Objectives: In the current prospective study our aim was to analyse the distribution of the factor V Leiden (G1691A) mutation in preterm and full-term neonates with grade I intraventricular haemorrhage and in control neonates.
Study Method: A group of 125 individually selected neonates with grade I intraventricular haemorrhage and 128 controls were investigated.
Results: The allele frequency was 7.2% in the total population of affected infants while it was 3.9% in the controls (p < 0.05); the latter corresponds to an average European allele frequency in healthy populations. When the infants were grouped as premature (<2,500 g and < or =36 weeks of gestational age) and appropriate for gestational age full-term infants the statistical analysis revealed an increased prevalence of the mutation in the premature group (10% allele frequency vs. 4.8% in the controls, p < 0.05), and a normal prevalence in the mature group (4.6 vs. 3.1%, respectively); therefore, the overall increase was due to the increase of incidence rate in preterm neonates.
Conclusions: These data confirm our previous results and suggest that as the preterm and term infants differ from each other in haemorrhage susceptibility in many clinical particulars, carrying of the mutation has probably also a different impact in premature and in full-term infants with respect to the intraventricular haemorrhage.
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http://dx.doi.org/10.1159/000081244 | DOI Listing |
Brain Spine
December 2024
Department of Neurosurgery, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
Introduction: Thoracolumbar kyphosis (TLK) is a frequently reported spinal deformity in achondroplasia, which in combination with the characteristic narrow spinal canal in achondroplasia predisposes for symptomatic spinal stenosis. There is however no consensus on the optimal treatment, due to limited data on diagnostic criteria, the natural development and the prevalence of TLK.
Research Question: This study aims to assess the prevalence, natural development, and diagnostic criteria for pathological TLK in individuals with achondroplasia.
Expert Rev Hematol
January 2025
Department of Internal Medicine, Division of Thrombosis and Hemostasis, Einthoven Laboratory for Vascular and Regenerative Medicine, Leiden University Medical Center, Leiden, the Netherlands.
Introduction: The clinical management of the inherited bleeding disorder von Willebrand disease (VWD) focuses on normalizing circulating levels of von Willebrand factor (VWF) and factor VIII (FVIII) to prevent or control bleeding events. The heterogeneous nature of VWD, however, complicates effective disease management and development of universal treatment guidelines.
Areas Covered: The current treatment modalities of VWD and their limitations are described and why this prompts the development of new treatment approaches.
Clin Med (Lond)
January 2025
Obstetrics and Gynaecology Department, The James Cook University Hospital, South Tees NHS Foundation Trust, Middlesbrough, United Kingdom.
Adrenal haemorrhage in pregnancy is rare but can lead to significant maternal and foetal morbidity if unrecognised. We present the case of a 25-year-old woman in her second pregnancy, who was admitted at 34+4 weeks of gestation with severe abdominal pain. Despite initial unremarkable assessments, further imaging revealed a left adrenal haemorrhage, with evidence of prior right adrenal infarction, resulting in primary adrenal insufficiency.
View Article and Find Full Text PDFSci Total Environ
January 2025
Leiden University, Institute of Environmental Science - Industrial Ecology, Van Steenisgebouw, Einsteinweg 2, 2333 CC Leiden, the Netherlands. Electronic address:
In this study, we compared the Sol-Char sanitation system with an Anaerobic Digestion (AD) system using Life Cycle Assessment (LCA) to evaluate their environmental impacts. Since both systems offer opportunities for human waste treatment and resource recovery, understanding their performance is crucial. This comparison aims to determine their environmental impacts while considering diverse factors, such as energy production and nutrient recovery.
View Article and Find Full Text PDFCell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
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