Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.

Longitudinal Assessment of T1 Mapping Trends Disease in Pediatric Patients With Heart Transplant.

Background: Surveillance for heart transplant rejection by endomyocardial biopsy is invasive and may yield false negatives. T1 and T2 mapping from cardiac magnetic resonance can demonstrate elevations with rejection. We sought to evaluate longitudinal changes in T1 and T2 mapping in pediatric patients with heart transplant.

Cardiomyopathy-Associated Chronic Heart Failure in Infants Aged <1 Year: A Prospective Observational Cohort Over 5 Years in Northern China.

Background: There have been few large-scale studies on the outcomes of cardiomyopathy-associated heart failure (HF) in infants aged <1 year. This study aimed to assess longitudinal echocardiographic outcomes of infants with HF secondary to cardiomyopathy who survived for >1 year.

Methods And Results: A prospective observational study following 327 infant patients up to 5 years in 2 large pediatric heart centers in Northern China between January 2010 and December 2018.

Photothermal Prussian blue nanoparticles generate potent multi-targeted tumor-specific T cells as an adoptive cell therapy.

Prussian blue nanoparticle-based photothermal therapy (PBNP-PTT) is an effective tumor treatment capable of eliciting an antitumor immune response. Motivated by the ability of PBNP-PTT to potentiate endogenous immune responses, we recently demonstrated that PBNP-PTT could be used ex vivo to generate tumor-specific T cells against glioblastoma (GBM) cell lines as an adoptive T cell therapy (ATCT). In this study, we further developed this promising T cell development platform.

Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria.

Type II D-2-Hydroxyglutaric aciduria (T2D2HGA) is caused by a gain-of-function pathogenic variant in Isocitrate Dehydrogenase 2 (IDH2). Patients with T2D2HGA commonly present with developmental delay, seizures, cardiomyopathy, and arrhythmias. The recently approved IDH2-inhibitor Enasidenib targets the p.

Rate of Change in Cardiac Magnetic Resonance Imaging Measures Is Associated With Death in Duchenne Muscular Dystrophy.

Background: Cardiovascular disease is the leading cause of death among patients with Duchenne muscular dystrophy (DMD). Identifying patients at risk of early death could allow for increased monitoring and more intensive therapy. Measures that associate with death could serve as surrogate outcomes in clinical trials.

Mind the Gap! Working Toward Gender Equity in Pediatric and Congenital Heart Disease: Present and Future.

Evidence from medicine and other fields has shown that gender diversity results in better decision making and outcomes. The incoming workforce of congenital heart specialists (especially in pediatric cardiology) appears to be more gender balanced, but past studies have shown many inequities. Gender-associated differences in leadership positions, opportunities presented for academic advancement, and recognition for academic contributions to the field persist.

Development and evaluation of a novel knowledge assessment tool for pediatric emergency medicine clerkships.

Objectives: This study seeks to determine validity evidence for a newly developed multiple-choice examination (MCE) tool to assess retention and application of medical knowledge of students enrolled in a pediatric emergency medicine (PEM) clerkship.

Methods: A team of PEM physicians created a 110-item MCE covering the range of clinical topics in PEM relevant for medical students. The researchers determined examination content using the report of Clerkship Directors in Emergency Medicine and PEM Interest Group of the Society for Academic Emergency Medicine (SAEM).

Can ChatGPT help patients answer their otolaryngology questions?

Background: Over the past year, the world has been captivated by the potential of artificial intelligence (AI). The appetite for AI in science, specifically healthcare is huge. It is imperative to understand the credibility of large language models in assisting the public in medical queries.

Using Artificial Intelligence for Rheumatic Heart Disease Detection by Echocardiography: Focus on Mitral Regurgitation.

Background: Identification of children with latent rheumatic heart disease (RHD) by echocardiography, before onset of symptoms, provides an opportunity to initiate secondary prophylaxis and prevent disease progression. There have been limited artificial intelligence studies published assessing the potential of machine learning to detect and analyze mitral regurgitation or to detect the presence of RHD on standard portable echocardiograms.

Methods And Results: We used 511 echocardiograms in children, focusing on color Doppler images of the mitral valve.

Review of pediatric emergency care and the COVID-19 pandemic.

