Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.

Inherited bone marrow failure (IBMF) syndromes are rare blood disorders characterized by hematopoietic cell dysfunction and predisposition to hematologic malignancies. Despite advances in the understanding of molecular pathogenesis of these heterogeneous diseases, genetic variant interpretation, genotype-phenotype correlation, and outcome prognostication remain difficult. As new IBMF and other myelodysplastic syndrome (MDS) predisposition genes continue to be discovered (frequently in small kindred studies), there is an increasing need for a systematic framework to evaluate penetrance and prevalence of mutations in genes associated with IBMF phenotypes.

Variations in practice in cardiac neurodevelopmental follow-up programs.

Over the last two decades, heart centres have developed strategies to meet the neurodevelopmental needs of children with congenital heart disease. Since the publication of guidelines in 2012, cardiac neurodevelopmental follow-up programmes have become more widespread. Local neurodevelopmental programmes, however, have been developed independently in widely varying environments.

Preoperative Blood Transfusions and Morbidity in Neonates Undergoing Surgery.

Background: Blood transfusions in the neonatal patient population are common, but there are no established guidelines regarding transfusion thresholds. Little is known about postoperative outcomes in neonates who receive preoperative blood transfusions (PBTs).

Methods: Using the American College of Surgeons National Surgical Quality Improvement Program-Pediatric Participant Use Data Files from 2012 to 2015, we identified all neonates who underwent surgery.

Morphologic remission status is limited compared to ΔN flow cytometry: a Children's Oncology Group AAML0531 report.

Risk stratification for acute myeloid leukemia (AML) uses molecular and cytogenetic abnormalities identified at diagnosis. Response to therapy informs risk, and morphology continues to be used more frequently than flow cytometry. Herein, the largest cohort of pediatric patients prospectively assessed for measurable residual disease (MRD) by flow cytometry (N = 784) is reported.

Improving Attendance and Patient Experiences During the Expansion of a Telehealth-Based Pediatric Otolaryngology Practice.

Objective: To determine the rates and primary causes of missed appointments (MAs) for telehealth visits and present remedies for improvement.

Methods: This cross-sectional survey was conducted at a tertiary care pediatric otolaryngology practice during expansion of telehealth-based visits. A review of questionnaire responses was performed for 103 consecutive patients with MAs over 50 business days from March 20, 2020, to May 29, 2020.

Multisystem Inflammatory Syndrome in Children: Survey of Protocols for Early Hospital Evaluation and Management.

Objective: To describe the similarities and differences in the evaluation and treatment of multisystem inflammatory syndrome in children (MIS-C) at hospitals in the US.

Study Design: We conducted a cross-sectional survey from June 16 to July 16, 2020, of US children's hospitals regarding protocols for management of patients with MIS-C. Elements included characteristics of the hospital, clinical definition of MIS-C, evaluation, treatment, and follow-up.

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.

Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal degeneration in >80% of affected children before two years of age. We analyzed clinical, biochemical, and developmental outcomes for 168 genotypically diverse GA1 patients managed at a single center over 31 years, here separated into three treatment cohorts: children in Cohort I (n = 60; DOB 2006-2019) were identified by newborn screening (NBS) and treated prospectively using a standardized protocol that included a lysine-free, arginine-enriched metabolic formula, enteral l-carnitine (100 mg/kg•day), and emergency intravenous (IV) infusions of dextrose, saline, and l-carnitine during illnesses; children in Cohort II (n = 57; DOB 1989-2018) were identified by NBS and treated with natural protein restriction (1.

Exhaled end-tidal carbon dioxide as a predictor of lactate and pediatric sepsis.

Objective: The objective of this study was to investigate the relationship between exhaled end-tidal carbon dioxide (ETCO) and serum lactate via nasal capnography and to assess the ability of ETCO to predict disease severity in children with suspected sepsis in a pediatric emergency department.

Methods: This prospective study included patients (≥ 30 days to ≤21 years of age) who presented with suspected sepsis to a tertiary pediatric emergency department. Pearson correlation coefficient was generated to measure the linear relationship between ETCO and lactate.

Infantile Tibia Vara (Blount Disease) with Iatrogenic Changes Causing Residual Tibial Deformities.

Treatment of infantile tibia vara or Blount disease (ITV/BD) in patients < 3 years old and Langenskiold stages I-III consists of orthosis and, in relapsing cases, proximal tibial osteotomy and/or proximal tibial guided growth laterally with a tension band plate. Our aim was to evaluate the results of treatments in a consecutive group. After Institutional Review Board approval, data from 2002 to 2018 were collected.

Competency-Based Assessment Tool for Pediatric Esophagoscopy: International Modified Delphi Consensus.

Objectives/hypothesis: Create a competency-based assessment tool for pediatric esophagoscopy with foreign body removal.

Study Design: Blinded modified Delphi consensus process.

Setting: Tertiary care center.

What aspects of their child's primary care do mothers value? A qualitative analysis of perspectives of women in treatment for opioid use disorder.

Background: Preventive paediatric healthcare is essential for infant and child health. Current research, however, suggests that the delivery of routine well child care (WCC) for children affected by maternal opioid use disorder (OUD) could be improved. How mothers perceive interactions with healthcare providers may help identify ways to modify the experience of WCC, which could ultimately improve healthcare utilization, patient satisfaction and clinical outcomes.

A Complicated Case of Vaccine Refusal.

Parents in the United States have a legal right to refuse vaccination for their children. There are, however, special circumstances under which the state may compel vaccination against parental wishes. In this Ethics Rounds article, we present the case of a young boy with sickle cell disease who was partially vaccinated against encapsulated bacteria and the ethics of whether to compel complete vaccination before splenectomy.

