Polygenic risk score comparator (PRScomp): Test population vs. worldwide populations.

Background: Polygenic risk scores (PRS) are a powerful tool for predicting an individual's genetic risk for complex diseases.

Methods: We have developed a web service (PRScomp) as a user-friendly tool to evaluate PRS of the user own population and compare it with worldwide populations.

Results: A disease/trait database has been constructed from GWAS Catalog summary statistics.

The power of geohistorical boundaries for modeling the genetic background of human populations: The case of the rural catalan Pyrenees.

The genetic variation of the European population at a macro-geographic scale follows genetic gradients which reflect main migration events. However, less is known about factors affecting mating patterns at a micro-geographic scale. In this study we have analyzed 726,718 autosomal single nucleotide variants in 435 individuals from the catalan Pyrenees covering around 200 km of a vast and abrupt region in the north of the Iberian Peninsula, for which we have information about the geographic origin of all grand-parents and parents.

Results in mediastinal lymph node staging of surgical lung cancer: Data from the prospective cohort of the Spanish Video-Assisted Thoracic Surgery Group.

Objectives: The objective of this study was to assess the diagnostic performance of combined computerised tomography (CT) and positron emission tomography (PET) in mediastinal staging of surgical lung cancer based on data obtained from the prospective cohort of the Spanish Group for Video-Assisted Thoracic Surgery (GEVATS).

Methods: A total of 2782 patients underwent surgery for primary lung carcinoma. We analysed diagnostic success in mediastinal lymph node staging (cN2) using CT and PET.

Correlation between preoperative CT scan and lung metastases according to surgical approach in patients with colorectal cancer.

Introduction: The number of lung metastases (M1) of colorectal carcinoma (CRC) in relation to the findings of computed tomography (CT) is the object of study.

Methods: Prospective and multicenter study of the Spanish Group for Surgery of CRC lung metastases (GECMP-CCR). The role of CT in the detection of pulmonary M1 is evaluated in 522 patients who underwent a pulmonary metastasectomy for CRC.

National evaluation of risk factors for unplanned readmission after lung resection.

Objectives: Unplanned readmission is defined as the return to inpatient hospitalization within 30 days after discharge. Worldwide, its incidence after lung resection ranges between 8% and 50%, and it has been shown to impact both patient recovery and healthcare resources. Our goal was to identify the risk factors to prioritize early follow-ups.

Incidence of COVID-19 in patients exposed to chloroquine and hydroxychloroquine: results from a population-based prospective cohort in Catalonia, Spain, 2020.

BackgroundSeveral clinical trials have assessed the protective potential of chloroquine and hydroxychloroquine. Chronic exposure to such drugs might lower the risk of infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) or severe coronavirus disease (COVID-19).AimTo assess COVID-19 incidence and risk of hospitalisation in a cohort of patients chronically taking chloroquine/hydroxychloroquine.

Correlation between preoperative CT scan and lung metastases according to surgical approach in patients with colorectal cancer.

Introduction: The number of lung metastases (M1) of colorectal carcinoma (CRC) in relation to the findings of computed tomography (CT) is the object of study.

Methods: Prospective and multicenter study of the Spanish Group for Surgery of CRC lung metastases (GECMP-CCR). The role of CT in the detection of pulmonary M1 is evaluated in 522 patients who underwent a pulmonary metastasectomy for CRC.

Lack of protective effect of chloroquine derivatives on COVID-19 disease in a Spanish sample of chronically treated patients.

Background: The search for a SARS-CoV-2 treatment has emerged as a worldwide priority. We evaluated the role of chloroquine and its derivatives in COVID-19 in Spanish individuals.

Methods: We performed a survey addressed to patients regularly taking chloroquine and its derivatives for the control of their autoimmune diseases.

De novo assembly of the Brown trout (Salmo trutta m. fario) brain and muscle transcriptome: transcript annotation, tissue differential expression profile and SNP discovery.

