Background: E-cigarettes are the most commonly used tobacco product among US youth and are regularly used on school grounds. We assessed school staff's awareness of students' e-cigarette use, response by schools, and resources needed to address use, and examined e-cigarettes confiscated by school staff in North Carolina to guide prevention and identify needed resources.
Methods: In May 2019, staff from a random sample of 25 of 451 North Carolina public and charter high schools were invited to complete an online survey and semistructured interview; 12 schools consented to ≥ 1 component (survey, N = 514; interviews, N = 35).
This paper provides insights into how 17 community-based organizations (CBOs) recruited, trained, and retained educators in pregnancy prevention program implementations for underserved adolescents in different areas of the United States. The paper also highlights problems and potential solutions associated with these practices. The study adopted a qualitative descriptive framework.
View Article and Find Full Text PDFDROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA.
View Article and Find Full Text PDFStudy Objectives: Caffeine use is ubiquitous among adolescents and may be harmful to sleep, with downstream implications for health and development. Research has been limited by self-reported and/or aggregated measures of sleep and caffeine collected at a single time point. This study examines bidirectional associations between daily caffeine consumption and electroencephalogram-measured sleep among adolescents and explores whether these relationships depend on timing of caffeine use.
View Article and Find Full Text PDFThe Polycomb group (PcG) gene RNF2 (RING2) encodes a catalytic subunit of the Polycomb repressive complex 1 (PRC1), an evolutionarily conserved machinery that post-translationally modifies chromatin to maintain epigenetic transcriptional repressive states of target genes including Hox genes. Here, we describe two individuals, each with rare de novo missense variants in RNF2. Their phenotypes include intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features.
View Article and Find Full Text PDFThe passage of the Affordable Care Act had a great impact on the landscape of public health programming and clinical preventive care in North Carolina. Large funding measures have supported community-based prevention efforts and led to policy, systems, and environmental changes to support a healthier population.
View Article and Find Full Text PDFChronic sleep deprivation is a common, treatable condition among adolescents. Growing literature supports a myriad consequences that impact overall health, behavior, mood, and academic performance in this vulnerable age group during a time when there are rapid changes in physical development and emotional regulation. This article reviews the epidemiology and health effects of sleep deprivation in adolescents as well as common disorders leading to sleep loss and evidence to support treatment.
View Article and Find Full Text PDFBackground: In August 2013, a naloxone distribution program was implemented in North Carolina (NC). This study evaluated that program by quantifying the association between the program and county-level opioid overdose death (OOD) rates and conducting a cost-benefit analysis.
Methods: One-group pre-post design.
Study Objectives: Patients with alternating hemiplegia of childhood (AHC) experience bouts of hemiplegia and other paroxysmal spells that resolve during sleep. Patients often have multiple comorbidities that could negatively affect sleep, yet sleep quality and sleep pathology in AHC are not well characterized. This study aimed to report sleep data from both polysomnography (PSG) and clinical evaluations in children with AHC.
View Article and Find Full Text PDFMost casualty or personnel decontamination studies have focused on removing contaminants from the skin. However, scalp hair and underlying skin are the most likely areas of contamination following airborne exposure to chemicals. The aim of this study was to investigate the interactions of contaminants with scalp hair and underlying skin using a hybrid in vitro diffusion cell model.
View Article and Find Full Text PDFInterferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms.
View Article and Find Full Text PDFIn North Carolina, our public health infrastructure consists of a state health department and 85 local health departments representing all 100 counties. The state health department, local health departments, health systems, and clinical providers work literally and figuratively as a team to improve the health of our citizens. In this article, we provide examples of the critical role of public health practitioners as part of the broader team addressing health, specifically in the areas of chronic disease, communicable disease, oral health, environmental health, and maternal and child health.
View Article and Find Full Text PDFLike many states, North Carolina faces an opioid crisis that has rapidly intensified in recent years. Addressing this epidemic requires interventions such as judicious prescribing of opioids, community based prevention efforts, broader naloxone distribution, law enforcement efforts to curb drug trafficking, and harm reduction efforts like safe syringe programs. Expanding access to treatment and recovery services, as well as affordable health insurance for individuals with substance use disorder or at risk for developing a disorder, is also critical.
View Article and Find Full Text PDFIn working to improve the health of North Carolinians, a broader emphasis has been placed on determinants of health, or non-medical drivers of health. Critical examples of health determinants are adverse childhood experiences, or ACEs, that affect early brain development and lifelong health and function. Multiple organizations and communities have come together to acknowledge the importance of prevention, address toxic stress and trauma in childhood, promote resiliency and trauma-informed care, and invest in the future of North Carolina through its children.
View Article and Find Full Text PDFPurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative.
View Article and Find Full Text PDFObjectives: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1).
Methods: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period.
Results: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures.
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy.
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