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https://www.readbyqxmd.com/read/29892152/neonatal-presentation-of-unremitting-inflammatory-bowel-disease
#1
Sara Ebrahimi, Gholamreza Khademi, Seyed Ali Jafari, Nona Zaboli Nejad, Abdolreza Norouzy, Bahareh Imani
Very-early-onset inflammatory bowel disease (VEO-IBD) has a distinct phenotype and should be considered a specific entity. VEO-IBD presents with very severe clinical pictures and is frequently known by an indeterminate colitis whose clinical remission is unmanageable. This study examines the case of a neonate with VEO-IBD, not responding to medical and surgical treatment. A 7-day-old Iranian female neonate presented with severe bloody diarrhea, poor feeding, abdominal distention, and dehydration suggesting severe proctocolitis due to an allergy to the protein in cow's milk...
May 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29788237/diagnostic-yield-of-next-generation-sequencing-in-very-early-onset-inflammatory-bowel-diseases-a-multicenter-study
#2
Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, Julie Bruneau, Cécile Fourrage, Olivier Alibeu, Frédéric Rieux-Laucat, Eva Lévy, Marie-Claude Stolzenberg, Fabienne Mazerolles, Sylvain Latour, Christelle Lenoir, Alain Fischer, Capucine Picard, Marina Aloi, Jorge Amil Dias, Mongi Ben Hariz, Anne Bourrier, Christian Breuer, Anne Breton, Jiri Bronski, Stephan Buderus, Mara Cananzi, Stéphanie Coopman, Clara Crémilleux, Alain Dabadie, Clémentine Dumant-Forest, Odul Egritas Gurkan, Alexandre Fabre, Aude Fischer, Marta German Diaz, Yago Gonzalez-Lama, Olivier Goulet, Graziella Guariso, Neslihan Gurcan, Matjaz Homan, Jean-Pierre Hugot, Eric Jeziorski, Evi Karanika, Alain Lachaux, Peter Lewindon, Rosa Lima, Fernando Magro, Janos Major, Georgia Malamut, Emmanuel Mas, Istvan Mattyus, Luisa M Mearin, Jan Melek, Victor Manuel Navas-Lopez, Anders Paerregaard, Cecile Pelatan, Bénédicte Pigneur, Isabel Pinto Pais, Julie Rebeuh, Claudio Romano, Nadia Siala, Caterina Strisciuglio, Michela Tempia-Caliera, Patrick Tounian, Dan Turner, Vaidotas Urbonas, Stéphanie Willot, Frank M Ruemmele, Nadine Cerf-Bensussan
Background and Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases (VEO-IBD). The present study aimed at defining how next-generation sequencing (NGS) methods can be used to improve identification of known molecular diagnosis and adapt treatment. Methods: 207 children were recruited in 45 Paediatric centres through an international collaborative network (ESPGHAN GENIUS working group) with a clinical presentation of severe VEO-IBD (n=185) or an anamnesis suggestive of a monogenic disorder (n=22)...
May 18, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29764567/-features-and-management-of-very-early-onset-inflammatory-bowel-disease
#3
Jie-Yu You
Inflammatory bowel disease (IBD) is a chronic nonspecific intestinal inflammatory disease of unknown etiology. This disease includes three main types: Crohn′s disease (CD), ulcerative colitis (UC), and IBD-unclassified (IBD-U). IBD is frequently presented in adults, but in recent years, there is a rising incidence in pediatric populations. Very early onset IBD (VEO-IBD) is a fraction of pediatric IBD, but they have exclusive phenotypic and genetic characteristics such that they are accompanied by severe disease course and resistance to conventional therapy...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29531467/phenotypic-and-genotypic-characterization-of-inflammatory-bowel-disease-in-children-under-six-years-of-age-in-china
#4
You-Hong Fang, You-You Luo, Jin-Dan Yu, Jin-Gan Lou, Jie Chen
AIM: To analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD phenotypically and genotypically via genetic testing. METHODS: A retrospective analysis of children aged 0 to 6 years diagnosed with VEO-IBD in a tertiary hospital in southern China from 2005 to 2017 was performed. Clinical data for VEO-IBD patients were collected, and genetic characteristics were analyzed using whole exome sequencing or target gene panel sequencing...
