214 results on '"Kamphuis, L"'
Search Results
2. 239 Organoid-guided synergistic treatment of minimal function CFTR mutations with CFTR modulators, roflumilast and simvastatin: A personalized approach
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Spelier, S., primary, van der Ent, K., additional, Beekman, J., additional, and Kamphuis, L., additional
- Published
- 2023
- Full Text
- View/download PDF
3. 731 Inflammatory biomarkers to monitor cystic fibrosis lung disease in the era of CFTR modulators
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Mager, D., primary, Gorissen, R., additional, Manai, B., additional, Estevão, S., additional, Demir, Y., additional, van Horssen, E., additional, Haasnoot, A., additional, Aerts, J., additional, Kamphuis, L., additional, van der Veer, T., additional, Bakker, M., additional, Unger, W., additional, and Janssens, H, additional
- Published
- 2023
- Full Text
- View/download PDF
4. P175 Changes in breathprint after start of tezacaftor/ivacaftor therapy: an eNose pilot study
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Iradukunda, A.P., primary, van der Veer, T., additional, Wijbenga, N., additional, Mager, D., additional, Kamphuis, L., additional, Janssens, H.M., additional, and Bakker, M., additional
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- 2023
- Full Text
- View/download PDF
5. WS14.06 Single cell RNA sequencing of lung biopsies reveals altered immune-structural cell crosstalk in cystic fibrosis
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Krabbendam, L., primary, Berg, M., additional, Van Nimwegen, M., additional, Van der Veer, T., additional, Banchero, M., additional, Collin, A., additional, Van den Berge, M., additional, Aerts, J., additional, Kamphuis, L., additional, Hendriks, R., additional, Nawijn, M., additional, and Stadhouders, R., additional
- Published
- 2023
- Full Text
- View/download PDF
6. Clinical and genetic characteristics of Dent's disease type 1 in Europe.
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Burballa, C., Cantero-Recasens, G., Prikhodina, L., Lugani, F., Schlingmann, K., Ananin, P.V., Besouw, M., Bockenhauer, D., Madariaga, L., Bertholet-Thomas, A., Taroni, F., Parolin, M., Conlon, P., Emma, F., Prete, D. Del, Chauveau, D., Koster-Kamphuis, L., Fila, M., Pasini, A., Castro, I., Colussi, G., Gil, M., Mohidin, B., Wlodkowski, T., Schaefer, F., Ariceta, G., Burballa, C., Cantero-Recasens, G., Prikhodina, L., Lugani, F., Schlingmann, K., Ananin, P.V., Besouw, M., Bockenhauer, D., Madariaga, L., Bertholet-Thomas, A., Taroni, F., Parolin, M., Conlon, P., Emma, F., Prete, D. Del, Chauveau, D., Koster-Kamphuis, L., Fila, M., Pasini, A., Castro, I., Colussi, G., Gil, M., Mohidin, B., Wlodkowski, T., Schaefer, F., and Ariceta, G.
- Abstract
Item does not contain fulltext, BACKGROUND: Dent's disease type 1 (DD1) is a rare X-linked nephropathy caused by CLCN5 mutations, characterized by proximal tubule dysfunction, including low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis-nephrocalcinosis, progressive chronic kidney disease (CKD) and kidney failure (KF). Current management is symptomatic and does not prevent disease progression. Here we describe the contemporary DD1 picture across Europe to highlight its unmet needs. METHODS: A physician-based anonymous international e-survey supported by several European nephrology networks/societies was conducted. Questions focused on DD1 clinical features, diagnostic procedure and mutation spectra. RESULTS: A total of 207 DD1 male patients were reported; clinical data were available for 163 with confirmed CLCN5 mutations. Proteinuria was the most common manifestation (49.1%). During follow-up, all patients showed LMWP, 66.4% nephrocalcinosis, 44.4% hypercalciuria and 26.4% nephrolithiasis. After 5.5 years, ≈50% of patients presented with renal dysfunction, 20.7% developed CKD stage ≥3 and 11.1% developed KF. At the last visit, hypercalciuria was more frequent in paediatric patients than in adults (73.4% versus 19.0%). Conversely, nephrolithiasis, nephrocalcinosis and renal dysfunction were more prominent in adults. Furthermore, CKD progressed with age. Despite no clear phenotype/genotype correlation, decreased glomerular filtration rate was more frequent in subjects with CLCN5 mutations affecting the pore or CBS domains compared with those with early-stop mutations. CONCLUSIONS: Results from this large DD1 cohort confirm previous findings and provide new insights regarding age and genotype impact on CKD progression. Our data strongly support that DD1 should be considered in male patients with CKD, nephrocalcinosis/hypercalciuria and non-nephrotic proteinuria and provide additional support for new research opportunities.
- Published
- 2023
7. Successful kidney-alone transplantation in a patient with PH1 on combination RNA-interference therapy.
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Metry, E.L., Deesker, L.J., Garrelfs, S.F., Oosterveld, M.J.S., Beekman, K.M., Cornelissen, M., Koster-Kamphuis, L., Groothoff, J.W., Metry, E.L., Deesker, L.J., Garrelfs, S.F., Oosterveld, M.J.S., Beekman, K.M., Cornelissen, M., Koster-Kamphuis, L., and Groothoff, J.W.
- Abstract
01 juli 2023, Item does not contain fulltext
- Published
- 2023
8. The strengths and complexities of European registries concerning paediatric kidney transplantation health care.
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Oomen, L., Wall, L.L. de, Krupka, K., Tönshoff, B., Wlodkowski, T., Zanden, L.F.M. van der, Bonthuis, M., Duus Weinreich, I.D., Koster-Kamphuis, L., Feitz, W.F.J., Bootsma-Robroeks, C.M.H.H.T., Oomen, L., Wall, L.L. de, Krupka, K., Tönshoff, B., Wlodkowski, T., Zanden, L.F.M. van der, Bonthuis, M., Duus Weinreich, I.D., Koster-Kamphuis, L., Feitz, W.F.J., and Bootsma-Robroeks, C.M.H.H.T.
- Abstract
Item does not contain fulltext, INTRODUCTION: Patient data are increasingly available in (multi)national registries, especially for rare diseases. This study aims to provide an overview of current European registries of paediatric kidney transplantation (PKT) care, their coverage, and their focus. Based on these data, we assess whether the current status is optimal for achieving our common goal: the optimalisation of health care. METHODS: A list of all PKT centres within the European Union (EU) as well as active PKT registries was compiled using existing literature and the European Platform on Rare Disease Registration. Registry staff members were contacted to obtain information about the parameters collected and the registry design. These data were compared between registries. RESULTS: In total, 109 PKT centres performing PKT surgery were identified in the 27 EU Member States. Currently, five European PKT registries are actively collecting data. In 39% of these centres, no data were registered within any of these five existing international registries. A large variety was observed in the number of patients, centres, and countries involved in the registries. Furthermore, variability existed regarding the inclusion criteria, definitions used, and parameters collected. Collection of perioperative urologic data are currently underrepresented in the registries. DISCUSSION: Currently, multiple registries are collecting valuable information in the field of PKT, covering the majority of PKT centres in Europe. Due to a large variety in the parameters collected as well as different focuses, data collection is currently fragmented and suboptimal; therefore, the current existing data are incomplete. In addition, a considerable proportion of the transplantation centres do not enter data in any international registry. Combining available information and harmonising future data collection could empower the aim of these registries-namely increasing insights into the strengths and potential of current care and th
- Published
- 2023
9. Treatment and long-term outcome in primary nephrogenic diabetes insipidus
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Lopez-Garcia, Sergio C., Downie, Mallory L., Kim, Ji Soo, Boyer, O., Walsh, S.B., Nijenhuis, T., Koster-Kamphuis, L., Consortium, European NDI, Bockenhauer, Detlef, Lopez-Garcia, Sergio C., Downie, Mallory L., Kim, Ji Soo, Boyer, O., Walsh, S.B., Nijenhuis, T., Koster-Kamphuis, L., Consortium, European NDI, and Bockenhauer, Detlef
- Abstract
Item does not contain fulltext
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- 2023
10. Langetermijngevolgen van slokdarmatresie: Slokdarm- en longafwijkingen op volwassen leeftijd
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Ten Kate, C A, Vlot, J, Kamphuis, L S, IJsselstijn, H, Spaander, M C W, Pediatric Surgery, Pulmonary Medicine, and Gastroenterology & Hepatology
- Abstract
Esophageal atresia is a rare congenital anomaly. Due to increased survival rates, the population of adults born with this malformation is growing. These patients turn out to have an increased risk to develop Barrett's esophagus, esophageal carcinoma or lung abnormalities like bronchiectasis. This is illustrated by three cases: a 42-year-old man with an irresectable esophageal squamous cell carcinoma; a 23-year-old man with a Barrett's esophagus without any reflux complaints; and a 51-year-old women with a reflux esophagitis and extensive bronchiectasis due to a combination of gastroesophageal reflux with chronic aspiration and a reduced sputum clearance because of a history of tracheomalacia. It is important for healthcare providers to be aware of these risks and the possible absence of symptoms, in order to detect abnormalities at an early stage and improve quality of life of these patients.
