Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

Background: Ornithine transcarbamylase deficiency (OTCD) due to an X-linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently "asymptomatic" with limited studies of their clinical characteristics and long-term health vulnerabilities. Multimodal neuroimaging studies and executive function testing have shown that asymptomatic females exhibit limitations when stressed to perform at higher cognitive load and had reduced activation of the prefrontal cortex.

A randomized, controlled trial of an innovative, multimedia instructional program for acquiring auditory skill in identifying pediatric heart murmurs.

Objective: To create a brief, acceptable, innovative method for self-paced learning to enhance recognition of pediatric heart murmurs by medical students, and to demonstrate this method's effectiveness in a randomized, controlled trial.

Materials And Methods: A curriculum of six 10-min online learning modules was designed to enable deliberate practice of pediatric cardiac auscultation, using recordings of patients' heart murmurs. Principles of andragogy and multimedia learning were applied to optimize acquisition of this skill.

Determination of Glucose-Independent Racial Disparity in HbA1c for Youth With Type 1 Diabetes in the Era of Continuous Glucose Monitoring.

Background: The magnitude and importance of higher HbA1c levels not due to mean blood glucose (MBG) in non-Hispanic black (B) versus non-Hispanic white (W) individuals is controversial. We sought to clarify the relationship of HbA1c with glucose data from continuous glucose monitoring (CGM) in a young biracial population.

Methods: Glycemic data of 33 B and 85 W, healthy youth with type 1 diabetes (age 14.

Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.

Purpose: Individuals with urea cycle disorders (UCDs) may develop recurrent hyperammonemia, episodic encephalopathy, and neurological sequelae which can impact Health-related Quality of Life (HRQoL). To date, there have been no systematic studies of HRQoL in people with UCDs.

Methods: We reviewed HRQoL and clinical data for 190 children and 203 adults enrolled in a multicenter UCD natural history study.

Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.

Background: Urea cycle disorders (UCDs) cause impaired conversion of waste nitrogen to urea leading to rise in glutamine and ammonia. Elevated ammonia and glutamine have been implicated in brain injury. This study assessed relationships between biomarkers of metabolic control and long-term changes in neuropsychological test scores in participants of the longitudinal study of UCDs.

Cardiac magnetic resonance haemodynamics in paediatric heart transplant patients: fick oximetry versus cardiac magnetic resonance phase contrast.

Background: Lifetime radiation exposure for paediatric orthotopic heart transplant (OHT) patients is significant with cardiac catheterisation as the dominant source. Interventional cardiac magnetic resonance is utilised to obtain simultaneous, radiation-free haemodynamics and flow/function measurements. We sought to compare invasive haemodynamic measurements and radiation exposure in traditional cardiac catheterisation, to comprehensive interventional cardiac magnetic resonance.

Cardiometabolic risk in young adults with Down syndrome.

Studies regarding cardiometabolic risk (CMR) for individuals with Down syndrome (DS) conflict. Our previous research in youth with DS, aged 10-20 years, found increased prevalence of dyslipidemia and prediabetes compared to matched peers without DS. Herein, we compare CMR in young adults with DS, aged 18-35 years, to a similar population-based sample from the 2001-2018 National Health and Nutrition Examination Survey (NHANES).

Violent Injury as a Predictor of Subsequent Assault-Related Emergency Department Visits Among Adolescents.

Purpose: To measure the risk of a subsequent assault-related emergency department (ED) visit in assault injured adolescents as compared to those who initially presented for non-assault related injuries.

Methods: This was a historical cohort study of youth (ages 10-18 years) seen at two pediatric EDs between 2016 and 2019. Participants were included if their visit had an International Classification of Diseases-10 code for assaultive injury or accidental injury (motor vehicle collisions (MVC) and sports injuries).

Can HbA1c Alone Be Safely Used to Guide Insulin Therapy in African Youth with Type 1 Diabetes?

Introduction: The relationship of HbA1c versus the mean blood glucose (MBG) is an important guide for diabetes management but may differ between ethnic groups. In Africa, the patient's glucose information is limited or unavailable and the management is largely guided by HbA1c. We sought to determine if the reference data derived from the non-African populations led to an appropriate estimation of MBG from HbA1c for the East African patients.

Mini thoracic CT adequately determines Haller index and decreases radiation exposure in children with pectus excavatum.

Introduction: The preoperative assessment of Pectus Excavatum (PE) is resource intensive. CT chest for the purpose of calculating a Haller index (HI) remains a central component and is necessary for third-party reimbursment for surgical correction. With the goal of minimizing radiation exposure, a strategy was introduced to perform a mini-Thoracic CT (mini-CT) for the calculation of HI.

Randomized and non-randomized designs for causal inference with longitudinal data in rare disorders.

