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Cytosolic 5’-nucleotidaseⅡlike 1（NT5C2L1） gene sequence variation and functional genomics:cytosine arabinoside and gemcitabine pharmacogenetics

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Cytosolic 5’-nucleotidaseⅡlike 1（NT5C2L1） gene sequence ...

Torsion of the spermatic cord in adults:a multicenter experience in adults with surgical exploration for acute scrotal pain with suspected testicular torsion

中国生理学会第23届全国会员代表大会暨生理学学术大会

作者： pinar Aksoy Krishna R.Kalari Irene Moon Linda L.Pelleymounter Bruce W Eckloff Eric D.Wieben Richard M.Weinshilboum Department of Molecular Pharmacology and Experimental Therapeutics Department of Biochemistry and Molecular Biology Mayo Clinic RochesterMNUSA

＜正＞Background:5’-Nucleotidases play a critical role in nucleotide pool balance and the metabolism of nucleoside analogs such as gemcitabine and cytosine arabinoside（AraC）.Previously study performed an expression array association study with gemcitabine and AraC cytotoxicity using 288 human lymphoblastoid cell lines. One gene that was significantly associated with gemcitabine cytotoxicity was a nucleotidase family member,NT5C2L1. Very little is known with regard to the pharmacogenomics of this ***:We set out to identify common genetic variation in NT5C2L1 by resequencing the gene and to determine the effect of that variation on NT5C2L1 protein function and response to cytidine *** resequencing 288 ethnically defined DNA samples,we identified 61 NT5C2L1 polymorphisms,41 of which were *** studies were performed with four nonsynonymous（Gly152Asp,Ile162Val,Asn210Ile,Asn432Ser） and 2 synonymous cSNPs（G112A,T25A） as well as NT5C2L1 wild ***:Nucleotidase kinetic analysis showed IMP,CMP,AMP,GMP AraCMP and GemMP were substrates of *** is no phosphotransferase ***5CL21 knockdown made Su86 cell more insistent to the *** variation constructs showed no difference of enzyme activity and protein compare with the wild *** association study between SNPs and NT5C2L1 expression in the 288 cell lines from which DNA was extracted to resequence NT5C2L1 identified 4 SNPs that were significantly associated with NT5C2L1 *** showed that two of those SNPs,13（-25） and 16（112） didn’t alter DNA-protein binding *** findings increase our knowledge of common genetic variation in NT5C2L1 and their effect on *** may also help to shed light on future translational pharmacogenomic studies of nucleoside analog drugs.

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Asian Journal of Andrology 2022年第6期24卷 575-578页

作者： Van Thi Dang Benjamin Pradere Anne Mauger de Varennes Nadia Ali Benali Maxime Vallee William Berchiche Bastien Gondran-Tellier Gaelle Margue Clement Michiels Charles Gaillard Tristan Grevez Florian Bardet Maud Hulin Anthony Manuguerra Ugo pinar Caroline Plassais Margeux Felber William Wandoren Kévin Kaulanjan Ines Dominique Marc Sbizerra Emilien Seizilles de Mazancourt Xavier Matillon Igor Duquesne Maxime Chabenes Victor Gallard Lucas Freton Francois Lannes Zine-Eddine Khene Department of Urology Toulouse University HospitalToulouse 31000France Department of Urology Medical University of ViennaVienna 1090Austria Department of Urology Rennes University HospitalRennes 35000France Department of Urology Poitiers University HospitalPoitiers 86000France Department of Urology Marseille North HospitalMarseille 13000France Department of Urology Bordeaux University HospitalBordeaux 33000France Department of Urology Tours University HospitalTours 37000France Department of Urology Dijon University HospitalDijon 21o00France Department of Urology Reims University HospitalReims 5i000France Department of Urology Nancy University HospitalNancy 54000France Department of Urology Hopitaux Universitaires Pitie-SalpetriereAP-HPParis 75013France Department of Urology Pointe a Pitre University HospitalGuadeloupe 97000France Department of Urology Lyon University HospitalLyon 69000France Department of Urology Cochin HospitalAP-HPParis 75000France Department of Urology Grenoble University HospitalGrenoble 38000France Department of Urology Strasbourg University HospitalStrasbourg 67000France

