Dementia and competency to stand trial in the United States: A case law review.

Objective: Competency to stand trial (CST) is foundational to the U.S. criminal legal system.

Adolescents' and Adults' Perceptions of Sensory-Based Interventions: A Qualitative Analysis.

Importance: Adolescents and adults report that their sensory integration and processing differences affect their occupational performance and quality of life, thus requiring effective sensory-focused interventions. Researchers have yet to investigate this population's experience of occupational therapy interventions designed to remediate these challenges.

Objective: To explore the perceived experience of adolescents and adults with respect to (1) response to intervention, (2) strategies offered to manage sensory differences, and (3) need for services on completion of an intervention.

Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings.

RAP1B is a RAS-superfamily small GTP-binding protein involved in numerous cell processes. Pathogenic gain-of-function variants in this gene have been associated with RAP1B-related syndromic thrombocytopenia, an ultrarare disorder characterized by hematologic abnormalities, neurodevelopmental delays, growth delay, and congenital birth defects including cardiovascular, genitourinary, neurologic, and skeletal systems. We report a 23-year-old male with a novel, de novo RAP1B gain-of-function variant identified on genome sequencing.

MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.

Hardikar syndrome (HS) is a MED12-related ultra-rare multiple congenital malformation syndrome known to affect the gastrointestinal, cardiac, and genitourinary systems among other features including cleft lip/palate and pigmentary retinopathy. Only 10 patients affected with HS have been previously described in literature, of which seven were molecularly confirmed. We report a 20-year-old and a 13-month-old patient with HS diagnosed by exome sequencing bringing the total number of clinically diagnosed cases to 12 and MED12 associated to 9.

Nuclear hormone receptor NHR-49 acts in parallel with HIF-1 to promote hypoxia adaptation in .

The response to insufficient oxygen (hypoxia) is orchestrated by the conserved hypoxia-inducible factor (HIF). However, HIF-independent hypoxia response pathways exist that act in parallel with HIF to mediate the physiological hypoxia response. Here, we describe a hypoxia response pathway controlled by nuclear hormone receptor NHR-49, an orthologue of mammalian peroxisome proliferator-activated receptor alpha (PPARα).

Financing a sustainable ocean economy.

The ocean, which regulates climate and supports vital ecosystem services, is crucial to our Earth system and livelihoods. Yet, it is threatened by anthropogenic pressures and climate change. A healthy ocean that supports a sustainable ocean economy requires adequate financing vehicles that generate, invest, align, and account for financial capital to achieve sustained ocean health and governance.

Health Disparities, Systemic Racism, and Failures of Cultural Competence.

Health disparities are primarily driven by structural inequality including systemic racism. Medical educators, led by the AAMC, have tended to minimize these core drivers of health disparities. Instead, it has adopted a culture-based agenda through the framework of cultural competence to address disparities despite a paucity of supporting data.

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Cobalamin J disease (CblJ) is an ultra-rare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined methylmalonic acidemia and homocystinuria. It is caused by pathogenic variants in ABCD4, which encodes an ATP-binding cassette (ABC) transporter that affects the lysosomal release of cobalamin (Cbl) into the cytoplasm. Only six cases of CblJ have been reported in the literature.

Childhood maltreatment, serotonin transporter gene, and risk for callous and unemotional traits: A prospective investigation.

Previous studies have reported associations between the serotonin transporter 5-HTTLPR genotype and antisocial and aggressive traits and between child maltreatment and antisocial traits. However, few studies have examined whether 5-HTTLPR moderates the influence of childhood maltreatment on callous and unemotional traits, a hallmark of psychopathy. Using a prospective cohort design, children with documented cases of maltreatment and matched controls were followed up and interviewed in adulthood.

Microbial communities in the tropical air ecosystem follow a precise diel cycle.

The atmosphere is vastly underexplored as a habitable ecosystem for microbial organisms. In this study, we investigated 795 time-resolved metagenomes from tropical air, generating 2.27 terabases of data.

A Novel Mechanism To Prevent HS Toxicity in .

Hydrogen sulfide (HS) is an endogenously produced signaling molecule that can be cytoprotective, especially in conditions of ischemia/reperfusion injury. However, HS is also toxic, and unregulated accumulation or exposure to environmental HS can be lethal. In , the hypoxia inducible factor () coordinates the initial transcriptional response to HS, and is essential to survive exposure to low concentrations of HS.

Fasting prevents hypoxia-induced defects of proteostasis in C. elegans.

Low oxygen conditions (hypoxia) can impair essential physiological processes and cause cellular damage and death. We have shown that specific hypoxic conditions disrupt protein homeostasis in C. elegans, leading to protein aggregation and proteotoxicity.