21 research outputs found

    Corrigendum: Suitability of potyviral recombinant virus-like particles bearing a complete food allergen for immunotherapy vaccines(Front. Immunol., (2023), 13, (986823), 10.3389/fimmu.2022.986823)

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    In the published article, there was an error in the author list, and author Marina Amores-Borge was erroneously excluded. The corrected author list appears below. “Diego Pazos-Castro, Clémence Margain, Zulema Gonzalez-Klein, Marina Amores- Borge, Carmen Yuste-Calvo, Maria Garrido-Arandia, Lucia Zurita, Vanesa Esteban, Jaime Tome-Amat, Araceli Diaz-Perales, Fernando Ponz”In the published article, there was an error. The missing author was not included in the Author Contributions section. A correction has been made to Author contributions. This sentence previously stated: “DP-C: Conceptualization, investigation, writing original draft. CM: Investigation. ZG-K: Conceptualization, investigation, writing review. CY-C: Investigation. MG-A: Investigation, writing review. LZ: Investigation. VE: Writing review, resources, funding acquisition. JT-A: Conceptualization, investigation, writing original draft. AD-P: Conceptualization, writing original draft, resources, funding acquisition. FP: Conceptualization, writing review,resources, funding acquisition. All authors contributed to the article and approved the submitted version.” The corrected sentence appears below: “DP-C: Conceptualization, investigation, writing original draft. CM: Investigation. ZG-K: Conceptualization, investigation, writing review. MA-B: Investigation. CY-C: Investigation. MG-A: Investigation, writing review. LZ: Investigation. VE: Writing review, resources, funding acquisition. JT-A: Conceptualization, investigation, writing original draft. AD-P: Conceptualization, writing original draft, resources, funding acquisition. FP: Conceptualization, writing review, resources, funding acquisition. All authors contributed to the article and approved the submitted version.” The authors apologize for these errors and state that they do not change the scientific conclusions of the article in any way. The original article has been updated.Peer reviewe

    Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

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    BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. METHODS: We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes. Pathogenic and likely pathogenic variants were classified using American College of Medical Genetics (ACMG) consensus guidelines. The yield of combined molecular autopsy and clinical evaluation in 82 surviving families was evaluated. A gene-level rare variant association analysis was conducted in SADS cases versus controls. RESULTS: A clinically actionable pathogenic or likely pathogenic variant was identified in 40 of 302 cases (13%). The main etiologies established were catecholaminergic polymorphic ventricular tachycardia and long QT syndrome (17 [6%] and 11 [4%], respectively). Gene-based rare variants association analysis showed enrichment of rare predicted deleterious variants in RYR2 (p = 5 × 10(-5)). Combining molecular autopsy with clinical evaluation in surviving families increased diagnostic yield from 26% to 39%. CONCLUSIONS: Molecular autopsy for electrical disorder and cardiomyopathy genes, using ACMG guidelines for variant classification, identified a modest but realistic yield in SADS. Our data highlighted the predominant role of catecholaminergic polymorphic ventricular tachycardia and long QT syndrome, especially the RYR2 gene, as well as the minimal yield from other genes. Furthermore, we showed the enhanced utility of combined clinical and genetic evaluation

    Alt a 1 Promotes Allergic Asthma In Vivo Through TLR4-Alveolar Macrophages

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    12 Pág. Centro de Biotecnología y Genómica de Plantas (CBGP)This research was funded by the Spanish Ministry of Science and Innovation through the project LISENTRA, granted by the Spanish Research State Agency (PID2020-113629RB00/AEI/10.13039/501100011033). GH-R was granted by funding from the European Commission through the project AllerScreening, granted within the R&D framework programme Horizon2020 (H2020-NMBP-X- KET-2017-768641). DP-C was granted by Universidad Politécnica de Madrid and Banco Santander for a predoctoral Programa Propio grant. JT-A and ZG-K were granted by funding from the Community of Madrid included in the project FOODAL (FOODAL-CM; S2018/BAA-4574) co-funded by ESF and ERDF R&D projects call Tecnologías 2018. This work was also supported by Instituto de Salud Carlos III (ISCIII) co-funded by FEDER Thematic Networks and Cooperative Research Centers: ARADYAL (RD16/0006/0003; RD16/0006/0013).Peer reviewe

    Vigorous Exercise in Patients With Hypertrophic Cardiomyopathy

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    IMPORTANCE: Whether vigorous intensity exercise is associated with an increase in risk of ventricular arrhythmias in individuals with hypertrophic cardiomyopathy (HCM) is unknown. OBJECTIVE: To determine whether engagement in vigorous exercise is associated with increased risk for ventricular arrhythmias and/or mortality in individuals with HCM. The a priori hypothesis was that participants engaging in vigorous activity were not more likely to have an arrhythmic event or die than those who reported nonvigorous activity. DESIGN, SETTING, AND PARTICIPANTS: This was an investigator-initiated, prospective cohort study. Participants were enrolled from May 18, 2015, to April 25, 2019, with completion in February 28, 2022. Participants were categorized according to self-reported levels of physical activity: sedentary, moderate, or vigorous-intensity exercise. This was a multicenter, observational registry with recruitment at 42 high-volume HCM centers in the US and internationally; patients could also self-enroll through the central site. Individuals aged 8 to 60 years diagnosed with HCM or genotype positive without left ventricular hypertrophy (phenotype negative) without conditions precluding exercise were enrolled. EXPOSURES: Amount and intensity of physical activity. MAIN OUTCOMES AND MEASURES: The primary prespecified composite end point included death, resuscitated sudden cardiac arrest, arrhythmic syncope, and appropriate shock from an implantable cardioverter defibrillator. All outcome events were adjudicated by an events committee blinded to the patient\u27s exercise category. RESULTS: Among the 1660 total participants (mean [SD] age, 39 [15] years; 996 male [60%]), 252 (15%) were classified as sedentary, and 709 (43%) participated in moderate exercise. Among the 699 individuals (42%) who participated in vigorous-intensity exercise, 259 (37%) participated competitively. A total of 77 individuals (4.6%) reached the composite end point. These individuals included 44 (4.6%) of those classified as nonvigorous and 33 (4.7%) of those classified as vigorous, with corresponding rates of 15.3 and 15.9 per 1000 person-years, respectively. In multivariate Cox regression analysis of the primary composite end point, individuals engaging in vigorous exercise did not experience a higher rate of events compared with the nonvigorous group with an adjusted hazard ratio of 1.01. The upper 95% 1-sided confidence level was 1.48, which was below the prespecified boundary of 1.5 for noninferiority. CONCLUSIONS AND RELEVANCE: Results of this cohort study suggest that among individuals with HCM or those who are genotype positive/phenotype negative and are treated in experienced centers, those exercising vigorously did not experience a higher rate of death or life-threatening arrhythmias than those exercising moderately or those who were sedentary. These data may inform discussion between the patient and their expert clinician around exercise participation
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