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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...
Introduction Dexmedetomidine has been used to treat toxicologic conditions, but high-quality data on its use for this indication in the emergency department setting are lacking. We sought to characterize the use of dexmedetomidine in this context. Methods We conducted a dual-center retrospective cohort study of patients treated with dexmedetomidine in two academic emergency departments. We included patients who received dexmed...
A Comparison of the Physical Characteristics of Adolescent Female, Academy Cricket PlayersNARA Subscribed
Purpose Women’s cricket has grown in popularity over the last decade, however despite this there is a paucity of literature examining the female version of the game. Furthermore, no research has examined the physical attributes of female cricketers, particularly adolescents. Therefore, the purpose of this research was to develop a physical profile for u/11, u/13, u15, and u/18 female adolescent cricket players. Methods One hun...
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...
Modelling water use in Nepal’s highlands: a multidisciplinary and probabilistic frameworkNARA Subscribed
Mountain communities in Nepal are increasingly exposed to climate-induced shifts in water availability, driven by glacial retreat, altered precipitation/snowmelt regimes, and declining groundwater sources. This study presents an integrated framework combining hydrological source analysis with socio-demographic survey data to evaluate seasonal water contributions and communitylevel water use patterns in the Upper Marsyangdi cat...
A ketogenic diet improves memory in females in the APOE4 mouse model of Alzheimer’s diseaseNARA Subscribed
The ε4 allele of apolipoprotein E (APOE4) is the strongest genetic risk factor for Alzheimer’s disease (AD), increasing AD risk about fourfold in ~ 34 million American and ~ 75 million European females. APOE4 carriers exhibit cerebral metabolic deficits decades before clinical onset. We previously demonstrated that ketogenic diet (KD), a low-carbohydrate, high-fat diet promoting ketone metabolism, confers cognitive benefits in...
Motivation Here, we make available a second version of the BioTIME database, which compiles records of abundance estimates for species in sample events of ecological assemblages through time. The updated version expands version 1.0 of the database by doubling the number of studies and includes substantial additional curation to the taxonomic accuracy of the records, as well as the metadata. Moreover, we now provide an R packag...
SNAPSHOT USA 2019–2023: The First Five Years of Data From a Coordinated Camera Trap Survey of the United StatesNARA Subscribed
Motivation SNAPSHOT USA is an annual, multicontributor 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 specie...
Exploring the Nature of Arhopalus ferus (Coleoptera: Cerambycidae: Spondylidinae) Pheromone AttractionNARA Subscribed
Cerambycid species of the Spondylidinae subfamily are distributed worldwide and are known for being prolific invaders that infest conifers. In New Zealand, Arhopalus ferus (Mulsant), the burnt pine longhorn beetle, is well-established and requires monitoring at high-risk sites such as ports, airports, and sawmills as part of the requirements to meet pine log export standards set by the New Zealand Ministry of Primary Industrie...
Zebrafish as a model for cardiac disease; Cryo-EM structure of native cardiac thin filaments from Danio RerioNARA Subscribed
Actin, tropomyosin and troponin, the proteins that comprise the contractile apparatus of the cardiac thin filament, are highly conserved across species. We have used cryo-EM to study the three-dimensional structure of the zebrafish cardiac thin and actin filaments. With 70% of human genes having an obvious zebrafish orthologue, and conservation of 85% of disease-causing genes, zebrafish are a good animal model for the study of...
The movement ecology of fishesNARA Subscribed
Movement of fishes in the aquatic realm is fundamental to their ecology and survival. Movement can be driven by a variety of biological, physiological and environmental factors occurring across all spatial and temporal scales. The intrinsic capacity of movement to impact fish individually ( e.g. , foraging) with potential knock‐on effects throughout the ecosystem ( e.g. , food web dynamics) has garnered considerable interest i...
SNAPSHOT USA 2020: A second coordinated national camera trap survey of the United States during the COVID ‐19 pandemicNARA Subscribed
Managing wildlife populations in the face of global change requires regular data on the abundance and distribution of wild animals, but acquiring these over appropriate spatial scales in a sustainable way has proven challenging. Here we present the data from Snapshot USA 2020, a second annual national mammal survey of the USA. This project involved 152 scientists setting camera traps in a standardized protocol at 1485 location...