Objectives: The Brown trout is a salmonid species with a high commercial value in Europe. Life history and spawning behaviour include resident (Salmo trutta m. fario) and migratory (Salmo trutta m.

Straightforward protocol for allele-specific chromatin conformation capture.

A key advance in our understanding of gene regulation came with the finding that the genome undergoes three-dimensional nuclear folding in a genetically determined process. This 3D conformation directly influences the association between enhancers and their target promoters. This complex interplay has been proven to be essential for gene regulation, and genetic variants affecting this process have been associated to human diseases.

Toll-Like Receptor 2 Promoter -196 to -174 Deletion Affects CD4 Levels Along Human Immunodeficiency Virus Infection Progression.

Toll-like receptor 2 (TLR2) plays a key role in innate immune response recognizing molecular patterns expressed by pathogens. rs111200466 is a TLR2 promoter insertion/deletion polymorphism with contradictory data about its role in human immunodeficiency virus type 1 (HIV-1) infection. We analyzed rs111200466 in HIV-1 disease progression and showed a correlation with a faster progression to the CD4+ < 200 cells/μL outcome for deletion allele carriers (Cox regression analysis: hazard ratio, 2.

Outreach HIV testing using oral fluid and online consultation of the results: Pilot intervention in Catalonia.

Introduction: The aim of the intervention was to describe the feasibility and cost-effectiveness of offering HIV testing in outreach interventions and subsequent consultation of the results through a secure web page.

Methods: The HIV test was offered "in situ" to men who have sex with men (MSM), migrant sex workers and trans women recruited in places of leisure and sex. Four collaborating NGOs recruited the participants and assisted them to register on the study website (www.

A Multidisciplinary Proposal for a Diagnostic Algorithm in Idiopathic Pulmonary Fibrosis: The Role of Transbronchial Cryobiopsy.

The diagnosis of idiopathic pulmonary fibrosis (IPF) is a complex process that requires the multidisciplinary integration of clinical, radiological, and histological variables. Due to its diagnostic yield, surgical lung biopsy has been the recommended procedure for obtaining samples of lung parenchyma, when required. However, given the morbidity and mortality of this technique, alternative techniques which carry a lower risk have been explored.

Trained dogs can identify malignant solitary pulmonary nodules in exhaled gas.

Objectives: To investigate the capacity of a trained dog to identify LC in patients with malignant SPN.

Methods: We collected 90 exhaled gas samples from 30 patients with SPN (3 samples/patient). As controls we used 61 healthy volunteers and 18 COPD patients without SNP or LC, in each of whom we collected 5 exhaled gas samples (n = 395).

Perioperative outcome of lung cancer surgery in women: results from a Spanish nationwide prospective cohort study.

Background: To assess possible differences in the perioperative profile between men and women in lung cancer surgery.

Methods: A prospective cohort multicenter study was design, in which consecutive patients undergoing curative intent surgery for lung cancer in 24 Thoracic Services throughout Spain were included. Clinical features, tumor- and surgery-related data, postoperative complications, and mortality were recorded.

Genetic associations of the vitamin D and antiviral pathways with natural resistance to HIV-1 infection are influenced by interpopulation variability.

Vitamin D (VitD) may modulate anti-HIV-1 responses modifying the risk to acquire the HIV-1-infection. We performed a nested case-control exploratory study involving 413 individuals; HIV-1-exposed seropositives (cases) and seronegatives (HESN) (controls) from three cohorts: sexually-exposed from Colombia and Italy and parenterally-exposed from Spain. The association and interactions of 139 variants in 9 VitD pathway genes, and in 14 antiviral genes with resistance/susceptibility (R/S) to HIV-1 infection was evaluated.

Vitamin D Receptor polymorphisms and risk of enveloped virus infection: A meta-analysis.

