A US-Based Consensus on Diagnostic Overlap and Distinction for Pediatric Feeding Disorder and Avoidant/Restrictive Food Intake Disorder.

Objective: As diagnoses covering dysfunctional feeding and eating in pediatrics, avoidant/restrictive food intake disorder (ARFID) and pediatric feeding disorder (PFD) contain inherent areas of overlap in their diagnostic criteria. Areas of overlap include criteria regarding nutritional consequences associated with feeding/eating dysfunction and shared emphasis on possible psychosocial impairment associated with restricted food intake. Complicating the differential diagnosis process is a lack of guidance regarding when the two conditions occur independently, co-qualify, and/or transition into the other.

Pulmonary vasodilator use in very preterm infants in United States children's hospitals.

Objectives: To describe common pulmonary vasodilators (PV), exposure timing, and characteristics associated to their use in very preterm (VP) infants.

Study Design: Observational study of VP infants discharged from U.S.

Unusual variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets.

X-linked hypophosphatemic rickets (XLH), the most common form of hereditary rickets, is characterized by renal phosphate wasting and abnormal vitamin D metabolism due to elevated circulating levels of the phosphatonin fibroblast growth factor 23 (FGF23). Dominant inactivating variants of the phosphate regulating endopeptidase homolog, X-linked (), gene are present in patients with XLH, and more than half of affected patients carry de novo variants. We report on 3 families in whom affected members had highly unusual pathogenic variants.

Spatial regulation of NSUN2-mediated tRNA m5C installation in cognitive function.

Enzyme-mediated modifications of tRNA, such as 5-methylcytosine (m5C) installed by nuclear-enriched NOP2/Sun RNA methyltransferase 2 (NSUN2), play a critical role in neuronal development and function. However, our understanding of these modifications' spatial installation and biological functions remains incomplete. In this study, we demonstrate that a nucleoplasm-localized G679R NSUN2 mutant, linked to intellectual disability, diminishes NSUN2-mediated tRNA m5C in human cell lines and Drosophila.

Chest and spinal disease in patients with progressive neuromuscular disease.

The chest and spine deformity in neuromuscular disease (NMDz) can impact respiratory mechanics and pulmonary function by changing the orientation of the muscles and joints of the respiratory system and placing them in a mechanically unfavorable position. This increases mechanical load on weak respiratory muscles and eventually can cause respiratory failure. Therefore, chest and spine deformity in NMDz will both lead to increased respiratory "load" and decreased respiratory muscle "pump", an exceptionally bad combination.

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes.

Copy-number variants (CNVs) that increase the risk for neurodevelopmental disorders also affect cognitive ability. However, such CNVs remain challenging to study due to their scarcity, limiting our understanding of gene-dosage-sensitive biological processes linked to cognitive ability. We performed a genome-wide association study (GWAS) in 258,292 individuals, which identified-for the first time-a duplication at 2q12.

Regulating IL-2 Immune Signaling Function Via A Core Allosteric Structural Network.

Human interleukin-2 (IL-2) is a crucial cytokine for T cell regulation, with therapeutic potential in cancer and autoimmune diseases. However, IL-2's pleiotropic effects across different immune cell types often lead to toxicity and limited efficacy. Previous efforts to enhance IL-2's therapeutic profile have focused on modifying its receptor binding sites.

Factors Associated With Return to Activity After Concussion Among Female Service Academy Members: Findings From the NCAA-DoD CARE Consortium.

Introduction: Service academy members are at high risk for concussions as a result of participation in both sports and military-specific training activities. Approximately 17% of active duty service members are female, and they face unique challenges in achieving timely recovery from concussions. Understanding the unique characteristics affecting return to unrestricted activity (RTA) among female service academy members is imperative for the ever-growing proportion of females across the U.

An activating CaSR variant with biased signaling reveals a critical residue for Gα11 coupling.

Autosomal dominant hypocalcemia (ADH) is due to enhanced calcium-dependent signaling caused by heterozygous gain-of-function (GOF) variants in the CASR gene (ADH1) or in the GNA11 gene, encoding Gα11 (ADH2). Both ADH1 and ADH2 are associated with hypocalcemia and normal or inappropriately low levels of circulating PTH. ADH1 patients typically manifest hypercalciuria, while ADH2 is associated with short stature in approximately 42% of cases.

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.

Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.

Gender representation in cardiothoracic surgical academia: a call to support women across the globe.

Underrepresentation of women in surgical specialties persists, especially in academic leadership roles. Efforts to better understand disparities and support women cardiothoracic surgeons are ongoing.

Machine learning derived physical activity in preschool children with developmental coordination disorder.

Aim: To compare the device-measured physical activity behaviours of preschool children with typical motor development to those with probable developmental coordination disorder (pDCD) and at risk for developmental coordination disorder (DCDr).

