Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency.

Zeta-chain associated protein kinase 70 kDa (ZAP70) combined immunodeficiency (CID) is an autosomal recessive severe immunodeficiency that is characterized by abnormal T-cell receptor signaling. Children with the disorder typically present during the first year of life with diarrhea, failure to thrive, and recurrent bacterial, viral, or opportunistic infections. To date, the only potential cure is hematopoietic stem cell transplant (HSCT).

Hematopoietic Bone Marrow Transplant to Treat Systemic EBV-positive T-cell Lymphoma of Childhood.

Systemic Epstein-Barr virus-positive T-cell lymphoma of childhood (S-EBV-TCL) is a rare disease for which there is no standard of care. S-EBV-TCL is often associated with hemophagocytic lymphohistiocytosis and is generally thought of on the spectrum of EBV-related disease. For the few reported cases of cure in the literature, hematopoietic stem cell transplant has been required because it is the only treatment that has induced complete remission in patients suffering from EBV-associated T-cell or natural killer cell lymphoproliferative diseases, except hemophagocytic lymphohistiocytosis.

Feasibility of Electronic Medication Monitoring Among Adolescents and Emerging Adults with Sickle Cell Disease.

Purpose: To examine the feasibility of using MEMS bottles to assess adherence among adolescents and emerging adults with sickle cell disease.

Patients And Methods: Eighteen non-Hispanic Black participants with HbSS (M = 17.8 years; 61% male) were given a MEMS bottle to store hydroxyurea (n = 14) or deferasirox (n = 4).

Do vaccines cause epilepsy? Review of cases in the National Vaccine Injury Compensation Program.

Objective: The National Childhood Vaccine Injury Act of 1986 created the National Vaccine Injury Compensation Program (VICP), a no-fault alternative to the traditional tort system. Since 1988, the total compensation paid exceeds $5 billion. Although epilepsy is one of the leading reasons for filing a claim, there has been no review of the process and validity of the legal outcomes given current medical information.

Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure.

Context: Executive dysfunction is a well-recognized component of the cognitive phenotype of Klinefelter syndrome (KS), yet the neural basis of KS-associated cognitive weaknesses, and their association with testicular failure is unknown.

Objective: We investigated executive function, brain activation, and pubertal development in adolescents with and without KS.

Methods: Forty-three adolescents with KS (mean age 12.

Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza.

Background: Influenza virus is responsible for a large global burden of disease, especially in children. Multiple Organ Dysfunction Syndrome (MODS) is a life-threatening and fatal complication of severe influenza infection.

Methods: We measured RNA expression of 469 biologically plausible candidate genes in children admitted to North American pediatric intensive care units with severe influenza virus infection with and without MODS.

Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy.

Proximal spinal muscular atrophy (SMA) is a leading genetic cause for infant death in the world and results from the selective loss of motor neurons in the spinal cord. SMA is a consequence of low levels of SMN protein and small molecules that can increase SMN expression are of considerable interest as potential therapeutics. Previous studies have shown that both 4-phenylbutyrate (4PBA) and trichostatin A (TSA) increase SMN expression in dermal fibroblasts derived from SMA patients.

Trajectories of Traumatic Stress Symptoms Among Siblings of Children With Cancer: The First Two Years Post-Diagnosis.

Objective: Identify and describe trajectories of cancer-related posttraumatic stress symptoms (PTSS) among siblings of children with cancer within two years of diagnosis.

Method: Siblings (aged 8-18; M = 11.2 years) across the United States, and for each, one caregiver, were recruited for a cohort sequential longitudinal study with three data collection points six months apart beginning at 6- or 12-months after cancer diagnosis.

Contributions to auditory system conduction velocity: insights with multi-modal neuroimaging and machine learning in children with ASD and XYY syndrome.

Introduction: The M50 electrophysiological auditory evoked response time can be measured at the superior temporal gyrus with magnetoencephalography (MEG) and its latency is related to the conduction velocity of auditory input passing from ear to auditory cortex. In children with autism spectrum disorder (ASD) and certain genetic disorders such as XYY syndrome, the auditory M50 latency has been observed to be elongated (slowed).

Methods: The goal of this study is to use neuroimaging (diffusion MR and GABA MRS) measures to predict auditory conduction velocity in typically developing (TD) children and children with autism ASD and XYY syndrome.

Hybrid palliation versus nonhybrid management for a multi-institutional cohort of infants with critical left heart obstruction.

Objective: To compare patient characteristics and overall survival for infants with critical left heart obstruction after hybrid palliation (bilateral pulmonary artery banding with or without ductal stenting) versus nonhybrid management (eg, Norwood, primary transplantation, biventricular repair, or transcatheter/surgical aortic valvotomy).

Methods: From 2005 to 2019, 1045 infants in the Congenital Heart Surgeons' Society critical left heart obstruction cohort underwent interventions across 28 institutions. Using a balancing score propensity analysis, 214 infants who underwent hybrid palliation and 831 infants who underwent nonhybrid management were proportionately matched regarding variables significantly associated with mortality and variables noted to significantly differ between groups.

