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1. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Author

UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de gastro-entérologie, Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M, Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K, Barakat, Farah, Auth, Marcus K H, Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P, Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C, Gilmour, Kimberly C, Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A, Fulga, Tudor A, Carrami, Eli M, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C, Elkadri, Abdul, Griffiths, Anne M, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Snapper, Scott B, Shah, Neil, Muise, Aleixo M, Wilson, David C, Uhlig, Holm H, Anderson, Carl A, Marot, Astrid, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de gastro-entérologie, Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M, Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K, Barakat, Farah, Auth, Marcus K H, Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P, Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C, Gilmour, Kimberly C, Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A, Fulga, Tudor A, Carrami, Eli M, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C, Elkadri, Abdul, Griffiths, Anne M, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Snapper, Scott B, Shah, Neil, Muise, Aleixo M, Wilson, David C, Uhlig, Holm H, Anderson, Carl A, and Marot, Astrid

Published
2022

2. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Author

UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de gastro-entérologie, Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M, Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K, Barakat, Farah, Auth, Marcus K H, Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P, Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C, Gilmour, Kimberly C, Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A, Fulga, Tudor A, Karaminejadranjbar, Mohammad, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C, Elkadri, Abdul, Griffiths, Anne M, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Snapper, Scott B, Shah, Neil, Muise, Aleixo M, Wilson, David C, Uhlig, Holm H, Anderson, Carl A, Marot, Astrid, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de gastro-entérologie, Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M, Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K, Barakat, Farah, Auth, Marcus K H, Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P, Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C, Gilmour, Kimberly C, Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A, Fulga, Tudor A, Karaminejadranjbar, Mohammad, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C, Elkadri, Abdul, Griffiths, Anne M, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Snapper, Scott B, Shah, Neil, Muise, Aleixo M, Wilson, David C, Uhlig, Holm H, Anderson, Carl A, and Marot, Astrid

Abstract

Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis.

Published
2020

3. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

Author

Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., Coffer, Paul J., Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., and Coffer, Paul J.

Published
2017

4. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

Author

Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., Coffer, Paul J., Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., and Coffer, Paul J.

Published
2017

5. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

Author

Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., Coffer, Paul J., Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., and Coffer, Paul J.

Published
2017

6. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

Author

Stoma/continentiezorg, MDL onderzoek 1, Child Health, Onderzoek Precision medicine, Cancer, CMM Groep Coffer, Infection & Immunity, Immuno/reuma patientenzorg, Metabole ziekten patientenzorg, Cluster C, CTI Vastert, Genetica Klinische Genetica, Genetica Medische Informatica, CMM Groep Kloosterman, Zorg en O&O, Regenerative Medicine and Stem Cells, CMM Groep Cuppen, Circulatory Health, Brain, MDL patientenzorg, Immunologie onderzoek 2, CMM Sectie Stem Cells, Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., Coffer, Paul J., Stoma/continentiezorg, MDL onderzoek 1, Child Health, Onderzoek Precision medicine, Cancer, CMM Groep Coffer, Infection & Immunity, Immuno/reuma patientenzorg, Metabole ziekten patientenzorg, Cluster C, CTI Vastert, Genetica Klinische Genetica, Genetica Medische Informatica, CMM Groep Kloosterman, Zorg en O&O, Regenerative Medicine and Stem Cells, CMM Groep Cuppen, Circulatory Health, Brain, MDL patientenzorg, Immunologie onderzoek 2, CMM Sectie Stem Cells, Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., and Coffer, Paul J.

Published
2017

7. Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Author

Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H, Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, and Uhlig, Holm H

