Long-term outcomes for females with early-onset dystrophinopathy.

Aim: To study long-term disease course for females with early-onset dystrophinopathy, including common (female) symptoms, challenges in social participation, the need for care, and current healthcare management to support guideline development.

Method: Twelve females with early-onset dystrophinopathy were followed for a median period of more than 17 years (range 1-36).

Results: One patient died owing to end-stage cardiac failure.

Epidemiology and management of nontuberculous mycobacterial disease in people with cystic fibrosis, the Netherlands.

Background: Nontuberculous mycobacteria (NTM) are opportunistic, difficult to treat pathogens. With increasing prevalence of NTM infections in people with cystic fibrosis (pwCF) and the improved life expectancy, the burden is expected to grow.

Methods: We assessed the epidemiology and management of NTM isolation and disease in pwCF in the Netherlands using a survey and retrospective, case-controlled data from the Dutch CF Registry.

The effect of individualized iron supplementation on iron status in Dutch preterm infants born between 32 and 35 weeks of gestational age: evaluation of a local guideline.

Objective: Iron deficiency (ID) and iron deficiency anemia (IDA) in early life are associated with adverse effects. Preterm infants are at risk for developing ID(A). Considering that not every preterm infant develops ID(A) and the potential risk of iron overload, indiscriminate iron supplementation in late preterm infants is debatable.

Objective Home-Monitoring of Physical Activity, Cardiovascular Parameters, and Sleep in Pediatric Obesity.

Introduction: Clinical research and treatment of childhood obesity is challenging, and objective biomarkers obtained in a home-setting are needed. The aim of this study was to determine the potential of novel digital endpoints gathered by a home-monitoring platform in pediatric obesity.

Methods: In this prospective observational study, 28 children with obesity aged 6-16 years were included and monitored for 28 days.

Efficacy and safety of switching from intravenous to oral antibiotics (amoxicillin-clavulanic acid) versus a full course of intravenous antibiotics in neonates with probable bacterial infection (RAIN): a multicentre, randomised, open-label, non-inferiority trial.

Background: Switching from intravenous antibiotic therapy to oral antibiotic therapy among neonates is not yet practised in high-income settings due to uncertainties about exposure and safety. We aimed to assess the efficacy and safety of early intravenous-to-oral antibiotic switch therapy compared with a full course of intravenous antibiotics among neonates with probable bacterial infection.

Methods: In this multicentre, randomised, open-label, non-inferiority trial, patients were recruited at 17 hospitals in the Netherlands.

The Management of Post-appendectomy Abscess in Children; A Historical Cohort Study and Update of the Literature.

Introduction: Recent studies have shown that specific cases of post-appendectomy abscess (PAA) in children could be treated conservatively. However, due to the lack of high-quality evidence, choice of treatment still depends on preferences of the treating surgeon, leading to heterogeneity in clinical practice. Therefore, we aimed to provide an update of recent literature on the management of PAA in children and subsequently evaluate the outcomes of a large multicenter cohort of children treated for PAA.

Prevalence of inflicted and neglectful femur shaft fractures in young children in national level I trauma centers.

Background: The prevalence of inflicted femur fractures in young children varies (1.5-35.2%), but these data are based on small retrospective studies with high heterogeneity.

Variants in cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Loss-of-function variants in () cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression. PHF8-XLID is an under-characterized disorder with only five previous reports describing different predicted loss-of-function variants in eight individuals.

Parental and physician's point-of-view towards antibiotic prescriptions and discharge conversations in the pediatric emergency department.

Background: Within Europe, the Netherlands has one of the lowest antibiotic consumption rates. We aimed to gain insight into attitudes of Dutch physicians and parents towards information provided during discharge conversations in the emergency department (ED) and towards antibiotic use in children, in order to obtain information on the assumptions and beliefs that underlie a practice of low prescription rates.

Methods: Discharge conversations of 70 children presenting with an infectious disease at the ED were observed.

AKT Hyperphosphorylation and T Cell Exhaustion in Down Syndrome.

Down syndrome (DS) is associated with increased susceptibility to infections, auto-immunity, immunodeficiency and haematological malignancies. The exact underlying immunological pathophysiology is still unclear. The immunophenotype and clinical characteristics of DS resemble those of Activated PI3K Delta Syndrome (APDS), in which the PI3K/AKT/mTOR pathway is overactivated.

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.

Aim: Loss-of-function KCNMA1 variants cause Liang-Wang syndrome (MIM #618729), a newly identified multiple malformation syndrome with a broad spectrum of developmental and neurological phenotypes. However, the full spectrum of clinical features and underlying pathogenic mechanisms need full elucidation.

