Publications by authors named "Cebey-Lopez M"

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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  • 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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Background: Pediatric osteoarticular infections (POAIs) are serious diseases requiring early diagnosis and treatment.

Methods: In this prospective multicenter cohort study, children with POAIs were selected from the European Union Childhood Life-threatening Infectious Diseases Study (EUCLIDS) database to analyze their demographic, clinical, and microbiological data.

Results: A cohort of 380 patients with POAIs, 203 with osteomyelitis (OM), 158 with septic arthritis (SA), and 19 with both OM and SA, was analyzed.

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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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Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the gene. gene alterations are difficult matter to address, as alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes.

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The fight against the spread of antibiotic resistance is one of the most important challenges facing health systems worldwide. Given the limitations of current diagnostic methods, the development of fast and accurate tests for the diagnosis of viral and bacterial infections would improve patient management and treatment, as well as contribute to reducing antibiotic misuse in clinical settings. In this scenario, analysis of host transcriptomics constitutes a promising target to develop new diagnostic tests based on the host-specific response to infections.

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  • Rotavirus (RV) is a major cause of severe illness and death in children worldwide, but the immune response from RV vaccination is not fully understood.* -
  • A study compared gene expression in children with natural RV infections and those who received the RotaTeq vaccine, finding that vaccination produces similar gene changes as natural infection, affecting aspects like the immune response and gastrointestinal symptoms.* -
  • Key findings include the identification of a nine-transcript signature that can differentiate vaccinated children from those who are naturally infected, as well as the discovery of a specific microRNA that may help protect against viral infections, paving the way for better antiviral strategies and vaccines.*
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Background: Emerging evidence indicates a potential role for monocytes in COVID-19 immunopathology. We investigated two soluble markers of monocyte activation, sCD14 and sCD163, in COVID-19 patients, with the aim of characterizing their potential role in monocyte-macrophage disease immunopathology. To the best of our knowledge, this is the first study of its kind.

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  • There is an increasing focus on understanding how gene expression affects viral infections and their progression.
  • Recent research shows that long non-coding RNAs (lncRNAs) play a crucial role in regulating the immune response by affecting gene expression in various ways.
  • Two specific lncRNAs, which are notably downregulated during viral infections, have been identified as potential biomarkers for diagnosing these infections in patients compared to healthy controls.
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Respiratory syncytial virus (RSV) is one of the major causes of acute lower respiratory tract infection worldwide. The absence of a commercial vaccine and the limited success of current therapeutic strategies against RSV make further research necessary. We used a multi-cohort analysis approach to investigate host transcriptomic biomarkers and shed further light on the molecular mechanism underlying RSV-host interactions.

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  • Diabetes significantly increases the risk of developing community-acquired pneumonia (CAP), making it essential to manage diabetes to prevent related complications.
  • A study analyzed the characteristics of patients with and without diabetes who experienced CAP in primary care in Spain between 2009 and 2013, revealing that those with diabetes had more health issues and were typically older.
  • It highlights the need for interventions, such as vaccinations, to reduce recurrence and hospitalization risks in diabetic patients, emphasizing the importance of healthcare professionals being aware of these additional risks.
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Background: The limited availability of microbiology services in sub-Saharan Africa impedes accurate diagnosis of bacterial pathogens and understanding of trends in prevalence and antibiotic sensitivities. We aimed to characterize bacteremia among hospitalized children in The Gambia and to identify factors associated with bacteremia and mortality.

Methods: We prospectively studied children presenting with suspected severe infection to 2 urban hospitals in The Gambia, between January 2013 and September 2015.

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The diagnosis of bacterial infections in hospital settings is currently performed using bacterial culture from sterile site, but they are lengthy and limited. Transcriptomic biomarkers are becoming promising tools for diagnosis with potential applicability in clinical settings. We evaluated a RT-qPCR assay for a 2-transcript host expression signature (FAM89A and IFI44L genes) inferred from microarray data that allow to differentiate between viral and bacterial infection in febrile children.

