Palovarotene in fibrodysplasia ossificans progressiva: review and perspective.

Introduction: Palovarotene is a retinoic acid receptor gamma agonist that was studied in phase-2 and phase-3 clinical trials for the inhibition of new heterotopic ossification (HO) in fibrodysplasia ossificans progressiva (FOP). Despite numerous setbacks and regulatory delays, palovarotene is now the first approved FOP treatment in the U.S.

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.

Long-term safety of lentiviral or gammaretroviral gene-modified T cell therapies.

Long-term risks of gene therapy are not fully understood. In this study, we evaluated safety outcomes in 783 patients over more than 2,200 total patient-years of observation from 38 T cell therapy trials. The trials employed integrating gammaretroviral or lentiviral vectors to deliver engineered receptors to target HIV-1 infection or cancer.

Transitioning from the safety of the womb to the outside world for neonates with life-threatening cardiovascular conditions: The IMmediate Postpartum Access to Cardiac Therapy (IMPACT) Procedure.

The IMmediate Postpartum Access to Cardiac Therapy (IMPACT) procedure is a multidisciplinary, collaborative, highly coordinated clinical service in which a planned delivery and intensive neonatal care are offered for conditions where there is a high likelihood of postnatal instability. This process includes prenatal consultation with the parent(s), involving each service engaged with the delivery, postnatal resuscitation, and procedural care. A Cesarean section delivery is planned in an operating room with immediate access to a multifunctional procedural suite where the neonate can undergo rapid cardiac evaluation and initiation of interventional treatments which can have a positive, life-saving impact.

Stabilizing Pediatric Patients During Psychiatric Boarding: A Quality Improvement Project.

Background And Objectives: Psychiatric boarding has implications for youth, their families, and hospital systems. We undertook a quality improvement (QI) project to address boarding at our institution. We aimed to stabilize patients who were boarding in our emergency department (ED) observation unit and to decrease the percentage of patients admitted to psychiatric facilities.

Parenchymal and Inflammatory Responses to Ozone Exposure in the Aging Healthy and Surfactant Protein C Mutant Lung.

Ozone (O) is a ubiquitous pollutant known to produce acute, transient inflammation through oxidative injury and inflammation. These effects are exacerbated in susceptible populations, such as the elderly and those exhibiting genetic mutations in central nodes of pulmonary function. To comprehend the impact of these predisposing factors, the present study examines structural, mechanical, and immunological responses to single acute O exposure (0.

Femur osteoid osteoma in children: are there location-dependent differences in MRI findings?

Background: Osteoid osteomas are most commonly found in the femur and preferentially affect the pediatric population. Magnetic resonance imaging (MRI) findings of femoral osteoid osteomas are not well described.

Objective: To systematically characterize pretreatment MRI findings of clinically confirmed femur osteoid osteomas in children and determine location-dependent differences.

Relationships Between Recent Adverse Childhood Experiences (ACEs) and Somatic Symptoms in Adolescence.

Early identification and interventions are imperative for mitigating the harmful effects of adverse childhood experiences (ACEs). Nonetheless, a substantial barrier persists in identifying adolescents experiencing ACEs. One understudied avenue for early identification of ACEs is through the examination of somatic symptoms endorsed by adolescents.

Development of a Brief Client Satisfaction and Quality Improvement Tool for Hospital-Based Violence Intervention Programs: Opportunities for Enhancing Client Perspectives.

Hospital-based violence intervention programs (HVIPs) are evidence-informed strategies to promote recovery among victims of violence. Limited tools exist to capture client-reported perspectives of program relevance, responsiveness, acceptability, and impact. We conducted a quality improvement project to develop an HVIP-specific tool that can be used to collect information regarding client satisfaction with services to inform ongoing and future program improvement efforts.

Proposed resources required for a comprehensive program for CCT CHD imaging.

Background: Cardiac Computed Tomography (CCT) is increasingly used for evaluation of congenital heart disease (CHD) in patients of all ages. Pediatric and adult congenital heart disease (ACHD) surgical programs require high quality CCT imaging as part of the multimodality imaging support expected of comprehensive care centers. Despite these expectations, there are no benchmarks or defined programmatic elements specific to the performance of CCT in patients with CHD.

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-June 2023.

Radiotherapy toxicities: mechanisms, management, and future directions.

