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Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in CTLA4 gene:A case report

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世界临床病例杂志 2023年第26期11卷 6176-6182页

作者： Ugur Musabak Tuba Erdoğan Serdar Ceylaner EmreÖzbek Nuretdin Suna Binnaz HandanÖzdemir Department of Immunology and Allergy Baskent University School of MedicineAnkara 06490AnkaraTurkey Department of Medical Genetics Lokman Hekim UniversityAnkara 06000Turkey Department of Medical Genetics Intergen Genetic and Rare Disease Diagnosis and Reseach CenterAnkara 06000Turkey Department of Immunology-Allergy Etlik City HospitalAnkara 06490AnkaraTurkey division of Gastroenterology Baskent University School of MedicineAnkara 06000Turkey Department of Pathology Baskent UniversityAnkara 06000Turkey

BACKGROUND Cytotoxic T Lymphocyte Antigen-4(CTLA4)deficiency is a genetic defect that causes a common variable immunodeficiency(CVID)clinical *** studies have reported an association between CTLA mutations or variants and various autoimmune *** therapy models,which have become increasingly popular in recent years,have been successful in treating CTLA4 *** this article,we discuss the clinical outcomes of abatacept treatment in a patient with CTLA4 and lipopolysaccharide-responsive beige-like anchor(LRBA)variants that was previously diagnosed with *** SUMMARY A 25-year-old female patient,who was visibly cachectic,visited our clinic over the course of five years,complaining of *** patient was diagnosed with ulcerative colitis in the centers she had visited previously,and various treatments were administered;however,clinical improvement could not be *** hypokalemia was detected during an *** serum immunoglobulin levels,CD19+B-cell percentage,and CD4/CD8 ratio were *** endoscopic examination revealed erosive gastritis,nodular duodenitis,and *** findings supported the presence of immune mediated *** the patient was examined carefully,she was diagnosed with CVID,and intravenous immunoglobulin treatment was *** and rectal therapeutic drugs including steroid therapy episodes were administered to treat the immune mediated *** follow-ups and treatment were performed due to the *** conducting genetic analyses,the CTLA4 and LRBA variants were identified and abatacept treatment was *** targeted therapy,the patient’s clinical and laboratory findings rapidly regressed,and there was an increase in *** The heterozygous CTLA4 variant identified in the patient has been previously shown to be associated with various autoimmune *** successful clinical outcome of abatacept treatment in this patien

关键词： Common variable immunodeficiency Abatacept CTLA4 antigen Case report

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Chemical colitis caused by hydrogen peroxide vaginal douche: A case report

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World Journal of Gastrointestinal Endoscopy 2019年第9期11卷 486-490页

作者： Ahmed Baiomi Harish Patel Hafsa Abbas Vamshidhar Vootla Jasbir Makker Department of Medicine Division of GastroenterologyBronx Care Health System1650 Selwyn AveBronxNY 10457United States Western Maryland Health System 12500 Willowbrook RdCumberlandMD 21502United States

BACKGROUND Hydrogen peroxide is one of the most common household disinfectants *** peroxide has been documented as a rare cause of chemical *** SUMMARY We present a case of 31 years old lady who presented to our hospital with rectal bleeding and abdominal pain after using hydrogen peroxide vaginal douche as an *** underwent colonoscopy which showed findings suggestive of chemical colitis and was managed *** peroxide can induce chemical injury in the *** presentation and endoscopic findings of chemical colitis are *** taking is an important tool in identifying the underlying *** of literature showed few case reports,mostly were managed with oral antibiotics and conservative *** Chemical colitis is usually managed *** including perforation,stricture and peritonitis may happen and need aggressive treatment accordingly.