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- 2021
11. Patients' and Families' Adaptations During Recovery After Acute Respiratory Distress Syndrome
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Hauschildt, K., primary, Seigworth, C., additional, Kamphuis, L., additional, Harrod, M., additional, Moss, M., additional, Hough, C.T.L., additional, and Iwashyna, T.J., additional
- Published
- 2020
- Full Text
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12. Early transient leg swelling at the side of renal transplant in two children
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Koster-Kamphuis, L., van Die, C. E., van der Vliet, J. A., and Monnens, L.
- Published
- 2006
13. Preparing for a kidney transplant: Medical nephrectomy in children with nephrotic syndrome
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Vos, Eefke, Koster-Kamphuis, L., Kar, N.C.A.J. van de, Bootsma-Robroeks, C.M.H.H.T., Cornelissen, E.A.M., Schreuder, M.F., Vos, Eefke, Koster-Kamphuis, L., Kar, N.C.A.J. van de, Bootsma-Robroeks, C.M.H.H.T., Cornelissen, E.A.M., and Schreuder, M.F.
- Abstract
Contains fulltext : 220830.pdf (Publisher’s version ) (Open Access), Nephrotic syndrome is characterized by proteinuria, hypoalbuminemia, and general edema. These symptoms may persist in children who reach ESRD, which is unfavorable for the patient's allograft outcome. In addition, this may hamper early diagnosis of a relapse after transplantation. Surgical bilateral nephrectomy is often considered for that reason, but medical nephrectomy may be a less invasive alternative. In this retrospective single-center case series, we identified all children on dialysis with ESRD due to nephrotic syndrome in which a medical nephrectomy was attempted before kidney transplantation between 2013 and 2018. Outcome was measured by urine output and serum albumin levels. Eight patients with either congenital nephrotic syndrome or focal segmental glomerular sclerosis were included in the study. All patients received an ACE inhibitor as drug of first choice for medical nephrectomy, to which 5 patients responded with oligoanuria and a significant rise in serum albumin, and 3 patients responded insufficiently. In 1 of these 3 patients, diclofenac was added to the ACE inhibitor, with good result. In the other 2 patients, indomethacin was initiated without success, and surgical bilateral nephrectomy was performed. Overall, 6/8 patients had a successful medical nephrectomy and did not need surgical nephrectomy. No recurrence of nephrotic syndrome was found after kidney transplantation in all but one. Medical nephrectomy with ACE inhibitors and/or non-steroidal anti-inflammatory drugs is a safe and non-invasive therapy to minimize proteinuria in children with ESRD due to nephrotic syndrome before kidney transplantation. We suggest that this strategy should be considered as therapy before proceeding with surgical nephrectomy.
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- 2020
14. Urine biomarkers for gentamicin-induced acute kidney injury in the neonatal ICU
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Jansen, D, Heemskerk, S, Koster-Kamphuis, L, Bouw, TP, Heijst, AF, and Pickkers, P
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- 2011
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15. Treatment and long-term outcome in primary distal renal tubular acidosis
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Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, and Blanchard A
- Subjects
Acidosis, Renal Tubular/complications/genetics/*therapy ,Adolescent ,Adult ,Aged ,Bicarbonates/blood ,Calcium/urine ,Child ,Child, Preschool ,Cohort Studies ,DNA Mutational Analysis ,Deafness/complications/genetics/therapy ,Female ,Genetic Association Studies ,Glomerular Filtration Rate ,Hearing Loss, Sensorineural/complications/genetics/*therapy ,Humans ,Infant ,Infant, Newborn ,Male ,Middle Aged ,Mutation ,Nephrocalcinosis/complications/genetics/therapy ,Rare Diseases/complications ,Vacuolar P - Abstract
BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (±1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. CONCLUSION: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.
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- 2019
16. Pediatr Nephrol
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BOEHM, M., BONTHUIS, M., NOORDZIJ, M., HARAMBAT, Jerome, GROOTHOFF, J. W., MELGAR, A. A., BUTUROVIC, J., DUSUNSEL, R., FILA, M., JANDER, A., KOSTER-KAMPHUIS, L., NOVLJAN, G., ORTEGA, P. J., PAGLIALONGA, F., SARAVO, M. T., STEFANIDIS, C. J., AUFRICHT, C., JAGER, K. J., and SCHAEFER, F.
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- 2019
17. Association between timing of dialysis initiation and clinical outcomes in the paediatric population: an ESPN/ERA-EDTA registry study
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Preka, E., Bonthuis, M., Harambat, J., Jager, K.J., Groothoff, J.W., Baiko, S., Bayazit, A.K., Boehm, M., Cvetkovic, M., Edvardsson, V.O., Fomina, S., Heaf, J.G., Holtta, T., Kis, E., Kolvek, G., Koster-Kamphuis, L., Molchanova, E.A., Munoz, M., Neto, G., Novljan, G., Printza, N., Sahpazova, E., Sartz, L., Sinha, M.D., Vidal, E., Vondrak, K., Vrillon, I., Weber, L.T., Weitz, M., Zagozdzon, I., Stefanidis, C.J., Bakkaloglu, S.A., Preka, E., Bonthuis, M., Harambat, J., Jager, K.J., Groothoff, J.W., Baiko, S., Bayazit, A.K., Boehm, M., Cvetkovic, M., Edvardsson, V.O., Fomina, S., Heaf, J.G., Holtta, T., Kis, E., Kolvek, G., Koster-Kamphuis, L., Molchanova, E.A., Munoz, M., Neto, G., Novljan, G., Printza, N., Sahpazova, E., Sartz, L., Sinha, M.D., Vidal, E., Vondrak, K., Vrillon, I., Weber, L.T., Weitz, M., Zagozdzon, I., Stefanidis, C.J., and Bakkaloglu, S.A.
