006. As first symptom, we included Raynaud's phenomenon (RP), cutaneous sclerosis, arthralgia/arthritis, puffy hands, interstitial lung disease (ILD), pulmonary arterial hypertension (PAH), and digestive hypomotility. A total of 1625 patients were recruited. One thousand three hundred forty-two patients (83%) presented with RP as first symptom and 283 patients (17%) did not. Survival from first symptom in those patients with RP mode of onset was higher at any time than those with onset as non-Raynaud's phenomenon: 97 vs. 90% at 5 years, 93 vs. 82% at 10 years, 83 vs. 62% at 20 years, and 71 vs. 50% at 30 years (p < 0.001). In multivariate analysis, factors related to mortality were older age at onset, male gender, dcSSc subset, ILD, PAH, scleroderma renal crisis (SRC), heart involvement, and the mode of onset with non-Raynaud's phenomenon, especially in the form of puffy hands or pulmonary involvement. The mode of onset should be considered an independent prognostic factor in systemic sclerosis and, in particular, patients who initially present with non-Raynaud's phenomenon may be considered of poor prognosis.


Assuntos
Artralgia/etiologia , Hipertensão Pulmonar/etiologia , Doenças Pulmonares Intersticiais/etiologia , Doença de Raynaud/etiologia , Escleroderma Sistêmico/diagnóstico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Sistema de Registros , Estudos Retrospectivos , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/fisiopatologia , Índice de Gravidade de Doença , Avaliação de Sintomas
11.
Semin Arthritis Rheum ; 47(6): 849-857, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29246416

RESUMO

OBJECTIVE: To assess the prevalence and causes of hepatobiliary involvement (HBI) in systemic sclerosis (SSc), to investigate the clinical characteristics and prognosis of SSc patients with HBI (SSc-HBI) and without HBI (SSc-non-HBI), and to compare both groups according to the cutaneous SSc subsets. METHODS: In all, 1572 SSc patients were collected in the RESCLE registry up to January 2015, and all hepatobiliary disturbances were recorded. We investigated the HBI-related characteristics and survival from the entire SSc cohort and according to the following cutaneous subsets: diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc), and SSc sine scleroderma (ssSSc). RESULTS: Out of 1572, 118 (7.5%) patients had HBI. Primary biliary cholangitis (PBC) was largely the main cause (n = 67, 4.3%), followed by autoimmune hepatitis (n = 19, 1.2%), and anti-mitochondrial negative PBC (n = 6, 0.4%). Other causes of HBI were as follows: secondary liver diseases (n = 11, 0.7%), SSc-related HBI (n = 7, 0.4%), nodular regenerative hyperplasia (n = 3, 0.2%), liver cirrhosis (n = 3, 0.2%), and HBI of unknown origin (n = 2, 0.1%). In multivariate analysis, HBI was independently associated to lesser risk of dcSSc (5.1% vs. 24.4%), and higher frequency of calcinosis (26% vs. 18%), left ventricular diastolic dysfunction (46% vs. 27%), sicca syndrome (51% vs. 29%), and anti-centromere antibodies (ACA, 73% vs. 44%). According to the cutaneous subsets, HBI was associated (1) in lcSSc, to longer time from SSc onset to diagnosis (10.8 ± 12.5 vs. 7.2 ± 9.3 years), sicca syndrome (54% vs. 33%), and ACA (80% vs. 56%); (2) in ssSSc, to sicca syndrome (44% vs. 19%), and (3) in dcSSc, no associations were found. HBI was the cause of death in 2.3% patients but the cumulative survival according to the presence or absence of HBI showed no differences. CONCLUSIONS: HBI prevalence in SSc is 7.5% and dcSSc is the least involved subset. PBC is the main cause of HBI. Patients with SSc-HBI exhibited specific clinical and immunologic profile. Survival is similar for SSc patients with HBI.