Acute scrotal pain(AsP)requiring surgical exploration is common in the pediatric population,but little has been reported on this subject with regard to the adult *** aim of this study was to investigate the demographic and clinical characteristics and outcomes of scrotal explorations performed on adult *** over 21 years of age who underwent surgical exploration for ASP with suspected testicular torsion(TT)at 14 French hospitals between January 2005 and December 2019 were included in this *** main outcome measures were demographic characteristics,pathology found during scrotal exploration,and perioperative *** regression was used to perform univariate and multivariate analyses to identify predictors of *** for 1329 men were *** median age was 30(interquartile range[IQR]:25-35;range:21-89)*** the clinical examination,867(65.2%)patients presented with an elevation of the testicle,613(46.1%)patients with scrotal edema or erythema,and 211(15.9%)patients with nausea or *** findings identified TT in only 684(51.5%)patients,epididymo-orchitis in 112(8.4%)patients,a tumor in 16(1.2%)patients,and no causes in 475(35.7%)*** for nonviable testes was required in 101(7.6%)*** multivariate analysis,an elevation of the testicle,erythema/swelling,and the presence of nausea/vomiting were found to be associated with the occurrence of *** torsion is not exclusive to children and adolescents,so must be considered in males of any age with acute scrotal ***,one-third of scrotal explorations in adults did not lead to a diagnosis.

关键词： adults diagnosis exploration scrotal emergencies spermatic cord torsion ultrasonography

Intravitreal drug administration for treatment of noninfectious uveitis

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World Journal of Ophthalmology 2015年第3期5卷 125-132页

作者： Alper Yazici pinar C Ozdal Department of Ophthalmology Bal?kesir University School of Medicine Department of Ophthalmology Ulucanlar Eye Training and Research Hospital

Intravitreal treatment became popular with the discovery of the blood ocular barriers, which significantly limit drug penetration in systemic or topical *** the mainstay of treatment in noninfectious uveitis(NOIU) is still corticosteroids, triamcinolone acetonide(TA) was the first intravitreally used agent in this subset of patients. Although it was very effective in controlling inflammation and improving the inflammation related complications, TA was found to have a high rate of intraocular complications and a relatively short half-life necessitating frequent reinjections. Other systemically used therapeutic options such as methotrexate and anti-tumor necrosis factor-α agents were also tried intravitreally. Additionally anti-vascular endothelial growth factor agents that are widely used intravitreally in the management of diabetic retinopathy and age related macular degeneration have become an option to control the uveitis related complications like macular edema, retinal and choroidal neovascularizations. Advances in biotechnology led to the slow release biodegradable implant era. These implants have a longer duration of action, which may help in decreasing the number of reinjections. Today two forms of implants have been approved for use in NOIU, Retisert(0.59 mg flucinolone acetonide, surgical intervention) and Ozurdex(0.7 mg dexamethasone, office based intervention). Studies dealing with newer agents(cyclosporine, LFG31, sirolimus) in the management of chronic NOIU are on the way. The search for ideal effective, safe and biocompatible intravitreal agents in the management of NOIU has not ended yet.

关键词： Uveitis Intravitreal Steroid Implant

微小血流储备在评估血管造影中度支架内再狭窄的应用

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世界核心医学期刊文摘（心脏病学分册） 2005年第5期1卷 31-32页

作者： Lopez-Palop R. pinar E. Lozano I. 高登峰

The evaluation of in-stent restenosis(ISR) is usually based on angiographic quantification. This evaluation is sometimes difficult and it has not an accurate clinical correlation. Fractional flow reserve(FFR) measured by intracoronary pressure wire has demonstrated its value in determining the functional repercussion of coronary stenosis. The aim of this study was to evaluate the relation between quantitative angiography-FFR in borderline in-stent restenotic lesions and the accuracy of FFR in deciding the treatment of ISR. Quantitative angiographic values of 65 lesions in 62 patients with angiographically moderate ISR are compared with the FFR value obtained by pressure wire. An FFR value < 0.75 was considered significant. Patients with non-revascularized ISR(FFR ≥0.75) were clinically followed during a year. An FFR value ≥0.75 was obtained in 41 lesions(63%), 21 of them with stenosis ≥50%. The co-efficient of correlation between parameters of quantitative angiography and FFR value was < 0.5. No events related to the non-treated lesions were observed. A poor correlation between angiographic quantification and FFR of moderate ISR was found. Conservative management of moderate 40-70%in-stent restenotic lesions with FFR value ≥0.75 is safe avoiding unnecessary revascularizations based solely on the angiography.

