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infantile ibd

Kaleemuddin Mohammed, Noor Ahmad Shaik, Fahad Ahmed Al-Abbasi
No abstract text is available yet for this article.
March 15, 2017: Journal of Crohn's & Colitis
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 two 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 twelve 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...
March 16, 2017: Journal of Biological Chemistry
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...
March 16, 2017: Journal of Clinical Immunology
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
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
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
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
Phillip D Smith, Charles O Elson
No abstract text is available yet for this article.
October 27, 2016: Gastroenterology
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...
January 28, 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
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