Estudio descriptivo de las cavidades pleurales residuales complicadas tratadas en un Servicio de Cirugía Torácica

Introducción: Las cavidades pleurales residuales se definen como espacios pleurales causados por una falta de reexpansión pulmonar principalmente secundario a infecciones pleurales o cirugías torácicas. Estas pueden cronificarse y complicarse si no logran resolverse con los tratamientos de primera línea (drenaje torácico, fibrinolíticos o decorticación quirúrgica). Material y Métodos: Estudio descriptivo retrospectivo de los pacientes con cavidades pleurales residuales complicadas (CPRC) en el Servicio de Cirugía Torácica del Complejo Hospitalario Universitario de Albacete desde noviembre del 2004 hasta mayo del 2015. Resultados: Sesenta y tres pacientes fueron diagnosticados, con una mayor frecuencia en hombres (n=57; 90,5%). Del total de pacientes intervenidos en este periodo, el 16,27% de cirugías fueron secundarias a esta patología. La patología infecciosa fue la más frecuente (n=35; 55,6%) y dentro de la post-quirúrgica la neumonectomía (n=8; 42,1%), con una media de días desde la intervención quirúrgica hasta el diagnóstico de 190,7 días. En 43 pacientes (68,3%) el cultivo del líquido pleural fue positivo. En 17 pacientes (27%) se asoció a una fístula broncopleural. De los 63 pacientes, 16 (25,4%) recibieron un único tratamiento quirúrgico (25,4%), mientras que 47 (74,6%), precisaron más de un tratamiento. En 39 casos (61,9%) la cavidad pleural complicada se resolvió por medio de los tratamientos, mientras que no lo hizo en 24 (38,1%) pacientes. Conclusiones: A pesar de ser una patología poco frecuente continua presente en la actualidad, principalmente como complicación postquirúrgica o infecciosa. Los tratamientos descritos hasta la fecha no revelan una alta eficacia.Introduction: Residual pleural cavities are pleural spaces caused by a lack of pulmonary reexpansion mainly secondary to pleural infections or thoracic surgeries. If they can not be solved with first line treatments (thoracic drainage, fibrinolytics or surgical decortication), these can become cronic and complicate. Material and Methods: Retrospective descriptive study of patients with complicated residual pleural cavities at the Thoracic Surgery Service of the “Complejo Hospitalario Universitario de Albacete” from November 2004 to May 2015. Results: Sixty-three patients were diagnosed, showing that incidence was more frequent in men (n=57; 90.5%). 16.27% of the surgeries treated within this period were secondary to this pathology. The infectious pathology was the most frequent (n = 35; 55.6%), whereas within the postoperative group, it was pneumonectomy (n = 8; 42.1%), with 190.7 days in average from surgical intervention to the diagnosis. In 43 patients (68.3%), the pleural fluid culture was positive. In 17 patients (27%), it was associated with a bronchopleural fistula. From the 63 patients, 16 (25.4%) received a single surgical treatment (25.4%), while 47 (74.6%) required more than one treatment. In 39 cases (61.9%), the complicated pleural cavity was resolved, whereas in 24 (38.1%) patients it wasn’t. Conclusions: Despite it being a rare pathology, it is still present today, mainly as a post-surgical or infectious complication. To date, the treatments described haven’t exhibited high efficacy

Validación pronóstica según los criterios de la GesEPOC 2017

Introduction: The Spanish COPD guidelines (GesEPOC) have been recently modified. The aim of this study is to assess this revision and evaluate the prognosis of patients according to the new classification of severity. Methods: A total of 700 COPD patients (83.9% men) were prospectively followed up for a mean period of 5 years in tertiary hospitals in Spain and the USA. Anthropometric data, lung function tests, dyspnea (according to the mMRC scale), BODE and Charlson index were collected. We calculated mortality at 5 years following the risk criteria proposed by the new GesEPOC. Results: Mean age was 66 ± 9.6 years and mean FEV1% was 59.7 ± 20.2. The proportion of patients in the low-risk group was 40.43%. Patients in the high-risk group had a significantly higher BODE index than those in the low-risk group (2.92 ± 0, 66 vs. 0.52 ± 1.91, p < 0.001), while the Charlson index score was similar in both groups. Mortality at 60 months was significantly higher in the high-risk group (31.7% vs. 15.5%, p < 0.001). Dyspnea and FEV1% were also independent predictors of mortality (p < 0.001), and neither was inferior to the risk classification proposed by GesEPOC. Conclusions: The new severity index proposed by GesEPOC accurately predicts 5-year mortality. However, dyspnea and FEV1% have the same strength in predicting mortality

GWAS for Systemic Sclerosis Identifies Multiple Risk Loci and Highlights Fibrotic and Vasculopathy Pathways

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.Funding: This work was supported by Spanish Ministry of Economy and Competitiveness (grant ref. SAF2015-66761-P), Consejeria de Innovacion, Ciencia y Tecnologia, Junta de Andalucía (P12-BIO-1395), Ministerio de Educación, Cultura y Deporte through the program FPU, Juan de la Cierva fellowship (FJCI-2015-24028), Red de Investigación en Inflamación y Enfermadades Reumaticas (RIER) from Instituto de Salud Carlos III (RD16/0012/0013), and Scleroderma Research Foundation and NIH P50-HG007735 (to H.Y.C.). H.Y.C. is an Investigator of the Howard Hughes Medical Institute. PopGen 2.0 is supported by a grant from the German Ministry for Education and Research (01EY1103). M.D.M and S.A. are supported by grant DoD W81XWH-18-1-0423 and DoD W81XWH-16-1-0296, respectively

A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease

Abstract: Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases

GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments