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very early onset inflammatory bowel disease

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https://www.readbyqxmd.com/read/29126503/very-early-onset-inflammatory-bowel-disease
#1
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/29091079/nox1-loss-of-function-genetic-variants-in-patients-with-inflammatory-bowel-disease
#2
T Schwerd, R V Bryant, S Pandey, M Capitani, L Meran, J-B Cazier, J Jung, K Mondal, M Parkes, C G Mathew, K Fiedler, D J McCarthy, P B Sullivan, A Rodrigues, S P L Travis, C Moore, J Sambrook, W H Ouwehand, D J Roberts, J Danesh, R K Russell, D C Wilson, J R Kelsen, R Cornall, L A Denson, S Kugathasan, U G Knaus, E G Serra, C A Anderson, R H Duerr, D Pb McGovern, J Cho, F Powrie, V Sw Li, A M Muise, H H Uhlig
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1 was identified in a patient with ulcerative colitis-like VEOIBD. Exome screening of 1,878 pediatric patients identified further seven male inflammatory bowel disease (IBD) patients with rare NOX1 mutations. Loss-of-function was validated in p.N122H and p.T497A, and to a lesser degree in p...
November 1, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/29027576/neonatal-ulcerative-colitis-associated-with-familial-mediterranean-fever-a-case-report
#3
Elif Sag, Ferhat Demir, Mustafa Emre Ercin, Mukaddes Kalyoncu, Murat Cakir
Neonatal inflammatory bowel disease (IBD) is a subclass of very early onset IBD that includes children younger than 1 month. It is characterized by more colonic involvement and monogenetic etiology, resistance to classical anti-inflammatory/immunomodulatory treatments and associated with colitis in first-degree family members. Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination. She was diagnosed with neonatal ulcerative colitis (UC) based on clinical, laboratory and histopathological examination...
October 13, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29023266/novel-zbtb24-mutation-associated-with-immunodeficiency-centromere-instability-and-facial-anomalies-type-2-syndrome-identified-in-a-patient-with-very-early-onset-inflammatory-bowel-disease
#4
Máire A Conrad, Noor Dawany, Kathleen E Sullivan, Marcella Devoto, Judith R Kelsen
BACKGROUND: Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies. METHODS: In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate the child's constellation of symptoms and examination findings...
December 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28936210/novel-mutations-of-the-tetratricopeptide-repeat-domain-7a-gene-and-phenotype-genotype-comparison
#5
Reyin Lien, Yung-Feng Lin, Min-Wei Lai, Hui-Ying Weng, Ren-Chin Wu, Tang-Her Jaing, Jing-Long Huang, Shih-Feng Tsai, Wen-I Lee
The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28864178/very-early-onset-inflammatory-bowel-disease-investigation-of-the-il-10-signaling-pathway-in-iranian-children
#6
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/28817385/novel-molecular-defects-associated-with-very-early-onset-inflammatory-bowel
#7
Sara Ciullini Mannurita, Eleonora Gambineri
PURPOSE OF REVIEW: Immune dysregulation disorders present with common clinical features of multiorgan autoimmunity. Gastrointestinal involvement is the hallmark of an impaired immune homeostasis. This review will give an overview on the novel phenotypes, highlighting the major points that will help to enable early diagnosis and treatment. RECENT FINDINGS: The rapid progress on DNA sequencing technologies have led to the identification of monogenic defects that adversely impact the control of immune homeostasis...
October 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28728256/-single-center-retrospective-study-of-184-children-with-inflammatory-bowel-disease-seen-from-2000-2014
#8
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/28718031/newcomers-in-paediatric-gi-pathology-childhood-enteropathies-including-very-early-onset-monogenic-ibd
#9
Arzu Ensari, Judith Kelsen, Pierre Russo
Childhood enteropathies are a group of diseases causing severe chronic (>2-3 weeks) diarrhoea often starting in the first week of life with the potential for fatal complications for the affected infant. Early identification and accurate classification of childhood enteropathies are, therefore, crucial for making treatment decisions to prevent life-threatening complications. Childhood enteropathies are classified into four groups based on the underlying pathology: (i) conditions related to defective digestion, absorption and transport of nutrients and electrolytes; (ii) disorders related to enterocyte differentiation and polarization; (iii) defects of enteroendocrine cell differentiation; and (iv) disorders associated with defective modulation of intestinal immune response...
