Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding of rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome-wide sequencing performed during the initial hospitalization underwent retrospective review of medical records. Human phenotype ontology terms used in genomic analysis were aggregated and analyzed.

ErbB4 alternative splicing mediates fetal mouse alveolar type II cell differentiation in vitro.

Background: Alternative splicing (AS) creates different protein isoforms, an important mechanism regulating cell-specific function. Little is known about AS in lung development, particularly in alveolar type II (ATII) cells. ErbB4 receptor isoforms Jma and Jmb have significant and opposing functions in the brain, heart, and lung development and/or disease.

Diversity, Inclusion and Cultural Competency in Pediatric Hospital Medicine Fellowship Programs.

Objectives: The objectives with this study were to describe the current state of Pediatric Hospital Medicine (PHM) fellowship programs with regards to (1) diversity of fellows and programs' leadership, (2) current diversity and inclusion (D&I) programs and measures of their success, and (3) the state of cultural competency training.

Methods: In 2018, fellowship directors of the 35 active PHM fellowship programs were invited to participate in a survey of diversity, inclusion, and cultural competency at PHM fellowship programs. Participants were invited via in-person invitations at the annual PHM fellowship directors meeting and through e-mail invitations from July to September to complete an online survey.

Effect of Real-Time Feedback Devices on Primary Care Patient Experience Scores: A Cluster-Randomized Trial.

Patient experience is a critical measure for ambulatory primary care, although it is unclear how to best improve patient experience scores. This study aimed to determine whether use of a real-time feedback (RTF) device improved patient experience scores in a cluster-randomized trial. The primary outcomes were change from baseline in 9 Clinician and Group Consumer Assessment of Healthcare Providers and Systems (CG-CAHPS) question and domain scores most closely related to the RTF questions asked in a linear mixed effects model.

Impact of tranexamic acid on blood loss and transfusion rate in children with cerebral palsy undergoing hip reconstruction with two or more osteotomies.

Purpose: Tranexamic acid (TXA), a synthetic lysine analogue, has been used in orthopedic procedures to limit blood loss and prevent allogeneic blood transfusions. However, data are scarce on its use in hip reconstruction of patients with cerebral palsy (CP). This study examines the effect of TXA on patients with CP undergoing hip reconstruction with at least two osteotomies.

Effects of a teacher training program to promote physically active play among preschoolers with autism spectrum disorders.

Wellness Enhancing Physical Activity for Young Children (WE PLAY) is an intervention intended to promote physical activity (PA) among typically-developing preschool children in child care settings. It was adapted for use by teachers who educate children with Autism Spectrum Disorders (ASD). This study used a multiple baseline design across participants to evaluate the impact of WE PLAY-Autism on teachers' PA facilitating behaviors and on the PA levels of children with ASD.

Shared Decision-Making During Initial Diagnostic and Treatment Planning Visits for Children with Autism Spectrum Disorder.

Objective: Although shared decision-making (SDM) can improve patient engagement, adherence, and outcomes, evidence on the use of SDM within the context of autism spectrum disorder (ASD) initial diagnosis and treatment planning remains limited. The goal of this study was to objectively assess the occurrence of SDM in these visits and to compare this assessment with parent and provider perceptions of SDM in the same encounter.

Methods: After audio-recording and transcribing initial clinical visits between parents (n = 22) and developmental behavioral pediatricians (n = 6) discussing the diagnosis of ASD and treatment options, we used the OPTION5 Item scale to assess the occurrence of SDM.

Neighborhood poverty and pediatric allogeneic hematopoietic cell transplantation outcomes: a CIBMTR analysis.

Social determinants of health, including poverty, contribute significantly to health outcomes in the United States; however, their impact on pediatric hematopoietic cell transplantation (HCT) outcomes is poorly understood. We aimed to identify the association between neighborhood poverty and HCT outcomes for pediatric allogeneic HCT recipients in the Center for International Blood and Marrow Transplant Research database. We assembled 2 pediatric cohorts undergoing first allogeneic HCT from 2006 to 2015 at age ≤18 years, including 2053 children with malignant disease and 1696 children with nonmalignant disease.

Community health status and outcomes after allogeneic hematopoietic cell transplantation in the United States.

