Screening for adverse childhood experiences in pediatrics: A randomized trial of aggregate-level versus item-level response screening formats.

Background: While there is growing support for screening for Adverse Childhood Experiences (ACEs), rigorous evidence on the efficacy and preference of screening methods is needed.

Objective: To examine caregiver: (1) rates of disclosure of their child's exposure to ACEs using item-level response (each item can be endorsed) versus aggregate-level response (only total score reported) screening format, (2) associations between family demographic factors and disclosure by screening format, and (3) emotional reaction and experience of screening formats in a diverse, low-income pediatric population.

Methods: Caregiver participants (n = 367) were randomized to complete the Pediatric ACEs and Related Life Events Screener (PEARLS) tool, in an aggregate-level response vs item-level response format from 2016-2019.

Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race.

Scant research has explored the healthcare experiences of people with Down syndrome (DS) in the United States who are Black, African American, of African descent, or of mixed race. The purpose of this study was to identify and describe the barriers and facilitators that such patients and their caregivers face when accessing healthcare. We gathered data in three ways: focus groups with caregivers, a national survey completed by caregivers, and in-depth interviews with primary care providers.

Adolescent elbow osteochondral lesions following prior elbow fracture pinning.

Purpose: Pinning of pediatric elbow fractures has been shown to be a safe procedure with a low complication profile. This study identified patients who underwent cartilage surgery for elbow osteochondral lesions or osteochondritis dissecans who had prior ipsilateral elbow pinning.

Methods: Records of patients who underwent ipsilateral cartilage surgery for osteochondritis dissecans and prior percutaneous pinning for elbow fractures were identified.

Development of a Thalassemia International Prognostic Scoring System (TIPSS).

A prognostic scoring system that can differentiate β-thalassemia patients based on mortality risk is lacking. We analysed data from 3145 β-thalassemia patients followed through a retrospective cohort design for the outcome of death. An a priori list of prognostic variables was collected.

Left ventricular diastolic filling patterns in competitive triathletes with and without myocardial fibrosis by cardiac magnetic resonance time-volume analysis.

Purpose: To investigate the influence of myocardial fibrosis on left ventricular (LV) diastolic filling patterns in triathletes compared to sedentary controls by cardiac magnetic resonance (CMR) imaging.

Method: 101 male triathletes (43 ± 11 years) and 28 controls (41 ± 10 years) were recruited and underwent 1.5 T CMR including cine SSFP series, late gadolinium enhancement (LGE) imaging and T1 mapping.

Quality of Life in Sickle Cell Disease: What Matters.

Health-related quality of life (HRQoL) represents the practical effects of an illness in terms of symptoms and impacts, and of consequent treatments, as perceived by the patient. HRQoL is a complex multidimensional phenomenon in sickle cell disease (SCD) involving external stressors, thought patterns, emotional distress, physiological arousal, pain, and other complications of SCD. Social determinants of health comprise food and housing security, employment and education, and experiences of racism and discrimination; these social determinants also potentially affect health, HRQoL, and access to health care.

What does it mean to be affiliated with care?: Delphi consensus on the definition of "unaffiliation" and "specialist" in sickle cell disease.

Accruing evidence reveals best practices for how to help individuals living with Sickle Cell Disease (SCD); yet, the implementation of these evidence-based practices in healthcare settings is lacking. The Sickle Cell Disease Implementation Consortium (SCDIC) is a national consortium that uses implementation science to identify and address barriers to care in SCD. The SCDIC seeks to understand how and why patients become unaffiliated from care and determine strategies to identify and connect patients to care.

dysregulation as a possible mechanism of immune evasion in SARS-CoV-2 and other RNA-virus infections.

One of the mechanisms by which viruses can evade the host's immune system is to modify the host's DNA methylation pattern. This work aims to investigate the DNA methylation and gene expression profile of COVID-19 patients, divided into symptomatic and asymptomatic, and healthy controls, focusing on genes involved in the immune response. In this study, changes in the methylome of COVID-19 patients' upper airways cells, the first barrier against respiratory infections and the first cells presenting viral antigens, are shown for the first time.

Factors Associated With COVID-19 Non-vaccination in Adolescents Hospitalized Without COVID-19.

Background: Pfizer-BioNTech COVID-19 vaccine received emergency use authorization for persons ≥ 16 years in December 2020 and for adolescents 12-15 years in May 2021. Despite the clear benefits and favorable safety profile, vaccine uptake in adolescents has been suboptimal. We sought to assess factors associated with COVID-19 non-vaccination in adolescents 12-18 years of age.

First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.

Zinc-finger nuclease (ZFN)-based in vivo genome editing is a novel treatment that can potentially provide lifelong protein replacement with single intravenous administration. Three first-in-human open-label ascending single-dose phase 1/2 studies were performed in parallel (starting November 2017) primarily to assess safety and tolerability of ZFN in vivo editing therapy in mucopolysaccharidosis I (MPS I) (n = 3), MPS II (n = 9), and hemophilia B (n = 1). Treatment was well tolerated with no serious treatment-related adverse events.

Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial.

Background: Niemann-Pick Disease Type C1 (NPC1) is a disorder of intracellular cholesterol and lipid trafficking that leads to the accumulation of cholesterol and lipids in the late endosomal/lysosomal compartment, resulting in systemic manifestations (including hepatosplenomegaly and lung infiltration) and neurodegeneration. Preclinical studies have demonstrated that systemically administered 2-hydroxypropyl-β-cyclodextrin (HPβCD; Trappsol® Cyclo™) restores cholesterol metabolism and homeostasis in peripheral organs and tissues and in the central nervous system (CNS). Here, we assessed the safety, pharmacokinetics, and pharmacodynamics of HPβCD in peripheral tissues and the CNS in adult subjects with NPC1.

Rates of Operative Management of Midshaft Clavicle Fracture in Adolescents Have Increased in Florida between 2005 and 2014.

It is not known if the adult literature on midshaft clavicle fracture treatment with open reduction internal fixation (ORIF) has influenced injury management in adolescents. : We sought to longitudinally evaluate the rates of operative management of adolescent midshaft clavicle fractures in the state of Florida. : We conducted a retrospective review of data from the following Healthcare Cost and Utilization Project databases: the State Inpatient Database, the State Ambulatory Surgery and Services Database, and the State Emergency Department Database.

Teaching SSHADESS Versus HEADSS to Medical Students: An Association With Improved Communication Skills and Increased Psychosocial Factor Assessments.

Objective: The most recent Bright Futures edition describes both the HEADSS (Home, Education, Drugs, Sexuality, Safety) and the strength-based SSHADESS (Strengths, School, Home, Activities, Drugs, Emotions, Sexuality, Safety) frameworks for conducting an adolescent psychosocial history. We found limited research comparing the effectiveness of these 2 frameworks. Our study objective was to examine whether teaching medical students SSHADESS versus HEADSS is associated with increased communication skills and/or completion of the psychosocial assessment.

Atrial Appendage Anastomosis in Hypoplastic Left Heart Syndrome With Restrictive Atrial Septum: A Novel Approach.

Intact atrial septum (IAS), occurring in ∼10% of patients with hypoplastic left heart syndrome (HLHS), conveys significant neonatal morbidity and mortality. Perinatal interventions have been described, but outcomes remain poor. We present a fetus with HLHS with IAS who underwent immediate novel postnatal atrial appendage anastomosis, thus achieving rapid left atrial decompression.

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

Purpose: This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in interventional trials of vosoritide, and to establish a historical control.

Methods: In this prospective, observational study, participants (≤17 years) underwent a detailed medical history and physical examination and were followed every 3 months until they finished participating in the study by enrolling in an interventional trial or withdrawing.

Results: A total of 363 children were enrolled (28 centers, 8 countries).

Barriers to hydroxyurea use from the perspectives of providers, individuals with sickle cell disease, and families: Report from a U.S. regional collaborative.

Sickle cell disease (SCD) is an inherited blood disorder that affects about 100,000 people in the U.S., primarily Blacks/African-Americans.

Metronidazole for treatment of norovirus in pediatric transplant recipients.

Background: Norovirus is a common cause of gastroenteritis in both immunocompetent and immunocompromised hosts. In transplant recipients, it can lead to prolonged shedding and chronic diarrhea. Treatment with nitazoxanide, oral immunoglobulin, or mammalian target of rapamycin inhibitors has shown varying degrees of benefit in case reports and case series.

Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.

The Crumbs homolog-2 (CRB2)-related syndrome (CRBS-RS) is a rarely encountered condition initially described as a triad comprising ventriculomegaly, Finnish nephrosis, and elevated alpha-fetoprotein levels in maternal serum and amniotic fluid. CRB2-related syndrome is caused by biallelic, pathogenic variants in the CRB2 gene. Recent reports of CRB2-RS have highlighted renal disease with persistent proteinuria and steroid-resistant nephrotic syndrome (SRNS).

Clinical features, biochemistry, and HLA-DRB1 status in youth-onset type 1 diabetes in Mali.

Objective: Limited information is available regarding youth-onset diabetes in Mali. We investigated demographic, clinical, biochemical, and genetic features in new diabetes cases in children and adolescents.

Research Design And Methods: The study was conducted at Hôpital du Mali in Bamako.

Foreign Body Reaction Following Use of a Novel Bone Graft Substitute in Pediatric Cranioplasty.

Pediatric cranioplasty is indicated to repair skull defects with a wide variety of etiologies. The choice of graft material used to fill the defect is of paramount importance to the long-term success of this procedure. A variety of synthetic products have been commercially developed to avoid donor site morbidity.