关键词：支架内再狭窄血管造影临床相关性血管重建术量化结果金属丝造影术相关系数和中

Capillary refill time as a guide for operational decision-making process of autoimmune pancreatitis:Preliminary results

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World Journal of Gastrointestinal Surgery 2015年第7期7卷 110-115页

作者： pinar Yazici Ismail Ozsan Unal Aydin Department of General Surgery Sisli Etfal Training and Research Hospital Department of General Surgery Izmir UniversityMedical Park Hospital

AIM: To investigate the efficacy of a novel intraoperative diagnostic technique for patients with preliminary diagnosis of autoimmune pancreatitis(AIP).METHODS: Patients with pancreatic surgery were reviewed to identify those who received a preliminary diagnosis of AIP between January 2010 and January 2014. The following data were collected prospectively for patients with a pathological diagnosis of AIP: clinical and demographic features, radiological and operative findings, treatment procedure, and intraoperative capillary refill time(CRT) in the pancreatic ***: Eight patients(six males, two females; mean age: 51.4 years) met the eligibility criteria of pathologically confirmed diagnosis. The most frequent presenting symptoms were epigastric pain and weight loss. The most commonly conducted preoperative imaging studies were computed tomography and endoscopic retrograde pancreaticodoudenography. The most common intraoperative macroscopic observations were mass formation in the pancreatic head and diffuse hypervascularization in the pancreatic bed. All patients showed decreased CRT(median value: 0.76 s, range: 0.58-1.35). One-half of the patients underwent surgical resection and the other half received medical treatment without any further surgical intervention. CONCLUSION: This preliminary study demonstrates a novel experience with measurement of CRT in the pancreatic bed during the intraoperative evaluation of patients with AIP.

关键词： Autoimmune pancreatitis Pancreatic mass Inflammation Hypervascularity Capillary refill time

舌系带过短儿童中舌系带长度与下颌切牙不齐／咬合类型的关系

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中国口腔医学继续教育杂志 2016年第6期19卷 273-277页

作者： Elif Sepet Cagla Yildiz Arzu pinar Erdem Goksen lkikarakayali Feyza Nur Gorken Sinem Kuru 杜静不详南京大学医学院附属口腔医院江苏省南京市鼓楼区中央路30号210009

目的：研究舌系带过短儿童中舌系带长度与下颌切牙不齐、咬合类型之间的关系。材料与方法：本研究包纳了80位舌系带过短的儿童．年龄7～12岁。按Kotlow’s分类法将患者进行分类．测量下颌切牙拥挤度．确定磨牙关系，最后采用Fisher精确... 详细信息

目的：研究舌系带过短儿童中舌系带长度与下颌切牙不齐、咬合类型之间的关系。材料与方法：本研究包纳了80位舌系带过短的儿童．年龄7～12岁。按Kotlow’s分类法将患者进行分类．测量下颌切牙拥挤度．确定磨牙关系，最后采用Fisher精确概率检验和卡方检验来进行统计学分析．利用Pearson相关系数法进行相关性检验。结果：在80名患儿中．45名（56．3％）为轻度舌系带过短．23名（28.8％）为中度舌系带过短．12名（15％）为重度舌系带过短。其中，59名（73．8％）患儿为轻度牙列不齐．18名（22.5％）为中度牙列不齐．3名（38％）为重度牙列不齐：56名（70％）为安氏Ⅰ类咬合．17名（21.3%）为安氏Ⅱ类咬合，7名（8．8％）为安氏Ⅲ类咬合。因此．在伴下切牙不齐的舌系带过短患者中．不同舌系带长度和咬合类型之间无显著相关性．但舌系带的长度和下切牙不齐呈显著正相关。此外．舌系带长度／下切牙不齐与年龄之间均呈显著正相关。结论：轻度及中度舌系带过短与下切牙不齐、咬合类型之间无明显相关性。

关键词：舌系带过短牙列不齐咬合类型

The joint automated repository for various integrated simulations (JARVIS) for data-driven materials design

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npj Computational Materials 2020年第1期6卷 234-246页

