Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.

A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.

Nemaline myopathy (NM) is a congenital myopathy with generalised muscle weakness, most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross-sectional study was to assess the Dutch NM patient cohort. We assessed medical history, physical examination, quality of life (QoL), fatigue severity, motor function (MFM), and respiratory muscle function.

Challenges in e-Health: The effect of digitalisation of frequency voiding charts on compliance in paediatric patients. Randomised controlled trial comparing digital and versus paper frequency voiding charts.

Objective: Frequency voiding charts are commonly used to gain better insight into the voiding and drinking behaviours of patients with voiding symptoms. Non-compliance when filling out a chart is known to be high. The use of a digital application might increase adherence, but little research has been conducted on this topic.

A Systematic Approach to Evaluate Sudden Unexplained Death in Children.

Objective: To evaluate in the Netherlands the national outcomes in providing cause of and insights into sudden and unexplained child deaths among children via the Postmortem Evaluation of Sudden Unexplained Death in Youth (PESUDY) procedure.

Study Design: Children aged 0-18 years in the Netherlands who died suddenly were included in the PESUDY procedure if their death was unexplained and their parents gave consent. The PESUDY procedure consists of pediatric and forensic examination, biochemical, and microbiological tests; radiologic imaging; autopsy; and multidisciplinary discussion.

Short-term effects of an elimination diet and healthy diet in children with attention-deficit/hyperactivity disorder: a randomized-controlled trial.

An Elimination Diet (ED) may be effective in reducing symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD), but has never been compared to an active control condition [i.e., Healthy Diet (HD)].

Respiratory features of centronuclear myopathy in the Netherlands.

Centronuclear myopathy (CNM) is a heterogeneous group of muscle disorders primarily characterized by muscle weakness and variable degrees of respiratory dysfunction caused by mutations in MTM1, DNM2, RYR1, TTN and BIN1. X-linked myotubular myopathy has been the focus of recent natural history studies and clinical trials. Data on respiratory function for other genotypes is limited.

Uncertainty in complex healthcare settings - The need for a comprehensive approach.

Uncertainty is increasingly recognized as a crucial phenomenon throughout medical practice. Research on uncertainty so far has been scattered across disciplines, leading to a lack of consensus about what uncertainty represents and minimal integration of knowledge obtained within isolated disciplines. Currently, a comprehensive view of uncertainty which does justice to normatively or interactionally challenging healthcare settings is lacking.

Development and validation of a condition-specific quality of life instrument for adults with esophageal atresia: the SQEA questionnaire.

The importance of multidisciplinary long-term follow-up for adults born with esophageal atresia (EA) is increasingly recognized. Hence, a valid, condition-specific instrument to measure health-related quality of life (HRQoL) becomes imperative. This study aimed to develop and validate such an instrument for adults with EA.

Healthcare professionals' knowledge of the systematic ABCDE approach: a cross-sectional study.

Background: The Airway, Breathing, Circulation, Disability and Exposure (ABCDE) approach is a universal, priority-based approach for the assessment and treatment of critically ill patients. Although the ABCDE approach is widely recommended, adherence in practice appears to be suboptimal. The cause of this non-compliance is unknown.

The effect of continuous at-home training of minimally invasive surgical skills on skill retention.

Background: Skill deterioration of minimally invasive surgical (MIS) skills may be prevented by continuous training. The aim of this study is to evaluate whether unsupervised continuous at-home training of MIS skills results in better skill retention compared to no training.

Methods: Medical doctors followed a two-week interval training for two MIS tasks (precise peg transfer and interrupted suture with knot tying), ending with a baseline test.

Short-term pulmonary and systemic effects of hydrocortisone initiated 7-14 days after birth in ventilated very preterm infants: a secondary analysis of a randomised controlled trial.

Objective: Observational studies in preterm infants suggest that systemic hydrocortisone improves pulmonary condition but may also lead to systemic adverse effects. We report the short-term pulmonary and systemic effects of hydrocortisone initiated in the second week.

Design: Randomised placebo-controlled trial.

Sexual Self-Concept in Women with Disorders/Differences of Sex Development.

Many women born with disorders or differences of sex development (DSD) report sexual problems, in particular women who have undergone extensive genital reconstruction. Examining cognitions and emotions that hinder or promote sexuality may facilitate understanding these sexual problems and may contribute to the development of specific interventions. In this study, sexual self-concept, body image, and sexual functioning were investigated in relation to genital surgery.

A novel method to standardise serum IgA measurements shows an increased prevalence of IgA deficiency in young children with recurrent respiratory tract infections.

