Synergic Integration of the miRNome, Machine Learning and Bioinformatics for the Identification of Potential Disease-Modifying Agents in Obstructive Sleep Apnea.

Introduction: Understanding the diverse pathogenetic pathways in obstructive sleep apnea (OSA) is crucial for improving outcomes. microRNA (miRNA) profiling is a promising strategy for elucidating these mechanisms.

Objective: To characterize the pathogenetic pathways linked to OSA through the integration of miRNA profiles, machine learning (ML) and bioinformatics.

Quantitative multi-energy CT in oncology: State of the art and future directions.

Multi-energy computed tomography (CT) involves acquisition of two or more CT measurements with distinct energy spectra. Using the differential attenuation of tissues and materials at different X-ray energies, multi-energy CT allows distinction of tissues and materials. Multi-energy technology encompasses different types of CT systems, such as dual-energy CT and photon-counting CT, that can use information from the energy and type of material present in acquired images to create multiple datasets.

Optimising 3D printed medications for rare diseases: In-line mass uniformity testing in direct powder extrusion 3D printing.

Biotinidase deficiency is a rare inherited disorder characterized by biotin metabolism issues, leading to neurological and cutaneous symptoms that can be alleviated through biotin administration. Three-dimensional (3D) printing (3DP) offers potential for personalized medicine production for rare diseases, due to its flexibility in designing dosage forms and controlling release profiles. For such point-of-care applications, rigorous quality control (QC) measures are essential to ensure precise dosing, optimal performance, and product safety, especially for low personalized doses in preclinical and clinical studies.

Bone marrow magnetic resonance imaging (MRI): morphological and functional features from reconversion to infiltration.

Bone marrow is a dynamic organ with variable composition in relation to age or pathophysiological changes. Magnetic resonance imaging (MRI) is the technique of choice to assess the different components of the bone marrow based on the different information provided by the different characteristics of the MRI sequences. This article provides an overview of the MRI appearances of normal and abnormal bone marrow.

Treatment adherence to oral chemotherapy in patients with locally advanced or metastatic non- small cell lung cancer: Protocol for a hospital pharmacy-based real-world study.

Objective: This article describes a study protocol for evaluating adherence to oral chemotherapy (OCT) in patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) in Spain.

Methods: This multicenter, observational, prospective study will be conducted by six hospital pharmacists from six Spanish hospitals. The study will include men and women aged 18 years or older with a diagnosis of locally advanced or metastatic NSCLC who are being treated or have been prescribed OCT.

Oleoylethanolamide mitigates cardiometabolic disruption secondary to obesity induced by high-fat diet in mice.

Chronic lipid overnutrition has been demonstrated to promote cardiac dysfunction resulting from metabolic derangement, inflammation, and fibrosis. Oleoylethanolamide (OEA), an endogenous peroxisome proliferator activating receptor (PPAR)-α agonist, has been extensively studied for its metabolic properties. The aim of this study was to determine if OEA has beneficial effects on high-fat diet (HFD)-induced cardiac disruption in obese mice, focusing on the underlying pathological mechanisms.

Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey.

Arginase 1 deficiency (ARG1-D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability. The aim of this study was to assess disease burden in ARG1-D by performing a cross-sectional survey of patients with ARG1-D and their caregivers in four European countries (France, Portugal, Spain, and the United Kingdom). Patients were enrolled at participating clinics and data were collected using a web-based questionnaire.

Memprot.GPCR-ModSim: modelling and simulation of membrane proteins in a nutshell.

Summary: Memprot.GPCR-ModSim leverages our previous web-based protocol, which was limited to class-A G protein-coupled receptors, to become the first one-stop web server for the modelling and simulation of any membrane protein system. Motivated by the exponential growth of experimental structures and the breakthrough of deep-learning-based structural modelling, the server accepts as input either a membrane-protein sequence, in which case it reports the associated AlphaFold model, or a 3D (experimental, modelled) structure, including quaternary complexes with associated proteins and/or ligands of any kind.

