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.

Third Proceedings of The North American Airway Collaborative (NoAAC): Consensus Statement on Trial Design for Airway Stenosis.

Importance: Airway stenosis is a rare but debilitating disorder that significantly degrades the quality of life in affected patients. Treatments are primarily surgical, and disease management lacks established medical therapies. The North American Airway Collaborative held its third symposium at The Johns Hopkins Hospital in Baltimore, Maryland, on April 15, 2024, focused on strategies to advance the care of these patients.

Prescriptions (Rx) for Prevention: Clinical Tools for Integrating Environmental Health into Pediatric Clinical Care.

The integration of environmental health (EH) into routine clinical care for children is in its early stages. The vision of pediatric EH is that all clinicians caring for children are aware of and able to help connect families to needed resources to reduce harmful environmental exposures and increase health-enhancing ones. Environmental exposures include air pollution, substandard housing, lead, mercury, pesticides, consumer products chemicals, drinking water contaminants, industrial facility emissions and, increasingly, climate change-related extreme weather and heat events.

Bullying Behaviors in Clinical Settings: Potentially Harmful Distractions.

Nursing students exposed to bullying behaviors are at risk for making medication errors. For a quasi-experimental study, 15 prelicensure nursing students at a Midwestern university were exposed to simulated bullying behaviors or common distractions while administering medications in a laboratory setting. Data were analyzed using Kruskal-Wallis tests.

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.

Lymph Node Staging and Treatment in Pediatric Patients With Soft Tissue Sarcomas: A Consensus Opinion from the Children's Oncology Group, European paediatric Soft tissue sarcoma Study Group, and the Cooperative Weichteilsarkom Studiengruppe.

Accurate staging of nodal involvement in pediatric sarcoma patients is important to determine correct systemic and local therapy, with the goal to reduce subsequent recurrences. However, differences in lymph node staging strategies, definitions, and treatment protocols between the Children's Oncology Group (COG), European paediatric Soft tissue sarcoma Study Group (EpSSG), and the Cooperative Weichteilsarkom Studiengruppe (CWS) complicate comparisons. In this article, we aim to establish internationally recognized recommendations for lymph node assessment and treatment of children and adolescents diagnosed with rhabdomyosarcoma (RMS) and non-rhabdomyosarcoma soft tissue sarcoma (NRSTS) according to the Consensus Conference Standard Operating Procedure methodology.

Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.

Miliarias are a group of eccrine disorders characterized by sweat retention due to the occlusion of eccrine ducts. Miliaria profunda is the rarest form of miliaria and occurs when eccrine ducts are obstructed at the dermal-epidermal junction. A granulomatous variant of centrifugal miliaria profunda classic findings of granulomatous infiltrate on histology and centrifugal expansion of deep nodules or plaques.

Intercellular mRNA transfer alters the human pluripotent stem cell state.

Intercellular transmission of messenger RNA (mRNA) is being explored in mammalian species using immortal cell lines. Here, we uncover an intercellular mRNA transfer phenomenon that allows for the adaptation and reprogramming of human primed pluripotent stem cells (hPSCs). This process is induced by the direct cell contact-mediated coculture with mouse embryonic stem cells under the condition impermissible for primed hPSC culture.

A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.

Primary Hypertrophic Osteoarthropathy (PHOAR1) is characterized by autosomal recessive loss of function variants in 15-hydroxyprostaglandin dehydrogenase (HPGD) leading to digital clubbing, periostosis, pachydermia, and severe hyperhidrosis. HPGD catalyzes the first step of prostaglandin E2 (PGE2) degradation. Selective COX-2 inhibitors have proved beneficial in adults, though it is unknown if early initiation of COX-2 inhibitors can alter the natural history of PHOAR1.

Prepancreatic postduodenal portal vein discovered in a pediatric patient undergoing total pancreatectomy with islet autotransplantation: a case report and review of literature.

Background: Prepancreatic postduodenal portal vein (PPPV) is a rare anatomic variant where the portal vein (PV) runs anterior to the pancreas and posterior to the duodenum. Only 20 cases of PPPV, all in adults, have been reported in literature. We report the first case of PPPV in a pediatric patient discovered intraoperatively during total pancreatectomy with islet autotransplantation (TPIAT) and the third known case in which the PPPV could be isolated intraoperatively.

Wellbeing and quality of life among parents of individuals with Fontan physiology.

Purpose: To examine global and health-related quality of life (QOL) among parents of individuals with Fontan physiology and determine associations with sociodemographic, parent and child-related health, psychological, and relational factors.

Methods: Parents participating in the Australian and New Zealand Fontan Registry (ANZFR) QOL Study (N = 151, Parent Mean age = 47.9 ± 10.

Pediatric Predictive Artificial Intelligence Implemented in Clinical Practice from 2010-2021: A Systematic Review.

Objective: To review pediatric artificial intelligence (AI) implementation studies from 2010-2021 and analyze reported performance measures.

