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infantile ibd

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https://www.readbyqxmd.com/read/29140941/phenotype-and-management-of-infantile-onset-inflammatory-bowel-disease-experience-from-a-tertiary-care-center-in-china
#1
Ziqing Ye, Ying Zhou, Ying Huang, Yuhuan Wang, Junping Lu, Zifei Tang, Shijian Miao, Kuiran Dong, Zhinong Jiang
BACKGROUND: Infantile-onset inflammatory bowel disease (IBD) comprises rare and clinically severe disorders. We examined the phenotypes and genetic causes of patients with infantile-onset IBD from a tertiary medical center. METHODS: We enrolled 38 patients with infantile-onset IBD and applied standardized treatment with medical, surgical, and supportive care. Targeted sequencing and whole-exome sequencing were performed. Clinical data were retrieved from medical records...
December 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29023267/enhanced-th17-responses-in-patients-with-il10-receptor-deficiency-and-infantile-onset-ibd
#2
Dror S Shouval, Liza Konnikova, Alexandra E Griffith, Sarah M Wall, Amlan Biswas, Lael Werner, Moran Nunberg, Jochen Kammermeier, Jeremy A Goettel, Rajsavi Anand, Hannah Chen, Batia Weiss, Jian Li, Anthony Loizides, Baruch Yerushalmi, Tadahiro Yanagi, Rita Beier, Laurie S Conklin, Christen L Ebens, Fernanda G M S Santos, Mary Sherlock, Jeffery D Goldsmith, Daniel Kotlarz, Sarah C Glover, Neil Shah, Athos Bousvaros, Holm H Uhlig, Aleixo M Muise, Christoph Klein, Scott B Snapper
BACKGROUND: IL10 receptor (IL10R) deficiency causes severe infantile-onset inflammatory bowel disease. Intact IL10R-dependent signals have been shown to be important for innate and adaptive immune cell functions in mice. We have previously reported a key role of IL10 in the generation and function of human anti-inflammatory macrophages. Independent of innate immune cell defects, the aim of the current study was to determine the role of IL10R signaling in regulating human CD4 T-cell function...
November 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28864178/very-early-onset-inflammatory-bowel-disease-investigation-of-the-il-10-signaling-pathway-in-iranian-children
#3
Shahram Nemati, Shahram Teimourian, Mina Tabrizi, Mehri Najafi, Naghi Dara, Farid Imanzadeh, Mitra Ahmadi, Maryam Kazemi Aghdam, Mohmoud Tavassoli, Pejman Rohani, Seyyed Ramin Madani, Martin de Boer, T W Kuijpers, Dirk Roos
BACKGROUND & AIM: Comparing to adult inflammatory bowel disease (IBD), those with early onset manifestations have different features in terms of the underlying molecular pathology, the course of disease and the response to therapy. We investigated the IL-10 signaling pathway previously reported as an important cause of infantile (Very Early Onset) IBD to find any possible variants. METHOD: With the next generation sequencing technique we screened IL-10, IL-10RA and IL10RB genes of 15 children affected by very early onset-GI (gastrointestinal) disorders...