作者： Kamal Choudhary Kevin F.Garrity Andrew C.E.Reid Brian DeCost Adam J.Biacchi Angela R.Hight Walker Zachary Trautt Jason Hattrick-Simpers A.Gilad Kusne Andrea Centrone Albert Davydov Jie Jiang Ruth Pachter Gowoon Cheon Evan Reed Ankit Agrawal Xiaofeng Qian Vinit Sharma Houlong Zhuang Sergei V.Kalinin Bobby G.Sumpter Ghanshyam Pilania pinar Acar Subhasish Mandal Kristjan Haule David Vanderbilt Karin Rabe Francesca Tavazza Materials Measurement Laboratory National Institute of Standards and TechnologyGaithersburgMD 20899USA Theiss Research La JollaCA 92037USA Department of Chemistry and Biochemistry University of MarylandCollege ParkMD 20742USA Physical Measurement Laboratory National Institute of Standards and TechnologyGaithersburgMD 20899USA Materials and Manufacturing Directorate Air Force Research LaboratoryWright–Patterson Air Force BaseDaytonOH 45433USA Department of Materials Science and Engineering Stanford UniversityStanfordCA 94305USA Department of Electrical and Computer Engineering Northwestern UniversityEvanstonIL 60208USA Department of Materials Science and Engineering Texas A&M UniversityTexasTX 77843USA Joint Institute for Computational Sciences University of TennesseeKnoxvilleTN 37996USA National Institute for Computational Sciences Oak Ridge National LaboratoryOak RidgeTN 37831USA School for Engineering of Matter Transport and Energy Arizona State UniversityTempeAZ 85287USA Center for Nanophase Materials Sciences Oak Ridge National LaboratoryOak RidgeTN 37831USA Materials Science and Technology Division Los Alamos National LabLos AlamosNM 87545USA Department of Mechanical Engineering Virginia TechBlacksburgVA 24061USA Department of Physics and Astronomy Rutgers UniversityPiscatawayNJ 08901USA

The Joint Automated Repository for Various Integrated Simulations(JARVIS)is an integrated infrastructure to accelerate materials discovery and design using density functional theory(DFT),classical force-fields(FF),and machine learning(ML)*** is motivated by the Materials Genome Initiative(MGI)principles of developing open-access databases and tools to reduce the cost and development time of materials discovery,optimization,and deployment.

关键词： automated JAR databases

The common pentanucleotide polymorphism of the 3’-untranslated region of the leptin receptor gene is associated with obesity in Saudi females

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Health 2013年第2期5卷 285-291页

作者： Maha H. Daghestani Mazin H. Daghestani pinar T. Ozand Ahmed R. Al-Himaidi Mamoon H. Daghestani Nadia A. Aleisa Hana H. Hakami Abdelmoneim Eldali Ali N. Al-odaib Biostatistics Epidemiology & Scientific Computing (MBC-03) King Faisal Specialist Hospital and Research Center Riyadh KSA Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh KSA Department of Obstetrics & Gynecology Umm-Al-Qura University Makkah KSA Department of Surgery King Abdulaziz Medical City National Guard Health Affairs Jeddah KSA Department of Zoology Center for Scientific and Medical Female Colleges King Saud University Riyadh KSA Department of Zoology Science College King Saud University Riyadh KSA Duzen Laboratories Istanbul Turkey

Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. Leptin receptor (LEPR) gene has been intensively evaluated in the search of variants that could be related to obesity. The results of most of these studies have been controversial. We investigated the effects of leptin receptor gene 3’-untranslated region (3’-UTR) polymorphism on phenotype, metabolic parameters and anthropometric measurements of obese Saudi females. 122 healthy women aged 19 to 36 years. The subjects were divided into 3 groups according to their body mass index BMI;lean (BMI 18 - 24), overweight (BMI 25 - 29) and obese (BMI ≥ 30). There were 13 homozygotes and 34 heterozygotes for the 3’-UTR insertion allele amongst all 122 women. The results of this study show that the allele frequency of the insertion allele (I) of 3’UTR was significantly higher in overweight (35.3) and obese females (32.2) compared to the frequency in lean females (15.6). The insertion allele was associated with increased BMI in obese groups. The results obtained from this study indicated that in the obese subjects most variable values increased in I/I homozygote but the significant high value recorded among BMI (40.9 ± 7.11 kg/m2, P = 0.042). Our findings indicated that, the obesity in Saudi females is influenced by alteration in the leptin receptor gene 3’-UTR polymorphism.

关键词： Pentanucleotide Polymorphism Leptin Obesity Saudi Females

Laparoscopic appendectomy for appendiceal mucocele in an 83 years old woman

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World Journal of Gastrointestinal Surgery 2013年第6期5卷 207-209页

作者： Cemal Kaya pinar Yazici Sinan Omeroglu Mehmet Mihmanli Department of General Surgery Sisli Etfal Training and Research Hospital

Mucocele of the appendix is an uncommon but potentially dangerous pathological entity that presents in a variety of ***,optimal surgical therapy is controversial;while some authors adopt a simple appendectomy,others recommend extensive resection,such as right *** report the case of an 83 years old woman who presented with cystic neoformation in the right iliac fossa that was preoperatively considered an appendiceal *** electively performed a laparoscopic resection that histological examination defined as a mucinous *** recurrence was observed in the follow-up period of 9 mo.

关键词： Appendiceal tumor Laparoscopy Mucocele Minimal invasive surgery