Assuntos
Colangite/etiologia , Hepatite Autoimune/etiologia , Escleroderma Sistêmico/complicações , Adulto , Idoso , Colangite/mortalidade , Feminino , Hepatite Autoimune/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Sistema de Registros , Escleroderma Sistêmico/mortalidade , Síndrome de Sjogren/complicações , Síndrome de Sjogren/mortalidade , Espanha , Taxa de Sobrevida
12.
Clin Exp Rheumatol ; 35 Suppl 106(4): 89-97, 2017 Sep-Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28980905

RESUMO

OBJECTIVES: The low overall prevalence of systemic sclerosis (SSc) and the low proportion of male patients have resulted in a scarcity of studies assessing sex differences in Ssc patients, and contradictory results have often been show among those studies that have been performed. METHODS: A prospective study was conducted with the Spanish RESCLE register to analyse the influence of gender on survival of SSc patients. RESULTS: In total, 1506 SSc patients (1341 women, 165 men) were recruited from 21 centres. Older age at onset (OR 1.02), shorter time from onset to diagnosis (OR 0.96), smoking (OR 2.57), interstitial lung disease (ILD) (OR 1.58), less predisposition to sicca syndrome and to antinuclear antibody positivity (OR 0.29 and 0.43, respectively), and higher compliance with the ACR 1980 criteria (OR 1.79) were independently associated with the male sex. During follow-up, 30.4% of men versus 14.6% of women died (p<0.001). Survival at 10 years from the onset of symptoms was 75.3% for men and 92.9% for women (p<0.001), and the difference remained after selecting only SSc-related deaths (85.6% vs. 96.1%, p<0.001). The mortality predictive factors were diffuse SSc (OR 2.26), ILD (OR 1.82), digital ulcers (OR 1.38), tendon friction rubs (OR 1.74), male sex (OR 1.53), increased age at onset (OR 1.13) and isolated PH (considering only deaths from diagnosis), both in the overall (OR 3.63) and female cohorts (OR 3.97). The same risk factors were observed in the male cohort, except for isolated PH and ILD. CONCLUSIONS: The present study confirms the existence of epidemiological, clinical, laboratory and prognostic gender differences in systemic sclerosis patients.


Assuntos
Escleroderma Sistêmico/mortalidade , Causas de Morte , Estudos de Coortes , Feminino , Humanos , Masculino , Prognóstico , Estudos Prospectivos , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/epidemiologia , Caracteres Sexuais
13.
Clin Exp Rheumatol ; 35 Suppl 106(4): 98-105, 2017 Sep-Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28980912

RESUMO

OBJECTIVES: To assess the clinical manifestations and prognosis of Spanish patients with systemic sclerosis (SSc) according to their immunological profile. METHODS: From the Spanish Scleroderma Study Group or RESCLE (Registro de ESCLErodermia as Spanish nomenclature) Registry we selected those patients in which anti-centromere (ACA), anti-topoisomerase I (ATA), and anti-RNA polymerase III (ARA) antibodies had been determined, and a single positivity for each SSc specific antibody was detected. Demographic, clinical, laboratory, and survival data were compared according to the serologic status of these antibodies. RESULTS: Overall, 209 SSc patients were included. In 128 (61%) patients ACA was the only positive antibody, 46 (22%) were only positive for ATA, and 35 (17%) for ARA. Of note, the three groups were mutually exclusive. In univariate analysis, patients with ACA presented more frequently limited cutaneous SSc (lcSSc) (p<0.001), whereas diffuse cutaneous SSc (dcSSc) was the most frequent subtype in patients with ATA (54%) and ARA (62%) (both p<0.001). Positive patients for ARA showed the highest prevalence of joint involvement (p<0.001) and those from ATA group had a higher prevalence of interstitial lung disease (ILD) (p<0.001). Scleroderma renal crisis was more frequent in the ARA group (p<0.001). In multivariate analysis, ACA were associated with female gender and were protective for dcSSc and ILD. ATA were found to be protective for lcSSc and they were independently associated with interstitial reticular pattern. ARA positivity was independently associated with dcSSc. We did not find differences in mortality between the three groups. CONCLUSIONS: In Spanish SSc patients, the presence of SSc specific antibodies conferred a distinctive clinical profile.


Assuntos
Autoanticorpos/análise , Escleroderma Sistêmico/imunologia , Adulto , Idoso , Centrômero/imunologia , Estudos de Coortes , DNA Topoisomerases Tipo I/imunologia , Feminino , Humanos , Doenças Pulmonares Intersticiais/epidemiologia , Masculino , Pessoa de Meia-Idade , Prognóstico , RNA Polimerase III/imunologia , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/mortalidade
14.
Sci Rep ; 7(1): 8453, 2017 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-28814775

RESUMO

Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used. Databases: 1000 Genomes Project Phase 3, Infevers, HGMD and ClinVar and algorithms: PolyPhen2 and SIFT were consulted to collect information of the 62 variants found. All the genes resulted associated using SKAT but only 3 (MVK, NOD2 and PSTPIP1) with C(α) and weighted KBAC. When all the genes are considered, 40 variants were associated to AIDs in clinical databases and 25 were predicted as pathogenic at least by one of the algorithms. Including only MVK, NOD2 and PSTPIP1, the associated to AIDs variants found in BD were 20 and the predicted as pathogenic, 12. The maxima contribution corresponds to NOD2. This study supports influence of rare variants in genes involved in AIDs in the pathogenesis of BD.

