2023 Annual Report of the National Poison Data System® (NPDS) from America's Poison Centers®: 41st Annual Report.

Introduction: This is the 41 Annual Report of America's Poison Centers® National Poison Data System®. As of 1 January, 2023, all 55 of the nation's poison centers uploaded case data automatically to NPDS.

Methods: We analyzed the case data, tabulating specific indices from the NPDS®.

Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.

There is increasing evidence of the clinical utility of genetic and genomic testing (GT); however, factors influencing personal utility of GT, especially in diverse, multilingual populations, remain unclear. We explored these factors in a diverse cohort of parents/guardians (participants) whose children received clinical GT through the NYCKidSeq program. A total of 847 participants completed surveys at baseline, post-results disclosure, and 6 months (6m) post-results.

2022 Annual Report of the National Poison Data System (NPDS) from America's Poison Centers: 40th Annual Report.

Introduction: This is the 40 Annual Report of America's Poison Centers National Poison Data System (NPDS). As of 1 January, 2022, all 55 of the nation's poison centers (PCs) uploaded case data automatically to NPDS. The upload interval was 4.

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.

Digital solutions are needed to support rapid increases in the application of genetic/genomic tests (GTs) in diverse clinical settings and patient populations. We developed GUÍA, a bilingual digital application that facilitates disclosure of GT results. The NYCKidSeq randomized controlled trial enrolled diverse children with neurologic, cardiac, and immunologic conditions who underwent GTs.

The effect of experimental pollinator decline on pollinator-mediated selection on floral traits.

Human-mediated environmental change, by reducing mean fitness, is hypothesized to strengthen selection on traits that mediate interactions among species. For example, human-mediated declines in pollinator populations are hypothesized to reduce mean seed production by increasing the magnitude of pollen limitation and thus strengthen pollinator-mediated selection on floral traits that increase pollinator attraction or pollen transfer efficiency. To test this hypothesis, we measured two female fitness components and six floral traits of plants exposed to supplemental hand-pollination, ambient open-pollination, or reduced open-pollination treatments.

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.

Background: Digital solutions are needed to support rapid increases in the application of genetic and genomic tests (GT) in diverse clinical settings and patient populations. We developed GUÍA, a bi-lingual web-based platform that facilitates disclosure of GT results. The NYCKidSeq randomized controlled trial evaluated GUÍA's impact on understanding of GT results.

Monitoring trends in lacrimator exposures using the National Poison Data System: 2000-2021.

Context: Lacrimators are used by individuals for personal defense and by police for crowd control during periods of civil unrest. Increased public awareness about their use has raised concerns about their application and safety.

Objective: To characterize patterns of lacrimator exposures in the United States, we describe temporal trends of calls to poison centers by demographics, substances, medical outcomes, exposure sites, and scenarios.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Purpose: Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions.

Methods: Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Purpose: Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions.

Methods: Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing.

Harmful Algal Bloom Exposures Self-reported to Poison Centers in the United States, May-October 2019.

The National Poison Data System (NPDS) comprises self-reported information from people who call US poison center hotlines. NPDS data have proven to be important in identifying emerging public health threats. We used NPDS to examine records of people who had self-reported exposure to harmful algal blooms (HABs).

2021 Annual Report of the National Poison Data System (NPDS) from America's Poison Centers: 39th Annual Report.

Abstractintroduction: This is the 39 Annual Report of America's Poison Centers' National Poison Data System (NPDS). As of 1 January, 2021, all 55 of the nation's poison centers (PCs) uploaded case data automatically to NPDS. The upload interval was 4.

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS) and/or targeted gene panels (TGPs) were considered to be causative for the proband's phenotype, and two of apparent parental mosaicism. Variants were identified in the following genes: PHACTR1, SCN8A, KCNT1, CDKL5, NEXMIF, CUX1, TSC2, GABRB2, and SMARCB1.

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders termed DEAF1-associated neurodevelopmental disorders (DAND). RNA-sequencing using hippocampal RNA from mice with conditional deletion of Deaf1 in the central nervous system indicate that loss of Deaf1 activity results in the altered expression of genes involved in neuronal function, dendritic spine maintenance, development, and activity, with reduced dendritic spines in hippocampal regions. Since DEAF1 is not a dosage-sensitive gene, we assessed the dominant negative activity of previously identified de novo variants and a heritable recessive DEAF1 variant on selected DEAF1-regulated genes in 2 different cell models.

Choosing optimal trigger points for ex situ, in toto conservation of single population threatened species.

Many endangered species exist in only a single population, and almost all species that go extinct will do so from their last remaining population. Understanding how to best conserve these single population threatened species (SPTS) is therefore a distinct and important task for threatened species conservation science. As a last resort, managers of SPTS may consider taking the entire population into captivity-ex situ, in toto conservation.

GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.

Purpose: Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient's phenotypic features can be documented using the Human Phenotype Ontology (HPO), generating terms used to prioritize genes potentially causing the patient's disease. We have developed GenomeDiver to provide a user interface for clinicians that allows more effective collaboration with the clinical diagnostic laboratory, with the goal of improving the success of the diagnostic process.

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.

Background: Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented populations. The latter is a particularly pernicious problem due to the historical lack of inclusion of racially and ethnically diverse populations in genomic research and genomic medicine. A further challenge is the rapidly changing landscape of genetic tests and considerations of cost, interpretation, and diagnostic yield for emerging modalities like whole-genome sequencing.

Prospective Comparison of Patient-selected Operative Versus Nonoperative Treatment of Scheuermann Kyphosis.

Background: Scheuermann kyphosis (SK) can be managed operatively or nonoperatively. Few studies compare the effect of operative versus nonoperative treatment on patient health-related quality of life. We compare 2-year radiographic and the Scoliosis Research Society-22 questionnaire (SRS-22) results of patients who self-selected either conservative or surgical treatment.

Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors.

The size and reach of the genetic counseling profession have expanded on a global scale since the 1970s. Despite this growth, the profession of genetic counseling has remained demographically homogenous. Promoting a culture of inclusivity that supports visible and invisible diversity and leveraging that culture not only expands perspectives represented in the field, but also helps foster equity in genetic services.

Study of Caregivers Regarding Pediatric Poisoning.

The overall objective was to characterize action by caregivers when a potential poison exposure occurs and identify barriers to poison control center (PCC) utilization. A prospective survey of caregivers of pediatric patients who presented to an emergency department for a potential poison exposure was completed by each study participant. A total of 371 surveys were completed between August 2016 and August 2017.

Delay to Surgery Greater Than 6 Months Leads to Substantial Deformity Progression and Increased Intervention in Immature Adolescent Idiopathic Scoliosis (AIS) Patients: A Retrospective Cohort Study.

Design: A retrospective, multi-institution series of adolescent idiopathic scoliosis (AIS) patients whose date of surgery exceeded six months from date of surgical recommendation were identified. A case-matched comparison of surgical outcomes of skeletally immature patients who delayed surgery versus a cohort of nondelayed patients.

Objectives: We sought to identify 1) whether patients at risk for significant curve progression when delaying surgery could be identified with available clinical and radiographic data and 2) whether patients who delay surgery have longer fusions/more complex procedures.