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Natural history of children with mild Crohn’s disease

World Journal of Gastroenterology 2019年第30期25卷 4235-4245页

作者： Yamini Sharma Athos Bousvaros Enju Liu Julia Bender Stern Department of Gastroenterology and Hepatology Inflammatory Bowel Disease Center Boston Children’s Hospital

BACKGROUND There is a small and poorly studied population of patients with mild and limited Crohn’s disease(CD),who either spontaneously enter remission and can discontinue therapy,or be maintained on milder anti-inflammatory *** To identify a group of children with mild CD who were not escalated to immunomodulators(azathioprine,mercaptopurine,or methotrexate)or biologics(infliximab or adalimumab)within the first two years after their Crohn’s diagnosis and outline the natural history and phenotypic features of these *** In a retrospective chart review of the inflammatory bowel disease database at Boston Children’s Hospital we reviewed all the mild CD patient’s clinic visits,laboratory studies,and procedures for the duration of time they were followed at the *** were included if they had clear diagnosis of Crohn’s disease,and they were not escalated to immunosuppressive therapies for at least 2 years after the date of *** mild CD patients were compared to controls diagnosed at a similar time,that were treated with immunomodulators or *** that was abstracted included:Age at diagnosis,sex,disease location utilizing the Paris classification,medical treatment,surgical treatment,endoscopic findings,histology,and *** also analyzed differences in the phenotypic features between those with mild CD and those with moderate to severe *** Out of 1205 patients with CD diagnosed between 1990 and 2013,we identified 29 patients that met the inclusion criteria,and they were matched with 58 *** were no significant differences between the disease behaviors at presentation,with approximately 90%of patients in each group having inflammatory ***,patients with mild disease were more likely to have disease limited to the colon(31%vs 12%,P=0.03).In contrast,patients with moderate to severe disease(aka control group)were more likely to have ileocolonic disease(70%vs 45%in the mild grou

关键词： Crohn’s disease Colitis Aminosalicylates Antibiotics Immunosuppression Inflammatory bowel disease Child Pediatric

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Retinal nerve fiber layer changes based on historic CD4 nadir among HIV positive patients undergoing glaucoma evaluation

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International Journal of Ophthalmology(English edition) 2019年第5期12卷 789-794页

作者： Sarah H.Van Tassel Paul Petrakos Elizabeth Marlow Elizabeth Mauer Harjot K.Singh Anna M.Demetriades Department of Ophthalmology Weill Cornell Medicine Division of Biostatistics and Epidemiology Department of Healthcare Policy & ResearchWeill Cornell Medicine Division of Infectious Disease New York-Presbyterian Hospital/Weill Cornell Medicine

AIM: To determine relationships between retinal nerve fiber layer(RNFL) thickness and nadir CD4 cell count in human immunodeficiency virus(HIV) positive patients evaluated for glaucoma ***: Data were reviewed for 329 HIV positive patients evaluated for glaucoma suspicion. High-definition optical coherence tomography(OCT) RNFL measurements were obtained at least 6 mo apart. Analyses were performed to identify relationships between nadir CD4 count and RNFL ***: Totally 110 eyes of 55 patients met inclusion criteria, of which 46 eyes were from subjects with nadir CD4119.7±18.6 μm) and temporal(63.8±11.7 μm) quadrants at time of initial OCT compared to the superior(112.8±16.8 μm, P=0.048) and temporal(57.1±11.9 μm, P=0.004) quadrants of patients with higher nadir CD4. This trend toward thicker RNFL among subjects with lower nadir CD4 cell counts persisted at the time of follow up OCT where participants with nadir CD4117.9±18.3 μm and 63.8±12.8 μm, respectively, compared to a superior thickness of 110.5±16.9 μm(P=0.034) and temporal thickness of 57.3±11.6 μm(P=0.007) among those with higher nadir CD4. CONCLUSION: Patients with lower nadir CD4 cell counts have thicker RNFL in the superior and temporal quadrants compared to those with higher nadir CD4 counts. RNFL thickness in HIV positive patients may be affected by historic HIV disease control and should be considered when evaluating HIV positive patients for glaucoma.