The past, present and future of ACS NSQIP-Pediatric: Evolution from a quality registry to a comparative quality performance platform.

Quality and process improvement (QI/PI) in children's surgical care require reliable data across the care continuum. Since 2012, the American College of Surgeons' (ACS) National Surgical Quality Improvement Program-Pediatric (NSQIP-Pediatric) has supported QI/PI by providing participating hospitals with risk-adjusted, comparative data regarding postoperative outcomes for multiple surgical specialties. To advance this goal over the past decade, iterative changes have been introduced to case inclusion and data collection, analysis and reporting.

The influence of disease course and surgery on quality of life in children with focal cortical dysplasia and long-term epilepsy-associated tumours: A systematic review and meta-analysis.

Introduction: Carefully selected patients with lesional epilepsy, including focal cortical dysplasia (FCD) and long-term epilepsy-associated tumours (LEAT), can benefit from epilepsy surgery. The influence of disease course and subsequent epilepsy surgery on quality of life (QoL) and intelligence quotient (IQ) is not well understood.

Methods: A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.

Factors associated with US caregivers' uptake of pediatric COVID-19 vaccine by race and ethnicity.

Objectives: To assess differences in willingness to vaccinate children against COVID-19, and factors that may be associated with increased acceptance, among US caregivers of various racial and ethnic identities who presented with their child to the Emergency Department (ED) after emergency use authorization of vaccines for children ages 5-11.

Study Design: A multicenter, cross-sectional survey of caregivers presenting to 11 pediatric EDs in the United States in November-December 2021. Caregivers were asked about their identified race and ethnicity and if they planned to vaccinate their child.

Preliminary Results of Instantaneous Centre of Rotation Change after Thoracic Instrumentation in Adolescent Idiopathic Scoliosis Patients.

Introduction: The instantaneous centre of rotation (ICR) is the centre of motion with zero velocity where a rigid body moves in a particular plane. ICR, as a dynamic measurement, gives more accurate results in terms of quality and quantity of the vertebral motions compared to range of motion (ROM). We aimed to determine the effect of thoracic instrumentation on cervical movement of adolescent idiopathic scoliosis (AIS) patients who had undergone thoracic level instrumentation by measuring pre-operative and post-operative ICR change in a pilot study.

3D Hydrogel Cultures for High-Throughput Drug Discovery.

Our increased understanding of how a cell's microenvironment influences its behavior has fueled an interest in three-dimensional (3D) cell cultures for drug discovery. Particularly, scaffold-based 3D cultures are expected to recapitulate in vivo tissue stiffness and extracellular matrix composition more accurately than standard two-dimensional (2D) monolayer cultures. Here we present a 3D hydrogel cell culture setup suitable for automated screening with standard high-throughput screening (HTS) liquid handling equipment commonly found in a drug discovery laboratory.

Single-Center Experience Using the Cardiohelp System for Neonatal and Pediatric Extracorporeal Membrane Oxygenation.

Objectives: Extracorporeal membrane oxygenation (ECMO) systems have continued to evolve and improve with the development of smaller and portable systems. The Cardiohelp (Maquet Getinge Cardiopulmonary AG, Rastatt, Germany) portable life support device is a compact ECMO system used widely in adults and for ECMO transport. Reports of its use in neonatal and pediatric centers remain limited.

DNA Methylation Analysis Reveals Distinct Patterns in Satellite Cell-Derived Myogenic Progenitor Cells of Subjects with Spastic Cerebral Palsy.

Spastic type cerebral palsy (CP) is a complex neuromuscular disorder that involves altered skeletal muscle microanatomy and growth, but little is known about the mechanisms contributing to muscle pathophysiology and dysfunction. Traditional genomic approaches have provided limited insight regarding disease onset and severity, but recent epigenomic studies indicate that DNA methylation patterns can be altered in CP. Here, we examined whether a diagnosis of spastic CP is associated with intrinsic DNA methylation differences in myoblasts and myotubes derived from muscle resident stem cell populations (satellite cells; SCs).

Ultrasound for necrotizing enterocolitis: how can we optimize imaging and what are the most critical findings?

Necrotizing enterocolitis (NEC) is a common condition in the neonatal intensive care unit that continues to present challenges in terms of diagnosis and management. Traditionally NEC has been diagnosed and managed by clinical and radiographic findings, but US has shown promise in characterizing and prognosticating NEC. In this manuscript we review the abdominal US technique for NEC, the clinical significance of individual sonographic findings of NEC, and how US can be integrated in the clinical decision process for diagnosing and managing NEC.

Postoperative Respiratory Complications in SARS-CoV-2 Positive Pediatric Patients Across 20 United States Hospitals: A Cohort Study.

Introduction: Data examining rates of postoperative complications among SARS-CoV-2 positive children are limited. The purpose of this study was to evaluate the impact of symptomatic and asymptomatic SARS-CoV-2 positive status on postoperative respiratory outcomes for children.

Methods: This retrospective cohort study included SARS-CoV-2 positive pediatric patients across 20 hospitals who underwent general anesthesia from March to October 2020.