关键词： Chemical colitis Hydrogen peroxide Colitis Vaginal douche colonoscopy Case report

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ERCC1 expression in patients with colorectal cancer:a pilot study

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Journal of Cancer Metastasis and Treatment 2016年第1期2卷 471-476页

作者： Kinjal K.Gajjar Deep Kumari Yadav Toral P.Kobawala Trupti I.Trivedi Hemangini H.Vora Nandita R.Ghosh Cancer Biology Department the Gujarat Cancer and Research InstituteNCH CompoundAsarwaAhmedabad 380016GujaratIndia Immunohistochemistry and Flow Cytometry division Cancer Biology DepartmentThe Gujarat Cancer and Research InstituteNCH CompoundAsarwaAhmedabad 380016GujaratIndia

Aim:Excision repair cross complementation group 1(ERCC1)has a key role in enhanced DNA damage repair caused by oxaliplatin-based therapy and may lead to resistance of these platinum drugs in colorectal cancer(CRC)***,the present preliminary study aimed to explore the role of ERCC1 C/T polymorphism at codon 118 as well as its immunoreactivity in patients with primary ***:ERCC1 polymorphism was studied using PCR-RFLP and ERCC1 protein expression was examined by immunohistochemistry in 50 CRC ***:ERCC1 codon 118 C/T polymorphism analysis reported the predominance of C/T(52%)genotype as compared to C/C(38%)and T/T(10%)***,72%of patients showed positive ERCC1 protein *** correlation was not observed between clinicopathological parameters and ERCC1 polymorphism,while ERCC1 protein expression significantly correlated only with tumor site(colon ***)(P=0.046).Further,the present study failed to demonstrate the role of ERCC1 C118T polymorphism or protein expression as useful prognostic markers in CRC ***:ERCC1-positive protein expression may be a useful marker for rectal cancer ***,further evaluation in a larger set of CRC patients is required to better understand the role of ERCC1.

关键词： Excision repair cross complementation group 1 oxaliplatin colorectal cancer polymorphism protein expression PCR-RFLP immunohistochemistry

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Endoscopic resection of sparganosis presenting as colon submucosal tumor: A case report

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World Journal of Gastroenterology 2016年第19期22卷 4776-4780页

作者： Joong Keun Kim Dong Hoon Baek Bong Eun Lee Gwang Ha Kim Geun Am Song Do Youn Park division of Gastroenterology Departments of Internal Medicine Pusan National University School of Medicine and Biomedical Research Institute Pusan National University Hospital Department of Pathology Pusan National University School of Medicine and Biomedical Research Institute Pusan National University Hospital

Human sparganosis is a rare parasitic disease caused by infection with the tapeworm Sparganum, the migrating plerocercoid(second stage) larva of Spirometra species. Sparganosis usually involves subcutaneous tissues and/or muscles of various parts of the body, but involvement of other sites such as the brain, eye, peritoneopleural cavity, urinary track, scrotum, and abdominal viscera has also been documented. Infections caused by sparganum have a worldwide distribution but are most common in Southeast Asia such as China, Japan, and South Korea. rectal sparganosis is an uncommon disease but should be considered in the differential diagnosis of unusual and suspicious rectal submucosal tumors. We report a case of rectal sparganosis presenting as rectal submucosal tumor. We performed endoscopic submucosal dissection of the rectal submucosal tumor. The sparganosis was confirmed based on the presence of calcospherules in the submucosal layer on histological examination. Moreover, the result of the immunoglobulin G antibody test for sparganosis was positive but became negative after endoscopic submucosal dissection. Though rare, rectal sparganosis should be considered in the differential diagnosis of rectal submucosal tumor-like lesions. This case suggests that physicians should make effort to exclude sparganosis through careful diagnostic approaches, including detailed history taking and serological tests for parasites. In this report, we aimed to highlight the clinical presentation of Sparganum infection as a rectal submucosal tumor.

关键词： Rectum Submucosal tumor Sparganosis Sparganum Parasite disease

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Colorectal motility patterns and psychiatric traits in functional constipation and constipation-predominant irritable bowel syndrome:A study from China

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World Journal of Gastroenterology 2023年第41期29卷 5657-5667页