关键词： glaucoma glaucoma suspect human immunodeficiency virus retinal nerve fiber layer

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Gaucher disease in Montenegro-genotype/phenotype correlations:Five cases report

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World Journal of Clinical Cases 2019年第12期7卷 1475-1482页

作者： Snezana Vujosevic Sanja Medenica Vesko Vujicic Milena Dapcevic Nikola Bakic Ruhua Yang Jun Liu Pramod K Mistry Department of Endocrinology Internal Medicine Clinic Clinical Center of Montenegro Faculty of Medicine University of Montenegro Podgorica 81000 Montenegro Hematology Department Internal Medicine Clinic Clinical Center of Montenegro Faculty of Medicine University of Montenegro Podgorica 81000 Montenegro Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease Clinic Yale University School of Medicine New Haven CT 06510 United States

BACKGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The report targets clinical phenotypes of GD in order to correlate them with GBA gene mutations, as well as to identify GBA gene mutation in patients in Montenegro that are diagnosed with GD. CASES SUMMARY Five patients (4 male, 1 female) of type 1 GD (GD1) are reported. The age at diagnosis ranged from 7 to 40. Patients experienced delays of 1-12 years in diagnosis after the original onset of symptoms. The most common mode of presentation was a variable degree of splenomegaly and thrombocytopenia, while other symptoms included bone pain, hepatomegaly, abdominal pain and fatigue. Osteopenia was present in a majority of the patients: 4/5. All patients were found to have an asymptomatic Erlenmeyer flask deformity of the distal femur. On enzyme replacement therapy (ERT), the hematological and visceral parameters showed significant improvement, but no significant progression in bone mineral density was noticed. GBA gene sequencing revealed homozygosity for the N370S mutation in one patient. The genotypes of the other patients were N370S/55bp deletion, N370S/D409H (2 patients), and H255Q/N370S (1 patient). CONCLUSION The phenotypes of the GD1 encountered in Montenegro were severe but all responded well to ERT.

关键词： Gaucher disease Lysosomal storage disorder Glucocerebrosidase GBA gene sequencing Genotype Case report

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Assessing the Effectiveness of Strategies in US Birth Cohort Screening for Hepatitis C Infection

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Journal of Clinical and translational Hepatology 2020年第1期8卷 25-41页

作者： Cynthia J.Tsay Joseph K.Lim Department of Internal Medicine Yale University School of MedicineNew HavenCTUSA Yale Liver Center Section of Digestive DiseasesYale University School of MedicineNew HavenCTUSA

Chronic hepatitis C infection in the USA is a highly morbid condition and current guidelines recommend one-time screening among the birth cohort(1945-1965).Understand-ing strategies to optimize screening can help inform future hepatitis C virus(HCV)screening guidelines.A focused literature search was performed using PubMed and manual abstract review from major hepatology conferences over the past 2 *** search strategy involved using Medical Subject Headings terms for hepatitis C,screening,birth cohort,baby boomers,and *** review was limited to data from the USA.A total of 327 articles were identified and 36 abstracts were included,with studies published between *** including clinician education,electronic medical record alerts,reflex HCV RNA testing,point-of-care testing,multisite(outpatient,inpatient,emergency department,endoscopy suite)initiatives,direct patient solicitation,and utilization of non-physician providers have increased HCV screening ***,broad imple-mentation remains less than *** include lack of patient acceptance to screening and engagement in the HCV care *** Veterans Affairs Healthcare System has achieved higher birth cohort screening rates through an integrated approach requiring high-level engagement by leadership and institutional *** strategies for increasing birth cohort screening have been successful,but overall rates of HCV screening remain *** strat-egies can inform public health efforts to implement emerging national recommendations for expansion of HCV screening to all *** age 18 or older.

关键词： Hepatitis C Epidemiology HCV antibody Screening Birth cohort Baby boomers Care cascade Electronic medical records

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Biliary strictures:diagnostic considerations and approach

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Gastroenterology Report 2015年第1期3卷 22-31页

作者： Ajaypal Singh Andres Gelrud Banke Agarwal Center for Endoscopic Research and Therapeutics Division of GastroenterologyUniversity of Chicago Medical CenterChicagoILUSA Division of Gastroenterology and Hepatology Saint Louis University School of Medicine.St.LouisMOUSA

Biliary strictures present a diagnostic challenge,especially when no etiology can be ascertained after laboratory evaluation,abdominal imaging and endoscopic retrograde cholangiopancreatography(ERCP)*** strictures were traditionally classified as indeterminate strictures,although with advances in endoscopic techniques and better understanding of hepato-biliary pathology,more are being correctly *** implications of missing a malignancy in patients with biliary strictures—and hence delaying surgery—are grave but a significant number of patients(up to 20%)undergoing surgery for suspected biliary malignancy can have benign *** diagnostic approach to these patients involves detailed history and physical examination and depends on the presence or absence of jaundice,level of obstruction,and presence or absence of a mass *** abdominal imaging helps to find the level of obstruction and provides a‘road map’for further endoscopic investigations,tissue diagnosis is usually needed to make decisions on *** ERCP was the only modality to investigate these strictures but now,with the development of endoscopic ultrasound with fine needle aspiration and the availability of newer techniques such as intraductal ultrasound,single-operator cholangioscopy and confocal laser endomicroscopy,the diagnostic approach to biliary strictures has changed *** this review,we will focus on the decision-making process for patients with biliary strictures and discuss the key decision points that should dictate further diagnostic investigations at each step.

