Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa.

Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.

Mechanical Circulatory Support With Impella in High-Risk Patients With Chronic Total Occlusion and Complex Multivessel Disease.

Background: The therapeutic management of patients with multivessel disease and severe left ventricular dysfunction is complex and controversial.

Aims: The aim of this study was to analyze the clinical outcomes and the changes in left ventricular ejection fraction (LVEF) in patients with severe left ventricular dysfunction and at least one chronic total occlusion (CTO) undergoing percutaneous coronary intervention (PCI) with hemodynamic support provided by Impella.

Methods: Retrospective, multicenter study enrolling patients with severe left ventricular dysfunction and severe coronary artery disease with at least one CTO who required percutaneous mechanical circulatory support with Impella, from January 2019 to December 2023.

The European Drug-Drug Interaction (EuroDDI) Study Protocol: A Cross-Country Comparison of Drug-Drug Interaction Prevalence in the Older Community-Dwelling Population.

Background: Drug-drug interactions (DDIs), highly prevalent amongst the elderly, can lead to avoidable medication-related harm. Cardiovascular and central nervous system (CNS) drugs are commonly implicated. To date, there is no consensus on how to measure DDIs, making comparisons across countries challenging.

Anti-PD-1 and anti-PD-L1 antibodies for glioma.

Background: Glioblastoma multiforme (GBM) is the most common and aggressive adult glioma (16-month median survival). Its immunosuppressive microenvironment limits the efficacy of immune checkpoint inhibitors (ICIs).

Objectives: To assess the effects of the ICIs antibodies anti-programmed cell death 1 (anti-PD-1) and anti-programmed cell death ligand 1 (anti-PD-L1) in treating adults with diffuse glioma.

Patient experience with eosinophilic esophagitis symptoms and impacts on daily life based on in-trial qualitative interviews.

Purpose: Eosinophilic esophagitis (EoE), a chronic immune-mediated progressive disease, causes dysphagia, food impaction, abdominal pain, vomiting, and heartburn. EoE requires long-term monitoring and can affect quality of life owing to its symptoms and associated emotional and social burden. This study aimed to understand patients' experiences with EoE.

Unveiling the unusual i-motif-derived architecture of a DNA aptamer exhibiting high affinity for influenza A virus.

Non-canonical nucleic acid structures play significant roles in cellular processes through selective interactions with proteins. While both natural and artificial G-quadruplexes have been extensively studied, the functions of i-motifs remain less understood. This study investigates the artificial aptamer BV42, which binds strongly to influenza A virus hemagglutinin and unexpectedly retains its i-motif structure even at neutral pH.

Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.

The most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription factor 1) gene that was further assessed by the EMSA assay and molecular dynamic simulations. We additionally screened for DMRT1 mutations in 1940 infertile men diagnosed with spermatogenic failure, 644 normozoospermic controls, and 105 females with primary ovarian insufficiency (POI) recruited to the GEnetics of Male INfertility Initiative (GEMINI) or Estonian Andrology (ESTAND) cohorts.

A data-driven model of disability progression in progressive multiple sclerosis.

This study applies the Gaussian process progression model, a Bayesian data-driven disease progression model, to analyse the evolution of primary progressive multiple sclerosis. Utilizing data from 1521 primary progressive multiple sclerosis participants collected within the International Progressive Multiple Sclerosis Alliance Project, the analysis includes 18 581 longitudinal time-points (average follow-up time: 28.2 months) of disability assessments including the expanded disability status scale, symbol digit modalities, timed 25-foot-walk, 9-hole-peg test and of MRI metrics such as T1 and T2 lesion volume and normalized brain volume.

Disparate molecular mechanisms in cardiac ryanodine receptor channelopathies.

Aims: Mutations in the cardiac ryanodine receptor (RyR2) are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). This study investigates the underlying molecular mechanisms for CPVT mutations within the RyR2 N-terminus domain (NTD).

Methods And Results: We consulted the high-resolution RyR2 structure in both open and closed configuration to identify mutations G357S/R407I and A77T, which lie within the NTD intra- and inter-subunit interface with the Core Solenoid (CSol), respectively.

Longitudinal association between nailfold capillaroscopy and incident interstitial lung disease: A EUSTAR database analysis.

Objectives: To evaluate (1) the association between nailfold capillaroscopy pattern and 5-year risk for incident interstitial lung disease and (2) the association between transition in nailfold capillaroscopy pattern and risk of incident interstitial lung disease.

Methods: Data of adult patients from the EUSTAR database fulfilling the ACR-EULAR criteria with a disease duration ⩽5 years, having a scleroderma pattern at nailfold capillaroscopy with high-resolution computed tomography confirmed absence of interstitial lung disease (i.e.

Bilateral hypothalamotomy plus dominant amygdalotomy with Gamma Knife radiosurgery. A non-invasive alternative when everything has failed in the management of aggressive behavior disorder.

Background: Impulsive aggression is the core symptom of intermittent explosive disorder, which can be a feature of several psychiatric disorders. There is a subset of individuals who do not respond adequately to medical treatment; they are treatment refractory. The objective of this report is to describe a case of a patient with a background of schizophrenia and concomitant refractory aggressiveness disorder, treated with two-stage bilateral hypothalamotomy and unilateral amygdalotomy with Gamma Knife radiosurgery (GKR).

Extending beyond traditional forage: potential nutritional benefits of native plants in extreme arid insular regions.

