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2. Multiple common variants for celiac disease influencing immune gene expression

Author

Dubois, Patrick CA, Trynka, Gosia, Franke, Lude, Hunt, Karen A, Romanos, Jihane, Curtotti, Alessandra, Zhernakova, Alexandra, Heap, Graham AR, Ádány, Róza, Aromaa, Arpo, Bardella, Maria Teresa, van den Berg, Leonard H, Bockett, Nicholas A, de la Concha, Emilio G, Dema, Bárbara, Fehrmann, Rudolf SN, Fernández-Arquero, Miguel, Fiatal, Szilvia, Grandone, Elvira, Green, Peter M, Groen, Harry JM, Gwilliam, Rhian, Houwen, Roderick HJ, Hunt, Sarah E, Kaukinen, Katri, Kelleher, Dermot, Korponay-Szabo, Ilma, Kurppa, Kalle, MacMathuna, Padraic, Mäki, Markku, Mazzilli, Maria Cristina, McCann, Owen T, Mearin, M Luisa, Mein, Charles A, Mirza, Muddassar M, Mistry, Vanisha, Mora, Barbara, Morley, Katherine I, Mulder, Chris J, Murray, Joseph A, Núñez, Concepción, Oosterom, Elvira, Ophoff, Roel A, Polanco, Isabel, Peltonen, Leena, Platteel, Mathieu, Rybak, Anna, Salomaa, Veikko, Schweizer, Joachim J, Sperandeo, Maria Pia, Tack, Greetje J, Turner, Graham, Veldink, Jan H, Verbeek, Wieke HM, Weersma, Rinse K, Wolters, Victorien M, Urcelay, Elena, Cukrowska, Bozena, Greco, Luigi, Neuhausen, Susan L, McManus, Ross, Barisani, Donatella, Deloukas, Panos, Barrett, Jeffrey C, Saavalainen, Paivi, Wijmenga, Cisca, and van Heel, David A

Subjects
Biotechnology, Human Genome, Genetics, Digestive Diseases, 2.1 Biological and endogenous factors, Aetiology, Case-Control Studies, Celiac Disease, Gene Expression, Gene Expression Profiling, Genes, MHC Class I, Genome-Wide Association Study, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection. There was evidence to suggest associations for a further 13 regions. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P < 0.0028, FDR 5%) with cis gene expression.

Published
2010

4. The Incidence and Characteristics of Venous Thromboembolisms in Paediatric-Onset Inflammatory Bowel Disease:A Prospective International Cohort Study Based on the PIBD-SETQuality Safety Registry

Author

Aardoom, Martine A., Klomberg, Renz C.W., Kemos, Polychronis, Ruemmele, Frank M., Fagbemi, Andrew, Kiparissi, Fevronia, Schweizer, Joachim J., Sebastian, Shaji, Russell, Richard, Torrente, Franco, Van Mill, Marije, De Ridder, Lissy, Croft, Nicholas, Tempia-Caliera, Michela, Lee, Way Seah, Pigott, Anna J., Classen, Martin, Morris, Mary Anne, Muhammed, Rafeeq, Hussey, Seamus, Cananzi, Mara, Menz, Timothy J., Wahbeh, Ghassan T., Van Ommen, C. H.Heleen, Turner, Dan, Focht, Gili, Samsom, Janneke, Veereman, Gigi, Neyt, Mattias, Koletzko, Sibylle, Brückner, Annecarin, Levine, Arie, Weiner, Dror, Griffiths, Anne, Aloi, Marina, Raes, Jeroen, Christiaens, Annick, Walters, Thomas, Walker, Michael, Ruemelle, Frank, Demange, Christine Nguyen, Bigot, Laetitia, Aardoom, Martine A., Klomberg, Renz C.W., Kemos, Polychronis, Ruemmele, Frank M., Fagbemi, Andrew, Kiparissi, Fevronia, Schweizer, Joachim J., Sebastian, Shaji, Russell, Richard, Torrente, Franco, Van Mill, Marije, De Ridder, Lissy, Croft, Nicholas, Tempia-Caliera, Michela, Lee, Way Seah, Pigott, Anna J., Classen, Martin, Morris, Mary Anne, Muhammed, Rafeeq, Hussey, Seamus, Cananzi, Mara, Menz, Timothy J., Wahbeh, Ghassan T., Van Ommen, C. H.Heleen, Turner, Dan, Focht, Gili, Samsom, Janneke, Veereman, Gigi, Neyt, Mattias, Koletzko, Sibylle, Brückner, Annecarin, Levine, Arie, Weiner, Dror, Griffiths, Anne, Aloi, Marina, Raes, Jeroen, Christiaens, Annick, Walters, Thomas, Walker, Michael, Ruemelle, Frank, Demange, Christine Nguyen, and Bigot, Laetitia

