DNTT-mediated DNA Damage Response Drives Inotuzumab Ozogamicin Resistance in B-cell Acute Lymphoblastic Leukemia.

Inotuzumab Ozogamicin (InO) is an antibody-calicheamicin conjugate with striking efficacy in B-cell acute lymphoblastic leukemia (B-ALL). However, there is wide inter-patient variability in treatment response, and the genetic basis of this variation remains largely unknown. Using a genome-wide CRISPR screen, we discovered the loss of DNTT as a primary driver of InO resistance.

Retroperitoneal Teratoma in a Newborn: A Case Report and Diagnostic Insights.

Retroperitoneal teratomas are rare neoplasms in neonates, presenting with nonspecific symptoms and variable clinical features, making diagnosis challenging. Radiological investigations, particularly fetal ultrasound and contrast-enhanced computed tomography, play a critical role in their detection. Differential diagnoses include neuroblastoma, adrenal hemorrhage, and congenital cystic lesions, which share overlapping clinical and imaging features.

Antimelanoma differentiation-associated gene 5 (anti-MDA5) antibody-positive dermatomyositis: clinical features and outcomes in a racially diverse patient cohort.

Background: The anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody-positive dermatomyositis is known for its association with rapidly progressive interstitial lung disease (RP-ILD) and ulcerative skin lesions, often presenting with or without muscle involvement. The aim of this study was to identify distinct clinical and laboratory features that could be used to evaluate disease progression in an ethnically diverse cohort of anti-MDA5 dermatomyositis patients at a U.S.

Inhibition of DKK-1 by WAY262611 Inhibits Osteosarcoma Metastasis.

Osteosarcoma (OS) is the most common primary malignant bone tumor in childhood. Patients who present with metastatic disease at diagnosis or relapse have a very poor prognosis, and this has not changed over the past four decades. The Wnt signaling pathway plays a role in regulating osteogenesis and is implicated in OS pathogenesis.

Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.

Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic, splenic, and lipoprotein phenotypes in ASMD and GD1.

Reliability and Validity of the Turkish Version of Early-Onset Scoliosis Self-Report Questionnaire.

Objective: Early-Onset Scoliosis Self-Report Questionnaire (EOSQ-SELF) is a recently developed self-reported questionnaire based on the widely adopted Early-Onset Scoliosis Questionnaire and evaluates health-related quality of life in children with early-onset scoliosis over 8 years of age. To date, the questionnaire does not have a validated version in Turkish. The aim of this study was to translate EOSQ-SELF into Turkish and evaluate its reliability and validity.

ASTHMAXcel perception: a mobile health application for training in the perception of airflow limitation.

Objective: ASTHMAXcel Perception is an expansion of prior ASTHMAXcel mobile health applications for children with asthma. ASTHMAXcel Perception was evaluated for its ability to improve asthma control and perception of airflow limitation.

Methods: Patients with asthma ages 15-21 were randomized to receive ASTHMAXcel Perception with peak expiratory flow (PEF) feedback or usual care (UC).

Brugada Syndrome and Kawasaki Disease in a Two-Year-Old: A Case of Double Jeopardy.

Brugada syndrome (BrS) is a genetic channelopathy that may predispose to ventricular arrhythmia. It is inherited as an autosomal dominant pattern with incomplete penetrance. Fever can unmask Brugada syndrome in children who have a genetic predisposition.

Efficacy of parenteral bronchodilators on ventilatory outcomes in pediatric critical asthma: a national cohort study.

To evaluate the association of parenteral epinephrine and terbutaline use on ventilatory support in children admitted to the intensive care unit (ICU) with critical asthma in the United States. Data were obtained from the Pediatric Health Information System data base for children ages 2 to 18 years admitted to the ICU with a diagnosis of asthma exacerbation from January 1, 2016, to December 31, 2023. The primary outcomes included noninvasive ventilation (NIV) and/or invasive mechanical ventilation (IMV) use after receipt of terbutaline and/or epinephrine.

EMS Pediatric Trauma Transport: Do Disparities Exist?

Introduction: Trauma is the leading cause of disability and death among children in the United States. Optimal outcomes are achieved at pediatric trauma centers (PTCs), which are specialized to address the unique needs of this population. Disparities in trauma have been reported, affecting optimal delivery of care.

Increasing Premedication for Neonatal Intubation: A Quality Improvement Initiative.

Introduction: Endotracheal intubation is frequent in the neonatal intensive care unit (NICU) but may result in neonatal distress and instability. Premedication reduces adverse effects, such as hypoxia, bradycardia, and pain. The Specific, Measurable, Achievable, Relevant and Time-Bound aim for this project was to increase premedication use for nonemergent neonatal intubation in a specific NICU from 22% to 80% from March 2021 to May 2023.

