The possible etiologic roles of infection and bed rest are discussed in connection with a case of maternal homozygous Leiden mutation leading to prematurity, maternal deep-vein thrombosis and neonatal intracranial hemorrhage in a heterozygous premature baby. Maternal bacterial infection and bed rest may trigger deep-vein femoral thrombosis in women with a homozygous Leiden mutation on tocolytic therapy for the treatment of premature labor. The neonate carrying at least one mutated allele of factor V Leiden might be at risk for the development of intracranial hemorrhage.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1159/000076711 | DOI Listing |
Blood Cancer Discov
January 2025
Princess Máxima Center, Utrecht, Netherlands.
In pediatric hematopoietic cell transplantation (HCT) recipients, transplanted donor cells may need to function far beyond normal human lifespan. Here, we investigated the risk of clonal hematopoiesis (CH) in 144 pediatric long-term HCT survivors and 258 non-transplanted controls. CH was detected in 16% of HCT recipients and 8% of controls, at variant allele frequencies (VAFs) of 0.
View Article and Find Full Text PDFAm J Pathol
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:
The tongue facilitates vital activities such as swallowing. Swallowing difficulties (dysphagia) are common in the elderly and in many adult-onset neuromuscular diseases. In oculopharyngeal muscular dystrophy (OPMD), dysphagia is often the first symptom.
View Article and Find Full Text PDFMol Diagn Ther
January 2025
Istituto Europeo di Oncologia, IRCCS, Via Adamello 16, 20139, Milan, Italy.
Background: Predicting response to targeted cancer therapies increasingly relies on both simple and complex genetic biomarkers. Comprehensive genomic profiling using high-throughput assays must be evaluated for reproducibility and accuracy compared with existing methods.
Methods: This study is a multicenter evaluation of the Oncomine™ Comprehensive Assay Plus (OCA Plus) Pan-Cancer Research Panel for comprehensive genomic profiling of solid tumors.
Int J Biol Sci
January 2025
Institute of Biology Leiden, Animal Science and Health, Leiden University, Einsteinweg 55, 2333 CC Leiden, The Netherlands.
The TIRAP protein is an adaptor protein in TLR signaling which links TLR2 and TLR4 to the adaptor protein Myd88. The transcriptomic profiles of zebrafish larvae from a , and mutant and the corresponding wild type controls under unchallenged developmental conditions revealed a specific involvement of in calcium homeostasis and myosin regulation. Metabolomic profiling showed that the mutation results in lower glucose levels, whereas a mutation leads to higher glucose levels.
View Article and Find Full Text PDFNeurooncol Pract
February 2025
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
According to the 2021 World Health Organization classification of CNS tumors, gliomas harboring a mutation in isocitrate dehydrogenase (mIDH) are considered a distinct disease entity, typically presenting in adult patients before the age of 50 years. Given their multiyear survival, patients with mIDH glioma are affected by tumor and treatment-related symptoms that can have a large impact on the daily life of both patients and their caregivers for an extended period of time. Selective oral inhibitors of mIDH enzymes have recently joined existing anticancer treatments, including resection, radiotherapy, and chemotherapy, as an additional targeted treatment modality.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!