Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Objective: Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development delay may precede developmental plateau.

Violence in the emergency department: a quantitative survey study of healthcare providers in India.

Background: Workplace violence (WPV) in Emergency Departments (EDs) is an increasingly recognized challenge healthcare providers face in low-resource settings. While studies have highlighted the increased prevalence of WPV in healthcare, most of the existing research has been conducted in developed countries with established laws and repercussions for violence against healthcare providers. More data on WPV against ED providers practicing in low-resource settings is necessary to understand these providers' unique challenges.

Improving Outcomes in Nosocomial Pneumonia: Recent Evidence and More Challenges.

Nosocomial pneumonia (NP) represents a leading nosocomial infection and results in substantial morbidity and cost. Over the last several years, the evidence has evolved which directs our approach to NP. Specifically, the definition of NP and classification of its various subtypes has expanded to capture nuances among various phenotypes of this syndrome.

Establishing Optimal Control Cohorts for Phase 1 Trials: Retrospective Analysis of Clinical and Biological Outcomes in Neonates and Infants Undergoing Two-Ventricle Repair.

Phase 1 trials are primarily conducted to evaluate the safety and feasibility of new interventions, usually without recruiting control patients. This retrospective study aims to characterize clinical and biological outcomes in historical and contemporary cases of neonates and infants undergoing two-ventricle repair to facilitate future secondary endpoint analyses for such trials. This retrospective study included neonates/infants (ages ≤ 6 months) who underwent two-ventricle repair between 2015 and 2021 using the same criteria as our phase 1 trial (n = 199).

Pressure boundary conditions for immersed-boundary methods.

Immersed boundary methods have seen an enormous increase in popularity over the past two decades, especially for problems involving complex moving/deforming boundaries. In most cases, the boundary conditions on the immersed body are enforced via forcing functions in the momentum equations, which in the case of fractional step methods may be problematic due to: i) creation of slip-errors resulting from the lack of explicitly enforcing boundary conditions on the (pseudo-)pressure on the immersed body; ii) coupling of the solution in the fluid and solid domains via the Poisson equation. Examples of fractional-step formulations that simultaneously enforce velocity and pressure boundary conditions have also been developed, but in most cases the standard Poisson equation is replaced by a more complex system which requires expensive iterative solvers.

Comparing Outcomes of Post-Cardiotomy Cardiogenic Shock Patients: On-Site Cannulation vs. Retrieval for V-A ECMO Support.

Post-cardiotomy cardiogenic shock (PCCS) remains a life-threatening complication after cardiac surgery. Extracorporeal membrane oxygenation (ECMO) represents the mainstay of mechanical circulatory support for PCCS; however, its availability is limited to larger experienced centers, leading to a mismatch between centers performing cardiac surgery and hospitals offering ECMO management beyond cannulation. We sought to evaluate the outcomes and complications of PCCS patients requiring veno-arterial (V-A) ECMO cannulated at our hospital compared to those cannulated at referral hospitals.

Molecular-targeted therapy for childhood low-grade glial and glioneuronal tumors.

Since the discovery of the association between BRAF mutations and fusions in the development of childhood low-grade gliomas and the subsequent recognition that most childhood low-grade glial and glioneuronal tumors have aberrant signaling through the RAS/RAF/MAP kinase pathway, there has been a dramatic change in how these tumors are conceptualized. Many of the fusions and mutations present in these tumors are associated with molecular targets, which have agents in development or already in clinical use. Various agents, including MEK inhibitors, BRAF inhibitors, MTOR inhibitors and, in small subsets of patients NTRK inhibitors, have been used successfully to treat children with recurrent disease, after failure of conventional approaches such as surgery or chemotherapy.

Phase II study of vemurafenib in children and young adults with tumors harboring BRAF V600 mutations: NCI-COG pediatric MATCH trial (APEC1621) Arm G.

Background: This is a phase II subprotocol of the NCI-COG Pediatric MATCH study evaluating vemurafenib, a selective oral inhibitor of BRAF V600 mutated kinase, in patients with relapsed or refractory solid tumors harboring BRAF V600 mutations.

Methods: Patients received vemurafenib at 550 mg/m2 (maximum 960 mg/dose) orally twice daily for 28-day cycles until progression or intolerable toxicity. The primary aim was to determine the objective response rate and secondary objectives included estimating progression-free survival and assessing the tolerability of vemurafenib.

CAFES: Chest X-ray Analysis using Federated Self-supervised Learning for Pediatric COVID-19 Detection.

Chest X-rays (CXRs) play a pivotal role in cost-effective clinical assessment of various heart and lung related conditions. The urgency of COVID-19 diagnosis prompted their use in identifying conditions like lung opacity, pneumonia, and acute respiratory distress syndrome in pediatric patients. We propose an AI-driven solution for binary COVID-19 versus non-COVID-19 classification in pediatric CXRs.

Electroanatomical adaptations in the guinea pig heart from neonatal to adulthood.

Aims: Electroanatomical adaptations during the neonatal to adult phase have not been comprehensively studied in preclinical animal models. To explore the impact of age as a biological variable on cardiac electrophysiology, we employed neonatal and adult guinea pigs, which are a recognized animal model for developmental research.

Methods And Results: Electrocardiogram recordings were collected in vivo from anaesthetized animals.

Impact of the use of plaque modification techniques on coronary microcirculation using an angiography-derived index of microcirculatory resistance.

Many lesions in patients undergoing percutaneous coronary intervention (PCI) exhibit significant calcification. Several techniques have been developed to improve outcomes in this setting. However, their impact on coronary microcirculation remains unknown.

Comparison of Ductal Stent Versus Surgical Shunt as Initial Intervention for Neonates with Pulmonary Atresia with Intact Ventricular Septum.

Data comparing surgical systemic-to-pulmonary artery shunt and patent ductus arteriosus (PDA) stent as the initial palliation procedure for patients with pulmonary atresia with intact ventricular septum (PA-IVS) are limited. We sought to compare characteristics and outcomes in a multicenter cohort of patients with PA-IVS undergoing surgical shunts versus PDA stents. We retrospectively reviewed neonates with PA-IVS from 2009 to 2019 in 19 United States centers.

Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.

Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of type I collagen. Until recently, most research in OI has focused on the pediatric population and much less attention has been directed at the effects of OI in the adult population. This is a narrative review of the literature focusing on the skeletal as well as non-skeletal manifestations in adults with OI that may affect the aging individual.

The Declaration of the National Emergency in Child and Adolescent Mental Health: It Takes a Village.

Recognition of the high prevalence of children's mental health conditions and challenges to accessing needed care faced by children and their families have been long-standing concerns, emerging well before the onset of the COVID-19 pandemic. Global data examining the prevalence of at least one mental health and/or substance-use disorder for 2516 million people aged 5 to 24 years in 2019 found that at least 293 million people were affected by at least one mental health disorder and 31 million affected by a substance-use disorder.

Vosoritide treatment for children with hypochondroplasia: a phase 2 trial.

Background: Hypochondroplasia is a rare autosomal dominant skeletal dysplasia due to activating variants in . It presents with disproportionate short stature with a wide range of clinical severity. There are currently no approved medications to treat short stature in children with hypochondroplasia.