Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.

Budget Impact Analysis of Integrative Medicine Practices for Pediatric Patients with Chronic Pain.

Objectives: Chronic pain is a leading cause of morbidity in children and adolescents globally but can be managed with a combination of traditional Western medicine and integrative medicine (IM) practices. This combination has improved various critical health outcomes, such as quality-of-life, sleep, pain, anxiety, and healthcare utilization. These IM practices include acupuncture, yoga, biofeedback, massage, mindfulness, or any combination of these modalities.

Factors associated with treatment response in chronic nonbacterial osteomyelitis at a single center: a retrospective cohort study.

Background: NSAIDs are commonly used as first line therapy in chronic nonbacterial osteomyelitis (CNO) but are not effective for all patients. The objective of this study was to identify clinical variables associated with NSAID monotherapy response versus requiring second-line medication in a single-center cohort of patients with CNO.

Methods: The charts of children with CNO who attended a CNO clinic at a quaternary care center between 1/1/05 and 7/31/21 were retrospectively reviewed.

Novel Concepts on the Functional Neuroanatomy of the Anorectum: Implications for Anorectal Neuropathy and Neuromodulation Therapy.

Anorectal neuropathy causes anorectal dysfunction, yet it is poorly recognized. This stems from both a lack of understanding of the extrinsic and intrinsic innervation of the anorectum and tools for evaluation of neuronal function. Our objective was to provide an improved understanding of the neuronal networks of the anorectum and discuss its functional significance.

Kidney Outcomes in Children Receiving Extracorporeal Membrane Oxygenation: A Single-Center Acute Cohort From 2009 to 2019, Followed to 2021.

Objectives: Long-term kidney outcomes after extracorporeal membrane oxygenation (ECMO) are little quantified and understood. We aimed to describe the frequency of kidney dysfunction screening during follow-up and the prevalence of long-term kidney disease.

Design: Retrospective cohort of pediatric ECMO patients with estimated glomerular filtration rate (eGFR) (mL/min/1.

Long G4-rich enhancers target promoters via a G4 DNA-based mechanism.

Several studies have now described instances where G-rich sequences in promoters and enhancers regulate gene expression through forming G-quadruplex (G4) structures. Relatedly, our group recently identified 301 long genomic stretches significantly enriched for minimal G4 motifs (LG4s) in humans and found the majority of these overlap annotated enhancers, and furthermore, that the promoters regulated by these LG4 enhancers are similarly enriched with G4-capable sequences. While the generally accepted model for enhancer:promoter specificity maintains that interactions are dictated by enhancer- and promoter-bound transcriptional activator proteins, the current study tested an alternative hypothesis: that LG4 enhancers interact with cognate promoters via a direct G4:G4 DNA-based mechanism.

Multi-Omic Characterization of Single Cells and Cell-Free Components Detected in the Cerebrospinal Fluid of Patients with Leptomeningeal Disease.

Background/objectives: Up to 30% of patients with breast cancers will develop brain or leptomeningeal metastases, and this risk is especially high with HER2-positive cancers. For patients with central nervous system metastases, cerebrospinal fluid (CSF) liquid biopsies are a promising opportunity to monitor disease, inform treatment, and predict prognosis. This pilot study investigated CSF liquid biopsy analytes from three patients diagnosed with central nervous system metastases based on imaging but not confirmed via clinical cytology.

MOGAD: A comprehensive review of clinicoradiological features, therapy and outcomes in 4699 patients globally.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is one of the most common antibody-mediated CNS disorders. Optimal diagnostic and prognostic biomarkers remain unclear. Our aim was to clarify these biomarkers and therapeutic outcomes internationally.

Pediatric Central Nervous System Embryonal Tumors: Presentation, Diagnosis, Therapeutic Strategies, and Survivorship-A Review.

Central nervous system (CNS) embryonal tumors represent a diverse group of neoplasms and have a peak incidence in early childhood. These tumors can be located anywhere within the CNS, and presenting symptoms typically represent tumor location. These tumors display distinctive findings on neuroimaging and are staged using magnetic resonance imaging of the brain and spine as well as evaluation of cerebrospinal fluid.

Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine.

