A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Background And Purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.

Regressions on quantum neural networks at maximal expressivity.

Considering a universal deep neural network organized as a series of nested qubit rotations, accomplished by adjustable data re-uploads we analyze its expressivity. This ability to approximate continuous functions in regression tasks is quantified making use of a partial Fourier decomposition of the generated output and systematically benchmarked with the aid of a teacher-student scheme. While the maximal expressive power increases with the depth of the network and the number of qubits, it is fundamentally bounded by the data encoding mechanism.

Guidelines for the standardization of pre-analytical variables for salivary biomarker studies in Alzheimer's disease research: An updated review and consensus of the Salivary Biomarkers for Dementia Research Working Group.

There is a pressing need for accessible biomarkers with high diagnostic accuracy for Alzheimer's disease (AD) diagnosis to facilitate widespread screening, particularly in underserved groups. Saliva is an emerging specimen for measuring AD biomarkers, with distinct contexts of use that could complement blood and cerebrospinal fluid and detect various analytes. An interdisciplinary, international group of AD and related dementias (ADRD) researchers convened and performed a narrative review of published studies on salivary AD biomarkers.

The impact of track and field training on dynapenia: gender differences in age-related decline of vertical jump performance among older adults.

Introduction: Alongside sarcopenia, the age-related loss of muscle strength and power, known as dynapenia, increases the risk of functional disability and mortality in older adults. However, engaging in sporting activities during old age appears to enhance functional capacity. The differences in effects between athletes and sedentary individuals, as well as between genders, have yet to be fully clarified.

Integration of responses to lithium in mussels at different levels of biological complexity.

The increasing use of lithium (Li) in modern technology and medicine has raised up concerns in the scientific community due to the potential impact of this metal on the aquatic environment. Although several effects have been reported in different organisms, there is still scarce information concerning the mechanisms and chronic effects of Li toxicity in marine life. Our main objective is to determine biological effects of sub-lethal concentrations in Mytilus galloprovincialis at different biological organization levels using the biomarker approach.

Effects of stretching exercise on walking performance and balance in older adults: A systematic review and meta-analysis.

This systematic review aimed to analyse the literature on the effects of stretching exercise as a strategy to improve walking performance and balance in older adults. A literature search was performed in five databases up to October 2023 for randomized clinical trials addressing the effects of stretching exercise programs in older adults. The methodological quality was evaluated through the PEDro scale.

Evaluating prognostic factors for falls in Parkinson's disease: A sex-based analysis.

Introduction: Falls are a common and debilitating complication in Parkinson's disease (PD). Previous studies have primarily focused on cohorts with prevalent falls or advanced disease stages. This study assessed risk factors for falls in early-stage falls-naïve cohort stratified by sex.

Effects of intramuscular administration of Platelet-Rich Plasma on denervated muscle after peripheral nerve injury.

Purpose: After peripheral nerve injury (PNI), prolonged denervation of the target muscle prevents adequate reinnervation even if the nerve is repaired. The aim of this work is to analyze the effect of intramuscular Platelet-Rich Plasma (PRP) in a denervated muscle due to PNI.Materials and.

Point-of-care additive manufacturing: state of the art and adoption in Spanish hospitals during pre to post COVID-19 era.

Background: 3D technologies [Virtual and Augmented 3D planning, 3D printing (3DP), Additive Manufacturing (AM)] are rapidly being adopted in the healthcare sector, demonstrating their relevance in personalized medicine and the rapid development of medical devices. The study's purpose was to understand the state and evolution of 3DP/AM technologies at the Point-of-Care (PoC), its adoption, organization and process in Spanish hospitals and to understand and compare the evolution of the models, clinical applications, and challenges in utilizing the technology during the COVID-19 pandemic and beyond.

Methods: This was a questionnaire-based qualitative and longitudinal study.

From Genetics to Psychosocial Functioning: Unraveling the Mediating Roles of Cognitive Reserve, Cognition, and Negative Symptoms in First-Episode Psychosis.