关键词： biliary stricture endoscopic ultrasound endoscopic retrograde cholangiopancreatography magnetic resonance cholangio-pancreatography intraductal ultrasound cholangioscopy

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Calcifying fibrous tumor of the gastrointestinal tract: A clinicopathologic review and update

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World Journal of Gastroenterology 2020年第37期26卷 5597-5605页

作者： Donald Turbiville Xuchen Zhang Department of Pathology Yale University School of MedicineNew HavenCT 06510United States

Calcifying fibrous tumor(CFT)is a rare mesenchymal lesion that has been documented throughout the gastrointestinal *** CFTs may occur at virtually any age,with a predilection for adults and for *** occur most commonly in the stomach and the small and large *** are most often found incidentally,cured by local resection,and have a low risk of *** shows three characteristic features:Spindle cell proliferations within a densely hyalinized stroma,scattered calcifications,and lymphoplasmacytic *** are immunoreactive for CD34,vimentin and factor XIIIa,helping to distinguish them from other benign mesenchymal *** differential diagnosis of CFTs includes sclerosing gastrointestinal stromal tumor,leiomyoma,schwannoma,solitary fibrous tumor,inflammatory myofibroblastic tumor,plexiform fibromyxoma,fibromatosis,sclerosing mesenteritis,and reactive nodular fibrous *** pathogenesis of CFTs remains unclear,but some have hypothesized that they may be linked to IgG4-related disease,inflammatory myofibroblastic lesions,hyaline vascular type Castleman disease,sclerosing angiomatoid nodular transformation of the spleen,or trauma.

关键词： Calcifying fibrous tumor Calcifying fibrous pseudotumor Gastrointestinal tract Mesenchymal lesion Calcification Pathology

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基线舒张压对标准降压和强化降压效果的影响

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中华高血压杂志 2017年第12期25卷 1182-1184页

作者： Beddhu S Chertow GM Cheung AK Cushman WC Rahman M Greene T Wei G Campbell RC Conroy M Freedman BI Haley WE Horwitz EJ Kitzman DW Lash J Papademetriou V Pisoni R Riessen E Rosendorff C Watnick SG Whittle J Whelton PK Medical Service Veterans Affairs Salt Lake City Health Care System UT (S.B. A.K.C.) Division of Nephrology and Hypertension (S.B. A.K.C. G.W.) Division of Biostatistics (T.G.) Division of General Internal Medicine (M.C.) University of Utah School of Medicine Salt Lake City. Stanford University Palo Alto CA (G.M.C.) Veterans Affairs Medical Center Memphis TN (W.C.C.) Case Western Reserve University Cleveland OH (M.R. E.H.) Medical University of South Carolina Charleston (R.C.C. R.P.) Section on Nephrology (B.I.F.) Section on Cardiology (D.K.) Wake Forest School of Medicine Winston-Salem NC. Division of Nephrology and Hypertension Mayo Clinic Jacksonville FL (W.H.) Metrohealth Medical Center Cleveland OH (E.H.) University of Illinois at Chicago IL (J.L.) Division of Cardiology Veterans Administration Medical Center Washington DC (V.P.) Ralph H. Johnson VA Medical Center Charleston SC (R.P.) Intermountain Medical Center Murray UT (E.R.) Icahn School of Medicine at Mount Sinai New York NY (C.R.) Oregon State Health University Portland (S.G.W.) Primary Care Division Clement J. Zablocki VA Medical Center Milwaukee WI (J.W.) Tulane University School of Public Health and Tropical Medicine New Orleans LA (P.K.W.).

