Publications by authors named "Pardo-Seco J"

Article Synopsis
  • Food protein-induced enterocolitis syndrome (FPIES) is a food allergy mostly affecting infants, characterized by severe vomiting and shock, and its diagnosis can be delayed due to unclear genetic markers.
  • This study analyzed the genomes of 41 FPIES patients, identifying significant genetic variants linked to the syndrome, including genes that may influence immune response and gut health.
  • The results enhance understanding of FPIES' genetic basis and could pave the way for better diagnosis, treatment, and prevention strategies in the future.
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Background: Interferons (IFNs) represent a first-line defense against viruses and other pathogens. It has been shown that an impaired and uncontrolled release of these glycoproteins can result in tissue damage and explain severe progression of coronavirus disease 2019 (COVID-19). However, their potential role in Long-COVID syndrome (LC) remains debateable.

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Summary: Most tools for normalizing NanoString gene expression data, apart from the default NanoString nCounter software, are R packages that focus on technical normalization and lack configurable parameters. However, content normalization is the most sensitive, experiment-specific, and relevant step to preprocess NanoString data. Currently this step requires the use of multiple tools and a deep understanding of data management by the researcher.

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COVID-19 vaccine uptake varied across countries, in part due to vaccine hesitancy fueled by a lack of trustworthy information. To help health workers provide evidence-based answers to common questions about COVID-19 vaccines and vaccination, and thereby, assist individuals´ decisions on vaccine acceptance, COVID-19 InfoVaccines, a joint WHO-EU project, was launched in February 2021 to support COVID-19 vaccine rollout in 6 Eastern European countries. COVID-19 InfoVaccines was made available in seven languages and shared on social media networks.

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  • Nirsevimab has been approved for universal RSV prevention in infants, with a study (NIRSE-GAL) launched in Galicia in September 2023 to assess its effectiveness against various RSV-related health issues.
  • The study will monitor infants during the RSV season, focusing on different groups including newborns and those at high risk, and will track outcomes until significant events occur or the study concludes.
  • Data analysis will utilize sophisticated models and will include safety monitoring of nirsevimab, with results communicated through scientific publications and conferences.
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Article Synopsis
  • Galicia, Spain, launched a program in September 2023 to give nirsevimab for RSV prevention in infants, focusing on newborns, those under 6 months, and high-risk children aged 6-24 months.
  • The interim analysis of the study, using data from Sept 25 to Dec 31, 2023, assesses nirsevimab's effectiveness in preventing different levels of RSV-related hospitalizations and complications.
  • The study compares the results with data from previous RSV seasons to calculate how many cases of hospitalization were potentially avoided due to the immunization campaign.
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  • The study investigates the impact of respiratory syncytial virus (RSV) on infants, highlighting that the effects go beyond just hospitalization and require better understanding for future healthcare planning.
  • Researchers analyzed data from 6626 children, comparing those hospitalized with severe RSV to those who weren't, focusing on healthcare visits and prescriptions related to respiratory issues.
  • Results showed that severe RSV significantly increased visits to primary healthcare for conditions like wheezing and lower respiratory infections, indicating a substantial burden even after initial hospitalization.
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After the use of facemasks, other isolation measures enacted during the SARS-CoV-2 pandemic were lifted, respiratory pathogens, such as RSV, reappeared, but until the November 2023 WHO alert for China, had virtually disappeared. After observing a similar reappearance in our hospital, a retrospective analysis of the number of positive tests. Between 2018 and December 2023, 1619 PCR tests were ordered and 43 (2.

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Extensive literature has explored the beneficial effects of music in age-related cognitive disorders (ACD), but limited knowledge exists regarding its impact on gene expression. We analyzed transcriptomes of ACD patients and healthy controls, pre-post a music session (n = 60), and main genes/pathways were compared to those dysregulated in mild cognitive impairment (MCI) and Alzheimer's disease (AD) as revealed by a multi-cohort study (n = 1269 MCI/AD and controls). Music was associated with 2.

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Background: Studies on vaccine effectiveness (VE) against COVID-19 in the pediatric population are outgoing. We aimed to quantify VE against SARS-CoV-2 in two pediatric age groups, 5-11 and 12-17-year-old, while considering vaccine type, SARS-CoV-2 variant, and duration of protection.