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Introduction: Information about community-acquired pneumonia (CAP) risk in primary care is limited. We assess different lifestyle and comorbid conditions as risk factors (RF) for CAP in adults in primary care.

Methods: A retrospective-observational-controlled study was designed.

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There is a growing interest in the possible relationship between rotavirus (RV) vaccine and hospitalizations due to childhood seizures. We explored variation in hospitalization rates after 9 years of vaccination against pre-vaccination period for children <5 years of age from Galicia (Northwest Spain) before and after the introduction of the RV vaccines. Hospitalization rates for childhood seizures in Galician children were compared before and after RV vaccine introduction (in 2007) using different statistical approaches, including time series analyses.

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  • The EUCLIDS study investigated the impact of severe bacterial infections, like sepsis, among children in six European countries, analyzing data from 2,844 patients aged 1 month to 18 years over a three-year period.
  • Findings revealed that around 43% of these children had sepsis, with pneumonia and central nervous system infections being the most common syndromes, while various bacteria such as Neisseria meningitidis and Staphylococcus aureus were frequently identified.
  • The research highlighted that 37.6% of patients required intensive care, and among those with available outcome data, 2.2% experienced mortality, indicating a significant health burden from these infections.
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Background: Sepsis is one of the main reasons for non-elective admission to pediatric intensive care units (PICUs), but little is known about determinants influencing outcome. We characterized children admitted with community-acquired sepsis to European PICUs and studied risk factors for mortality and disability.

Methods: Data were collected within the collaborative Seventh Framework Programme (FP7)-funded EUCLIDS study, which is a prospective multicenter cohort study aiming to evaluate genetic determinants of susceptibility and/or severity in sepsis.

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  • Pneumonia is a leading infectious disease killer, causing about 25% of cases globally and a significant number of childhood deaths.
  • A whole exome sequencing study in eight complicated pneumococcal pneumonia patients identified two key single nucleotide polymorphisms (SNPs) linked to the disease, suggesting a genetic basis for susceptibility.
  • The study also highlighted four genes with increased pathogenic variations and suggested that certain genes related to immune response and mucin production may play roles in pneumonia and related respiratory diseases.
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  • Respiratory syncytial virus (RSV) is a significant cause of severe respiratory illness in infants, and the host's genome plays a key role in susceptibility to the disease.
  • A study sequenced the genes of 54 hospitalized RSV patients and compared them to control groups to identify genetic variants linked to susceptibility, highlighting SNP rs199665292 in the OR gene as a strong candidate.
  • The research also suggests that genetic variants in HLA genes and mucin genes are associated with RSV infection, particularly emphasizing the potential role of olfactory and taste receptors in viral diseases.
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  • Clinical differentiation between bacterial and viral infections in children is challenging, leading to both unnecessary antibiotic use and missed bacterial infections.
  • The study aimed to identify a specific blood RNA expression signature to accurately distinguish between bacterial and viral infections in febrile children across several countries from 2009 to 2013.
  • The RNA signature was tested on children with confirmed bacterial and viral infections, showing promising results in distinguishing these infections, potentially improving diagnosis and treatment decisions.
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The mechanisms of rotavirus (RV) infection have been analyzed from different angles but the way in which RV modifies the transcriptome of the host is still unknown. Whole transcriptome shotgun sequencing of peripheral blood samples was used to reveal patterns of expression from the genome of RV-infected patients. RV provokes global changes in the transcriptome of infected cells, involving an over-expression of genes involved in cell cycle and chromatin condensation.

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Background And Aims: A properly validated scoring system allowing objective categorization of infants with acute respiratory infections (ARIs), avoiding the need for in-person assessment and that could also be used by non-health professionals is currently not available. We aimed to develop a new clinical assessment scale meeting these specifications.

Methods: We designed a clinical scale (ReSVinet scale) based on seven parameters (feeding intolerance, medical intervention, respiratory difficulty, respiratory frequency, apnoea, general condition, fever) that were assigned different values (from 0 to 3) for a total of 20 points.

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