Drug Development.

Background: Alzheimer's and related disorders (ADRD) represent a range of neurodegenerative conditions characterized by abnormal protein deposits in the brain. Despite advances, there is a need for enhanced diagnostic and treatment approaches that acknowledge the diversity of ADRD. This project introduces the Alzheimer's and Related Disorders Multicenter Archive (ARMA), a collaborative platform with an advanced Electronic Data Capture (EDC) system linked to Electronic Medical Records (EMR) designed to refine ADRD diagnosis and natural history understanding, thus informing precision medicine.

Dementia Care Research and Psychosocial Factors.

Background: Due to further development of diagnostic methods of early-stage diagnosis of Alzheimer's disease (AD) and new disease-modifying treatment options that require early diagnosis, a new focus on predictive and preventive medicine arises. With progress in AD dementia risk estimation, guidelines for counseling, considering individual aspects of those affected, are becoming more important. As part of the trinational project PreTAD (The Predictive Turn in Alzheimer's Disease: Ethical, Clinical, Linguistic and Legal Aspects) anticipated effects of AD dementia risk estimation for first-degree relatives of people with AD dementia are evaluated.

Dementia Care Research and Psychosocial Factors.

Background: Although Alzheimer's disease (AD) is a common cause of dementia, whether patients and caregivers have notions of its risk factors, behavioral aspects or care considerations is unclear. Therefore, our study aims to evaluate caregiver's knowledge of AD by using the Alzheimer's Disease Knowledge Scale (ADKS).

Method: The ADKS is a comprehensive 25-item true/false assessment tool that explores the understanding of AD.

Dementia Care Research and Psychosocial Factors.

Background: Driven by (bio-)medical and technical developments, advanced non-invasive methods for estimating the risk of Alzheimer's dementia (ADD) are increasingly emerging. In the future, such methods could eventually become available for individuals in asymptomatic and preclinical stages of Alzheimer's disease (e.g.

Dementia Care Research and Psychosocial Factors.

Background: Although primary progressive aphasia (PPA) is considered a rarer form of dementia, individuals living with PPA are increasingly identified by healthcare professionals. Research investigating speech-language assessment and intervention in PPA has been conducted primarily in monolingual speakers and little is known about clinical decision-making of speech-language pathologists (SLPs) working with bilinguals with PPA.

Methods: A comprehensive survey containing questions regarding clinician confidence, prioritization, and ratings of basic competency for Volkmer, Cartwright, Ruggero et al.

Technology and Dementia Preconference.

Background: Alzheimer's Disease (AD) is associated with sleep disturbances. Moreover, individuals with sleep disturbances have been reported to have a higher risk for developing AD. The measurement of sleep behavior therefore opens the opportunity for a potential digital biomarker of AD.

Technology and Dementia Preconference.

Background: Primary progressive aphasia (PPA) is a language-based dementia linked with underlying Alzheimer's disease (AD) or frontotemporal dementia. Clinicians often report difficulty differentiating between the logopenic (lv) and nonfluent/agrammatic (nfv) subtypes, as both variants present with disruptions to "fluency" yet for different underlying reasons. In English, acoustic and linguistic markers from connected speech samples have shown promise in machine learning (ML)-based differentiation of nfv from lv.

Technology and Dementia Preconference.

Background: Changes in speech and language functions have shown to be early symptoms of AD pathology. Recent developments in automatic speech and language processing have opened avenues for objective assessments of these changes. The primary objective of this study is to explore whether speech and language markers extracted from cognitive testing conducted during an automated phone call differ according to underlying AD pathology as measured in cerebrospinal fluid (CSF) in preclinical or early stage individuals.

Reactivity and Mechanism of Recoverable Pd@CN Single-Atom Catalyst in Buchwald-Hartwig Aminations.

Buchwald-Hartwig (BH) aminations are crucial for synthesizing arylamine motifs in numerous bioactive molecules and fine chemicals. While homogeneous palladium complexes can be effective catalysts, their high costs and environmental impact motivate the search for alternative approaches. Heterogeneous palladium single-atom catalysts (SAC) offer promising recoverable alternatives in C-C cross-couplings.