- Abstract
Item does not contain fulltext, BACKGROUND: There is no consensus regarding the timing of dialysis therapy initiation for end-stage kidney disease (ESKD) in children. As studies investigating the association between timing of dialysis initiation and clinical outcomes are lacking, we aimed to study this relationship in a cohort of European children who started maintenance dialysis treatment. METHODS: We used data on 2963 children from 21 different countries included in the European Society of Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association Registry who started renal replacement therapy before 18 years of age between 2000 and 2014. We compared two groups according to the estimated glomerular filtration rate (eGFR) at start: eGFR >/=8 mL/min/1.73 m2 (early starters) and eGFR <8 mL/min/1.73 m2 (late starters). The primary outcomes were patient survival and access to transplantation. Secondary outcomes were growth and cardiovascular risk factors. Sensitivity analyses were performed to account for selection- and lead time-bias. RESULTS: The median eGFR at the start of dialysis was 6.1 for late versus 10.5 mL/min/1.73 m2 for early starters. Early starters were older [median: 11.0, interquartile range (IQR): 5.7-14.5 versus 9.4, IQR: 2.6-14.1 years]. There were no differences observed between the two groups in mortality and access to transplantation at 1, 2 and 5 years of follow-up. One-year evolution of height standard deviation scores was similar among the groups, whereas hypertension was more prevalent among late initiators. Sensitivity analyses resulted in similar findings. CONCLUSIONS: We found no evidence for a clinically relevant benefit of early start of dialysis in children with ESKD. Presence of cardiovascular risk factors, such as high blood pressure, should be taken into account when deciding to initiate or postpone dialysis in children with ESKD, as this affects the survival.
- Published
- 2019
18. Hemodialysis vascular access and subsequent transplantation: a report from the ESPN/ERA-EDTA Registry
- Author
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Boehm, Michael, Bonthuis, Marjolein, Noordzij, Marlies, Harambat, Jerome, Groothoff, Jaap W., Alonso Melgar, Angel, Koster-Kamphuis, L., Jager, Kitty J., Schaefer, Franz, Boehm, Michael, Bonthuis, Marjolein, Noordzij, Marlies, Harambat, Jerome, Groothoff, Jaap W., Alonso Melgar, Angel, Koster-Kamphuis, L., Jager, Kitty J., and Schaefer, Franz
- Abstract
Contains fulltext : 202041.pdf (publisher's version ) (Open Access)
- Published
- 2019
19. Treatment and long-term outcome in primary distal renal tubular acidosis
- Author
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Lopez-Garcia, S.C., Emma, F., Walsh, S.B., Fila, M., Hooman, N., Zaniew, M., Bertholet-Thomas, A., Colussi, G., Burgmaier, K., Levtchenko, E.N., Sharma, J., Singhal, J., Soliman, N.A., Ariceta, G., Basu, B., Murer, L., Tasic, V., Tsygin, A., Decramer, S., Gil-Pena, H., Koster-Kamphuis, L., La Scola, C., Gellermann, J., Konrad, M., Lilien, M., Francisco, T., Tramma, D., Trnka, P., Yuksel, S., Caruso, M.R., Chromek, M., Ekinci, Z., Gambaro, G., Kari, J.A., Konig, J., Taroni, F., Thumfart, J., Trepiccione, F., Winding, L., Wuhl, E., Agbas, A., Belkevich, A., Vargas-Poussou, R., Blanchard, A., Conti, G., Boyer, O., Dursun, I., Pinarbasi, A.S., Melek, E., Miglinas, M., Novo, R., Mallett, A., Milosevic, D., Szczepanska, M., Wente, S., Cheong, H.I., Sinha, R., Gucev, Z., Dufek, S., Iancu, D., Kleta, R., Schaefer, F., Bockenhauer, D., Lopez-Garcia, S.C., Emma, F., Walsh, S.B., Fila, M., Hooman, N., Zaniew, M., Bertholet-Thomas, A., Colussi, G., Burgmaier, K., Levtchenko, E.N., Sharma, J., Singhal, J., Soliman, N.A., Ariceta, G., Basu, B., Murer, L., Tasic, V., Tsygin, A., Decramer, S., Gil-Pena, H., Koster-Kamphuis, L., La Scola, C., Gellermann, J., Konrad, M., Lilien, M., Francisco, T., Tramma, D., Trnka, P., Yuksel, S., Caruso, M.R., Chromek, M., Ekinci, Z., Gambaro, G., Kari, J.A., Konig, J., Taroni, F., Thumfart, J., Trepiccione, F., Winding, L., Wuhl, E., Agbas, A., Belkevich, A., Vargas-Poussou, R., Blanchard, A., Conti, G., Boyer, O., Dursun, I., Pinarbasi, A.S., Melek, E., Miglinas, M., Novo, R., Mallett, A., Milosevic, D., Szczepanska, M., Wente, S., Cheong, H.I., Sinha, R., Gucev, Z., Dufek, S., Iancu, D., Kleta, R., Schaefer, F., and Bockenhauer, D.
- Abstract
Contains fulltext : 204259.pdf (publisher's version ) (Closed access), BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (+/-1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage >/=2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. CONCLUSION: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.
- Published
- 2019
20. Children on dialysis as well as renal transplanted children report severely impaired health-related quality of life
- Author
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Splinter, Anouck, Tjaden, Lidwien A., Haverman, L., Adams, B., Collard, L., Cransberg, Karlien, Koster-Kamphuis, L., Grootenhuis, M.A., Groothoff, Jaap W., Splinter, Anouck, Tjaden, Lidwien A., Haverman, L., Adams, B., Collard, L., Cransberg, Karlien, Koster-Kamphuis, L., Grootenhuis, M.A., and Groothoff, Jaap W.
- Abstract
Contains fulltext : 191677.pdf (Publisher’s version ) (Open Access)
- Published
- 2018
21. Children on dialysis as well as renal transplanted children report severely impaired health-related quality of life
- Author
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Splinter, A. (Anouck), Tjaden, L.A. (Lidwien A.), Haverman, L. (Lotte), Adams, B. (Brigitte), Collard, L. (Laure), Cransberg, K. (Karlien), van Dyck, M. (Maria), Hoeck, K. (Koen) van, Hoppe, B. (Bernd), Koster-Kamphuis, L. (Linda), Lilien, M. (Marc), Raes, A.K. (Ann), Taylan, C. (Christina), Grootenhuis, M.A. (Martha), Groothoff, J.W. (Jaap W.), Splinter, A. (Anouck), Tjaden, L.A. (Lidwien A.), Haverman, L. (Lotte), Adams, B. (Brigitte), Collard, L. (Laure), Cransberg, K. (Karlien), van Dyck, M. (Maria), Hoeck, K. (Koen) van, Hoppe, B. (Bernd), Koster-Kamphuis, L. (Linda), Lilien, M. (Marc), Raes, A.K. (Ann), Taylan, C. (Christina), Grootenhuis, M.A. (Martha), and Groothoff, J.W. (Jaap W.)
- Abstract
Objectives: To assess health-related quality of life (HRQoL) across three renal replacement therapy modalities (preemptive transplant, non-preemptive transplant, and dialysis) in comparison with the healthy norm and other chronic health conditions, and to explore related patient factors. Study design: All prevalent end-stage renal disease (ESRD) patients aged 8–18 years who spent at least 6 months on their current treatment modality in the Netherlands, Belgium, and part of Germany were approached to complete the Pediatric Quality of Life Inventory 4.0 (PedsQL™) questionnaire. We determined the differences between groups on PedsQL™ mean scores, the proportion of children with an impaired HRQoL (≥ 1 SD lower than the healthy norm), the proportion of problems on individual items of the PedsQL™, and the effect of time on current treatment. Linear regression models were used to explore determinants of HRQoL. Results: 192 out of 278 patients (20% preemptive transplant, 58% non-preemptive transplant, 22% dialysis) filled in the PedsQL™ (response rate 69%). Independent of treatment modality, patients had significantly lower mean scores and consequently higher proportions of impaired HRQoL on almost all domains compared to the healthy norm and other chronic health conditions. Patients with a preemptive transplant only reported higher scores on physical health compared to the other treatment modalities. Having comorbidities was the most important determinant associated with lower HRQoL scores. Conclusion: Dialysis and renal transplantation both have a severe impact on the HRQoL of children with ESRD. Physicians should be aware of this continuous burden. Furthermore, to develop tailored interventions for children with ESRD, qualitative studies are needed to gain more insight in the determinants of HRQoL in the different tre
- Published
- 2018
- Full Text
- View/download PDF
22. Children on dialysis as well as renal transplanted children report severely impaired health-related quality of life
- Author
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Splinter, A, Tjaden, LA, Haverman, L, Adams, B, Collard, L, Cransberg, Karlien, van Dyck, M, van Hoeck, KJ, Hoppe, B, Koster-Kamphuis, L, Lilien, MR, Raes, A, Taylan, C, Grootenhuis, MA, Groothoff, JW, Splinter, A, Tjaden, LA, Haverman, L, Adams, B, Collard, L, Cransberg, Karlien, van Dyck, M, van Hoeck, KJ, Hoppe, B, Koster-Kamphuis, L, Lilien, MR, Raes, A, Taylan, C, Grootenhuis, MA, and Groothoff, JW
- Published
- 2018
23. Selective sweeps in populations of the broad host range plant pathogenic fungus Sclerotinia sclerotiorum
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Derbyshire, M., Denton-Giles, M., Hane, James, Chang, S., Mousavi-Derazmahalleh, M., Raffaele, S., Buchwaldt, L., Kamphuis, L., Derbyshire, M., Denton-Giles, M., Hane, James, Chang, S., Mousavi-Derazmahalleh, M., Raffaele, S., Buchwaldt, L., and Kamphuis, L.
