Publications by authors named "Van Mol Christine"
The Impact of Intraventricular Hemorrhage and Periventricular Leukomalacia on Mortality and Neurodevelopmental Outcome in Very Preterm and Very Low Birthweight Infants: A Prospective Population-based Cohort Study.
J Pediatr
November 2023
Objective: To survey the incidence of intraventricular hemorrhage (IVH) and periventricular leukomalacia (PVL) by gestational age and to report the impact on mortality and neurodevelopmental outcome in very preterm/very low birthweight infants.
Study Design: This was a population-based cohort study of 1927 very preterm/very low birthweight infants born in 2014-2016 and admitted to Flemish neonatal intensive care units. Infants underwent standard follow-up assessment until 2 years corrected age with the Bayley Scales of Infant and Toddler Development and neurological assessments.
Article Synopsis
- The MCM complex is crucial for DNA replication and plays a role in cell cycle regulation, as well as in the formation of cilia; mutations in MCM genes can lead to growth and developmental disorders like Meier-Gorlin and Seckel syndromes.
- Two unrelated individuals with a specific mutation in the MCM6 gene showed overlapping health issues, including growth retardation and developmental delays, indicating a likely harmful effect on DNA replication.
- Additional cases of MCM6 mutations suggest a connection to various neurodevelopmental disorders, urging healthcare professionals to consider these variants when diagnosing patients with such conditions.
Background: In 2006, a consensus was made on management and follow up of children with congenital cytomegalovirus infection (cCMV) in Flanders, Belgium. Since 2007 systematic registration of those children was initiated. In this report, focus is on the perinatal data of our population.
View Article and Find Full Text PDFWhether or not cranial ultrasound (crUS) and cerebral magnetic resonance imaging (MRI) have both a place in the assessment of children with congenital cytomegalovirus infection (cCMV) remains a topic of discussion between research groups. Literature suggests that MRI is indicated only in children with abnormal crUS.In Flanders, Belgium, combined crUS and MRI was performed on 639 children with cCMV, referred for diagnostic assessment.
View Article and Find Full Text PDFNeurodevelopmental outcomes of very preterm and very-low-birthweight infants in a population-based clinical cohort with a definite perinatal treatment policy.
Eur J Paediatr Neurol
September 2020
Background: With constant changes in neonatal care practices, recent information is valuable for healthcare providers and for parental counselling. The aim of the study was to describe the neurodevelopmental outcome in a cohort of very preterm (VPT)/very-low-birthweight (VLBW) infants at 2 years corrected age (CA).
Material And Methods: This is a population-based cohort study of all infants born with a GA <31 weeks and/or BW < 1500 g between 2014 and 2016 admitted to the Flemish (Belgium) neonatal intensive care units.
Prospective multicenter comparison of urine culture with PCR on dried blood spots using 2 different extraction and PCR methods in neonates suspected for congenital cytomegalovirus infection.
Diagn Microbiol Infect Dis
July 2020
Article Synopsis
- The study assessed the accuracy of using dried blood spots (DBS) for detecting congenital cytomegalovirus (cCMV) by comparing it to traditional viral urine cultures in neonates.
- Two extraction methods and two PCR protocols were tested, highlighting that the effectiveness of DBS-PCR varied based on these factors.
- Among the 276 neonates tested, while 17.4% were positive in urine cultures, all urine-culture-positive neonates showing clinical signs of cCMV consistently tested positive with DBS methods.
Article Synopsis
- Recent findings suggest that specific mutations in genes related to ribosome function can lead to distinct human diseases.
- One such gene, SNORD118, encodes a small nucleolar RNA called U8, which is crucial for ribosome biogenesis.
- Mutations in SNORD118 lead to a rare condition known as leukoencephalopathy with calcifications and cysts (LCC), affecting individuals from early childhood to adulthood by disrupting U8 production and its role in maintaining healthy brain blood vessels.*
Objective: With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity.
Patients And Methods: A total of 15 patients with LCC were identified from our database of patients with intracranial calcification. The clinical and radiological features are described.
Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in childhood, growth hormone deficiency, and variable cognitive problems. Only 14 families with 6 different deletions have been reported.
View Article and Find Full Text PDFObjective: To assess health and neurodevelopmental outcome at 3 years of age in neonatal intensive care unit (NICU)-surviving children who were born at 26 or fewer weeks of gestation in a geographically defined region of Belgium from 1999 through 2000.
Methods: The study included a clinical examination and a standardized neurologic and developmental assessment. Disabilities were defined by international criteria.