Abstract

Background and Aims: Guidelines regarding thromboprophylaxis for venous thromboembolisms [VTEs] in children with inflammatory bowel disease [IBD] are based on limited paediatric evidence. We aimed to prospectively assess the incidence of VTEs in paediatric-onset IBD [PIBD], characterize PIBD patients with a VTE and identify potential IBD-related risk factors. Methods: From October 2016 to September 2020, paediatric gastroenterologists prospectively replied to the international Safety Registry, monthly indicating whether they had observed a VTE case in a patient <19 years with IBD. IBD details [type, Paris classification, clinical and biochemical disease activity, treatment] and VTE details [type, location, treatment, outcome] were collected. To estimate VTE incidence, participants annually reported the number of PIBD patients, data source and catchment area of their centre. A systematic literature review and meta-analysis was performed to calculate the VTE incidence in the general paediatric population. Results: Participation of 129 PIBD centres resulted in coverage of 24 802 PIBD patients. Twenty cases of VTE were identified [30% Crohn's disease]. The incidence of VTEs was 3.72 (95% confidence interval [CI] 2.27-5.74) per 10 000 person-years, 14-fold higher than in the general paediatric population (0.27 [95% CI 0.18-0.38], p < 0.001). Cerebral sinus venous thrombosis was most frequently reported [50%]. All but one patient had active IBD, 45% were using steroids and 45% were hospitalized. No patient received thromboprophylaxis, whereas according to current PIBD guidelines, this was recommended in 4/20 patients. Conclusion: There is an increased risk of VTEs in the PIBD population compared to the general paediatric population. Awareness of VTE occurrence and prevention should be extended to all PIBD patients with active disease, especially those hospitalized.

Published
2022

5. The Incidence and Characteristics of Venous Thromboembolisms in Paediatric-Onset Inflammatory Bowel Disease: A Prospective International Cohort Study Based on the PIBD-SETQuality Safety Registry

Author

Aardoom, Martine A., Klomberg, Renz C.W., Kemos, Polychronis, Ruemmele, Frank M., Fagbemi, Andrew, Kiparissi, Fevronia, Schweizer, Joachim J., Sebastian, Shaji, Russell, Richard, Torrente, Franco, Van Mill, Marije, De Ridder, Lissy, Croft, Nicholas, Tempia-Caliera, Michela, Lee, Way Seah, Pigott, Anna J., Classen, Martin, Morris, Mary Anne, Muhammed, Rafeeq, Hussey, Seamus, Cananzi, Mara, Menz, Timothy J., Wahbeh, Ghassan T., Van Ommen, C. H.Heleen, Turner, Dan, Focht, Gili, Samsom, Janneke, Veereman, Gigi, Neyt, Mattias, Koletzko, Sibylle, Brückner, Annecarin, Levine, Arie, Weiner, Dror, Griffiths, Anne, Aloi, Marina, Raes, Jeroen, Christiaens, Annick, Walters, Thomas, Walker, Michael, Ruemelle, Frank, Demange, Christine Nguyen, Bigot, Laetitia, and Pediatrics

Subjects
Pediatrics, medicine.medical_specialty, Population, Disease, Inflammatory bowel disease, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Prospective Studies, Registries, education, Child, Venous Thrombosis, education.field_of_study, Crohn's disease, business.industry, Incidence (epidemiology), Incidence, Gastroenterology, Anticoagulants, General Medicine, Venous Thromboembolism, medicine.disease, Inflammatory Bowel Diseases, Ulcerative colitis, 3. Good health, 030220 oncology & carcinogenesis, 030211 gastroenterology & hepatology, Complication, business, Cohort study
Abstract

