A5045187174- Erythrocyte Function and Pathophysiology
- Blood properties and coagulation
- Hemoglobinopathies and Related Disorders
- Blood groups and transfusion
- Extracellular vesicles in disease
- Lipid Membrane Structure and Behavior
- Neonatal Health and Biochemistry
- Ion channel regulation and function
- Metabolism and Genetic Disorders
- Biotin and Related Studies
- Pituitary Gland Disorders and Treatments
- Cell Adhesion Molecules Research
- Neurological diseases and metabolism
- Connexins and lens biology
- Vitamin K Research Studies
- MicroRNA in disease regulation
- Growth Hormone and Insulin-like Growth Factors
Utrecht University
2018-2021
University Medical Center Utrecht
2016-2021
St Thomas' Hospital
2018
Article15 June 2018Open Access Source DataTransparent process Cancer cells copy migratory behavior and exchange signaling networks via extracellular vesicles Sander C Steenbeek Molecular Pathology, Oncode Institute, The Netherlands Amsterdam, Hubrecht Institute-KNAW & University Medical Centre Utrecht, Search for more papers by this author Thang V Pham OncoProteomics Laboratory, Department of Oncology, Center VU Center, Joep de Ligt Division Biomedical Genetics, Medicine, Anoek Zomer Jaco...
Transportation of blood samples is unavoidable for assessment specific parameters in patients with rare anemias, doping testing or research purposes. Despite the awareness that shipment may substantially alter multiple parameters, no study extend has been performed to assess these changes and optimize conditions reduce transportation-related artifacts. Here we investigate healthy donors over 72 hours simulated conditions. Three different anticoagulants (K3EDTA, Sodium Heparin citrate-based...
Hereditary spherocytosis (HS) is a phenotypically and genetically heterogeneous disease. With the increased use of Next Generation Sequencing (NGS) techniques in diagnosis red blood cell disorders, list unique pathogenic mutations underlying HS growing rapidly. In this study, we aimed to explore genotype-phenotype correlation 95 patients genotyped by targeted NGS as part routine diagnostics (UMC Utrecht, The Netherlands). 85/95 (89%) mutation was identified, including 56 novel mutations.
Abstract Extracellular vesicles (EVs) are emerging as important mediators of cell–cell communication well potential disease biomarkers and drug delivery vehicles. However, the mechanical properties these largely unknown, processes leading to microvesicle‐shedding from plasma membrane not understood. Here an in depth atomic force microscopy spectroscopy study natural EVs is presented. It found that several different origin have a composition lipids proteins, but similar properties. generated...
For many hereditary disorders, although the underlying genetic mutation may be known, molecular mechanism leading to hemolytic anemia is still unclear and needs further investigation. Previous studies revealed an increased intracellular Ca2+ in red blood cells (RBCs) from patients with sickle cell disease, thalassemia, or Gardos channelopathy. Therefore we analyzed RBCs' content 35 different types of (16 spherocytosis, 11 xerocytosis, 5 enzymopathies, 3 unknown cause). Intracellular RBCs was...
Hereditary spherocytosis (HS) originates from defective anchoring of the cytoskeletal network to transmembrane protein complexes red blood cell (RBC). Red cells in HS are characterized by membrane instability and reduced deformability there is marked heterogeneity disease severity among patients. To unravel this variability severity, we analyzed samples 21 patients with defects ankyrin, band 3, α-spectrin or β-spectrin using indices, eosin-5-maleimide binding, microscopy, osmotic fragility...
Abstract Introduction Evaluation of red blood cell ( RBC ) morphology is an important first step in the differential diagnosis hereditary hemolytic anemia. It is, however, labor intensive, expensive, and prone to subjectivity. To improve standardize analysis as a screening tool anemia, we studied its automated by digital microscopy DM ). Methods Blood from 90 patients with anemia 32 normal control subjects was analyzed CellaVision 96 Digital Microscope. Results All abnormalities could be...
Congenital haemolytic anaemias are inherited disorders caused by red blood cell membrane and cytoskeletal protein defects, deviant haemoglobin synthesis metabolic enzyme deficiencies. In many cases, although the causing mutation might be known, pathophysiology connection between particular symptoms of disease is not completely understood. Thus effective treatment lagging behind. As in cases abnormal cation content leaks go along with disease. By direct electrophysiological measurements...
Hereditary spherocytosis (HS) is the most common form of hereditary chronic hemolytic anemia. It caused by mutations in red blood cell (RBC) membrane and cytoskeletal proteins, which compromise integrity, leading to vesiculation. Eventually, this leads entrapment poorly deformable spherocytes spleen. Splenectomy a procedure often performed HS. The clinical benefit results from removing primary site destruction, thereby improving RBC survival. But whether changes properties contribute...
Background: Hereditary spherocytosis (HS) presents as a highly heterogeneous disease, both phenotypically and genetically. Disease severity is directly related to the extent of loss surface area red cell. The diagnosis multifaceted includes functional testing cell deformability. Until recently, establishing or confirming at DNA level was only rarely done. With increased use Next‐Generation‐Sequencing (NGS) techniques in blood disorders, list unique pathogenic mutations underlying HS growing...
Background: Vitamin K deficiency of the newborn is preventable by routine administration vitamin K1 post-partum. Although this practice essentially successful, little known about efficacy dosage, preferred route and variations required for safe treatment term preterm neonates. Methods: We describe a method which has been successfully employed determination 5C- 7C-metabolites in neonatal faecal matter HPLC with redox-mode electrochemical detection. Results: Peaks attributable to were detected...