Publications by authors named "Joan Doornebal"

Article Synopsis
  • Chronic kidney disease (CKD) is unexplained in 20% of patients, and this study investigates the use of massively parallel sequencing (MPS) as a diagnostic tool for these cases.
  • The study found that in 340 participants, a genetic diagnosis was identified in 17% of cases, leading to clinical consequences in 73% of those diagnosed.
  • Barriers to implementation of genetic testing included genetic illiteracy among nephrologists, difficulties in test selection, and lack of time, highlighting the need for better education in genetics.
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Background: Outpatient Clinics (OCs) are under pressure because of increasing patient volumes and provider shortages. At the same time, many patients with chronic diseases receive routine follow-up consultations that are not always necessary. These patients block access to care for patients that are in actual need for care.

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Hyponatremia is common, particularly among the elderly. Reset osmostat (RO) serves as an alternative diagnosis to the syndrome of inappropriate antidiuresis (SIAD). There is limited information available regarding the prevalence of RO in outpatient clinics and hospital wards.

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Unlabelled: A young male patient with rapidly progressive and life-threatening pulmonary haemorrhage due to anti-glomerular basement membrane (anti-GBM) antibody disease without renal involvement repeatedly tested negative for serum anti-GBM antibodies. Although rare, anti-GBM antibody disease should be considered in the differential diagnosis in patients with life-threatening pulmonary haemorrhage due to isolated diffuse alveolar haemorrhage. Enzyme-linked-immunosorbent assay (ELISA) testing for anti-GBM antibodies in anti-GBM antibody disease can give false-negative results.

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Lithium is the mainstay treatment for patients with bipolar disorder, but it generally causes nephrogenic diabetes insipidus (NDI), a disorder in which the renal urine concentrating ability has become vasopressin insensitive. Li-NDI is caused by lithium uptake by collecting duct principal cells and downregulation of aquaporin-2 (AQP2) water channels, which are essential for water uptake from tubular urine. Recently, we found that the prophylactic administration of acetazolamide to mice effectively attenuated Li-NDI.

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Background: Metastatic colorectal cancer (CRC) is predominantly a disease of the elderly, therefore the current standards should be evaluated in this population.

Material And Methods: We evaluated in different age groups the outcome in terms of median overall and progression-free survival, response rate, disease control rate, relative dose intensity (RDI), tolerability, and global quality of life (QoL) of first-line capecitabine monotherapy (CAP) versus capecitabine + irinotecan (CAPIRI) and capecitabine + oxaliplatin + bevacizumab (CAPOX + BEV) in the CAIRO and CAIRO2 study, respectively. Patients were categorized into three age groups: age > 75, 70-75 and < 70 years.

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Long-term use of proton pump inhibitors can lead to serious hypomagnesaemia. Intestinal magnesium absorption takes place by passive paracellular and active transcellular transport. It has been hypothesized that proton pump inhibitors impair the active transcellular magnesium transport.

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Off-label medication use is common practice, particularly in difficult to treat patients who have already tried commonly accepted medication unsuccessfully. Health authorities try to regulate this practice to protect the patient's safety and to prevent over consumption of new and more expensive drugs. Justified off-label drug use requires a thorough assessment.

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