A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.

Primary Hypertrophic Osteoarthropathy (PHOAR1) is characterized by autosomal recessive loss of function variants in 15-hydroxyprostaglandin dehydrogenase (HPGD) leading to digital clubbing, periostosis, pachydermia, and severe hyperhidrosis. HPGD catalyzes the first step of prostaglandin E2 (PGE2) degradation. Selective COX-2 inhibitors have proved beneficial in adults, though it is unknown if early initiation of COX-2 inhibitors can alter the natural history of PHOAR1.

Life With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens.

Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition requiring daily medication(s) and attention to details. In addition to daily medications and regular visits with healthcare providers, families may live with perpetual angst regarding unpredictable occurrences of acute adrenal insufficiency. Despite numerous barriers and challenges imposed by this chronic condition, caregivers and healthcare professionals can empower our patients to achieve a good quality of life.

Fluid Management Bundle in Critically Ill Children With Respiratory Failure Is Associated With a Reduced Prevalence of Excess Fluid Accumulation.

Objectives: To report the feasibility of a fluid management practice bundle and describe the pre- vs. post-implementation prevalence and odds of cumulative fluid balance greater than 10% in critically ill pediatric patients with respiratory failure.

Design: Retrospective cohort from May 2022 to December 2022.

Association between procedure duration and adverse events in congenital cardiac catheterization.

Background: Procedure duration is an important predictor of patient outcomes in surgery. However, the relationship between procedure duration and adverse events in congenital cardiac catheterization is largely unexplored.

Methods: All cases entered into the Congenital Cardiac Catheterization Project on Outcomes from 2014 to 2017 were included.

The ACTION VAD Registry: A Collective Five-Year Experience.

Background: The Advanced Cardiac Therapies Improving Outcomes Network (ACTION) began in 2018 as a collaborative learning health system committed to improving outcomes in pediatric heart failure, including children and adults with congenital heart disease, supported with ventricular assist devices (VADs). This report describes patient and device characteristics, and outcomes through 1-year post-implant.

Methods: The ACTION VAD registry report was created from data submitted to the ACTION learning network from April 2018-June 2023.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

Application of the Diagnosis Grouping System to Pediatric Emergency Department Encounters.

Objective: Diagnosis grouping systems are essential for health services and epidemiological and health outcomes research. The Diagnosis Grouping System (DGS) was developed to classify International Classification of Diseases, 10th Revision diagnosis codes for pediatric emergency department (ED) encounters. We applied and compared the DGS to large samples of US ED encounters for children using 3 large health system databases.

Mode of Delivery and Subsequent Motor Function in Children With Myelomeningocele Without In Utero Repair.

Objective: To assess the association between mode of delivery and 2-year motor function in children with prenatal diagnosis of myelomeningocele.

Methods: A multisite retrospective cohort study of children with myelomeningocele across 14 NAFTNet (North American Fetal Therapy Network) centers born between 2007 and 2020 who had a physical examination available at 2 years of life. Exclusion criteria were in utero myelomeningocele repair, postnatal myelomeningocele diagnosis, missing data on fetal presentation at delivery, and contraindications to labor.

Increased usage of doxycycline for young children with Lyme disease.

Background: The 2018 Infectious Disease Committee of the American Academy of Pediatrics stated that up to 3 weeks or less of doxycycline is safe in children of all ages. Our goal was to examine trends in doxycycline treatment for children with Lyme disease.

Methods: We assembled a prospective cohort of children aged 1 to 21 years with Lyme disease who presented to one of eight participating Pedi Lyme Net centers between 2015 and 2023.

Assessing Clinical Improvement of Infants Hospitalized for Respiratory Syncytial Virus-Related Critical Illness.

Background: Pediatric respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (LRTI) commonly requires hospitalization. The Clinical Progression Scale Pediatrics (CPS-Ped) measures level of respiratory support and degree of hypoxia across a range of disease severity, but it has not been applied in infants hospitalized with severe RSV-LRTI.

Methods: We analyzed data from a prospective surveillance registry of infants hospitalized for RSV-related complications across 39 U.

Current Advances and Challenges in Gene Therapies for Neurologic Disorders: A Review for the Clinician.

Over 300 million people globally are affected by rare diseases, many of which present predominantly with neurologic symptoms. Rare neurologic disorders pose significant diagnostic and therapeutic challenges including delayed diagnoses, limited treatment options, and a shortage of specialists. However, advancements in diagnostics, particularly next-generation sequencing and expansion of newborn screening, have significantly shortened the time to diagnosis for many of these disorders.

Integrating Infant Safe Sleep and Breastfeeding Education Into an App in a Novel Approach to Reaching High-Risk Populations: Prospective Observational Study.

Background: Sudden unexpected infant death (SUID) is a leading cause of death for US infants, and nonrecommended sleep practices are reported in most of these deaths. SUID rates have not declined over the past 20 years despite significant educational efforts. Integration of prenatal safe sleep and breastfeeding education into a pregnancy app may be one approach to engaging pregnant individuals in education about infant care practices prior to childbirth.