For over a century, radiotherapy has revolutionised cancer treatment. Technological advancements aim to deliver high doses to tumours with increased precision while minimising off-target effects to organs at risk. Despite advancements such as image-guided, high-precision radiotherapy delivery, long-term toxic effects on healthy tissues remain a great clinical challenge.

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.

Primary Antibody Deficiencies: Curation Of Gene-Disease Relationships Using A ClinGen Validation Framework.

Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted.

International Expert-Based Consensus Definition, Classification Criteria, and Minimum Data Elements for Osteoradionecrosis of the Jaw: An Inter-Disciplinary Modified Delphi Study.

Purpose: Osteoradionecrosis of the jaw (ORNJ) is a severe iatrogenic disease characterized by bone death after radiation therapy (RT) to the head and neck. With over 9 published definitions and at least 16 classification systems, the true incidence and severity of ORNJ are obscured by lack of a standard for disease definition and severity assessment, leading to inaccurate estimation of incidence, reporting ambiguity, and likely under-diagnosis worldwide. This study aimed to achieve consensus on an explicit definition and phenotype of ORNJ and related precursor states through data standardization to facilitate effective diagnosis, monitoring, and multidisciplinary management of ORNJ.

Tracheobronchopexy to Avoid Tracheostomy in Esophageal Atresia Patients With Severe Life-Threatening Tracheobronchomalacia.

Background: Esophageal atresia (EA) is associated with tracheobronchomalacia (TBM), which in its most severe form, causes blue spells, brief resolved unexplained events (BRUEs) that can require cardiopulmonary resuscitation (CPR), and positive pressure ventilation (PPV) or ventilator dependence, often requiring tracheostomy. We study the role of tracheobronchopexy, as an alternative to tracheostomy, in EA patients with severe life-threatening TBM.

Methods: We reviewed EA patients who underwent tracheobronchopexy for blue spells, BRUEs, and failure to wean PPV or extubate from February 2013 to September 2021 at two institutions.

Peripheral T-Cell Lymphoma-NOS in Children and Adolescents: a Review from the Children's Oncology Group NHL Committee.

Peripheral T-cell lymphoma-not otherwise specified (PTCL-NOS) is a rare mature T-cell non-Hodgkin lymphoma (NHL) seen in both children and adults. While it is the most common non-anaplastic mature T-cell lymphoma of childhood, it is quite rare and therefore, the standard of care remains largely undefined. It is a disease characterized by clinical and pathological heterogeneity and is generally associated with an aggressive clinical course and poor prognosis in adults.

Lineage-dependence of the neuroblastoma surfaceome defines tumor cell state-dependent and independent immunotherapeutic targets.

Background: Neuroblastoma is a heterogeneous disease with adrenergic (ADRN)- and therapy resistant mesenchymal (MES)-like cells driven by distinct transcription factor networks. Here, we investigate the expression of immunotherapeutic targets in each neuroblastoma subtype and propose pan-neuroblastoma and cell state specific targetable cell-surface proteins.

Methods: We characterized cell lines, patient-derived xenografts, and patient samples as ADRN-dominant or MES-dominant to define subtype-specific and pan-neuroblastoma gene sets.

Impacts of Ethical Dilemmas and Moral Distress in Pediatric Hematology Oncology Nurses.

Purpose: To assess the level of moral distress (MD) and perceptions of ethical climate among pediatric hematology/oncology (PHO) nurses and to identify bioethics topics where increased education was desired.

Methods: In this cross-sectional study, we administered the 26-item Swedish Moral Distress Scale-Revised (sMDS-R), specifically revised and validated for pediatric oncology, in conjunction with the Clinical Ethics Needs Assessment Survey (CENAS). Electronic surveys were sent to inpatient and outpatient PHO nurses.

An image dataset for surveillance of personal protective equipment adherence in healthcare.

Proper personal protective equipment (PPE) use is critical to prevent disease transmission to healthcare providers, especially those treating patients with a high infection risk. To address the challenge of monitoring PPE usage in healthcare, computer vision has been evaluated for tracking adherence. Existing datasets for this purpose, however, lack a diversity of PPE and nonadherence classes, represent single not multiple providers, and do not depict dynamic provider movement during patient care.

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy.

Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.

Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.

Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.

Control of striatal circuit development by the chromatin regulator .

The pathophysiology of neurodevelopmental disorders involves vulnerable neural populations, including striatal circuitry, and convergent molecular nodes, including chromatin regulation and synapse function. Despite this, how epigenetic regulation regulates striatal development is understudied. Recurrent de novo mutations in are associated with intellectual disability and autism.