March 7, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29321166/fetal-and-early-life-antibiotics-exposure-and-very-early-onset-inflammatory-bowel-disease-a-population-based-study
#5
Anne K Örtqvist, Cecilia Lundholm, Jonas Halfvarson, Jonas F Ludvigsson, Catarina Almqvist
OBJECTIVE: Earlier studies on antibiotics exposure and development of IBD (Crohn's disease (CD) and ulcerative colitis (UC)) may have been biased by familial factors and gastroenteritis. We aimed to estimate the association between antibiotics during pregnancy or infantile age and very early onset (VEO) IBD. DESIGN: In this cohort study of 827 239 children born in Sweden between 2006 and 2013, we examined the link between exposure to systemic antibiotics and VEO-IBD (diagnosis <6 years of age), using Cox proportional hazard regression models...
January 10, 2018: Gut
https://www.readbyqxmd.com/read/29174094/missense-mutation-of-ttc7a-mimicking-tricho-hepato-enteric-sd-the-syndrome-in-a-patient-with-very-early-onset-inflammatory-bowel-disease
#6
João Farela Neves, Isabel Afonso, Luis Borrego, Catarina Martins, Ana Isabel Cordeiro, Conceição Neves, Caroline Lacoste, Catherine Badens, Alexandre Fabre
Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities...
April 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29126503/very-early-onset-inflammatory-bowel-disease
#7
Christopher J Moran
Very early onset inflammatory bowel disease (VEO-IBD) represents a unique and growing subset of patients with inflammatory bowel disease (IBD). Some VEO-IBD patients present with immunodeficiency and possess loss of function genetic mutations involving immune pathways that cause their IBD. A search for Mendelian causes of IBD is likely most beneficial when the presentation involves extra-intestinal autoimmunity or involves intestinal histopathology that is atypical for IBD. While a subset of these young patients will have highly aggressive courses (and likely present with immunodeficiency), the majority of patients with VEO-IBD appear to have disease courses similar to that of their older counterparts...
December 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28700415/the-role-of-monogenic-disease-in-children-with-very-early-onset-inflammatory-bowel-disease
#8
REVIEW
Judith R Kelsen, Robert N Baldassano
PURPOSE OF REVIEW: Inflammatory bowel disease (IBD) is a multifactorial disease caused by dysregulated immune responses to commensal or pathogenic intestinal microbes, resulting in chronic intestinal inflammation. Patients diagnosed with IBD occurring before the age of 5 are a unique population, known as very early onset (VEO)-IBD and can be phenotypically and genetically distinct from older-onset IBD. We aim to review the clinical presentation of children with VEO-IBD and recent discoveries that point to genomic drivers of disease that may impact our therapeutic decisions...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28638582/an-overview-of-inflammatory-bowel-disease-general-consideration-and-genetic-screening-approach-in-diagnosis-of-early-onset-subsets
#9
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/28551707/nutritional-therapy-in-very-early-onset-inflammatory-bowel-disease-a-case-report
#10
Talya L Miller, Dale Lee, Mathew Giefer, Ghassan Wahbeh, David L Suskind
Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract caused by a dysregulated immune response to the fecal microbiota. Very early-onset inflammatory bowel disease (VEO-IBD) refers to a subgroup of pediatric patients with IBD diagnosed before 6 years of age. This subgroup is often characterized by increased severity, aggressive progression, strong family history of IBD, and often poor response to conventional treatments. Nutritional therapies have been utilized to treat IBD, but their role in VEO-IBD is unclear...