- Abstract
The pathogenic fungus Sclerotinia sclerotiorum infects over 600 species of plant. It is present in numerous environments throughout the world and causes significant damage to many agricultural crops. Fragmentation and lack of gene flow between populations may lead to population sub-structure. Within discrete recombining populations, positive selection may lead to a "selective sweep". This is characterised by an increase in frequency of a favourable allele leading to reduction in genotypic diversity in a localised genomic region due to the phenomenon of genetic hitchhiking. We aimed to assess whether isolates of S. sclerotiorum from around the world formed genotypic clusters associated with geographical origin and to determine whether signatures of population-specific positive selection could be detected. To do this, we sequenced the genomes of 25 isolates of S. sclerotiorum collected from four different continents, Australia, Africa (north and south), Europe and North America (Canada and the northen United States) and conducted SNP based analyses of population structure and selective sweeps. Among the 25 isolates, there was evidence for four population clusters. One of these consisted of 11 isolates from Canada, the USA and France (population 1), another consisted of five isolates from Australia and one from Morocco (population 2). A further cluster was made up of Australian isolates, and the single South African isolate appeared to be from a separate population. We found that there was evidence of distinct selective sweeps between population 1 and population 2. Many of these sweeps overlapped genes involved in transcriptional regulation, such as transcription factors. It is possible that distinct populations of S. sclerotiorum from differing global environments have undergone selective sweeps at different genomic loci. This study lays the foundation for further work into investigation of the differing selective pressures that S. sclerotiorum populations are subject
- Published
- 2018
24. De rol van 99m-Tc-MAG3 renografie in de postnatale evaluatie van kinderen met verdenking op een congenitale afwijking van de tractus urogenitalis
- Author
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Koster-Kamphuis, L., Geus-Oei, L.F. de, Schreuder, M.F., and Feitz, W.F.J.
- Subjects
Translational research [ONCOL 3] ,Renal disorder [IGMD 9] - Abstract
Item does not contain fulltext
- Published
- 2011
25. Heat-dried sclerotia of Sclerotinia sclerotiorum myceliogenically germinate in water and are able to infect Brassica napus
- Author
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Lane, D. W., primary, Kamphuis, L. G., additional, Derbyshire, M. C., additional, and Denton-Giles, M., additional
- Published
- 2018
- Full Text
- View/download PDF
26. AGORA, a data- and biobank for birth defects and childhood cancer
- Author
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Rooij, I.A.L.M. van, Zanden, L.F.M. van der, Bongers, E.M., Renkema, K.Y., Wijers, C.H., Thonissen, M., Dokter, E.M., Marcelis, C.L., Blaauw, I. de, Wijnen, M.H.W.A., Hoogerbrugge, P.M., Bökkerink, J.P., Schreuder, M.F., Koster-Kamphuis, L., Cornelissen, E.A., Kapusta, L., Heijst, A.F.J. van, Liem, K.D., Gier, R.P. de, Kuijpers-Jagtman, A.M., Admiraal, R.J., Berge, S.J., Biezen, J.J. van der, Verdonck, A., Poorten, V. Van der, Hens, G., Roosenboom, J., Lilien, M.R., Jong, T.P. de, Broens, P., Wijnen, R., Brooks, A., Franke, B., Brunner, H.G., Carels, C.E., Knoers, N.V.A.M., Feitz, W.F., Roeleveld, N., Paediatric Surgery, Urology, Paediatric Urology, Pediatric Surgery, and Clinical Genetics
- Subjects
Adult ,Male ,Databases, Factual ,etiology ,Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18] ,HYPOSPADIAS ,Congenital Abnormalities ,SDG 3 - Good Health and Well-being ,Pregnancy ,Risk Factors ,Neoplasms ,Surveys and Questionnaires ,Journal Article ,cancer ,Humans ,genetics ,Child ,Life Style ,Biological Specimen Banks ,RISK ,ENVIRONMENT ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,congenital malformations ,environment ,risk factor ,Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6] ,Infant, Newborn ,Infant ,ASSOCIATION ,Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] ,Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10] ,Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11] ,Case-Control Studies ,Child, Preschool ,Prenatal Exposure Delayed Effects ,CONGENITAL ANORECTAL-MALFORMATIONS ,Female ,Renal disorders Radboud Institute for Health Sciences [Radboudumc 11] ,Rare cancers Radboud Institute for Health Sciences [Radboudumc 9] - Abstract
Contains fulltext : 167851.pdf (Publisher’s version ) (Open Access) BACKGROUND: Research regarding the etiology of birth defects and childhood cancer is essential to develop preventive measures, but often requires large study populations. Therefore, we established the AGORA data- and biobank in the Netherlands. In this study, we describe its rationale, design, and ongoing data collection. METHODS: Children diagnosed with and/or treated for a structural birth defect or childhood cancer and their parents are invited to participate in the AGORA data- and biobank. Controls are recruited through random sampling from municipal registries. The parents receive questionnaires about demographics, family and pregnancy history, health status, prescribed medication, lifestyle, and occupational exposures before and during the index pregnancy. In addition, blood or saliva is collected from children and parents, while medical records are reviewed for diagnostic information. RESULTS: So far, we have collected data from over 6,860 families (3,747 birth defects, 905 childhood cancers, and 2,208 controls). The types of birth defects vary widely and comprise malformations of the digestive, respiratory, and urogenital tracts as well as facial, cardiovascular, kidney, skeletal, and central nervous system anomalies. The most frequently occurring childhood cancer types are acute lymphatic leukemia, Hodgkin and non-Hodgkin lymphoma, Wilms' tumor, and brain and spinal cord tumors. Our genetic and/or epidemiologic studies have been focused on hypospadias, anorectal malformations, congenital anomalies of the kidney and urinary tract (CAKUT), and orofacial clefts. CONCLUSION: The large AGORA data- and biobank offers great opportunities for investigating genetic and nongenetic risk factors for disorders in children and is open to collaborative initiatives. Birth Defects Research (Part A) 106:675-684, 2016. (c) 2016 Wiley Periodicals, Inc.
- Published
- 2016
27. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
- Author
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Maria, M., Lamers, I.J.C., Schmidts, M., Ajmal, M., Jaffar, S., Ullah, E., Mustafa, B., Ahmad, S., Nazmutdinova, K., Hoskins, B., Wijk, E. van, Koster-Kamphuis, L., Khan, M.I., Beales, P.L., Cremers, F.P.M., Roepman, R., Azam, M., Arts, H.H., Qamar, R., Maria, M., Lamers, I.J.C., Schmidts, M., Ajmal, M., Jaffar, S., Ullah, E., Mustafa, B., Ahmad, S., Nazmutdinova, K., Hoskins, B., Wijk, E. van, Koster-Kamphuis, L., Khan, M.I., Beales, P.L., Cremers, F.P.M., Roepman, R., Azam, M., Arts, H.H., and Qamar, R.
