Early Investments Yield Long-Term Health and Community Returns.

As leaders in the healthcare and business sectors, members of the Delaware Board of Directors for the American Heart Association, and advocates for cardiovascular health and well-being, we know that supporting Delaware's youngest children promotes public health and thriving communities.

Facilitating an Interprofessional Course on Climate Change and Public Health Preparedness.

In this paper, we share the theories that guided the design of an interprofessional education course on and how the course supported students' professional interest and action competence as they move through their education and into their professional work in the context of our unfolding climate crisis. The course was guided by the public health emergency preparedness domains and was built to allow for students to explore applications of the content for themselves and their own profession. We designed the learning activities to support personal and professional interest development and help students move into perceived and demonstrated action competence.

The physiology, assessment, and treatment of neonatal pain.

Studies have clearly shown that development of pain receptors starts as early as 20-weeks' gestation. Despite contrary belief, the human fetus develops a similar number of receptive pain fibers as seen in adults. These receptors' maturation is based on response to sensory stimuli received after birth which makes the NICU a critical place for developing central nervous system's pain perception.

IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection.

Neonatal herpes simplex virus (HSV) infection is a devastating disease with substantial morbidity and mortality. The genetic basis of susceptibility to HSV in neonates remains undefined. We evaluated a male infant with neonatal skin/eye/mouth (SEM) HSV-1 disease, who had complete recovery after acyclovir but developed HSV-1 encephalitis at 1 year of age.

Preterm sepsis is associated with acute lung injury as measured by pulmonary severity score.

Background: Sepsis related acute lung injury (ALI) is established in adults but has not been investigated in premature infants. Herein, we used pulmonary severity score (PSS) trajectories and C-reactive protein (CRP) to examine the relation between sepsis and ALI in premature infants.

Methods: This retrospective study identified 211 sepsis and 123 rule out (RO) events in 443 infants born <31 weeks and <1500 grams.

Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly results in a dilated aorta, aneurysms, joint laxity, craniosynostosis, and soft skin that bruises easily. Neurodevelopmental abnormalities are uncommon in LDS. Two previous reports present a total of four patients with LDS due to pure 1q41 deletions involving TGFB2 (Gaspar et al.

Improving safe sleep practices in an urban inpatient newborn nursery and neonatal intensive care unit.

Objective: To improve safe sleep compliance in a newborn nursery (NN) and neonatal intensive care unit (NICU) to >80% in 1 year.

Study Design: Prospective quality improvement study of infants admitted to a NN and NICU. Interventions were targeted at parent education, staff education, and system processes.

Postnatal Sepsis and Bronchopulmonary Dysplasia in Premature Infants: Mechanistic Insights into "New BPD".

Bronchopulmonary dysplasia (BPD) is a debilitating disease in premature infants resulting from lung injury that disrupts alveolar and pulmonary vascular development. Despite the use of lung-protective ventilation and targeted oxygen therapy, BPD rates have not significantly changed over the last decade. Recent evidence suggests that sepsis and conditions initiating the systemic inflammatory response syndrome in preterm infants are key risk factors for BPD.

Outcomes following perinatal palliative care consultation: a retrospective review.

Objective: To inform clinical practice by describing a model of perinatal palliative care delivery within a fully staffed fetal health center (FHC) inside a freestanding children's hospital.

Study Design: The team conducted a retrospective chart review of the palliative care team (PaCT) database from FHC's inception in 2010 to 31 December, 2018, and surveyed the FHC neonatologists.

Results: PaCT consults in the FHC increased from 1 in 2010 to 102 in 2018.

Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.

Neonatal herpes simplex virus (HSV) infection is a devastating disease with high mortality, particularly when disseminated. Studies in adults and children suggest that susceptibility to herpes simplex encephalitis (HSE) may represent phenotypes for inborn errors in toll-like receptor 3 (TLR3) signaling. However, the genetic basis of susceptibility to neonatal HSV including disseminated disease remains unknown.

Heme and sensory neuropathy: insights from novel mutations in the heme exporter feline leukemia virus subgroup C receptor 1.

Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous disorders of the peripheral nervous system mainly characterized by impaired nociception and autonomic dysfunction. We previously identified heme metabolism as a novel pathway contributing to sensory neurons maintenance and nociception. Indeed, we reported mutations in the feline leukemia virus subgroup C receptor 1 (FLVCR1) gene in individuals affected by HSAN.

Movement of Genetic Counselors from Clinical to Non-clinical Positions: Identifying Driving Forces.

A previous study of genetic counselors (GCs) in the state of Indiana identified movement out of clinical positions within the past 2 years. The aims of this study were to determine if this trend is nationwide and identify reasons why GCs are leaving their positions and factors that might help employers attract and retain GCs. An email was sent to members of the American Board of Genetic Counseling with a link to an online confidential survey.

Predicting Short-Term Uptake of Electronic Cigarettes: Effects of Nicotine, Subjective Effects, and Simulated Demand.

Introduction: E-cigarettes have potential to support tobacco cessation or reduction, but how nicotine content affects smokers' subjective perceptions and use of e-cigarettes, rather than tobacco, is unclear.

Method: Thirty-five adult daily smokers who had not previously tried e-cigarettes were recruited from two cities in New Zealand in 2016-2017. Smokers were given four e-cigarette cartridges (0, 6, 12, and 18 mg nicotine) in a randomized, blinded order over four 2-week periods.

The current state of genetic counseling and newborn screening: an interview with Megan Tucker.

A certified genetic counselor for over 10 years, Megan is currently the director of the Indiana State University Genetic Counseling Graduate Program and the Genetic Counseling Clinic at Union Hospital (Terre Haute, IN, USA). She began her career split between the Center for Prenatal Diagnosis and the Medical Genetics and Neurodevelopmental Center at St Vincent Hospital (Indianapolis, IN, USA). During this time she was instrumental in both the development of the statewide Perinatal Loss Evaluation Program and a hospital protocol to ensure collection of cord blood to allow time to effectively genetically evaluate babies.

Estimating Demand and Cross-Price Elasticity for Very Low Nicotine Content (VLNC) Cigarettes Using a Simulated Demand Task.

Introduction: Very Low Nicotine Content (VLNC) cigarettes might be useful as part of a tobacco control strategy, but relatively little is known about their acceptability as substitutes for regular cigarettes. We compared subjective effects and demand for regular cigarettes and VLNC cigarettes, and estimated cross-price elasticity for VLNC cigarettes, using simulated demand tasks.

Method: Forty New Zealand smokers sampled a VLNC cigarette and completed Cigarette Purchase Tasks to indicate their demand for regular cigarettes and VLNC cigarettes at a range of prices, and a cross-price task indicating how many regular cigarettes and VLNC cigarettes they would purchase at 0.

Changes to smoking habits and addiction following tobacco excise tax increases: a comparison of Māori, Pacific and New Zealand European smokers.

Objective: To compare changes in smoking habit and psychological addiction in Māori/Pacific and NZ European smokers in response to two annual excise tax increases from 2012 to 2014.

Methods: Smokers from New Zealand cities completed questionnaires at three time points before and after two excise tax increases.

Results: There were no significant differences in cigarettes per day or psychological addiction at baseline, but a linear decline in both measures was observed in Māori/Pacific and NZ European smokers.

Genetic Counselor Workforce Issues: a Survey of Genetic Counselors Licensed in the State of Indiana.

The aims of this study were to document movement of genetic counselors (GCs) out of clinical positions and identify factors that might help employers attract and retain clinical GCs. A confidential on-line survey of GCs ever licensed in the state of Indiana was conducted. Of the 46 respondents, most provide direct patient care (69.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.

Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors.

A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.

Here we describe the second reported family with the CATSHL syndrome, a condition resulting from a unique mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Our family confirms the consistent and unique phenotype of this condition, and the specificity of the mutation in FGFR3. The CATSHL syndrome appears to be an autosomal dominant disorder with full penetrance.