Cognitive Fluctuations in a Rare Disease Population: Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals with Phenylketonuria.

Background: Phenylketonuria (PKU) is a rare, hereditary disease that causes disruption in phenylalanine (Phe) metabolism. Despite early intervention, individuals with PKU may have difficulty in several different cognitive domains, including verbal fluency, processing speed, and executive functioning.

Objective: The overarching goal of the Evaluating Fluctuations in Cognitive and Speech Characteristics in Phenylketonuria study (CSP Study) is to characterize the relationships among cognition, speech, mood, and blood-based biomarkers (Phe, Tyr) in individuals with early treated PKU.

Rapid MRI for acute pediatric MSK infections: survey of current utilization and procedural practices.

Background: Some institutions have implemented rapid MRI protocols for acute musculoskeletal (MSK) infections as an attempt to improve early diagnosis.

Objective: To assess current utilization of pediatric rapid MSK MRI protocols (abbreviated protocol, no IV (intravenous) contrast, and no sedation) using a survey.

Materials And Methods: A 10-question survey was sent to members of the Society for Pediatric Radiology (SPR) and the Society of Skeletal Radiology, which differed depending on whether a rapid protocol was used or not.

Fractal Dimension Analysis of Peripapillary Microvasculature in Primary Congenital Glaucoma.

Precis: In this prospective multicenter study, eyes with primary congenital glaucoma exhibited lower retinal vascular parameters compared to healthy controls, as assessed by optical coherence tomography angiography fractal dimension analysis.

Purpose: To study the retino-choroidal peripapillary microvascular pattern in primary congenital glaucoma (PCG) using fractal dimension (FD) analysis and compare it to healthy controls.

Methods: This was a prospective multicenter comparative study.

The Frequency and Potential Implications of HFE Genetic Variants in Children With Cystic Fibrosis.

Background: Genetic modifiers have been identified that increase the risks of lung disease and other complications, such as diabetes in people with cystic fibrosis (CF). Variants in the hemochromatosis gene (HFE) were reported in a study of adults to be associated with worse lung disease.

Objectives: To ascertain the frequency of HFE variants, particularly C282Y (c.

Bayesian nested frailty model for evaluating surgical management of patulous Eustachian tube dysfunction.

Background: The nested frailty model, a random effects survival model that can accommodate data clustered at two hierarchical levels, has been rarely used in practice. We aimed to evaluate the utility of the Bayesian nested frailty modeling approach in the context of a study to examine the effects of various surgical procedures for patients with patulous Eustachian tube dysfunction (PETD).

Methods: A nested frailty model was employed to account for the correlation between each pair of ears within patients and the correlation between multiple event times within each ear.

The Effect of a Brief Medical Huddle on Patient and Family Experience During Rounds.

Background: Initial studies of patient- and family-centered rounds (PFCR) in pediatrics used parental interest in participating as the primary outcome. There are mixed results of family satisfaction with the process when compared with standard rounding. To date, there are limited data examining hybrid models of rounding and communication.

Understanding Provider's Experiences With Telehealth at an Urban Pediatric Health Care System.

The purpose of this three-part, mixed-methods study is to mitigate patient risk by understanding and describing the current and future state of pediatric telehealth (TH) care delivery. As the COVID-19 pandemic emerged, an unprepared clinical workforce mobilized to quickly transition patients to TH to mitigate the risk of infection and maintain access to care. Optimizing digital health care delivery requires an understanding of the current models of care, the identification of best practices, and opportunities for improvement to mitigate patient/family, provider, and institutional risk.

Combination Automated Microfluidics Measurement of Urine CCL2, CXCL9, CXCL10 and VEGF-A for Monitoring Patients with a Kidney Transplant.

Background: Recent studies indicate that up to 36% of pediatric and adult kidney transplant recipients with stable serum creatinine levels will have acute rejection detected on surveillance biopsy. The purpose of this study was to develop and validate a risk algorithm for identifying low- and high-risk patients using a novel automated platform that simultaneously measures urinary CCL2, CXCL9, CXCL10 and VEGF-A with high precision.

Methods: We designed a multicenter observational study to evaluate the performance of urinary CCL2, CXCL9, CXCL10 and VEGF-A in a training set of 517 banked samples collected at the time of surveillance or indication kidney biopsies from both adult and pediatric recipients.

Trbp inhibits cardiac fibrosis through TGF-β pathway-mediated cross-talk between cardiomyocytes and fibroblasts.

Cardiac remodeling in response to disease or tissue damage severely impairs heart function. Therefore, the description of the molecular mechanisms responsible is essential for the development of effective therapies. Trbp (Tarbp2) is a multifunctional RNA-binding protein that is essential during heart development, but its role in the adult heart and cardiac remodeling remains unknown.