- Abstract
Contains fulltext : 167825.pdf (publisher's version ) (Open Access), Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell's signaling hub. In the current study, a combination of mutation screening, targeted sequencing of ciliopathy genes associated with BBS, and whole-exome sequencing was used for the genetic characterization of five families including four with classic BBS symptoms and one BBS-like syndrome. This resulted in the identification of novel mutations in BBS genes ARL6 and BBS5, and recurrent mutations in BBS9 and CEP164. In the case of CEP164, this is the first report of two siblings with a BBS-like syndrome with mutations in this gene. Mutations in this gene were previously associated with nephronophthisis 15, thus the current results expand the CEP164-associated phenotypic spectrum. The clinical and genetic spectrum of BBS and BBS-like phenotypes is not fully defined in Pakistan. Therefore, genetic studies are needed to gain insights into genotype-phenotype correlations, which will in turn improve the clinician's ability to make an early and accurate diagnosis, and facilitate genetic counseling, leading to directly benefiting families with affected individuals.
- Published
- 2016
28. Tubular Injury Biomarkers to Detect Gentamicin-Induced Acute Kidney Injury in the Neonatal Intensive Care Unit
- Author
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Jansen, D., Peters, E., Heemskerk, S., Koster-Kamphuis, L., Bouw, M.P.W.J.M., Roelofs, H.M.J., Oeveren, W. van, Heyst, A.F.J. van, Pickkers, P., Jansen, D., Peters, E., Heemskerk, S., Koster-Kamphuis, L., Bouw, M.P.W.J.M., Roelofs, H.M.J., Oeveren, W. van, Heyst, A.F.J. van, and Pickkers, P.
- Abstract
Contains fulltext : 171867.pdf (publisher's version ) (Closed access), Objective We evaluated whether urinary excretion of tubular injury markers could be useful for early detection of gentamicin (GM)-induced renal damage in neonates. Study Design We conducted a prospective, observational trial in neonates admitted to the neonatal intensive care unit (26 GM treated, 20 control). Kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), N-acetyl-beta-D-glucosaminidase (NAG), and pi- and alpha-glutathione-S-transferase (GSTP1-1 and GSTA1-1) were measured every 2 hours during admission and compared with serum creatinine (sCr) and urine output. Results Nine neonates developed AKI during the course of the study. The peak in excretion of urinary biomarkers preceded the peak in sCr (p < 0.0001). GM administration resulted in a more pronounced increase of sCr compared with control (13 [12-28] vs. 10 micromol/L [8.5-17]; p < 0.05). The urinary excretion of NAG (178 [104-698] vs. 32 ng/mol Cr [9-82]; p < 0.001) and NGAL (569 [168-1,681] vs. 222 ng/mol Cr [90-497]; p < 0.05) was higher in the GM group compared with control and preceded the peak of sCr and urine output decrease. Conclusion GM administration to neonates is associated with renal damage reflected by a more pronounced increase in sCr preceded by urinary excretion of biomarkers. Urinary biomarkers may be useful for earlier identification of renal injury in neonates.
- Published
- 2016
29. Quality of life and its determinants of children on renal replacement therapy: a multicentre study
- Author
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Tjaden, L., Splinter, A., Cransberg, K., Koster-Kamphuis, L., Raes, A., Taylan, C., Grootenhuis, M., Groothoff, J., Tjaden, L., Splinter, A., Cransberg, K., Koster-Kamphuis, L., Raes, A., Taylan, C., Grootenhuis, M., and Groothoff, J.
- Published
- 2016
30. A comprehensive draft genome sequence for lupin (Lupinus angustifolius), an emerging health food: Insights into plant-microbe interactions and legume evolution
- Author
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Hane, James, Ming, Y., Kamphuis, L., Nelson, M., Garg, G., Atkins, C., Bayer, P., Bravo, A., Bringans, S., Cannon, S., Edwards, D., Foley, R., Gao, L., Harrison, M., Huang, W., Hurgobin, B., Li, S., Liu, C., McGrath, A., Morahan, G., Murray, J., Weller, J., Jian, J., Singh, K., Hane, James, Ming, Y., Kamphuis, L., Nelson, M., Garg, G., Atkins, C., Bayer, P., Bravo, A., Bringans, S., Cannon, S., Edwards, D., Foley, R., Gao, L., Harrison, M., Huang, W., Hurgobin, B., Li, S., Liu, C., McGrath, A., Morahan, G., Murray, J., Weller, J., Jian, J., and Singh, K.
- Abstract
Lupins are important grain legume crops that form a critical part of sustainable farming systems, reducing fertilizer use and providing disease breaks. It has a basal phylogenetic position relative to other crop and model legumes and a high speciation rate. Narrow-leafed lupin (NLL; Lupinus angustifolius L.) is gaining popularity as a health food, which is high in protein and dietary fibre but low in starch and gluten-free. We report the draft genome assembly (609 Mb) of NLL cultivar Tanjil, which has captured > 98% of the gene content, sequences of additional lines and a dense genetic map. Lupins are unique amongst legumes and differ from most other land plants in that they do not form mycorrhizal associations. Remarkably, we find that NLL has lost all mycorrhiza-specific genes, but has retained genes commonly required for mycorrhization and nodulation. In addition, the genome also provided candidate genes for key disease resistance and domestication traits. We also find evidence of a whole genome triplication at around 25 million years ago in the genistoid lineage leading to Lupinus. Our results will support detailed studies of legume evolution and accelerate lupin breeding programmes.
- Published
- 2016
31. Comparative genomics and prediction of conditionally dispensable sequences in legume–infecting Fusarium oxysporum formae speciales facilitates identification of candidate effectors
- Author
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Williams, A., Sharma, M., Thatcher, L., Azam, S., Hane, James, Sperschneider, J., Kidd, B., Anderson, J., Ghosh, R., Garg, G., Lichtenzveig, J., Kistler, H., Shea, T., Young, S., Buck, S., Kamphuis, L., Saxena, R., Pande, S., Ma, L., Varshney, R., Singh, K., Williams, A., Sharma, M., Thatcher, L., Azam, S., Hane, James, Sperschneider, J., Kidd, B., Anderson, J., Ghosh, R., Garg, G., Lichtenzveig, J., Kistler, H., Shea, T., Young, S., Buck, S., Kamphuis, L., Saxena, R., Pande, S., Ma, L., Varshney, R., and Singh, K.
- Abstract
Background: Soil-borne fungi of the Fusarium oxysporum species complex cause devastating wilt disease on many crops including legumes that supply human dietary protein needs across many parts of the globe. We present and compare draft genome assemblies for three legume-infecting formae speciales (ff. spp.): F. oxysporum f. sp. ciceris (Foc-38-1) and f. sp. pisi (Fop-37622), significant pathogens of chickpea and pea respectively, the world’s second and third most important grain legumes, and lastly f. sp. medicaginis (Fom-5190a) for which we developed a model legume pathosystem utilising Medicago truncatula. Results: Focusing on the identification of pathogenicity gene content, we leveraged the reference genomes of Fusarium pathogens F. oxysporum f. sp. lycopersici (tomato-infecting) and F. solani (pea-infecting) and their well-characterised core and dispensable chromosomes to predict genomic organisation in the newly sequenced legume-infecting isolates. Dispensable chromosomes are not essential for growth and in Fusarium species are known to be enriched in host-specificity and pathogenicity-associated genes. Comparative genomics of the publicly available Fusarium species revealed differential patterns of sequence conservation across F. oxysporum formae speciales, with legume-pathogenic formae speciales not exhibiting greater sequence conservation between them relative to non-legume-infecting formae speciales, possibly indicating the lack of a common ancestral source for legume pathogenicity. Combining predicted dispensable gene content with in planta expression in the model legume-infecting isolate, we identified small conserved regions and candidate effectors, four of which shared greatest similarity to proteins from another legume-infecting ff. spp. Conclusions: We demonstrate that distinction of core and potential dispensable genomic regions of novel F. oxysporum genomes is an effective tool to facilitate effector discovery and the identification of gene content
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- 2016
32. Important differences in management policies for children with end-stage renal disease in the Netherlands and Belgium - report form the RICH-Q study
- Author
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Tromp, WF, Schoenmaker, NJ, v.d. Lee, JH, Adams, B, Bouts, AHM, Collard, L, Cransberg, Karlien, van Damme-Lombaerts, R, Godefroid, N, Van Hoeck, K, Kamphuis, L, Lilien, MR, Raes, AML, Offringa, M (Martin), Groothoff, JW, and Pediatrics
- Published
- 2012
33. Aspecten van het inkoopbeleid
- Author
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Kamphuis, L., Kamphuis, L., Kamphuis, L., and Kamphuis, L.
