Eur J Hum Genet
January 2025
Idiopathic pulmonary fibrosis (IPF) is a progressive, late-onset disease marked by lung scarring and irreversible loss of lung function. Genetic factors significantly contribute to both familial and sporadic cases, yet there are scarce evidence-based studies highlighting the benefits of integrating genetics into the management of IPF patients. In this study, we performed whole-exome sequencing and telomere length (TL) measurements on IPF patients and their relatives.
View Article and Find Full Text PDFBackground: Community-acquired pneumonia (CAP) is associated with high morbidity and hospitalization rate. In infectious diseases, host genetics plays a critical role in susceptibility and immune response, and the immune pathways involved are highly dependent on the microorganism and its route of infection. Here we aimed to identify genetic risk loci for CAP using a case-control genome-wide association study (GWAS).
View Article and Find Full Text PDFThe problems posed by medical education in Spain are diverse. This paper analyzes the system currently used to select candidates who will be admitted to a public faculty of medicine in Spain and some issues arising from the unprecedented increase in both public and private medical schools in our country. The importance of generic competencies in today's medicine and the need to return to a core design in specialist training are other aspects that are discussed.
View Article and Find Full Text PDFBackground: Although oropharyngeal dysphagia (OD) is a common finding in patients with community-acquired pneumonia (CAP), specific recommendations are not provided in the current clinical guidelines.
Objectives: To estimate the prevalence of OD and its associated factors among patients hospitalized for CAP and to assess one-year outcomes according to the presence or absence of OD.
Methods: We studied 226 patients hospitalized for CAP and 226 patients hospitalized for respiratory conditions other than CAP.
Autoantibodies neutralizing type I interferons (IFNs) can underlie critical COVID-19 pneumonia and yellow fever vaccine disease. We report here on 13 patients harboring autoantibodies neutralizing IFN-α2 alone (five patients) or with IFN-ω (eight patients) from a cohort of 279 patients (4.7%) aged 6-73 yr with critical influenza pneumonia.
View Article and Find Full Text PDFThe Publisher regrets that this article is an accidental duplication of an article that has already been published, https://doi.org/10.1016/j.
View Article and Find Full Text PDFDrug-resistant tuberculosis, especially those with resistance to rifampicin (RR-TB), has become one of the main obstacles to achieving the dream of eradicating tuberculosis. Furthermore, it is necessary to combine three or four different drugs in the attempt to cure TB, however, unfortunately, there are few available that can be considered genuinely effective. Fortunately, the notable worldwide increase in RR-TB in recent years has led to the investment of resources in the development of new drugs for TB, and other drugs investigated for other diseases have been successfully tested on TB.
View Article and Find Full Text PDFMannose-binding lectin (MBL)-associated serine protease-2 (MASP-2) is an indispensable enzyme for the activation of the lectin pathway of complement. Its deficiency is classified as a primary immunodeficiency associated to pyogenic bacterial infections, inflammatory lung disease, and autoimmunity. In Europeans, MASP-2 deficiency, due to homozygosity for c.
View Article and Find Full Text PDFThe pathogenesis of life-threatening influenza A virus (IAV) disease remains elusive, as infection is benign in most individuals. We studied two relatives who died from influenza. We Sanger sequenced GATA2 and evaluated the mutation by gene transfer, measured serum cytokine levels, and analyzed circulating T- and B-cells.
View Article and Find Full Text PDFGran Canaria Island is frequently impacted by Saharan dust, a health hazard of particular concern to the island population and health agencies. Airborne mineral dust has the severest impact on the higher age groups of the population, and those with respiratory conditions; despite that, on average, the ambient particulate matter (PM) concentrations fall within international PM guidelines. During 2010 and 2011, an epidemiological survey, in parallel with an air quality study, was conducted at the Dr Negrín hospital in Gran Canaria.
View Article and Find Full Text PDFCommunity-acquired pneumonia (CAP) is a serious infection that may occasionally rapidly evolve provoking organ dysfunctions. We aimed to characterize CAP presenting with organ dysfunctions at the emergency room, with regard to host factors and causative microorganisms, and its impact on 30-day mortality. 460 of 4070 (11.
View Article and Find Full Text PDFBackground And Objective: The objective of this study was to evaluate the effect of age and comorbidities, smoking and alcohol use on microorganisms in patients with community-acquired pneumonia (CAP).
Methods: A prospective multicentre study was performed with 4304 patients. We compared microbiological results, bacterial aetiology, smoking, alcohol abuse and comorbidities in three age groups: young adults (<45 years), adults (45-64 years) and seniors (>65 years).
Background: Severe sepsis, may be present on hospital arrival in approximately one-third of patients with community-acquired pneumonia (CAP).
Objective: To determine the host characteristics and micro-organisms associated with severe sepsis in patients hospitalized with CAP.
Results: We performed a prospective multicenter cohort study in 13 Spanish hospital, on 4070 hospitalized CAP patients, 1529 of whom (37.
Rationale: Detection of the C-polysaccharide of Streptococcus pneumoniae in urine by an immune-chromatographic test is increasingly used to evaluate patients with community-acquired pneumonia.
Objectives: We assessed the sensitivity and specificity of this test in the largest series of cases to date and used logistic regression models to determine predictors of positivity in patients hospitalized with community-acquired pneumonia.
Methods: We performed a multicenter, prospective, observational study of 4,374 patients hospitalized with community-acquired pneumonia.
Objective: The purpose of this study was to investigate student's perceptions of Educational Climate (EC) in Spanish medical schools, comparing various aspects of EC between the 2nd (preclinical) and the 4th (clinical) years to detect strengths and weaknesses in the on-going curricular reform.
Methods: This study utilized a cross-sectional design and employed the Spanish version of the "Dundee Ready Education Environment Measure" (DREEM). The survey involved 894 2nd year students and 619 4th year students from five Spanish medical schools.
Introduction: Inherited variability in host immune responses influences susceptibility and outcome of Influenza A virus (IAV) infection, but these factors remain largely unknown. Components of the innate immune response may be crucial in the first days of the infection. The collectins surfactant protein (SP)-A1, -A2, and -D and mannose-binding lectin (MBL) neutralize IAV infectivity, although only SP-A2 can establish an efficient neutralization of poorly glycosylated pandemic IAV strains.
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