Health-related quality of life in infants, toddlers and young children with sickle cell disease.

Background: Little is known about health-related quality of life (HRQoL) in young children with sickle cell disease living in a European country.

Methods: A retrospective cross-sectional evaluation of TNO-AZL Preschool Children Quality of Life questionnaire (TAPQOL, 0-1 year) and Pediatric Quality of Life Inventory (PedsQL, 2-7 years) data was conducted. Study participants included caregivers of children with sickle cell disease aged 0-7 years attending the sickle cell centre at the Erasmus Medical Center or the Amsterdam University Medical Centers between April 2012 and October 2020.

Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.

Tracheoesophageal Fistula (TOF) is a congenital anomaly for which the cause is unknown in the majority of patients. OA/TOF is a variable feature in many (often mono-) genetic syndromes. Research using animal models targeting genes involved in candidate pathways often result in tracheoesophageal phenotypes.

Metabolomics in early life and the association with body composition at age 2 years.

Background And Objectives: Early life is a critical window for adiposity programming. Metabolic-profile in early life may reflect this programming and correlate with later life adiposity. We investigated if metabolic-profile at 3 months of age is predictive for body composition at 2 years and if there are differences between boys and girls and between infant feeding types.

Anthropometrics and fat mass, but not fat-free mass, are compromised in infants requiring parenteral nutrition after neonatal intestinal surgery.

Background: Children with intestinal failure (IF) receiving long-term parenteral nutrition (PN) have altered body composition (BC), but data on BC changes from start of PN onwards are lacking.

Objectives: We aimed to assess growth and BC in infants after neonatal intestinal surgery necessitating PN and at risk of IF, and to explore associations with clinical parameters.

Methods: A prospective cohort study in infants after intestinal surgery.

Knowledge gaps in late-onset neonatal sepsis in preterm neonates: a roadmap for future research.

Late-onset neonatal sepsis (LONS) remains an important threat to the health of preterm neonates in the neonatal intensive care unit. Strategies to optimize care for preterm neonates with LONS are likely to improve survival and long-term neurocognitive outcomes. However, many important questions on how to improve the prevention, early detection, and therapy for LONS in preterm neonates remain unanswered.

Use of rotational thromboelastometry to predict hemostatic complications in pediatric patients undergoing extracorporeal membrane oxygenation: A retrospective cohort study.

Background: The incidence of hemostatic complications in pediatric patients undergoing extracorporeal membrane oxygenation (ECMO) is high. The optimal anticoagulation strategy in children undergoing ECMO is unknown.

Objectives: To study the association between hemostatic complications, coagulation tests, and clinical parameters in pediatric patients undergoing ECMO and their effect on survival.

Validity of an early parent-report questionnaire for language disorder in very preterm children from 2 to 10 years of age.

Background: Language problems at an early age in very preterm (VP) children can have a detrimental effect on other developmental domains and often persist throughout childhood. The aim of this study was to examine the concurrent and predictive validity of an early language parent-report questionnaire for language disorder in VP children from 2 to 10 years of age.

Materials And Methods: In 80 VP children (<32 weeks' gestation) without major disabilities, a parent-questionnaire and formal language assessment, both normed for the general population, were administered at 2 years corrected age (CA).

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.

Single genetic mutations predispose to very early onset inflammatory bowel disease (VEO-IBD). Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a 2-year-old girl with treatment-resistant pancolitis that was brought into remission by colectomy.

Long-term cortisol levels in hair of children and adolescents with Prader-Willi Syndrome.

Context: Prader-Willi syndrome (PWS) is characterized by hypothalamic dysfunction. In children with PWS, stress-induced central adrenal insufficiency (CAI) has been described, however, daily life cortisol production may be normal. Hair cortisol concentration (HCC) is a marker of long-term systemic cortisol production.

Anthropometry-based prediction of body composition in early infancy compared to air-displacement plethysmography.

Background: Anthropometry-based equations are commonly used to estimate infant body composition. However, existing equations were designed for newborns or adolescents. We aimed to (a) derive new prediction equations in infancy against air-displacement plethysmography (ADP-PEA Pod) as the criterion, (b) validate the newly developed equations in an independent infant cohort and (c) compare them with published equations (Slaughter-1988, Aris-2013, Catalano-1995).

Childhood trauma is associated with reduced frontal gray matter volume: a large transdiagnostic structural MRI study.