作者： Chao-Lan Lv Geng-Qing Song Jie Liu Wei Wang Yi-Zhou Huang Bo Wang Jia-Shuang Tian Meng-Qing Yin Yue Yu Department of Gastroenterology The First Affiliated Hospital of University of Science and Technology of ChinaHefei 230001Anhui ProvinceChina division of Life Sciences and Medicine University of Science and Technology of ChinaHefei 230001Anhui ProvinceChina Department of Gastroenterology and Hepatology Metrohealth Medical CenterCase Western Reserve UniversityClevelandOH 44109United States Department of Gastroenterology Affiliated Anhui Provincial HospitalAnhui Medical UniversityHefei 230001Anhui ProvinceChina Department of Gastroenterology Graduate School of Bengbu Medical CollegeBengbu 233000Anhui ProvinceChina

BACKGROUND Functional constipation(FC)and constipation-predominant irritable bowel syndrome(IBS-C)represent a spectrum of constipation ***,the majority of previous clinical investigations have focused on Western populations,with limited data originating from *** To determine and compare the colorectal motility and psychiatric features of FC and IBS-C in an Eastern Chinese *** Consecutive chronic constipation patients referred to our motility clinic from December 2019 to February 2023 were *** and IBS-C diagnoses were established using ROME IV criteria,and patients underwent high-resolution anorectal manometry(ARM)and a colonic transmit test using the Sitz marker ***-related symptoms were obtained through *** and depression were assessed by the Hamilton anxiety rating scale and the Hamilton Depression Rating *** clinical characteristics and colorectal motility patterns of FC and IBS-C patients were *** No significant differences in sex,age or abdominal discomfort symptoms were observed between IBS-C and FC patients(all P>0.05).The proportion of IBS-C patients with delayed colonic transit was higher than that of patients with FC(36.63%vs 15.91%,Pcolon transit time were significantly more likely to have anxiety than those wit

关键词： Functional constipation Constipation-predominant irritable bowel syndrome High-resolution anorectal manometry colonic transmit test Anxiety Depression

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Prevalence and clinical features of colonic diverticulosis in a Middle Eastern population

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World Journal of Gastrointestinal Endoscopy 2013年第8期5卷 391-397页

作者： Nahla Azzam Abdulrahman M Aljebreen Othman Alharbi Majid A Almadi division of Gastroenterology Department of Medicine King Khalid University Hospital King Saud University division of Gastroenterology the McGill University Health Center Montreal General Hospital McGill University

AIM: To determine the prevalence, location, associations and clinical features of colonic-diverticulosis and its role as a cause of lower-gastroenterology-bleeding. METHODS: We retrospectively reviewed the medical records of 3649 consecutive patients who under-went a colonoscopy for all indications between 2007 and 2011 at King Khalid University Hospital, Riyadh, Saudi Arabia. The demographic data were collected retrospectively through the hospital's information system, electronic file system, endoscopic e-reports, and manual review of the files by two research assistants. The demographic information included the age, sex, comorbidities and indication for the colonoscopy. The association among colonic polyps, comorbidities and diverticular disease was also ***: A total of 270 patients out of 3649 were diagnosed with colonic diverticulosis, with a prevalence of 7.4%. The mean age was 60.82 years ± 0.833, (range 12-110). Females comprised 38.89% (95%CI: 33-44.7) of the study population. The major symp-toms were rectal bleeding in 33.6%, abdominal pain in 19.3%, constipation in 12.8% and anemia in 6%. Diverticula were predominantly left-sided (sigmoid and descending colon) in 62%, right-sided in 13% and in multiple locations in 25%. There was an association between the presence of diverticulosis and adenomatous polyps (Pvalue rectal bleeding (OR = 2.57; 95%CI: 1.50-4.38), and per year increment in age (OR = 1.05; 95%CI: 1.03-1.07) were associated with diverticulosis but not with bleeding diverticular disease. Limitations: A small proportion of the patients included had colo-noscopies performed as a screening ***

关键词： colonic diverticulosis Diverticular disease Saudi Arabia Prevalence Lower gastrointestinal bleeding Epidemiology

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Stool DNA-based versus colonoscopy-based colorectal cancer screening: Patient perceptions and preferences

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Family Medicine and Community Health 2015年第3期3卷 2-8页

