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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
Johana Eyzaguirre-Velásquez, Loreto Olavarría-Ramírez, Camila González-Arancibia, Camila Díaz-Merino, Raúl Ariz, Silvana López, Waldo Quiroz, Caroll J Beltrán, Javier A Bravo, Marcela Julio-Pieper
Protein malnutrition can lead to morphological and functional changes in jejunum and ileum, affecting permeability to luminal contents. Regarding the large intestine, data is scarce, especially at juvenile age. We investigated whether low-protein (LP) diet could modify ileal and colonic permeability and epithelial morphology in young rats.Isocaloric diets containing 26% (control diet) or 4% protein were given to male rats between postnatal days 40-60. LP-diet animals failed to gain weight and displayed decreased plasma Zinc levels (a marker of micronutrient deficiency)...
June 24, 2016: Journal of Pediatric Gastroenterology and Nutrition
Teresa Capriati, Sabrina Cardile, Bronislava Papadatou, Claudio Romano, Daniela Knafelz, Fiammetta Bracci, Antonella Diamanti
INTRODUCTION: The incidence of inflammatory bowel disease (IBD) has increased over the last 50 years. It is now recognized that several genetic defects can express an IBD-like phenotype at very early onset (<6 years). AREAS COVERED: The aim of this review was to update knowledge concerning the specificity of IBD at onset <6 years, which can include conventional/standard IBD as well as monogenic IBD-like diseases. Expert commentary: We found that females are less prone than males to develop monogenic disorders, which have X-linked heritability in several cases...
September 2016: Expert Review of Clinical Immunology
Phillip Minar, Shehzad A Saeed, Mahrukh Afreen, Mi-Ok Kim, Lee A Denson
OBJECTIVES: Therapeutic drug monitoring (TDM) that guides infliximab (IFX) intensification strategies has been shown to improve IFX efficacy. We conducted a review to evaluate the utility of TDM in the assessment and subsequent management of IFX loss of response in our pediatric population with Crohn disease (CD). METHODS: Single-center retrospective study of patients with CD receiving IFX that had TDM from December 2009 to September 2013. We defined subtherapeutic trough as a drug level below the detection limit of the Prometheus enzyme-linked immunoabsorbant assay and Anser reference values (1...
May 2016: Journal of Pediatric Gastroenterology and Nutrition
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli, Neil Shah
BACKGROUND: Multiple monogenetic conditions with partially overlapping phenotypes can present with inflammatory bowel disease (IBD)-like intestinal inflammation. With novel genotype-specific therapies emerging, establishing a molecular diagnosis is becoming increasingly important. DESIGN: We have introduced targeted next-generation sequencing (NGS) technology as a prospective screening tool in children with very early onset IBD (VEOIBD). We evaluated the coverage of 40 VEOIBD genes in two separate cohorts undergoing targeted gene panel sequencing (TGPS) (n=25) and whole exome sequencing (WES) (n=20)...
November 2014: Journal of Medical Genetics
Shaoping Wu, Sonia Yoon, Yong-Guo Zhang, Rong Lu, Yinglin Xia, Jiandi Wan, Elaine O Petrof, Erika C Claud, Di Chen, Jun Sun
Low expression of vitamin D receptor (VDR) and dysfunction of vitamin D/VDR signaling are reported in patients with inflammatory bowel disease (IBD); therefore, restoration of VDR function to control inflammation in IBD is desirable. Probiotics have been used in the treatment of IBD. However, the role of probiotics in the modulation of VDR signaling to effectively reduce inflammation is unknown. We identified a novel role of probiotics in activating VDR activity, thus inhibiting inflammation, using cell models and VDR knockout mice...
September 1, 2015: American Journal of Physiology. Gastrointestinal and Liver Physiology
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