Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort.

Objective: To evaluate the diagnostic yield of exome sequencing (ES) in fetuses and neonates with prenatally detected congenital diaphragmatic hernia (CDH) and normal copy number variant (CNV) analysis.

Methods: We conducted a retrospective cohort study of prenatally diagnosed CDH cases seen between 2019 and 2022. All cases who underwent prenatal or postnatal genetic testing were reviewed.

European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis.

Background: The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care.

Method: A systematic literature search including 136 publications was conducted. Research findings were assessed following the GRADE methodology.

Regularized and Opposite Spin-Scaled Functionals from Møller-Plesset Adiabatic Connection─Higher Accuracy at Lower Cost.

Noncovalent interactions (NCIs) play a crucial role in biology, chemistry, material science, and everything in between. To improve pure quantum-chemical simulations of NCIs, we propose a methodology for constructing approximate correlation energies by combining an interpolation along the Møller-Plesset adiabatic connection (MP AC) with a regularization and spin-scaling strategy applied to MP2 correlation energies. This combination yields κ-SPL2, which exhibits superior accuracy for NCIs compared to any of the individual strategies.

Prenatal assessment of pulmonary vasculature development in fetuses with congenital diaphragmatic hernia: A literature review.

Pathophysiological studies have shown that pulmonary vascular development is impaired in fetuses with a congenital diaphragmatic hernia (CDH), leading to a simplified vascular tree and increased vascular resistance. Multiple studies have described prenatal ultrasound parameters for the assessment of the pulmonary vasculature, but none of these parameters are used in daily clinical practice. We provide a comprehensive review of the literature published between January 1990 and February 2022 describing these parameters, and aim to explain the clinical relevance of these parameters from what is known from pathophysiological studies.

Return to Sport After Operative Fixation of Midshaft Clavicle Fractures in Professional Jockeys.

Objective: Clavicle fractures are the most commonly observed fracture sustained in professional horse racing. This study is the first to report on time lost from injury and functional recovery after surgical fixation of midshaft clavicle fractures in professional jockeys.

Design: Retrospective cohort study.

Longitudinal Health Status and Quality of Life in Congenital Diaphragmatic Hernia.

Objectives: To longitudinally evaluate self-reported health status (HS) and quality of life (QoL) in 8- and 12-year-old survivors of congenital diaphragmatic hernia (CDH). We hypothesized that HS would improve with age-as associated health problems tend to decline-whereas QoL would decrease, as the children start to compare themselves with peers.

Methods: Self-reported HS and QoL of 133 children born between 1999 and 2013 who had joined our standardized follow-up program were routinely assessed at the ages of 8 and 12 with generic, internationally validated, standardized instruments.

Survival in very preterm infants with congenital diaphragmatic hernia and association with prenatal imaging markers: A retrospective cohort study.

Objectives: To describe the outcomes of preterm born infants with congenital diaphragmatic hernia (CDH; ≤32.0 weeks of gestation) and the associations between prenatal imaging markers and survival.

Design: Retrospective cohort study.

Neuropsychological outcome in survivors of congenital diaphragmatic hernia at 5 years of age, what does it tell?

Previous studies have frequently reported neurocognitive deficits in children born with congenital diaphragmatic hernia (CDH) at school age, which may contribute to academic difficulties. Yet, age at onset of these deficits is currently unknown. We evaluated neurocognitive skills with possible determinants in preschool children born with CDH.

Termination of pregnancy after a prenatal diagnosis of congenital diaphragmatic hernia: Factors influencing the parental decision process.

Objective: To evaluate the incidence of termination of pregnancies (TOP) and factors associated with the decision for TOP in prenatally detected congenital diaphragmatic hernia (CDH).

Study Design: Single-centre retrospective cohort includes all prenatally detected CDH cases born between January 2009 and December 2021. Parental factors, such as parity, and fetal characteristics, such as disease severity, were collected.

Prenatal Ultrasound Parameters of Twins With Sagittal Suture Craniosynostosis Question Mechanical Constraint as the Leading Cause.

Background: Multiple pregnancy is a known predisposing factor for sagittal suture synostosis, and intrauterine constraint has been suggested as a potential cause. This study evaluates prenatal images of single and multiple pregnancies of children with sagittal suture synostosis to assess the possible pathogenesis.

Materials And Methods: Prenatal ultrasound data of scaphocephaly twins treated at Erasmus MC was retrieved retrospectively.

Prenatal stomach position and volume in relation to postnatal outcomes in left-sided congenital diaphragmatic hernia.

Objective: To examine the association between prenatal stomach position (SP) grade and stomach volume (SV) and the need for pulmonary hypertension (PH) treatment after birth in prenatally diagnosed left-sided congenital diaphragmatic hernia (CDH), live born >34 weeks.

Methods: In retrospect, SP grade and SV were determined in fetuses with isolated left-sided CDH from 19 weeks gestational age (GA) onwards at three different time periods (≤24 weeks' GA: US1, 24-30 weeks' GA: US2; ≥30 weeks' GA: US3). Primary outcome was need for treatment of PH after birth.

Validation of a Prediction Rule for Mortality in Congenital Diaphragmatic Hernia.