Background and Aims Guidelines regarding thromboprophylaxis for venous thromboembolisms [VTEs] in children with inflammatory bowel disease [IBD] are based on limited paediatric evidence. We aimed to prospectively assess the incidence of VTEs in paediatric-onset IBD [PIBD], characterize PIBD patients with a VTE and identify potential IBD-related risk factors. Methods From October 2016 to September 2020, paediatric gastroenterologists prospectively replied to the international Safety Registry, monthly indicating whether they had observed a VTE case in a patient Results Participation of 129 PIBD centres resulted in coverage of 24 802 PIBD patients. Twenty cases of VTE were identified [30% Crohn’s disease]. The incidence of VTEs was 3.72 (95% confidence interval [CI] 2.27–5.74) per 10 000 person-years, 14-fold higher than in the general paediatric population (0.27 [95% CI 0.18–0.38], p < 0.001). Cerebral sinus venous thrombosis was most frequently reported [50%]. All but one patient had active IBD, 45% were using steroids and 45% were hospitalized. No patient received thromboprophylaxis, whereas according to current PIBD guidelines, this was recommended in 4/20 patients. Conclusion There is an increased risk of VTEs in the PIBD population compared to the general paediatric population. Awareness of VTE occurrence and prevention should be extended to all PIBD patients with active disease, especially those hospitalized.

Published
2021

8. Is mid-upper arm circumference in Dutch children useful in identifying obesity?

Author

Talma, Henk, Van Dommelen, Paula, Schweizer, Joachim J., Bakker, Boudewijn, Kist-Van Holthe, Joana E., Chinapaw, J. Mai M., Hirasing, Remy A., Talma, Henk, Van Dommelen, Paula, Schweizer, Joachim J., Bakker, Boudewijn, Kist-Van Holthe, Joana E., Chinapaw, J. Mai M., and Hirasing, Remy A.

Published
2019

9. Is mid-upper arm circumference in Dutch children useful in identifying obesity?

Author

Endocrinologie patientenzorg, Talma, Henk, Van Dommelen, Paula, Schweizer, Joachim J., Bakker, Boudewijn, Kist-Van Holthe, Joana E., Chinapaw, J. Mai M., Hirasing, Remy A., Endocrinologie patientenzorg, Talma, Henk, Van Dommelen, Paula, Schweizer, Joachim J., Bakker, Boudewijn, Kist-Van Holthe, Joana E., Chinapaw, J. Mai M., and Hirasing, Remy A.

Published
2019

16. European multi-centre study on coeliac disease and non-Hodgkin lymphoma.

Author

Luisa Mearin, M, Catassi, Carlo, Brousse, Nicole, Brand, Ronald, Collin, Pekka, Fabiani, Elisabetta, Schweizer, Joachim J., Abuzakouk, Mohamed, Szajewska, Hania, Hallert, Claes, Farré Masip, Carme, Holmes, Geoffrey K.T., Luisa Mearin, M, Catassi, Carlo, Brousse, Nicole, Brand, Ronald, Collin, Pekka, Fabiani, Elisabetta, Schweizer, Joachim J., Abuzakouk, Mohamed, Szajewska, Hania, Hallert, Claes, Farré Masip, Carme, and Holmes, Geoffrey K.T.

Abstract

Introduction: Coeliac disease (CD) is associated with an increased risk of non-Hodgkin lymphoma (NHL), but there is little information about whether this is true for clinically silent CD. Objective: To investigate the frequency of CD in two European populations; one with NHL and another derived from the general population. Methods: A prospective, multi-centre, case-control study in 10 European countries was conducted between May 1998 and April 2001. A total of 1446 consecutive patients with newly diagnosed NHLaged over 18 years was collected. The control group consisted of a population of 9676 individuals who were screened for CD. The number of patients with a previous diagnosis of CD and those with silent CD detected by screening were determined in the two groups. Results: The patients with CD had a significantly increased risk of developing NHL [odds ratio (OR) 2.6, 95% confidence interval (CI) 1.4-4.9]. This risk was only present in patients with CD diagnosed clinically before the study (OR 3.3, 95% CI 1.4-7.9), but not in those with silent CD detected by screening (OR 1.3, 95% CI 0.6-2.7). Conclusion: Patients with CD have an increased risk of developing NHL, although this is lower than previously thought. Clinically silent CD is rare in patients with NHL.

