检索结果-南通市图书馆

Genome-wide Studies Reveal Genetic Risk Factors for Hepatic Fat Content

Genomics, Proteomics & Bioinformatics 2024年第2期22卷 57-68页

作者： Yanni Li Eline H.van den Berg Alexander kurilshikov Dasha V.Zhernakova Ranko Gacesa Shixian Hu Esteban A.Lopera-Maya Alexandra Zhernakova Lifelines Cohort Study Vincent E.de Meijer Serena Sanna Robin P.F.Dullaart Hans Blokzijl Eleonora A.M.Festen Jingyuan Fu rinse k.weersma Department of Gastroenterology and Hepatology University of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands Department of Genetics University of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands Department of Gastroenterology and Hepatology Tianjin Medical University General HospitalTianjin Medical UniversityTianjin 300052China Laboratory of Genomic Diversity Center for Computer TechnologiesITMO UniversitySaint Petersburg 199034Russia Institute of Precision Medicine the First Affiliated HospitalSun Yat-sen UniversityGuangzhou 510080China Department of Surgery Section of Hepatobiliary Surgery and Liver TransplantationUniversity of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands Department of Endocrinology University of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands Department of Pediatrics University of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands 不详

Genetic susceptibility to metabolic associated fatty liver disease(MAFLD)is complex and poorly *** characterization of the genetic background of hepatic fat content would provide insights into disease etiology and causality of risk *** performed genome-wide association study(GWAS)on two noninvasive definitions of hepatic fat content:magnetic resonance imaging proton density fat fraction(MRI-PDFF)in 16,050 participants and fatty liver index(FLI)in 388,701 participants from the United kingdom(Uk)Biobank(UkBB).Heritability,genetic overlap,and similarity between hepatic fat content phenotypes were analyzed,and replicated in 10,398 participants from the University Medical Center Groningen(UMCG)Genetics Lifelines Initiative(UGLI).Meta-analysis of GWASs of MRI-PDFF in UkBB revealed five statistically significant loci,including two novel genomic loci harboring CREB3L1(rs72910057-T,P=5.40E−09)and GCM1(rs1491489378-T,P=3.16E−09),respectively,as well as three previously reported loci:PNPLA3,TM6SF2,and *** of FLI in UkBB identified 196 genome-wide significant loci,of which 49 were replicated in UGLI,with top signals in ZPR1(P=3.35E−13)and FTO(P=2.11E−09).Statistically significant genetic correlation(rg)between MRI-PDFF(UkBB)and FLI(UGLI)GWAS results was found(rg=0.5276,P=1.45E−03).Novel MRI-PDFF genetic signals(CREB3L1 and GCM1)were replicated in the FLI *** identified two novel genes for MRI-PDFF and 49 replicable loci for *** a difference in hepatic fat content assessment between MRI-PDFF and FLI,a substantial similar genetic architecture was *** is identified as an easy and reliable approach to study hepatic fat content at the population level.

关键词： Hepatic fat content MAFLD Genome-wide association study Fatty liver index Magnetic resonance imaging proton density fat fraction

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Distinctive inflammatory bowel disease phenotype in primary sclerosing cholangitis

引用

World Journal of Gastroenterology 2015年第6期21卷 1956-1971页

作者： A Boudewijn de Vries Marcel Janse Hans Blokzijl rinse k.weersma Department of Gastroenterology and Hepatology University Medical Centre Groningen University of Groningen

AIM:To review the current literature for the specificclinical characteristics of inflammatory bowel disease(IBD)associated with primary sclerosing cholangitis(PSC).METHODS:A systematical review for clinical characteristics of IBD in PSC was performed by conducting a broad search for"primary sclerosing cholangitis"in Pubmed."Clinical characteristics"were specified into five predefined subthemes:epidemiology of IBD in PSC,characteristics of IBD in PSC(i.e.,location,disease behavior),risk of colorectal cancer development,IBD recurrence and de novo disease after liver transplantation for PSC,and safety and complications after proctocolectomy with ileal pouchanal *** were selected for inclusion based on their relevance to the subthemes,and were reviewed by two independent *** full papers relevant to PSC-IBD were *** the references of recent reviews for PSC(75%).The highest IBD rates in PSC are found in papers reviewing both endoscopic and histological data for IBD *** IBD in PSC is found to be a quiescent disease,pancolitis occurs often,with rates varying from 35%to 95%.Both backwash ileitis and rectal sparing are observed *** development of dysplasia or colorectal carcinoma is increased in PSC-IBD;the cumulative 10 years risk varying between 0%and11%.Exacerbation of IBD is common after liver transplantation for PSC and de novo disease is seen in1.3%to 31.3%of PSC-IBD *** risk for development of pouchitis in PSC-IBD is found to besignificant,affecting 13.8%to 90%of the

