Objective: The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Method: A retrospective review of 4219 consecutive prenatal microarrays performed within the network from 2018 to 2023 was conducted, including all referral reasons. To develop consensus recommendations, several discussion meetings were held along with an extensive review of the existing literature.
Purpose: Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma that develops sporadically or in Neurofibromatosis type 1 patients. Its development is marked by the inactivation of specific tumor suppressor genes (TSGs): NF1, CDKN2A and SUZ12EED (Polycomb Repressor Complex 2). Each TSG loss can be targeted by particular drug inhibitors and we aimed to systematically combine these inhibitors, guided by TSG inactivation status, to test their precision medicine potential for MPNSTs.
View Article and Find Full Text PDFIntroduction: In today's fast-paced world, depression and anxiety are the most prevalent health problems, generating high economic and social burdens. Interpretation biases seem to play a pivotal role in this emotional problems, influencing how individuals interpret emotionally ambiguous information. These interpretation biases can emerge due to the activation of latent schemas related to how individuals perceive themselves.
View Article and Find Full Text PDFIntroduction: Evidence on the association of biomarkers of host response to infection with COVID-19 clinical outcomes has focused mainly on hospitalized patients. We investigated the prognostic performance of 39 immune and endothelial activation markers measured early in the course of disease to predict the development of severe COVID-19 and hospitalization.
Methods: We conducted a nested case-control study from a randomized clinical trial evaluating the efficacy of COVID-19 convalescent plasma in outpatients aged 50 years or older presenting with mild-to-moderate COVID-19.
Background: Exercise pulmonary hypertension (PH) was defined by a mean pulmonary arterial pressure (mPAP)/cardiac output (CO) slope >3 mmHg·min·L between rest and exercise in the 2022 European Society of Cardiology/European Respiratory Society PH guidelines. However, large, multicentre studies on the prognostic relevance of exercise haemodynamics and its added value to resting haemodynamics are missing.
Patients And Methods: The PEX-NET (Pulmonary Haemodynamics during Exercise Network) registry enrolled patients who underwent clinically indicated right heart catheterisations both at rest and ergometer exercise from 23 PH centres worldwide.
Introduction: The objective of this study was to assess the implementation of safe medication practices in hospital emergency services, in order to understand the points of greatest risk as well as the safety challenges faced by these departments, and to plan collaboratively improvement initiatives.
Method: Multicentric and descriptive study based on completion of the "Medication safety self-assessment of emergency services" from May 16, 2023 to November 16, 2023, at voluntarily participating emergency services. The survey contained 93 items grouped into 10 key elements.
Background: Digital applications, such as in smartphone apps format, have shown high suggestive evidence for their efficacy in reducing general distress, but rigorous studies of their efficacy in symptom change and the mechanisms involved are still needed.
Methods: In the current multi-arm parallel-group randomized trial, participants aged 18-65 with smartphone access were recruited through social media. They were randomly assigned to two app interventions (PsyPills and OCAT) or an active placebo group (shamOCAT).
Ferric carboxymaltose (FCM) allows for rapid and total correction of iron deficiency with a lower risk of hypersensitivity reactions compared to other IV iron preparations. However, FCM is associated with potentially serious adverse events, including hypophosphatemia, following the infusion. The mechanism behind FCM-induced hypophosphatemia is not well understood, but pre-existing risk factors can increase the likelihood of severe and persistent hypophosphatemia.
View Article and Find Full Text PDFBackground And Objective: Patients with pulmonary hypertension (PH) may present with hypoxaemia at rest or during daily activities. There is no epidemiological data on the prescription of long-term oxygen therapy (LTOT) in patients with PH. The study sought to analyse the prevalence and incidence of LTOT prescription among patients with pulmonary arterial hypertension (PAH) or chronic thromboembolic pulmonary hypertension (CTEPH) in Spain and to determine predictors for this prescription.
View Article and Find Full Text PDFIntroduction: This study examines the effects of a Mindfulness-Based Stress Reduction (MBSR) program on psychological measures and attentional patterns to pain stimuli, using eye-tracking methods, in individuals with chronic pain.
