A5000574163- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- Genomic variations and chromosomal abnormalities
- Bacteriophages and microbial interactions
- Genetics and Neurodevelopmental Disorders
- Antimicrobial Resistance in Staphylococcus
- Acute Lymphoblastic Leukemia research
- Acute Myeloid Leukemia Research
- Animal Genetics and Reproduction
- Bacterial Identification and Susceptibility Testing
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Chromosomal and Genetic Variations
- Viral gastroenteritis research and epidemiology
- Immunodeficiency and Autoimmune Disorders
- Chronic Myeloid Leukemia Treatments
- Radiation Therapy and Dosimetry
- Global Public Health Policies and Epidemiology
- Histiocytic Disorders and Treatments
- Plant Virus Research Studies
- Ocular Disorders and Treatments
- DNA and Nucleic Acid Chemistry
- Escherichia coli research studies
- Prostate Cancer Treatment and Research
- Genetic and rare skin diseases.
National Institute of Public Health
2014-2019
University Medical Center Groningen
2014-2019
Maastricht University Medical Centre
2008-2016
European Centre for Disease Prevention and Control
2012
Celulose Beira Industrial (Portugal)
2009
Centro de Genética Clínica
2009
University Medical Center Utrecht
1999-2003
Medical Genetics Center
1999
Utrecht University
1999
Radboud University Nijmegen
1977-1991
ABSTRACT. Weemaes, C. M. R., Hustinx, T. W. J., Scheres, J. C, van Minister, P. Bakkeren, A. and Taalman, R. D. F. (Departments of Paediatrics Human Genetics, University Nijmegen, The Netherlands.) Acta Paediatr Scand, 70:557,.–A 10-year-old boy with microcephaly, stunted growth, mental retardation, cafe-au-lait spots immunodeficiency is described. An older brother the patient had same clinical symptoms a more severe immunodeficiency. Cytogenetic studies in proband revealed typical form...
The worldwide antibiotic crisis has led to a renewed interest in phage therapy. Since time immemorial phages control bacterial populations on Earth. Potent lytic against pathogens can be isolated from the environment or selected collection matter of days. In addition, have capacity rapidly overcome resistances, which will inevitably emerge. To maximally exploit these advantage over conventional drugs such as antibiotics, it is important that sustainable products are not submitted long...
Zdrowie Publiczne i Zarządzanie » 2019 Tom 17, Numer 1 The Ten Threats to Global Health in 2018 and 2019. A welcome informative communication of WHO everybody
We report on five independent families with a chromosome instability disorder that earlier had been called the Nijmegen breakage syndrome (NBS). These families, two from Netherlands and three Czechoslovakia, total of eight patients, whom are still alive. The main clinical manifestations were microcephaly, short stature, "bird-like" face, immunological defects involving both humoral cellular system. In four living patients it has possible to study chromosomes cultured lymphocytes. basic...
In 2011, a novel strain of O104:H4 Escherichia coli caused serious outbreak foodborne hemolytic uremic syndrome and bloody diarrhea in Germany. Antibiotics were questionable use 54 deaths occurred. Candidate therapeutic bacteriophages that efficiently lyse the E. could be selected rather easily from phage bank or isolated environment. It is argued therapy should more considered as potential armament against growing threat (resistant) bacterial infections.
The excessive and improper use of antibiotics has led to an increasing incidence bacterial resistance. In Europe the yearly number infections caused by multidrug resistant bacteria is more than 400.000, each year resulting in 25.000 attributable deaths. Few new are pipeline pharmaceutical industry. Early 20th century, bacteriophages were described as entities that can control populations. Although bacteriophage therapy was developed practiced former Soviet republics, clinical setting...
Malignant histiocytosis (MH) was diagnosed on the cytologic and cytochemical features of malignant cells present in bone marrow smears from an infant a child. The diagnosis MH confirmed by light electron microscopic studies skin biopsy specimens, liver respectively. Both patients showed deterioration while receiving prednisone monotherapy, but they responded well to combination vincristine cyclophosphamide. has remained disease-free for 52+ months now, child died relapse 11 after diagnosis....
Abstract We report on a microcephalic, growth‐retarded newborn girl without major anomalies who has chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, 14q32 suggested the diagnosis ataxia telangiectasia (AT) or related disorder. Supportive evidence was radioresistant DNA synthesis fibroblasts radiation hypersensitivity short‐term lymphocyte cultures. Follow‐up for nearly 4 years showed largely normal development, no signs telangiectasia,...
Because the prevalence of methicillin-resistant Staphylococcus aureus (MRSA) differs among 3 countries forming Euregio Meuse-Rhin (EMR) region (Belgium, Germany, and Netherlands), cross-border healthcare requires information about spread MRSA in EMR. We investigated emergence, dissemination, diversity clones EMR by using several typing methods. associated with clonal complexes 5, 8, 30, 45 was disseminated throughout Dutch isolates, mainly sequence types (ST) ST5-MRSA-II, ST5-MRSA-IV,...
The Euregio Meuse-Rhine (EMR) is formed by the border regions of Belgium, Germany, and Netherlands. Cross-border health care requires infection control measures, in particular since prevalence methicillin-resistant Staphylococcus aureus (MRSA) differs among three countries. To investigate dissemination MRSA EMR, 152 isolates were characterized pulsed-field gel electrophoresis (PFGE), SCCmec typing, multilocus sequence typing. PFGE revealed major clonal groups A, G, L, Q, suggesting EMR....
The clinical and cytogenetic data are presented of a child with multiple congenital malformations, including cystic kidneys. A trisomy for at least the larger part short arm chromosome No. 10 in association translocation between chromosomes Nos. 14 was found peripheral blood lymphocytes skin fibroblasts. Both mother younger sib were balanced carriers translocation.
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S ummary . The case history of an adult patient with acute myelomonoblastic leukaemia is presented. developed 4 yr after the first irradiation for a Wilms' tumour. Approximately 35% bone marrow cells had 47 chromosomes and were trisomic chromosome 9.
Sperm analysis was performed in a male with oligoasthenoteratozoospermia (OAT) and reciprocal t(Y;16) (q11. 21;q24), using four-color FISH. Intracytoplasmic sperm injection (ICSI) treatment this patient had resulted the birth of one chromosomally balanced two normal children. To assess risk having unbalanced conception after ICSI, morphologically spermatozoa were studied set probes allowing detection all segregation variants. There 51% or cells. The fraction products resulting from alternate...
Abstract The SeqNet.org initiative is a dynamic Europe-wide network of laboratories for DNA sequence-based typing