Optimizing Ewing Sarcoma and Osteosarcoma Biopsy Acquisition: A Children's Oncology Group Bone Tumor Committee Consensus Statement.

Trends in diagnostic biopsy sample collection approaches for primary bone sarcomas have shifted in the past 2 decades. Although open/incisional biopsies used to be the predominant approach to obtain diagnostic material for Ewing sarcoma and osteosarcoma, image-guided core needle biopsies have increased in frequency and are safe for patients. These procedures are less invasive and reduce recovery times but have potential limitations.

Comparing adolescent glomerular disease clinical outcomes to the clinical outcomes in childhood, young adult, and adult-onset glomerular disease in the CureGN database.

Background: There is a lack of evidence to suggest that outcomes of adolescent and adult-onset glomerular disease differ. Still, most glomerular disease trials include adults but exclude adolescents.

Methods: We designed a retrospective study using the CureGN database to compare individuals with adolescent-onset glomerular disease relative to individuals with older and younger age at onset.

The COVID-19 pandemic and asthma management: a family caregiver perspective.

Objective: Previously the epicenter of the COVID-19 pandemic in New York, the Bronx has one of the highest prevalence rates of pediatric asthma in the United States. Pandemic mitigation efforts altered asthma management practices in at-home and clinical settings. We were interested in identifying family caregiver-reported barriers to asthma management during the COVID-19 pandemic to optimize care for Bronx children with asthma.

is implicated in central nervous system, orofacial and maxillofacial anomalies.

Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.

Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.

International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.

Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.

Smoking carcinogen induced inflammation promotes lung carcinogenesis via IRAK4 activation.

Purpose: Even though smoking is associated with lung cancer, the exact molecular pathways that link carcinogens with inflammation and oncogenic transformation are not well elucidated. Two major carcinogens in cigarette smoke, Nicotine-derived nitrosamine ketone, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) and benzo(α)pyrene (BaP) have not been tested in models that mimic inhaled exposure for prolonged periods of time.

Experimental Design: ICR mice were treated with intratracheal delivery of NNK and BaP (NB) for 18 months.

Neuroanatomical and pharmaco-physiological effects of hypoxia and esketamine on breathing, the sympathetic nerve system, and cortical function.

Acute hypoxic ventilatory response is an important reflex that helps maintain breathing during low oxygen levels, but it is attenuated by most general anaesthetics. Analgesic doses of ketamine and esketamine are known to have respiratory stimulant effects. In their recent study in the British Journal of Anaesthesia, Jansen and colleagues show that low-dose esketamine preserved the acute hypoxic ventilatory response, while increasing breathing rate, systolic blood pressure, and heart rate.

Incorporating Climate Change Education Into Residency: A Focus on Community Risks and Resources.

Background: Graduate medical education (GME) focused on climate change (CC) health effects is essential. However, few CC education evaluations exist to guide residency programs looking to implement CC content.

Objective: To evaluate the effect of an education session on residents' self-reported knowledge of CC health effects and confidence utilizing local CC anticipatory guidance and community resources with patients.

Efficacy and Safety of Dupilumab in Children With Peanut Allergy: A Multicenter, Open-Label, Phase II Study.

Background: Peanut allergy is a potentially life-threatening food allergy in children. This study explored whether dupilumab, a human monoclonal immunoglobulin (Ig)G4 antibody that blocks the activity of interleukin (IL)-4/IL-13, improved safety and desensitization to peanut exposure in children with peanut allergy.

Methods: A Phase II, 24-week, multicenter, single-arm, open-label, proof-of-concept study was conducted in the USA and Canada (NCT03793608).

Feasibility of Utilizing a Brief Neurocognitive Battery in 3-Year-Old Patients During Treatment for Acute Lymphoblastic Leukemia.

Treatment of acute lymphoblastic leukemia (ALL) is associated with neurocognitive deficits in young children. While computerized measures have been utilized in pediatric oncology research, they exclude patients below the age of 4 years. Patients enrolled on "Treatment of Newly Diagnosed Acute Lymphoblastic Leukemia in Children and Adolescents" were offered participation in an optional neurocognitive study.

A comparative analysis of microsurgical resection versus stereotactic radiosurgery for Spetzler-Martin grade III arteriovenous malformations: A multicenter propensity score matched study.

Background: Spetzler-Martin (SM) Grade III brain arteriovenous malformations (BAVMs) represent a transitional risk zone between low- and high-grade BAVMs, characterized by diverse angioarchitecture. The primary treatment options are endovascular embolization, microsurgical resection (MS), and stereotactic radiosurgery (SRS). This study compares the efficacy and outcomes of MS and SRS.