Publications by authors named "Martin-Fernandez M"

Article Synopsis
  • Inborn errors of immunity (IEIs) are genetic disorders that increase the risk of infections, autoimmunity, and other health issues, and often show incomplete penetrance despite being caused by single gene mutations.
  • This study examines how autosomal random monoallelic expression (aRMAE)—where only one allele of a gene is actively expressed—contributes to the variability in disease outcomes among individuals within families with IEIs.
  • The findings reveal that specific gene expression patterns related to aRMAE can influence clinical phenotypes, suggesting that understanding both genetic and expression variations is crucial for analyzing the impact of monogenic disorders.
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Objective: To analyse the characteristics of articles published on the competencies, abilities, knowledge and education that nurses should have to be able to communicate, inform, disseminate and/or be an informative source in mass media and social media.

Design: This bibliometric study involved a comprehensive search of two databases, PubMed and Scopus. The search terms included 'nursing', 'communication', and 'mass media', along with their synonyms.

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(1) Background: Intimate partner violence (IPV) remains a pervasive issue, particularly among adolescents. Its prevalence is still high despite intervention efforts, especially for younger generations. Empathy and sexism are factors linked with IPV that have shown gender differences.

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Article Synopsis
  • A significant number of patients with metabolic dysfunction-associated steatotic liver disease (MASLD) show indeterminate results from vibration-controlled transient elastography (VCTE), prompting the need for better diagnostic methods for significant fibrosis.
  • A large study, involving 1196 MASLD patients from various centers, developed an algorithm that used liver stiffness measurements (LSM) and controlled attenuation parameters (CAP) to accurately identify significant fibrosis.
  • The algorithm demonstrated high sensitivity and specificity in diagnosing significant fibrosis, potentially helping to identify treatment candidates for MASLD by re-allocating patients based on their risk levels.
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The degeneration of spiral ganglion neurons (SGNs), which convey auditory signals from hair cells to the brain, can be a primary cause of sensorineural hearing loss (SNHL) or can occur secondary to hair cell loss. Emerging therapies for SNHL include the replacement of damaged SGNs using stem cell-derived otic neuronal progenitors (ONPs). However, the availability of renewable, accessible, and patient-matched sources of human stem cells is a prerequisite for successful replacement of the auditory nerve.

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The interferon-stimulated gene OAS1 has well-defined antiviral properties. In two recent issues of Immunity, Harioudh et al. describe a non-canonical function of OAS1 that selectively protects the translation of proteins involved in defense against viral or bacterial infections.

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Acute kidney injury (AKI) is the most common complication of cardiac surgery. Cardiac surgery-associated AKI (CSA-AKI) is caused by systemic and renal hemodynamic impairment and parenchymal injury. Prophylaxis of CSA-AKI remains an unmet priority, for which preventive strategies based on drug therapies, hydration procedures, and remote ischemic preconditioning (RIPC) have been tested in pre-clinical and clinical studies, with variable success.

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Unlabelled: Type I interferons (IFN-I) are cytokines with potent antiviral and inflammatory capacities. IFN-I signaling drives the expression of hundreds of IFN-I stimulated genes (ISGs), whose aggregate function results in the control of viral infection. A few of these ISGs are tasked with negatively regulating the IFN-I response to prevent overt inflammation.

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Background: Extracellular vesicles (EVs), containing microRNAs (miRNAs) and other molecules, play a central role in intercellular communication, especially in viral infections caused by SARS-CoV-2. This study explores the miRNA profiles in plasma-derived EVs from patients with severe COVID-19 vs controls, identifying potential mortality predictors.

Methods: This prospective study included 36 patients with severe COVID-19 and 33 controls without COVID-19.

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Introduction: The present systematic review analyses the role of soluble fms-like tyrosine kinase-1 (sFLT-1) as an indirect biomarker of endothelial dysfunction in sepsis or septic shock from articles published in PubMed between 2010 and March 2022.

Materials And Methods: A systematic review of studies studying sFLT-1 monitoring in intensive care units in adults with sepsis or septic shock vs. controls for sepsis diagnosis and prognosis has been carried out (PROSPERO CRD42023412929 Registry).

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Dating violence (DV) is a social problem that affects adolescents worldwide. Prevalence figures show that this type of violence is starting at an increasingly younger age, which is why it is important to study attitudes toward DV, as they are an important risk factor. Victim-blaming attitudes justify this type of violence by excusing perpetrators and blaming victims.

