Publications by authors named "Marta Martin-Fernandez"

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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  • 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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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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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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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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  • * 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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Sepsis is among the most common causes of death in intensive care units. Septic shock is a type of circulatory shock that shows signs and symptoms that are similar to non-septic shock. Despite the impact of shock on patients and the economic burden, knowledge of the pathophysiology of septic shock is scarce.

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Introduction: COVID-19 transmission has been characterized by the presence of asymptomatic patients. Additionally, most studies evaluating costs focus on symptomatic COVID-19 cases.

Objective: To describe the prevalence, characteristics, and costs of asymptomatic COVID-19 cases at admission in Spanish hospitals in 2020.

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Objective: Driving under the influence of alcohol and/or drugs impairs skills essential for safe driving, increases the risk of being involved in a traffic accident and is particularly prevalent in Spain. The aim is to assess the prevalence of positive substance driving cases, what factors may be associated with driving after substance use, and the evolution of the progress in the prevalence of drug use among drivers in drivers based on the 2008, 2013, 2018, and 2021 studies.

Study Design And Setting: The present study was conducted in a representative sample of Spanish drivers in 2021 for alcohol (breath) and psychoactive substances [oral fluid (OF)].

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Objective: This study analyzed, at a postcode detailed level, the relation-ship between short-term exposure to environmental factors and hospital ad-missions, in-hospital mortality, ICU admission, and ICU mortality due to COVID-19 during the lockdown and post-lockdown 2020 period in Spain.

Methods: We performed a nationwide population-based retrospective study on 208,744 patients admitted to Spanish hospitals due to COVID-19 based on the Minimum Basic Data Set (MBDS) during the first two waves of the pandemic in 2020. Environmental data were obtained from Copernicus Atmosphere Monitoring Service.

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Down's syndrome (DS) presents with a constellation of cardiac, neurocognitive and growth impairments. Individuals with DS are also prone to severe infections and autoimmunity including thyroiditis, type 1 diabetes, coeliac disease and alopecia areata. Here, to investigate the mechanisms underlying autoimmune susceptibility, we mapped the soluble and cellular immune landscape of individuals with DS.

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Article Synopsis
  • Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiencies are prone to mycobacterial diseases (MSMD) due to low IFN-γ production, and may also experience chronic mucocutaneous candidiasis (CMC) from reduced IL-17A/F production.
  • The study identifies six patients with AR IL-23R deficiency, all showing MSMD symptoms, but CMC only in two, linked to specific genetic variants affecting IL-23's function.
  • IL-23 is essential for stimulating IFN-γ immunity in certain immune cells and plays a more limited role in IL-17A production, shedding light on why some patients have a higher incidence of
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Article Synopsis
  • * In a study of 805 cardiac surgery patients, 42 developed pneumonia, and 228 had renal dysfunction; procalcitonin levels were higher in infected patients regardless of kidney status.
  • * Adjusting the procalcitonin threshold based on renal function improved its accuracy for diagnosing infections in patients with or without renal issues.
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Recent works have demonstrated a significant reduction in cholesterol levels and increased oxidative stress in patients with coronavirus disease 2019 (COVID-19). The cause of this alteration is not well known. This study aimed to comprehensively evaluate their possible association during the evolution of COVID-19.

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