Objectives: While physicians are often confronted with immunoglobulin A (IgA) deficiency in children with recurrent infections, the clinical relevance of this finding is unclear. Large-scale studies examining the significance of IgA deficiency in children are hampered by differences in techniques for measuring IgA and the physiological increase of IgA with age. Both result in a variety of reference values used for diagnosing IgA deficiency.

Adherence to the ABCDE approach in relation to the method of instruction: a randomized controlled simulation study.

Background: The Airway, Breathing, Circulation, Disability, and Exposure (ABCDE) approach is widely recommended and taught in many resuscitation courses. This study assessed the adherence to the ABCDE algorithm and whether this was affected by the instruction method used to teach this approach.

Methods: Randomized controlled trial in which simulation was used as investigational method.

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

Centronuclear myopathy (CNM) is a genetically heterogeneous congenital myopathy characterized by muscle weakness, atrophy, and variable degrees of cardiorespiratory involvement. The clinical severity is largely explained by genotype (DNM2, MTM1, RYR1, BIN1, TTN, and other rarer genetic backgrounds), specific mutation(s), and age of the patient. The histopathological hallmark of CNM is the presence of internal centralized nuclei on muscle biopsy.

Training practices in neonatal and paediatric life support: A survey among healthcare professionals working in paediatrics.

Aim: To evaluate neonatal and paediatric life support training practices across Europe.

Methods: We conducted a descriptive study. Paediatric residents, general paediatricians, and subspecialists were surveyed to assess how paediatric basic and advanced life support (PBLS/PALS) and neonatal life support (NLS) are practically arranged and utilised throughout Europe.

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

Objective: To characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms, and signs, as well as associated disease burden.

Methods: We performed a cross-sectional online questionnaire study among XL-MTM carriers. Participants were recruited from patient associations, medical centers, and registries in the United Kingdom, Germany, and the Netherlands.

Bone mineral density during 3 years of growth hormone in previously GH-treated young adults with PWS.

Objective: In children with Prader-Willi syndrome (PWS), growth hormone (GH) treatment has positive effects on bone mineral density (BMD). Two 1-year studies did not show a difference between GH or placebo on BMD in young adults with PWS. However, there are no studies investigating BMD during longer-term GH treatment in young adults with PWS.

COVID-19: immunopathology, pathophysiological mechanisms, and treatment options.

Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), continues to spread globally despite the worldwide implementation of preventive measures to combat the disease. Although most COVID-19 cases are characterised by a mild, self-limiting disease course, a considerable subset of patients develop a more severe condition, varying from pneumonia and acute respiratory distress syndrome (ARDS) to multi-organ failure (MOF). Progression of COVID-19 is thought to occur as a result of a complex interplay between multiple pathophysiological mechanisms, all of which may orchestrate SARS-CoV-2 infection and contribute to organ-specific tissue damage.

Outcome of a thorough screening of lower urinary tract function in all pediatric kidney recipients.

LUTD is one of the possible factors influencing pediatric kidney graft outcomes. This study evaluates the results of a thorough assessment of voiding behavior in pediatric transplants. Data of patients with kidney disease of nephrological origin are compared to those with urological origin.

The use of SBAR as a structured communication tool in the pediatric non-acute care setting: bridge or barrier for interprofessional collaboration?

SBAR (Situation, Background, Assessment and Recommendation) is a structured method developed for communicating critical information that requires immediate action. In 2016 the SBAR tool was introduced at the Amalia Children's Hospital in the Netherlands to improve communication between healthcare workers. Despite formal training and the introduction of aids to facilitate implementation, observed adherence to the tool was low.

Peer-led pediatric resuscitation training: effects on self-efficacy and skill performance.

Background: Peer-led basic life support training in medical school may be an effective and valued way of teaching medical students, yet no research has been conducted to evaluate the effect on the self-efficacy of medical students. High self-efficacy stimulates healthcare professionals to initiate and continue basic life support despite challenges.

Methods: A randomized controlled trial, in which medical students received pediatric basic life support (PBLS) training, provided by either near-peer instructors or expert instructors.

Validation of an Instrument for Real-Time Assessment of Neonatal Intubation Skills: A Randomized Controlled Simulation Study.

Objective: This study aimed to evaluate the construct validity and reliability of real-time assessment of a previously developed neonatal intubation scoring instrument (NISI).

Study Design: We performed a randomized controlled simulation study at a simulation-based research and training facility. Twenty-four clinicians experienced in neonatal intubation ("experts") and 11 medical students ("novices") performed two identical elective intubations on a neonatal patient simulator.