Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human GH: 3-year Response.

Context: Patients with aggrecan (ACAN) deficiency present with dominantly inherited short stature, as well as early-onset joint disease.

Objective: The objective of this study was to evaluate the efficacy and safety of recombinant human GH (rhGH) on linear growth in ACAN-deficient children.

Methods: Open-label, single-arm, prospective study over 3 years recruiting 10 treatment-naïve patients with heterozygous mutations in , age ≥2 years, prepubertal, and normal IGF-I concentration.

Selective early medical treatment of the patent ductus arteriosus in extremely low gestational age infants: a pilot randomised controlled trial protocol (SMART-PDA).

Introduction: Patent ductus arteriosus (PDA) is the most common cardiovascular problem that develops in extremely preterm infants and is associated with poor clinical outcomes. Uncertainty exists on whether early pharmacotherapeutic treatment of a clinically symptomatic and echocardiography-confirmed haemodynamically significant PDA in extremely preterm infants improves outcomes. Given the wide variation in the approach to PDA treatment in this gestational age (GA) group, a randomised trial design is essential to address the question.

Navigating the Impact of the Dobbs Decision: Perspectives from Pediatric Surgeons on Reproductive Healthcare.

Nationwide abortion restrictions resulting from the Dobbs v Jackson Women's Health Organization (2022) decision have generated confusion and uncertainty among healthcare professionals, with concerns for liability impacting clinical decision-making and outcomes. The impact on pediatric surgery can be seen in prenatal counseling for fetal anomaly cases, counseling for fetal intervention, and recommendations for pregnant children and adolescents who seek termination. It is essential that all physicians and healthcare team members understand the legal implications on their clinical practices, engage with resources and organizations that can help navigate these circumstances, and consider advocating for patients and themselves.

Safety and tolerance of the ketogenic diet in patients with Zellweger Syndrome.

Zellweger Syndrome is a peroxisomal disorder that can lead to elevation of long chain fatty acids and epilepsy, which can be drug resistant. The treatment of drug resistant epilepsy can include the ketogenic diet in appropriately chosen patients. Typically, the ketogenic diet is contraindicated in individuals with defects in fatty acid metabolism because of the diet's reliance on medium and long chain fatty acids.

Histoplasma associated pericarditis with pericardial tamponade in a child.

Histoplasma-mediated pericarditis is rare, and it occurs due to host-mediated inflammatory or immune response to adjacent mediastinal adenitis or pneumonitis. It is usually self-limited and rarely progresses to a disseminated infection in an immunocompetent individual. In rare instances, it can occur without pulmonary manifestations, making the diagnosis challenging given the broad list of differentials that can be considered as in our patient who initially presented with an isolated pericardial effusion with tamponade needing emergent pericardiocentesis.

A Nef Precursor or Benign Counterpart: High Prevalence of Healthy Subjects with Antibody Reactivity to the C3-Convertase.

There are two anticonvertase antibody populations—Nephritic Factors which cause complement dysregulation and C3CAbs which do not. C3CAbs are highly prevalent in the healthy adult population (>95% prevalence). C3CAbs suggest a direction of study to determine the origin of Nephritic Factors.

Trends in dedicated care for females with bleeding disorders within U.S. hemophilia treatment centers.

Graphical representation of increasing percentage of female patients seen at HTCs, percentage of females by diagnosis, number of clinics in existence, and absolute number of female patients seen over a 10-year period (top left then clockwise).

Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency.

Introduction: The metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) cleaves insulin-like growth factor (IGF)-binding proteins 3 and 5 to release bioactive IGF-I from its ternary complex. Patients with mutations in PAPP-A2 have growth failure and low free IGF-I despite elevated total IGF-I. We describe 5-year treatment response to recombinant human IGF-1 (rhIGF-1) in a patient with PAPP-A2 deficiency, and the phenotype of PAPP-A2 deficiency in three siblings.

Behavioral Assessment and Treatment via Telehealth for Children with Autism: From Local to Global Clinical Applications.

Functional analyses (FA) and functional communication training (FCT) are the most commonly used behavioral assessment and treatment approaches via telehealth for children with autism spectrum disorder (ASD) who display challenging behavior. The FA + FCT telehealth model has been shown to maintain treatment effectiveness (i.e.

Exploring the Effects of the COVID-19 Pandemic on the Children and Families Cared for by Pediatric-Focused Advanced Practice Registered Nurses.

Introduction: The coronavirus disease 2019 (COVID-19) pandemic has significantly affected children and families. The study purpose was to better understand the perceptions of pediatric-focused advanced practice registered nurses (P-APRNs) on the impact of COVID-19 on patients and practice.

Method: A 25-item electronic survey including Likert scales, multiple choice , and open-ended questions was sent by e-mail to electronic mailing list of the National Association of Pediatric Nurse Practitioners.

Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response.

Context: Patients with aggrecan (ACAN) deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation. There is a paucity of information on the effects of growth-promoting interventions.

