Read by QxMD icon Read

infantile ibd

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
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
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
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)
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
Tadahiro Yanagi, Tatsuki Mizuochi, Yugo Takaki, Keisuke Eda, Keiichi Mitsuyama, Masataka Ishimura, Hidetoshi Takada, Dror S Shouval, Alexandra E Griffith, Scott B Snapper, Yushiro Yamashita, Ken Yamamoto
BACKGROUND: Although deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that caused unique splicing aberrations in a Japanese patient with infantile-onset of inflammatory bowel disease in association with immune thrombocytopenic purpura and a transient clinical syndrome mimicking juvenile myelomonocytic leukemia...
2016: BMC Gastroenterology
Christopher J Moran, Christoph Klein, Aleixo M Muise, Scott B Snapper
The pathogenesis of pediatric inflammatory bowel disease (IBD) is only partially understood. Strong evidence implicates a strong genetic component including high monozygotic twin concordance and familial disease phenotype concordance rates. Genome-wide association studies have identified associations between >160 genetic loci and the risk for developing IBD. The roles of implicated genes are largely immune-mediated, although other functions include cellular migration, oxidative stress, and carbohydrate metabolism...
May 2015: Inflammatory Bowel Diseases
Sylvia Cruchet, Raquel Furnes, Aldo Maruy, Eduardo Hebel, Jorge Palacios, Fernando Medina, Nelson Ramirez, Marina Orsi, Lysette Rondon, Vera Sdepanian, Luis Xóchihua, Manuel Ybarra, Roberto Arturo Zablah
OBJECTIVE: The stability and composition of intestinal flora plays a vital role in human wellbeing throughout life from as early as birth. Over the past 50 years, several studies have been conducted to evaluate the effect of probiotic administration in pediatric gastroenterology. This document aims to provide a recommendation score on probiotic utilization in pediatric gastroenterology, together with a review of current knowledge concerning its benefits, tolerability, and safety. STUDY DESIGN: Published literature was selected without study design restriction: clinical guidelines, meta-analyses, randomized controlled trials (RCTs), cohort studies, outcomes research and case-controlled studies were selected using the following MESH-validated terms: probiotics, diarrhea, acute diarrhea, antibiotic-associated diarrhea, traveler's diarrhea, bacterial diarrhea, nosocomial diarrhea, prophylactic diarrhea, Helicobacter pylori infection, colic, infantile colic, necrotizing enterocolitis (NEC), inflammatory bowel disease, constipation, and allergy...
June 2015: Paediatric Drugs
Seak Hee Oh, Kyung Mo Kim
Inflammatory bowel disease (IBD) is a chronic relapsing disorder of unknown etiology, which is believed to be multifactorial. Recently, the incidence of pediatric IBD has steeply increased in Korea since 2000. Poorly controlled disease activity can result in complications such as intestinal fistulae, abscess, and stricture, as well as growth retardation and delayed puberty in children. Because of a lack of confirmative tests, various diagnostic modalities must be used to diagnose IBD. Onset age, location, behavior, and activity are important in selecting treatments...
November 2014: Korean Journal of Pediatrics
Raman Kumar, Mark A Corbett, Nicholas J C Smith, Lachlan A Jolly, Chuan Tan, Damien J Keating, Michael D Duffield, Toshihiko Utsumi, Koko Moriya, Katherine R Smith, Alexander Hoischen, Kim Abbott, Michael G Harbord, Alison G Compton, Joshua A Woenig, Peer Arts, Michael Kwint, Nienke Wieskamp, Sabine Gijsen, Joris A Veltman, Melanie Bahlo, Joseph G Gleeson, Eric Haan, Jozef Gecz
We report siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit. We used homozygosity mapping to identify an ∼12-Mbp interval identical by descent (IBD) between the affected individuals on chromosome 3q13.13-21.1 with an LOD score of 2.31. We combined family-based whole-exome and whole-genome sequencing of parents and affected siblings and, after filtering of likely non-pathogenic variants, identified a unique missense variant in syntaxin-binding protein 5-like (STXBP5L c...
April 1, 2015: Human Molecular Genetics
Saskia van Hemert, Anne C Breedveld, Jörgen M P Rovers, Jan P W Vermeiden, Ben J M Witteman, Marcel G Smits, Nicole M de Roos
Recent studies suggest that migraine may be associated with gastrointestinal (GI) disorders, including irritable bowel syndrome (IBS), inflammatory bowel syndrome, and celiac disease. Here, an overview of the associations between migraine and GI disorders is presented, as well as possible mechanistic links and clinical implications. People who regularly experience GI symptoms have a higher prevalence of headaches, with a stronger association with increasing headache frequency. Children with a mother with a history of migraine are more likely to have infantile colic...