Background: Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly with a mortality of ∼27%. The Congenital Diaphragmatic Hernia Study Group (CDHSG) developed a simple postnatal clinical prediction rule to predict mortality in newborns with CDH. Our aim for this study is to externally validate the CDHSG rule in the European population and to improve its prediction of mortality by adding prenatal variables.

Rapid Lump Examination (RLE) - a bedside 3-dimensional microscopy of tumor specimens.

Background: Due to rising skin cancer incidence rates there is an urgent need for a quick, reliable and cost-effective therapy. Previous studies showed that fresh tumor tissue and margins could be directly examined microscopically with high sensitivity and specificity.

Objective: Comparing the accuracy of rapid lump examination (RLE) for the detection of basal cell carcinoma (BCC) during micrographic surgery with formalin-fixed paraffin-embedded hematoxylin and eosin (HE)-stained sections.

The validity of the viscero-abdominal disproportion ratio for type of surgical closure in all fetuses with an omphalocele.

Objective: To determine the predictive value of the fetal omphalocele circumference/abdominal circumference (OC/AC) ratio for type of surgical closure and survival and to describe the trajectory of OC/AC ratio throughout gestation.

Methods: This cohort study included all live-born infants prenatally diagnosed with an omphalocele in our tertiary centre (2000-2017) with an intention to treat. The OC/AC ratio and liver position were determined using 2D ultrasound at three periods during gestation (11-16, 17-26, and/or 30-38 weeks).

Omphalocele: from diagnosis to growth and development at 2 years of age.

Objectives: To compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical growth and neurodevelopment in children with minor or giant omphalocele up to 2 years of age.

Design: We included fetuses and neonates diagnosed in 2000-2012. Physical growth (SD scores, SDS) and mental and motor development at 12 and 24 months were analysed using general linear models, and outcomes were compared with reference norms.

The validity of the observed-to-expected lung-to-head ratio in congenital diaphragmatic hernia in an era of standardized neonatal treatment; a multicenter study.

Objective: To assess the predictive value of observed-to-expected lung-to-head ratio (O/E LHR) for survival and chronic lung disease (CLD) in survivors of left-sided congenital diaphragmatic hernia (CDH) in an era of standardized neonatal treatment, and to evaluate the predictive value of the O/E LHR trajectory for survival.

Methods: This retrospective cohort study was performed in two high-volume CDH centers in the Netherlands in prenatally detected, isolated left-sided CDH patients born between 2008 and 2014. O/E LHR and liver position were determined using 2D-ultrasonography at three time points during gestation from 19 weeks onwards.

Prenatal Prediction of the Type of Omphalocele Closure by Different Medical Consultants.

Introduction: To evaluate differences between consultants of different disciplines in the prenatal prediction of the type of postnatal surgical closure of an omphalocele.

Material And Methods: Twenty-one images of prenatally detected omphaloceles prior to 24 weeks of gestation were included. A standardized form provided known prenatal information and an ultrasound image for each case.

The relation between viscero-abdominal disproportion and type of omphalocele closure.

Objective: To investigate the relation between prenatal ultrasound measurements of viscero-abdominal disproportion and the expected type of postnatal surgical closure of an omphalocele.

Study Design: Retrospectively, 24 fetuses diagnosed with an isolated omphalocele in the 2nd trimester of pregnancy were selected (period 2003-2013). An image of the axial plane of the abdomen at the level of the defect was retrieved.

Electroencephalography during normotensive and hypertensive pregnancy: a systematic review.

Unlabelled: The objective of this review was to evaluate the available medical literature concerning the electroencephalogram (EEG) during hypertensive disorders of pregnancy. All articles found during a MEDLINE and Embase database search on the subject of EEG differences associated with hypertensive disorders in pregnancy were screened for eligibility. In all, 22 articles which describe the EEG during preeclampsia (PE)/eclampsia were retrieved.

Well being of obstetric patients on minimal blood transfusions (WOMB trial).

Background: Primary postpartum haemorrhage is an obstetrical emergency often causing acute anaemia that may require immediate red blood cell (RBC) transfusion. This anaemia results in symptoms such as fatigue, which may have major impact on the health-related quality of life. RBC transfusion is generally thought to alleviate these undesirable effects although it may cause transfusion reactions.

Carbetocin for the prevention of postpartum hemorrhage: a systematic review.

The objective of this review was to evaluate the efficacy and safety of carbetocin in the prevention of postpartum hemorrhage. All trials found during a targeted Medline and Cochrane database search were screened for eligibility. Outcome measures were estimated blood loss, uterine tone, amount and type of lochia, fundal position after delivery (number of centimeters above or below the umbilicus), side-effects, adverse effects, vital signs, levels of hemoglobin/hematocrit before delivery compared with 24 or 48 hours postpartum, the need for additional uterotonic therapy, and/or uterine massage and duration of the third stage of labor.

Plasmacytoid dendritic cells limit viral replication, pulmonary inflammation, and airway hyperresponsiveness in respiratory syncytial virus infection.

Plasmacytoid dendritic cells (pDC), as major producers of IFN-alpha, are thought not only to be pivotal in antiviral immunity, but also to limit allergic inflammation. In this study, we delineate the role of pDC in a mouse model of respiratory syncytial virus (RSV)-induced airway inflammation. Bone marrow-derived pDC generated high levels of IFN-alpha upon RSV infection, and the percentage of pDC expressing MHC class II and maturation-associated costimulatory molecules was increased.