Methods: We searched PubMed/Medline, Embase CINHAL, Cochrane Library CENTRAL, IEEE and Web of Science with controlled vocabulary.

Inclusion Criteria: AI intervention in a pediatric clinical setting that learns from data (i.

Opportunities to Improve Care Processes for Ventilator-Dependent Children: A Single-Center Study.

Objective: Children with chronic ventilator dependence are a complex and heterogeneous population with unique needs. We sought input from parents, clinicians, and hospital staff to identify opportunities for process improvement during hospitalization and discharge preparation.

Methods: We conducted a qualitative study at a large referral center for children with chronic ventilator dependence.

Interplay between pioneer transcription factors and epigenetic modifiers in cell reprogramming.

The generation of induced pluripotent stem cells (iPSCs) from differentiated somatic cells by Yamanaka factors, including pioneer transcription factors (TFs), has greatly reshaped our traditional understanding of cell plasticity and demonstrated the remarkable potential of pioneer TFs. In addition to iPSC reprogramming, pioneer TFs are pivotal in direct reprogramming or transdifferentiation where somatic cells are converted into different cell types without passing through a pluripotent state. Pioneer TFs initiate a reprogramming process through chromatin opening, thereby establishing competence for new gene regulatory programs.

Factors Influencing Adolescent COVID-19 Vaccination During the Omicron Surge.

While most adolescents experience mild-COVID-19 infection, those with underlying medical conditions have an increased risk of severe health outcomes. Furthermore, compared with other pediatric populations, adolescents have experienced higher rates of COVID-19-associated hospitalization. COVID-19 vaccine decision-making in adolescents during COVID-19 surges is not well understood.

Association between procedure duration and adverse events in congenital cardiac catheterization.

Background: Procedure duration is an important predictor of patient outcomes in surgery. However, the relationship between procedure duration and adverse events in congenital cardiac catheterization is largely unexplored.

Methods: All cases entered into the Congenital Cardiac Catheterization Project on Outcomes from 2014 to 2017 were included.

Performance of the pooled cohort equations and D:A:D risk scores among individuals with HIV in a global cardiovascular disease prevention trial: a cohort study leveraging data from REPRIEVE.

Background: Risk estimation is an essential component of cardiovascular disease prevention among people with HIV. We aimed to characterise how well atherosclerotic cardiovascular disease (ASCVD) risk scores used in clinical guidelines perform among people with HIV globally.

Methods: In this prospective cohort study leveraging REPRIEVE data, we included participants aged 40-75 years, with low-to-moderate traditional cardiovascular risk, not taking statin therapy.

Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success.

Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult-centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations, including youth with Turner syndrome (TS). Numerous barriers exist, at both the system and individual/family level.

Investigation of a Novel Noninvasive Risk Analytics Algorithm With Laboratory Central Venous Oxygen Saturation Measurements in Critically Ill Pediatric Patients.

Background: Accurate assessment of oxygen delivery relative to oxygen demand is crucial in the care of a critically ill patient. The central venous oxygen saturation (Svo) enables an estimate of cardiac output yet obtaining these clinical data requires invasive procedures and repeated blood sampling. Interpretation remains subjective and vulnerable to error.

PI5P4K inhibitors: promising opportunities and challenges.

Phosphatidylinositol 5-phosphate 4-kinases (PI5P4K), also known as type II PIPKs or PIPKIIs, convert the lipid second messenger PI5P to PI(4,5)P. The PI5P4K family consists of three isozymes in mammals-PI5P4Kα, β, and γ-which notably utilize both GTP and ATP as phosphodonors. Unlike the other two isozymes, which can utilize both ATP and GTP, PI5P4Kβ exhibits a marked preference for GTP over ATP, acting as an intracellular GTP sensor that alters its kinase activity in response to physiological changes in GTP concentration.

The ACTION VAD registry: A collective five-year experience.

Background: The Advanced Cardiac Therapies Improving Outcomes Network (ACTION) began in 2018 as a collaborative learning health system committed to improving outcomes in pediatric heart failure, including children and adults with congenital heart disease, supported with ventricular assist devices (VADs). This report describes patient and device characteristics, and outcomes through 1-year post-implant.

Methods: The ACTION VAD registry report was created from data submitted to the ACTION learning network from April 2018 to June 2023.

Prenatally Diagnosed Absent Septum Pellucidum and Septo-Optic Dysplasia: A Narrative Review and Practical Recommendations for Pediatric Neurologists.

Evaluation of the cavum septum pellucidum is required in standard second-trimester screening fetal anatomy ultrasound scans. The absence of septum pellucidum triggers further evaluation and referral for subspecialty counseling. Absence of septum pellucidum is linked to other midline anomalies including septo-optic dysplasia.

Longitudinal investigation of neurobiological changes across pregnancy.

Pregnancy is a period of profound biological transformation. However, we know remarkably little about pregnancy-related brain changes. To address this gap, we chart longitudinal changes in brain structure during pregnancy and explore potential mechanisms driving these changes.