Published
2006

18. Erratum: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression

Author

Dubois, Patrick C A, primary, Trynka, Gosia, additional, Franke, Lude, additional, Hunt, Karen A, additional, Romanos, Jihane, additional, Curtotti, Alessandra, additional, Zhernakova, Alexandra, additional, Heap, Graham A R, additional, Ádány, Róza, additional, Aromaa, Arpo, additional, Bardella, Maria Teresa, additional, van den Berg, Leonard H, additional, Bockett, Nicholas A, additional, de la Concha, Emilio G, additional, Dema, Bárbara, additional, Fehrmann, Rudolf S N, additional, Fernández-Arquero, Miguel, additional, Fiatal, Szilvia, additional, Grandone, Elvira, additional, Green, Peter M, additional, Groen, Harry J M, additional, Gwilliam, Rhian, additional, Houwen, Roderick H J, additional, Hunt, Sarah E, additional, Kaukinen, Katri, additional, Kelleher, Dermot, additional, Korponay-Szabo, Ilma, additional, Kurppa, Kalle, additional, MacMathuna, Padraic, additional, Mäki, Markku, additional, Mazzilli, Maria Cristina, additional, McCann, Owen T, additional, Mearin, M Luisa, additional, Mein, Charles A, additional, Mirza, Muddassar M, additional, Mistry, Vanisha, additional, Mora, Barbara, additional, Morley, Katherine I, additional, Mulder, Chris J, additional, Murray, Joseph A, additional, Núñez, Concepción, additional, Oosterom, Elvira, additional, Ophoff, Roel A, additional, Polanco, Isabel, additional, Peltonen, Leena, additional, Platteel, Mathieu, additional, Rybak, Anna, additional, Salomaa, Veikko, additional, Schweizer, Joachim J, additional, Sperandeo, Maria Pia, additional, Tack, Greetje J, additional, Turner, Graham, additional, Veldink, Jan H, additional, Verbeek, Wieke H M, additional, Weersma, Rinse K, additional, Wolters, Victorien M, additional, Urcelay, Elena, additional, Cukrowska, Bozena, additional, Greco, Luigi, additional, Neuhausen, Susan L, additional, McManus, Ross, additional, Barisani, Donatella, additional, Deloukas, Panos, additional, Barrett, Jeffrey C, additional, Saavalainen, Paivi, additional, Wijmenga, Cisca, additional, and van Heel, David A, additional

Published
2010
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21. Infliximab dependency in pediatric Crohnʼs disease: Long-term follow-up of an unselected cohort

Author

de Ridder, Lissy, primary, Rings, Edmond H.H.M., additional, Damen, Gerard M., additional, Kneepkens, Frank C.M., additional, Schweizer, Joachim J., additional, Kokke, Freddy T.M., additional, Benninga, Marc A., additional, Norbruis, Obbe F., additional, Hoekstra, Hans J., additional, Gijsbers, Carolien F.M., additional, and Escher, Johanna C., additional

Published
2008
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24. European multi-centre study on coeliac disease and non-Hodgkin lymphoma

Author

Luisa Mearin, M., primary, Catassi, Carlo, additional, Brousse, Nicole, additional, Brand, Ronald, additional, Collin, Pekka, additional, Fabiani, Elisabetta, additional, Schweizer, Joachim J., additional, Abuzakouk, Mohamed, additional, Szajewska, Hania, additional, Hallert, Claes, additional, Farr?? Masip, Carme, additional, and Holmes, Geoffrey K.T., additional

Published
2006
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25. Infliximab Therapy in 30 Patients With Refractory Pediatric Crohn Disease With and Without Fistulas in The Netherlands

Author

de Ridder, Lissy, primary, Escher, Johanna C., additional, Bouquet, Jan, additional, Schweizer, Joachim J., additional, Rings, Edmond H. H. M., additional, Tolboom, Jules J. M., additional, Houwen, Roderick H. J., additional, Norbruis, Obbe F., additional, Derkx, Bert H. F., additional, and Taminiau, Jan A. J. M., additional

Published
2004
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27. European multi-centre study on coeliac disease and non-Hodgkin lymphoma.