Abstract

OBJECTIVE: Patients with Niemann-Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with IBD, but neither the significance nor the functional mechanism of this association is clear. We studied bacterial handling and antibacterial autophagy in patients with NPC1. DESIGN: We characterised intestinal inflammation in 14 patients with NPC1 who developed IBD. We investigated bacterial handling and cytokine production of NPC1 monocytes or macrophages in vitro and compared NPC1-associated functional defects to those caused by IBD-associated nucleotide-binding oligomerization domain-containing protein 2 (NOD2) variants or mutations in X-linked inhibitor of apoptosis (XIAP). RESULTS: Patients with the lysosomal lipid storage disorder NPC1 have increased susceptibility to early-onset fistulising colitis with granuloma formation, reminiscent of Crohn's disease (CD). Mutations in NPC1 cause impaired autophagy due to defective autophagosome function that abolishes NOD2-mediated bacterial handling in vitro similar to variants in NOD2 or XIAP deficiency. In contrast to genetic NOD2 and XIAP variants, NPC1 mutations do not impair NOD2-receptor-interacting kinase 2 (RIPK2)-XIAP-dependent cytokine production. Pharmacological activation of autophagy can rescue bacterial clearance in macrophages in vitro by increasing the autophagic flux and bypassing defects in NPC1. CONCLUSIONS: NPC1 confers increased risk of early-onset severe CD. Our data support the concept that genetic defects at different checkpoints of selective autophagy cause a shared outcome of CD-like immunopathology linking monogenic and polygenic forms of IBD. Muramyl dipeptide-driven cytokine responses and antibacterial autophagy induction are parallel and independent signalling cascades downstream of the NOD2-RIPK2-XIAP complex.

Published
2017

8. Learned Helplessness, an exploratory study in underachieving adolescents

Author

Elkadri, Hasna and Elkadri, Hasna

Abstract

The purpose of this study is to explore Learned Helplessness in underachieving adolescent students in a private school in Sharjah. This study investigates fundamental aspects of Learned Helplessness such as its relationship with underachievement, its symptoms, and support strategies. Data collection was done through document analysis, a self – report questionnaire and semi – structured interviews to elicit the viewpoints of participant students, teachers and supervisors on Learned Helplessness in underachieving students. The main findings of the study such as inefficacy, apathy, poor study strategies and lack of support were consistent with the theory and literature on Learned Helplessness. The research emphasizes the need for spreading awareness among educators for the purpose of early detection and effective intervention.

Published
2016

9. Learned Helplessness, an exploratory study in underachieving adolescents

Author

Elkadri, Hasna and Elkadri, Hasna

Abstract

The purpose of this study is to explore Learned Helplessness in underachieving adolescent students in a private school in Sharjah. This study investigates fundamental aspects of Learned Helplessness such as its relationship with underachievement, its symptoms, and support strategies. Data collection was done through document analysis, a self – report questionnaire and semi – structured interviews to elicit the viewpoints of participant students, teachers and supervisors on Learned Helplessness in underachieving students. The main findings of the study such as inefficacy, apathy, poor study strategies and lack of support were consistent with the theory and literature on Learned Helplessness. The research emphasizes the need for spreading awareness among educators for the purpose of early detection and effective intervention.

Published
2016

11. Assessment of reliability and validity of IBD phenotyping within the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK) IBD Genetics Consortium (IBDGC).

Author

Dassopoulos, T, Nguyen, Geoffrey C, Bitton, A, Bromfield, G P, Schumm, L Philip, Wu, Yahong, Elkadri, Abdul, Regueiro, Miguel, Siemanowski, Benjamin, Torres, Esther A, Gregory, Federico J, Kane, Sunanda V, Harrell, Laura E, Franchimont, Denis, Achkar, Jean-Paul, Griffiths, Anne, Brant, S R, Rioux, J D, Taylor, Kent D, Duerr, R H, Silverberg, M S, Cho, Judy H, Steinhart, A H, Dassopoulos, T, Nguyen, Geoffrey C, Bitton, A, Bromfield, G P, Schumm, L Philip, Wu, Yahong, Elkadri, Abdul, Regueiro, Miguel, Siemanowski, Benjamin, Torres, Esther A, Gregory, Federico J, Kane, Sunanda V, Harrell, Laura E, Franchimont, Denis, Achkar, Jean-Paul, Griffiths, Anne, Brant, S R, Rioux, J D, Taylor, Kent D, Duerr, R H, Silverberg, M S, Cho, Judy H, and Steinhart, A H

