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https://www.readbyqxmd.com/read/29920646/the-gba-p-trp378gly-mutation-is-a-probable-french-canadian-founder-mutation-causing-gaucher-disease-and-synucleinopathies
#1
J A Ruskey, S Zhou, R Santiago, L-A Franche, A Alam, L Roncière, D Spiegelman, E A Fon, J-F Trempe, L V Kalia, R B Postuma, N Dupre, G-E Rivard, S Assouline, D Amato, Z Gan-Or
Biallelic GBA mutations cause Gaucher disease (GD), and heterozygous carriers are at risk for synucleinopathies. No founder GBA mutations in French-Canadians are known. GBA was fully sequenced using targeted next generation and Sanger sequencing in French-Canadian Parkinson disease (PD) patients (n=436), REM-sleep behavior disorder (RBD) patients (n=189) and controls (n=891). Haplotype, identity by descent (IBD) and principal component analyses (PCA) were performed using SNP-chip data. Data on GD patients from Toronto and Montreal were collected from patients' files...
June 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29771800/left-sided-dominance-of-early-onset-colorectal-cancers-a-rationale-for-screening-flexible-sigmoidoscopy-in-the-young
#2
Lior Segev, Matthew F Kalady, James M Church
BACKGROUND: National databases show a recent significant increase in the incidence of colorectal cancer in people younger than 50. With current recommendations to begin average-risk screening at age 50, these patients do not have the opportunity to be screened. We hypothesized that most of the cancers among the young would be left sided, which would create an opportunity for screening the young by flexible sigmoidoscopy. OBJECTIVE: This study aims to analyze the anatomic distribution of sporadic colorectal cancers in patients under the age of 50...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29741603/phenotype-and-clinical-course-of-inflammatory-bowel-disease-with-co-existent-celiac-disease
#3
Chung Sang Tse, Parakkal Deepak, Jaime De La Fuente, Adam C Bledsoe, Joseph J Larson, Joseph A Murray, Konstantinos A Papadakis
Background and Aims: Inflammatory bowel diseases, principally Crohn's disease and ulcerative colitis, and celiac disease are among the most common immune-mediated gastrointestinal diseases. We aim to elucidate the clinical course and outcomes of patients with concomitant inflammatory bowel disease and celiac disease, a unique population that remains scarcely studied to date. Methods: A retrospective matched case-control study of adults with coexistent inflammatory bowel disease and celiac disease was performed at a tertiary referral institution in North America...
May 7, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29720903/colorectal-cancer-in-inflammatory-bowel-disease
#4
REVIEW
Ryan W Stidham, Peter D R Higgins
Patients with inflammatory bowel disease (IBD) are at significantly increased risk of colorectal cancer (CRC), principally resulting from the pro-neoplastic effects of chronic intestinal inflammation. Epidemiologic studies continue to highlight the increased risk of CRC in IBD. However, the incidence has declined over the past 30 years, attributed to both successful CRC-surveillance programs and improved control of mucosal inflammation. Risk factors that further increase the risk of IBD-related CRC include disease duration, extent and severity, the presence of inflammatory pseudopolyps, coexistent primary sclerosing cholangitis, and a family history of CRC...
May 2018: Clinics in Colon and Rectal Surgery
https://www.readbyqxmd.com/read/29713987/low-rates-of-dermatologic-care-and-skin-cancer-screening-among-inflammatory-bowel-disease-patients
#5
Alyce Anderson, Laura K Ferris, Benjamin Click, Claudia Ramos-Rivers, Ioannis E Koutroubakis, Jana G Hashash, Michael Dunn, Arthur Barrie, Marc Schwartz, Miguel Regueiro, David G Binion
BACKGROUND: Dermatologic manifestations of inflammatory bowel disease (IBD) are common, and certain IBD medications increase the risk of skin cancer. AIMS: To define the rates of care and factors associated with dermatologic utilization with a focus on skin cancer screening. METHODS: We utilized a prospective, natural history IBD research registry to evaluate all outpatient healthcare encounters from 2010 to 2016. Gastrointestinal, dermatologic and primary care visits per individual were identified...
April 30, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29705262/characteristics-and-outcomes-reported-by-patients-with-primary-sclerosing-cholangitis-through-an-online-registry
#6
Alexander Kuo, Rachel Gomel, Ricky Safer, Keith D Lindor, Gregory T Everson, Christopher L Bowlus
BACKGROUND AND AIMS: Primary sclerosing cholangitis (PSC) is a fibrostenosing disease of the bile ducts associated with inflammatory bowel disease (IBD) for which the only treatment is liver transplantation. PSC progression has been defined in cohorts from referral centers or single-nation population databases. However, observations made from these cohorts have limited applicability due to referral bias and demographic confounders. We analyzed data from the worldwide PSC Partners Patient Registry, an international online database established in 2014 to obtain information from individuals with PSC or their caretakers and compare symptoms, disease progression, and treatments of PSC in the Unites States (US) and other countries...
April 26, 2018: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29657930/establishment-and-development-of-the-first-biobank-of-inflammatory-bowel-disease-suspected-to-primary-immunodeficiency-diseases-in-iran
#7
Roya Sherkat, Soodabeh Rostami, Majid Yaran, Mohammad Hassan Emami, Hosein Saneian, Hamid Tavakoli, Peyman Adibi, Mahdieh Behnam, Saba Sheykhbahaei, Bahram Bagherpour, Razieh Khoshnevisan, Somayeh Najafi
Background: Inflammatory bowel disease (IBD) might be an immunodeficiency rather than an excessive inflammatory reaction. IBD, suspected to primary immunodeficiency diseases biobank (IBDSPIDB) as a resource for researches can help improve the prevention, diagnosis, and illness treatment and the health promotion throughout the society. Therefore, we launched the biobank of IBDSPID for the first time in Iran. Materials and Methods: This study was designed to provide the IBDSPIDB to have a high-quality DNA, RNA, and cDNA...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29596443/serum-anti-glycan-antibodies-in-relatives-of-patients-with-inflammatory-bowel-disease
#8
Florian Kamm, Ulrike Strauch, Frauke Degenhardt, Rocio Lopez, Claudia Kunst, Gerhard Rogler, Andre Franke, Frank Klebl, Florian Rieders
BACKGROUND: Serum anti-glycan antibodies are a promising tool for differential diagnosis, disease stratification and prediction of Crohn's disease (CD). To investigate possible heritability of the markers we assessed the presence of serum anti-glycan antibodies in affected and unaffected relatives of patients with CD. METHODS: Serum samples of 169 IBD patients of the German inflammatory bowel disease (IBD) network (140 CD & 29 Ulcerative colitis (UC)), 349 relatives of CD patients, 63 relatives of UC patients and 46 healthy controls were tested for the presence of anti-glycan antibodies by ELISA in a blinded fashion...
2018: PloS One
https://www.readbyqxmd.com/read/29594975/hispanic-americans-and-non-hispanic-white-americans-have-a-similar-inflammatory-bowel-disease-phenotype-a-systematic-review-with-meta-analysis
#9
Danny J Avalos, Antonio Mendoza-Ladd, Marc J Zuckerman, Mohammad Bashashati, Andres Alvarado, Alok Dwivedi, Oriana M Damas
BACKGROUND: Inflammatory bowel disease (IBD) is a devastating immune-mediated disease on the rise in Hispanics living in the USA. Prior observational studies comparing IBD characteristics between Hispanics and non-Hispanic whites (NHW) have yielded mixed results. AIMS: We performed a meta-analysis of observational studies examining IBD phenotype in Hispanics compared to NHW. METHODS: We conducted a systematic search of US-based studies comparing IBD subtype (Ulcerative Colitis: UC or Crohn's disease: CD) and phenotype (disease location and behavior) between Hispanics and NHW...
June 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29469913/revisiting-the-carrageenan-controversy-do-we-really-understand-the-digestive-fate-and-safety-of-carrageenan-in-our-foods
#10
Shlomit David, Carmit Shani Levi, Lulu Fahoum, Yael Ungar, Esther G Meyron-Holtz, Avi Shpigelman, Uri Lesmes
Carrageenan (CGN), a family of marine polysaccharides isolated from seaweeds, has been at the heart of considerable debate in recent years. To date, CGN is generally recognized as safe based on a history of safe use, various acute toxicology studies and some recent chronic toxicology tests. This review offers readers an overview of evidence on CGN characteristics and digestive fate that highlight various gaps in our understanding. Specifically, three unresolved gaps are identified. Firstly, little information can be found on the current levels of public exposure to CGN...
