Early Sagittal Shape of the Spine Predicts Scoliosis Development in a Syndromic (22q11.2DS) Population: A Prospective Longitudinal Study.

Background: Scoliosis is a deformation of the spine and trunk that, in its more severe forms, creates a life-long burden of disease and requires intensive treatment. For its most prevalent form, adolescent idiopathic scoliosis, no underlying condition can be defined, and the pathomechanism appears to be multifactorial; however, it has been suggested that the biomechanics of the spine play a role. For nonidiopathic scoliosis, underlying conditions can be recognized, but what drives the deformity remains unclear.

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.

Nonverbal Executive Functioning in Relation to Vocabulary and Morphosyntax in Preschool Children With and Without Developmental Language Disorder.

Purpose: Developmental language disorder (DLD) is characterized by persistent and unexplained difficulties in language development. Accumulating evidence shows that children with DLD also present with deficits in other cognitive domains, such as executive functioning (EF). There is an ongoing debate on whether exclusively verbal EF abilities are impaired in children with DLD or whether nonverbal EF is also impaired, and whether these EF impairments are related to their language difficulties.

Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome.

Background And Aim: Children with Developmental Language Disorder (DLD) are at an increased risk to develop behaviors associated with Autism Spectrum Disorder (ASD). The relationship between early language difficulties and the occurrence of ASD-related behaviors in DLD is poorly understood. One factor that may hinder progress in understanding this relationship is the etiological heterogeneity of DLD.

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.

Background: Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence.

A grounded theory study on the dynamics of parental grief during the children's end of life.

Aim: Parents are increasingly confronted with loss during their child's end of life. Healthcare professionals struggle with parental responses to loss. This study aimed to understand parental coping with grief during their child's end of life.

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.

Neddylation has been implicated in various cellular pathways and in the pathophysiology of numerous diseases. We identified four individuals with bi-allelic variants in NAE1, which encodes the neddylation E1 enzyme. Pathogenicity was supported by decreased NAE1 abundance and overlapping clinical and cellular phenotypes.

The Language Profile of Preschool Children With 22q11.2 Deletion Syndrome and the Relationship With Speech Intelligibility.

Purpose: Young children with 22q11.2 deletion syndrome (22q11DS) often have impaired language development and poor speech intelligibility. Here, we report a comprehensive overview of standardized language assessment in a relatively large sample of preschool-aged children with 22q11DS.

Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.

The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births.

22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis.

To better understand the etiology of idiopathic scoliosis, prospective research into the pre-scoliotic state is required, but this research is practically impossible to carry out in the general population. The use of 'models', such as idiopathic-like scoliosis established in genetically modified animals, may elucidate certain elements, but their translatability to the human situation is questionable. The 22q11.

Placenta Pathology From Term Born Neonates With Normal or Adverse Outcome.

Background: The incidence of umbilical cord or placental parenchyma abnormalities associated with mortality or morbidity of term infants is lacking.

Methods: Placentas of 55 antepartum stillbirths (APD), 21 intrapartum stillbirths (IPD), 12 neonatal deaths (ND), and 80 admissions to a level 3 neonatal intensive care unit (NS) were studied and compared with 439 placentas from neonates from normal term pregnancies and normal outcome after vaginal delivery (NPVD) and with 105 placentas after an elective caesarian sections (NPEC).

Results: NPVD and NPEC placentas showed no or one abnormality in 70% and placentas from stillbirth showed two or more abnormalities in 80% of cases.

The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis.

Background Context: For over four decades, clinicians and researchers have suggested a relationship between congenital heart disease (CHD) and scoliosis, attributed to either the disease itself or to the long-term effects of cardiac surgery on the immature thoracic cage. However, no study has yet accounted for 22q11.2 deletion syndrome (22q11.

Association of Maternal Prepregnancy Body Mass Index With Placental Histopathological Characteristics in Uncomplicated Term Pregnancies.

Introduction: Prepregnancy obesity is a growing global health problem and has several risks for mother and child. The aim of this study was to systematically examine the effect of increased maternal body mass index (BMI) on placental pathology in otherwise uneventful term pregnancies.

Methods: In this analysis, we studied data of the Netherlands Amniotic Fluid study, a prospective study of women delivering in Utrecht, the Netherlands, between 2006 and 2007.