作者： Matthew V.Abola Todd F.Fennimore Marcia M.Chen Zhengyi Chen Ashutosh K.Sheth Gregory Cooper Li Li Department of Family Medicine and Community Health Case Western Reserve University School of Medicine11001 Cedar AvenueSuite 200ClevelandOH 44106USA division of Gastroenterology University Hospitals Case Medical Center11100 Euclid AvenueClevelandOH 44106USA Case Comprehensive Cancer Center Case Western Reserve University School of Medicine10900 Euclid AvenueClevelandOH 44106USA Swetland Center for Environmental Health Case Western Reserve University11000 Cedar AvenueSuite 402ClevelandOH 44106USA

Objective:Stool DNA(sDNA)tests offer a noninvasive form of colon cancer screening for pa-tients,and although the test is expected to increase uptake of colon cancer screening,it is unknown if patients’perceptions of the sDNA test differ according to race and other patient ***:We conducted a self-administered survey of patients undergoing both a colonoscopy and an sDNA test to evaluate perceptions of sDNA ***:Of the 613 participants who were sent surveys,423 responded(69%response rate).Respondents self-identified as African American(n=127,30%),Caucasian(n=284,67%),and other ethnicity(n=12,3%).In general,participants found the sDNA test more suitable than a colonos-copy(n=309,75%).In univariate analyses,a higher percentage of Caucasians as compared with African Americans found the sDNA test more suitable than a colonoscopy(89%vs.76%,prectal cancer remains a significant factor for patient’s preferences for screening regardless of ***:Our study shows no racial differences in the perception of and preference for sDNA testing for colon *** to increase the uptake of sDNA testing may help reduce racial disparities in colorectal cancer.

关键词： colon cancer screening race stool DNA test patient perceptions

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STARD1:a new rising StAR in cholesterol-mediated hepatocarcinogenesis

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Hepatobiliary surgery and Nutrition 2021年第6期10卷 910-912页

作者： Salvatore Papa Concetta Bubici Wing-Kin Syn Leeds Institute of Medical Research at St.James’ Faculty of Medicine and HealthUniversity of LeedsSt.James’University HospitalLeedsUK Centre for Genome Engineering and Maintenance Department of Life SciencesCollege of HealthMedicine and Life SciencesBrunel University LondonUxbridgeUK division of Gastroenterology and Hepatology Medical University of South CarolinaCharlestonSCUSA Section of Gastroenterology Ralph H.Johnson Veterans Affairs Medical CenterCharlestonSCUSA Department of Physiology Faculty of Medicine and NursingUniversity of the Basque CountryUniversidad del Pais Vasco/Euskal Herriko Unibertsitatea(UPV/EHU)LeioaSpain

Having cholesterol in our body is essential for living healthy,but too much can lead to serious health problems,including-but not limited to-heart attacks and strokes(1).Indeed,accumulating evidence points to cholesterol as a cancer risk factor especially in colon,rectal,prostatic and testicular cancer(2).Cholesterol is the most abundant sterol in animal tissues with many important functions that spans from simply maintaining cell membrane physical properties to the production of bile acids and biosynthesis of steroid *** the most part,cholesterol is synthetised de novo in the liver,but some is obtained from dietary *** synthesis of cholesterol takes place in the cytoplasm and the endoplasmic reticulum(ER)of hepatocytes(the major liver cell types)and starts with one molecule of acetyl-CoA.

关键词： cholesterol intake cancer

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初级保健中恶性肿瘤早期诊断的预警症状:运用全科医疗机构研究数据库进行的队列研究

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英国医学杂志中文版 2007年第5期10卷 276-283页

作者： Roger Jones Radoslav Latinovi Judith Charlton Martin C Gulliford 张国庆 Department of General Practice and Primary Care Division of Health and Social Care ResearchKing's College London School of Medicine at Guy'sKing's College and St Thomas'HospitalsLondon SE16SP Wolfson professor of general practice Department of Public Health Sciences Division of Health and Socia Care ResearchKing's College London School of Medicine at Guy'sKing's College and St Thomas'HospitalsLondon SE13QD dotabase manager research assistant senior lecturer in public health

目的根据初级保健中的研究,评价在大规模人群中预警症状与随后的恶性肿瘤诊断之间的关系。设计队列研究。地点英国全科医疗机构研究数据库。患者 1994至2000年间在英国128家全科医疗机构注册的762325名年龄在15岁及以上的患者。既往无... 详细信息