Objective: The aim of this study was to evaluate the efficacy and safety of recombinant human growth hormone (rhGH) therapy on linear growth in children with ACAN deficiency.

Pediatric Onco-Nephrology: Time to Spread the Word-Part II: Long-Term Kidney Outcomes in Survivors of Childhood Malignancy and Malignancy after Kidney Transplant.

Onco-nephrology is a recent and evolving medical subspecialty devoted to the care of patients with kidney disease and unique kidney-related complications in the context of cancer and its treatments, recognizing that management of kidney disease as well as the cancer itself will improve survival and quality of life. While this area has received much attention in the adult medicine sphere, similar emphasis in the pediatric realm has not yet been realized. As in adults, kidney involvement in children with cancer extends beyond the time of initial diagnosis and treatment.

Parent Ratings of Generalized and Indirect Effects of Functional Communication Training for Children with Autism Spectrum Disorder.

Functional communication training (FCT) is a behavioral treatment that has been shown to reduce problem behavior and increase appropriate communication in young children with autism spectrum disorder (ASD). In this study, we assessed the effects of FCT on targeted and nontargeted problem behaviors outside of the training context, as well as parent stress, for 30 young children with ASD and their parents. Indirect measures of generalization treatment effects were administered prior to and following FCT treatment delivered via telehealth.

Multicentre prospective observational study exploring the predictive value of functional echocardiographic indices for early identification of preterm neonates at risk of developing chronic pulmonary hypertension secondary to chronic neonatal lung disease.

Introduction: Although chronic pulmonary hypertension (cPH) secondary to chronic neonatal lung disease is associated with increased mortality and respiratory and neurodevelopmental morbidities, late diagnosis (typically ≥36 weeks postmenstrual age, PMA) and the use of qualitative echocardiographic diagnostic criterion (flat interventricular septum in systole) remain significant limitations in clinical care. Our objective in this study is to evaluate the utility of relevant quantitative echocardiographic indices to identify cPH in preterm neonates, early in postnatal course and to develop a diagnostic test based on the best combination of markers.

Methods And Analysis: In this ongoing international prospective multicentre observational diagnostic accuracy study, we aim to recruit 350 neonates born <27 weeks PMA and/or birth weight <1000 g and perform echocardiograms in the third week of age and at 32 weeks PMA (early diagnostic assessments, EDA) in addition to the standard diagnostic assessment (SDA) for cPH at 36 weeks PMA.

Effect on Patient Safety of a Resident Physician Schedule without 24-Hour Shifts.

Background: The effects on patient safety of eliminating extended-duration work shifts for resident physicians remain controversial.

Methods: We conducted a multicenter, cluster-randomized, crossover trial comparing two schedules for pediatric resident physicians during their intensive care unit (ICU) rotations: extended-duration work schedules that included shifts of 24 hours or more (control schedules) and schedules that eliminated extended shifts and cycled resident physicians through day and night shifts of 16 hours or less (intervention schedules). The primary outcome was serious medical errors made by resident physicians, assessed by intensive surveillance, including direct observation and chart review.

Risk of Patient Harm Related to Unnecessary Dilution of Ready-to-Administer Prefilled Syringes: A Literature Review.

Unnecessary dilution of ready-to-administer (RTA) syringes could increase the risk of patient harm attributed to errors related to incorrect dose, improper labeling, and the potential for microbial contamination. Although published guidelines endorse the use of commercially available RTA syringes, recent surveys indicate that best practices are not always implemented. The purpose of this article is to review the existing literature and to assess the incidence and nature of errors related to the unnecessary dilution of RTA intravenous (IV) push medications in the inpatient clinical setting.

Needs management in families affected by childhood-onset dystrophinopathies.

Purpose: To collect information about the needs of families affected by childhood-onset dystrophinopathies residing in the United States.

Methods: Individuals with an eligible dystrophinopathy were identified by the Muscular Dystrophy Surveillance, Tracking, and Research network. Between September 2008 and December 2012, 272 caregivers completed a 48-item survey about needs related to information, healthcare services, psychosocial issues, finances, caregiver demographics, and the individual's functioning.

Acquired ventricular septal defect due to infective endocarditis.

Acquired intracardiac left-to-right shunts are rare occurrences. Chest trauma and myocardial infection are well-known causes of acquired ventricular septal defect (VSD). There have been several case reports describing left ventricle to right atrium shunt after infective endocarditis (IE).

R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome.

Background: Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia (XLT), and X-linked neutropenia, which are caused by WAS mutations affecting Wiskott-Aldrich syndrome protein (WASp) expression or activity, manifest in immunodeficiency, autoimmunity, genomic instability, and lymphoid and other cancers. WASp supports filamentous actin formation in the cytoplasm and gene transcription in the nucleus. Although the genetic basis for XLT/WAS has been clarified, the relationships between mutant forms of WASp and the diverse features of these disorders remain ill-defined.