August 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28496525/il-10-and-il-10-receptor-mutations-in-very-early-onset-inflammatory-bowel-disease
#11
REVIEW
Lei Zhu, Tingting Shi, Chengdi Zhong, Yingde Wang, Michael Chang, Xiuli Liu
Very early onset inflammatory bowel disease (VEO-IBD) is a unique disease entity with a complex genetic susceptibility in affected patients. Next-generation gene sequencing techniques have revealed various monogenetic mutations contributing to the pathogenesis of VEO-IBD, including interleukin 10 (IL-10) and IL-10 receptor (IL-10R) mutations. In this article, we reviewed the features of and effective therapeutic options for VEO-IBD with IL-10 and/or IL-10R mutations. The IL-10 signal pathway inhibits the release of several key cytokines and thereby has a significant anti-inflammatory effect in the gastrointestinal tract...
April 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28453757/incidence-and-phenotype-at-diagnosis-of-very-early-onset-compared-with-later-onset-paediatric-inflammatory-bowel-disease-a-population-based-study-1988-2011
#12
COMPARATIVE STUDY
E Bequet, H Sarter, M Fumery, F Vasseur, L Armengol-Debeir, B Pariente, D Ley, C Spyckerelle, H Coevoet, J E Laberenne, L Peyrin-Biroulet, G Savoye, D Turck, C Gower-Rousseau
Background and Aims: Very-early-onset inflammatory bowel disease [VEO-IBD] is a form of IBD that is distinct from that of children with an older onset. We compared changes over time in the incidence and phenotype at diagnosis between two groups according to age at IBD diagnosis: VEO-IBD diagnosed before the age of 6 years, and early-onset IBD [EO-IBD] diagnosed between 6 and 16 years of age. Methods: Data were obtained from a cohort enrolled in a prospective French population-based registry from 1988 to 2011...
May 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28404814/nucleotide-binding-oligomerization-domain-nod-signaling-defects-and-cell-death-susceptibility-cannot-be-uncoupled-in-x-linked-inhibitor-of-apoptosis-xiap-driven-inflammatory-disease
#13
Steven M Chirieleison, Rebecca A Marsh, Prathna Kumar, Joseph K Rathkey, George R Dubyak, Derek W Abbott
The X-linked inhibitor of apoptosis (XIAP) protein has been identified as a key genetic driver of two distinct inflammatory disorders, X-linked lymphoproliferative syndrome 2 (XLP-2) and very-early-onset inflammatory bowel disease (VEO-IBD). Molecularly, the role of XIAP mutations in the pathogenesis of these disorders is unclear. Recent work has consistently shown XIAP to be critical for signaling downstream of the Crohn's disease susceptibility protein nucleotide-binding oligomerization domain-containing 2 (NOD2); however, the reported effects of XLP-2 and VEO-IBD XIAP mutations on cell death have been inconsistent...
June 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28267048/commentary-on-mutations-in-interleukin-10-receptor-and-clinical-phenotypes-in-patients-with-very-early-onset-inflammatory-bowel-disease-a-chinese-veo-ibd-collaboration-group-survey
#14
COMMENT
Judith R Kelsen, Noor Dawany, Maire Conrad, Marcella Devoto
No abstract text is available yet for this article.
April 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28267044/mutations-in-interleukin-10-receptor-and-clinical-phenotypes-in-patients-with-very-early-onset-inflammatory-bowel-disease-a-chinese-veo-ibd-collaboration-group-survey
#15
Zhiheng Huang, Kaiyue Peng, Xiaoqin Li, Ruiqin Zhao, Jieyu You, Xiuyong Cheng, Zhaoxia Wang, Ying Wang, Bingbing Wu, Huijun Wang, Huasong Zeng, Zhuowen Yu, Cuifang Zheng, Yuesheng Wang, Ying Huang
BACKGROUND: Interleukin-10 (IL10) signaling plays an important role in the pathogenesis of very early onset inflammatory bowel disease (VEO-IBD) in children. However, little is known about the role of the IL10 axis in children with VEO-IBD in China. METHODS: The Chinese VEO-IBD Collaboration Group was created to collect clinical and genetic data from patients deficient in IL10 and the IL10 receptor. High-throughput sequencing was performed to identify mutations in these genes...