Balancing Activity and Stability through Compositional Engineering of Ternary PtNi-Au Alloy ORR Catalysts.

Achieving the optimal balance between cost-efficiency and stability of oxygen reduction reaction (ORR) catalysts is currently among the key research focuses aiming at reaching a broader implementation of proton-exchange membrane fuel cells (PEMFCs). To address this challenge, we combine two well-established strategies to enhance both activity and stability of platinum-based ORR catalysts. Specifically, we prepare ternary PtNi-Au alloys, where each alloying element plays a distinct role: Ni reduces costs and boosts ORR activity, while Au enhances stability.

Real-world effectiveness and safety of second- or third-line pegylated liposomal irinotecan plus 5-fluorouracil and folinic acid in pancreatic ductal adenocarcinoma in Spain.

Treatment with pegylated nanoliposomal irinotecan (nal-IRI) plus 5-fluorouracil/leucovorin (folinic acid; 5-FU/LV) has demonstrated remarkable efficacy for metastatic pancreatic ductal adenocarcinoma (PDAC) in clinical trials. However, real-world data on the effectiveness of nal-IRI+5-FU/LV is heterogeneous and is lacking in Spain. To assess the effectiveness and safety of nal-IRI+5-FU/LV in real-life PDAC patients in Spain.

Stress shielding in reverse shoulder arthroplasty using a proximally coated stem for proximal humeral fractures: Does it have clinical relevance?

Objectives: To evaluate the clinical significance of stress shielding in patients who have undergone an uncemented reverse shoulder arthroplasty (RSA) with a proximally coated stem for complex proximal humeral fractures (PHF) comprising 3 or 4 parts, assessed at 2 years postoperatively. Additionally, this study aims to examine the correlation between tuberosity healing and clinical outcomes.

Methods: Single Centre.

First Palmar Intermetacarpal Flap for Congenital First Web Contracture: A Case Series.

Background: Pediatric first web space contractures of the hand can lead to disability in hand function. Several techniques have been proposed for treating this condition. Recently, a new technique involving the first palmar cutaneous flap was described in a cadaveric study.

Machine Learning Algorithms in Controlled Donation After Circulatory Death Under Normothermic Regional Perfusion: A Graft Survival Prediction Model.

Background: Several scores have been developed to stratify the risk of graft loss in controlled donation after circulatory death (cDCD). However, their performance is unsatisfactory in the Spanish population, where most cDCD livers are recovered using normothermic regional perfusion (NRP). Consequently, we explored the role of different machine learning-based classifiers as predictive models for graft survival.

Disease activity in patients with idiopathic inflammatory myopathy according to time since diagnosis and positivity to antisynthetase autoantibodies: data from the Myo-Spain registry.

Objective: To evaluate the main outcomes of disease activity and their association with other measures of activity, damage, and quality of life in patients with idiopathic inflammatory myopathy (IIM) according to time since diagnosis and positivity to antisynthetase autoantibodies (ASAs).

Methods: Cross-sectional multicenter study within the Spanish Myo-Spain registry. Cases were classified as incident (≤ 12 months since diagnosis) and prevalent.

Decreased impulsiveness and MEG normalization after AI-digital therapy in ADHD children: a RCT.

Attention-deficit/hyperactivity disorder (ADHD) presents with symptoms like impulsiveness, inattention, and hyperactivity, often affecting children's academic and social functioning. Non-pharmacological interventions, such as digital cognitive therapy, are emerging as complementary treatments for ADHD. The randomized controlled trial explored the impact of an AI-driven digital cognitive program on impulsiveness, inattentiveness, and neurophysiological markers in 41 children aged 8-12 with ADHD.

Site-saturation mutagenesis of 500 human protein domains.

Missense variants that change the amino acid sequences of proteins cause one-third of human genetic diseases. Tens of millions of missense variants exist in the current human population, and the vast majority of these have unknown functional consequences. Here we present a large-scale experimental analysis of human missense variants across many different proteins.

