Dominant-negative NARS1 R534* mutation causes wild-type subunit poisoning and heterodimer predominance in cells.

Aminoacyl-tRNA synthetases (aaRSs) catalyze the aminoacylation of tRNA with their cognate amino acids, an essential step in protein biosynthesis. While biallelic mutations in aaRSs often result in severe multi-organ dysfunction accompanied by developmental delays, monoallelic mutations typically cause milder, tissue-specific symptoms. However, a de novo monoallelic nonsense mutation (R534*) in the asparaginyl-tRNA synthetase (AsnRS)-resulting in a premature stop codon and 15-residue C-terminal truncation-has been identified in multiple families and is associated with severe neurodevelopmental symptoms.

Exploring touch-colour associations in achromatopsia: A case study.

Crossmodal correspondences - systematic mappings between stimulus attributes in different modalities - are ubiquitous in the general population. For example, high-pitched (vs low-pitched) sounds are commonly associated with elevated (vs low) positions in space, and rounded (vs angular) shapes tend to be linked to the term 'Bouba' (vs 'Kiki'). There is still some debate about the role of immediate sensory experience versus conceptual colour understanding in crossmodal correspondences.

Performance of non-invasive prenatal testing in vanishing-twin and multiple pregnancies: results of TRIDENT-2 study.

Objective: To evaluate the performance of non-invasive prenatal testing (NIPT) in vanishing-twin and multiple pregnancies.

Methods: This study was conducted as part of the TRIDENT-2 study, in which NIPT was offered as a first-tier screening test to women with a multiple pregnancy or vanishing-twin pregnancy between 1 June 2020 and 31 March 2023 in The Netherlands. Abnormal NIPT results were investigated by follow-up invasive prenatal testing and/or postnatal genetic testing.

Leukocytes use endothelial membrane tunnels to extravasate the vasculature.

Upon inflammation, leukocytes extravasate through endothelial cells. When they extravasate, it is generally accepted that neighboring endothelial cells disconnect. Careful examination of endothelial junctions showed a partial membrane overlap beyond VE-cadherin distribution.

A Practical Prenatal Ultrasound Classification System for Lower Limb Anomalies-PRELLIM Classification.

Objective: To address the current lack of a prenatal classification system for fetal lower limb anomalies, we developed and evaluated the PRELLIM (PREnatal Lower LIMb impairment) classification.

Method: A systematic literature review was conducted to identify existing classifications. Based on sonographic features, we developed the PRELLIM classification and applied it to a retrospective cohort of fetuses with isolated lower limb anomalies assessed between 2007 and 2024 at Amsterdam UMC's fetal medicine unit.

Exploring the Frontiers of Technology in Forensic Psychiatric Youth Care: Ethical Challenges.

Technologies such as virtual reality, wearables, and mobile apps have the potential to improve forensic psychiatric treatment of youths. Meanwhile, these technological advancements have given rise to new, complex ethical challenges. Paying attention to ethics is especially relevant in forensic psychiatric youth settings because of the often coercive context of treatment and the vulnerable patient population.

Fitting accuracy of preformed osteosynthesis plates for zygomaticomaxillary complex fractures.

Background: Preformed osteosynthesis plates are a novel treatment option for the fixation of zygomaticomaxillary complex (ZMC) fractures. A preformed plate may improve the reduction accuracy, as an accurate fit and sufficient fixation possibilities are provided.

Purpose: This study aimed to evaluate the virtual fitting accuracy of preformed anatomical osteosynthesis zygoma plates and to assess whether their shape and size are adequate for ZMC fracture treatment.

Implementing Federated Analysis using DataSHIELD in the DREAM TO TREAT Atopic Dermatitis Registries Collaboration.

Many new biologic treatments and small molecule agents are emerging and being approved for treating atopic dermatitis (AD). Robust evidence, based on large sample sizes from real-world clinical settings, are needed to investigate the use of these new therapies, However, adequate sample sizes of patient data are difficult to obtain within one country alone, requiring international collaboration and data aggregation. To address this need for cooperative research, we investigated the feasibility for an international collaboration of registries to gather data from real-world clinical settings on patients' use of new systemic treatments for AD by creating a federated network between national registries that enables an analysis environment protecting privacy of information and ensuring compliance with General Data Protection Regulation.

Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy: A 3-Year Natural History Study.

Background And Objectives: Slow and highly variable disease progression in Becker muscular dystrophy (BMD) stresses the need to develop sensitive outcome measures for clinical trials. We evaluated responsiveness of different outcome measures in adult patients with BMD over 3 years and explored if the sensitivity of outcome measures can be increased by selecting on phenotype or genotype.

Methods: Genetically confirmed patients with BMD were recruited via the Dutch Dystrophinopathy Database.

Joint models reveal human subcortical underpinnings of choice and learning behavior.