April 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28125549/o-001-a-diagnostic-approach-of-immune-dysregulation-on-very-early-onset-ibd
#16
Judith Kelsen, Noor Dawany, Maire Conrad, Kathleen Sullivan, Edward Behrens, Marcella Devoto
BACKGROUND: Immune deficiencies have been associated with inflammatory bowel disease (IBD), and are reported to be particularly enriched in patients with very early-onset IBD (VEO-IBD). However, the actual frequency of primary immune deficiencies in an unselected cohort of patients with VEO-IBD is not known, nor is the optimal screening approach for this population. This study was undertaken to identify a diagnostic approach that will enhance identification of children with primary immune deficiencies who present with VEO-IBD...
February 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/27799271/incidence-and-phenotype-at-diagnosis-of-very-early-onset-compared-with-later-onset-paediatric-inflammatory-bowel-disease-a-population-based-study-1988-2011
#17
E Bequet, H Sarter, M Fumery, F Vasseur, L Armengol-Debeir, B Pariente, D Ley, C Spyckerelle, H Coevoet, J E Laberenne, L Peyrin-Biroulet, G Savoye, D Turck, C Gower-Rousseau
BACKGROUND AND AIMS: Very-early-onset inflammatory bowel disease [VEO-IBD] is a form of IBD that is distinct from that of children with an older onset. We compared changes over time in the incidence and phenotype at diagnosis between two groups according to age at IBD diagnosis: VEO-IBD diagnosed before the age of 6 years, and early-onset IBD [EO-IBD] diagnosed between 6 and 16 years of age. METHODS: Data were obtained from a cohort enrolled in a prospective French population-based registry from 1988 to 2011...
October 31, 2016: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/27350736/comprehensive-mutation-screening-for-10-genes-in-chinese-patients-suffering-very-early-onset-inflammatory-bowel-disease
#18
Yuan Xiao, Xin-Qiong Wang, Yi Yu, Yan Guo, Xu Xu, Ling Gong, Tong Zhou, Xiao-Qin Li, Chun-Di Xu
AIM: To perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients. METHODS: A total of 13 Chinese pediatric patients with VEO-IBD were diagnosed from May 2012 and August 2014. The relevant clinical characteristics of these patients were analyzed. Then DNA in the peripheral blood from patients was extracted. Next generation sequencing (NGS) based on an Illumina-Miseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10RA, IL-10RB, NOD2, FUT2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30...
June 28, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/26849720/o-003%C3%A2-understanding-the-relevance-of-whole-exome-sequencing-identified-variants-in-patients-with-very-early-onset-ibd
#19
Judith Kelsen, Noor Dawany, Maire Conrad, Alejuandro Martinez, Petar Mamula, David Piccoli, David Artis, Gregory Sonnenberg, Robert Baldassano, Kathleen Sullivan, Marcella Devoto
BACKGROUND: Very early onset inflammatory bowel disease (VEO-IBD) is frequently considered a different disease process than older onset IBD. The severe phenotype and young age of onset suggest a more pronounced genetic susceptibility and dysregulated immune response. We hypothesized that rare or novel variants involving pathways in barrier defense, autoimmunity as well as both B and T cell development and activation, were enriched in patients with VEO-IBD. In turn, these variants result in altered gene expression, impaired immunological responses, and aberrant host-microbe interactions...
March 2016: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/26581487/a-de-novo-whole-gene-deletion-of-xiap-detected-by-exome-sequencing-analysis-in-very-early-onset-inflammatory-bowel-disease-a-case-report
#20
Judith R Kelsen, Noor Dawany, Alejandro Martinez, Alejuandro Martinez, Christopher M Grochowski, Kelly Maurer, Eric Rappaport, David A Piccoli, Robert N Baldassano, Petar Mamula, Kathleen E Sullivan, Marcella Devoto
BACKGROUND: Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play a more prominent role in this young population, and monogenic defects in genes related to primary immunodeficiencies are responsible for the disease in a small subset of patients with VEO-IBD...
November 18, 2015: BMC Gastroenterology
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