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Purpose To determine if the developed Know Your Risk (KYR) intervention is similar to conventional genetic counseling; we evaluated participants’ knowledge of cancer genetics, breast cancer risk perception, attitudes about genetic counseling and testing, and satisfaction with genetic counseling. Methods Women ( n = 866) who screened at elevated risk for breast cancer were randomized to the KYR intervention or conventional gene...
Interpreting Magnetic Anomalies in Dike Swarms: Deterministic and Probabilistic ApproachesNARA Subscribed
Magnetic anomaly-derived lineaments, indicative of major dike swarms at shallow crustal levels, are common features associated with igneous provinces due to the contrasting magnetisation of diabase and dolerite compared to crystalline and sedimentary country rocks. Aeromagnetic datasets are useful for tracking the extension of subsurface structures, but the observed magnetic anomalies rarely correspond directly to the exposed...
Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomasNARA Subscribed
Biallelic pathogenic variants in the MBD4 gene have recently been associated with an autosomal recessive cancer predisposition syndrome deemed “ MBD4 -associated neoplasia syndrome (MANS)”. Early reports of individuals with MANS highlight the propensity to develop young onset colorectal polyposis and hyper-mutated acute myeloid leukemia (AML). In the following case series, we present four patients with MANS from three families...
Organic matter respiration stoichiometry in the Arctic Ocean is linked to shifts in plankton community compositionNARA Subscribed
The global rate of ocean deoxygenation may be influenced by the molar ratio of dissolved oxygen to organic carbon consumed during microbial respiration. However, respiration stoichiometry and its environmental controls are not fully understood due to sparse direct measurements and limited global coverage. Here, we measured surface concentrations of particulate chemical oxygen demand, particulate organic carbon, and particulate...
Rationale The impact of cannabis use patterns on pain perception during abstinence remains unclear. Objectives This study examined whether cannabis use frequency and weekly delta-9-tetrahydrocannabinol (THC) exposure are associated with pain perception and circulating cannabinoid levels during biochemically verified brief abstinence. Methods Healthy adults ( N = 75; 29 females, 46 males; ages 21–55) reporting past-month cannab...
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...
An isolated lower jaw of a morphologically distinct actinopterygian fish from the Early Jurassic Posidonienschiefer Formation of Holzmaden (SW Germany) is identified as belonging to the pachycormid subfamily Hypsocorminae based on the presence of an anteriorly inflated coronoid plate, an enlarged coronoid tusk, and granular dermal bone ornamentation. Previously, the first occurrence of hypsocormine pachycormids was from the Mi...
Connectivity is a multifaceted concept that has important implications for the management and conservation of marine and freshwater fishes. We developed a conceptual framework that encompasses multiple, interrelated categories of connectedness, including landscape (e.g., structural, functional) connectivity and ecological (e.g., trophic, genetic, demographic) connectivity, that together shape the flow of organisms, energy and...
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...