Publications by authors named "Els Grijseels"

Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate intellectual disability, psychiatric and behavioral problems, congenital heart malformations, and craniofacial abnormalities. A subset of individuals is clinically unaffected.

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Article Synopsis
  • This paper analyzes a complex case of Congenital Diaphragmatic Hernia (CDH) identified during pregnancy, associated with a rare genetic condition involving a mosaic unbalanced translocation between chromosomes 5 and 12.
  • High-resolution whole genome SNP array technology revealed a 20% low-level mosaicism in the cells, emphasizing its usefulness in genetic identification and analysis.
  • The study highlights the connection between low-level mosaicism and severe birth defects like CDH, suggesting that genetic counseling needs to improve in understanding the impacts of such mosaic aberrations on fetal health.
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Objective: To assess the balance between costs and upper gastrointestinal (GI) side effects of treatment with celecoxib, nonsteroidal antiinflammatory drugs (NSAIDs) alone, NSAID plus misoprostol, NSAID plus histamine-2 receptor antagonist (H(2)RA), NSAID plus proton pump inhibitor (PPI), and Arthrotec in The Netherlands.

Methods: A model was used to convene data from various sources on the probability of GI side effects and resource use. The probabilities of GI side effects for celecoxib and NSAIDs alone were derived from trial data.

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Rationale, Aims And Objective: Evidence on the cost-effectiveness of health interventions in the development of practice guidelines has become of interest in many countries. Challenges are the quality of economic data, the use of cost-effectiveness criteria, and the consensus process. Our paper aims to assess the quality and use of economic information in the formulation of consensus guidelines in a Dutch pilot programme and to recommend improvements.

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Currently, up to 50% of the operations in early-stage non-small cell lung cancer (NSCLC) are futile owing to the presence of locally advanced tumour or distant metastases. More accurate pre-operative staging is required in order to reduce the number of futile operations. The cost-effectiveness of fluorine-18 fluorodeoxyglucose positron emission tomography ((18)FDG-PET) added to the conventional diagnostic work-up was studied in the PLUS study.

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Background: The presence of (distant) metastases affects the therapy (operation) and prognosis of patients with non-small-cell lung cancer (NSCLC). Fifty percent of the operations are futile due to the presence of a locally advanced tumor or distant metastases. Therefore, more accurate preoperative staging is required with respect to the outcomes (reduction of futile operations) and costs.

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