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.