Formulation of Quality Improvement Methodology for Risk Mitigation in Congenital Cardiac Catheterization.

The C3PO collaborative, with a history of successful quality improvement (QI) initiatives, leveraged registry participants to develop a multi-center QI initiative to reduce adverse events (AEs) in congenital cardiac catheterization. A 32-person, interdisciplinary working group analyzed audited data for all congenital cardiac catheterization cases from 2014-2017. The primary outcome was the occurrence of any high-severity (level 3/4/5) AE.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Updates on Langerhans cell histiocytosis and other histiocytosis in children: invited review-challenges and novelties in paediatric tumours.

Langerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG) family lesions, and Rosai-Dorfman-Destombes disease (RDD) are now classified by the World Health Organization (WHO) under the heading of histiocytic/dendritic cell neoplasms. Each disease may manifest as a focal lesion, as multiple lesions, or as a widespread aggressive systemic disease with visceral organ involvement. Erdheim-Chester disease (ECD) is a rare systemic disease process of adults with limited cases in children.

A BCG kill switch strain protects against Mycobacterium tuberculosis in mice and non-human primates with improved safety and immunogenicity.

Improved vaccination strategies for tuberculosis are needed. Intravenous (i.v.

Engineered Mycobacterium tuberculosis triple-kill-switch strain provides controlled tuberculosis infection in animal models.

Human challenge experiments could accelerate tuberculosis vaccine development. This requires a safe Mycobacterium tuberculosis (Mtb) strain that can both replicate in the host and be reliably cleared. Here we genetically engineered Mtb strains encoding up to three kill switches: two mycobacteriophage lysin operons negatively regulated by tetracycline and a degron domain-NadE fusion, which induces ClpC1-dependent degradation of the essential enzyme NadE, negatively regulated by trimethoprim.

Preferences for Inguinal Hernia Repair in Infants: A Survey of the Eastern Pediatric Surgery Network.

Introduction: Laparoscopic inguinal hernia repair (IHR) is being performed more frequently in children, but few studies have evaluated surgical practice patterns in infants. In this study, we surveyed pediatric surgeons within a regional consortium to assess current preferences for IHR strategy in infants. We hypothesized that early-career pediatric surgeons would prefer laparoscopic IHR over open IHR in this patient population.

The Incidence and Outcomes of Acute Kidney Disease in Critically Ill Children.

Background: Acute kidney disease (AKD) includes abnormalities of kidney function present for <90 days. Acute kidney injury (AKI) is defined as a subset of AKD, with onset within seven days. There is scant data on the rates of AKD in children and its association with outcomes.

Association Between Early Immunosuppression Center Variability and One-Year Outcomes After Pediatric Liver Transplant.

Background: Despite the existence of institutional protocols, liver transplant centers often have variability in early immunosuppression practices. We aimed to measure within-center variability in early immunosuppression after pediatric liver transplant (LT) and examine its association with one-year outcomes.

Methods: We analyzed pediatric LTs from 2013 to 2018 in the United Network for Organ Sharing registry, with data aggregated by center.

Prevention of Infections Among Pediatric Solid Organ Transplant Recipients With Asplenia or Hyposplenism.

Pediatric solid organ transplant (SOT) recipients with splenic dysfunction are at increased risk for infections, and tailored guidance on the management of asplenia/hyposplenism among SOT recipients is often lacking. The purpose of this article is to provide practice recommendations via a frequently asked questions (FAQs) format that focuses on three main domains: the identification of asplenia/hyposplenism among SOT recipients/candidates, prophylactic strategies for mitigating the risk of invasive disease associated with splenic dysfunction in the context of transplantation, and the provision of appropriate patient counseling on the risks associated with asplenia/hyposplenism. Answers to the FAQs are based on international expert opinion informed by practices for managing splenic dysfunction and associated data in other populations with asplenia.

Enterovirus and Parechovirus Neurologic Infections in Children: Clinical Presentations and Neuropathogenesis.

Enteroviruses (EVs) and parechoviruses (PeVs) are common pathogens of childhood. Enteroviral infections cause a range of clinical syndromes from mild illness to neurologic manifestations of meningitis, encephalitis, and acute flaccid myelitis. Disease manifestations are driven by a combination of viral replication and host immune response.

Reliability and Validity of the Turkish Version of Early-Onset Scoliosis Self-Report Questionnaire.

Objective: Early-Onset Scoliosis Self-Report Questionnaire (EOSQ-SELF) is a recently developed self-reported questionnaire based on the widely adopted Early-Onset Scoliosis Questionnaire and evaluates health-related quality of life in children with early-onset scoliosis over 8 years of age. To date, the questionnaire does not have a validated version in Turkish. The aim of this study was to translate EOSQ-SELF into Turkish and evaluate its reliability and validity.