March 1, 2018: Food & Function
https://www.readbyqxmd.com/read/29399122/investigation-of-inflammatory-bowel-disease-risk-factors-in-4-families-in-central-china
#11
Shufang Xu, Hui Zou, Heng Zhang, Siying Zhu, Rui Zhou, Jin Li
The prevalence of inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is increasing markedly in China. The present study performed pedigree analysis of 4 families with a history of IBD and investigated the association of genetic and environmental factors with susceptibility to IBD. A total of 10 IBD patients (8 CD patients and 2 UC patients) and 90 family members were included in the present study. The clinical characteristics of familial subjects were compared with those of patients with sporadic IBD...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29333063/familial-and-ethnic-risk-in-inflammatory-bowel-disease
#12
REVIEW
Maria Pia Costa Santos, Catarina Gomes, Joana Torres
Familial aggregation in inflammatory bowel disease (IBD) has been established for several decades, reflecting shared genetic and environmental susceptibility. A positive family history remains the strongest recognizable risk factor for the development of IBD and is reported in around 8-12% of IBD patients. Crohn's disease shows a more frequent familial pattern than ulcerative colitis. The risk of developing IBD in first-degree relatives of an affected proband is increased 4- to 8-fold. The risk for twins and children born from couples who both have IBD is also substantially higher; a cumulative effect of the number of family members affected has been described, with the highest incidence being described for families with three or more affected members...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29297395/between-lake-baikal-and-the-baltic-sea-genomic-history-of-the-gateway-to-europe
#13
Petr Triska, Nikolay Chekanov, Vadim Stepanov, Elza K Khusnutdinova, Ganesh Prasad Arun Kumar, Vita Akhmetova, Konstantin Babalyan, Eugenia Boulygina, Vladimir Kharkov, Marina Gubina, Irina Khidiyatova, Irina Khitrinskaya, Ekaterina E Khrameeva, Rita Khusainova, Natalia Konovalova, Sergey Litvinov, Andrey Marusin, Alexandr M Mazur, Valery Puzyrev, Dinara Ivanoshchuk, Maria Spiridonova, Anton Teslyuk, Svetlana Tsygankova, Martin Triska, Natalya Trofimova, Edward Vajda, Oleg Balanovsky, Ancha Baranova, Konstantin Skryabin, Tatiana V Tatarinova, Egor Prokhortchouk
BACKGROUND: The history of human populations occupying the plains and mountain ridges separating Europe from Asia has been eventful, as these natural obstacles were crossed westward by multiple waves of Turkic and Uralic-speaking migrants as well as eastward by Europeans. Unfortunately, the material records of history of this region are not dense enough to reconstruct details of population history. These considerations stimulate growing interest to obtain a genetic picture of the demographic history of migrations and admixture in Northern Eurasia...
December 28, 2017: BMC Genetics
https://www.readbyqxmd.com/read/29216767/prevalence-and-factors-associated-with-gluten-sensitivity-in-inflammatory-bowel-disease
#14
Berkeley N Limketkai, Rachel Sepulveda, Tressia Hing, Neha D Shah, Monica Choe, David Limsui, Shamita Shah
OBJECTIVES: Gluten sensitivity (GS) arises with celiac disease and has also been found in non-celiac disorders, although its characteristics in inflammatory bowel disease (IBD) are unclear. This study evaluated the prevalence of GS and factors associated with GS in IBD. METHODS: Adult IBD patients at a tertiary-care medical center completed a survey of their demographics, medical history, family history, social history and symptoms. Data on IBD characteristics were abstracted from the medical records...
February 2018: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/29145572/differences-in-clinical-course-genetics-and-the-microbiome-between-familial-and-sporadic-inflammatory-bowel-diseases
#15
Nienke Z Borren, Grace Conway, John J Garber, Hamed Khalili, Shrish Budree, Himel Mallick, Vijay Yajnik, Ramnik J Xavier, Ashwin N Ananthakrishnan
Background and Aim: Family history is the strongest risk factor for developing Crohn's disease [CD] or ulcerative colitis [UC]. We investigated whether the proximity of relationship with the affected relative and concordance for type of inflammatory bowel disease [IBD] modifies the effect of family history on phenotype and disease severity. Method: This cross-sectional study included patients with a confirmed diagnosis of IBD in a clinical registry. Family history of IBD was assessed by a questionnaire ascertaining presence of disease in a first-first-degree, second-second-degree or distant relative...
