Diagnostic testing for hemophagocytic lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome caused by severe systemic hyperinflammation. HLH can be rapidly fatal if unrecognized or inadequately treated. It is important that clinicians are able to utilize diagnostic testing to assess for HLH and determine the underlying causes including possible inborn errors of immunity (IEI).

Raman spectroscopic probe provides optical biomarkers of cartilage composition predictive of tissue function.

Objective: The diagnosis of early osteoarthritis when therapeutic interventions may be most effective at reversing cartilage degeneration presents a clinical challenge. We describe a Raman arthroscopic probe and spectral analysis that measures biomarkers reflective of the content of predominant cartilage extracellular matrix (ECM) constituents-glycosaminoglycans (GAG), collagen, water-essential to cartilage function. We compare the capability of Raman-probe-derived biomarkers to predict functional properties of cartilage to quantitative MRI and histopathology assessments.

Antiseizure medications for Lennox-Gastaut Syndrome: Comprehensive review and proposed consensus treatment algorithm.

Lennox-Gastaut syndrome (LGS) is a severe, childhood-onset developmental and epileptic encephalopathy characterized by multiple drug-resistant seizure types, specific electroencephalogram (EEG) patterns, and significant cognitive and behavioral impairments. To date, eight anti-seizure medications (ASMs) have been specifically approved by the U.S.

Paediatric strategy forum for medicinal product development in diffuse midline gliomas in children and adolescents ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration.

Fewer than 10 % of children with diffuse midline glioma (DMG) survive 2 years from diagnosis. Radiation therapy remains the cornerstone of treatment and there are no medicinal products with regulatory approval. Although the biology of DMG is better characterized, this has not yet translated into effective treatments.

Tau Pathology Drives Disease-Associated Astrocyte Reactivity in Salt-Induced Neurodegeneration.

Dietary high salt intake is increasingly recognized as a risk factor for cognitive decline and dementia, including Alzheimer's disease (AD). Recent studies have identified a population of disease-associated astrocytes (DAA)-like astrocytes closely linked to amyloid deposition and tau pathology in an AD mouse model. However, the presence and role of these astrocytes in high-salt diet (HSD) models remain unexplored.

Circulating and Magnetic Resonance Imaging Biomarkers of Intestinal Fibrosis in Small Bowel Crohn's Disease.

Background: We previously identified circulating and MRI biomarkers associated with the surgical management of Crohn's disease (CD). Here we tested associations between these biomarkers and ileal resection inflammation and collagen content.

Methods: Fifty CD patients undergoing ileal resection were prospectively enrolled at 4 centers.

Lessons Learned in Virtual Launch of an Antenatal Opioid Exposure Study During the COVID-19 Pandemic.

Background: The COVID-19 pandemic prompted researchers to develop new ways to design and launch studies and recruit and retain participants. Pregnant women and infants are considered vulnerable populations in research, and families affected by substance use are particularly difficult to recruit and retain. Recruitment for studies involving medical technologies such as MRI can also be difficult due to misconceptions and fear of the technologies.

A Nanoparticle Comprising the Receptor-Binding Domains of Norovirus and as a Combination Vaccine Candidate.

Background: Noroviruses, which cause epidemic acute gastroenteritis, and parasites, which lead to malaria, are two infectious pathogens that pose threats to public health. The protruding (P) domain of norovirus VP1 and the αTSR domain of the circumsporozoite protein (CSP) of sporozoite are the glycan receptor-binding domains of the two pathogens for host cell attachment, making them excellent targets for vaccine development. Modified norovirus P domains self-assemble into a 24-meric octahedral P nanoparticle (P NP).

Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy.

Background: Females with hypertrophic cardiomyopathy present at a more advanced stage of the disease and have a higher risk of heart failure and death. The factors behind these differences are unclear. We aimed to investigate sex-related differences in clinical and genetic factors affecting adverse outcomes in the Sarcomeric Human Cardiomyopathy Registry.

High-risk clones harboring β-lactamases: 2024 update.

Carbapenem-resistant is defined by the World Health Organization as a "high priority" in developing new antimicrobials. Indeed, the emergence and spread of multidrug-resistant (MDR) or extensively drug-resistant (XDR) bacteria increase the morbidity and mortality risk of infected patients. Genomic variants of that display phenotypes of MDR/XDR have been defined as high-risk global clones.

October 2024 ACIP Meeting Update: Influenza, COVID-19, RSV and Other Vaccines.

The Advisory Committee on Immunization Practices (ACIP), a group of medical and public health experts that provides advice to the Centers for Disease Control and Prevention, normally meets 3 times per year to develop US vaccine recommendations. The ACIP met October 23-24, 2024, to discuss influenza vaccines, chikungunya vaccines, coronavirus disease (COVID-19) vaccines, RSV immunizations, meningococcal vaccines, human papillomavirus (HPV) vaccines, pneumococcal vaccines, and adult and child/adolescent immunization schedule revisions. This update summarizes the proceedings of these meetings, with an emphasis on topics that are most relevant to the pediatric population.

Alkaline urine is associated with increased risk of calcium phosphate nephrolithiasis in medically complex children receiving enteral nutrition.