关键词： Primary sclerosing cholangitis Inflammatory bowel

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Non-small-bowel abnormalities identified during small bowel capsule endoscopy

引用

World Journal of Gastroenterology 2014年第14期20卷 4025-4029页

作者： Reinier A Hoedemaker Jessie Westerhof rinse k.weersma Jan J koornstra Department of Gastroenterology and Hepatology University Medical Centre GroningenUniversity of Groningen

AIM: To investigate the incidence of non-small-bowel abnormalities in patients referred for small bowel capsule endoscopy, this single center study was performed.

关键词： Capsule endoscopy Small bowel Findings Colon Stomach

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Multi-locus genetic risk score predicts risk for Crohn's disease in Slovenian population

引用

World Journal of Gastroenterology 2016年第14期22卷 3777-3784页

作者： katarina Zupancic kristijan Skok katja Repnik rinse k.weersma Uros Potocnik Pavel Skok Center for Human Genetics and Pharmacogenomics Medical Faculty of Maribor University of Maribor 2000 Maribor Slovenia Department of Gastroenterology and Hepatology University of Groningen and University Medical Center Groningen 9700 Groningen The Netherlands Department of Gastroenterology University Medical Center 2000 Maribor Slovenia Slovenia and Medical Faculty of Maribor University of Maribor 2000 Maribor Slovenia

AIM: To develop a risk model for Crohn’s disease (CD) based on homogeneous ***: In our study were included 160 CD patients and 209 healthy individuals from Slovenia. The association study was performed for 112 single nucleotide polymorphisms (SNPs). We generated genetic risk scores (GRS) based on the number of risk alleles using weighted additive model. Discriminatory accuracy was measured by area under ROC curve (AUC). For risk evaluation, we divided individuals according to positive and negative likelihood ratios (LR) of a test, with LR > 5 for high risk group and LR k ***: The highest accuracy, AUC of 0.78 was achieved with GRS combining 33 SNPs with optimal sensitivity and specificity of 75.0% and 72.7%, respectively. Individuals with the highest risk (GRS > 5.54) showed significantly increased odds of developing CD (OR = 26.65, 95%CI: 11.25-63.15) compared to the individuals with the lowest risk (GRS k captured than in one SNP with the highest effect size (OR = 3.24). When more than 33 SNPs were included in GRS, discriminatory ability was not improved significantly; AUC of all 74 SNPs was ***: The authors proved the possibility of building accurate genetic risk score based on 33 risk variants on Slovenian CD patients which may serve as a screening tool in the targeted population.

关键词： Inflammatory bowel disease Crohn’ s disease Discriminatory accuracy Genetic risk score Single nucleotide polymorphisms

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Predicting(side) effects for patients with inflammatory bowel disease: The promise of pharmacogenetics

引用

World Journal of Gastroenterology 2019年第21期25卷 2539-2548页

作者： Michiel Dirk Voskuil Amber Bangma rinse karel weersma Eleonora Anna Margaretha Festen Department of Gastroenterology and Hepatology University of Groningen and University Medical Center GroningenGroningen 9713 GZthe Netherlands Department of Genetics University of Groningen and University Medical Center GroningenGroningen 9713 GZthe Netherlands

Inflammatory bowel disease (IBD) is a chronic and heterogeneous intestinal inflammatory disorder. The medical management of IBD aims for long-lasting disease remission to prevent complications and disease progression. Early introduction of immunosuppression forms the mainstay of medical IBD management. Large inter-individual variability in drug responses, in terms of both efficacy and toxicity, leads to high rates of therapeutic failure in the management of IBD. Better patient stratification is needed to maximize patient benefit and minimize the harm caused by adverse events. Pre-treatment pharmacogenetic testing has the potential to optimize drug selection and dose, and to minimize harm caused by adverse drug reactions. In addition, optimizing the use of cheap conventional drugs, and avoiding expensive ineffective drugs, will lead to a significant reduction in costs. Genetic variation in both TPMT and NUDT15, genes involved in thiopurine metabolism, is associated to an increased risk of thiopurine-induced myelosuppression. Moreover, specific HLA haplotypes confer risk to thiopurine-induced pancreatitis and to immunogenicity to tumor necrosis factor-antagonists, respectively. Falling costs and increased availability of genetic tests allow for the incorporation of pre-treatment genetic tests into clinical IBD management guidelines. In this paper, we review clinically useful pharmacogenetic associations for individualized treatment of patients with IBD and discuss the path from identification of a predictive pharmacogenetic marker to implementation into IBD clinical care.

