Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

Pathogenic variants in have been associated with a wide spectrum of muscular conditions: the laminopathies. -related congenital muscular dystrophy is a laminopathy characterised by the early onset of symptoms and often leads to a fatal outcome at young ages. Children face a heightened risk of malignant arrhythmias.

Aromaticity in the Spectroscopic Spotlight of Hexaphyrins.

Spectroscopic properties are commonly used in the experimental evaluation of ground- and excited-state aromaticity in expanded porphyrins. Herein, we investigate if the defining photophysical properties still hold for a diverse set of hexaphyrins with varying redox states, topologies, peripheral substitutions, and core-modifications. By combining TD-DFT calculations with several aromaticity descriptors and chemical compound space maps, the intricate interplay between structural planarity, aromaticity, and absorption spectra is elucidated.

A synchronized, large-scale field experiment using Arabidopsis thaliana reveals the significance of the UV-B photoreceptor UVR8 under natural conditions.

This study determines the functional role of the plant ultraviolet-B radiation (UV-B) photoreceptor, UV RESISTANCE LOCUS 8 (UVR8) under natural conditions using a large-scale 'synchronized-genetic-perturbation-field-experiment'. Laboratory experiments have demonstrated a role for UVR8 in UV-B responses but do not reflect the complexity of outdoor conditions where 'genotype × environment' interactions can mask laboratory-observed responses. Arabidopsis thaliana knockout mutant, uvr8-7, and the corresponding Wassilewskija wild type, were sown outdoors on the same date at 21 locations across Europe, ranging from 39°N to 67°N latitude.

Simple on-site extraction and GC-MS analysis of rotenone and degradation products for monitoring invasive fish eradication treatments in fresh and brackish waters.

The introduction of invasive fish species to aquatic ecosystems has been demonstrated to cause disastrous ecological effects. Current conservation strategies regard rotenone-containing piscicide formulations, such as commercial product CFT Legumine, as a potentially viable alternative to the cumbersome traditional approaches to fish eradication. This consideration relies on the fast degradation of rotenone and its relatively rapid dissipation from the environment.

PExM: polyplex expansion microscopy for cell trafficking studies.

Nanomedicine is a field at the intersection of nanotechnology and medicine, promising due to its potential to revolutionize healthcare. Despite its long trajectory, there is still a long road ahead for its full development, and smart design of nanomedicines is still a challenge. Among other problems, this is due to the scarcity of tools available for the precise visualization and comprehension of nano-bio interactions, impeding progress towards the clinical phase.

Ligation of multiple protein domains using orthogonal inteins with non-native splice junctions.

Protein splicing is a self-catalyzed process in which an internal protein domain (the intein) is excised from its flanking sequences, linking them together with a canonical peptide bond. Trans-inteins are separated in two different precursor polypeptide chains that must assemble to catalytically self-excise and ligate the corresponding flanking exteins to join even when expressed separately either in vitro or in vivo. They are very interesting to construct full proteins from separate domains because their common small size favors chemical synthesis approaches.

Changes In Serum CXCL13 Levels Are Associated With Outcomes of Colorectal Cancer Patients Undergoing First-Line Oxaliplatin-Based Treatment.

Metastatic colorectal cancer (mCRC) currently lacks reliable biomarkers for precision medicine, particularly for chemotherapy-based treatments. This study examines the behavior of 11 CXC chemokines in the blood of 104 mCRC patients undergoing first-line oxaliplatin-based treatment to pinpoint predictive and prognostic markers. Serum samples were collected before treatment, at response evaluation (EVAR), and at disease progression or last follow-up.

Spatiotemporal organization of ant foraging from a complex systems perspective.

We use complex systems science to explore the emergent behavioral patterns that typify eusocial species, using collective ant foraging as a paradigmatic example. Our particular aim is to provide a methodology to quantify how the collective orchestration of foraging provides functional advantages to ant colonies. For this, we combine (i) a purpose-built experimental arena replicating ant foraging across realistic spatial and temporal scales, and (ii) a set of analytical tools, grounded in information theory and spin-glass approaches, to explore the resulting data.

Quantification of the Donor-Acceptor Character of Ligands by the Effective Fragment Orbitals.

Metal-ligand interactions are at the heart of transition metal complexes. The Dewar-Chat-Duncanson model is often invoked, whereby the metal-ligand bonding is decomposed into the simultaneous ligand→metal electron donation and the metal→ligand back-donation. The separate quantification of both effects is not a trivial task, neither from experimental nor computational exercises.

Evaluation of the ODISEA APP for improving a STEMI regional network.

Background: The use of technological innovations in ST elevation myocardial infarction (STEMI) care networks has been shown to be effective in improving information flow and coordination, and thus reducing the time to reperfusion. We developed a smartphone application called ODISEA to improve our STEMI care network and evaluated the results of its use.