15.
Autoimmun Rev ; 16(8): 796-802, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28564618

RESUMO

OBJECTIVES: According to the existence of subclinical organ involvement pre-scleroderma should be divided into two subsets: very early and early disease. Pre-scleroderma patients included in the Spanish Scleroderma Registry (RESCLE) Cohort were reclassified into subsets. Differences were evaluated and the risk of progression to definite systemic sclerosis was estimated. METHODS: The characteristics of very early and early SSc patients were compared. A logistic regression model was used to determine the risk factors of progression. RESULTS: 1632 patients were included, 36 (2.2%) in the very early subset and 111 (6.8%) in the early subset. There were no differences in sex, age at disease onset, duration of Raynaud's phenomenon, antinuclear antibodies or capillaroscopic findings. Three (8.3%) very early SSc patients evolved to definite SSc, 2 (5.6%) of them meeting the ACR/EULAR 2013 criteria, unlike 31 (28%) early SSc patients, 20 (24%) of them meeting the criteria (p=0.034). Digestive involvement was an independent risk factor of progression (OR 17; 95% CI, 6.1-47.2). CONCLUSIONS: The classification of early forms of scleroderma identifies patients with different prognostic risk of progression. The evolution to definite SSc is more frequent in early than in very early SSc patients. Digestive involvement is a risk factor of progression. An active assessment of organ damage in preclinical stages allows a correct classification and risk stratification, with implications for monitoring and treatment.


Assuntos
Escleroderma Sistêmico/diagnóstico , Adulto , Anticorpos Antinucleares/imunologia , Estudos de Coortes , Progressão da Doença , Feminino , Humanos , Masculino , Angioscopia Microscópica , Pessoa de Meia-Idade , Prognóstico , Doença de Raynaud/epidemiologia , Doença de Raynaud/imunologia , Sistema de Registros , Fatores de Risco , Escleroderma Sistêmico/epidemiologia , Escleroderma Sistêmico/imunologia , Espanha/epidemiologia , Adulto Jovem
16.
Int J Chron Obstruct Pulmon Dis ; 12: 1721-1729, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28652724

RESUMO

Current recommendations to consider initiation of palliative care (PC) in COPD patients are often based on an expected poor prognosis. However, this approach is not evidence-based, and which and when COPD patients should start PC is controversial. We aimed to assess whether current suggested recommendations for initiating PC were sufficiently reliable. We identified prognostic variables proposed in the literature for initiating PC; then, we ascertained their relationship with 1-year mortality, and finally, we validated their utility in our cohort of 697 patients hospitalized for COPD exacerbation. From 24 articles of 499 screened, we selected 20 variables and retrieved 48 original articles in which we were able to calculate the relationship between each of them and 1-year mortality. The number of studies where 1-year mortality was detailed for these variables ranged from 9 for previous hospitalizations or FEV1 ≤30% to none for albumin ≤25 mg/dL. The percentage of 1-year mortality in the literature for these variables ranged from 5% to 60%. In the validation cohort study, the prevalence of these proposed variables ranged from 8% to 64%; only 10 of the 18 variables analyzed in our cohort reached statistical significance with Cox regression analysis, and none overcame an area under the curve ≥0.7. We conclude that none of the suggested criteria for initiating PC based on an expected poor vital prognosis in COPD patients in the short or medium term offers sufficient reliability, and consequently, they should be avoided as exclusive criteria for considering PC or at least critically appraised.


Assuntos
Pulmão/fisiopatologia , Cuidados Paliativos , Doença Pulmonar Obstrutiva Crônica/terapia , Assistência Terminal , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Biomarcadores/sangue , Distribuição de Qui-Quadrado , Progressão da Doença , Feminino , Volume Expiratório Forçado , Humanos , Estimativa de Kaplan-Meier , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Admissão do Paciente , Valor Preditivo dos Testes , Modelos de Riscos Proporcionais , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/mortalidade , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Qualidade de Vida , Curva ROC , Reprodutibilidade dos Testes , Fatores de Risco , Albumina Sérica Humana/metabolismo , Fatores de Tempo , Resultado do Tratamento
17.
Int J Antimicrob Agents ; 50(2): 197-202, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28552471