Acute respiratory failure can cause profound hypoxaemia that leads to organ injury or death within minutes. When conventional interventions are ineffective, the intravenous administration of oxygen can rescue patients from severe hypoxaemia, but at the risk of microvascular obstruction and of toxicity of the carrier material. Here we describe polymeric microbubbles as carriers of high volumes of oxygen (350-500 ml of oxygen per litre of foam) that are stable in storage yet quickly dissolve following intravenous injection, reverting to their soluble and excretable molecular constituents.

ChatGPT Use Among Pediatric Health Care Providers: Cross-Sectional Survey Study.

Background: The public launch of OpenAI's ChatGPT platform generated immediate interest in the use of large language models (LLMs). Health care institutions are now grappling with establishing policies and guidelines for the use of these technologies, yet little is known about how health care providers view LLMs in medical settings. Moreover, there are no studies assessing how pediatric providers are adopting these readily accessible tools.

Automated detection of abnormal general movements from pressure and positional information in hospitalized infants.

Background: Prechtl's general movements assessment (GMA) allows visual recognition of movement patterns that, when abnormal (cramped synchronized, or CS), have very high sensitivity in predicting later neuromotor disorders; however, training requirements and subjective perceptions from some clinicians may hinder universal adoption of the GMA in the newborn period.

Methods: To address this, we used a three-phased approach to design a preliminary and clinically-oriented approach to automated CS GMA detection. 335 hospitalized infants were dually recorded on video and a pressure-sensor mat that collected time, spatial, and pressure data.

Editorial: Understanding Adolescent Mental Health Disparities Through the Lens of Environmental Stress Exposure.

Increasing evidence suggests that, as in other medical fields, there are pronounced pediatric mental health disparities with greater burden among marginalized racial and ethnic youth. The reasons for these disparities are not fully understood. One way to explain pediatric mental health disparities is through the lens of environmental stress as a driver of mental health burden, given that marginalized populations are exposed to more structural and individual stress.

Testing effectiveness and implementation of a standardized approach to sexual dysfunction screening among adolescent and young adult-aged survivors of childhood cancer: A type I hybrid, mixed methods trial protocol.

Background: Approximately 20-50% of adolescent and young adult-aged childhood cancer survivors (AYA-CCS) experience sexual dysfunction (SD), although this healthcare need is widely underrecognized. Previous research from both AYA-CCS patients and their providers report that SD needs are unaddressed despite patient desires for SD discussions to be incorporated as part of their care. Patients and providers agree that standardized use of a patient-reported outcome measure may facilitate SD discussions; an SD screening approach was developed with patient and provider input.

Assessment of the American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS™) with modification of the management recommendations for pediatric thyroid nodules.

Background: Thyroid nodules are unusual in children, but when present, they carry a higher risk for malignancy, as compared to adults. Several guidelines have been created to address the risk stratification for malignancy of thyroid nodules in adults, but none has been completely validated in children. A few authors have proposed lowering the size threshold to the American College of Radiology Thyroid Imaging, Reporting and Data System (ACR TI-RADS™) management guidelines to decrease missed carcinomas at presentation in children; however, little information is known regarding their accuracy.

Exploring Relations Between Unique Patient Characteristics and Virtual Reality Immersion Level on Anxiety and Pain in Patients Undergoing Venipuncture: Secondary Analysis of a Randomized Control Trial.

Background: Virtual reality (VR) is a well-researched digital intervention that has been used for managing acute pain and anxiety in pediatric patients undergoing various medical procedures. This study focuses on investigating the role of unique patient characteristics and VR immersion level on the effectiveness of VR for managing pediatric pain and anxiety during venipuncture.

Objective: The purpose of this study is to determine how specific patient characteristics and level of immersion during a VR intervention impact anxiety and pain levels for pediatric patients undergoing venipuncture procedures.

Comparative Single Vesicle Analysis of Aqueous Humor Extracellular Vesicles before and after Radiation in Uveal Melanoma Eyes.

Small extracellular vesicles (sEVs) have been shown to promote tumorigenesis, treatment resistance, and metastasis in multiple cancer types; however, sEVs in the aqueous humor (AH) of uveal melanoma (UM) patients have never previously been profiled. In this study, we used single particle analysis to characterize sEV subpopulations in the AH of UM patients by quantifying their size, concentration, and phenotypes based on cell surface markers, specifically the tetraspanin co-expression patterns of CD9, CD63, and CD81. sEVs were analyzed from paired pre- and post-treatment (brachytherapy, a form of radiation) AH samples collected from 19 UM patients.