关键词： Inflammatory bowel disease Crohn’s disease Ulcerative colitis Pharmacogenetics Personalized medicine

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Management of rectal foreign bodies: Description of a new technique and clinical practice guidelines

引用

World Journal of Gastroenterology 2008年第27期14卷 4403-4406页

作者： Jan J koornstra rinse k.weersma Department of Gastroenterology & Hepatology University Medical Centre Groningen University of Groningen

A number of techniques have been described to remove rectal foreign bodies. In this report, a novel endoscopic technique using a pneumatic dilatation balloon normally used in achalasia patients is presented. In addition, a systematic review of the literature was performed for non-operative methods to remove foreign bodies from the rectum. These results are summarised, presented as a practical at-a- glance overview and a flow chart is offered to guide the clinician in treatment decisions. The design of the flow chart was based on the aims to treat the patient preferably on an outpatient basis with minimally invasive techniques and if possible under conscious sedation rather than general anaesthesia.

关键词： Foreign body Rectum Rectal Removal Review

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Performance of the Montreal classification for inflammatory bowel diseases

引用

World Journal of Gastroenterology 2014年第41期20卷 15374-15381页

作者： Lieke M Spekhorst Marijn C Visschedijk Rudi Alberts Eleonora A Festen Egbert-Jan van der Wouden Gerard Dijkstra rinse k.weersma Department of Gastroenterology and Hepatology University of Groningen and University Medical Centre Groningen Department of Genetics University of Groningen and University Medical Centre Groningen Department of Gastroenterology Isala Clinics Zwolle

AIM: To validate the Montreal classification system for Crohn’s disease (CD) and ulcerative colitis (UC) within the Netherlands.

关键词： Crohn’ s disease Ulcerative colitis Montreal classification Phenotypes- inter-observer agreement

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Pharmacomicrobiomics： a novel route towards personalized medicine？

引用

Protein & Cell 2018年第5期9卷 432-445页

作者： Marwah Doestzada Arnau Vich Vila Alexandra Zhernakova Debby P.Y. koonen rinse k. weersma Daan J. TOUW Folkert kuipers Cisca Wijmenga Jingyuan Fu Departments of Genetics University Medical Center Groningen PO Box 30001 9700 RB Groningen The Netherlands Departments of Paediatrics University Medical Center Groningen PO Box 30001 9700 RB Groningen The Netherlands Departments of Gastroenterology & Hepatology University Medical Center Groningen PO Box 30001 9700 RB Groningen The Netherlands Departments of Clinical Pharmacy & Pharmacology University Medical Center Groningen PO Box 30001 9700 RB Groningen The Netherlands Departments of Laboratory Medicine University Medical Center Groningen PO Box 30001 9700 RB Groningen The Netherlands k.G. Jebsen Coeliac Disease Research Centre Department of Immunology University of Oslo P.O. Box 1072 Blindern 0316 Oslo Norway

Inter-individual heterogeneity in drug response is a serious problem that affects the patient＇s wellbeing and poses enormous clinical and financial burdens on a societal level. Pharmacogenomics has been at the forefront of research into the impact of individual genetic background on drug response variability or drug toxicity, and recently the gut microbiome, which has also been called the second genome, has been recog- nized as an important player in this respect. Moreover, the microbiome is a very attractive target for improving drug efficacy and safety due to the opportunities to manipulate its composition. Pharmacomicrobiomics is an emerging field that investigates the interplay of microbiome variation and drugs response and disposi- tion （absorption, distribution, metabolism and excretion）. In this review, we provide a historical overview and examine current state-of-the-art knowledge on the complex interactions between gut microbiome, host and drugs. We argue that combining pharmacogenomics and pharmacomicrobiomics will provide an important foundation for making major advances in personalized medicine.