Author

Mearin ML, Catassi C, Brousse N, Brand R, Collin P, Fabiani E, Schweizer JJ, Abuzakouk M, Szajewska H, Hallert C, Farré Masip C, Holmes GK, Biomed Study Group on Coeliac Disease and Non-Hodgkin Lymphoma, Mearin, M Luisa, Catassi, Carlo, Brousse, Nicole, Brand, Ronald, Collin, Pekka, Fabiani, Elisabetta, and Schweizer, Joachim J

Published
2006
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28. Infliximab Therapy in 30 Patients With Refractory Pediatric Crohn Disease With and Without Fistulas in The Netherlands

Author

Ridder, Lissy, Escher, Johanna C., Bouquet, Jan, Schweizer, Joachim J., Rings, Edmond H. H. M., Tolboom, Jules J. M., Houwen, Roderick H. J., Norbruis, Obbe F., Derkx, Bert H. F., and Taminiau, Jan A. J. M.

Abstract

The purpose of this study was to describe the clinical experience with the anti–tumor necrosis factor chimeric monoclonal antibody, infliximab, in pediatric patients with Crohn disease in The Netherlands. Descriptive. Clinical response and adverse effects of infliximab were recorded for pediatric patients with Crohn disease treated from October 1992 to January 2003. Thirty patients (aged 7–18 years) with refractory Crohn disease (with or without severe fistulas) were treated with infliximab. Patients were treated with up to 30 infusions. Mean follow-up was 25.3 months. A total of 212 infusions were administered. Thirteen patients had refractory Crohn disease without fistulas. Six patients showed good long-term response to infliximab treatment (defined as clinical index =10 points). Sixteen patients had refractory Crohn disease with draining fistulas. Nine showed good long-term response (closure or nonproductiveness of fistulas). One patient with metastatic Crohn disease in the skin had a good long-term response. Six patients developed an allergic reaction during infusion. In one patient, the allergic reaction occurred after an infliximab-free interval of 9 years. One patient died of sepsis. Infliximab was an effective therapy in 53% of patients with refractory pediatric Crohn disease, with or without fistulas. Approximately half of the patients become unresponsive to infliximab therapy. Randomized controlled studies are mandatory to assess long-term efficacy and safety to define the optimal therapeutic strategy of infliximab therapy in children with Crohn disease.

Published
2004
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29. Is mid-upper arm circumference in Dutch children useful in identifying obesity?

Author

Talma H, van Dommelen P, Schweizer JJ, Bakker B, Kist-van Holthe JE, Chinapaw JMM, and Hirasing RA

Subjects
Adolescent, Body Mass Index, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Linear Models, Male, Netherlands, Sensitivity and Specificity, Anthropometry, Arm anatomy & histology, Overweight diagnosis, Pediatric Obesity diagnosis
Abstract

Background: Mid-upper arm circumference (MUAC) is suggested as being a valid measure in detecting overweight/obesity in children and adolescents, due to the strong relation with weight. We examined this relation and compared MUAC to body mass index (BMI) according to the International Obesity Task Force (IOTF) in children., Methods: Anthropometric data including MUAC were collected in 2009 by trained healthcare professionals in the context of the fifth Dutch Nationwide Growth Study, in a sample of 6167 children (2891 boys and 3276 girls) aged 2-18 years of Dutch origin. We propose MUAC SDS cut-off values for overweight and obesity, and compared MUAC with BMI IOTF in sex-specific and age-specific categories (2-5, 6-11, 12-18 years)., Results: The area under the curve is used as a measure of diagnostic accuracy; the explained variance (R²) is good to excellent (0.88-0.94). Sensitivity ranges from 51.8% to 95.3% and specificity from 71.4% to 93.8%. Across age and gender groups, 65.1% to 89.0% participants are classified by both MUAC and BMI as normal weight, overweight or obese. We constructed three equations to predict weight using MUAC, with small differences between observed and predicted weight with an explained variance ranging from 0.88 to 0.94., Conclusions: Compared with BMI, MUAC is a valid measure for detecting overweight and obesity and thus a good alternative for BMI. When weight has to be estimated, it can be accurately predicted using MUAC. Based on our observations, we recommend developing diagrams with international (IOTF) cut-offs for MUAC SDS similar to BMI., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2019
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30. [A progressive vomiting pre-schooler].

Author

Tomlow B and Schweizer JJ

Subjects
Child, Preschool, Esophageal Stenosis diagnostic imaging, Esophageal Stenosis surgery, Gastritis diagnosis, Gastritis etiology, Gastritis surgery, Humans, Male, Radiography, Treatment Outcome, Vomiting diagnosis, Esophageal Stenosis complications, Vomiting etiology
Abstract

A 4-year-old boy with persistent vomiting had a peptic stenosis of the oesophagus.

Published
2010

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