Molecular and cellular dynamics of the developing human neocortex.

The development of the human neocortex is highly dynamic, involving complex cellular trajectories controlled by gene regulation. Here we collected paired single-nucleus chromatin accessibility and transcriptome data from 38 human neocortical samples encompassing both the prefrontal cortex and the primary visual cortex. These samples span five main developmental stages, ranging from the first trimester to adolescence.

Diagnosing Helicobacter pylori using autoencoders and limited annotations through anomalous staining patterns in IHC whole slide images.

Purpose: This work addresses the detection of Helicobacter pylori (H. pylori) in histological images with immunohistochemical staining. This analysis is a time-demanding task, currently done by an expert pathologist that visually inspects the samples.

Efficacy outcomes of CDK4/6 inhibitors in combination with endocrine therapy treatment in hormone receptor-positive/HER2-negative advanced breast cancer according to PAM50 intrinsic subtype: Primary results of SOLTI-1801 CDK-PREDICT study.

Introduction: The prognostic value of PAM50 intrinsic subtypes (IS), cell cycle, and immune-related gene expression in HR+ /HER2- advanced breast cancer (BC) treated with CDK4/6 inhibitors (CDK4/6i) and endocrine therapy (ET) in a first-line metastatic setting is unclear. This study evaluates these biomarkers in metastatic biopsies from patients diagnosed with HR+ /HER2- advanced BC.

Methods: CDK-PREDICT study is a multicentric, ambispective observational cohort study conducted in six Spanish hospitals.

Efficacy and safety of the PHIL embolic agent in the treatment of intracranial dural arteriovenous fistulas: results of the PHIL-dAVF study.

Background And Purpose: Embolization is the first-line treatment for dural arteriovenous fistulas (dAVF). The precipitating hydrophobic injectable liquid (PHIL) embolic agent is a non-adhesive copolymer with specific features and endovascular behavior. This study assessed its safety and efficacy in a prospective real-life cohort.

Artificial intelligence in rheumatology research: what is it good for?

Artificial intelligence (AI) is transforming rheumatology research, with a myriad of studies aiming to improve diagnosis, prognosis and treatment prediction, while also showing potential capability to optimise the research workflow, improve drug discovery and clinical trials. Machine learning, a key element of discriminative AI, has demonstrated the ability of accurately classifying rheumatic diseases and predicting therapeutic outcomes by using diverse data types, including structured databases, imaging and text. In parallel, generative AI, driven by large language models, is becoming a powerful tool for optimising the research workflow by supporting with content generation, literature review automation and clinical decision support.

Safety of steroids in severe community-acquired pneumonia.

The systemic use of corticosteroids for patients with severe community-acquired pneumonia (sCAP) remains controversial in clinical practice, particularly in terms of the safety profile of these drugs. This narrative review aims to analyse the available literature data concerning the safety of short-term steroid use in the treatment of sCAP, while also highlighting potential future research directions. Several trials and meta-analyses have evaluated corticosteroid therapy as an adjuvant treatment for sCAP, yielding heterogeneous results regarding its efficacy and safety.

Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.

Constitutional variants in the RB1 gene predispose individuals to the development of Retinoblastoma (RB) and the occurrence of second tumors in adulthood. Detection of causal RB1 gene variants is essential to establish the genetic diagnosis and to performing familial studies and counseling. In our cohort of 579 Spanish RB patients, 15% of cases suspected to have a genetic origin remained negative after traditional Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) of RB1 gene, likely due to the possibility of mosaicism or non-coding variants.

Risk factors for one-year mortality in 440 femoral peri-implant fractures: insights from the PIPPAS prospective, multicentre, observational study.

Aims: The Peri-Implant and PeriProsthetic Survival AnalysiS (PIPPAS) study aimed to investigate the risk factors for one-year mortality of femoral peri-implant fractures (FPIFs).

Methods: This prospective, multicentre, observational study involved 440 FPIF patients with a minimum one-year follow-up. Data on demographics, clinical features, fracture characteristics, management, and mortality rates were collected and analyzed using both univariate and multivariate analyses.