Introduction: Calcium phosphate stones are commonly found in medically complex children (MCC) receiving enteral feeds. The objective of this study is to investigate the etiology for calcium phosphate stones in this patient population.

Study Design: This is a retrospective cohort study of gastrostomy fed, MCC who presented to a high-volume Pediatric Stone Center from 2015 to 2019.

Practice patterns for acquiring neuroimaging after pediatric in-hospital cardiac arrest.

Aims: To determine which patient and cardiac arrest factors were associated with obtaining neuroimaging after in-hospital cardiac arrest, and among those patients who had neuroimaging, factors associated with which neuroimaging modality was obtained.

Methods: Retrospective cohort study of patients who survived in-hospital cardiac arrest (IHCA) and were enrolled in the ICU-RESUS trial (NCT02837497).

Results: We tabulated ultrasound (US), CT, and MRI frequency within 7 days following IHCA and identified patient and cardiac arrest factors associated with neuroimaging modalities utilized.

Lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension.

Vascular inflammation regulates endothelial pathophenotypes, particularly in pulmonary arterial hypertension (PAH). Dysregulated lysosomal activity and cholesterol metabolism activate pathogenic inflammation, but their relevance to PAH is unclear. Nuclear receptor coactivator 7 () deficiency in endothelium produced an oxysterol and bile acid signature through lysosomal dysregulation, promoting endothelial pathophenotypes.

Comparison of the Ease-of-use and Preference Between Two Aromatherapy Delivery Methods in the Perioperative Setting.

Purpose: Nurses at the study hospitals had implemented aromatherapy as an evidence-based intervention to alleviate nausea, pain, and anxiety in patients in the perioperative setting. Initially, they were approved to administer aromatherapy using large, multidose bottles with gauze as the method of delivery; however, nurses recognized that there were many disadvantages to using this method. This led to a nurse-driven initiative to create a new delivery method for aromatherapy with the aid of the Center for Innovation at the organization.

Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.

Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.

Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.

Staged thoracoscopic internal traction approach for early repair of long-gap esophageal atresia (LGEA) with distal tracheoesophageal fistula (TEF).

Background: Long-gap esophageal atresia (LGEA) can complicate the management of esophageal atresia (EA) with or without a tracheoesophageal fistula (TEF). This series describes a short interval, staged, thoracoscopic internal traction approach for LGEA with distal TEF to manage complex anastomotic tension or an anatomically impossible esophageal anastomosis.

Methods: A retrospective review (2018-2024) was performed across four tertiary centers to identify patients with LGEA and distal TEF, managed with a staged, thoracoscopic internal traction approach.

Clinical outcomes of switching to lonapegsomatropin from somatropin for treatment of pediatric growth hormone deficiency.

Objectives: This study aimed to assess differences in insulin-like growth factor 1 (IGF-1) levels following the transition from somatropin to lonapegsomatropin in patients with pediatric growth hormone deficiency (GHD). Secondary objectives included the evaluation of dose titrations based on IGF-1 levels, changes in annualized height velocity (AHV) and body mass index (BMI), and assessing reported adverse effects associated with lonapegsomatropin therapy.

Methods: A single-center, retrospective review was conducted including patients diagnosed with pediatric GHD initially treated with somatropin who transitioned to lonapegsomatropin between January 1, 2022, and December 31, 2023.

Use of "Bug-in-the-Ear" Technology in Improving Pediatric Residents' Skills in Diagnosis and Treatment of ADHD.

Objective: To improve pediatric residents' skills in the diagnosis and treatment of children with ADHD by giving real-time feedback utilizing Bug-in-the-Ear technology (BIE).

Methods: This prospective, controlled study had 2 treatment groups and 3 standardized patient (SP) sessions. Session-1 was baseline.

The Kinesin Kar3 is Required for Endoplasmic Reticulum-Associated Degradation.

Degradation of aberrant, excess, and regulatory proteins at the endoplasmic reticulum (ER) is a conserved feature of eukaryotic cells, disruption of which contributes to disease. While remarkable progress has been made in recent years, mechanisms and genetic requirements for ER-Associated Degradation (ERAD) remain incompletely understood. We recently conducted a screen for genes required for turnover of a model ER translocon-associated substrate of the Hrd1 ubiquitin ligase in .

The Transition to Kindergarten for Hispanic and Latine Autistic Children: A Focus Group Study with Caregivers.

Purpose: Past research highlights the different facilitators and barriers that caregivers of children on the autism spectrum experience during the transition to kindergarten and when navigating special education services. Caregivers who identify as Hispanic and/or Latine may face distinct challenges during this process, such as language differences, differences in understanding autism and special education, and barriers to advocating for their child. Hispanic and Latine caregivers also have strengths, resources, and strategies (i.

Spleen stiffness in a healthy pediatric population undergoing liver magnetic resonance elastography.

Background: Splenic stiffness is a potential imaging marker of portal hypertension. Normative spleen stiffness values are needed to define diagnostic thresholds.

Objective: To report stiffness measurements of the spleen in healthy children undergoing liver magnetic resonance (MR) elastography across MRI vendors and field strengths.