The scarcity, unstable nutritional quality and environmental cost of imported forages in arid insular regions like Fuerteventura in the Canary Islands (Spain) need exploring sustainable local alternatives. This study evaluated the nutritional quality of twelve native and endemic plant species categorized into legumes, grasses, and a mixed group, cultivated under controlled conditions. The bromatological profiles, focusing on fiber, protein, lipids, and minerals, showed significant differences among plants in key parameters of forage quality: neutral detergent fiber (NDF; 24.

A systematic realist synthesis of digital interventions for enhancing mental health at work: contexts, mechanisms, and outcomes.

Background: Digital interventions (DIs) have emerged as promising tools for promoting mental health in the workplace. However, evidence on if, how, and under what circumstances they affect positive outcomes requires elucidation. This systematic realist review aimed to synthesize current knowledge on contexts, mechanisms, and outcomes of workplace DIs to enhance mental health at work.

Hybrid natural language processing tool for semantic annotation of medical texts in Spanish.

Background: Natural language processing (NLP) enables the extraction of information embedded within unstructured texts, such as clinical case reports and trial eligibility criteria. By identifying relevant medical concepts, NLP facilitates the generation of structured and actionable data, supporting complex tasks like cohort identification and the analysis of clinical records. To accomplish those tasks, we introduce a deep learning-based and lexicon-based named entity recognition (NER) tool for texts in Spanish.

Profiling the epigenome using long-read sequencing.

The advent of single-molecule, long-read sequencing (LRS) technologies by Oxford Nanopore Technologies and Pacific Biosciences has revolutionized genomics, transcriptomics and, more recently, epigenomics research. These technologies offer distinct advantages, including the direct detection of methylated DNA and simultaneous assessment of DNA sequences spanning multiple kilobases along with their modifications at the single-molecule level. This has enabled the development of new assays for analyzing chromatin states and made it possible to integrate data for DNA methylation, chromatin accessibility, transcription factor binding and histone modifications, thereby facilitating comprehensive epigenomic profiling.

Control optimization of air traffic emissions in a two-variable dynamic model.

Since 1999, every report released by the International Panel on Climate Change has advocated a decrease in the greenhouse gas emissions associated with aviation in order to preserve the current climate. This study used a two variable differential equations model with a non-linear control term to address several aspects of the emissions stabilization issue. By optimizing the control term parameter, several management alternatives can be obtained based on the properties of the phase plane of the model solutions, as identified by a stability analysis.

Experimental data on aerosols exhaled into the environment from different wind musical instruments.

Brass bands that include wind instruments are heavily affected by rules established during the pandemic. The aim of this experimental work was to assess the aerosols emitted through different wind instruments. The Aerodynamic Particle Sizer (APS) was used to measure the aerosols emitted and transmit those characteristics to a database.

Pan-inhibition of super-enhancer-driven oncogenic transcription by next-generation synthetic ecteinascidins yields potent anti-cancer activity.

The plasticity of cancer cells facilitates their ability to adopt heterogeneous differentiation states, posing a significant challenge to therapeutic interventions. Specific gene expression programs, driven in part by super-enhancers (SEs), underlie cancer cell states. Here we successfully inhibit SE-driven transcription in phenotypically distinct metastatic melanoma cells using next-generation synthetic ecteinascidins.

High-Throughput Effect-Directed Analysis of Androgenic Compounds in Hospital Wastewater: Identifying Effect Drivers through Non-Target Screening Supported by Toxicity Prediction.

The increasing number of contaminants released into the environment necessitates innovative strategies for their detection and identification, particularly in complex environmental matrices like hospital wastewater. Hospital effluents contain both natural and synthetic hormones that might significantly contribute to endocrine disruption in aquatic ecosystems. In this study, HT-EDA has been implemented to identify the main effect-drivers (testosterone, androsterone and norgestrel) from hospital effluent using microplate fractionation, the AR-CALUX bioassay and an efficient data processing workflow.

Morbid Obesity and Liver Transplant.

Background: The progressive increase in the prevalence of morbid obesity (MO) in the general population is a pressing issue. This rise in MO has also been observed in patients with liver disease who are candidates for liver transplantation (LT).

Methods: A retrospective study of a single-center series was conducted to analyze the impact of MO on morbidity, mortality, and patient survival after LT.

Tailored recovery of antioxidant fractions enriched in caffeine and phenolic compounds from coffee pulp using ethanol-modified supercritical carbon dioxide.

Coffee pulp (CP) is the by-product of coffee processing that urgently needs to be revalorized using sustainable technologies. This work applied a design of experiment (DoE) for modeling the extraction of bioactive compounds from CP using supercritical carbon dioxide (sc-CO) with ethanol as a co-solvent under variable conditions (temperature, pressure, and ethanol percentage). Considering extraction efficiency (per unit of CP) and extraction selectivity (per unit of extract), results showed that ethanol percentage significantly enhanced the efficiency of total phenolic content, as well as the selectivity of chlorogenic acid and protocatechuic acid (p < 0.

Combining antibacterial and wound healing features: Xanthan gum/guar gum 3D-printed scaffold tuned with hydroxypropyl-β-cyclodextrin/thymol and Zn.

Biofilm formation on biological and material surfaces represents a heavy health and economic burden for both patient and society. To contrast this phenomenon, medical devices combining antibacterial and pro-wound healing abilities are a promising strategy. In the present work, Xanthan gum/Guar gum (XG/GG)-based scaffolds were tuned with thymol and Zn to obtain wound dressings that combine antibacterial and antibiofilm properties and favour the healing process.