Section
This report discusses four patients with paternally inherited 15q11.2-q13 duplications linked to MKRN3 overexpression, presenting with delayed puberty and varying degrees of hypogonadism.
This study demonstrates that higher airway opening index (AOI), measured by capnography during pediatric CPR, correlates with improved survival and neurological outcomes. AOI is a novel, quantitative marker of airway patency linked to post-
An international study of 715 pediatric patients with differentiated thyroid carcinoma identifies key predictors of invasive disease and demonstrates stable outcomes despite recent therapy deintensification.
This study analyzes the rising incidence and prevalence of non-infectious pediatric uveitis in the United States, detailing demographic distributions, ocular complications, systemic associations, and treatment patterns from 2016 to 2025 usi
This study identifies an IL-17A/PTGS2/NLRP3 signaling axis as a key driver of immune suppression and myeloproliferation in PTPN11-mutant JMML, demonstrating that combined inflammasome and PTGS2 inhibition with MEK blockade improves survival
Longitudinal EEG analysis in infants with CDKL5 deficiency disorder reveals progressive background abnormalities and specific seizure phenotypes correlating with developmental severity within the first two years of life.
A retrospective Lebanese study finds a 2.65% prevalence of post-tonsillectomy hemorrhage, predominantly secondary bleeding, with adult age as the key independent risk factor, underscoring tailored postoperative care.
This article reviews a validated machine learning decision-tree model using LC-MS/MS steroid profiles to accurately and rapidly diagnose congenital disorders of adrenal steroidogenesis (CDAS), enhancing clinical decision-making and patient
This study reveals early establishment of a diverse naïve B-cell receptor repertoire within 3 months post-pediatric HSCT, followed by gradual antigen-experienced maturation over 24 months, reflecting physiological B-cell development and sup
Comprehensive exome sequencing reveals genetic heterogeneity in persistent tachypnea of infancy (PTI/NEHI), highlighting its phenotype nature and association with neurodevelopmental disorders, advocating early genetic testing to enhance dia
This article explores how cohesin mutations impair HLA-class II gene expression, contributing to leukemic progression from transient abnormal myelopoiesis to myeloid leukemia in children with Down syndrome.
This study evaluates the outcomes and critical factors influencing the success of tisagenlecleucel therapy for children and young adults with B-cell acute lymphoblastic leukemia relapsing after hematopoietic stem cell transplant across Euro
This study evaluates vessel wall MRI (VW-MRI) in pediatric arterial ischemic stroke, highlighting its diagnostic role in detecting inflammatory arteriopathies but limited prognostic value for long-term outcomes.
Rapid immunoassay-based classifiers accurately identify hyper- and hypoinflammatory subphenotypes in critically ill children, preserving prognostic and predictive utility and enabling precision therapies in acute pediatric cardiorespiratory
Pediatric mental health ED visits in the US have surged 2016-2022, exhibiting volume-dependent disparities in patient demographics and diagnoses, highlighting opportunities for tailored interventions to enhance care across diverse emergency
This study identifies unilateral hearing loss, older age, and insurance status as key factors associated with poor adherence to bone conduction hearing devices in children with microtia, emphasizing the critical role of routine monitoring o
The PROTECT trial’s per-protocol analysis confirms teplizumab’s efficacy in preserving beta cell function, reducing insulin needs, and improving glycemic control in children and adolescents newly diagnosed with stage 3 type 1 di
A prospective study reveals that ultra-rare cardiomyopathy gene variants significantly increase risk for early heart failure in infants with hypoplastic left heart syndrome, highlighting potential for genetic risk stratification and precisi
This study evaluates the long-term sinonasal health and quality of life in children after removal of button batteries or magnets from the nose, highlighting favorable outcomes with prompt intervention and need for extended monitoring in sym
This study reveals that individuals with Congenital Adrenal Hyperplasia (CAH) experience early, frequent, and complex hospitalizations with higher risk of severe outcomes, especially in infancy, compared to non-CAH patients, emphasizing the