关键词： gut microbiome drug metabolism personalized medicine

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Diagnostic yield of small bowel capsule endoscopy depends on the small bowel transit time

引用

World Journal of Gastroenterology 2012年第13期18卷 1502-1507页

作者： Jessie Westerhof Jan J koornstra Reinier A Hoedemaker Wim J Sluiter Jan H kleibeuker rinse k.weersma Department of Gastroenterology and Hepatology University Medical Center GroningenUniversity of GroningenPO Box 300019700 RBGroningenThe Netherlands

AIM： To investigate whether the small bowel transit time （SBTT） influences the diagnostic yield of capsule endoscopy （CE）. METHODS： Six hundred and ninety-one consecutive CE procedures collected in a database were analyzed. SBTT and CE findings were recorded. A running mean for the SBl-I- was calculated and correlated to the diagnostic yield with a Spearman＇s correlation test. Subgroup anal- yses were performed for the various indications for the procedure. RESULTS： There was a positive correlation between the diagnostic yield and SBT1- （Spearman＇s rho 0.58, P 〈 0.01）. Positive correlations between diagnostic yield and SB-FI-were found for the indication obscure gastro- intestinal bleeding （r = 0.54, P 〈 0.01）, for polyposis and carcinoid combined （r = 0.56, P 〈 0.01） and for the other indications （r = 0.90, P 〈0.01）, but not for suspected Crohn＇s disease （r = -0.40） CONCLUSION： The diagnostic yield in small bowel capsule endoscopy is positively correlated with the small bowel transit time. This is true for all indications except for suspected Crohn＇s disease.

关键词： Capsule endoscopy Small bowel transit time Diagnostic yield

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Prevalence of-and risk factors for work disability in Dutch patients with inflammatory bowel disease

引用

World Journal of Gastroenterology 2017年第46期23卷 8182-8192页

作者： Lieke M Spekhorst Bas Oldenburg Ad A van Bodegraven Dirk J de Jong Floris Imhann Andrea E van der Meulen-de Jong Marieke J Pierik Janneke C van der Woude Gerard Dijkstra Geert D'Haens Mark Lowenberg rinse k.weersma Eleonora AM Festen 无 Department of Gastroenterology and Hepatology University of Groningen and University Medical Centre Groningen Department of Genetics University of Groningen and University Medical Centre Groningen Department of Gastroenterology and Hepatology University Medical Center Utrecht Department of Gastroenterology and Hepatology VU University Medical Center Department of Gastroenterology and Hepatology University Medical Center St. Radboud Department of Gastroenterology and Hepatology Leiden University Medical Center Department of Gastroenterology and Hepatology University Medical Center Maastricht Department of Gastroenterology and Hepatology Erasmus Medical Center Department of Gastroenterology and Hepatology Amsterdam Medical Center Parelsnoer Institute and the Dutch Initiative on Crohn and Colitis

AIM To determine the prevalence of work disability in inflammatory bowel disease(IBD), and to assess risk factors associated with work *** For this retrospective cohort study, we retrieved clinical data from the Dutch IBD Biobank on July 2014, containing electronic patient records of 3388 IBD patients treated in the eight University Medical Centers in the Netherlands. Prevalence of work disability was assessed in 2794 IBD patients and compared with the general Dutch population. Multivariate analyses were performed for work disability(sick leave, partial and full disability) and long-term full work disability(> 80% work disability for > 2 years).RESULTS Prevalence of work disability was higher in Crohn's disease(CD)(29%) and ulcerative colitis(UC)(19%) patients compared to the general Dutch population(7%). In all IBD patients, female sex, a lower education level, and extra-intestinal manifestations, were associated with work disability. In CD patients, an age > 40 years at diagnosis, disease duration > 15 years,smoking, surgical interventions, and anti-TNFα use were associated with work disability. In UC patients, an age > 55 years, and immunomodulator use were associated with work disability. In CD patients, a lower education level(OR = 1.62, 95%CI: 1.02-2.58), and in UC patients, disease complications(OR = 3.39, 95%CI: 1.09-10.58) were associated with long-term full work *** The prevalence of work disability in IBD patients is higher than in the general Dutch population. Early assessment of risk factors for work disability is necessary, as work disability is substantial among IBD patients.

关键词： Inflammatory bowel disease Crohn’s disease Ulcerative colitis Work disability Health care costs

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：