Methods: Exome sequencing was used to identify pathogenic variants.

The new European resuscitation council guidelines on newborn resuscitation and support of the transition of infants at birth: An educational article.

In this educational article, we summarize the changes in the new European Resuscitation Council guidelines on Newborn Resuscitation and Support of the Transition of Infants at Birth, emphasizing important aspects for the pediatric anesthesiologist including umbilical cord management, airway management, inflation pressure, and oxygen in relation with gestational age and situation. Using a fictitious case to illustrate the main points, we give a summary of the changes and the evidence behind them.

Development and technical validation of a smartphone-based pediatric cough detection algorithm.

Introduction: Coughing is a common symptom in pediatric lung disease and cough frequency has been shown to be correlated to disease activity in several conditions. Automated cough detection could provide a noninvasive digital biomarker for pediatric clinical trials or care. The aim of this study was to develop a smartphone-based algorithm that objectively and automatically counts cough sounds of children.

New European Resuscitation Council guidelines for pediatric life support and their implications for pediatric anesthesia: An educational article.

In this educational article, we summarize the changes in the new European Resuscitation Council guidelines for Pediatric Life Support, emphasizing the most important aspects for the anesthesiologist. Among these are: the use of two-thumb-encircling technique for thorax compressions in infants, 10 ml/kg as the standard volume fluid bolus and ventilation after intubation at an age-dependent rate. Using a fictitious case, we present a point-by-point summary of the changes and briefly mention some of the evidence behind them, referring the reader to the full guidelines for further evidence.

Prevalence of Zinc Deficiency in Healthy 1-3-Year-Old Children from Three Western European Countries.

Zinc deficiency (ZnD) has adverse health consequences such as stunted growth. Since young children have an increased risk of developing ZnD, it is important to determine its prevalence and associated factors in this population. However, only a few studies have reported on ZnD prevalence in young children from Western high-income countries.

Effect of INTELLiVENT-ASV versus Conventional Ventilation on Ventilation Intensity in Patients with COVID-19 ARDS-An Observational Study.

Driving pressure (ΔP) and mechanical power (MP) are associated with outcomes in critically ill patients, irrespective of the presence of Acute Respiratory Distress Syndrome (ARDS). INTELLiVENT-ASV, a fully automated ventilatory mode, controls the settings that affect ΔP and MP. This study compared the intensity of ventilation (ΔP and MP) with INTELLiVENT-ASV versus conventional ventilation in a cohort of COVID-19 ARDS patients in two intensive care units in the Netherlands.

Population pharmacokinetics of clonazepam in saliva and plasma: Steps towards noninvasive pharmacokinetic studies in vulnerable populations.

Aim: Traditional studies focusing on the relationship between pharmacokinetics (PK) and pharmacodynamics necessitate blood draws, which are too invasive for children or other vulnerable populations. A potential solution is to use noninvasive sampling matrices, such as saliva. The aim of this study was to develop a population PK model describing the relationship between plasma and saliva clonazepam kinetics and assess whether the model can be used to determine trough plasma concentrations based on saliva samples.

Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency.

Context: Hydrocortisone treatment of young patients with 21-hydroxylase deficiency (21OHD) is given thrice daily, but there is debate about the optimal timing of the highest hydrocortisone dose, either mimicking the physiological diurnal rhythm (morning), or optimally suppressing androgen activity (evening).

Objective: We aimed to compare 2 standard hydrocortisone timing strategies, either highest dosage in the morning or evening, with respect to hormonal status throughout the day, nocturnal blood pressure (BP), and sleep and activity scores.

Methods: This 6-week crossover study included 39 patients (aged 4-19 years) with 21OHD.

High prevalence of non-accidental trauma among deceased children presenting at Level I trauma centers in the Netherlands.

Purpose: Between 0.1-3% of injured children who present at a hospital emergency department ultimately die as a result of their injuries. These events are typically reported as unnatural causes of death and may result from either accidental or non-accidental trauma (NAT).

Saliva as a sampling matrix for therapeutic drug monitoring of gentamicin in neonates: A prospective population pharmacokinetic and simulation study.

Aims: Therapeutic drug monitoring (TDM) of gentamicin in neonates is recommended for safe and effective dosing and is currently performed by plasma sampling, which is an invasive and painful procedure. In this study, feasibility of a non-invasive gentamicin TDM strategy using saliva was investigated.

Methods: This was a multicentre, prospective, observational cohort study including 54 neonates.