Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies.

Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant and with traditional face-to-face approaches. In parallel, interest in electronic consents for clinical and research genomics has steadily increased, yet limited data are available for trio-based genomic discovery studies. We describe the design, development, implementation, and validation of an electronic iConsent application for trio-based genomic research deployed to support genomic studies of cerebral palsy.

Adolescent anterior cruciate ligament reconstruction: a decade of rising surgical cost.

Objectives: The number of anterior cruciate ligament reconstruction (ACL-R) surgeries for adolescent patients has been increasing, and so are the costs for medical care services and the general cost of living. We proposed a novel economic model assessing the cost associated with adolescent ACL-R over time and how this compared with price measures in the US economy.

Study Design: Economic analysis.

Surgical Management of Traumatic Meniscus Injuries.

The menisci increase the contact area of load bearing in the knee and thus disperse the mechanical stress via their circumferential tensile fibers. Traumatic meniscus injuries cause mechanical symptoms in the knee, and are more prevalent amongst younger, more active patients, compared to degenerative tears amongst the elderly population. Traumatic meniscus tears typically result from the load-and-shear mechanism in the knee joint.

Martial Arts: Orthopaedic Injuries and Related Biomechanics.

Martial arts are various systems of combat skills encompassing striking and grappling. Many styles have evolved into modern sports, and some have been included in the Olympics. The physicality of these can predispose practitioners to musculoskeletal injuries, such as anterior cruciate ligament ruptures; patellar, shoulder, or elbow instabilities; extremity fractures; and hand and spine injuries, which have been studied both clinically and biomechanically.

The real world experience of pediatric primary hyperoxaluria patients in the PEDSnet clinical research network.

The rarity of primary hyperoxaluria (PH) challenges our understanding of the disease. The purpose of our study was to describe the course of clinical care in a United States cohort of PH pediatric patients, highlighting health service utilization. We performed a retrospective cohort study of PH patients < 18 years old in the PEDSnet clinical research network from 2009 to 2021.

Diagnostic Code-Based Screening for Identifying Children with Primary Hyperoxaluria.

Purpose: We evaluated the utility of diagnostic codes to screen for patients with primary hyperoxaluria (PH) and evaluate their positive predictive value (PPV) in identifying children with this rare condition in PEDSnet, a clinical research network of pediatric health systems that shares electronic health records data.

Materials And Methods: We conducted a cross-sectional study of children who received care at 7 PEDSnet institutions from January 2009 through January 2021. We developed and applied screening criteria using diagnostic codes that generated 3 categories of the hypothesized probability of PH.

PRMT5 activates AKT via methylation to promote tumor metastasis.

Protein arginine methyltransferase 5 (PRMT5) is the primary methyltransferase generating symmetric-dimethyl-arginine marks on histone and non-histone proteins. PRMT5 dysregulation is implicated in multiple oncogenic processes. Here, we report that PRMT5-mediated methylation of protein kinase B (AKT) is required for its subsequent phosphorylation at Thr308 and Ser473.

Two-Tier Lyme Disease Serology in Children with Previous Lyme Disease.

A history of Lyme disease can complicate the interpretation of Lyme disease serology in acutely symptomatic patients. We prospectively enrolled children undergoing evaluation for Lyme disease in the emergency department of one of eight participating Pedi Lyme Net centers. We selected symptomatic children with a Lyme disease history (definite, probable, or none) as well as an available research biosample.

Recurrent acute kidney injury in preterm neonates is common and associated with worse outcomes and higher mortality.

Background: Acute kidney injury (AKI) in preterm neonates is associated with poor outcomes that may worsen in the setting of recurrent episodes of AKI. This study defines and studies the incidence, risk factors, and outcomes of recurrent AKI (rAKI).

Methods: Retrospective chart review of the neonates born at a gestational age of ≤28 weeks admitted to the neonatal intensive care unit (NICU) between January 2014 and December 2018.

The Impact of Maternal Preeclampsia and Hyperglycemia on the Cardiovascular Health of the Offspring: A Systematic Review and Meta-analysis.

Objectives: The objective of this review was to assess the impact of maternal preeclampsia or hyperglycemia on the body composition and cardiovascular health in the offspring.

Study Design: We conducted a systematic review utilizing PubMed, EBSCO, CINAHLPlus, Cochrane Library, and Web of Science to include all studies assessing the impact of preeclampsia/eclampsia and/or gestational/pregestational diabetes mellitus on the health of the offspring (children <10 years of age). The health measures included anthropometry, cardiac dimensions and function, and vascular function.

Delaying Urgent Exploration in Neonatal Testicular Torsion May Have Significant Consequences for the Contralateral Testis: A Critical Literature Review.

Objective: To assess the optimal management strategy for boys with neonatal testicular torsion (NTT) in the first 30 days of life, and to stratify outcomes for prenatal, postnatal, unilateral, synchronous, and asynchronous events METHODS: All articles including case reports published between 1946 and 2020 in Embase/Scopus/Medline/Pubmed and Web of Science that had a defined diagnosis of NTT within the first 30 days of life were reviewed. Data and outcomes were analyzed individually, and together as pooled data, using a random effect model.

Results: There was a total of 152 studies representing 1336 patients.

Telehealth for Pediatric Cardiology Practitioners in the Time of COVID-19.

Due to the COVID-19 pandemic, there has been an increased interest in telehealth as a means of providing care for children by a pediatric cardiologist. In this article, we provide an overview of telehealth utilization as an extension of current pediatric cardiology practices and provide some insight into the rapid shift made to quickly implement these telehealth services into our everyday practices due to COVID-19 personal distancing requirements. Our panel will review helpful tips into the selection of appropriate patient populations and specific cardiac diagnoses for telehealth that put patient and family safety concerns first.