Background: Studies have shown associations between polygenic risk scores for educational attainment (PRS), cognitive reserve (CR), cognition, negative symptoms (NS), and psychosocial functioning in first-episode psychosis (FEP). However, their specific interactions remain unclear. This study aimed to investigate the mediating roles of CR, cognition, and NS in the relationship between PRS and psychosocial functioning one year after a FEP.

AR-assisted surgery: Precision placement of patient specific hip implants based on 3D printed PSIs.

Patient-specific implant placement in the case of pelvic tumour resection is usually a complex procedure, where the planned optimal position of the prosthesis may differ from the final location. This discrepancy arises from incorrect or differently executed bone resection and improper final positioning of the prosthesis. In order to overcome such mismatch, a navigation solution is presented based on an augmented reality application for HoloLens 2 to assist the entire procedure.

Prediction of total lipids and fatty acids in black soldier fly (Hermetia illucens L.) dried larvae by NIR-hyperspectral imaging and chemometrics.

The unique fatty acid composition of BSF larvae oil makes it suitable for various applications, including use in animal feed, aquaculture, biodiesel production, biomaterials, and the food industry. Determination of BSF larvae composition usually requires analytical methods with chemicals, thus needing emerging techniques for fast characterization of its composition. In this study, Near Infrared Hyperspectral Imaging (NIR-HSI) (928 - 2524 nm) coupled with chemometrics was applied to predict the lipid content and fatty acid composition in intact black soldier fly (BSF) larvae.

The Spanish version of the Level of Personality Functioning Scale - Brief Form 2.0 (LPFS-BF 2.0): Psychometric evaluation in adolescents who have suffered from parental abuse and neglect and a community sample.

Given shifts to dimensional models of personality pathology and a growing consensus that personality disorder (PD) often onsets during adolescence, there is a need for validated measures of PD in adolescents. Level of Personality Functioning (LPF) is particularly relevant for the identification of emerging personality dysfunction in adolescents given its ability to capture developmental discontinuity as metacognitive capacities in self- and interpersonal-functioning emerge. However, no studies as of yet have validated a measure of LPF in a sample of Spanish-speaking adolescents.

Steering perovskite precursor solutions for multijunction photovoltaics.

Multijunction photovoltaics (PVs) are gaining prominence owing to their superior capability of achieving power conversion efficiencies (PCEs) beyond the radiative limit of single-junction cells, where improving narrow bandgap tin-lead perovskites is critical for thin-film devices. With a focus on understanding the chemistry of tin-lead perovskite precursor solutions, we herein find that Sn(II) species dominate interactions with precursors and additives and uncover the exclusive role of carboxylic acid in regulating solution colloidal properties and film crystallisation, and ammonium in improving film optoelectronic properties. Materials that combine these two function groups, amino acid salts, considerably improve the semiconducting quality and homogeneity of perovskite films, surpassing the effect of the individual functional groups when introduced as part of separate molecules.

Surface-enhanced Raman spectroscopy: a half-century historical perspective.

Surface-enhanced Raman spectroscopy (SERS) has evolved significantly over fifty years into a powerful analytical technique. This review aims to achieve five main goals. (1) Providing a comprehensive history of SERS's discovery, its experimental and theoretical foundations, its connections to advances in nanoscience and plasmonics, and highlighting collective contributions of key pioneers.

Development of smart films based on soy protein and cow horn dissolved in a deep eutectic solvent: Physicochemical and environmental assessment.

With the urge to reduce the use of petroleum-based materials, the aim of this work is to valorize biowaste to develop smart films through a sustainable fabrication way. In this regard, choline chloride/urea (1:2) deep eutectic solvent (DES) at different concentrations (25, 40, 50 and 75 wt%) was used to dissolve cow horn, used as reinforcement agent in soy protein films. The film fabrication was carried out by compression molding, a fast and cost-effective.

Summer Ostreopsis blooms in San Sebastian (South-East Bay of Biscay): The importance of substrate features.