Background: Childhood trauma increases risk for psychopathology and cognitive impairment. Prior research mainly focused on the hippocampus and amygdala in single diagnostic categories. However, other brain regions may be impacted by trauma as well, and effects may be independent of diagnosis.

Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician.

Background: Pectus excavatum (PE) could be part of a genetic disorder, which then has implications regarding comorbidity, the surgical correction of PE, and reproductive choices. However, referral of a patient presenting with PE for genetic analysis is often delayed because additional crucial clinical signs may be subtle or even missed in syndromic patients. We reviewed the literature to inventory known genetic disorders associated with PE and create a standardized protocol for clinical evaluation.

Patient-relevant health outcomes for hemophilia care: Development of an international standard outcomes set.

Background: Patient-relevant health outcomes for persons with hemophilia should be identified and prioritized to optimize and individualize care for persons with hemophilia. Therefore, an international group of persons with hemophilia and multidisciplinary health care providers set out to identify a globally applicable standard set of health outcomes relevant to all individuals with hemophilia.

Methods: A systematic literature search was performed to identify possible health outcomes and risk adjustment variables.

Surgery in Neonatal and Pediatric ECMO Patients Other Than Congenital Diaphragmatic Hernia Repair: A 10-Year Experience.

The use of extracorporeal membrane oxygenation (ECMO) has increased as a result of technological developments and the expansion of indications. Relatedly, the number of patients undergoing surgery during ECMO is also rising, at least in the adult population. Little is known on surgery in children during ECMO-therapy.

Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1.

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that is associated with cognitive disabilities, including attention and motor learning problems. These disabilities have been extensively studied in children with NF1 but limited studies have been performed in adults.

Method: Attention, motor learning and intellectual performance were studied with neuropsychological tasks in 32 adults with NF1 and 32 controls.

Emicizumab Dosing in Children and Adults with Hemophilia A: Simulating a User-Friendly and Cost-Efficient Regimen.

Background: When emicizumab is dosed according to label, clinicians are obligated to discard or overdose medication due to discrepancies between calculated dose and vial content. The aim of this study was to compose a cost-efficient emicizumab maintenance dosing regimen using Monte Carlo simulation based on vial size, patient-friendly intervals, and patient characteristics, while striving for similar plasma concentrations as observed in clinical trials.

Methods: Monte Carlo simulations were used to investigate alternative dosing regimens in patients weighing 3 to 150 kg.

Lack of Cell Cycle Inhibitor p21 and Low CD4 T Cell Suppression in Newborns After Exposure to IFN-β.

Type I IFNs, such as interferon alpha and interferon beta, are key regulators of the adaptive immune response during infectious diseases. Type I IFNs are induced upon infection, bind interferon α/β receptors on T-cells and activate intracellular pathways. The activating and inhibitory consequences of type I IFN-signaling are determined by cell type and cellular environment.

Effects of 8 years of growth hormone treatment on scoliosis in children with Prader-Willi syndrome.

Objective: Scoliosis is frequently seen in children with Prader-Willi syndrome (PWS). There is still concern that growth hormone (GH) treatment might increase the risk of onset or progression of scoliosis. Short-term data suggested no adverse effects of GH on scoliosis, but long-term effects of GH treatment on development of scoliosis in PWS are unknown.

Appetite- and weight-inducing and -inhibiting neuroendocrine factors in Prader-Willi syndrome, Bardet-Biedl syndrome and craniopharyngioma versus anorexia nervosa.

Obesity is reaching an epidemic state and has a major impact on health and economy. In most cases, obesity is caused by lifestyle factors. However, the risk of becoming obese differs highly between people.

The performance of the heart rate variability-derived Newborn Infant Parasympathetic Evaluation Index as a measure of early postoperative pain and discomfort in infants-A prospective observational study.

Background: The heart rate variability-derived Newborn Infant Parasympathetic Evaluation (NIPE™) Index is a continuous noninvasive tool for the assessment of pain and discomfort in infants. Little is known about its performance in the early postoperative setting, where assessment of pain/discomfort is usually based on discontinuous observational scoring systems or personal experience of medical staff.

Aims: To investigate the performance of the NIPE as a measure of early postoperative pain and/or discomfort in infants.

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.

Appetite-regulating hormone trajectories and relationships with fat mass development in term-born infants during the first 6 months of life.

Background: The first 6 months of life are a critical window for adiposity programming. Appetite-regulating hormones (ARH) are involved in food intake regulation and might, therefore, play a role in adiposity programming. Studies examining ARH in early life are limited.