J P Drenth

Summary

Country: USA

Publications

  1. ncbi Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome
    I S Klasen
    Department of Clinical Chemistry, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Clin Diagn Lab Immunol 8:58-61. 2001
  2. ncbi [Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain]
    Monique H M Derikx
    Universitair Medisch Centrum St Radboud, afd Maag, Darm en Leverziekten, Nijmegen, The Netherlands
    Ned Tijdschr Geneeskd 153:A324. 2009
  3. ncbi Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
    Jeroen C H van der Hilst
    Department of General Internal Medicine, Radboud University Nijmegen, Medical Centre, Nijmegen, The Netherlands
    Medicine (Baltimore) 87:301-10. 2008
  4. ncbi The C50T polymorphism of the cyclooxygenase-1 gene and the risk of thrombotic events during low-dose therapy with acetyl salicylic acid
    Nick Clappers
    Department of Cardiology 670, Radboud University Nijmegen MC, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Thromb Haemost 100:70-5. 2008
  5. ncbi Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A
    Joost P H Drenth
    Division of Gastroenterology and Hepatology, Department of Medicine, University Medical Center St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Arch Dermatol 144:320-4. 2008
  6. ncbi Rationale and design of the RESOLVE trial: lanreotide as a volume reducing treatment for polycystic livers in patients with autosomal dominant polycystic kidney disease
    Tom J G Gevers
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    BMC Nephrol 13:17. 2012
  7. ncbi Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 7:92. 2011
  8. ncbi Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia
    Mark E Samuels
    Département de Médicine, Centre de Recherche du CHUM, Local M 5226, Hopital Notre Dame, 1560 rue Sherbrooke Est, Montreal QC H2L 4M1, Canada
    Mol Pain 4:21. 2008
  9. ncbi Pulmonary sclerosing hemangioma detected by fluorodeoxyglucose positron emission tomography in familial adenomatous polyposis: report of a case
    Daan B de Koning
    Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Dis Colon Rectum 50:1987-91. 2007
  10. ncbi Gastroparesis in patients with inactive Crohn's disease: a case series
    Jón O Kristinsson
    Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands
    BMC Gastroenterol 7:11. 2007

Detail Information

Publications77

  1. ncbi Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome
    I S Klasen
    Department of Clinical Chemistry, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Clin Diagn Lab Immunol 8:58-61. 2001
    ..These results indicate a continuous, presumably systemic, stimulation of IgA in HIDS patients...
  2. ncbi [Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain]
    Monique H M Derikx
    Universitair Medisch Centrum St Radboud, afd Maag, Darm en Leverziekten, Nijmegen, The Netherlands
    Ned Tijdschr Geneeskd 153:A324. 2009
    ..To assess genetic, clinical and morphological characteristics of hereditary pancreatitis, a rare type of chronic pancreatitis with an early onset of symptoms, which is, among others, caused by mutations in the PRSS1 gene...
  3. ncbi Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
    Jeroen C H van der Hilst
    Department of General Internal Medicine, Radboud University Nijmegen, Medical Centre, Nijmegen, The Netherlands
    Medicine (Baltimore) 87:301-10. 2008
    ..Although the frequency of attacks decreases during the patient's life, many patients continue to have frequent attacks. HIDS impairs several aspects of quality of life...
  4. ncbi The C50T polymorphism of the cyclooxygenase-1 gene and the risk of thrombotic events during low-dose therapy with acetyl salicylic acid
    Nick Clappers
    Department of Cardiology 670, Radboud University Nijmegen MC, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Thromb Haemost 100:70-5. 2008
    ..However, in this cohort of patients using low-dose aspirin for secondary prevention the polymorphism was not associated with a higher risk of atherothrombotic events...
  5. ncbi Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A
    Joost P H Drenth
    Division of Gastroenterology and Hepatology, Department of Medicine, University Medical Center St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Arch Dermatol 144:320-4. 2008
    ..To elucidate the rate of missense mutations in the SCN9A gene (which encodes sodium channel Na(v)1.7) (OMIM 603415) among patients with primary erythermalgia and to examine the possibility that other sodium channels can cause the disease...
  6. ncbi Rationale and design of the RESOLVE trial: lanreotide as a volume reducing treatment for polycystic livers in patients with autosomal dominant polycystic kidney disease
    Tom J G Gevers
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    BMC Nephrol 13:17. 2012
    ..The RESOLVE trial aims to assess the efficacy of lanreotide treatment in ADPKD patients with symptomatic polycystic livers. In this study we present the design of the RESOLVE trial...
  7. ncbi Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 7:92. 2011
    ..In this paper we describe three patients who house the NaV1.7/I228M variant...
  8. ncbi Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia
    Mark E Samuels
    Département de Médicine, Centre de Recherche du CHUM, Local M 5226, Hopital Notre Dame, 1560 rue Sherbrooke Est, Montreal QC H2L 4M1, Canada
    Mol Pain 4:21. 2008
    ..This is the second reported study of potential compound heterozygosity for coding polymorphisms in Nav1.7, the first being in a patient with paroxysmal extreme pain disorder...
  9. ncbi Pulmonary sclerosing hemangioma detected by fluorodeoxyglucose positron emission tomography in familial adenomatous polyposis: report of a case
    Daan B de Koning
    Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Dis Colon Rectum 50:1987-91. 2007
    ..It is important to be aware of the association of familial adenomatous polyposis and sclerosing hemangioma...
  10. ncbi Gastroparesis in patients with inactive Crohn's disease: a case series
    Jón O Kristinsson
    Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands
    BMC Gastroenterol 7:11. 2007
    ..The aim of this case series was to evaluate clinical characteristics of 5 patients with inflammatory bowel disease and symptoms and signs of upper gut dysmotility...
  11. ncbi Polymorphisms in gene encoding TRPV1-receptor involved in pain perception are unrelated to chronic pancreatitis
    Aura A J van Esch
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, The Netherlands
    BMC Gastroenterol 9:97. 2009
    ..The aim of our study was to investigate the genetic variation of TRPV1 in Dutch patients with chronic pancreatitis and healthy controls...
  12. ncbi Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study
    Karin F Kok
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    BMC Gastroenterol 10:22. 2010
    ....
  13. ncbi Genetic aspects of chronic pancreatitis, and the exploration of an association with keratin 8/18
    J P H Drenth
    Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St. Radboud, Nijmegen, The Netherlands
    Dig Liver Dis 35:386-8. 2003
  14. ncbi Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease
    Joost P H Drenth
    Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St Radboud, Nijmegen, The Netherlands
    Hepatology 39:924-31. 2004
    ..In conclusion, we propose that, on the basis of our results, genetic screening for PRKCSH gene mutations should be limited to patients either with a positive family history for PCLD or who have severe polycystic liver disease...
  15. ncbi Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease
    Joost P H Drenth
    Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 18T, Room 101, Bethesda, MD 20892, USA
    Gastroenterology 126:1819-27. 2004
    ..Thus, the exact localization and cellular function of hepatocystin remain unclear...
  16. ncbi Chronic pancreatitis resulting from genetic mutations in trypsin and trypsin inhibitors
    J P H Drenth
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Neth J Med 65:401. 2007
  17. ncbi Polycystic liver disease is a disorder of cotranslational protein processing
    Joost P H Drenth
    The Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St Radboud, 6500 HB Nijmegen, The Netherlands
    Trends Mol Med 11:37-42. 2005
    ....
  18. ncbi SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels
    Joost P H Drenth
    Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    J Invest Dermatol 124:1333-8. 2005
    ..These data establish primary erythermalgia as a neuropathic disorder and offers hope for treatment of this incapacitating painful disorder...
  19. ncbi [From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene]
    J P H Drenth
    Universitair Medisch Centrum St Radboud, afd Maag, Darm en Leverziekten, 547, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 150:194-6. 2006
    ..It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia...
  20. ncbi Do COX-2 inhibitors give enough gastrointestinal protection?
    Joost P H Drenth
    Department of Gastroenterology and Hepatology, Heart Lung Centre, Radboud University Nijmegen, Medical Centre, 6500 HB Nijmegen, Netherlands
    Lancet 369:439-40. 2007
  21. ncbi Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders
    Joost P H Drenth
    Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St Radboud, Nijmegen, The Netherlands
    J Clin Invest 117:3603-9. 2007
    ..This review highlights these recent developments and discusses the critical role of Na(v)1.7 in pain sensation in humans...
  22. ncbi Hepatitis C virus infection management in 2012
    J J M van Gulick
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Panminerva Med 54:1-9. 2012
    ..Finally, strategic use of these agents comes with stopping rules and require close monitoring of the HCV viral load...
  23. ncbi Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis
    J P H Drenth
    Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St Radboud, Nijmegen, The Netherlands
    Gut 50:687-92. 2002
    ....
  24. ncbi Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease
    Joost P H Drenth
    The Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center, St Radboud, Nijmegen, The Netherlands
    Nat Genet 33:345-7. 2003
    ..The protein encoded by PRKCSH, here named hepatocystin, is predicted to localize to the endoplasmic reticulum. These findings establish germline mutations in PRKCSH as the probable cause of PCLD...
  25. ncbi The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32
    J P Drenth
    Department of Medicine, Division of Gastroenterology, University Medical Center St Radboud, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 68:1277-82. 2001
    ..Identification of the primary erythermalgia gene will allow a better clinical classification of this pleomorphic group of disorders...
  26. ncbi Reduced diffusion in liver cirrhosis is related to impairment of protein liver synthesis
    J P H Drenth
    Dept. of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St Radboud, Nijmegen, The Netherlands
    Scand J Gastroenterol 37:1338-40. 2002
  27. ncbi [From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II]
    J P H Drenth
    Universitair Medisch Centrum St Radboud, afd Maag, Darm en Leverziekten, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 146:1488-90. 2002
    ..There is a persistent unconjugated hyperbilirubinemia (range 300-850 mumol/l) with the plasma concentrations being higher in type I than in type II. Genetic mutations in exon 1-5 cause both Crigler-Najjar type I and type II...
  28. ncbi Everolimus and long acting octreotide as a volume reducing treatment of polycystic livers (ELATE): study protocol for a randomized controlled trial
    Melissa Chrispijn
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Trials 12:246. 2011
    ..This trial aims to assess the benefit of combination therapy of everolimus and octreotide compared to octreotide monotherapy. In this study we present the structure of the trial and the characteristics of the included patients...
  29. ncbi Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease
    Esmé Waanders
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Hum Mutat 27:830. 2006
    ..Frequency and severity of mutations is higher among patients with more than 20 liver cysts, but also patients with as few as eight liver cysts can be mutation carriers...
  30. ncbi Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever
    A Simon
    Division of General Internal Medicine, 541, UMC St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Arch Intern Med 161:2491-3. 2001
    ..Use of a short course of recombinant p75TNFR:Fc fusion protein (etanercept) induced prolonged remission in one patient...
  31. ncbi [From gene to disease; hereditary pancreatitis]
    J P Drenth
    Universitair Medisch Centrum St Radboud, afd Maag, Darm en Leverziekten, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 144:2301-2. 2000
    ..Mutational analysis identified cationic trypsinogen as the disease gene. Cationic trypsinogen mutations are thought to result in resistance of this molecule to autolysis...
  32. ncbi Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial
    J P Drenth
    Department of Medicine, Division of Gastroenterology, University Medical Center St Radboud, Nijmegen, The Netherlands
    J Pharmacol Exp Ther 298:1221-6. 2001
    ..The effect of thalidomide in HIDS is limited to a decrease in acute phase protein synthesis without an effect on the attack rate...
  33. ncbi Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p
    Esmé Waanders
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Histochem Cell Biol 129:301-10. 2008
    ..The results support the hypothesis that cyst formation in PCLD results from a cellular recessive mechanism involving loss of hepatocystin. Cystogenesis in SEC63-associated PCLD occurs via a different mechanism...
  34. ncbi [From gene to disease; tumor necrosis factor receptor and a syndrome of familial periodic fever]
    A Simon
    afd. Algemene Interne Geneeskunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 145:77-8. 2001
    ..The acronym TRAPS (TNF-receptor associated periodic syndrome) has been proposed as a more accurate name...
  35. ncbi Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease
    Manoe J Janssen
    Department of Gastroenterology and Hepatology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Hepatol 52:432-40. 2010
    ..In this review we will discuss the clinical-genetic features of PCLD and CDG as well as their biochemical pathways with the aim to identify novel directions of research into cystogenesis...
  36. ncbi Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients
    Esmé Waanders
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Proteome Res 7:2490-5. 2008
    ..PCLD cysts develop from intralobular bile ductules and cyst fluid mainly contains common serum proteins comparable to that of other polycystic diseases...
  37. ncbi Polymorphisms in genes encoding acetylsalicylic acid metabolizing enzymes are unrelated to upper gastrointestinal health in cardiovascular patients on acetylsalicylic acid
    Martijn G H van Oijen
    Department of Gastroenterology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Br J Clin Pharmacol 60:623-8. 2005
    ....
  38. ncbi Increased circulating cytokine receptors and ex vivo interleukin-1 receptor antagonist and interleukin-1beta production but decreased tumour necrosis factor-alpha production after a 5-km run
    J P Drenth
    University Hospital St Radboud, Nijmegen, The Netherlands
    Eur J Clin Invest 28:866-72. 1998
    ..In addition, cytokines were measured in the supernatants from whole-blood cell cultures incubated with lipolysaccharide (LPS)...
  39. ncbi Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease
    Inge A Hoevenaren
    Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Liver Int 28:264-70. 2008
    ..The goal of this study was to compare the clinical features of patients with isolated polycystic liver disease (PCLD) with those of patients with polycystic liver and autosomal dominant polycystic kidney disease (ADPKD)...
  40. ncbi Association between Toll-like receptor 4 and inflammatory bowel disease
    Liekele E Oostenbrug
    Department of Gastroenterology and Hepatology, University of Groningen Medical Center, Groningen, The Netherlands
    Inflamm Bowel Dis 11:567-75. 2005
    ..As such, there is a potentially important role of TLR4 in the pathogenesis of inflammatory bowel disease (IBD). We studied the involvement of TLR4 in IBD in a large population of Dutch patients with IBD and in family-based controls...
  41. ncbi Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial
    Loes van Keimpema
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Gastroenterology 137:1661-8.e1-2. 2009
    ..We evaluated the effects of lanreotide, a somatostatin analogue, in patients with polycystic liver because of autosomal-dominant (AD) PKD or autosomal-dominant polycystic liver disease (PCLD)...
  42. ncbi Glutathione S-transferase Mu null genotype affords protection against alcohol induced chronic pancreatitis
    Mariette Verlaan
    Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Centre, St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Med Genet A 120:34-9. 2003
    ..48, 95% CI: 0.26-0.89). The frequency of the GSTM1 null genotype is significantly lower in alcoholic CP patients, especially young female. This suggests that GSTM1 null alcohol users, particularly young female, are less susceptible to CP...
  43. ncbi Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool
    A Simon
    University Medical Center St. Radboud, Box 9101, 6500 HB Nijmegen, The Netherlands
    Ann Intern Med 135:338-43. 2001
    ..The IgD level did not correlate with disease severity, mevalonate kinase enzyme activity, or genotype. CONCLUSION: Genetic heterogeneity exists among patients with a clinical diagnosis of HIDS...
  44. ncbi [Aortic stenosis and intestinal blood loss from angiodysplasia: valve replacement is a therapeutic option]
    J P Drenth
    Universitair Medisch Centrum St Radboud, Kliniek voor Inwendige Ziekten, afd Maag, Darm en Leverziekten, Nijmegen
    Ned Tijdschr Geneeskd 144:2237-40. 2000
    ..Angiodysplasias are a common source of gastrointestinal bleeding with an invisible origin. Data from the literature suggest an association between aortic stenosis and angiodysplasia although epidemiological evidence is lacking...
  45. ncbi Aspiration-sclerotherapy results in effective control of liver volume in patients with liver cysts
    Loes van Keimpema
    Department of Gastroenterology and Hepatology, University Medical Center St Radboud, Nijmegen, The Netherlands
    Dig Dis Sci 53:2251-7. 2008
    ..To study the extent to which aspiration-sclerotherapy reduces liver volume and whether this therapy results in relief of symptoms...
  46. ncbi Divergent roles of SPINK1 and PRSS2 variants in tropical calcific pancreatitis
    Santhosh Sundaresan
    Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands
    Pancreatology 9:145-9. 2009
    ..As anionic trypsinogen (PRSS2) G191R protects against chronic pancreatitis in Europeans, we investigated whether this variant protects from TCP in Indians...
  47. ncbi Carbohydrate antigen 19-9 is extremely elevated in polycystic liver disease
    Esmé Waanders
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Liver Int 29:1389-95. 2009
    ..We examined the value of CA19-9 measurement in polycystic livers after observing high CA19-9 cyst fluid levels in a benign polycystic liver case...
  48. ncbi Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis
    Monique H M Derikx
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, The Netherlands
    Best Pract Res Clin Gastroenterol 24:251-70. 2010
    ..In this review we will discuss the various CP subtypes in relation to the respective genetic variants. This review will also address the implications of genetic testing in daily clinical practise...
  49. ncbi Disrupted cell adhesion but not proliferation mediates cyst formation in polycystic liver disease
    Esmé Waanders
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Mod Pathol 21:1293-302. 2008
    ..Moreover differential findings for PRKCSH- and SEC63-associated polycystic liver disease suggest a divergent mechanism for cystogenesis in these two groups...
  50. ncbi A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome
    Anna Simon
    Department of General Internal Medicine, UMC St. Radboud, Nijmegen, The Netherlands
    Am J Med 114:148-52. 2003
  51. ncbi Nucleotide-binding oligomerization domain-2 modulates specific TLR pathways for the induction of cytokine release
    Mihai G Netea
    Department of Medicine, Radboud University Medical Center Nijmegen, The Netherlands
    J Immunol 174:6518-23. 2005
    ..Thus, interaction between NOD2 and specific TLR pathways may represent an important modulatory mechanism of innate immune responses...
  52. ncbi Genetic polymorphisms in UDP-glucuronosyltransferase 1A6 are not associated with NSAIDs-related peptic ulcer haemorrhage
    Martijn G H van Oijen
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Drug Metab Lett 3:199-204. 2009
    ..8-7.3). UGT1A6 genotype frequencies did not differ between patients with peptic ulcer and the two control groups (p=0.76). We conclude that polymorphic UGT1A6 is not implicated in the pathogenesis of NSAIDs-related peptic ulcer disease...
  53. ncbi [18F]Fluoro-2-deoxy-D-glucose positron emission tomography detects gastric carcinoma in an early stage in an asymptomatic E-cadherin mutation carrier
    Mariette C A van Kouwen
    Department of Gastroenterology, University Medical Center St. Radboud, Nijmegen, The Netherlands
    Clin Cancer Res 10:6456-9. 2004
    ..This calls for further investigation of the role of FDG-PET scan as a screening modality in HDGC...
  54. ncbi Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6 and 1A8 are not involved in chronic pancreatitis
    Mariette Verlaan
    Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Pharmacogenetics 14:351-7. 2004
    ..Recently, a genetic polymorphism in UGT1A7 was possibly associated with an increased risk for CP. We investigated whether polymorphisms in the genes for UGT1A1, UGT1A6 and UGT1A8 modified the risk for CP...
  55. ncbi Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome
    Evelien J Bodar
    Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Blood 109:2416-8. 2007
    ....
  56. ncbi NOD2 mediates anti-inflammatory signals induced by TLR2 ligands: implications for Crohn's disease
    Mihai G Netea
    Department of Medicine, University Medical Center St Radboud, Nijmegen, The Netherlands
    Eur J Immunol 34:2052-9. 2004
    ..In conclusion, defective NOD2 function results in a pro-inflammatory cytokine bias after stimulation of mononuclear cells with TLR2 stimuli, and this could contribute to the overwhelming inflammation seen in Crohn's disease...