Prevalence and relevance of H558R in the efficacy and toxicity of flecainide in patients with atrial fibrillation: a cohort study.

Background: The SCN5A gene polymorphism histidine-558-to-arginine (H558R) has been associated with atrial fibrillation (AF) and may affect the therapeutic effects of flecainide. This study aimed to assess the prevalence of the H558R polymorphism in a European cohort of patients with AF and examine its association with flecainide's effects on AF recurrence and toxicity.

Methods: This cohort study included patients diagnosed with AF and prescribed flecainide between 2017 and 2021 in a regional health area.

Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice.

Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal congenital metabolic lysosomal disease caused by a deficiency of the -acetyl-galactosamine-6-sulfate sulfatase (GALNS) gene, leading to severe skeletal dysplasia. The available therapeutics for patients with MPS IVA, enzyme replacement therapy and hematopoietic stem cell transplantation, revealed limitations in the impact of skeletal lesions. Our previous study, a significant leap forward in MPS IVA research, showed that liver-targeted adeno-associated virus (AAV) gene transfer of human GALNS (hGALNS) restored GALNS enzymatic activity in blood and multiple tissues and partially improved the aberrant accumulation of storage materials.

Defining mucosal healing in randomized controlled trials of inflammatory bowel disease: A systematic review and future perspective.

Background: Mucosal healing (MH) is an established treatment goal in inflammatory bowel disease (IBD). However, various definitions of MH exist. We aimed to identify how MH is defined in randomized controlled trials (RCTs) in ulcerative colitis (UC) and Crohn's disease (CD).

Certification system for multidisciplinary thoracic tumour boards.

In Spain, lung cancer (LC) is the fourth most common cancer. Managing LC involves different professionals, and cooperative and coordinated work is crucial. Therefore, important decisions are better made by Multidisciplinary Thoracic Tumour Boards (MTTBs).

Clinical overview of the physiology and pathophysiology of pleural fluid movement: a narrative review.

In physiological conditions, the pleural space couples the lung with the chest wall and contains a small amount of fluid in continuous turnover. The volume of pleural fluid is the result from the balance between the entry of fluid through the pleural capillaries and drainage by the lymphatics in the most dependent areas of the parietal pleura. Fluid filtration is governed by Starling forces, determined by the hydrostatic and oncotic pressures of the capillaries and the pleural space.

Spanish catheter ablation registry. 23rd official report of the Heart Rhythm Association of the Spanish Society of Cardiology (2023).

Introduction And Objectives: We report the results of the 2023 Spanish catheter ablation registry.

Methods: Procedural data were collected and incorporated into the REDCap platform by all participating centers through a specific form.

Results: There were 104 participating centers in 2023 compared with 103 in 2022.

Societal costs and quality of life associated with arginase 1 deficiency in a European setting - a multinational, cross-sectional survey.

Background And Aims: Arginase 1 deficiency (ARG1-D) is a ultrarare disease with manifestations that cause mobility and cognitive impairment that progress over time and may lead to early mortality. Diseases such as ARG1-D have a major impact also outside of the health care sector and the aim of this study was to estimate the current burden of disease associated with ARG1-D from a societal perspective.

Methods: The study was performed as a web-based survey of patients with ARG1-D and their caregivers in four European countries (France, Portugal, Spain, United Kingdom).

Integration and validation of host transcript signatures, including a novel 3-transcript tuberculosis signature, to enable one-step multiclass diagnosis of childhood febrile disease.

Background: Whole blood host transcript signatures show great potential for diagnosis of infectious and inflammatory illness, with most published signatures performing binary classification tasks. Barriers to clinical implementation include validation studies, and development of strategies that enable simultaneous, multiclass diagnosis of febrile illness based on gene expression.

Methods: We validated five distinct diagnostic signatures for paediatric infectious diseases in parallel using a single NanoString nCounter® experiment.

Interferon gene expression declines over time post-COVID infection and in long COVID patients.

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.