Decision making and learning processes together enable adaptive strategic behavior. Animal studies demonstrated the importance of subcortical regions in these cognitive processes, but the human subcortical contributions remain poorly characterized. Here, we study choice and learning processes in the human subcortex, using a tailored ultra-high field 7T functional MRI protocol combined with joint models.

Implementing high-quality cancer survivorship care in primary care: future directions for policy and research.

Nearly 20 million people in the U.S. are living with and beyond a cancer diagnosis, many of whom survive for decades after treatment.

De novo genome sequencing and comparative analyses of the clinically relevant species Mucor ardhlaengiktus, Mucor circinelloides, Mucor griseocyanus, and Mucor janssenii.

Mucormycosis is predominantly caused by members of the genera Lichtheima, Mucor, and Rhizopus. Here, we report the genome assemblies and comparative analyses of the clinically relevant species Mucor ardhlaengiktus (CBS 210.80), Mucor circinelloides (CBS 195.

Lipidomic Signature of Abdominal Aortic Aneurysm and Peripheral Artery Disease.

Vascular diseases are powerful predictors of cardiovascular mortality, but they are typically under-recognized and undertreated. There is no effective treatment for either abdominal aortic aneurysm (AAA) or peripheral artery disease (PAD). Lipids are key molecules in cardiovascular diseases and good candidates for diagnosis, monitoring, and risk prediction; nonetheless, there is very limited information on the lipidomic profile of patients with AAA and PAD.

PTSD Symptoms After Traumatic Versus Stressful Life Events in People With Mild Intellectual Disabilities: Proving the Null.

Background: Research in people without ID suggests that both traumatic events (i.e., A criterion events) and stressful life events (i.

Network Meta-Analysis of Quality of Life in Heart Failure With Reduced Ejection Fraction.

Background: Although the effects of various combinations of treatments on mortality and morbidity outcomes in heart failure with reduced ejection fraction (HFrEF) have been evaluated, the impact on quality of life is unknown. This study evaluated and compared the composite impact of pharmacological therapies on quality of life in HFrEF using a frequentist network meta-analysis and systematic review methodology.

Methods: We searched MEDLINE, EMBASE, and Cochrane Central Register of Controlled Trials for randomized controlled trials published between January 1, 2021 and August 10, 2024.

Statistical Gems and Cautions From the Statistical Advisory Board of Clinical Oral Implants Research.

Objective: Statistics is fundamental in implant dentistry research, playing a crucial role in study design, data analysis, and interpretation of findings. This editorial, authored by members of the Statistical Advisory Board of Clinical Oral Implants Research, aims to highlight common statistical pitfalls encountered in submitted manuscripts and provide practical recommendations to enhance the quality of statistical reporting.

Materials And Methods: In this editorial, study design considerations, sample size calculation, appropriate selection of statistical tests, multiplicity issues, handling hierarchical data structures, and best practices for data presentation are discussed.

Ethical Pitfalls in AI-Based Predictive Models in Surgery.

Background: Predictive models in surgery promise to improve clinical care by anticipating complications, guiding decision-making, and supporting personalized treatment strategies. Although their potential to enhance outcomes and efficiency is substantial, their integration into clinical practice also raises profound ethical challenges.

Ethical Framework: These challenges span the entire lifecycle of predictive models from data collection and development to validation and clinical use.

Effects of vegetarian and vegan diets on disease activity, pain, fatigue, and physical function in patients with rheumatoid arthritis: a systematic review and meta-analysis.

Background: This systematic review and meta-analysis aim to assess the effects of vegan and vegetarian diets on disease activity, pain, fatigue, and physical function in people with rheumatoid arthritis.

Methods: We conducted searches on the MEDLINE, EMBASE, CINAHL, and Central electronic databases up to December 2024. Randomized controlled trials that investigated vegan or vegetarian dietary interventions (including lacto-ovo-vegetarian, vegan, or whole-food plant-based diets) in people with rheumatoid arthritis were included, and independent of outcomes measured.

Outcomes following exploratory surgery without subsequent resection in perihilar cholangiocarcinoma: A nationwide analysis.

Introduction: Definitive assessment of resectability in perihilar cholangiocarcinoma (pCCA) often requires surgical exploration. Limited data exist on whether surgical exploration without resection affects the chance of receiving subsequent systemic therapy and survival. This nationwide analysis aims to address this question.

Differences in incidence of post-induction hypotension depending on the time of day: a post-hoc propensity score matched analysis.

Background: Many physiological processes show a diurnal rhythm, including sympathetic and parasympathetic tone, adrenal hormone secretion and blood pressure. Since these physiological rhythms may affect the sensitivity to anaesthesia, we hypothesised that the time of day when anaesthesia induction occurs may affect the incidence of post-induction hypotension.

Methods: This was a post-hoc propensity score matched analysis of prospectively collected blood pressure data of 760 elective non-cardiac surgery patients receiving general anaesthesia.