Marine foundation species are increasingly impacted by anthropogenic stressors, driving a loss of diversity within these critical habitats. Prior studies suggest that species diversity within mussel beds has declined precipitously in southern California, USA, but it is unclear whether a similar loss has occurred farther north. Here, we resurvey a mussel bed community in northern California first sampled in 1941 to evaluate changes in diversity after 78 years.
View Article and Find Full Text PDFLarge prospective clinical trials are underway or planned that examine the clinical utility and cost effectiveness of genome-based newborn screening (gNBS). One gNBS platform, BeginNGS, currently screens 53,575 variants for 412 severe childhood genetic diseases with 1,603 efficacious therapies. Retrospective evaluation of BeginNGS in 618,290 subjects suggests adequate sensitivity and positive predictive value (PPV) to proceed to prospective studies.
View Article and Find Full Text PDFGenome-sequence-based newborn screening (gNBS) has substantial potential to improve outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major impediment to gNBS is imprecision due to variants classified as pathogenic (P) or likely pathogenic (LP) that are not SCGD causal. gNBS with 53,855 P/LP variants, 342 genes, 412 SCGDs, and 1,603 therapies was positive in 74% of UK Biobank (UKB470K) adults, suggesting 97% false positives.
View Article and Find Full Text PDFBackground: The incidence of severe adverse events in children with SARS-CoV-2 undergoing anaesthesia has not been well established. We examined the relationship between SARS-CoV-2 infection and severe perioperative adverse events in children.
Methods: This multicentre (21 North American institutions), retrospective cohort study included children <18 years old, with American Society of Anesthesiologists physical status (ASA PS) of 1-4 and non-severe SARS-CoV-2, who underwent general anaesthesia between April 1, 2020, and March 31, 2021.
Background: Cardiovascular disease is a leading cause of death worldwide. Rates of cardiovascular disease vary both across the lifespan and between sexes. While multiple factors, including adverse life experiences, impact the development and progression of cardiovascular disease, the potential interactions of biological sex and stress history on the aged heart are unknown.
View Article and Find Full Text PDFFor decades, cognitive scientists have debated what kind of representation might characterize human concepts. Whatever the format of the representation, it must allow for the computation of varied properties, including similarities, features, categories, definitions, and relations. It must also support the development of theories, ad hoc categories, and knowledge of procedures.
View Article and Find Full Text PDFLanguage understanding and mathematics understanding are two fundamental forms of human thinking. Prior research has largely focused on the question of how language shapes mathematical thinking. The current study considers the converse question.
View Article and Find Full Text PDFThe stability of the genome relies on Phosphatidyl Inositol 3-Kinase-related Kinases (PIKKs) that sense DNA damage and trigger elaborate downstream signaling responses. In , the Tel1 kinase (ortholog of human ATM) is activated at DNA double strand breaks (DSBs) and short telomeres. Despite the well-established roles of Tel1 in the control of telomere maintenance, suppression of chromosomal rearrangements, activation of cell cycle checkpoints, and repair of DSBs, the substrates through which Tel1 controls these processes remain incompletely understood.
View Article and Find Full Text PDFAn inverse correlation between stature and risk of coronary artery disease (CAD) has been observed in several epidemiologic studies, and recent Mendelian randomization (MR) experiments have suggested causal association. However, the extent to which the effect estimated by MR can be explained by cardiovascular, anthropometric, lung function, and lifestyle-related risk factors is unclear, with a recent report suggesting that lung function traits could fully explain the height-CAD effect. To clarify this relationship, we utilized a well-powered set of genetic instruments for human stature, comprising >1,800 genetic variants for height and CAD.
View Article and Find Full Text PDFThe diversity of nemerteans along the Pacific coast of the United States is regarded as well characterized, but there remain many cryptic, undescribed, and "orphan" species (those known only in their larval form). Recent sampling of nemerteans in Oregon and Washington has begun to fill in these taxonomic gaps, but nemertean diversity in California has received relatively little attention over the past 60 years. During the summers of 2019 and 2020, nemertean specimens were collected from 20 locations in the Bodega Bay region of northern California, USA, including rocky intertidal shores, sandy beaches, mudflats, and other habitats.