目的根据初级保健中的研究,评价在大规模人群中预警症状与随后的恶性肿瘤诊断之间的关系。设计队列研究。地点英国全科医疗机构研究数据库。患者 1994至2000年间在英国128家全科医疗机构注册的762325名年龄在15岁及以上的患者。既往无恶性肿瘤病史,首次出现血尿、咯血、吞咽困难或直肠出血症状。结局评估指标首次出现的血尿、咯血、吞咽困难或直肠出血症状,自症状出现3年内,在泌尿道、呼吸道、食管、结肠以及直肠等部位恶性肿瘤诊断中的阳性预测值。同时评价其似然比和敏感性。结果在11108名首发血尿患者中,有472名男性和162名女性新近诊断泌尿道恶性肿瘤,总的3年阳性预测值男性为7.4%(95%可信区间为6.8%～8.1%),女性为3.4%(2.9%～4.0%)。在4812名首发咯血患者中,有220名男性(阳性预测值7.5%,6.6%～8.5%)和81名女性(4.3%,3.4%～5.3%)诊断呼吸道恶性肿瘤。5999名首次出现吞咽困难的患者中,食管恶性肿瘤诊断在男性有150人(阳性预测值5.7%,4.9%～6.7%),女性有81人(2.4%,1.9%～3.0%)。在15289名首发直肠出血症状的患者中,则有184名男性(阳性预测值2.4%,2.1%～2.8%)和154名女性(2.0%,1.7%～2.3%)诊断结直肠恶性肿瘤。预测值随着患者年龄的增加而增加,而且值非常高,例如,年龄在75～84岁的男性咯血患者(17.1%,13.5%～21.1%)和年龄在65～74岁的男性吞咽困难患者(9.0%,6.8%～11.7%)。结论首次出现预警症状时恶性肿瘤诊断可能性增加,尤其在男性及年龄大于65岁的患者人群中。这些数据显示,对于预警症状进行早期评价有助于在早期或易于处理的阶段发现或鉴别恶性肿瘤。

关键词：恶性肿瘤诊断肿瘤早期诊断出血症状医疗机构队列研究初级保健数据库预警

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体力活动对结直肠癌发病影响的重庆地区大样本病例-对照研究

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第三军医大学学报 2005年第22期27卷 2276-2279页

作者：马恒太余佩武葛海燕刘宝华刘晋祎刘胜学周艳虹黄萍 Toshiro Takezaki Kazuo Tajima 曹佳第三军医大学军事预防医学院卫生毒理学教研室重庆400038 第三军医大学西南医院普通外科重庆400038 新桥医院普通外科重庆400037 大坪医院野战外科研究所普通外科重庆400042 division of Epidemiology and Prevention Aichi Cancer Center Research InstituteNago-yaJapan464-8681

目的研究重庆地区人群结直肠癌发病危险与体力活动之间的关系.方法进行院内病例-对照研究,478名有效病例和838名对照均选自于2002年1月至2004年6月在第三军医大学3所附属医院住院治疗的重庆本地居民患者,并按年龄相差5岁以内、性别和居... 详细信息

目的研究重庆地区人群结直肠癌发病危险与体力活动之间的关系.方法进行院内病例-对照研究,478名有效病例和838名对照均选自于2002年1月至2004年6月在第三军医大学3所附属医院住院治疗的重庆本地居民患者,并按年龄相差5岁以内、性别和居住地相同的条件进行配对.采用条件逻辑回归方法计算OR值,表示与疾病危险性的关联程度.结果重体力/极重体力劳动使直肠癌的危险显著增加(OR=1.49,95%CI:1.03～2.17),对结肠癌没有显著影响.而每日保持适当的直立活动时间(2～5 h/d)避免久坐(卧)则对直肠癌有显著保护效应 (OR=0.6,95%CI:0.36～0.99).10年前的体重指数、锻炼频率、睡眠时间等因素对直肠癌或结肠癌均无显著影响.结论体力活动程度对结直肠癌尤其是直肠癌的发病可能存在不同影响.

关键词：体力活动结直肠癌

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