Strengthening Discovery and Application of Artificial Intelligence in Anesthesiology: A Report from the Anesthesia Research Council.

Interest in the potential applications of artificial intelligence in medicine, anesthesiology, and the world at large has never been higher. The Anesthesia Research Council steering committee formed an anesthesiologist artificial intelligence expert workgroup charged with evaluating the current state of artificial intelligence in anesthesiology, providing examples of future artificial intelligence applications and identifying barriers to artificial intelligence progress. The workgroup's findings are summarized here, starting with a brief introduction to artificial intelligence for clinicians, followed by overviews of current and anticipated artificial intelligence-focused research and applications in anesthesiology.

Revisiting the druggable genome using predicted structures and data mining.

Identification of novel drug targets is a key component of modern drug discovery. While antimalarial targets are often identified through the mechanism of action studies on phenotypically derived inhibitors, this method tends to be time- and resource-consuming. The discoverable target space is also constrained by existing compound libraries and phenotypic assay conditions.

Weight-loss interventions for adolescents with Down syndrome: a systematic review.

Objective: Youth with Down syndrome (DS) experience high rates of overweight and obesity; therefore, weight-loss interventions are warranted. We aimed to systematically review weight-loss interventions for adolescents with DS to better understand the most effective strategies and identify the current gaps in the literature.

Methods: This systematic review followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines (International Prospective Register of Systematic Reviews [PROSPERO] #CRD42022303781).

Pain-Related and Psychosocial Functioning in Gender-Diverse Youth with Chronic Pain Prior to and Following the Start of the COVID-19 Pandemic.

The health disparities experienced by gender-diverse youth have not yet been adequately examined within specific pediatric populations, such as chronic pain. Furthermore, such disparities need to be examined within the context of the COVID-19 global pandemic, a time when clinicians observed an increase in gender-diverse patients seeking care for pediatric chronic pain. The goal of this study is to better understand the clinical pain-related and psychosocial presentation of gender-diverse youth who sought treatment for chronic pain prior to and following the start of the COVID-19 pandemic.

Associations Between Residency Program Size and Readiness for Unsupervised Practice in Pediatrics.

Objective: This study sought to determine differences in program reported entrustable professional activity (EPA) entrustment-supervision levels based on residency program size.

Methods: At the end of the 2021-22, 2022-23, and 2023-24 academic years, entrustment-supervision levels for the 17 General Pediatrics EPAs were determined by clinical competency committees for graduating pediatric residents at 48 pediatrics residency programs. Programs were categorized as small, medium, large, and very large.

Emerin Dysregulation Drives the Very-Small-Nuclear Phenotype and Lineage Plasticity that Associates with a Clinically Aggressive Subtype of Prostate Cancer.

Background: Circulating tumor cells (CTCs) with a very-small-nuclear phenotype (vsnCTCs) in prostate cancer (PCa) are characterized by nuclei smaller than 8.5 μm. Our previous studies established an association between vsnCTCs and visceral metastasis.

Convection-Enhanced Delivery of Auristatin-Conjugated Layer-by-Layer Nanoparticles for Glioblastoma Treatment.

Glioblastoma (GBM) has limited treatment options, as the restrictive blood-brain barrier (BBB) prevents most therapeutics from accumulating at sufficient levels in the brain. Convection-enhanced delivery (CED) offers a method for administering therapeutics directly into brain tumor tissue, but free drugs can be cleared rapidly and may be toxic to off-target cells. Drug-loaded nanoparticles (NPs) are a promising platform to prolong the residence time and improve cellular targeting of therapeutics.

Corrigendum: Anti-Mesothelin CAR-NK cells as a novel targeted therapy against cervical cancer.

[This corrects the article DOI: 10.3389/fimmu.2024.

Network Localization of Pediatric Lesion-Induced Dystonia.

Objective: Dystonia is a movement disorder defined by involuntary muscle contractions leading to abnormal postures or twisting and repetitive movements. Classically dystonia has been thought of as a disorder of the basal ganglia, but newer results in idiopathic dystonia and lesion-induced dystonia in adults point to broader motor network dysfunction spanning the basal ganglia, cerebellum, premotor cortex, sensorimotor, and frontoparietal regions. It is unclear whether a similar network is shared between different etiologies of pediatric lesion-induced dystonia.

Age at Menarche and Coronary Artery Disease Risk: Divergent Associations with Different Sources of Variation.

Background: In women, both earlier and later age at menarche (AAM) are associated with increased risk of coronary artery disease (CAD). This study examined if the relationship of AAM with CAD and CAD risk factors differs for different underlying sources of variation in AAM - specifically, variation attributable to common genetic variants, as represented by a polygenic score (PGS), vs. variation in AAM independent of the PGS (e.