2014: Frontiers in Neurology
Dror S Shouval, Christen L Ebens, Ryan Murchie, Katelyn McCann, Raja Rabah, Christoph Klein, Aleixo Muise, Scott B Snapper
No abstract text is available yet for this article.
August 19, 2014: Journal of Pediatric Gastroenterology and Nutrition
Karin R Engelhardt, Bodo Grimbacher
Inflammatory bowel disease (IBD) represents a heterogeneous group of gastrointestinal disorders, where commensal gut flora provokes an either (a) insufficient or (b) uncontrolled immune response. This results either in a lack of or in excessive inflammation mainly manifesting as Crohn's disease or ulcerative colitis. IBD commonly presents in adolescence and adulthood and often follows a chronic relapsing course. Genetic and/or environmental factors contribute to the failure of gut immune homeostasis. Genome-wide association studies have identified over 160 susceptibility loci associated with IBD, including polymorphisms in interleukin-10 (IL-10)...
2014: Current Topics in Microbiology and Immunology
Jeffrey S Hyams
Similar to adults, there is heterogeneous phenotypic expression of inflammatory bowel disease (IBD) in children. Thus, a classification system for disease characteristics is obligatory if one seeks to understand and eventually change the natural history of IBD. Extrapolation of adult clinical trial results to children also depends upon comparable classifications of disease. Features that can differentiate IBD in children from adults include more extensive and severe disease at presentation, frequent corticosteroid dependency, change in location and behavior over time, and the implications of disease for growth and sexual maturation...
2014: Digestive Diseases
Cheng Hiang Lee, Peter Hsu, Brigitte Nanan, Ralph Nanan, Melanie Wong, Kevin J Gaskin, Rupert W Leong, Ryan Murchie, Aleixo M Muise, Michael O Stormon
BACKGROUND AND AIMS: Defects in the interleukin 10 (IL-10) signalling pathway have been shown to cause very early onset inflammatory bowel disease (IBD). We report a patient with severe infantile-onset IBD with a compound heterozygous IL-10 receptor alpha subunit (IL-10RA) mutation, one of which was paternally-inherited and the other occurring de novo. METHODS: Deep sequencing of IL-10, IL-10RA and IL-10 receptor beta subunit (IL-10RB) were performed. Peripheral blood mononuclear cell (PBMC) surface expression of IL-10RA was analysed by flow cytometry...
November 2014: Journal of Crohn's & Colitis
Jung Ok Shim, Jeong Kee Seo
Infantile periods may have stronger genetic influences. Recently, studies on genetic defects in the interleukin-10 (IL-10) signaling pathway have provided new insights into inflammatory bowel disease (IBD). This study is to reveal whether mutations of IL-10 signaling pathway genes contribute to the phenotypes of IBD. Forty children who were diagnosed with IBD below the age of 10 years were enrolled. We sequenced the genes interleukin-10 receptor A (IL-10RA), IL-10RB and IL-10, and analyzed the clinical characteristics of very early-onset IBD (VEO-IBD)...
June 2014: Journal of Human Genetics
Jae Sung Ko
No abstract text is available yet for this article.
November 2013: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
Darrell L Dinwiddie, Julia M Bracken, Julie A Bass, Kathy Christenson, Sarah E Soden, Carol J Saunders, Neil A Miller, Vivekanand Singh, David L Zwick, Charles C Roberts, Jignesh Dalal, Stephen F Kingsmore
Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and perirectal abscesses refractory to medical management. We examined the variants discovered in all known IBD-associated and primary immunodeficiency genes in both siblings...
November 2013: Genomics
Lee A Denson
Recent translational studies have provided new insights into the pathogenesis of pediatric-onset inflammatory bowel disease. Registry studies have identified distinct clinical phenotypes with increasing age of onset; this has led to a revision of the clinical phenotyping system, now termed the Paris classification system. It is recognized that there are infantile (age, <1 years), very early onset (VEO) (age, 1-10 years), and early onset (age, 10-17 years) forms of disease. Rare genetic mutations affecting antimicrobial and anti-inflammatory pathways have been discovered in infantile and VEO forms, although genetic pathways identified in early onset disease have been similar to adult-onset inflammatory bowel disease...
August 2013: Inflammatory Bowel Diseases
Steven R Brant
Over the past two decades, investigators have used whole genome linkage and genome-wide association studies, including the "Immunochip" study, to identify a surprising number (over 163) of genetic loci containing susceptibility genes for inflammatory bowel disease (IBD) and its 2 major phenotypes, Crohn's disease (CD) and ulcerative colitis (UC). These loci, although nearly all low-risk, have provided important lessons regarding the nature of IBD etiopathogenesis, including that most loci cause both CD and UC risk; one-third of loci have risk for other common autoimmune diseases; numerous loci contain genes that regulate immunity to microbes; Th17 cells are disproportionately influenced by genes within IBD loci; and the HLA region influences UC far greater than CD...
January 2013: Clinical Gastroenterology and Hepatology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"