血压升高是心血管病、终末期肾病（end—stage kidney disease，ESKD）和全因死亡的一个重要危险因素。自20世纪60年代开始，随机对照试验证明了治疗高舒张压，随后又证明了治疗高收缩压的价值。

关键词：降压效果舒张压标准基线随机对照试验终末期肾病心血管病血压升高

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Upper esophageal sphincter abnormalities are strongly predictive of treatment response in patients with achalasia

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World Journal of Clinical Cases 2014年第9期2卷 448-454页

作者： Simon C Mathews Maria Ciarleglio Yamile Haito Chavez John O Clarke Ellen Stein Bani Chander Roland Department of Medicine Johns Hopkins University School of MedicineBaltimore MD 21224 United States School of Public Health Yale UniversityNew Haven CT 06520 United States Division of Gastroenterology and Hepatology Johns Hopkins University School of MedicineBaltimore MD 21224 United States

AIM: To investigate the relationship between upper esophageal sphincter abnormalities achalasia treatment METHODS: We performed a retrospective study of 41 consecutive patients referred for high resolution esophageal manometry with a final manometric diagnosis of achalasia. Patients were sub-divided by presence or absence of Upper esophageal sphincter(UES) abnormality, and clinical and manometric profiles were *** between UES abnormality and sub-type(i.e.,hypertensive, hypotensive or impaired relaxation) and a number of variables, including qualitative treatment response, achalasia sub-type, co-morbid medical illness,psychiatric illness, surgical history, dominant presentingsymptom, treatment type, age and gender were also ***: Among all 41 patients, 24(58.54%) had a UES abnormality present. There were no significant differences between the groups in terms of age, gender or any other clinical or demographic profiles. Among those with UES abnormalities, the majority were either hypertensive(41.67%) or had impaired relaxation(37.5%) as compared to hypotensive(20.83%), although this did not reach statistical significance(P = 0.42). There was no specific association between treatment response and treatment type received; however, there was a significant association between UES abnormalities and treatment response. In patients with achalasia and concomitant UES abnormalities, 87.5% had poor treatment response, while only 12.5% had favorable response. In contrast, in patients with achalasia and no UES abnormalities, the majority(78.57%) had good treatment response, as compared to 21.43% with poor treatment response(P = 0.0001). After controlling for achalasia sub-type, those with UES abnormality had 26 times greater odds of poor treatment response than those with no UES abnormality(P = 0.009). Similarly, after controlling for treatment type, those with UES abnormality had 13.9 times greater odds of poor treatment response compared to those w

关键词： Upper esophageal sphincter Achalasia Motility Dysphagia Esophageal disorders

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A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus

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International Journal of Ophthalmology(English edition) 2016年第9期9卷 1367-1370页

作者： Ungsoo Samuel Kim Eunhae Cho Hyon J.Kim Department of Ophthalmology Kim's Eye Hospital Seoul 07301 Korea Department of Ophthalmology Konyang University College of Medicine Daejeon 35365 Korea Green Cross Genome Yongin Kyunggi-do16903 Korea Department of Medicine Genetics Konyang University College of Medicine Daejeon 35365 Korea

Dear Editor,I am *** Samuel *** Kim＇s Eye Hospital,Konyang University,Seoul,Korea.I write to present a novel mutation of GPR143 in Korean patients with X-linked congenital nystagmus by using exome *** nystagmus is an... 详细信息

关键词： GPR A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus gene

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Colon cancer and the epidermal growth factor receptor:Current treatment paradigms,the importance of diet,and the role of chemoprevention

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World Journal of Clinical Oncology 2015年第5期6卷 133-141页

作者： Baldeep Pabla Marc Bissonnette Vani J Konda Center of Endoscopic Research and Therapeutics Section of Gastro- enterologyDepartment of MedicineKnapp Center for Biomedical Discoverythe University of Chicago Medicine

Colorectal cancer represents the third most common and the second deadliest type of cancer for both men and women in the United States claiming over 50000 lives in 2014. The 5-year survival rate for patients diagnosed with metastatic colon and rectal cancer is 15%. Early detection and more effective treatments are urgently needed to reduce morbidity and mortality of patients afflicted with this disease. Here we will review the risk factors and current treatment paradigms for colorectal cancer, with an emphasis on the role of chemoprevention as they relate to epidermal growth factor receptor(EGFR) blockade. We will discuss how various EGFR ligands are upregulated in the presence of Western diets high in saturated and N-6 polyunsaturated fats. We will also outline the various mechanisms of EGFR inhibition that are induced by naturally occurring chemopreventative agents such as ginseng, green tea, and curcumin. Finally, we will discuss the current role of targeted chemotherapy in colon cancer and outline the limitations of our current treatment options, describing mechanisms of resistance and escape.

关键词： Chemoprevention Colon cancer Epidermal growth factor receptor Western diet Curcumin Green tea Ginseng

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