Method: A total of 497 preschool children (4-5 years) in the Coordination and Activity Tracking in CHildren (CATCH) study completed repeated motor assessments and wore an ActiGraph GT3X on the right hip at baseline for 1 week. We calculated physical activity metrics from raw accelerometer data using a validated random forest classification machine learning model for preschool-age children.

An erythroid-specific lentiviral vector improves anemia and iron metabolism in a new model of XLSA.

X-linked sideroblastic anemia (XLSA) is a congenital anemia caused by mutations in ALAS2, a gene responsible for heme synthesis. Treatments are limited to pyridoxine supplements and blood transfusions, offering no definitive cure except for allogeneic hematopoietic stem cell transplantation, only accessible to a subset of patients. The absence of a suitable animal model has hindered the development of gene therapy research for this disease.

Development of Prediction Models for Severe Pain and Urinary Symptoms After Ureteroscopy With Ureteral Stent Placement: Results From the STENTS Study and Initial Validation of Pain Interference.

Purpose: We developed prediction models for severe pain and urinary symptoms after ureteroscopy with ureteral stent placement.

Materials And Methods: The development cohort included 424 adults and adolescents enrolled in the multicenter STENTS prospective cohort study who underwent ureteroscopy with stent placement for urinary stones. The validation cohort was an independent prospective cohort of 115 adults.

Who is the PROM King? Patient-reported Outcome Measures in Pediatric Musculoskeletal Oncology: A Systematic Review.

Background: Patient-reported outcome measures (PROMs) are important companions to traditional, physician-reported measures. The purpose of this study was to systematically review and identify PROMs used in pediatric musculoskeletal oncology and evaluate these instruments.

Methods: A systematic literature review was conducted for studies pertaining to pediatric musculoskeletal tumors from 2010 to 2024.

Pregnancy outcomes in adolescent and young adult patients with multiple sclerosis: A case series.

Background: While there is increasing understanding of the effect of pregnancy on the clinical course of multiple sclerosis (MS), there are limited studies focused on younger populations.

Cases: We report neurologic and obstetric outcomes for 14 pregnancies from 11 adolescent and young adult female patients with pediatric-onset MS who delivered live births prior to age 26, and describe their relevant social determinants of health.

Conclusion: Neurologic and obstetric outcomes in this cohort were generally good.

Targeted medical therapies for vascular anomalies.

The last 2 decades of genetic discovery in the field of vascular anomalies have brought targeted medical therapies to the forefront of care patients with vascular anomalies and have broadened the role of hematologists/oncologists in this field. Many vascular anomalies have now been identified to be driven by somatic gain-of-function variants in the PI3K/AKT/ mTOR and Ras/MAPK intracellular signaling pathways. This has led to the introduction of various antiangiogenic agents that inhibit these pathways.

Response of health-related quality of life following pediatric/congenital cardiac catheterization procedures.

Background: Health related quality of life (HRQOL) is a patient-reported metric (PRM) that provides a holistic measure of health that is not addressed in traditional outcome measures. The acute responsiveness of HRQOL after pediatric/congenital cardiac catheterization procedures has not, to our knowledge, been studied.

Methods: A single-center prospective cohort study was performed, longitudinally evaluating HRQOL and other PRM in school-age children and adolescents (ages 8-18) undergoing diagnostic and interventional cardiac catheterization procedures prior to their scheduled procedure, and then 1 day, ∼1 month, and ∼3 months after the procedure.

Effect of sodium butyrate on kidney and liver mitochondrial dysfunction in a lipopolysaccharide mouse model.

Sodium butyrate can reduce inflammation, but it is not known if butyrate can improve mitochondrial dysfunction during sepsis. We tested butyrate to prevent or reverse lipopolysaccharide (LPS)-induced mitochondrial dysfunction in murine kidney and liver. C57BL/6 mice were grouped as control (n = 9), intraperitoneal (IP) LPS (n = 8), pretreatment with IP butyrate 600 (n = 3) or 1200 mg/kg (n = 8) followed 2 h later by LPS, posttreatment with IP butyrate 600 (n = 3) or 1200 mg/kg (n = 7) 1 h after LPS, or butyrate 1200 mg/kg only (n = 8).

Ethics Consultation in U.S. Pediatric Hospitals: Adherence to National Practice Standards.

Background: The American Society for Bioethics and Humanities (ASBH), a professional organization that certifies ethics consultants who pass the qualifying examination, published standards for the conduct of ethics consultations (EC). A national survey of adult hospital ethics consultants identified adherence to these standards, but no assessment of pediatric hospitals' adherence has been done.

Methods: In this cross-sectional study, a national questionnaire was distributed electronically in 2022 to pediatric ethics consultants at children's hospitals, collecting information about adherence to the ASBH standards.