Severe Acute Respiratory Syndrome Coronavirus 2, COVID-19, and the Renin-Angiotensin System: Pressing Needs and Best Research Practices.

The coronavirus disease 2019 (COVID-19) pandemic is associated with significant morbidity and mortality throughout the world, predominantly due to lung and cardiovascular injury. The virus responsible for COVID-19-severe acute respiratory syndrome coronavirus 2-gains entry into host cells via ACE2 (angiotensin-converting enzyme 2). ACE2 is a primary enzyme within the key counter-regulatory pathway of the renin-angiotensin system (RAS), which acts to oppose the actions of Ang (angiotensin) II by generating Ang-(1-7) to reduce inflammation and fibrosis and mitigate end organ damage.

A pilot study on pediatric mononucleosis presenting with abscess.

Context: To describe this new clinical entity, diagnosis, and potential management of pediatric intratonsillar/peritonsillar abscesses in children affected by infectious mononucleosis.

Methods: After institutional review board approval, a retrospective chart review of patients who underwent testing for infectious mononucleosis and also had a computed tomography scan of the head and neck was completed. Those who did not have imaging showing the palatine tonsils and those with insufficient testing to diagnose infectious mononucleosis were excluded.

Compassion Fatigue in Nurses Caring for Medically Complex Children.

The number of children living with chronic, complex medical needs is steadily increasing secondary to advances in clinical technology and disease management. As a result, patient care requirements become multifaceted with the need for specific therapies and treatments that require extensive knowledge and skills. As these children are managed throughout the health care continuum, nurses are challenged to offer specialized care for complex conditions, while meeting the personnel and financial demands of the changing health care environment.

Cognitive Function Following Diabetic Ketoacidosis in Children With New-Onset or Previously Diagnosed Type 1 Diabetes.

Objective: This study assessed whether a single diabetic ketoacidosis (DKA) episode is associated with cognitive declines in children with newly diagnosed type 1 diabetes and whether the same is true in children who had previously been diagnosed after accounting for variations in glycemic control and other relevant factors.

Research Design And Methods: We prospectively enrolled 758 children, 6-18 years old, who presented with DKA in a randomized multisite clinical trial evaluating intravenous fluid protocols for DKA treatment. DKA was moderate/severe in 430 children and mild in 328 children.

Heat shock factor 1 (HSF1-pSer326) predicts response to bortezomib-containing chemotherapy in pediatric AML: a COG report.

Bortezomib (BTZ) was recently evaluated in a randomized phase 3 clinical trial by the Children's Oncology Group (COG) that compared standard chemotherapy (cytarabine, daunorubicin, and etoposide [ADE]) vs standard therapy with BTZ (ADEB) for de novo pediatric acute myeloid leukemia (AML). Although the study concluded that BTZ did not improve outcome overall, we examined patient subgroups benefiting from BTZ-containing chemotherapy using proteomic analyses. The proteasome inhibitor BTZ disrupts protein homeostasis and activates cytoprotective heat shock responses.

Mucolipidoses Overview: Past, Present, and Future.

Mucolipidosis II and III (ML II/III) are caused by a deficiency of uridine-diphosphate -acetylglucosamine: lysosomal-enzyme--acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase, EC2.7.8.

IDeA States Pediatric Clinical Trials Network for Underserved and Rural Communities.

The National Institutes of Health's Environmental Influences on Child Health Outcomes (ECHO) program aims to study high-priority and high-impact pediatric conditions. This broad-based health initiative is unique in the National Institutes of Health research portfolio and involves 2 research components: (1) a large group of established centers with pediatric cohorts combining data to support longitudinal studies (ECHO cohorts) and (2) pediatric trials program for institutions within Institutional Development Awards states, known as the ECHO Institutional Development Awards States Pediatric Clinical Trials Network (ISPCTN). In the current presentation, we provide a broad overview of the ISPCTN and, particularly, its importance in enhancing clinical trials capabilities of pediatrician scientists through the support of research infrastructure, while at the same time implementing clinical trials that inform future health care for children.

BOTOX injection to treat strabismus after infant botulism type B infection.

Purpose: The significance of botulinum toxin to ophthalmologists is twofold. Botulism, a medical emergency, frequently presents with ocular findings including blurred vision, diplopia, ptosis, and photophobia as a result of the neurotoxin produced by Clostridium botulinum. However, botulinum toxins also have therapeutic uses for medical conditions including strabismus.

Preventing Premature Atherosclerotic Disease.

Purpose Of Review: Cardiovascular disease (CVD) can begin in youth. Prevention is essential to reducing the burden of CVD-related risk factors in childhood and disease development in adulthood. This review addresses the clinical scope of CVD prevention, including a review of conditions encountered, proposed diagnostic criteria, and management strategies.

Interstate variation within a five-state health system: Polysomnography prior to tonsillectomy in trisomy 21 patients.

Objectives: Since 2011, the American Academy of Otolaryngology - Head and Neck Surgery Clinical Practice Guidelines have recommended polysomnography (PSG) prior to tonsillectomy in children with Down syndrome (DS). The purpose of this study was to determine adherence to guidelines recommending polysomnography before tonsillectomy for children with DS and sleep-disordered breathing among pediatric otolaryngologists.

Methods: A one-year quality assurance retrospective review was conducted at four hospitals within one pediatric health system to identify children with a diagnosis of DS who underwent a tonsillectomy with or without adenoidectomy from January 1, 2018, to December 31, 2018.