Abstract

BACKGROUND: The NIDDK IBD Genetics Consortium (IBDGC) collects DNA and phenotypic data from inflammatory bowel disease (IBD) subjects to provide a resource for genetic studies. No previous studies have been performed on the reliability and validity of phenotypic determinations in either Crohn's disease (CD) or ulcerative colitis (UC) using primary records. Our aim was to determine the reliability and validity of these phenotypic assessments. METHODS: The de-identified records of 30 IBD patients were reviewed by 2 phenotypers per center using a standard protocol for phenotypic assessment. Each phenotyper evaluated 10 charts on 2 occasions 5 months apart. Reliability was expressed as the kappa (kappa) statistic. Performance characteristics were determined by comparison to a consensus-derived "gold standard" and by generation of receiver operating characteristic (ROC) curves. RESULTS: Agreement for diagnosis was excellent (kappa = 0.82; 95% confidence interval [CI]: 0.71-0.92). Agreement for CD location was good for jejunal, ileal, colorectal, and perianal disease with kappa between 0.60 and 0.74 but was fair for esophagogastroduodenal (kappa = 0.36). Agreement for UC extent (kappa = 0.67; 95% CI: 0.48-0.85), and CD behavior (kappa = 0.67; 95% CI: 0.49-0.83) were very good. Area under the ROC curves was greater than 0.84 for diagnosis, CD behavior, UC extent, and ileal and colonic CD location. CONCLUSIONS: IBD phenotype classification using a standard protocol exhibited very good to excellent inter- and intrarater agreement and validity. This study highlights the importance of standard protocols in generating reliable and valid phenotypic assessments. The data will facilitate estimates of phenotyping misclassification rates that should be considered when making inferences from IBD genotype-phenotype studies., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Published
2007

12. Assessment of reliability and validity of IBD phenotyping within the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK) IBD Genetics Consortium (IBDGC).

Author

Dassopoulos, T, Nguyen, Geoffrey C, Bitton, A, Bromfield, G P, Schumm, L Philip, Wu, Yahong, Elkadri, Abdul, Regueiro, Miguel, Siemanowski, Benjamin, Torres, Esther A, Gregory, Federico J, Kane, Sunanda V, Harrell, Laura E, Franchimont, Denis, Achkar, Jean-Paul, Griffiths, Anne, Brant, S R, Rioux, J D, Taylor, Kent D, Duerr, R H, Silverberg, M S, Cho, Judy H, Steinhart, A H, Dassopoulos, T, Nguyen, Geoffrey C, Bitton, A, Bromfield, G P, Schumm, L Philip, Wu, Yahong, Elkadri, Abdul, Regueiro, Miguel, Siemanowski, Benjamin, Torres, Esther A, Gregory, Federico J, Kane, Sunanda V, Harrell, Laura E, Franchimont, Denis, Achkar, Jean-Paul, Griffiths, Anne, Brant, S R, Rioux, J D, Taylor, Kent D, Duerr, R H, Silverberg, M S, Cho, Judy H, and Steinhart, A H

Abstract

BACKGROUND: The NIDDK IBD Genetics Consortium (IBDGC) collects DNA and phenotypic data from inflammatory bowel disease (IBD) subjects to provide a resource for genetic studies. No previous studies have been performed on the reliability and validity of phenotypic determinations in either Crohn's disease (CD) or ulcerative colitis (UC) using primary records. Our aim was to determine the reliability and validity of these phenotypic assessments. METHODS: The de-identified records of 30 IBD patients were reviewed by 2 phenotypers per center using a standard protocol for phenotypic assessment. Each phenotyper evaluated 10 charts on 2 occasions 5 months apart. Reliability was expressed as the kappa (kappa) statistic. Performance characteristics were determined by comparison to a consensus-derived "gold standard" and by generation of receiver operating characteristic (ROC) curves. RESULTS: Agreement for diagnosis was excellent (kappa = 0.82; 95% confidence interval [CI]: 0.71-0.92). Agreement for CD location was good for jejunal, ileal, colorectal, and perianal disease with kappa between 0.60 and 0.74 but was fair for esophagogastroduodenal (kappa = 0.36). Agreement for UC extent (kappa = 0.67; 95% CI: 0.48-0.85), and CD behavior (kappa = 0.67; 95% CI: 0.49-0.83) were very good. Area under the ROC curves was greater than 0.84 for diagnosis, CD behavior, UC extent, and ileal and colonic CD location. CONCLUSIONS: IBD phenotype classification using a standard protocol exhibited very good to excellent inter- and intrarater agreement and validity. This study highlights the importance of standard protocols in generating reliable and valid phenotypic assessments. The data will facilitate estimates of phenotyping misclassification rates that should be considered when making inferences from IBD genotype-phenotype studies., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Published
2007

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