Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes: A qualitative study.

Objective: To explore the perspectives of pregnant women on broadening the scope of noninvasive prenatal testing (NIPT) from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes.

Methods: Four online focus groups (n = 23 participants) and 14 individual semi-structured interviews were conducted. Participants included pregnant women with and without a history of adverse pregnancy outcomes.

The outcomes of children born to mothers with autoimmune rheumatic diseases.

Maternal autoimmune rheumatic diseases can influence the outcomes of children through several life stages. During pregnancy, maternal inflammation and autoantibodies can hinder fetal development and lead to growth restriction, preterm birth, and low birth weight; prematurity, especially at extreme gestational ages, can in turn impair future child health. Treatment with compatible immunomodulatory drugs and preventive medications aims to keep maternal disease under control and minimise the risk of adverse pregnancy outcomes.

Developmental anatomy of the thalamus, perinatal lesions, and neurological development.

The thalamic nuclei develop before a viable preterm age. GABAergic neuronal migration is especially active in the third trimester. Thalamic axons meet cortical axons during subplate activation and create the definitive cortical plate in the second and third trimesters.

The Management of Dietary Fiber Intake in Children With Chronic Kidney Disease - Clinical Practice Recommendations From the Pediatric Renal Nutrition Taskforce.

The benefits of dietary fiber are widely accepted. Nevertheless, a substantial proportion of children fail to meet the recommended intake of dietary fiber. Achieving adequate fiber intake is especially challenging in children with chronic kidney disease (CKD).

A systematic review on safety and surgical and anesthetic risks of elective abdominal laparoscopic surgery in infants to guide laparoscopic ovarian tissue harvest for fertility preservation for infants facing gonadotoxic treatment.

Background: Infertility is an important late effect of childhood cancer treatment. Ovarian tissue cryopreservation (OTC) is established as a safe procedure to preserve gonadal tissue in (pre)pubertal girls with cancer at high risk for infertility. However, it is unclear whether elective laparoscopic OTC can also be performed safely in infants <1 year with cancer.

Exploring functional strength changes during nusinersen treatment in symptomatic children with SMA types 2 and 3.

The Hammersmith Functional Motor Scale-Expanded (HFMSE) is a validated outcome measure for monitoring changes in functional strength in patients with spinal muscular atrophy (SMA). The objective of this study was to explore changes in HFMSE item-scores in children with SMA types 2 and 3a treated with nusinersen over a period of six to twenty months. We stratified patients according to motor ability (sitting and walking), and calculated numbers and percentages for each specific improvement (positive score change) or decrease (negative score change) for the total group and each subgroup and calculated frequency distributions of specific score changes.

Dolphin CONTINUE: a multi-center randomized controlled trial to assess the effect of a nutritional intervention on brain development and long-term outcome in infants born before 30 weeks of gestation.

Background: Preterm born infants are at risk for brain injury and subsequent developmental delay. Treatment options are limited, but optimizing postnatal nutrition may improve brain- and neurodevelopment in these infants. In pre-clinical animal models, combined supplementation of docosahexaenoic acid (DHA), choline, and uridine-5-monophosphate (UMP) have shown to support neuronal membrane formation.

Identifying outcomes and outcome measures in neonatal family-centered care trials: a systematic review.

Background: A wide range of outcomes for infants and parents has been reported in clinical trials testing FCC interventions. This systematic review aimed to identify outcomes, outcome measures, and time-points reported in experimental studies testing FCC interventions in neonatal care units.

Methods: This review included experimental studies investigating FCC interventions in neonatal settings.

Highlight of 2023: Advances in pediatric immunology.

In this article for the Highlights of 2023 Series, significant advancements in pediatric immunology are discussed, focusing on new diagnostic and therapeutic approaches. Key studies include the integration of genomic and proteomic profiling for better diagnosis of inborn errors of immunity, the impact of nongenetic factors such as autoantibodies on immune responses, the promising use of Janus kinase inhibitors and chimeric antigen receptor-T cell therapy for treating immune deficiencies and autoimmune diseases and the potential for a curative approach using prime editing. These developments mark a shift toward personalized and precision medicine in pediatric immunology.

Brain MRI Injury Patterns across Gestational Age among Preterm Infants with Perinatal Asphyxia.

Introduction: Brain injury patterns of preterm infants with perinatal asphyxia (PA) are underreported. We aimed to explore brain magnetic resonance imaging (MRI) findings and associated neurodevelopmental outcomes in these newborns.

Methods: Retrospective multicenter study included infants with gestational age (GA) 24.

Evaluating the Baby@Home program: Early discharge strategies for (pre)term infants are safe and benefit health outcomes.

Aim: Prolonged hospitalisation in the neonatal intensive care unit (NICU) can emotionally tax newborn infants and their families, resulting in developmental adversities and inadequate parent-infant bonding. This study aimed to assess the feasibility and value of the Baby@Home program in reducing prolonged hospital stays.

Methods: This is a retrospective cohort study of 26 infants from a tertiary neonatology department, using qualitative data (gathered through interviews with parents (n = 15) and professionals (n = 5)) and quantitative data (retrieved from medical records and the Luscii application).

