DNA-poli: Design and development of a digital platform for family communication support and predictive genetic counseling on inherited diseases.

Objectives: By developing a digital platform ("DNA-poli") we aim to improve the uptake and efficiency of predictive genetic counseling and cascade testing for relatives at-risk of inherited conditions. This is crucial for reducing disease morbidity and mortality while meeting the growing demand for genetic counseling. We outline the design, development, and final concept and prototype of DNA-poli and discuss the challenges faced and how these were addressed.

Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.

Objective: We aim to increase knowledge on pregnancy and delivery risks in vascular Ehlers-Danlos Syndrome (vEDS). Our outcomes can contribute to establishing future guidelines for pregnancy and delivery management in women with vEDS.

Design: Retrospective multicentre cohort study.

removal of pro-fibrotic collagen and rescue of metabolic function in human ovarian fibrosis.

Tissue fibrosis, with the excessive accumulation of extracellular matrix, leads to organ dysfunction. The ovary shows signs of fibrosis from an early age, creating a permissive environment for ovarian cancer. A robust culture-platform to study human ovarian fibrosis would enable screens for antifibrotic drugs to prevent or even reverse this process.

*Co-Occurrence and Causality Among ADHD, Dyslexia, and Dyscalculia.

ADHD, dyslexia, and dyscalculia often co-occur, and the underlying continuous traits are correlated (ADHD symptoms, reading, spelling, and math skills). This may be explained by trait-to-trait causal effects, shared genetic and environmental factors, or both. We studied a sample of ≤ 19,125 twin children and 2,150 siblings from the Netherlands Twin Register, assessed at ages 7 and 10.

'Mind the Gap'-A Survey on Care Gaps and Priorities for the Transition to Adult Healthcare According to Caregivers of Young People With Rare Conditions Associated With Intellectual Disability.

Background: For young people with rare conditions associated with intellectual disability, the transfer from paediatric to adult healthcare providers is often complicated. European Reference Network ERN-ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) on Rare Congenital Malformations and Rare Intellectual Disability aims to develop a clinical practice guideline to improve this transition. The aim of this study was to identify which aspects of the transition to adult care matter most and to describe the current care gap as experienced by European caregivers to inform the guideline scope.

Improving Outcomes in Mental Health (IOMH)-an Australian longitudinal clinical study of families with children with neurodevelopmental problems: cohort profile.

Purpose: Children with neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) face a range of challenges which impact their daily functioning and that of their family. NDDs are often associated with significant mental health problems which can influence the course. The Improving Outcomes in Mental Health cohort described in this article aims to investigate the risk factors for the persistence and severity of mental health problems in children with NDDs.

Mebeverine and the Influence of Labeling in Adolescents With Irritable Bowel Syndrome or Functional Abdominal Pain Not Otherwise Specified: A 2 × 2 Randomized, Placebo-Controlled Trial.

Background & Aims: Pediatric irritable bowel syndrome and functional abdominal pain-not otherwise specified lack effective pharmacologic interventions. The efficacy of mebeverine, an antispasmodic agent, and the effect of labeling within a pediatric cohort were evaluated.

Methods: This randomized trial was conducted across 13 hospitals.

Maternal Factors During Pregnancy and Pubertal Timing in Offspring: A Systematic Review of the Literature.

Purpose: This systematic review aims to identify, assess the quality of, and synthesize evidence on nongenetic maternal factors, such as psychological factors, lifestyle, nutrition, and endocrine conditions that may be associated with pubertal timing in male and female offspring.

Methods: The search was conducted in Medline, Embase, PsycInfo and Web of Science. The reference lists of retrieved articles were checked to avoid missing relevant studies.

Choosing for a Homebirth during COVID-19 Lockdown in The Netherlands, who and why: A national prospective questionnaire study.

Objective: During the first COVID-19 lockdown in the Netherlands (9 March-1 June 2020), the homebirth rate increased from 27 % to 37 % among women with low-risk pregnancies starting labour in primary midwife-led care (overall population: 15 % in 2020). We explored characteristics and motivations of women who change their preference from a hospital birth to a home birth.

Design: A nationwide prospective online questionnaire.

Atosiban versus placebo for threatened preterm birth (APOSTEL 8): a multicentre, randomised controlled trial.

Background: Tocolytics are recommended in international guidelines as treatment for threatened preterm birth. Atosiban, an oxytocin receptor antagonist, is a registered tocolytic drug specifically indicated for the treatment of threatened preterm birth. Although tocolytics have been shown to delay birth, benefits on neonatal outcomes have not been demonstrated.

The effect of an exam-indicated cerclage before 24 weeks of gestation to prevent preterm birth: A systematic review and meta-analysis.

The effect of an exam-indicated cerclage (EIC) remains uncertain due to limited evidence from reviews covering pregnancies beyond this timeframe. With the 24-week mark serving as an international threshold for neonatal care initiation, the aim of this systematic review was to evaluate the available literature on the effectiveness of an EIC before 24 weeks of gestation. MEDLINE, EMBASE, Web of Science, CENTRAL, clinicaltrials.

Hysteroscopic niche resection can effectively reduce the niche volume, increase residual myometrial thickness, and improve postmenstrual spotting symptoms.

Purpose: To compare the anatomical changes of the uterine niche in women before and after hysteroscopic niche resection (HNR) and to investigate the correlation between these changes and the improvement in postoperative spotting symptoms by thin-slice MRI.