Lymphatic Management in Single-Ventricle Patients.

Lymphatic complications in patients with single ventricle include plastic bronchitis, protein-losing enteropathy, and chylous pleural effusion are a source of significant morbidity and mortality with historically limited therapeutic options. Novel lymphatic imaging techniques such as intranodal lymphangiography, dynamic contrast enhanced magnetic resonance lymphangiography and liver lymphangiography have allowed visualization of the lymphatic system and discovery of the pathophysiological mechanism of these conditions. This mechanism includes the combination of 2 factors: increased lymphatic flow in patients with elevated central venous pressure and presence of the lymphatic anatomical variant that allows the lymph to flow in close proximity to the serous (pleural space in chylothorax) or mucosal (plastic bronchitis and protein losing enteropathy) surfaces.

Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.

Background: Pulmonary involvement in lymphatic anomalies (LA) is associated with significant morbidity and mortality. Dynamic contrast-enhanced magnetic resonance lymphangiography (DCMRL) is capable of imaging the lymphatic system in a variety of pulmonary lymphatic disorders.

Research Question: The objective of this study is to describe the central lymphatic anatomy in patients with LA and pulmonary involvement on DCMRL.

Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.

Mucopolysaccharidoses (MPSs) are rare lysosomal storage diseases caused by the accumulation of undegraded glycosaminoglycans in cells and tissues. The effectiveness of early intervention for MPS has been reported. Multiple-assay formats using tandem mass spectrometry have been developed.

Error-corrected sequencing strategies enable comprehensive detection of leukemic mutations relevant for diagnosis and minimal residual disease monitoring.

Background: Pediatric leukemias have a diverse genomic landscape associated with complex structural variants, including gene fusions, insertions and deletions, and single nucleotide variants. Routine karyotype and fluorescence in situ hybridization (FISH) techniques lack sensitivity for smaller genomic alternations. Next-generation sequencing (NGS) assays are being increasingly utilized for assessment of these various lesions.

Comparison of bioimpedance body composition in young adults in the Russian Children's Study.

Background & Aims: Body mass index is a simple anthropometric measure (kg/m) used as an indirect estimate of body fat in individuals, and in assessments of population health and comparisons between populations. Bioelectrical impedance analysis (BIA) is often used to provide additional information on body fat and fat-free mass, and has been used to generate body composition reference data in national health surveys. However, BIA measurements are known to be device-specific and there are few published studies comparing results from different BIA instruments.

A prospective multi-center quality improvement initiative (NINJA) indicates a reduction in nephrotoxic acute kidney injury in hospitalized children.

Nephrotoxic medication (NTMx) exposure is a common cause of acute kidney injury (AKI) in hospitalized children. The Nephrotoxic Injury Negated by Just-in time Action (NINJA) program decreased NTMx associated AKI (NTMx-AKI) by 62% at one center. To further test the program, we incorporated NINJA across nine centers with the goal of reducing NTMx exposure and, consequently, AKI rates across these centers.

DNA Methylation of Candidate Genes (ACE II, IFN-γ, AGTR 1, CKG, ADD1, SCNN1B and TLR2) in Essential Hypertension: A Systematic Review and Quantitative Evidence Synthesis.

Physical, chemical, and social environments adversely affect the molecular process and results in cell signal transduction and the subsequent transcription factor dysregulation, leading to impaired gene expression and abnormal protein synthesis. Stressful environments such as social adversity, isolation, sustained social threats, physical inactivity, and highly methylated diets predispose individuals to molecular level alterations such as aberrant epigenomic modulations that affect homeostasis and hemodynamics. With cardiovascular disease as the leading cause of mortality in the US and blacks/African Americans being disproportionately affected by hypertension (HTN) which contributes substantially to these deaths, reflecting the excess mortality and survival disadvantage of this sub-population relative to whites, understanding the molecular events, including epigenomic and socio-epigenomic modulations, is relevant to narrowing the black-white mortality risk differences.

Blood lead levels and timing of male sexual maturity: A longitudinal study of Russian boys.

Background: Higher blood lead levels (BLLs) have been linked to neurologic deficits and impaired growth, but few studies have evaluated their association with timing of sexual maturity or pubertal progression in boys.

Methods: In a longitudinal cohort of Russian boys enrolled at age 8-9 and followed to adulthood, BLLs were measured at study entry, and pubertal staging (genitalia and pubic hair) and testicular volume (TV) measurements were obtained annually. We used interval-censored regression models to estimate differences between boys with higher BLL (≥5 μg/dL) and lower BLL in mean ages at sexual maturity (genitalia stage 5, pubic hair stage 5, or TV ≥ 20 mL) and duration of pubertal progression (onset to maturity), adjusting for potential confounders.

Pain Management for Nasogastric Intubation in Pediatrics.

Nasogastric (NG) intubation is a common yet one of the most uncomfortable minor procedures done in children and adults alike. A variety of analgesics, such as ketamine, lidocaine, and nitrous oxide, have been shown to reduce pain in various minor pediatric procedures. This retrospective study explores how often various pain management practices are used, either alone or in combination.

Brief Report: The Genetic Profile of Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis Resembles That of Adult Rheumatoid Arthritis.

Objective: Juvenile idiopathic arthritis (JIA) comprises 7 heterogeneous categories of chronic childhood arthritides. Approximately 5% of children with JIA have rheumatoid factor (RF)-positive arthritis, which phenotypically resembles adult rheumatoid arthritis (RA). Our objective was to compare and contrast the genetics of RF-positive polyarticular JIA with those of RA and selected other JIA categories, to more fully understand the pathophysiologic relationships of inflammatory arthropathies.