  57. ncbi Laparoscopic fenestration of liver cysts in polycystic liver disease results in a median volume reduction of 12.5%
    Loes van Keimpema
    Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St Radboud, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Gastrointest Surg 12:477-82. 2008
    ..Laparoscopic fenestration is one of the options to reduce liver volume and to relieve symptoms. This study was performed to evaluate the safety and efficacy of laparoscopic liver cyst fenestration...
  58. ncbi Genetic polymorphisms in alcohol-metabolizing enzymes and chronic pancreatitis
    Mariette Verlaan
    Department of Medicine, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Alcohol Alcohol 39:20-4. 2004
    ..Therefore we determined whether polymorphisms in the genes for alcohol dehydrogenase 3 (ADH3) or cytochrome p450 2E1 (CYP2E1) predispose to the development of CP...
  59. ncbi Crohn's disease patients homozygous for the 3020insC NOD2 mutation have a defective NOD2/TLR4 cross-tolerance to intestinal stimuli
    Bart Jan Kullberg
    Department of Medicine, Radboud University Nijmegen Medical Center, Nijmegen, and Nijmegen University Center for Infectious Diseases, Nijmegen, The Netherlands
    Immunology 123:600-5. 2008
    ..In conclusion, we propose the absence of NOD2/TLR4 cross-tolerance as a central mechanism for the increased susceptibility to Crohn's disease in individuals with NOD2 mutations...
  60. ncbi Influence of alpha-1 antitrypsin heterozygosity on treatment efficacy of HCV combination therapy
    Karin F Kok
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Gastroenterol Hepatol 22:808-12. 2010
    ..There is limited evidence to suggest that there is an increased prevalence of heterozygous A1AT carriers in HCV, but it is unclear how this affects treatment success...
  61. ncbi Upper gastrointestinal endoscopy in patients aged 85 years or more. Results of a feasibility study in a district general hospital
    Mariette C A van Kouwen
    Department of Gastroenterology and Hepatology, University Medical Center St Radboud, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Arch Gerontol Geriatr 37:45-50. 2003
    ..8%). In these patients, UGE is worthwhile and should not be omitted because of age considerations...
  62. ncbi Functional and genetic evidence that the Mal/TIRAP allele variant 180L has been selected by providing protection against septic shock
    Bart Ferwerda
    Department of Internal Medicine and Nijmegen Institute for Infectious Inflammation and Immunity, Radboud University Nijmegen Medical Center, HB, Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 106:10272-7. 2009
    ..This combination of functional and genetic data provides unique insights to our understanding of the pathogenesis of sepsis...
  63. ncbi Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants
    Monique H M Derikx
    Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands
    Eur J Gastroenterol Hepatol 21:889-94. 2009
    ..Chymotrypsinogen C (CTRC) degrades trypsinogen and loss-of-function variants have been found in European patients with chronic pancreatitis. Preliminary data indicate that CTRC might increase the risk for TCP...
  64. ncbi Effect of a specific cyclooxygenase-gene polymorphism (A-842G/C50T) on the occurrence of peptic ulcer hemorrhage
    Martijn G H van Oijen
    Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Dig Dis Sci 51:2348-52. 2006
    ..75 (range, 0.19-3.01) compared with wild type. The COX-1 A-842G/C50T SNP does not influence the risk for developing peptic ulcer bleeding...
  65. ncbi Reliability of the Roenigk classification of liver damage after methotrexate treatment for psoriasis: a clinicopathologic study of 160 liver biopsy specimens
    Maartje A M Berends
    Department of Dermatology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6525 GL Nijmegen, The Netherlands
    Arch Dermatol 143:1515-9. 2007
    ..To determine the interobserver reliability of the Roenigk score as a classification system of liver damage and its possible consequences for clinical practice...
  66. ncbi Assessment of oxidative stress in chronic pancreatitis patients
    Mariette Verlaan
    Department of Gastroenterology, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    World J Gastroenterol 12:5705-10. 2006
    ..To assess the levels of antioxidant capacity and oxidative damage in blood of chronic pancreatitis (CP) patients in comparison with those in healthy control subjects, by using several different analytical techniques...