Background: The association of community factors and outcomes after hematopoietic cell transplantation (HCT) has not been comprehensively described. Using the County Health Rankings and Roadmaps (CHRR) and the Center for International Blood and Marrow Transplant Research (CIBMTR), this study evaluated the impact of community health status on allogeneic HCT outcomes.

Methods: This study included 18,544 adult allogeneic HCT recipients reported to the CIBMTR by 170 US centers in 2014-2016.

Neonatal Abstinence Syndrome Severity Index Predicts 18-Month Neurodevelopmental Outcome in Neonates Randomized to Morphine or Methadone.

Objective: To develop an index to determine which opioid-exposed neonates have the most severe neonatal abstinence syndrome (NAS).

Study Design: Full-term neonates with NAS (n = 116) from mothers maintained on methadone or buprenorphine were enrolled from 8 sites into a randomized clinical trial of morphine vs methadone. Ninety-nine (85%) were evaluated at hospital discharge using the NICU Network Neurobehavioral Scale (NNNS).

Developing Content for Pediatric Hospital Medicine Certification Examination Using Practice Analysis.

Objectives: The American Board of Pediatrics (ABP) and the Pediatric Hospital Medicine (PHM) subboard developed a content outline to serve as a blueprint for the inaugural certification examination through practice analysis. The systematic approach of practice analyses process is described in the study.

Methods: A diverse, representative panel of 12 pediatric hospitalists developed the draft content outline using multiple resources (publications, textbooks, PHM Core Competencies, PHM fellow's curriculum, etc).

Barrier Protection Use by Adolescents During Sexual Activity.

Rates of sexual activity, pregnancies, and births among adolescents have continued to decline during the past decade to historic lows. Despite these positive trends, many adolescents remain at risk for unintended pregnancy and sexually transmitted infections (STIs). When used consistently and correctly, latex and synthetic barrier methods reduce the risk of many STIs, including HIV, and pregnancy.

Barrier Protection Use by Adolescents During Sexual Activity.

Rates of sexual activity, pregnancies, and births among adolescents have continued to decline during the past decade to historic lows. Despite these positive trends, many adolescents remain at risk for unintended pregnancy and sexually transmitted infections (STIs). This technical report discusses the new data and trends in adolescent sexual behavior and barrier protection use.

Pediatric Septal Perforation Repair With the Endoscopic Anterior Ethmoid Artery Flap.

Pediatric nasal septal perforations can lead to crusting, obstruction, whistling, and recurrent epistaxis. Current approaches for pediatric nasal septal repair center on combination endonasal and external approaches. Herein we describe the successful utilization of a purely endoscopic anterior ethmoid artery flap, an established technique in adults, for nasal septal perforation repair in 3 children aged 12 to 13 years who presented with septal perforations ranging in size from 6 to 12 mm.

The impact of narratives and active video games on long-term moderate-to-vigorous physical activity: A randomized controlled trial protocol.

Background: Although physical activity (PA) has been shown in helping prevent and treat obesity, current PA interventions are still not effective in ameliorating the obesity epidemic. Additional forms of PA need to be investigated to improve PA engagement and outcomes. We hypothesize that pairing a narrative (i.

Prophylactic Flexible Bronchoscopy Immediately following Open Airway Reconstruction in Children.

Objectives: Prophylactic flexible bronchoscopy immediately following open airway reconstruction allows for directed clearance of the distal airways, potentially reducing the rate of certain postoperative respiratory complications. In this investigation, we sought to determine if prophylactic flexible bronchoscopy at the conclusion of pediatric open airway reconstruction has any benefit over blind flexible suctioning of the trachea.

Methods: A retrospective, single-center study at an urban tertiary care hospital was completed.

Contributing Factors for Pediatric Ambulatory Diagnostic Process Errors: Project RedDE.

Background: Pediatric ambulatory diagnostic errors (DEs) occur frequently. We used root cause analyses (RCAs) to identify their failure points and contributing factors.

Methods: Thirty-one practices were enrolled in a national QI collaborative to reduce 3 DEs occurring at different stages of the diagnostic process: missed adolescent depression, missed elevated blood pressure (BP), and missed actionable laboratory values.