During summer 2020 and 2021, harmful episodes of Ostreopsis were first reported in the Bay of Biscay, affecting the Spanish Basque coast, specifically the city of San Sebastian. This led to implement samplings during summer 2022 and 2023 within this region; two close sites distinguished, primarily, by their substrate features were selected. The abundances of Ostreopsis spp.

Shotgun metagenomic sequencing reveals the influence of artisanal dairy environments on the microbiomes, quality, and safety of Idiazabal, a raw ewe milk PDO cheese.

Background: Numerous studies have highlighted the impact of bacterial communities on the quality and safety of raw ewe milk-derived cheeses. Despite reported differences in the microbiota among cheese types and even producers, to the best of our knowledge, no study has comprehensively assessed all potential microbial sources and their contributions to any raw ewe milk-derived cheese, which could suppose great potential for benefits from research in this area. Here, using the Protected Designation of Origin Idiazabal cheese as an example, the impact of the environment and practices of artisanal dairies (including herd feed, teat skin, dairy surfaces, and ingredients) on the microbiomes of the associated raw milk, whey, and derived cheeses was examined through shotgun metagenomic sequencing.

Oral epithelial dysplasia with lichenoid features shares proteomic overlap with oral epithelial dysplasia without lymphocytic immune response.

Objective: This study investigates the proteomic profiles of oral epithelial dysplasia with lichenoid features (OEDwithLF) and evaluates its relevance as a histopathological feature for lichenoid mucositis (LM) through differential proteomic characterization.

Study Design: SWATH-MS proteomic profiling was conducted on FFPE samples from 6 OEDwithLF, 5 OED cases without associated lymphocytic infiltration, and 5 LM cases. Protein expression levels were quantified and compared.

Assembling Ancestors: the manipulation of Neolithic and Gallo-Roman skeletal remains from Pommerœul, Belgium.

The ancient cemetery of Pommerœul, Belgium, was classified as Gallo-Roman in the 1970s', yielding 76 cremation graves and one inhumation. However, subsequent radiocarbon analyses dated the inhumation to the Late Neolithic (4-3 millennium calBC). We report osteoarchaeological analysis indicating that the inhumation was composed of bones from multiple individuals, afterwards buried as "one".

Buried hole-selective interface engineering for high-efficiency tin-lead perovskite solar cells with enhanced interfacial chemical stability.

Mixed Sn-Pb perovskites are attracting significant attention due to their narrow bandgap and consequent potential for all-perovskite tandem solar cells. However, the conventional hole transport materials can lead to band misalignment or induce degradation at the buried interface of perovskite. Here we designed a self-assembled material 4-(9H-carbozol-9-yl)phenylboronic acid (4PBA) for the surface modification of the substrate as the hole-selective contact.

Ensemble habitat suitability model predicts Suaeda salsa distribution and resilience to extreme climate events.

Climate anomalies lead to an increased occurrence of extreme temperature and drought events in coastal wetlands, resulting in heightened survival pressure on salt marsh plants. It is imperative to anticipate the effects of these events on the habitat suitability and resilience of coastal salt marsh vegetation to inform restoration efforts and management strategies. Herein, an ensemble model was developed to evaluate the recovery of Suaeda Salsa in the two subsequent years following the anomalously high temperatures and decreased precipitation experienced during the summer of 2018, potentially leading to a decline in this species in the eastern coast of Liaohe Estuary wetland (Bohai Sea, China).

Improving the reliability of phthalate esters analysis in water samples by gas chromatography-tube plasma ionization-high-resolution mass spectrometry (GC-TPI-HRMS).

The monitoring of phthalate esters (PAEs) is challenging due to background contamination as well as the low selectivity observed when analyzing them by gas chromatography coupled to mass spectrometry (GC-MS) using electron ionization (EI). In this sense, alternative and soft ionization techniques could help to enhance the performance of the analytical determinations of PAEs in food samples. In this work, the use of a novel and soft ionization technique tube plasma ionization (TPI) has been explored to enhance the selectivity and sensitivity in the determination of PAEs in drinking water samples with GC-MS.