Prognostic importance of direct assignment of parent-of-origin via long-read genome and epigenome sequencing in retinoblastoma.

Background: Current clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease and the inability to assign this in de novo cases limits prognostication in the majority of affected individuals with retinoblastoma, a hereditary cancer with suspected parent-of-origin effects.

Methods: To directly assign parent-of-origin in retinoblastoma patients, genomic DNA was extracted from blood samples for sequencing using a programmable, targeted single-molecule long-read DNA genomic and epigenomic approach.

Less activity means improved welfare? How pair housing influences pinyon jay () behaviour.

The activity level and specific behaviours exhibited by captive animals are crucial indicators of welfare. Stereotypies, or repetitive behaviours that have no apparent function or goal, are performed by animals experiencing poor conditions in their environment and indicate welfare concerns. Changes in the housing environment in particular may have critical influences on behaviour and welfare.

Evaluation of methods for characterizing the fine particulate matter emissions from aircraft and other diffusion flame combustion aerosol sources.

The U. S. Environmental Protection Agency in collaboration with the U.

Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.

Purpose: Somatic molecular profiling of pediatric brain tumors aids with the diagnosis and treatment of patients with a variety of high- and low-grade central nervous system neoplasms. Here, we report follow-up targeted germline evaluation for patients with possible germline variants following tumor only testing in the initial year in which somatic molecular testing was implemented at a single institution.

Patients And Methods: Somatic testing was completed for all tumors of the central nervous system (CNS) undergoing diagnostic workup at Seattle Children's Hospital during the study period of November 2015 to November 2016.

A multi-institutional pediatric dataset of clinical radiology MRIs by the Children's Brain Tumor Network.

Pediatric brain and spinal cancers remain the leading cause of cancer-related death in children. Advancements in clinical decision-support in pediatric neuro-oncology utilizing the wealth of radiology imaging data collected through standard care, however, has significantly lagged other domains. Such data is ripe for use with predictive analytics such as artificial intelligence (AI) methods, which require large datasets.

Social Influences on Similarity Judgments and Intertemporal Choice.

Discounting models are commonly applied to understand intertemporal choices. Similarity models provide an alternative, attribute-based approach where people compare the similarity of reward amounts and time delays for options and decide based on dissimilarity. Knowledge of other people's similarity judgments may affect an individual's similarity judgments, which can in turn affect subsequent intertemporal choices.

The Plasma Membrane Monoamine Transporter is Highly Expressed in Neuroblastoma and Functions as an mIBG Transporter.

Neuroblastoma (NB) is a pediatric cancer with low survival rates in high-risk patients. I-mIBG has emerged as a promising therapy for high-risk NB and kills tumor cells by radiation. Consequently, I-mIBG tumor uptake and retention are major determinants for its therapeutic efficacy.

Impulsivity as a trait in domestic dogs (Canis familiaris): A systematic review and meta-analysis.

Impulsivity is a critical component of dog () behavior that owners often want to curtail. Though studies of dog impulsivity have examined their inability to wait and to inhibit inappropriate behaviors, it is not clear whether impulsivity is a behavioral trait with consistent characteristics across contexts. For this project, we conducted a systematic review and meta-analysis to investigate whether impulsivity exists as a behavioral trait in domestic dogs.

Biological and behavioral predictors of relative energy intake after acute exercise.

Energy intake in the post-exercise state is highly variable and compensatory eating - i.e., (over-) compensation of the expended energy via increased post-exercise energy intake - occurs in some individuals but not others.

Indigenous peoples and inclusion in clinical and genomic research: Understanding the history and navigating contemporary engagement.

Despite significant improvements in pediatric cancer survival outcomes, there remain glaring disparities in under-represented racial and ethnic groups that warrant mitigation by the scientific and clinical community. To address and work towards eliminating such disparities, the Pacific Pediatric Neuro-Oncology Consortium (PNOC) and Children's Brain Tumor Network (CBTN) established a Diversity, Equity, and Inclusion (DEI) working group in 2020. The DEI working group is dedicated to improving access to care for all pediatric patients with central nervous system (CNS) tumors, broadening diversity within the research community, and providing sustainable data-driven solutions.

Four Decades of Cytochrome P450 2B Research: From Protein Adducts to Protein Structures and Beyond.

This article features selected findings from the senior author and colleagues dating back to 1978 and covering approximately three-fourths of the 60 years since the discovery of cytochrome P450. Considering the vast number of P450 enzymes in this amazing superfamily and their importance for so many fields of science and medicine, including drug design and development, drug therapy, environmental health, and biotechnology, a comprehensive review of even a single topic is daunting. To make a meaningful contribution to the 50th anniversary of , we trace the development of the research in a single P450 laboratory through the eyes of seven individuals with different backgrounds, perspectives, and subsequent career trajectories.

The Evolution of : A Perspective From the Editors.

This article was solicited to commemorate the 50th anniversary of and features perspectives from five former editors spanning the years 1994 to 2020. During that time frame the journal underwent significant changes in manuscript submission and processing as well as multiple generational changes in the composition of the editorial board and associate editors. A constant, however, has been the commitment to be the premier journal for publications of articles in the areas of drug metabolism, absorption, distribution, excretion, and pharmacokinetics.