In the United States, approximately 7000 rare diseases affect 30 million patients, and only 10% of these diseases have existing therapies. Sound study design and causal inference methods are essential to demonstrate the therapeutic efficacy, safety, and effectiveness of new therapies. In the rare diseases setting, several factors challenge the use of typical parallel control designs: the small patient population size, genotypic and phenotypic diversity, and the complexity and incomplete understanding of the disorder's progression.

ASL expression in ALDH1A1 neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.

Argininosuccinate lyase (ASL) is essential for the NO-dependent regulation of tyrosine hydroxylase (TH) and thus for catecholamine production. Using a conditional mouse model with loss of ASL in catecholamine neurons, we demonstrate that ASL is expressed in dopaminergic neurons in the substantia nigra pars compacta, including the ALDH1A1 subpopulation that is pivotal for the pathogenesis of Parkinson disease (PD). Neuronal loss of ASL results in catecholamine deficiency, in accumulation and formation of tyrosine aggregates, in elevation of α-synuclein, and phenotypically in motor and cognitive deficits.

Ovarian tissue cryopreservation in young females with cancer and its impact on ovarian follicle density.

Background: Cancer therapy in young females results in irreversible damage to their ovaries potentially leading to premature ovarian failure (POF) and infertility. Ovarian follicle density (FD) serves as a key predictor of reproductive potential for a woman. FD is significantly reduced after cryopreservation in adult women with cancer.

Firearms Injuries Involving Young Children in the United States During the COVID-19 Pandemic.

Objectives: Increased rates of firearm ownership, school closures, and a suspected decrease in supervision during the coronavirus disease 2019 (COVID-19) pandemic place young children at increased risk of firearm injuries. We measured trends in firearm injuries in children and inflicted by children discharging a firearm during the pandemic and correlated these changes with a rise in firearm acquisition.

Methods: In this cross-sectional study with an interrupted time series analysis, we used multiyear data from the Gun Violence Archive.

Racial and Ethnic Disparities in Pediatric Mental Health-Related Emergency Department Visits.

Objectives: To test the hypotheses that (1) rates of mental health-related concerns presenting to pediatric emergency departments (ED) have increased (2) rates are increasing more in minority than nonminority youth.

Methods: We performed a 5-year retrospective cohort study of youth with mental health-related ED visits using the Pediatric Health Information System. We calculated rates of mental health-related visits, in aggregate and by race/ethnicity.

Cardiac changes in pediatric cancer survivors.

Cardiac damage from chemotherapy is a known phenomenon leading to significant morbidity and mortality in the cancer surviving population, and identifying high-risk pediatric patients early is challenging. The purpose of this pilot study was to evaluate whether echo strain, cardiac MRI (CMR), and serum biomarkers are more sensitive methods for detecting cardiac toxicity than standard echo and to examine the relationship between biomarkers in patients without decreased systolic function as determined by standard echo. In this pilot study, we prospectively enrolled pediatric subjects after completion of anthracycline inclusive chemotherapy.

Racial and/or Ethnic and Socioeconomic Disparities of SARS-CoV-2 Infection Among Children.

Objectives: To evaluate racial and/or ethnic and socioeconomic differences in rates of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among children.

Methods: We performed a cross-sectional study of children tested for SARS-CoV-2 at an exclusively pediatric drive-through and walk-up SARS-CoV-2 testing site from March 21, 2020, to April 28, 2020. We performed bivariable and multivariable logistic regression to measure the association of patient race and/or ethnicity and estimated median family income (based on census block group estimates) with (1) SARS-CoV-2 infection and (2) reported exposure to SARS-CoV-2.

Outcomes from a pilot patient-centered hospital-to-home transition program for children hospitalized with asthma.

Objective: To evaluate a multi-component hospital-to-home (H2H) transition program for children hospitalized with an asthma exacerbation.

Methods: A pilot prospective randomized clinical trial of guideline-based asthma care with and without a patient-centered multi-component H2H program among children enrolled in K-8 grade on Medicaid hospitalized for an asthma exacerbation. H2H program includes 5 components: medications in-hand at discharge, school-based asthma therapy (SBAT) for controller medications, referral for home trigger assessments, communication with the primary care provider (PCP), and patient navigator support.

Airway microbial diversity is decreased in young children with cystic fibrosis compared to healthy controls but improved with CFTR modulation.

Background: Culture-independent next generation sequencing has identified diverse microbial communities within the cystic fibrosis (CF) airway. The study objective was to test for differences in the upper airway microbiome of children with CF and healthy controls and age-related differences in children with CF.

Methods: Oropharyngeal swabs and clinical data were obtained from 25 children with CF and 50 healthy controls aged ≤6 years.