Scoliosis in association with the 22q11.2 deletion syndrome: an observational study.

Objective: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans.

Metabolomic Profile of Amniotic Fluid and Wheezing in the First Year of Life-A Healthy Birth Cohort Study.

Objectives: To apply metabolomic analysis of amniotic fluid in a discovery cohort to see whether a specific biochemical-metabolic profile at birth is associated with the subsequent onset of wheezing over the first year of life.

Study Design: This prospective exploratory study was conducted in a healthy term-born Dutch cohort recruited at 2 hospitals in Utrecht (UMCU, Utrecht, and Diakonessenhuis, Utrecht), The Netherlands. A metabolomic approach based on mass spectrometry was applied to analyze 142 amniotic fluid samples collected at birth.

Rhinovirus wheezing illness in infancy is associated with medically attended third year wheezing in low risk infants: results of a healthy birth cohort study.

Rhinoviruses may be pathogens contributing to the development of childhood wheezing. However, their role in low risk infants without an asthmatic predisposition is unknown. Knowing which healthy, low risk children are at increased risk for childhood wheezing after rhinovirus wheezing illness (RV-WI) in infancy, might help in developing prevention and treatment strategies for childhood wheezing.

Porphyromonas gingivalis within Placental Villous Mesenchyme and Umbilical Cord Stroma Is Associated with Adverse Pregnancy Outcome.

Intrauterine presence of Porphyromonas gingivalis (Pg), a common oral pathobiont, is implicated in preterm birth. Our aim was to determine if the location of Pg within placental and/or umbilical cord sections was associated with a specific delivery diagnosis at preterm delivery (histologic chorioamnionitis, chorioamnionitis with funisitis, preeclampsia, and preeclampsia with HELLP-syndrome, small for gestational age). The prevalence and location of Pg within archived placental and umbilical cord specimens from preterm (25 to 32 weeks gestation) and term control cohorts were evaluated by immunofluorescent histology.

Placental characteristics in women with polycystic ovary syndrome.

Study Question: Are macroscopic and microscopic placental characteristics in a heterogeneous group of women diagnosed with polycystic ovary syndrome (PCOS) different from those of a low-risk general population?

Summary Answer: Women with PCOS have significantly different microscopic placental characteristics compared with control women, independently from pregnancy complications.

What Is Known Already: Non-obese women with PCOS who conceived spontaneously have a significantly reduced placental volume and weight, with more chronic villitis and intervillositis compared with healthy controls.

Study Design, Size, Duration: A subset of a large prospective cohort study of pregnant women with PCOS was used.

Soluble leukocyte-Associated Ig-like Receptor-1 in amniotic fluid is of fetal origin and positively associates with lung compliance.

The soluble form of the inhibitory immune receptor leukocyte-Associated Ig-like Receptor-1 (sLAIR-1) is present in plasma, urine and synovial fluid and correlates to inflammation. We and others previously showed inflammatory protein expression in normal amniotic fluid at term. We hypothesized that sLAIR-1 is present in amniotic fluid during term parturition and is related to fetal lung function development.

High concentrations of amniotic fluid proinflammatory cytokines in healthy neonates are associated with low risk of respiratory syncytial virus bronchiolitis.

Background: The burden of respiratory syncytial virus (RSV) bronchiolitis in individual children and their families, the medical system and society is considerable. Mechanisms underlying RSV bronchiolitis in healthy term infants are largely unknown. Sterile intraamniotic inflammation and chorioamnionitis have been associated with increased lung volume and compliance.

Bedside prediction rule for infections after pediatric cardiac surgery.

Purpose: Infections after pediatric cardiac surgery are a common complication, occurring in up to 30% of cases. The purpose of this study was to develop a bedside prediction rule to estimate the risk of a postoperative infection.

Methods: All consecutive pediatric cardiac surgery procedures between April 2006 and May 2009 were retrospectively analyzed.

IL10 family member genes IL19 and IL20 are associated with recurrent wheeze after respiratory syncytial virus bronchiolitis.

Mechanisms underlying the increased risk of recurrent wheeze after respiratory syncytial virus lower respiratory tract infection (RSV LRTI) are unclear. Specifically, information about genetic determinants of recurrent wheeze after RSV LRTI is limited. We performed a candidate gene association study to identify genetic determinants of recurrent wheeze after RSV LRTI.