August 30, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28728256/-single-center-retrospective-study-of-184-children-with-inflammatory-bowel-disease-seen-from-2000-2014
#4
D X Guan, F H Yu, G L Wang, J Zhou, D Y Wang, X L Nie, X W Xu
Objective: To investigate the clinical data of children with inflammatory bowel disease (IBD) retrospectively, including Crohn's disease (CD) and ulcerative colitis (UC) and identify the clinical characteristics and trends of change. Method: Clinical data of hospitalized patients diagnosed as IBD in Beijing Children's Hospital from January 2000 to December 2014 were collected and retrospectively analyzed. Patients were divided into six groups based on type of disease and year of admission: Group A1(CD, 2000-2004) included 12 patients, Group B1(CD, 2005-2009) included 11, Group C1(CD, 2010-2014) included 51; Group A2(UC, 2000-2004) included 17, Group B2(UC, 2005-2009) included 25, Group C2(UC, 2010-2014) included 68...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28644354/development-and-function-of-immune-cells-in-an-adolescent-patient-with-a-deficiency-in-the-interleukin-10-receptor
#5
Sharon Veenbergen, Marieke A van Leeuwen, Gertjan J Driessen, Rogier Kersseboom, Lilian F de Ruiter, Rolien H C Raatgeep, Dicky J Lindenbergh-Kortleve, Ytje Simons-Oosterhuis, Katharina Biermann, Dicky J J Halley, Lissy de Ridder, Johanna C Escher, Janneke N Samsom
OBJECTIVE: Monogenic defects in the interleukin-10 (IL-10) pathway are extremely rare and cause infantile-onset inflammatory bowel disease (IBD)-like pathology. Understanding how immune responses are dysregulated in monogenic IBD-like diseases can provide valuable insight in "classical" IBD pathogenesis. Here, we studied long-term immune cell development and function in an adolescent IL-10 receptor (IL10RA)-deficient patient who presented in infancy with severe colitis and fistulizing perianal disease and is currently treated with immune suppressants...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28638582/an-overview-of-inflammatory-bowel-disease-general-consideration-and-genetic-screening-approach-in-diagnosis-of-early-onset-subsets
#6
REVIEW
Shahram Nemati, Shahram Teimourian
Inflammatory bowel disease (IBD) is the consequence of an aberrant hemostasis of the immune cells at the gut mucosal border. Based on clinical manifestation, laboratory tests, radiological studies, endoscopic and histological features, this disease is divided into three main types including Crohn's disease (CD), Ulcerative colitis (UC), and IBDunclassified (IBD-U). IBD is frequently presented in adults, but about 20% of IBD cases are diagnosed during childhood called pediatric IBD (PIBD). Some patients in the latter group emerge the first symptoms during infancy or under 5 years of age named infantile and very early onset IBD (VEO-IBD), respectively...
April 2017: Middle East Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28597964/interleukin-10-receptor-mutation-presenting-with-severe-nappy-ulceration-and-infantile-inflammatory-bowel-disease
#7
B S McDonald, S Narayanan, M Elawad, F Kiparissi, T Cullup, K Batta
Inflammatory bowel disease (IBD) can be divided into Crohn disease, ulcerative colitis and inflammatory bowel disease unclassified (IBDU). In most patients, these disorders present in adolescence or early adulthood. Patients with infantile IBD can have an associated underlying immunodeficiency disorder caused by a mutation in interleukin (IL)-10 or its receptor. We describe a child presenting with intractable bloody diarrhoea since 2 weeks of age and with severe nappy ulceration, who was ultimately diagnosed as having inflammatory bowel disease (IBD) due to an immunodeficiency in the IL-10 receptor...
June 9, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28333324/novel-de-novo-mutations-of-the-interleukin-10-receptor-gene-lead-to-infantile-onset-inflammatory-bowel-disease-a-correction
#8
Kaleemuddin Mohammed, Noor Ahmad Shaik, Fahad Ahmed Al-Abbasi
No abstract text is available yet for this article.
October 27, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28302725/ankyrin-repeat-and-zinc-finger-domain-containing-1-mutations-are-associated-with-infantile-onset-inflammatory-bowel-disease
#9
Désirée Y van Haaften-Visser, Magdalena Harakalova, Enric Mocholi, Joris M van Montfrans, Abdul Elkadri, Ester Rieter, Karoline Fiedler, Peter M van Hasselt, Emily M M Triffaux, Mieke M van Haelst, Isaac J Nijman, Wigard P Kloosterman, Edward E S Nieuwenhuis, Aleixo M Muise, Edwin Cuppen, Roderick H J Houwen, Paul J Coffer
Infantile-onset inflammatory bowel disease (IO IBD) is an invalidating illness with an onset before 2 years of age and has a complex pathophysiology in which genetic factors are important. Homozygosity mapping and whole-exome sequencing in an IO IBD patient and subsequent sequencing of the candidate gene in 12 additional IO IBD patients revealed two patients with two mutated ankyrin repeat and zinc-finger domain-containing 1 (ANKZF1) alleles (homozygous ANKZF1 R585Q mutation and compound heterozygous ANKZF1 E152K and V32_Q87del mutations, respectively) and two patients with one mutated ANKZF1 allele...