- Published
- 1996
34. Analysis of conglutin seed storage proteins across lupin species using transcriptomic, protein and comparative genomic approaches
- Author
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Foley, R., Jimenez-Lopez, J., Kamphuis, L., Hane, James, Melser, S., Singh, K., Foley, R., Jimenez-Lopez, J., Kamphuis, L., Hane, James, Melser, S., and Singh, K.
- Published
- 2015
35. A rapid method for profiling of volatile and semi-volatile phytohormones using methyl chloroformate derivatisation and GC–MS
- Author
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Rawlinson, C., Kamphuis, L., Gummer, J., Singh, Karambir, Trengove, R., Rawlinson, C., Kamphuis, L., Gummer, J., Singh, Karambir, and Trengove, R.
- Abstract
Phytohormones are central components of complex signalling networks in plants. The interplay between these metabolites, which include abscisic acid (ABA), auxin (IAA), ethylene, jasmonic acid (JA) and salicylic acid (SA), regulate plant growth and development and modulate responses to biotic and abiotic stress. Few methods of phytohormone profiling can adequately quantify a large range of plant hormones simultaneously and without the requirement for laborious or highly specialised extraction protocols. Here we describe the development and validation of a phytohormone profiling protocol, based on methyl-chloroformate derivatisation of the plant metabolites and analysis by gas chromatography/mass spectrometry (GC–MS). We describe the analysis of 11 metabolites, either plant phytohormones or intermediates of phytohormone metabolism; ABA, azelaic acid, IAA, JA and SA, and the phytohormone precursors 1-aminocyclopropane 1-carboxylic acid, benzoic acid, cinnamic acid, 13-epi-12-oxophytodienoic acid (13-epi-OPDA), linoleic acid and linolenic acid, and validate the isolation from foliar tissue of the model legume Medicago truncatula. The preparation is insensitive to the presence of water, facilitating measurement of the volatile metabolites. Quantitation was linear over four orders of magnitude, and the limits of detection between two and 10 ng/mL for all measured metabolites using a single quadrupole GC–MS.
- Published
- 2015
36. The Arabidopsis KH-Domain RNA-Binding Protein ESR1 Functions in Components of Jasmonate Signalling, Unlinking Growth Restraint and Resistance to Stress
- Author
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Thatcher, L., Kamphuis, L., Hane, James, Onate-Sanchez, L., Singh, K., Thatcher, L., Kamphuis, L., Hane, James, Onate-Sanchez, L., and Singh, K.
- Abstract
Glutathione S-transferases (GSTs) play important roles in the protection of cells against toxins and oxidative damage where one Arabidopsis member, GSTF8, has become a commonly used marker gene for early stress and defense responses. A GSTF8 promoter fragment fused to the luciferase reporter gene was used in a forward genetic screen for Arabidopsis mutants with up-regulated GSTF8 promoter activity. This identified the esr1-1 (enhanced stress response 1) mutant which also conferred increased resistance to the fungal pathogen Fusarium oxysporum. Through positional cloning, the ESR1 gene was found to encode a KH-domain containing RNA-binding protein (At5g53060). Whole transcriptome sequencing of esr1-1 identified altered expression of genes involved in responses to biotic and abiotic stimuli, hormone signaling pathways and developmental processes. In particular was an overall significant enrichment for jasmonic acid (JA) mediated processes in the esr1-1 down-regulated dataset. A subset of these genes were tested for MeJA inducibility and we found the expression of some but not all were reduced in esr1-1. The esr1-1 mutant was not impaired in other aspects of JA-signalling such as JA- sensitivity or development, suggesting ESR1 functions in specific components of the JA-signaling pathway. Examination of salicylic acid (SA) regulated marker genes in esr1-1 showed no increase in basal or SA induced expression suggesting repression of JA-regulated genes is not due to antagonistic SA-JA crosstalk. These results define new roles for KH-domain containing proteins with ESR1 unlinking JA-mediated growth and defense responses.http://doi.org/10.1371/journal.pone.0126978
- Published
- 2015
37. Characterization and mapping of LanrBo: a locus conferring anthracnose resistance in narrow-leafed lupin (Lupinus angustifolius L.)
- Author
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Fischer, K., Dieterich, R., Nelson, M., Kamphuis, L., Singh, Karambir, Rotter, B., Krezdorn, N., Winter, P., Wehling, P., Ruge-Wehling, B., Fischer, K., Dieterich, R., Nelson, M., Kamphuis, L., Singh, Karambir, Rotter, B., Krezdorn, N., Winter, P., Wehling, P., and Ruge-Wehling, B.
- Abstract
A screening for anthracnose resistance of a set of plant genetic resources of narrow-leafed lupin (Lupinus angustifolius L.) identified the breeding line Bo7212 as being highly resistant to anthracnose (Colletotrichum lupini). Segregation analysis indicated that the resistance of Bo7212 is inherited by a single dominant locus. The corresponding resistance gene was given the designation LanrBo. Previously published molecular anchor markers allowed us to locate LanrBo on linkage group NLL-11 of narrow-leafed lupin. Using information from RNAseq data obtained with inoculated resistant vs. susceptible lupin entries as well as EST-sequence information from the model genome Lotus japonicus, additional SNP and EST markers linked to LanrBo were derived. A bracket of two LanrBo-flanking markers allows for precise marker-assisted selection of the novel resistance gene in narrow-leafed lupin breeding programs.
- Published
- 2015
38. [Neonates with pseudohypoaldosteronism]
- Author
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Kleizen, K.J., Claahsen-van der Grinten, H.L., Schulte, E.O., Creemers, D.G.W.J., Koster-Kamphuis, L., and Draaisma, J.M.T.