View Article and Find Full Text PDFThe Mec1/ATR kinase is crucial for genome stability, yet the mechanism by which it prevents gross chromosomal rearrangements (GCRs) remains unknown. Here we find that in cells with deficient Mec1 signaling, GCRs accumulate due to the deregulation of multiple steps in homologous recombination (HR). Mec1 primarily suppresses GCRs through its role in activating the canonical checkpoint kinase Rad53, which ensures the proper control of DNA end resection.
View Article and Find Full Text PDFCohesin plays a crucial role in the organization of topologically-associated domains (TADs), which influence gene expression and DNA replication timing. Whether epigenetic regulators may affect TADs via cohesin to mediate DNA replication remains elusive. Here, we discover that the histone demethylase PHF2 associates with RAD21, a core subunit of cohesin, to regulate DNA replication in mouse neural stem cells (NSC).
View Article and Find Full Text PDFBackground: Cardiovascular disease is a leading cause of death worldwide. Rates of cardiovascular disease vary both across the lifespan and between sexes. While multiple factors, including adverse life experiences, impact the development and progression of cardiovascular disease, the potential interactions of biological sex and stress history on the aged heart are unknown.
View Article and Find Full Text PDFGiven a rich environment, how do we decide on what information to use? A view of a single entity (e.g., a group of birds) affords many distinct interpretations, including their number, average size, and spatial extent.
View Article and Find Full Text PDFExtracorporeal membrane oxygenation (ECMO) is a form of temporary cardiopulmonary bypass for patients with acute respiratory or cardiac failure refractory to conventional therapy. Its usage has become increasingly widespread and while reported survival after ECMO has increased in the past 25 years, the incidence of neurological injury has not declined, leading to the pressing question of how to improve time-to-detection and diagnosis of neurological injury. The neurological status of patients on ECMO is clinically difficult to evaluate due to multiple factors including illness, sedation, and pharmacological paralysis.
View Article and Find Full Text PDFThe Mec1/ATR kinase is crucial for genome stability, yet the mechanism by which it prevents gross chromosomal rearrangements (GCRs) remains unknown. Here we find that in cells with deficient Mec1 signaling, GCRs accumulate due to the deregulation of multiple steps in homologous recombination (HR). Mec1 primarily suppresses GCRs through its role in activating the canonical checkpoint kinase Rad53, which ensures the proper control of DNA end resection.
View Article and Find Full Text PDFHumans are both the scientists who discover psychological laws and the thinkers who behave according to those laws. Oftentimes, when our natural behavior is in accord with those laws, this dual role serves us well: our intuitions about our own behavior can serve to inform our discovery of new laws. But, in cases where the laws that we discover through science do not agree with the intuitions and biases we carry into the lab, we may find it harder to believe in and adopt those laws.
View Article and Find Full Text PDFStudy Objective: To determine the association between the presence of upper respiratory tract viral infection symptoms and occurrence of perioperative respiratory adverse events (PRAE) in children with positive viral screening, and to analyze the risk of PRAE in children with SARS-CoV-2 compared to non-SARS-CoV-2 infection.
Design: A prospective cohort study.
Setting: A tertiary, freestanding pediatric hospital in Dallas, Texas.
The replication checkpoint is essential for accurate DNA replication and repair, and maintenance of genomic integrity when a cell is challenged with genotoxic stress. Several studies have defined the complement of proteins that change subcellular location in the budding yeast following chemically induced DNA replication stress using methyl methanesulfonate (MMS) or hydroxyurea (HU). How these protein movements are regulated remains largely unexplored.
View Article and Find Full Text PDFAim: To analyze the association between hypothermia and neurologic complications among children who were treated with extracorporeal cardiopulmonary resuscitation (ECPR) using the Extracorporeal Life Support Organization (ELSO) international registry.
Methods: We conducted a retrospective, multicenter, database study utilizing ELSO data for ECPR encounters from January 1, 2011, through December 31, 2019. Exclusion criteria included multiple ECMO runs and lack of variable data.