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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedNARA Subscribed
Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5′ splice site variant, c.825+4_825 + 5delAGinsTT (NM_003676.4). We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect...
Expert consensus on passive heating interventions to promote skeletal muscle strength and mass: a delphi studyNARA Subscribed
Purpose Passive heating has emerged as a potential non‑exercise method to support muscle strength and mass, but its application is limited by inconsistent protocols and unclear dosage and safety guidelines. This study used a Delphi methodology to establish expert consensus on key parameters for passive heating interventions targeting neuromuscular and muscle morphology outcomes. Methods An international panel of academic exper...
Canada's Forests Are Shifting From a Recovery‐Driven Carbon Sink to a Disturbance‐Driven Carbon SourceNARA Subscribed
Canada's terrestrial ecosystems are critical to the global carbon cycle and are responding to unprecedented climate change and wildfire disturbance. However, our understanding of Canada's historical (~1920—present) carbon cycle is incomplete. There are also no published physically coherent (i.e., those that respect conservation laws) wall‐to‐wall estimates of all major carbon pools and fluxes for Canada. Existing assessments v...
Interpretable deep learning reveals spatiotemporal MRI features of brain aging that align with neurodegenerationNARA Subscribed
Cortical thinning and atrophy are hallmarks of brain aging that have been characterized using magnetic resonance imaging (MRI). Brain aging involves many neuroanatomic features whose effects on brain structure remain unexplored. To address this challenge, we trained interpretable deep neural networks (DNNs) to estimate brain age (BA) from T 1 -weighted ( T 1 w) MRI. By identifying MRI features unapparent to humans, DNNs can fi...
SNAPSHOT USA 2024: Year 6 of the Coordinated National Camera Trap Survey of the United StatesNARA Subscribed
Motivation SNAPSHOT USA is an annual, multi‐contributor camera trap survey of mammals across the United States. The growing SNAPSHOT USA dataset is intended for tracking the spatial and temporal responses of mammal populations to changes in land use, land cover and climate. These data will be useful for exploring the drivers of spatial and temporal changes in relative abundance and distribution, as well as the impacts of speci...
Alzheimer’s disease (AD) disproportionately affects women and carriers of the apolipoprotein E ε4 allele (APOE4), yet little is known about how sex and APOE interact to influence white matter (WM) integrity during disease progression. We integrated diffusion MRI and matched blood transcriptomic data to investigate these interactions and their underlying biological mechanisms. WM microstructure was quantified using diffusion te...
Marine megafauna species are affected by a wide range of anthropogenic threats. To evaluate the risk of such threats, species’ vulnerability to each threat must first be determined. We build on the existing threats classification scheme and ranking system of the International Union for Conservation of Nature (IUCN) Red List of Threatened Species by assessing the vulnerability of 256 marine megafauna species to 23 at‐sea threat...
OceanHackWeek: An Inclusive, Collaborative Approach to Developing Oceanography Data Science SkillsOA Marine
Over the last two decades, there has been an explosion of oceanographic data from a broad array of ocean observing platforms, as well as dramatic improvements in the ability of ocean models to resolve processes across multiple temporal and spatial scales. Ocean researchers’ ability to leverage computing tools and resources are key to effectively understanding and monitoring our ocean, the marine ecosystems it supports, and the...
When and why to give shorebirds a head startNARA Subscribed
Headstarting is a translocation technique involving the hatching or rearing of wild eggs or young in captivity and the release of those individuals back to the wild at or before independence. It has been trialed as a conservation intervention for shorebirds over recent decades to improve the population trend of target populations by increasing survival during the vulnerable early‐life stages. We used a population modeling appr...
Comparison of Mineral Levels in Blood and Hair Samples of Healthy Adults: Evaluating the Clinical Utility of Hair Mineral AnalysisNARA Subscribed
Minerals play vital roles in human physiology and immunity. Their tightly regulated levels in the human body can be easily measured in blood, but that only provides a snapshot of the mineral status at the time of collection. In contrast, human hair accumulates minerals over time and is less invasive to collect and store. This pilot study compared mineral levels in blood and scalp hair of generally healthy adults to determine w...
Purpose Isolation of primary human hepatocytes (PHH) from liver specimens typically relies on the two-step perfusion method, which requires large samples, substantial resources, specialised expertise and suitable vessels for cannulation. Although non-perfusion methods exist, they yield low numbers of hepatocytes and inadequately assess hepatocyte purity. We compared and optimised these methods to develop an improved technique...
The ocean region off the Amazon shelf including the shelf break presents a hotspot for internal tide (IT) generation, yet its impact on phytoplankton distribution remains poorly understood. While previous studies have extensively examined the physical characteristics and dynamics of ITs, their biological implications – particularly in nutrient-limited environments – remain underexplored. To address this question, we analyzed a...
Implementation of Cognitive (Neuropsychological) Interventions for Older Adults in Clinical or Community Settings: A Scoping ReviewNARA Subscribed
Despite compelling evidence that cognitive interventions for older adults improve cognition, mood, and everyday function, few are implemented in clinical or community practice. This scoping review aims to understand the implementation frameworks and methods used and their contribution to implementation success of cognitive interventions for older adults. We followed the Preferred Reporting Items for Systematic Reviews and Meta...
Bar-Built Estuary Breach Detection with Remote Sensing: an Automated Tool to Inform Management PracticesNARA Subscribed
Bar-built estuaries (BBEs) are dynamic habitats that are subject to a number of natural factors (precipitation, tidal influence, sediment transport, etc.) and anthropogenic factors (run-off, managed breaches, etc.) that influence their environmental state. While informed management requires an understanding of these factors and their seasonal patterns, documenting estuary conditions is challenging due to a limited capacity for...