Introduction: Vitamin-D plays a role regulating the immune response against to viral infection. In this sense, vitamin-D deficiency may confer increased susceptibility to enveloped virus infection such as HIV, Hepatitis, Dengue and Respiratory Syncytial virus infection, among others. Vitamin D activity is mediated by its receptor (VDR), which acts as a transcription factor modulating the expression of genes triggering the response against viruses.

A common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction.

Previous reports have proposed that personality may have played a role on human Out-Of-Africa migration, pinpointing some genetic variants that were positively selected in the migrating populations. In this work, we discuss the role of a common copy-number variant within the SIRPB1 gene, recently associated with impulsive behavior, in the human Out-Of-Africa migration. With the analysis of the variant distribution across forty-two different populations, we found that the SIRPB1 haplotype containing duplicated allele significantly correlated with human migratory distance, being one of the few examples of positively selected loci found across the human world colonization.

Differential metabolic profiles associated to movement behaviour of stream-resident brown trout (Salmo trutta).

The mechanisms that can contribute in the fish movement strategies and the associated behaviour can be complex and related to the physiology, genetic and ecology of each species. In the case of the brown trout (Salmo trutta), in recent research works, individual differences in mobility have been observed in a population living in a high mountain river reach (Pyrenees, NE Spain). The population is mostly sedentary but a small percentage of individuals exhibit a mobile behavior, mainly upstream movements.

Common haplotypes in CD209 promoter and susceptibility to HIV-1 infection in intravenous drug users.

Introduction: CD209 is a receptor expressed in the dendritic cells involved in recognition of oligosaccharides present in several pathogens with a relevant impact on human health. SNPs located in the promoter region have been associated with HIV-1 susceptibility, although this finding has not been replicated in other populations. The objective of this study is to evaluate the association of CD209 promoter haplotypes with risk of HIV-1 infection in a cohort of Spanish male intravenous drug users (IDU) infected with hepatitis C virus (HCV) and to characterize the phenotypic effects of the associated variants.

Role of major resection in pulmonary metastasectomy for colorectal cancer in the Spanish prospective multicenter study (GECMP-CCR).

Background: Patients with pulmonary metastases from colorectal cancer (CRC) may benefit from aggressive surgical therapy. The objective of this study was to determine the role of major anatomic resection for pulmonary metastasectomy to improve survival when compared with limited pulmonary resection.

Patients And Methods: Data of 522 patients (64.

Safety and Tolerability of Alveolar Type II Cell Transplantation in Idiopathic Pulmonary Fibrosis.

Background: Idiopathic pulmonary fibrosis (IPF) is a progressive and fatal lung disease with limited response to currently available therapies. Alveolar type II (ATII) cells act as progenitor cells in the adult lung, contributing to alveolar repair during pulmonary injury. However, in IPF, ATII cells die and are replaced by fibroblasts and myofibroblasts.

Experience with the Nuss technique for the treatment of Pectus Excavatum in Spanish Thoracic Surgery Departments.

Introduction: Although the Nuss technique revolutionized the surgical treatment of pectus excavatum, its use has not become widespread in our country. The aim of this study was to analyze the current use of this technique in a sample of Thoracic Surgery Departments in Spain.

Methods: Observational rectrospective multicentric study analyzing the main epidemiological aspects and clinical results of ten years experience using the Nuss technique.

Minimally invasive treatment of pectus excavatum.

Pectus excavatum (PE) is the most common congenital chest wall deformity. It consists of a concavity of the sternum, and the costal cartilages derived from an unbalanced growth of the costochondral regions of the anterior chest wall. The standard operative treatment for PE has been the Ravitch procedure.

IFNL4 rs368234815 polymorphism is associated with innate resistance to HIV-1 infection.

The interferon (IFN)L4 polymorphism rs368234815 is associated with hepatitis C virus (HCV) spontaneous clearance and response to IFN-based treatments. The role of this polymorphism in HIV-1 infection is controversial. We investigated whether genetic variation at IFNL4 is associated to HIV-1 acquisition.