Method: Thirty-two participants with chronic pain and no prior mindfulness experience were randomly assigned to an experimental group or a waiting list group. Both groups completed self-report measures of symptoms, well-being, and an attentional disengagement task using emotional faces as stimuli.
Curr Opin Pulm Med
September 2024
Purpose Of Review: To provide timely and relevant insights into the complex relationship between pulmonary vascular disease (PVD) and chronic lung disease (CLD), focusing on the causative and consequential dynamics between these conditions.
Recent Findings: There are shared pathogenic mechanisms between pulmonary arterial hypertension (PAH) and group 3 pulmonary hypertension, including altered expression of mediators and growth factors implicated in both conditions. Factors such as hypoxia, hypoxemia, and hypercapnia also contribute to pulmonary vascular remodelling and endothelial dysfunction.
Background: Current research is moving from studying cognitive biases and maladaptive emotion regulation (ER) as relatively stable phenomena contributing to affective disturbances, adopting ecological methodologies, such as Experience Sampling Methods (ESM). However, there is still limited ESM evidence on the interactions between stress and ER strategies' use, and negative interpretation biases, regarding their relations with momentary affective states. In this study, we used a new ESM design to disentangle the contextual, regulatory and cognitive processes implicated in daily affective experiences.
View Article and Find Full Text PDFPositive reappraisal strategies have been found to reduce negative affect following the recall of negative personal events. This study examined the restorative effect of two mood-repair instructions (self-compassion vs benefit-focused reappraisal) and a control condition with no instructions following a negative Mood Induction Procedure by using the guided recall of a negative autobiographical event. A total of 112 university students participated in the online study (81% women, Mage: 21.
View Article and Find Full Text PDFIntroduction: The prevalence of alpha-1 antitrypsin deficiency (AATD) in Macaronesia (i.e., Azores, Madeira, Canary Islands, and Cape Verde archipelagos) is poorly known.
View Article and Find Full Text PDFEnforcing strict protocols that prevent transmission of airborne infections in prisons is challenging. We examine a large severe acute respiratory syndrome coronavirus 2 outbreak in a Catalan penitentiary center in February-April 2021, prior to vaccination deployment. The aim was to describe the evolution of the outbreak using classical and genomic epidemiology and the containment strategy applied.
View Article and Find Full Text PDFThe mammalian hippocampus exhibits spontaneous sharp wave events (1-30 Hz) with an often-present superimposed fast ripple oscillation (120-220 Hz) to form a sharp wave ripple (SWR) complex. During slow-wave sleep or quiet restfulness, SWRs result from the sequential spiking of hippocampal cell assemblies initially activated during learned or imagined experiences. Additional cortical/subcortical areas exhibit SWR events that are coupled to hippocampal SWRs, and studies in mammals suggest that coupling may be critical for the consolidation and recall of specific memories.
View Article and Find Full Text PDFBackground: At the beginning of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, transfusion of coronavirus disease 2019 (COVID-19) convalescent plasma (CCP) emerged as a potential therapeutic strategy to help patients severely afflicted by COVID-19. The efficacy of CCP has been controversial as it depends on many variables pertaining to the plasma donor and the patient with COVID-19, for example, time of convalescence or symptoms onset. This feasibility and descriptive study aimed to assess the safety of multiple doses of CCP in mechanically ventilated, intubated patients with respiratory failure due to COVID-19.
View Article and Find Full Text PDFBalloon pulmonary angioplasty (BPA) has recently been elevated as a class I recommendation for the treatment of inoperable or residual chronic thromboembolic pulmonary hypertension (CTEPH). Proper patient selection, procedural safety, and post-procedural evaluation are crucial in the management of these patients, with imaging work-up playing a pivotal role. Understanding the diagnostic and therapeutic imaging algorithms of CTEPH, the imaging features of patients amenable to BPA, all imaging findings observed during and immediately after the procedure and the changes observed during the follow-up is crucial for all interventional radiologists involved in the care of patients with CTEPH.
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