  67. ncbi Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer
    Matthias Treiber
    Department of Hepatology and Gastroenterology, Charite, Campus Virchow Klinikum, Universitatsmedizin Berlin, Berlin, Germany
    J Mol Med (Berl) 84:1015-22. 2006
    ..6%) control subjects of African descent. Our data suggest that the KRT8 alterations, Y54H and G62C, do not predispose patients to the development of pancreatitis or pancreatic cancer...
  68. ncbi A loss of function polymorphism (G191R) of anionic trypsinogen (PRSS2) confers protection against chronic pancreatitis
    Sundaresan Santhosh
    Pancreas 36:317-20. 2008
  69. ncbi Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7
    Jan J Michiels
    Haemostasis and Thrombosis Research, Department of Haematology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium
    Arch Neurol 62:1587-90. 2005
    ..Autosomal dominant primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet...
  70. ncbi FDG-PET is able to detect pancreatic carcinoma in chronic pancreatitis
    Mariette C A van Kouwen
    Department of Gastroenterology, University Medical Center, St Radboud, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Eur J Nucl Med Mol Imaging 32:399-404. 2005
    ..A simple, reliable screening method for malignant degeneration is highly desirable. We set out to investigate whether FDG-PET is able to detect CA in the setting of CP and can fulfil a potential role in the early detection of CA in CP...
  71. ncbi Short mucin 6 alleles are associated with H pylori infection
    Thai V Nguyen
    Department of Gastroenterology, Can Tho University of Medicine and Pharmacy, Viet Nam
    World J Gastroenterol 12:6021-5. 2006
    ..To investigate the relationship between mucin 6 (MUC6) VNTR length and H pylori infection...
  72. ncbi Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation
    Ramón Peces
    Servicio de Nefrologia, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain
    World J Gastroenterol 11:7690-3. 2005
    ..Doppler sonography, computed tomography (CT) and magnetic resonance (MR) imaging are effective in documenting the underlying lesions in a non-invasive way...
  73. ncbi Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome--a rare disease with a new symptom
    Sven Armbrust
    University Children s Hospital, Soldmannstrasse 15, 17487, Greifswald, Germany
    Eur J Pediatr 164:391-4. 2005
    ..Variant hyperimmunoglobulinaemia D syndrome can be present in one family...
  74. ncbi Biochemical and biophysical assessment of MTX-induced liver fibrosis in psoriasis patients: Fibrotest predicts the presence and Fibroscan predicts the absence of significant liver fibrosis
    Maartje A M Berends
    Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Liver Int 27:639-45. 2007
    ..To monitor this serial liver biopsies were performed. The Fibroscan and the Fibrotest are two novel, non-invasive methods that might be able to assess MTX-induced hepatic fibrosis...
  75. ncbi Paraoxonase 1-192Q allele is a risk factor for idiopathic chronic pancreatitis
    Mariette Verlaan
    Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Medical Centre, Nijmegen, The Netherlands
    Mol Diagn 9:9-15. 2005
    ..Genetic variations resulting in variable activity rates of this enzyme, are of toxicological and physiological importance...
  76. ncbi Serum creatine kinase as predictor of clinical course in rhabdomyolysis: a 5-year intensive care survey
    Arthur R de Meijer
    Department of Intensive Care, Meander Medical Centre, P O Box 1502, 3800 BM, Amersfoort, The Netherlands
    Intensive Care Med 29:1121-5. 2003
    ..To evaluate the risk factors for the development of acute renal failure (ARF) in severe rhabdomyolysis...
  77. ncbi Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis
    Jonas Rosendahl
    Department of Gastroenterology and Hepatology, University of Leipzig, Philipp Rosenthal Strasse 27, 04103 Leipzig, Germany
    Nat Genet 40:78-82. 2008
    ..The results indicate that loss-of-function alterations in CTRC predispose to pancreatitis by diminishing its protective trypsin-degrading activity...