July 17, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28700415/the-role-of-monogenic-disease-in-children-with-very-early-onset-inflammatory-bowel-disease
#10
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/28678006/macrophage-dysfunction-initiates-colitis-during-weaning-of-infant-mice-lacking-the-interleukin-10-receptor
#11
Naresh S Redhu, Vasudevan Bakthavatchalu, Evan A Conaway, Dror S Shouval, Amy Tsou, Jeremy A Goettel, Amlan Biswas, Chuanwu Wang, Michael Field, Werner Muller, Andre Bleich, Ning Li, Georg K Gerber, Lynn Bry, James G Fox, Scott B Snapper, Bruce H Horwitz
Infants with defects in the interleukin 10 receptor (IL10R) develop very early onset inflammatory bowel disease. Whether IL10R regulates lamina propria macrophage function during infant development in mice and whether macrophage-intrinsic IL10R signaling is required to prevent colitis in infancy is unknown. Here we show that although signs of colitis are absent in IL10R-deficient mice during the first two weeks of life, intestinal inflammation and macrophage dysfunction begin during the third week of life, concomitant with weaning and accompanying diversification of the intestinal microbiota...
July 5, 2017: ELife
https://www.readbyqxmd.com/read/28638582/an-overview-of-inflammatory-bowel-disease-general-consideration-and-genetic-screening-approach-in-diagnosis-of-early-onset-subsets
#12
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/28609775/vancomycin-in-very-early-onset-inflammatory-bowel-disease-dysbiosis-fight-fire-with-fire
#13
Luc Biedermann
No abstract text is available yet for this article.
2017: Digestion
https://www.readbyqxmd.com/read/28564649/oral-vancomycin-and-gentamicin-for-treatment-of-very-early-onset-inflammatory-bowel-disease
#14
Raffi Lev-Tzion, Oren Ledder, Eyal Shteyer, Michelle Li Nien Tan, Holm H Uhlig, Dan Turner
BACKGROUND: The pathogenesis of inflammatory bowel disease (IBD) is complex and involves the contribution of genetic and environmental factors. Many patients with very early onset IBD are difficult to treat. The current antibiotic medication that targets gram-negative and anaerobic bacteria provides only moderate efficacy in subsets of patients with IBD. METHODS: We report a case series of 5 children with a mean age of 1.6 years (range 6 months to 2.7 years) during IBD onset, who were previously refractory to standard treatments and who received oral vancomycin with or without gentamicin...
2017: Digestion
https://www.readbyqxmd.com/read/28551707/nutritional-therapy-in-very-early-onset-inflammatory-bowel-disease-a-case-report
#15
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
#16
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
#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...
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
#18
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/28404137/genetics-of-inflammatory-bowel-disease-beyond-nod2
#19
REVIEW
Maša Umićević Mirkov, Bram Verstockt, Isabelle Cleynen
The study of the genetic underpinnings of inflammatory bowel disease has made great progress since the identification of NOD2 as a major susceptibility gene. Novel genotyping and sequencing technologies have led to the discovery of 242 common susceptibility loci, 45 of which have been fine-mapped to statistically conclusive causal variants; 50 genes associated with very-early-onset inflammatory disease have been identified. The evolving genetic architecture of inflammatory bowel disease has deepened our understanding of its pathogenesis through identification of major disease associated pathways-knowledge that has the potential to indicate novel drug targets or markers for personalised medicine...
March 2017: Lancet. Gastroenterology & Hepatology
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
#20
Judith R Kelsen, Noor Dawany, Maire Conrad, Marcella Devoto
No abstract text is available yet for this article.
April 2017: Inflammatory Bowel Diseases
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