Barriers and facilitators to caregiver comfort with health-related social needs data collection in the pediatric clinical setting.

Objective: To identify barriers and facilitators to family-level comfort with health-related social needs (HRSN) data collection and documentation in the pediatric clinical setting.

Study Setting And Design: This qualitative study was nested within a pragmatic randomized controlled trial on social care integration in the pediatric clinical setting. We used a hybrid random-purposive strategy to sample 60 caregivers of pediatric patients ages 0-25 presenting at two primary care clinics and one emergency department affiliated with a large pediatric healthcare system between September 2022 and 2023.

Do the provisional PRINTO Enthesitis/Spondylitis-Related JIA criteria capture youth with axial spondyloarthritis?

Background: The Paediatric Rheumatology International Trials Organisation (PRINTO) recently undertook an effort to better harmonize the pediatric and adult arthritis criteria. These provisional criteria are being refined for optimal performance. We aimed to investigate differences between patients who did and did not fulfill these PRINTO criteria amongst youth diagnosed with juvenile spondyloarthritis (SpA) that met axial juvenile SpA (axJSpA) classification criteria.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

LDB1 establishes multi-enhancer networks to regulate gene expression.

How specific enhancer-promoter pairing is established remains mostly unclear. Besides the CTCF/cohesin machinery, few nuclear factors have been studied for a direct role in physically connecting regulatory elements. Using a murine erythroid cell model, we show via acute degradation experiments that LDB1 directly and broadly promotes connectivity among regulatory elements.

Topiramate treatment of pediatric metabolic dysfunction-associated steatotic liver disease: A descriptive cohort study.

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a common disease in children. Lifestyle modification is the primary treatment but difficult to achieve and maintain. Topiramate is a component of an approved weight loss medication (topiramate-phentermine) in children aged 12 years and older but is more commonly used as a single agent, off-label, for pediatric obesity.

Real-world effectiveness and causal mediation study of BNT162b2 on long COVID risks in children and adolescents.

Background: The impact of pre-infection vaccination on the risk of long COVID remains unclear in the pediatric population. We aim to assess the effectiveness of BNT162b2 on long COVID risks with various strains of the SARS-CoV-2 virus in children and adolescents, using comparative effectiveness methods. We further explore if such pre-infection vaccination can mitigate the risk of long COVID beyond its established protective benefits against SARS-CoV-2 infection using causal mediation analysis.

Cardiovascular Disease Among Women and Birthing Individuals After Delivering a Child With Congenital Heart Disease.

Background: Individuals have a higher risk of cardiovascular disease later in life if they give birth to a child with congenital heart disease (CHD). The mechanism of this association has not been well documented.

Objectives: The authors aimed to describe the prevalence of cardiovascular disease and risk factors in women and birthing individuals 18 to 23 years after delivery of a child with CHD compared to normative data.

Design and implementation of a multicenter protocol to obtain impulse oscillometry data in preterm children.

Importance: Objective measures of lung function are critical for assessing respiratory outcomes of prematurity. Among extremely low gestational age neonates (ELGANs) (< 29 weeks gestational age), high rates of neurodevelopmental impairment may interfere with lung function testing. Impulse oscillometry (IOS) is a noninvasive test of respiratory system mechanics not requiring forced expiration.

Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.

Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.

Primary Versus Secondary Immune Thrombocytopenia (ITP): A Meeting Report from the 2023 McMaster ITP Summit.

The McMaster Immune Thrombocytopenia (ITP) Summit was an educational seminar from leading experts in immune thrombocytopenia and related disorders geared towards hematologists, internists, immunologists, and clinical and translational scientists. The focus of the Summit was to review the mechanisms, diagnosis and treatment of primary versus secondary ITP. Specific objectives were to describe the unique features of secondary ITP, and to review its mechanisms in the context of autoimmune disease and infection.

Building global collaborative research networks in paediatric critical care: a roadmap.

Paediatric critical care units are designed for children at a vulnerable stage of development, yet the evidence base for practice and policy in paediatric critical care remains scarce. In this Health Policy, we present a roadmap providing strategic guidance for international paediatric critical care trials. We convened a multidisciplinary group of 32 paediatric critical care experts from six continents representing paediatric critical care research networks and groups.

Long-term outcome of pediatric acute severe colitis: A prospective 5-year follow-up of the PRASCO trial.

Objectives: The PRASCO trial reported the short-term superiority of an antibiotic cocktail plus intravenous corticosteroids (IVCS) over IVCS alone in children with acute severe colitis (ASC). Here, we report the extension of the PRASCO trial and the long-term outcomes of the antibiotic cocktail in ASC.