The coronavirus disease 2019 (COVID-19) pandemic posed new challenges in health care delivery for patients of all ages. These included inadequate personal protective equipment, workforce shortages, and unknowns related to a novel virus. Children have been uniquely impacted by COVID-19, both from the system of care and socially.

Overcoming barriers to drug development and enrollment in clinical trials for adolescents and young adults with lymphoma.

Lymphoma is one of the most common cancers in adolescents and young adults, but historically, this population has had lower clinical trial enrollment and improvements in overall survival as compared to other age populations. There are multiple challenges that are unique to this population that have affected drug development and clinical trial enrollment. Our panel of experts have identified barriers, and in this review, we discuss current methods to address these barriers as well as potential solutions moving forward.

Evaluating the Current Ability of ChatGPT to Assist in Professional Otolaryngology Education.

Objective: To quantify ChatGPT's concordance with expert Otolaryngologists when posed with high-level questions that require blending rote memorization and critical thinking.

Study Design: Cross-sectional survey.

Setting: OpenAI's ChatGPT-3.

Association Between Remote Monitoring and Interstage Morbidity and Death in Patients With Single-Ventricle Heart Disease Across Socioeconomic Groups.

Background: Despite improvements in survival over time, the mortality rate for infants with single-ventricle heart disease remains high. Infants of low socioeconomic status (SES) are particularly vulnerable. We sought to determine whether use of a novel remote monitoring program, the Cardiac High Acuity Monitoring Program, mitigates differences in outcomes by SES.

A Deeply Quiescent Subset of CML LSC depend on FAO yet Avoid Deleterious ROS by Suppressing Mitochondrial Complex I.

Background And Objective: Disease relapse and therapy resistance remain serious impediments to treating cancer. Leukemia stem cells (LSC) are therapy resistant and the cause of relapse. A state of deep quiescence appears to enable cancer stem cells (CSC) to acquire new somatic mutations essential for disease progression and therapy resistance.

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.

Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved dramatically. We report on a 59-year-old woman with a UCD who contributed to advances in the understanding and treatment of this group of disorders.

The role of telehealth in pediatric emergency care.

In 2006, the Institute of Medicine published a report titled "Emergency Care for Children: Growing Pains," in which it described pediatric emergency care as uneven at best. Since then, telehealth has emerged as one of the great equalizers in care of children, particularly for those in rural and underresourced communities. Clinicians in these settings may lack pediatric-specific specialization or experience in caring for critically ill or injured children.

Twitter Trends for Celiac Disease and the Gluten-Free Diet: Cross-sectional Descriptive Analysis.

Background: Few studies have systematically analyzed information regarding chronic medical conditions and available treatments on social media. Celiac disease (CD) is an exemplar of the need to investigate web-based educational sources. CD is an autoimmune condition wherein the ingestion of gluten causes intestinal damage and, if left untreated by a strict gluten-free diet (GFD), can result in significant nutritional deficiencies leading to cancer, bone disease, and death.

Spectrum of Pediatric to Early Adulthood -Associated Movement Disorders.

Background: pathogenic variants are associated with hypomyelination, hypodontia, hypogonadism, and movement disorders.

Cases: We describe the range of movement disorders seen in six patients (four female, two male) with variants [three novel (c.2214del, c.

Why ketamine.

We present the rationale for testing ketamine as an add-on therapy for treating benzodiazepine refractory (established) status epilepticus. In animal studies, ketamine terminates benzodiazepine refractory status epilepticus by interfering with the pathophysiological mechanisms and is a neuroprotectant. Ketamine does not suppress respiration when used for sedation and anesthesia.

Sustaining capacity building and practical skills training during the COVID-19 pandemic: Lessons from India.

Background: The scale and duration of the COVID-19 pandemic posed a threat to provide the required support needed by emergency medicine (EM) trainees in India participating in the masters in EM program, a global partnership between the Ronald Reagan Institute for Emergency Medicine at the George Washington University and 14 institutions in India. While some of this support has been filled by remote education through thrice-weekly online video conferencing and webinars, the gap in procedural teaching posed a different challenge.

Methods: We developed a two-part innovation to teach suture skills, a required procedure for EM trainees.