Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. Despite scientific advances, this chronic, debilitating, and life-limiting disorder continues to cause a substantial physical, psychological, and financial toll on patients and their families. The highly complex medical needs of affected patients require specialised expertise and multidisciplinary care.

The age-specific microbiome of children with milk, egg, and peanut allergy.

Background: Immune regulation by gut microbiota is affected by dysbiosis and may precede food allergy onset. Prior studies lacked comparisons stratified by age and clinical phenotype.

Objective: To assess the microbiome of children with food allergy (<3 years, 3-18 years) compared with similar aged children without food allergy.

Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.

Background: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs).

Aims: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers.

Physician workload and practice management in pediatric gastroenterology.

Objectives: The pediatric gastroenterology workforce has grown in the last few decades. The North American Society of Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) formed a task force to understand current pediatric gastroenterology organizations' practice structures.

Methods: 19-item electronic survey was distributed to NASPGHAN members who were clinical or academic division directors.

Longitudinal study of birthweight, blood pressure, and markers of arterial stiffness in children age six among the TIDES cohort.

Objective: Although some studies have observed an association between birthweight and cardiovascular disease in adulthood, fewer have investigated whether birthweight is linked to cardiovascular health in early childhood. This study assesses the association between birthweight and cardiovascular outcomes in children 6 years of age.

Study Design: Birthweight, blood pressure (BP), and markers of arterial stiffness in children, including brachial artery distensibility and carotid-femoral pulse wave velocity (cfPWV), were obtained from 324 participants in The Infant Development and the Environment Study, a prospective multisite pregnancy cohort.

Comparison and Agreement between Cardiovascular Computed Tomography-Derived Mid-Diastolic and End-Diastolic Ventricular Volume in Patients with Congenital Heart Disease.

Prospective electrocardiogram (ECG)-triggered cardiovascular computed tomography (CCT) is primarily utilized for anatomical information in congenital heart disease (CHD) and has not been utilized for calculation of the end-diastolic volume (EDV); however, the mid-diastolic volume (MDV) may be measured. The objective of this study was to evaluate the feasibility and agreement between ventricular EDV and MDV. 31 retrospectively ECG-gated CCT were analyzed for the study of the 450 consecutive CCT.

Survival outcomes in pediatric patients with metastatic Ewing sarcoma who achieve a rapid complete response of pulmonary metastases.

Purpose: Our objectives were to compare overall survival (OS) and pulmonary relapse between patients with metastatic Ewing sarcoma (EWS) at diagnosis who achieve rapid complete response (RCR) and those with residual pulmonary nodules after induction chemotherapy (non-RCR).

Patients And Methods: This retrospective cohort study included children under 20 years with metastatic EWS treated from 2007 to 2020 at 19 institutions in the Pediatric Surgical Oncology Research Collaborative. Chi-square tests were conducted for differences among groups.

Hypoplastic Circumflex Aorta With Anomalous Left Pulmonary Artery: Uncrossing Operation in a Neonate.

Circumflex aortic arch with coarctation and anomalous origin of the left pulmonary artery from the aorta are rare cardiovascular anomalies. These conditions can lead to early pulmonary hypertension and challenging management. Early diagnosis and surgical intervention are beneficial for optimal outcome.

Association of Growth During Infancy with Neurodevelopment and Obesity in Children Born Very Preterm: The Environmental Influences on Child Health Outcomes Cohort.

Objective: To evaluate associations between change in weight z score after neonatal intensive care unit (NICU) discharge and neurodevelopmental outcomes and obesity at 12-48 months of age among individuals born very preterm.

Study Design: This secondary analysis used data from infants born very preterm participating in the Environmental influences on Child Health Outcomes cohort (n = 1400). Growth during infancy was calculated as change in weight z score between NICU discharge and follow-up at a mean of 27 months of age.

Procalcitonin Levels in Identifying Bacterial Infections in Children with and without COVID-19.

Objective: Elevated procalcitonin levels have been associated with bacterial infection in children. Observational studies reported high procalcitonin values in COVID-19. Data on bacterial coinfections in pediatric COVID-19 is sparse; small studies suggest a low coinfection rate.

Level of Supervision for the Entrustable Professional Activities Common to General Pediatrics and the Subspecialties Decreases from Residency to Fellowship.

Objectives: To compare level of supervision (LOS) ratings of graduating pediatric residents with their assessments as fellows for the five Entrustable Professional Activities (EPAs) common to general pediatrics and the subspecialties and to determine if the difference between ratings from residency to fellowship is less for the QI and Practice Management EPAs, since the skills needed to perform these may be less context-dependent.

Methods: We compared ratings of graduating residents with their assessments as fellows using LOS data from two sequential EPA studies.

Results: There were 65 ratings from 41 residents at the first fellow assessment.

Maternal Recall of Obstetric Office-Based Activities That Promote Antepartum Tetanus-Diphtheria-Acellular-Pertussis Vaccination.

To explore associations between maternal characteristics and recall of obstetric provider actions in promoting antepartum tetanus-diphtheria-acellular-pertussis (Tdap) vaccination. A convenience sample of 1,682 postpartum women was surveyed in this cross-sectional study. Maternal characteristics and recall of four obstetric provider actions (recommending antepartum Tdap vaccine, offering it in clinic, providing written information, and referring patients elsewhere for vaccination) were collected.

The Shared Ovary: A Multidisciplinary Discussion With Pediatric and Adolescent Gynecology.

Pediatric and adolescent ovarian lesions are common and are frequently managed by both pediatric surgeons and pediatric and adolescent gynecologists. During the 2023 American Academy of Pediatric Section on Surgery meeting, an educational symposium was delivered focusing on various aspects of management of pediatric and adolescent benign and malignant masses, borderline lesions, and fertility options for children and adolescents undergoing cancer therapies. This article highlights the discussion during this symposium.

Despite mandated primary series, health care personnel still hesitant about COVID-19 vaccine and immunizing children.

Importance: Healthcare personnel (HCP) are important messengers for promoting vaccines, for both adults and children. Our investigation describes perceptions of fully vaccinated HCP about COVID-19 vaccine for themselves and primary series for their children.

Objective: To determine associations between sociodemographic, employment characteristics and perceptions of COVID-19 vaccines among HCP overall and the subset of HCP with children, who were all mandated to receive a COVID-19 vaccine, in a large US metropolitan region.

Utilization and Patient-Reported Outcomes of Direct-to-Consumer Telemedicine During the First 6 Weeks of the COVID-19 Pandemic in the Largest Pediatric Ambulatory Network in New York State.

We aimed to (1) describe telemedicine utilization and usability during the first 6 weeks of the pandemic and (2) determine if usability varied by individual- or visit-level characteristics. We conducted a retrospective cohort study of ambulatory pediatric telemedicine visits occurring between March 10, 2020, and April 18, 2020, across a large academic health system. We performed manual chart review to assess individual- and visit-level characteristics and invited caregivers to respond to an adapted Telehealth Usability Questionnaire (TUQ).

Evaluation of the Safety and Efficacy of Enoxaparin Once-Daily Versus Twice-Daily Dosing for Prophylaxis in Pediatric Patients.

Objectives: Enoxaparin for the prevention of venous thromboembolism (VTE) in pediatric patients is -typically dosed twice a day. The use of once-daily dosing like that used in adult patients is limited because of a lack of safety and efficacy data. The aim of this study was to evaluate the safety and efficacy of -once-daily versus twice-daily dosing of enoxaparin for pediatric VTE prophylaxis based on incidence of thrombotic and bleeding events.