RESUMO

The aim of this study was to determine the epidemiology and risk factors associated with community-onset urinary tract infections (CO-UTIs) due to extended-spectrum ß-lactamase-producing Klebsiella pneumoniae (ESBL-Kp). A cohort study including all consecutive patients with K. pneumoniae CO-UTI identified from January 2010 to December 2014 was conducted. Patients with CO-UTI due to ESBL-Kp were then included as cases in a retrospective case-control-control study; controls were outpatients with CO-UTI caused by non-ESBL-producing Escherichia coli and K. pneumoniae (non-ESBL-Ec and non-ESBL-Kp, respectively). Each control was matched in a 2:1 ratio according to patient age, sex and year of isolation. Genotyping confirming ESBL was performed by multiplex PCR and sequencing. The prevalence of ESBL-Kp CO-UTIs, calculated among all K. pneumoniae CO-UTIs, increased from 2.4% in 2010 to 10.3% in 2014 (P = 0.01). Among cases, 63.8% were truly community-acquired, and CTX-M-15 was the predominant ß-lactamase enzyme type (79.3%). A total of 83 cases and 319 controls were studied. Being a nursing home resident [odds ratio (OR) = 8.8, 95% confidence interval (CI) 2.6-29.4] and previous cephalosporin use (OR = 4.01, 95% CI 1.8-9.2) were risk factors independently associated with CO-UTI due to ESBL-Kp. In conclusion, the prevalence of CO-UTIs due to ESBL-Kp is increasing. In most cases, ESBL-Kp CO-UTIs are community-acquired and produce CTX-M-15 ß-lactamase. Exposure to cephalosporins and being a nursing home resident were risk factors associated with ESBL-Kp CO-UTIs. CTX-M-15-producing K. pneumoniae isolates are emerging in the community.


Assuntos
Doenças Transmissíveis Emergentes/epidemiologia , Infecções Comunitárias Adquiridas/epidemiologia , Infecções por Klebsiella/epidemiologia , Klebsiella pneumoniae/isolamento & purificação , Infecções Urinárias/epidemiologia , beta-Lactamases/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Doenças Transmissíveis Emergentes/microbiologia , Infecções Comunitárias Adquiridas/microbiologia , Feminino , Humanos , Infecções por Klebsiella/microbiologia , Klebsiella pneumoniae/enzimologia , Klebsiella pneumoniae/genética , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Prevalência , Estudos Retrospectivos , Fatores de Risco , Análise de Sequência de DNA , Infecções Urinárias/microbiologia , Adulto Jovem
18.
Clin Exp Rheumatol ; 35 Suppl 106(4): 40-47, 2017 Sep-Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28229826

RESUMO

OBJECTIVES: To determine the changes in the pattern of death of patients with systemic sclerosis (SSc) throughout 20 years. METHODS: Data were collected from the Spanish Scleroderma Registry (RESCLE), retrospective multicentre database from 1990 to 2009. SSc-related and SSc-non related causes of death were assessed. RESULTS: 987 patients were recruited. Overall standardised mortality ratio (SMR) was 2.34 (2.24-2.44). SSc-related causes of death were responsible of 72% of all deaths of those patients diagnosed within 1990-99 vs. 48% within 2000-09 (p=0.006). Relative pulmonary death rate was stable over time (68.1% within 1990-99 vs. 63.9% within 2000-09, p=0.815). Relative renal death rate was decreasing over time (17% within 1990-99 vs. 5.5% within 2000-09, p=0.175). Heart distribution tripled its ratio (12.8% within 1990-99 vs. 30.6% within 2000-09, p=0.058). CONCLUSIONS: SSc-related causes of death were decreasing over time and, among them, pulmonary involvement was the leading cause of death in both decades. The ratio of renal causes decreased since 1990 at the time that the ratio of cardiac causes increased.


Assuntos
Sistema de Registros , Escleroderma Sistêmico/mortalidade , Adulto , Idoso , Causas de Morte , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Espanha/epidemiologia , Fatores de Tempo
19.
Medicine (Baltimore) ; 96(8): e6083, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28225490