Standardization in paediatric echocardiographic reporting and critical interpretation of measurements, functional parameters, and prediction scores: a clinical consensus statement of the European Association of Cardiovascular Imaging of the European Society of Cardiology and the Association for European Paediatric and Congenital Cardiology.

This document has been developed to provide a guide for basic and advanced reporting in paediatric echocardiography. Furthermore, it aims to help clinicians in the interpretation of echocardiographic measurements and functional data for estimating the severity of disease in different paediatric age groups. The following topics will be reviewed and discussed in the present document: (i) the general principle in constructing a paediatric echocardiographic report, (ii) the basic elements to be included, and (iii) the potential and limitation of currently employed tools used for disease severity quantification during paediatric reporting.

Bladder exstrophy-epispadias complex: The effect of urotherapy on incontinence.

Introduction: Achieving urinary continence is a key goal in children born with the bladder exstrophy-epispadias complex (BEEC). Unfortunately, this goal is only moderately achieved despite sometimes extensive surgical treatment. Undergoing repeated hospitalization and operations may consequently have a negative impact on quality of life.

Neuroinflammatory markers at school age in preterm born children with neurodevelopmental impairments.

Background: Immune system activation in the neonatal period is associated with white matter injury in preterm infants. In animal studies, neonatal priming of the immune system leads to chronic activation of i.e.

Colonization of vancomycin-resistant in human-derived colonic epithelium: unraveling the transcriptional dynamics of host-enterococcal interactions.

is an opportunistic pathogen able to colonize the intestines of hospitalized patients. This initial colonization is an important step in the downstream pathogenesis, which includes outgrowth of the intestinal microbiota and potential infection of the host. The impact of intestinal overgrowth on host-enterococcal interactions is not well understood.

The use of in-hospital guidelines for prevention of sudden unexpected postnatal collapse: A national survey.

Aim: Sudden unexpected postnatal collapse is a life-threatening event and may occur in any newborn infant. Safe skin-to-skin contact, and awareness of sudden unexpected postnatal collapse are key to its prevention. The aim of this study was to survey the presence of skin-to-skin contact and/or sudden unexpected postnatal collapse protocols in the 70 perinatal centres in the Netherlands.

Joint ERS/EACTS/ESTS clinical practice guidelines on adults with spontaneous pneumothorax.

Background: The optimal management for spontaneous pneumothorax (SP) remains contentious, with various proposed approaches. This joint clinical practice guideline from the ERS, EACTS and ESTS societies provides evidence-based recommendations for the management of SP.

Methods: This multidisciplinary Task Force addressed 12 key clinical questions on the management of pneumothorax, using ERS methodology for guideline development.

Joint ERS/EACTS/ESTS clinical practice guidelines on adults with spontaneous pneumothorax.

Objectives: The optimal management for spontaneous pneumothorax (SP) remains contentious, with various proposed approaches. This joint clinical practice guideline from the ERS, EACTS and ESTS societies provides evidence-based recommendations for the management of SP.

Methods: This multidisciplinary Task Force addressed 12 key clinical questions on the management of pneumothorax, using ERS methodology for guideline development.

Association of CYP2D6 and CYP2C19 metabolizer status with switching and discontinuing antidepressant drugs: an exploratory study.

Background: Tailoring antidepressant drugs (AD) to patients' genetic drug-metabolism profile is promising. However, literature regarding associations of ADs' treatment effect and/or side effects with drug metabolizing genes CYP2D6 and CYP2C19 has yielded inconsistent results. Therefore, our aim was to longitudinally investigate associations between CYP2D6 (poor, intermediate, and normal) and CYP2C19 (poor, intermediate, normal, and ultrarapid) metabolizer-status, and switching/discontinuing of ADs.

Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey.

Variation in the non-coding genome is being increasingly recognized to be involved in monogenic disease etiology. However, the interpretation of non-coding variation is complicated by a lack of understanding of how non-coding genetic elements function. Additional lines of evidence are therefore needed to recognize non-coding variants as pathogenic.

Resting state electroencephalographic brain activity in neonates can predict age and is indicative of neurodevelopmental outcome.

Objective: Electroencephalography (EEG) can be used to estimate neonates' biological brain age. Discrepancies between postmenstrual age and brain age, termed the brain age gap, can potentially quantify maturational deviation. Existing brain age EEG models are not well suited to clinical cot-side use for estimating neonates' brain age gap due to their dependency on relatively large data and pre-processing requirements.

Total mesorectal excision in MRI-defined low rectal cancer: multicentre study comparing oncological outcomes of robotic, laparoscopic and transanal total mesorectal excision in high-volume centres.

Background: The routine use of MRI in rectal cancer treatment allows the use of a strict definition for low rectal cancer. This study aimed to compare minimally invasive total mesorectal excision in MRI-defined low rectal cancer in expert laparoscopic, transanal and robotic high-volume centres.

Methods: All MRI-defined low rectal cancer operated on between 2015 and 2017 in 11 Dutch centres were included.