Particle emissions from mobile sources: Discussion of ultrafine particle emissions and definition.

There is no universally agreed upon definition for ultrafine particles (UFP). Commonly used definitions for UFP are either particle number below 100 nm or total particle number, but without an agreed upon lower cut point. For example, a lower cut point of 3 nm compared to 10 nm could result in a substantially higher count.

The evolution of quantitative sensitivity.

The ability to represent approximate quantities appears to be phylogenetically widespread, but the selective pressures and proximate mechanisms favouring this ability remain unknown. We analysed quantity discrimination data from 672 subjects across 33 bird and mammal species, using a novel Bayesian model that combined phylogenetic regression with a model of number psychophysics and random effect components. This allowed us to combine data from 49 studies and calculate the Weber fraction (a measure of quantity representation precision) for each species.

Socio-ecological correlates of neophobia in corvids.

Behavioral responses to novelty, including fear and subsequent avoidance of novel stimuli, i.e., neophobia, determine how animals interact with their environment.

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Introduction: Analysis of sequence data in high-risk pedigrees is a powerful approach to detect rare predisposition variants.

Methods: Rare, shared candidate predisposition variants were identified from exome sequencing 19 Alzheimer's disease (AD)-affected cousin pairs selected from high-risk pedigrees. Variants were further prioritized by risk association in various external datasets.

Assessment of a regulatory measurement system for the determination of the non-volatile particulate matter emissions from commercial aircraft engines.

The SAE International has published Aerospace Information Report (AIR) 6241 which outlined the design and operation of a standardized measurement system for measuring non-volatile particulate matter (nvPM) mass and number emissions from commercial aircraft engines. Prior to this research, evaluation of this system by various investigators revealed differences in nvPM mass emissions measurement on the order of 15-30% both within a single sampling system and between two systems operating in parallel and measuring nvPM mass emissions from the same source. To investigate this issue, the U.

Bringing human-animal interaction to sport: Potential impacts on athletic performance.

To gain an edge in performance, athletes, coaches, trainers, and sport psychologists worldwide leverage findings from psychological research to develop training and performance strategies. The field of sport psychology draws upon research on stress, anxiety, mindfulness, and team building to develop these strategies. Here, we introduce human-animal interaction as a potential area of research that may apply to athletic performance.

Exercise Shifts Hypothetical Food Choices toward Greater Amounts and More Immediate Consumption.

Although exercise modulates appetite regulation and food intake, it remains poorly understood how exercise impacts decision-making about food. The purpose of the present study was to assess the impact of an acute exercise bout on hypothetical choices related to the amount and timing of food intake. Forty-one healthy participants (22.

Are capuchin monkeys ( spp.) sensitive to lost opportunities? The role of opportunity costs in intertemporal choice.

Principles of economics predict that the costs associated with obtaining rewards can influence choice. When individuals face choices between a smaller, immediate option and a larger, later option, they often experience opportunity costs associated with waiting for delayed rewards because they must forego the opportunity to make other choices. We evaluated how reducing opportunity costs affects delay tolerance in capuchin monkeys.

Dog and owner characteristics predict training success.

Teaching owners how to train their dogs is an important part of maintaining the health and safety of dogs and people. Yet we do not know what behavioral characteristics of dogs and their owners are relevant to dog training or if owner cognitive abilities play a role in training success. The aim of this study is to determine which characteristics of both dogs and owners predict success in completing the American Kennel Club Canine Good Citizen training program.

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.

Purpose: While familial aggregation of colorectal cancer (CRC) is recognized, the majority of the germline predisposition factors remain unidentified, and many high-risk CRC pedigrees remain unexplained by known risk variants. Fanconi Anemia genes have been recognized to be associated with cancer risk. Notably, FANCM (OMIM 609644) variants have been reported to confer risk for CRC and breast cancer.

Genome-wide analysis of high-risk primary brain cancer pedigrees identifies PDXDC1 as a candidate brain cancer predisposition gene.

Background: There is evidence for an inherited contribution to primary brain cancer. Linkage analysis of high-risk brain cancer pedigrees has identified candidate regions of interest in which brain cancer predisposition genes are likely to reside.

Methods: Genome-wide linkage analysis was performed in a unique set of 11 informative, extended, high-risk primary brain cancer pedigrees identified in a population genealogy database, which include from 2 to 6 sampled, related primary brain cancer cases.

Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.

Background: Longevity as a phenotype entails living longer than average and typically includes living without chronic age-related diseases. Recently, several common genetic components to longevity have been identified. This study aims to identify additional genetic variants associated with longevity using unique and powerful analyses of pedigrees with a statistical excess of healthy elderly individuals identified in the Utah Population Database (UPDB).

Impact of Biofuel Blends on Black Carbon Emissions from a Gas Turbine Engine.

Presented here is an overview of non-volatile particulate matter (nvPM) emissions, i.e. "soot" as assessed by TEM analyses of samples collected after the exhaust of a J-85 turbojet fueled with Jet-A as well as with blends of Jet-A and Camelina biofuel.