Methods: A population-based test-negative control study was undertaken in Galicia, Spain.

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Background: Progressive osseous heteroplasia (POH) is an ultrarare genetic disorder characterized by an inactivating mutation in the gene that causes heterotopic ossification. Inhibition of the mammalian target of the rapamycin (mTOR) signalling pathway has been proposed as a therapy for progressive bone fibrodysplasia and non-genetic forms of bone heteroplasia. Herein, we describe the impact of using Everolimus as a rescue therapy for an identical twin girl exhibiting an aggressive clinical phenotype of POH.

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Establishing the timeframe when a particular virus was circulating in a population could be useful in several areas of biomedical research, including microbiology and legal medicine. Using simulations, we demonstrate that the circulation timeframe of an unknown SARS-CoV-2 genome in a population (hereafter, estimated time of a queried genome [QG]; ) can be easily predicted using a phylogenetic model based on a robust reference genome database of the virus, and information on their sampling dates. We evaluate several phylogeny-based approaches, including modeling evolutionary (substitution) rates of the SARS-CoV-2 genome (~10 substitutions/nucleotide/year) and the mutational (substitutions) differences separating the QGs from the reference genomes (RGs) in the database.

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Article Synopsis
  • * This study analyzed rare genetic variants by combining data from 21 cohorts worldwide, involving over 5,000 severe cases and 571,000 controls.
  • * A significant finding showed that a rare harmful variant in the TLR7 gene greatly increases the risk of severe COVID-19, indicating that rare variants could offer valuable insights for understanding and treating the disease.
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There is abundant epidemiological data indicating that the incidence of severe cases of coronavirus disease (COVID-19) is significantly higher in males than females worldwide. Moreover, genetic variation at the X-chromosome linked TLR7 gene has been associated with COVID-19 severity. It has been suggested that the sex-biased incidence of COVID-19 might be related to the fact that TLR7 escapes X-chromosome inactivation during early embryogenesis in females, thus encoding a doble dose of its gene product compared to males.

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Background: Research on the effectiveness of COVID-19 booster-based vaccine schedule is ongoing and real-world data on vaccine effectiveness (VE) in comorbid patients are limited. We aimed to estimate booster dose VE against SARS-CoV-2 infection and COVID-19 severity in the general population and in comorbid patients.

Method: A retrospective test-negative control study was undertaken in Galicia-Spain (December 2020-November 2021).

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Article Synopsis
  • RSV infection in young children is linked to later respiratory issues like wheezing and asthma, and researchers are examining the role of DNA methylation in this connection.
  • A study tracked infants with RSV over three years, categorizing them based on their health outcomes into recurrent wheezing, asthma, or complete recovery, and analyzed their blood methylation patterns.
  • Findings revealed significant differences in methylation patterns in those who suffered from recurring respiratory problems compared to those who recovered, with certain hypomethylated genes potentially driving inflammation and asthma pathology.
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We conducted an age-based risk analysis of meningococcal disease in Spain to provide prospects on a rational vaccine schedule in pediatrics. We used the National Hospital Registry to estimate meningococcal hospitalization rate. Population census for each year was used as the denominator in computing the hospitalization rate.

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Investigating vaccine effectiveness (VE) in real-world conditions is crucial, especially its variation across different settings and populations. We undertook a test-negative control study in Galicia (Northwest Spain) to assess BNT162b2 effectiveness against acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection as well as COVID-19 associated hospitalization, intensive care unit (ICU) admission and mortality. A total of 44,401 positive and 817,025 negative SARS-CoV-2 test results belonging to adults were included.

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Coronavirus Disease-19 (COVID-19) symptoms range from mild to severe illness; the cause for this differential response to infection remains unknown. Unravelling the immune mechanisms acting at different levels of the colonization process might be key to understand these differences. We carried out a multi-tissue (nasal, buccal and blood; n = 156) gene expression analysis of immune-related genes from patients affected by different COVID-19 severities, and healthy controls through the nCounter technology.

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Superspreading and variants of concern (VOC) of the human pathogen severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are the main catalyzers of the coronavirus disease 2019 (COVID-19) pandemic. However, measuring their individual impact is challenging. By examining the largest database of SARS-CoV-2 genomes The Global Initiative on Sharing Avian Influenza Data [GISAID; n >1.

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