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Background: COVID-19-associated pulmonary aspergillosis (CAPA) has emerged as a relatively common complication. Multiple studies described this relationship in critical patients, however its incidence and outcome in other risk groups such as immunosuppressed patients remains unknown. In this sense, we aimed to evaluate the rates and outcomes of CAPA in hematological patients and according to the different hematological malignances, comparing to invasive pulmonary aspergillosis (IPA) in non-COVID-19 ones.

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Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use forward and reverse genetics to identify 59 individuals harboring one of four heterozygous JAK1 variants.

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Introduction: Prevalence and mortality of the acute respiratory distress syndrome (ARDS) in intensive care units (ICU) are unacceptably high. There is scarce literature on post-operative sepsis-induced ARDS despite that sepsis and major surgery are conditions associated with ARDS. We aimed to examine the impact of post-operative sepsis-induced ARDS on 60-day mortality.

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The Epidermal Growth Factor Receptor (EGFR) is frequently found to be mutated in non-small cell lung cancer. Oncogenic EGFR has been successfully targeted by tyrosine kinase inhibitors, but acquired drug resistance eventually overcomes the efficacy of these treatments. Attempts to surmount this therapeutic challenge are hindered by a poor understanding of how and why cancer mutations specifically amplify ligand-independent EGFR auto-phosphorylation signals to enhance cell survival and how this amplification is related to ligand-dependent cell proliferation.

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Cardiac CINE, a form of dynamic cardiac MRI, is indispensable in the diagnosis and treatment of heart conditions, offering detailed visualization essential for the early detection of cardiac diseases. As the demand for higher-resolution images increases, so does the volume of data requiring processing, presenting significant computational challenges that can impede the efficiency of diagnostic imaging. Our research presents an approach that takes advantage of the computational power of multiple Graphics Processing Units (GPUs) to address these challenges.

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Article Synopsis
  • The study discusses a rare lung disease in nine children linked to a genetic deficiency of the CCR2 receptor, leading to conditions like pulmonary alveolar proteinosis (PAP) and increased vulnerability to infections.
  • This deficiency is characterized by loss-of-function variants, affecting the migration and signaling of immune cells, particularly monocytes, due to a lack of response to CCL-2, a chemokine essential for these processes.
  • Elevated levels of CCL-2 in the blood serve as a diagnostic marker for identifying children with unexplained respiratory issues or recurrent infections, indicating the importance of CCR2 in lung health and immune response.
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The nanoparticle (NP) redox state is an important parameter in the performance of cobalt-based Fischer-Tropsch synthesis (FTS) catalysts. Here, the compositional evolution of individual CoNPs (6-24 nm) in terms of the oxide vs metallic state was investigated in situ during CO/syngas treatment using spatially resolved X-ray absorption spectroscopy (XAS)/X-ray photoemission electron microscopy (X-PEEM). It was observed that in the presence of CO, smaller CoNPs (i.

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Cardiac Magnetic Resonance (CMR) Imaging is currently considered the gold standard imaging modality in cardiology. However, it is accompanied by a tradeoff between spatial resolution and acquisition time. Providing accurate measures of thin walls relative to the image resolution may prove challenging.

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Sepsis is the most common cause of death from infection in the world. Unfortunately, there is no specific treatment for patients with sepsis, and management relies on infection control and support of organ function. A better understanding of the underlying pathophysiology of this syndrome will help to develop innovative therapies.

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Behavioral adaptation to potential threats requires both a global representation of danger to prepare the organism to react in a timely manner but also the identification of specific threatening situations to select the appropriate behavioral responses. The prefrontal cortex is known to control threat-related behaviors, yet it is unknown whether it encodes global defensive states and/or the identity of specific threatening encounters. Using a new behavioral paradigm that exposes mice to different threatening situations, we show that the dorsomedial prefrontal cortex (dmPFC) encodes a general representation of danger while simultaneously encoding a specific neuronal representation of each threat.

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Article Synopsis
  • * This deficiency results in the impaired translation of important proteins like JAK2, affecting cellular responses to specific cytokines such as IL-23 and IL-12, particularly in T lymphocytes and phagocytes.
  • * The impaired response to IL-23 reduces the production of IFN-γ by certain immune cells during mycobacterial infections, highlighting a crucial link between MCTS1 deficiency and mycobacterial disease susceptibility.
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