RESUMO

The aim of this study was to describe the clinical characteristics of ANCA-associated vasculitides (AAV) at presentation, in a wide cohort of Spanish patients, and to analyze the impact of the vasculitis type, ANCA specificity, prognostic factors, and treatments administered at diagnosis, in the outcome.A total of 450 patients diagnosed between January 1990 and January 2014 in 20 Hospitals from Spain were included. Altogether, 40.9% had granulomatosis with polyangiitis (GPA), 37.1% microscopic polyangiitis (MPA), and 22% eosinophilic granulomatosis with polyangiitis (EGPA). The mean age at diagnosis was 55.6 ±â€Š17.3 years, patients with MPA being significantly older (P < 0.001). Fever, arthralgia, weight loss, respiratory, and ear-nose-throat (ENT) symptoms, were the most common at disease onset. ANCAs tested positive in 86.4% of cases: 36.2% C-ANCA-PR3 and 50.2% P-ANCA-MPO. P-ANCA-MPO was significantly associated with an increased risk for renal disease (OR 2.6, P < 0.001) and alveolar hemorrhage (OR 2, P = 0.010), while C-ANCA-PR3 was significantly associated with an increased risk for ENT (OR 3.4, P < 0.001) and ocular involvement (OR 2.3, P = 0.002). All patients received corticosteroids (CS) and 74.9% cyclophosphamide (CYC). The median follow-up was 82 months (IQR 100.4). Over this period 39.9% of patients suffered bacterial infections and 14.6% opportunistic infections, both being most prevalent in patients with high-cumulated doses of CYC and CS (P < 0.001). Relapses were recorded in 36.4% of cases with a mean rate of 2.5 ±â€Š2.3, and were more frequent in patients with C-ANCA-PR3 (P = 0.012). The initial disease severity was significantly associated with mortality but not with the occurrence of relapses. One hundred twenty-nine (28.7%) patients (74 MPA, 41 GPA, 14 EGPA) died. The mean survival was 58 months (IQR 105) and was significantly lower for patients with MPA (P < 0.001). Factors independently related to death were renal involvement (P = 0.010), cardiac failure (P = 0.029) and age over 65 years old (P < 0.001) at disease onset, and bacterial infections (P < 0.001). An improved outcome with significant decrease in mortality and treatment-related morbidity was observed in patients diagnosed after 2000, and was related to the implementation of less toxic regimens adapted to the disease activity and stage, and a drastic reduction in the cumulated CYC and CS dose.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/tratamento farmacológico , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/mortalidade , Anticorpos Anticitoplasma de Neutrófilos/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/fisiopatologia , Comorbidade , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Prevalência , Recidiva , Estudos Retrospectivos , Espanha/epidemiologia , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
20.
Neurourol Urodyn ; 36(7): 1839-1845, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28102588

RESUMO

AIMS: The pathophysiological mechanism of incontinence is multifactorial. We evaluated the role of 3D-4D ultrasound in the assessment of the fascial supports of the urethra and the urethral sphincter complex (USC) for diagnosing stress urinary incontinence. METHODS: Observational case-control study in women with and without stress urinary incontinence attending a urogynecology service and a general gynecology service. All women were interviewed, examined, and classified according to the Pelvic Organ Prolapse Quantification (POP-Q) and underwent a 3D-4D translabial ultrasound. Fascial supports of the urethra were assessed by tomographic ultrasound and were considered to be intact or absent if it was possible to identify them at eight levels on each side, urethral mobility was assessed on maximal Valsalva in sagittal section and the length and volume of the USC at rest and on maximal Valsalva were determined using the Virtual Organ Computer-aided Analysis (VOCAL) program. Variables were compared between continent and incontinent women. RESULTS: A total of 173 women were examined, 78 continent and 95 incontinent. There was a significant difference in urethral mobility between continent and incontinent women (12.82 mm vs. 21.85 mm, P < 0.001), but there was no significant difference in the percentage of supports affected (43.27% vs. 35.94%, P < 0.070). The length of the USC at rest was significantly shorter (P < 0.001) ​​in incontinent patients. CONCLUSIONS: Ultrasound evaluation of urethral supports does not discriminate between continent and incontinent women. However, the length of the USC at rest was shorter and urethral mobility was higher in incontinent women. Neurourol. Urodynam. 9999:XX-XX, 2016. © 2016 Wiley Periodicals, Inc.


Assuntos
Fáscia/diagnóstico por imagem , Uretra/diagnóstico por imagem , Incontinência Urinária por Estresse/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Humanos , Imagem Tridimensional , Pessoa de Meia-Idade , Tamanho do Órgão , Prolapso de Órgão Pélvico/complicações , Prolapso de Órgão Pélvico/fisiopatologia , Ultrassonografia , Uretra/patologia , Uretra/fisiopatologia , Incontinência Urinária por Estresse/complicações , Incontinência Urinária por Estresse/fisiopatologia , Manobra de Valsalva , Adulto Jovem
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