Methods: This prospective observational study enrolled women with symptomatic uterine niches between June 2019 and February 2024. All participants underwent thin-slice magnetic resonance imaging (MRI) before and after HNR.

Blood pressure patterns of gestational hypertension or non-severe pre-eclampsia beyond 36 weeks' gestation and the adverse maternal outcomes: Secondary analysis of the HYPITAT study.

Objectives: To identify patterns in changes of blood pressure for women with gestational hypertension (GH) or non-severe pre-eclampsia (PE) beyond 36 gestational weeks, and assess their association with a composite adverse maternal outcome.

Study Design: Secondary analysis of a randomized controlled trial (HYPITAT).

Main Outcome Measures: We investigated patterns of one-week blood pressure changes post-admission, explored factors contributing to diverse patterns using ANOVA and Chi-square tests, and assessed the correlation between these patterns and a composite adverse maternal outcome defined as severe maternal morbidity, mortality, post-partum hemorrhage and cesarean section.

Evaluation of Electrospun Poly-4-Hydroxybutyrate as Biofunctional and Degradable Scaffold for Pelvic Organ Prolapse in a Vaginal Sheep Model.

Pelvic organ prolapse (POP) affects many women, especially after menopause. POP occurs due to the descent of weakened supportive tissue. Current prolapse surgeries have high failure rates, due to disturbed wound healing caused by lower tissue regeneration and estrogen depletion.

The TANGO-DM randomized controlled trial study protocol: treatment outcomes for gestational diabetes diagnosed according to WHO 2013 or WHO 1999 thresholds.

Introduction: Gestational diabetes mellitus (GDM), or hyperglycemia first diagnosed in pregnancy, affects 7-10% of all pregnancies worldwide. Perinatal risk rises with increasing glycemia at oral glucose tolerance test (OGTT). The new (2013) WHO criteria recommend a lower fasting, and a higher post-load threshold for GDM diagnosis in comparison to the old (1999) WHO criteria.

Improved neonatal outcome following induction of labour using 25 µg versus 50 µg oral Misoprostol: A retrospective, comparative cohort study.

Objective: to compare maternal and neonatal outcomes using 25 µg 2-hourly and 50 µg 4-hourly oral Misoprostol for induction of labour (IOL) DESIGN: observational study SETTING: Tertiary care center, Amsterdam UMC, location VUmc, The Netherlands POPULATION: Women with a vital singleton pregnancy between 37+0 and 42+0-weeks of pregnancy with an indication for IOL with oral Misoprostol.

Methods: Retrospective cohort study using anonymous data from the Amsterdam UMC from 2016 to 2021. The current procedure (25 µg every 2 h, June 2018-March 2021) was compared to the former procedure (50 µg every 4 h, March 2016-May 2018).

AUTS2-related syndrome: Insights from a large European cohort.

Purpose: AUTS2-related syndrome is characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters, AUTS2 encodes 2 distinct long and short isoforms encoding a putative transcriptional activator.

Methods: Through a European collaborative study, we collected clinical and genotype data on the largest AUTS2-related syndrome cohort of 58 patients harboring genomic rearrangements or single-nucleotide variants (SNVs).

Hypothyroidism in Infants after Enteral Administration of Iodinated Contrast Media: A Rare but Serious Complication.

Introduction: Excessive exposure to iodine early in life can cause primary hypothyroidism by failure to escape the Wolff-Chaikoff effect. Although reported for intravenous iodinated contrast medium (ICM) and topical iodine, prospective studies on thyroid function after enterally administered ICM are lacking. This study aimed to determine the occurrence of hypothyroidism after enteral ICM administration in young infants.

Effects of Anesthesia and Surgery on the Morphologic and Functional Development of the Premature Neonatal Brain: A Systematic Review and Meta-Analysis.

The percentage of preterm infants requiring surgery before 44 weeks of postmenstrual age (PMA) varies between 19% and 36%. The potential impact of general anesthesia on the vulnerable developing brain of preterm infants remains unknown. A systematic review and meta-analysis on the impact of general anesthesia on brain integrity and neurodevelopmental outcomes in preterm infants undergoing surgery before 44 weeks PMA was conducted.

Long-term risk of endometrial cancer after assisted reproductive technology.

Study Question: What is the risk of endometrial cancer after long-term follow-up in women treated with ART between 1983 and 2001 compared with women in the general population and subfertile women who did not undergo ART?

Summary Answer: The risk of endometrial cancer is not increased in women who underwent ART in the Netherlands between 1983 and 2001, neither compared with women from the general population nor compared with subfertile women not treated with ART.

What Is Known Already: Concerns have been raised that subfertility treatment may be associated with increased risk of endometrial cancer. However, published studies show inconsistent results regarding the effects of ovarian stimulation and specific subfertility diagnoses on endometrial cancer risk.

Advances in tissue engineering of peripheral nerve and tissue innervation - a systematic review.

Although various options are available to treat injured organs and peripheral nerves, none is without limitations. Auto- and allografts are the first choice of treatment, but tissue survival or functionality is not guaranteed due to often limited vascular and neural networks. In response, tissue-engineered solutions have been developed, yet clinical translations is rare.

Consecutive prediction of adverse maternal outcomes of preeclampsia, using the PIERS-ML and fullPIERS models: A multicountry prospective observational study.

Background: Preeclampsia is a potentially life-threatening pregnancy complication. Among women whose pregnancies are complicated by preeclampsia, the Preeclampsia Integrated Estimate of RiSk (PIERS) models (i.e.