April 27, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29022402/antibiotics-exposure-and-risk-of-inflammatory-bowel-disease-a-systematic-review
#16
Nikoletta A Theochari, Anastasios Stefanopoulos, Konstantinos S Mylonas, Konstantinos P Economopoulos
AIM: The aim of this study was to critically assess all available evidence suggesting an association between antibiotic exposure and new onset of inflammatory bowel disease (IBD). MATERIALS AND METHODS: This systematic review was conducted according to the PRISMA statement and eligible studies were identified through search of PubMed, Embase and the Cochrane Library. Data on patient demographics, antibiotic exposure and confounding factors were analyzed. The Newcastle-Ottawa Scale (NOS) was used to assess the quality of eligible studies...
January 2018: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28894519/epidemiologic-characteristics-of-patients-with-inflammatory-bowel-disease-in-kermanshah-iran
#17
Mehdi Zobeiri, Homayoon Bashiri, Lotfollah Askari, Ali Asghar Keshavars, Ramin Tavvafzadeh, Kiomars Fatahi, Farid Najafi
BACKGROUND This study was done to define some epidemiological aspects of inflammatory bowel disease (IBD), and to describe its characteristics in west of Iran. METHODS In this descriptive study all patient with the diagnosis of IBD who were visited in universityaffiliated medical centers, between 2014 and 2015 were recruited. Their demographic characteristics, disease-related manifestations, complications, disease course and their chief complaints were analyzed. RESULTS Of 156 referred individuals, 153 patients had ulcerative colitis (UC) and 3 patients had Crohn's diseases (CD)...
July 2017: Middle East Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28882616/screening-of-inflammatory-bowel-disease-and-spondyloarthritis-for-referring-patients-between-rheumatology-and-gastroenterology
#18
Jesús Sanz Sanz, Xavier Juanola Roura, Daniel Seoane-Mato, Miguel Montoro, Fernando Gomollón
OBJECTIVE: To define clinical screening criteria for spondyloarthritis (SpA) in patients with inflammatory bowel disease (IBD) and vice versa, which can be used as a reference for referring them to the rheumatology or gastroenterology service. METHOD: Systematic literature review and a two-round Delphi method. The scientific committee and the expert panel were comprised of 2 rheumatologists and 2 gastroenterologists, and 7 rheumatologists and 7 gastroenterologists, respectively...
January 2018: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28799006/multiple-sclerosis-and-environmental-risk-factors-a-case-control-study-in-iran
#19
Maryam Abbasi, Seyed Massood Nabavi, Seyed Mohammad Fereshtehnejad, Nikan Zerafat Jou, Iman Ansari, Vahid Shayegannejad, Seyed Ehsan Mohammadianinejad, Mahdi Farhoudi, Abbas Noorian, Nazanin Razazian, Mahmoud Abedini, Fardin Faraji
Studies have shown an increase in the incidence of MS in Iran. The aim of our study was to evaluate the relationship between environmental exposure and MS in Iran. This case-control study was conducted on 660 MS patients and 421 controls. Many environmental factors are compared between the two groups. Our findings demonstrated that prematurity ([OR = 4.99 (95% CI 1.34-18.68), P = 0.017]), history of measles and mumps ([OR = 1.60 (95% CI 1.05-2.45), P = 0.029; OR = 1.85 (95% CI 1.22-2.78), P = 0...
November 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28796036/case-report-of-a-pair-of-siblings-with-cryptogenic-multifocal-ulcerating-stenosing-enteritis-a-rare-disease-easily-to-be-misdiagnosed-as-crohn-disease
#20
Yu Zhang, Lingjie Huang, Rongbei Liu, Mengyu Wang, Zhinong Jiang, Wei Zhou, Qian Cao
RATIONALE: The rare disease cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is characterized by multiple and recurring small intestinal ulcers with stenosis of unknown causes. In clinic, it is difficult to be differentiated from the inflammatory bowel disease, especially the Crohn disease. PATIENT CONCERNS: Here we report a pair of siblings who suffered from long-time anemia and abdominal pain and misdiagnosed with inflammatory bowel disease (IBD) for many years...
August 2017: Medicine (Baltimore)
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