Methods: This prospective follow-up of the PRASCO trial documented disease outcomes and treatments annually through 5 years.

Selective termination: a life-saving procedure for complicated monochorionic gestations.

Monochorionic twin pregnancies are a subset of twin pregnancies that face potential complications related to a shared circulation between the fetuses. These complications are related to anastomotic placental vessels connecting the cardiovascular systems of the two fetuses, which can result in significant sequela if one twin experiences intrauterine death. The sudden cardiovascular collapse in this scenario leads to a massive blood shift away from the healthy co-twin, significantly jeopardizing its life and long-term neurodevelopmental outcome.

Automated pediatric brain tumor imaging assessment tool from CBTN: Enhancing suprasellar region inclusion and managing limited data with deep learning.

Background: Fully automatic skull-stripping and tumor segmentation are crucial for monitoring pediatric brain tumors (PBT). Current methods, however, often lack generalizability, particularly for rare tumors in the sellar/suprasellar regions and when applied to real-world clinical data in limited data scenarios. To address these challenges, we propose AI-driven techniques for skull-stripping and tumor segmentation.

Association of gestational and childhood circulating C-peptide concentrations in the hyperglycemia and adverse pregnancy outcomes follow-up study.

Aims: This study examined the association of gravida C-peptide with progeny islet function and insulin sensitivity in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study (HAPO FUS).

Methods: Pregnancy 3rd trimester oral glucose tolerance test (OGTT), cord blood, and offspring OGTT glucose, C-peptide and insulin at age 10-14 years were analyzed for 4,121 mother-child dyads. Gravida fasting and 1-hour C-peptide concentration correlations with cord blood and childhood C-peptide, insulin, insulinogenic index and insulin sensitivity, and insulin resistance [HOMA-IR]), were assessed by multiple linear regression.

A vascularized microfluidic model of the osteochondral unit for modeling inflammatory response and therapeutic screening.

Osteoarthritis (OA) has long been considered a disease of the articular cartilage. Within the past decade it has become increasingly clear that OA is a disease of the entire joint space and that interactions between articular cartilage and subchondral bone likely play an important role in the disease. Driven by this knowledge, we have created a novel microphysiological model of the osteochondral unit containing synovium, cartilage, bone, and vasculature in separate compartments with molecular and direct cell-cell interaction between the cells from the different tissue types.

Letter to the editor in response to Duan X, et al, CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C).

Duan X, et al, report that CYP4A22 loss-of-function causes a new form of vitamin D-dependent rickets. Here we describe the basis for our rejection of their proposal and provide evidence that the CYP4A22 variant that they have identified (c.901del, p.

An institution-wide mixed methods assessment of healthcare transition.

Background: Healthcare transition (HCT) is the process of moving a patient from pediatric, parent-supervised care to an independent, adult-centered model. This study assesses current HCT activities and explores the educational and system-based needs for effective HCT processes in a single institution.

Methods: We interviewed division/care program leaders at one academic tertiary-care children's hospital regarding HCT practices.

Training young adults as community health workers specializing in pediatric to adult health care transition to support emerging adults with sickle cell disease.

Background: Transition to adulthood is a vulnerable time for emerging adults (16-25 years of age) with sickle cell disease (SCD), as there is a seven-fold increase in mortality rates during the transition period. Emerging adults with SCD also have the highest rates of hospitalizations, emergency room visits, and hospital readmissions compared to other age groups. Community health worker (CHW) programs have been developed to address outcomes such as patient activation which includes an individual's knowledge, skill, and confidence for managing one's health and healthcare, quality of life, and healthcare utilization for patients with chronic illnesses.

Development of the iManage SCD mobile health application for transition.

Objective: This paper outlines the design and implementation of iManage SCD, a self-management mobile health application for adolescents and young adults (AYA) with sickle cell disease (SCD) during transition from pediatric to adult health care.

Methods: The Integrate, Design, Assess, Share (IDEAS) framework, emphasizing user insights, iterative design, rigorous assessment, and knowledge sharing, guided the development process. The design team consisted of researchers, psychologists, physicians, social workers, AYA with SCD, and parents of AYA with SCD (n = 16) across three states.

Health care transition quadruple aim outcomes for IDD: Scoping review.

Purpose: Structured HCT models addressing planning, transfer, and integration into adult care for adolescents and young adults with childhood-acquired chronic conditions are becoming more prevalent. However, consensus on outcome measures to assess health care transition (HCT) interventions particularly for intellectual and developmental disabilities (IDD) population is lacking. This scoping review identified potential HCT outcome measures for young adults (aged 18-26) with IDD using the Quadruple Aim Framework.