Method: Quasi-experimental study that compared the outcomes of STEMI suspected patients with an alert and indication for transfer to a cath lab during a previous period and a period in which the ODISEA APP was used.

Disinfection by-product formation potential in response to variability in dissolved organic matter and nutrient inputs: Insights from a mesocosm study.

Changes in rainfall patterns driven by climate change affect the transport of dissolved organic matter (DOM) and nutrients through runoff to freshwater systems. This presents challenges for drinking water providers. DOM, which is a heterogeneous mix of organic molecules, serves as a critical precursor for disinfection by-products (DBPs) which are associated with adverse health effects.

Retirements of professional tennis players in second- and third-tier tournaments on the ATP and WTA tours.

The demands of professional tennis, including physical and psychological aspects, contribute to the frequency of retirements at elite levels of the sport. The aim of this study was to analyze epidemiological patterns and risk factors associated with retirements in previous ATP and WTA Tour tournaments. A retrospective cohort study was conducted.

Effectiveness of the low-density lipoprotein cholesterol goals in secondary cardiovascular prevention.

Background: The effectiveness of statin treatment to reduce coronary events and mortality has been hardly examined considering goals of LDL-C. We aimed to analyse such association in secondary cardiovascular prevention.

Methods: Retrospective cohort analysis of electronic health records from the SIDIAP database, Catalonia-Spain.

Optimal scheduler for energy consumption reduction in multi-vector energy management systems: A case study at the Port of Borg.

The objective of microgrid operation is to supply the energy demanded by the loads at minimum cost. To achieve this goal, new tools are being proposed in the literature, such as the use of optimal schedulers in the field of multi-vector management systems. An optimal scheduler provides the hourly schedule of the flexible loads that exist in a microgrid to maximize the use of local renewable resources.

Rhytidome- and cork-type barks of holm oak, cork oak and their hybrids highlight processes leading to cork formation.

Background: The periderm is basic for land plants due to its protective role during radial growth, which is achieved by the polymers deposited in the cell walls. In most trees, like holm oak, the first periderm is frequently replaced by subsequent internal periderms yielding a heterogeneous outer bark made of a mixture of periderms and phloem tissues, known as rhytidome. Exceptionally, cork oak forms a persistent or long-lived periderm which results in a homogeneous outer bark of thick phellem cell layers known as cork.

Iadademstat in combination with azacitidine in patients with newly diagnosed acute myeloid leukaemia (ALICE): an open-label, phase 2a dose-finding study.

Background: Iadademstat is a potent, selective, oral inhibitor of both the enzymatic and scaffolding activities of the transcriptional repressor lysine-specific demethylase 1 (LSD1; also known as KDM1A) that showed promising early activity and safety in a phase 1 trial and strong preclinical synergy with azacitidine in acute myeloid leukaemia cell lines. Therefore, we aimed to investigate the combination of iadademstat and azacitidine for the treatment of adult patients with newly diagnosed acute myeloid leukaemia.

Methods: The open-label, phase 2a, dose-finding ALICE study was conducted at six hospitals in Spain and enrolled patients aged 18 years or older with newly diagnosed acute myeloid leukaemia not eligible for intensive chemotherapy and an ECOG performance status of 0-2.

[Translated article] Vitamin D and Skin Cancer: A Controversial Society. Literature Update and Review.

Vitamin D (VD) deficiency has been associated with various tumors. However, the association between VD and skin cancer is controversial. Although in non-melanoma skin cancer, adequate or even high levels of VD can be associated with a higher risk of developing tumors, this could be biased by the direct association between sun exposure and VD levels.

Impact of specialized training for emergency department nurses screening or undetected HIV infection: the "Urgències VIHgila" project experience.

Objectives: To evaluate the impact of specialized training for nurses on selective screening for undetected HIV infection in the emergency department.

Material And Methods: The intervention group was comprised of 6 emergency departments that had been participating in a screening program (the "Urgències VIHgila" project) for at least 3 months. Nurses on all shifts attended training sessions that emphasized understanding the circumstances that should lead to suspicion of unidentified HIV infection and the need to order serology.

Light-Induced Reactivity Switch at O-Activating Bioinspired Copper(I) Complexes.

Using light to unveil unexplored reactivities of earth-abundant metal-oxygen intermediates is a formidable challenge, given the already remarkable oxidation ability of these species in the ground state. However, the light-induced reactivity of Cu-O intermediates still remains unexplored, due to the photoejection of O under irradiation. Herein, we describe a photoinduced reactivity switch of bioinspired O-activating Cu complexes, based on the archetypal tris(2-pyridyl-methyl)amine () ligand.

Neuropsychological profiles in first-episodes psychosis and their relationship with clinical, metacognition and social cognition variables.

An increasing interest in the assessment of neuropsychological performance variability in people with first-episode psychosis (FEP) has emerged. However, its association with clinical and functional outcomes requires further study. Furthermore, FEP neuropsychological subgroups have not been characterized by clinical insight or metacognition and social cognition domains.