Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.

Cost-effectiveness analysis of additional local prostate radio therapy in metastatic prostate cancer from a medicare perspective.

Background: Metastatic prostate cancer remains a therapeutic challenge. Based on data of the STAMPEDE trial, patients with a low metastatic burden showed prolonged failure-free and overall survival when treated with prostate radio therapy (RT) in addition to standard of care (SOC). The objective of this study was to determine the cost-effectiveness of additional prostate RT compared to SOC alone for following subgroups: non-regional lymph node (NRLN) metastases, up to three bone metastases and four or more bone metastases.

Analysis of water and aerosol samples of tunnel car washes operated with recycled water for Legionella with culture, qPCR and viability-qPCR.

Due to the generation of large quantities of aerosol and the recycling of water, tunnel car washes are discussed as potential sources of legionellosis. Additionally, occupational health and safety aspects are important for tunnel car washes as they are often workplaces. A total of 17 different tunnel car washes were investigated for the presence of Legionella.

Anatomic and Physiologic Repair of Congenitally Corrected Transposition of the Great Arteries.

Background: Congenitally corrected transposition of the great arteries (ccTGA) is a rare cardiac anomaly. The management strategy historically consisted of physiologic repair, leaving the morphologic right ventricle to support the systemic circulation. More recently, anatomic repair has been implemented to bring the left ventricle into the systemic circulation.

How the pandemic affected psychological research.

In the wake of the COVID-19 pandemic, many journals swiftly changed their editorial policies and peer-review processes to accelerate the provision of knowledge about COVID-related issues to a wide audience. These changes may have favoured speed at the cost of accuracy and methodological rigour. In this study, we compare 100 COVID-related articles published in four major psychological journals between 2020 and 2022 with 100 non-COVID articles from the same journal issues and 100 pre-COVID articles published between 2017 and 2019.

Evaluation of a direct lymphocyte proliferation test for the diagnosis of canine food allergies with delayed reactions after oral food challenge.

Background: In humans, food allergies (FAs) are divided into those with immunoglobulin (Ig) E-mediated (immediate FA), cell-mediated (delayed FA) or both mechanisms (mixed FA). In dogs, lymphocyte stimulation tests have the highest concordance with oral food challenges (OFCs).

Objectives: To report the evaluation of a lymphocyte proliferation test (LPT) in dogs with FA and delayed reactions (≥6 h) after OFC.

Increased kinematic changes in ascending compared with descending biplanar cut in open wedge high tibial osteotomy-a multibody simulation.

Background: The ascending or descending extended biplanar tibial cut in open wedge high tibial osteotomy (owHTO) not only changes the lower limb anatomy in the coronal plane but also leads to different three-dimensional (3D) changes in the patellofemoral joint. This study aimed to perform a comprehensive analysis of the dynamic biomechanical changes in the knee joint using a multibody simulation model.

Methods: Thirteen 3D computer models derived from lower limb computer tomography scans were used for owHTO.

Treatment approaches to horses with acute diarrhea admitted to referral institutions: A multicenter retrospective study.

Background: This study aimed to describe and compare therapeutic approaches for horses with acute diarrhea in different geographic regions worldwide.

Methods: Clinical information was retrospectively collected from diarrheic horses presented to participating institutions between 2016 and 2020, including fluid therapy on admission, antimicrobial drugs, probiotics, anti-endotoxic medications, anti-inflammatory drugs, gastroprotectants, digital cryotherapy, and toxin-binding agents. Seasonal and geographic differences were investigated.

Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis.

Melanoma arising from pigment-producing melanocytes is the deadliest form of skin cancer. Extensive ultraviolet light exposure is a major cause of melanoma and individuals with low levels of melanin are at particular risk. Humans carrying gain-of-function polymorphisms in the melanosomal/endolysosomal two-pore cation channel TPC2 present with hypopigmentation, blond hair, and albinism.

What Do We Know About the Validity and Reliability of Mindfulness Self-Report Measures in Persons with Dementia? A Critical Narrative Review.

Objectives: Mindfulness-based interventions (MBIs) for persons with dementia (PwD) have yielded mixed results, possibly attributable to the fact that little is known about the validity and reliability of trait mindfulness self-report measures in PwD. This narrative review sought to identify studies involving self-reported trait mindfulness and other clinical measures that may hold information on the convergent validity and reliability of these measures in PwD.

Methods: Scientific databases were searched for studies involving PwD and mindfulness assessments.

Impact of Antipsychotic Medications on Weight Gain and Eating Disorder-Related Psychopathology in Adult Inpatients with Anorexia Nervosa.

Introduction: The impact of antipsychotic use on weight gain and eating disorder-related psychopathology in adult inpatients with anorexia nervosa (AN) is unclear.

Methods: Consecutively hospitalized adults with AN were retrospectively analyzed. Co-primary outcomes were body mass index (BMI) and weekly weight change.

Irisin reduces senile osteoporosis by inducing osteocyte mitophagy through Ampk activation.

Irisin, an exercise-induced myokine, is known to be able to regulate bone metabolism. However, the underlying mechanisms regarding the effects of irisin on senile osteoporosis have not been fully elucidated. Here, we demonstrated that irisin can inhibit bone mass loss and bone microarchitecture alteration in senile osteoporosis mouse model.

Intrinsically disordered RNA-binding motifs cooperate to catalyze RNA folding and drive phase separation.

RNA-binding proteins are essential for gene regulation and the spatial organization of cells. Here, we report that the yeast ribosome biogenesis factor Loc1p is an intrinsically disordered RNA-binding protein with eight repeating positively charged, unstructured nucleic acid binding (PUN) motifs. While a single of these previously undefined motifs stabilizes folded RNAs, multiple copies strongly cooperate to catalyze RNA folding.

Probe set selection for targeted spatial transcriptomics.

Targeted spatial transcriptomic methods capture the topology of cell types and states in tissues at single-cell and subcellular resolution by measuring the expression of a predefined set of genes. The selection of an optimal set of probed genes is crucial for capturing the spatial signals present in a tissue. This requires selecting the most informative, yet minimal, set of genes to profile (gene set selection) for which it is possible to build probes (probe design).

Comparative neurofilament light chain trajectories in CSF and plasma in autosomal dominant Alzheimer's disease.

Disease-modifying therapies for Alzheimer's disease (AD) are likely to be most beneficial when initiated in the presymptomatic phase. To track the benefit of such interventions, fluid biomarkers are of great importance, with neurofilament light chain protein (NfL) showing promise for monitoring neurodegeneration and predicting cognitive outcomes. Here, we update and complement previous findings from the Dominantly Inherited Alzheimer Network Observational Study by using matched cross-sectional and longitudinal cerebrospinal fluid (CSF) and plasma samples from 567 individuals, allowing timely comparative analyses of CSF and blood trajectories across the entire disease spectrum.

Safety and Efficacy of Ianalumab in Patients With Sjögren's Disease: 52-Week Results From a Randomized, Placebo-Controlled, Phase 2b Dose-Ranging Study.

Objective: The objective of this study was to report 52-week safety and efficacy of ianalumab from phase 2b dose-finding study in patients with Sjögren's disease (SjD).

Methods: Patients randomly received (1:1:1:1) ianalumab (5, 50, or 300 mg) or placebo subcutaneously every 4 weeks until week 24 (treatment period [TP]1). At week 24, patients on 300 mg were rerandomized to continue 300 mg or receive placebo until week 52 (TP2), patients on placebo were switched to ianalumab 150 mg, and patients on 5 and 50 mg directly entered posttreatment safety follow-up.