A5039590981- Lymphoma Diagnosis and Treatment
- Acute Lymphoblastic Leukemia research
- Childhood Cancer Survivors' Quality of Life
- Mitochondrial Function and Pathology
- Genetic factors in colorectal cancer
- Metabolism and Genetic Disorders
- DNA Repair Mechanisms
- ATP Synthase and ATPases Research
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Simulation-Based Education in Healthcare
- Neuroblastoma Research and Treatments
- CNS Lymphoma Diagnosis and Treatment
- Palliative Care and End-of-Life Issues
- RNA modifications and cancer
- BRCA gene mutations in cancer
- Neonatal Respiratory Health Research
- Acute Myeloid Leukemia Research
- Cancer survivorship and care
- Clinical Reasoning and Diagnostic Skills
- Chromatin Remodeling and Cancer
- Carcinogens and Genotoxicity Assessment
- Patient Safety and Medication Errors
- Tumors and Oncological Cases
- Adolescent and Pediatric Healthcare
Princess Máxima Center
2018-2024
Erasmus MC - Sophia Children’s Hospital
2016-2023
Erasmus MC
2008-2018
Radboud University Nijmegen
2005-2015
Radboud University Medical Center
2000-2015
Amalia Kinderziekenhuis
2014
University Medical Center Groningen
2008
Boston Children's Hospital
1998-1999
Boston Children's Museum
1998
Lynch syndrome (LS) is an autosomal dominant disorder caused by a defect in one of the DNA mismatch repair genes: <i>MLH1</i><i>, MSH2, MSH6</i> and <i>PMS2</i>. In last 15 years, increasing number patients have been described with biallelic gene mutations causing referred to as 'constitutional repair-deficiency' (CMMR-D). The spectrum cancers observed this differs from that found LS, about half develop brain tumours, around digestive tract third haematological malignancies. Brain tumours...
Importance To improve diagnostics of cancer predisposition syndromes (CPSs) in children with cancer, it is essential to evaluate the effect CPS gene sequencing among all and compare genetic testing based on clinical selection. However, a reliable comparison difficult because recent reports phenotype-first approach large, unselected childhood cohorts are lacking. Objective describe national children’s center’s experience diagnosing CPSs before introducing routine next-generation sequencing....
Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as main biochemical causes. We report first missense mutation within nuclear encoded I subunit, NDUFS7, in 2 siblings neuropathologically proven I–deficient syndrome. Ann Neurol 1999;45:787–790
Human complex I is built up and regulated by genes encoded the mitochondrial DNA (mtDNA) as well nuclear (nDNA). In recent years, attention mainly focused on relation between deficiency mtDNA mutations. However, a high percentage of consanguinity an autosomal-recessive mode inheritance observed within our patient group absence common mutations make genetic cause likely. The NDUFS2 protein part many pro- eukaryotes. gene coding for this therefore important candidate mutational detection...
Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the cause is still unknown. We studied yield pathogenic mutations by applying whole-exome sequencing on selected cohort cancer.Experimental Design: To identify in known novel cancer-predisposing genes, we performed trio-based germline DNA 40 their parents. These were diagnosed had at least one following features: (1) intellectual disability and/or congenital anomalies, (2) multiple...
Despite poor survival, controversies remain in the treatment for refractory or relapsed pediatric non-Hodgkin lymphoma (r/r NHL). The current project aimed to collect international experience on re-induction of r/r NHL, hematopoietic stem cell transplantation (HSCT), risk factors associated with outcome, and suggest recommendations. Inclusion criteria were (i) disease, disease progression relapse any NHL subtype except anaplastic large lymphoma, (ii) age < 18 years at initial diagnosis,...
Situation awareness (SA) is an important human factor and necessary for effective teamwork patient safety. Human simulation (HPS) with video feedback allows a safe environment where health care professionals can develop both technical skills. It is, however, very difficult to observe measure SA directly. The Global Assessment Technique (SAGAT) was developed by Endsley during real-time simulation. Our objective among team members of acute pediatric scenarios on the medical ward its...
Abstract Post‐transplant lymphoproliferative disorder (PTLD) in the central nervous system (CNS) has a poor prognosis. New therapeutic approaches should be explored. We report our experience with intrathecal administration of rituximab 10‐year‐old kidney allograft recipient PTLD CNS. After standard treatment had failed, we tried to treat patient by administering directly into cerebral ventricle through an Omaya reservoir, addition conventional and systemic chemotherapy. This strategy...
Abstract Lynch syndrome (LS) predisposes to cancer in adulthood and is caused by heterozygous germline variants a mismatch repair (MMR) gene. Recent studies show an increased prevalence of LS among children with cancer, suggesting causal relationship. For LS‐spectrum (LSS) cancers, including high‐grade gliomas colorectal causality has been supported typical MMR‐related tumor characteristics, but for non‐LSS unclear. We characterized 20 malignant tumors 18 LS, 16 tumors. investigated second...