- Subjects
Hormonal regulation [IGMD 6] ,Renal disorder [IGMD 9] - Abstract
Contains fulltext : 87395.pdf (Publisher’s version ) (Closed access)
- Published
- 2010
39. Detectie van cytokinen in de diagnostiek van ontstekingsprocessen
- Author
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Dik, Wim, van Laar, Jan, Nijenhuis, Marja, Couwenberg, Marion, Nagtzaam, Nicole, Bastiaans, Jeroen, Kamphuis, L, Kuijpers, Robert, Hooijkaas, H (Herbert), van Hagen, P.M., van Dongen, JJM, Dik, WA, Langerak, AW, van der Velden, VHJ, Hooijkaas, H, Immunology, and Ophthalmology
- Published
- 2010
40. Roze bril of oogkleppen? De visie van betrokken stakeholders op personalisering van zorgtechnologie
- Author
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Ayoubi, K., Bitter, N.A., Bouwman, R.J.R., Errami, A., Kamphuis, L., Knibbe, J.W., Oudshoorn, E.R., Paalberends, E.R., Rens, I.J.C., Wijk, M.H.F., de Zeeuw, J., de Cock Buning, J.T., Science and Society, Chemistry and Pharmaceutical Sciences, and Obstetrics and gynaecology
- Published
- 2009
41. Inoculation and growth with foliar pathogenic fungi
- Author
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Ellwood, S., Kamphuis, L., Pfaff, T., Oliver, R., Samac, D., Foster-Hartnett, B.D., Tivoli, Bernard, Onfroy, Caroline, Moussart, Anne, Murdoch University, Department of plant pathology, University of Minnesota [Twin Cities] (UMN), University of Minnesota System-University of Minnesota System, Biologie des organismes et des populations appliquées à la protection des plantes (BIO3P), AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Recherche Agronomique (INRA), and Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-AGROCAMPUS OUEST
- Subjects
[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2006
42. Children of non-Western origin with end-stage renal disease in the Netherlands, Belgium and a part of Germany have impaired health-related quality of life compared with Western children
- Author
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Schoenmaker, N.J., Haverman, L., Tromp, W.F., Lee, J.H. van der, Offringa, M., Adams, B., Bouts, A.H.M., Collard, L., Cransberg, K., Dyck, M. van, Godefroid, N., Hoeck, K. van, Koster-Kamphuis, L., Lilien, M.R., Raes, A., Taylan, C., Grootenhuis, M.A., Groothoff, J.W., Schoenmaker, N.J., Haverman, L., Tromp, W.F., Lee, J.H. van der, Offringa, M., Adams, B., Bouts, A.H.M., Collard, L., Cransberg, K., Dyck, M. van, Godefroid, N., Hoeck, K. van, Koster-Kamphuis, L., Lilien, M.R., Raes, A., Taylan, C., Grootenhuis, M.A., and Groothoff, J.W.
- Abstract
Item does not contain fulltext, BACKGROUND: Many children with end-stage renal disease (ESRD) living in Western Europe are of non-Western European origin. They have unfavourable somatic outcomes compared with ESRD children of Western origin. In this study, we compared the Health-related Quality of Life (HRQoL) of both groups. METHODS: All children (5-18 years) with ESRD included in the RICH-Q project (Renal Insufficiency therapy in Children-Quality assessment and improvement) or their parents were asked to complete the generic version of the Paediatric Quality-of-Life Inventory 4.0 (PedsQL). RICH-Q comprises the Netherlands, Belgium and a part of Germany. Children were considered to be of non-Western origin if they or at least one parent was born outside Western-European countries. Impaired HRQoL for children with ESRD of Western or non-Western origin was defined as a PedsQL score less than fifth percentile for healthy Dutch children of Western or non-Western origin, respectively. RESULTS: Of the 259 eligible children, 230 agreed to participate. One hundred and seventy-four children responded (response rate 67%) and 55 (32%) were of non-Western origin. Overall, 31 (56%) of the ESRD children of non-Western origin, and 58 (49%) of Western origin had an impaired total HRQoL score. Total HRQoL scores of children with ESRD of Western origin and non-Western origin were comparable, but scores on emotional functioning and school functioning were lower in non-Western origin (P=0.004 and 0.01, respectively). The adjusted odds ratios (95% confidence interval) for ESRD children of non-Western origin to have impaired emotional functioning and school functioning, compared with Western origin, were 3.3(1.5-7.1) and 2.2(1.1-4.2), respectively. CONCLUSION: Children with ESRD of non-Western origin in three Western countries were found to be at risk for impaired HRQoL on emotional and school functioning. These children warrant special attention.
- Published
- 2014
43. Poiseuille's law in polyuria
- Author
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Schreuder, M.F., Koster-Kamphuis, L., Schreuder, M.F., and Koster-Kamphuis, L.
- Abstract
Item does not contain fulltext
- Published
- 2014
44. Transcriptome sequencing of different narrow-leafed lupin tissue types provides a comprehensive uni-gene assembly and extensive gene-based molecular markers
- Author
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Kamphuis, L., Hane, James, Nelson, M., Gao, L., Atkins, C., Singh, K., Kamphuis, L., Hane, James, Nelson, M., Gao, L., Atkins, C., and Singh, K.
- Abstract
Narrow-leafed lupin (NLL; Lupinus angustifolius L.) is an important grain legume crop that is valuable for sustainable farming and is becoming recognized as a human health food. NLL breeding is directed at improving grain production, disease resistance, drought tolerance and health benefits. However, genetic and genomic studies have been hindered by a lack of extensive genomic resources for the species. Here, the generation, de novo assembly and annotation of transcriptome datasets derived from five different NLL tissue types of the reference accession cv. Tanjil are described. The Tanjil transcriptome was compared to transcriptomes of an early domesticated cv. Unicrop, a wild accession P27255, as well as accession 83A:476, together being the founding parents of two recombinant inbred line (RIL) populations. In silico predictions for transcriptome-derived gene-based length and SNP polymorphic markers were conducted and corroborated using a survey assembly sequence for NLL cv. Tanjil. This yielded extensive indel and SNP polymorphic markers for the two RIL populations. A total of 335 transcriptome-derived markers and 66 BAC-end sequence-derived markers were evaluated, and 275 polymorphic markers were selected to genotype the reference NLL 83A:476 × P27255 RIL population. This significantly improved the completeness, marker density and quality of the reference NLL genetic map.
- Published
- 2014
45. Prevalence of atopic diseases in patients with sarcoidosis
- Author
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Hajdarbegovic, E., primary, Kamphuis, L., additional, van Laar, J., additional, van Hagen, M., additional, Nijsten, T., additional, and Thio, B., additional
- Published
- 2014
- Full Text
- View/download PDF
46. RENAL DEVELOPMENT AND CYSTIC DISEASES
- Author
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Cabrera-Lopez, C., primary, Ars, E., additional, Marti, T., additional, Harris, P. C., additional, Torra, R., additional, Clerckx, C., additional, Migeon, T., additional, Chen, Z., additional, Ronco, P., additional, Plaisier, E., additional, Lamers, I. J., additional, Van Reeuwijk, J., additional, Azam, M., additional, Boldt, K., additional, Maria, M., additional, Koster-Kamphuis, L., additional, Qamar, R., additional, Ueffing, M., additional, Cremers, F. P., additional, Roepman, R., additional, Arts, H. H., additional, Papizh, S., additional, Dlin, V., additional, Leontieva, I., additional, Tutelman, K., additional, Perrone, R. D., additional, Bae, K. T., additional, Chapman, A. B., additional, Devuyst, O., additional, Gansevoort, R. T., additional, Grantham, J. J., additional, Higashihara, E., additional, Torres, V. E., additional, Sergeyeva, O., additional, Zhou, W., additional, Blais, J. D., additional, Czerwiec, F. S., additional, Liu, F., additional, Liao, Y., additional, Fu, P., additional, Casteleijn, N., additional, Zittema, D., additional, Bakker, S., additional, Boertien, W., additional, Gaillard, C., additional, Meijer, E., additional, Spithoven, E., additional, Struck, J., additional, Gansevoort, R., additional, Robinson, P., additional, McEwan, P., additional, Hadimeri, H., additional, Ong, A. C. M., additional, Orskov, B., additional, Peces, R., additional, Sandford, R., additional, Scolari, F., additional, Walz, G., additional, Cooke, C., additional, O'Reilly, K., additional, Riwanto, M., additional, Kapoor, S., additional, Rodriguez, D., additional, Edenhofer, I., additional, Segerer, S., additional, Wuthrich, R. P., additional, De Rechter, S., additional, Bacchetta, J., additional, Van Dyck, M., additional, Evenepoel, P., additional, De Schepper, J., additional, Levtchenko, E., additional, Mekahli, D., additional, Carr, A., additional, Makin, A., additional, Baker, A., additional, Obeidova, L., additional, Stekrova, J., additional, Seeman, T., additional, Puchmajerova, A., additional, Reiterova, J., additional, Kohoutova, M., additional, Tesar, V., additional, Treille, S., additional, Bailly, J.-M., additional, Guillaume, B., additional, Tuta, L., additional, Stanigut, A., additional, Botea, F., additional, Jo, H. A., additional, Park, H. C., additional, Kim, H., additional, Han, M., additional, Huh, H., additional, Jeong, J. C., additional, Oh, K.-H., additional, Yang, J., additional, Koo, T. Y., additional, Hwang, Y.-H., additional, Ahn, C., additional, Pisani, A., additional, Remuzzi, G., additional, Ruggenenti, P., additional, Riccio, E., additional, Visciano, B., additional, Spinelli, L., additional, Kim, J. I., additional, Park, K. M., additional, Liu, F. X., additional, Rutherford, P., additional, Smoyer-Tomic, K., additional, Martinez Jimenez, V., additional, Comas, J., additional, Arcos, E., additional, Diaz, J. M., additional, Muray, S., additional, Cabezuelo, J., additional, Ballarin, J., additional, Miyaoka, T., additional, Morimoto, S., additional, Kataoka, H., additional, Mochizuki, T., additional, Tsuchiya, K., additional, Ichihara, A., additional, and Nitta, K., additional