May 12, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28299599/incidence-of-typically-severe-primary-immunodeficiency-diseases-in-consanguineous-and-non-consanguineous-populations
#10
Arnon Broides, Amit Nahum, Amarilla B Mandola, Lihi Rozner, Vered Pinsk, Galina Ling, Baruch Yerushalmi, Jacov Levy, Noga Givon-Lavi
PURPOSE: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. METHODS: A retrospective analysis of all typically severe primary immunodeficiency diseases evaluated at a single center from January 1, 1996 to December 31, 2016...
April 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28277336/development-and-function-of-immune-cells-in-an-adolescent-patient-with-a-deficiency-in-the-interleukin-10-receptor
#11
Sharon Veenbergen, Marieke A van Leeuwen, Gertjan J J Driessen, Rogier Kersseboom, Lilian F de Ruiter, Rolien H C Raatgeep, Dicky J Lindenbergh-Kortleve, Ytje Simons-Oosterhuis, Katharina Biermann, Dicky J J Halley, Lissy de Ridder, Johanna C Escher, Janneke N Samsom
OBJECTIVE: Monogenic defects in the interleukin-10 (IL-10) pathway are extremely rare and cause infantile-onset inflammatory bowel disease (IBD)-like pathology. Understanding how immune responses are dysregulated in monogenic IBD-like diseases can provide valuable insight in "classical" IBD pathogenesis. Here, we studied long-term immune cell development and function in an adolescent IL-10 receptor (IL10RA)-deficient patient who presented in infancy with severe colitis and fistulizing perianal disease and is currently treated with immune suppressants...
March 8, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28197149/treatment-of-infantile-inflammatory-bowel-disease-and-autoimmunity-by-allogeneic-stem-cell-transplantation-in-lps-responsive-beige-like-anchor-deficiency
#12
Shahrzad Bakhtiar, Laura Gámez-Díaz, Andrea Jarisch, Jan Soerensen, Bodo Grimbacher, Bernd Belohradsky, Klaus-Michael Keller, Christoph Rietschel, Thomas Klingebiel, Sibylle Koletzko, Michael H Albert, Peter Bader
Inflammatory bowel disease (IBD) in young children can be a clinical manifestation of various primary immunodeficiency syndromes. Poor clinical outcome is associated with poor quality of life and high morbidity from the complications of prolonged immunosuppressive treatment and malabsorption. In 2012, mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) gene were identified as the cause of an autoimmunity and immunodeficiency syndrome. Since then, several LRBA-deficient patients have been reported with a broad spectrum of clinical manifestations without reliable predictive prognostic markers...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28172704/dop082-enhanced-th17-responses-in-patients-with-il10-receptor-deficiency-and-history-of-infantile-onset-ibd
#13
D Shouval, L Konnikova, L Werner, M Nunberg, B Weiss, S Glover, S Snapper
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28147358/hematopoietic-stem-cell-transplantation-in-crohn-s-disease-state-of-the-art-treatment
#14
REVIEW
C J Hawkey
Both autologous and allogeneic haemopoietic stem cell transplantation (HSCT) have been tried in Crohn's disease (CD). In allogeneic HSCT, the host bone marrow is ablated and replaced by bone marrow from a donor. This substitution of a genetically different bone marrow is effective in a number of conditions including those with an immunological basis such as CD. While the toxicity of allogeneic HSCT has precluded its uptake in idiopathic CD, there is interest in its utility in the management of early onset infantile (inflammatory bowel disease), which behaves as a monogenic disorder, with abnormalities of the interleukin 10 signalling system as the best recognized...
2017: Digestive Diseases
https://www.readbyqxmd.com/read/27983950/elucidating-the-role-of-the-il-10-receptor-in-mucosal-inflammation-uncovers-a-potential-treatment-for-infantile-inflammatory-bowel-disease
#15
EDITORIAL
Phillip D Smith, Charles O Elson
No abstract text is available yet for this article.
October 27, 2016: Gastroenterology
https://www.readbyqxmd.com/read/27336593/large-b-cell-lymphoma-in-an-adolescent-patient-with-interleukin-10-receptor-deficiency-and-history-of-infantile-inflammatory-bowel-disease
#16
Dror S Shouval, Christen L Ebens, Ryan Murchie, Katelyn McCann, Raja Rabah, Christoph Klein, Aleixo M Muise, Scott B Snapper
No abstract text is available yet for this article.
July 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27104817/clinical-pattern-of-early-onset-inflammatory-bowel-disease-in-saudi-arabia-a-multicenter-national-study
#17
Abdulrahman Al-Hussaini, Mohammad El Mouzan, Mohammed Hasosah, Ali Al-Mehaidib, Khalid ALSaleem, Omar I Saadah, Mohammed Al-Edreesi
BACKGROUND: The objectives of this multicenter national study were to compare the clinical phenotype of early-onset inflammatory bowel disease (IBD) (EO-IBD) with IBD in older children and to examine whether there is any variability in consanguinity rate and familial aggregation in EO-IBD compared with later onset IBD. METHODS: A retrospective analysis was performed on children aged 0 to 14 years with IBD in 17 centers located in geographically distinct regions in Saudi Arabia, from 2003 to 2012...
August 2016: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/27017024/medical-comorbidities-in-pediatric-headache
#18
REVIEW
Howard Jacobs, Samata Singhi, Jack Gladstein
Comorbid conditions frequently occur in pediatric headaches and may significantly affect their management. Comorbidities that have been associated with pediatric headaches include attention-deficit or hyperactivity disorder, autism, developmental disabilities, depression, anxiety, epilepsy, obesity, infantile colic, atopic disorders, inflammatory bowel disease, and irritable bowel syndrome. The goal of this article is to review these comorbidities associated with pediatric headache, thereby empowering child neurologists to identify common triggers and tailor management strategies that address headache and its comorbidities...
February 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/26945392/identifying-mutations-of-the-tetratricopeptide-repeat-domain-37-ttc37-gene-in-infants-with-intractable-diarrhea-and-a-comparison-of-asian-and-non-asian-phenotype-and-genotype-a-global-case-report-study-of-a-well-defined-syndrome-with-immunodeficiency
#19
COMPARATIVE STUDY
Wen-I Lee, Jing-Long Huang, Chien-Chang Chen, Ju-Li Lin, Ren-Chin Wu, Tang-Her Jaing, Liang-Shiou Ou
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs decay. The phenotype and immune profiles of SD/THE overlap those of primary immunodeficiency diseases (PIDs). Neonates with intractable diarrhea underwent immunologic assessments including immunoglobulin levels, lymphocyte subsets, lymphocyte proliferation, superoxide production, and IL-10 signaling function...
March 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/26849723/o-005%C3%A2-yi%C3%A2-microbiota-drives-inflammation-by-altering-intestinal-lamina-propria-macrophage-phenotype-in-a-novel-il10r-deficient-model-of-very-early-onset-ibd
#20
Naresh Redhu, Dror Shouval, Vasudevan Bakthavatchalu, Chuanwu Wang, Evan Conaway, Jeremy Goettel, Matthias Mack, Andre Bleich, Lynn Bry, James Fox, Scott Snapper, Bruce Horwitz
BACKGROUND: Rare mutations in IL-10 or its receptors (IL10R) lead to severe very early onset (VEO)/infantile IBD in humans suggesting that the IL10/IL10R pathway is indispensable for mucosal immune homeostasis in the developing gut. Mice deficient in IL10/IL10R also develop spontaneous colitis. We recently reported that IL10R signaling in macrophages is critical for mucosal homeostasis in adult mice and humans (Shouval et al, Immunity 2014). However, the identification of IL10-dependent regulatory mechanisms in infants remains elusive...
March 2016: Inflammatory Bowel Diseases
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