- Published
- 2014
- Full Text
- View/download PDF
47. Policy variation in donor and recipient status in 11 pediatric renal transplantation centers.
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Huis, M. van, Schoenmaker, N.J., Groothoff, J.W., Lee, J.H. van der, Cransberg, K., Bouts, A.H.M., Collard, L., Dyck, M. van, Godefroid, N., Hoeck, K. van, Taylan, C., Koster-Kamphuis, L., Lilien, M.R., Raes, A., Ranguelov, N., Huis, M. van, Schoenmaker, N.J., Groothoff, J.W., Lee, J.H. van der, Cransberg, K., Bouts, A.H.M., Collard, L., Dyck, M. van, Godefroid, N., Hoeck, K. van, Taylan, C., Koster-Kamphuis, L., Lilien, M.R., Raes, A., and Ranguelov, N.
- Abstract
01 juni 2013, Item does not contain fulltext, BACKGROUND: Evidence-based guidelines for pediatric renal transplantation (Tx) are lacking. This may lead to unwanted treatment variations. We aimed to quantify the variation in treatment policies and its consequences in daily practice in 11 centers that provide renal Tx for children in three European countries. METHODS: We surveyed Tx policies in all ten centers in the Netherlands and Belgium and one center in Germany. We compared Tx policies with the therapies actually provided and with recommendations from available published guidelines and existing literature. Information on treatment policies was obtained by a questionnaire; information on care actually provided was registered prospectively from 2007 to 2011. The clinical guidelines were identified by searches of MEDLINE and websites of pediatric nephrology organizations. RESULTS: Between centers, we found discrepancies in policies on: the minimum accepted recipient weight (8-12 kg), the maximum living and deceased donor age (50-75 and 45-60 years, respectively). HLA-match policies varied between acceptation of all mismatches to at least 1A1B1DR match donor transplantations amounting to 49 % in the Netherlands versus 26 % in Belgium (p = 0.006). CONCLUSIONS: Management policies for renal Tx in children vary considerably between centers and nations. This has a direct impact on the delivered care, and by extrapolation, on health outcome.
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- 2013
48. The essential role of genetic resources in narrow-leafed lupin improvement
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Berger, J., Clements, J., Nelson, M., Kamphuis, L., Singh, Karambir, Buirchell, B., Berger, J., Clements, J., Nelson, M., Kamphuis, L., Singh, Karambir, and Buirchell, B.
- Abstract
The narrow-leafed lupin (Lupinus angustifolius L.) is a legume with much to offer to agriculture and human wellbeing through its adaptation to nitrogen- and phosphorus-deficient, acid, sandy soils, and production of nutritious, very low glycemic index grain with manifold health benefits. However, the industry has exploited only a small fraction of the genetic and adaptive diversity of the species, reflecting a short and fragmented domestication history. Given declining global production, unlocking the potential residing in untapped sources of genetic diversity to maximise yield and value is critical for the future of the crop. To this end, a wide range of genetic resources is under evaluation. The Australian Lupin Collection comprises almost 4600 diverse, mostly wild accessions, many of which have been genotyped using DArT (Diversity Array Technology) markers, and collection sites characterised to facilitate ecophysiology of contrasting material. Additional exotic genetic resources include recombinant inbred line and mutant populations, as well as inter-specific crosses. These resources are being used to investigate specific adaptation and genetic and molecular control of key traits, all of which will be expedited by current efforts to provide a reference genome sequence for L. angustifolius. Genetic base broadening is the current breeding focus, combining distantly related wild and domestic material with elite cultivars in double-backcrosses or topcrosses, with dramatic effects on yield. In future this will be complemented by marker-based, targeted trait introgression to improve narrow-leafed lupin adaptation, quality/value, and fit into the farming system. © CSIRO 2013.
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- 2013
49. Plant-aphid interactions with a focus on legumes
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Kamphuis, L., Zulak, Katherine, Gao, L., Anderson, J., Singh, K., Kamphuis, L., Zulak, Katherine, Gao, L., Anderson, J., and Singh, K.
- Abstract
Sap-sucking insects such as aphids cause substantial yield losses in agriculture by draining plant nutrients as well as vectoring viruses. The main method of control in agriculture is through the application of insecticides. However, aphids rapidly evolve mechanisms to detoxify these, so there is a need to develop durable plant resistance to these damaging insect pests. The focus of this review is on aphid interactions with legumes, but work on aphid interactions with other plants, particularly Arabidopsis and tomato is also discussed. This review covers advances on the plant side of the interaction, including the identification of major resistance genes and quantitative trait loci conferring aphid resistance in legumes, basal and resistance gene mediated defence signalling following aphid infestation and the role of specialised metabolites. On the aphid side of the interaction, this review covers what is known about aphid effector proteins and aphid detoxification enzymes. Recent advances in these areas have provided insight into mechanisms underlying resistance to aphids and the strategies used by aphids for successful infestations and have significant impacts for the delivery of durable resistance to aphids in legume crops.
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- 2013
50. Characterization and genetic dissection of resistance to spotted alfalfa aphid (Therioaphis trifolii) in Medicago truncatula
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Kamphuis, L., Lichtenzveig, Judith, Peng, K., Guo, S., Klingler, J., Siddique, K., Gao, L., Singh, K., Kamphuis, L., Lichtenzveig, Judith, Peng, K., Guo, S., Klingler, J., Siddique, K., Gao, L., and Singh, K.
- Abstract
Aphids cause significant yield losses in agricultural crops worldwide. Medicago truncatula, a model legume, cultivated pasture species in Australia and close relative of alfalfa (Medicago sativa), was used to study the defence response against Therioaphis trifolii f. maculate [spotted alfalfa aphid (SAA)]. Aphid performance and plant damage were compared among three accessions. A20 is highly susceptible, A17 has moderate resistance, and Jester is strongly resistant. Subsequent analyses using A17 and A20, reciprocal F1s and an A17×A20 recombinant inbred line (RIL) population revealed that this moderate resistance is phloem mediated and involves antibiosis and tolerance but not antixenosis. Electrical penetration graph analysis also identified a novel waveform termed extended potential drop, which occurred following SAA infestation of M. truncatula. Genetic dissection using the RIL population revealed three quantitative trait loci on chromosomes 3, 6, and 7 involved in distinct modes of aphid defence including antibiosis and tolerance. An antibiosis locus resides on linkage group 3 (LG3) and is derived from A17, whereas a plant tolerance and antibiosis locus resides on LG6 and is derived from A20, which exhibits strong temporary tolerance. The loci identified reside in regions harbouring classical resistance genes, and introgression of these loci in current medic cultivars may help provide durable resistance to SAA, while elucidation of their molecular mechanisms may provide valuable insight into other aphid-plant interactions.
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- 2013
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