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Newborn screening for remethylation disorders and vitamin deficiency-evaluation of new strategies in cohorts from Qatar and Germany

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World Journal of Pediatrics 2017年第2期13卷 136-143页

作者： Gwendolyn Gramer Ghassan Abdoh Tawfeg Ben-Omran Noora Shahbeck Rehab Ali Laila Mahmoud Junmin Fang-Hoffmann Georg F.Hoffmann Hilal Al rifai Jürgen G.Okun University Hospital Heidelberg Center for Pediatric and Adolescent MedicineDivision of Neuropediatrics and Metabolic MedicineHeidelbergGermany Department of Pediatrics Hamad Medical CorporationDohaQatar

Background:Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency).Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from ***:A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine,methionine-phenylalanine-ratio and propionylcarnitine as *** cnt-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and ***:Over a 12 months period,the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%,while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for *** the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one patient with an isolated remethylation *** retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cutoffs used in the proposed new *** addition,an adapted strategy for Germany using methionine,methionine-phenylalanine-ratio and propionylcarnitine as first-tier,and homocysteine as a second-tier test was also positively evaluated ***:The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency

关键词： classical homocystinuria newborn screening remethylation disorders second-tier vitamin B12 deficiency

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Evaluation of Coagglutination Test Kit for Red Sea Bream Iridovirus

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Journal of Agricultural Science and Technology(B) 2015年第6期5卷 437-440页

作者： Surya Amanu Achmad Bahtiar rifai Lina Yulianah Pramudya Dwiwahyu Department of Microbiology Faculty of Veterinary Medicine Gadjah Mada University Yogyakarta 560862 Indonesia Fish Quarantine and Inspection Agency Batam 29464 Indonesia

Coagulation test, in principle, is an immunodiagnostics technique, in which immunoglobuline G of antibody is bound to protein A from Staphylococcus aureus. The aim of study is to develop a rapid test kit for detecting iridovirus infection in fish. Method was summarized as follows：（1） vaccine of iridovirus was injected to rabbit four times with a dosage as 0.5 mL, 1 mL, 2mL, 3 mL each week. Serum was collected at the fifth week as a coagglutination test kit; （2） through the positif polymerase chain reaction （PCR） test, the kidney and spleen sample infected with iridovirus are homogenized by using the phosphate buffered saline （PBS） solution of pH 7.2 with ratio 1：2 （WN）; （3） the supernatant material is collected after centrifugation at 8,000 rpm for 15 min; （4） filtrate/supernatant from sample was dropped on a slide an added with coagglutination test kit with the same volume （l：l）; （5） the agglutination observation is done after the 30, 60 and 90 min incubate at room temperature. The coagglutination test gave positive result in 25% of the test samples.

关键词： Diagnostics coagglutination test kit iridovirus.

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Medium Term Load Forecasting for Jordan Electric Power System Using Particle Swarm Optimization Algorithm Based on Least Square Regression Methods

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Journal of Power and Energy Engineering 2017年第2期5卷 75-96页

作者： Mohammed Hattab Mohammed Ma’itah Tha’er Sweidan Mohammed rifai Mohammad Momani Electrical Power Engineering Department Yarmouk University Irbid Jordan Electrical Engineering Department The Hashemite University Zarqa Jordan

This paper presents a technique for Medium Term Load Forecasting (MTLF) using Particle Swarm Optimization (PSO) algorithm based on Least Squares Regression Methods to forecast the electric loads of the Jordanian grid for year of 2015. Linear, quadratic and exponential forecast models have been examined to perform this study and compared with the Auto Regressive (AR) model. MTLF models were influenced by the weather which should be considered when predicting the future peak load demand in terms of months and weeks. The main contribution for this paper is the conduction of MTLF study for Jordan on weekly and monthly basis using real data obtained from National Electric Power Company NEPCO. This study is aimed to develop practical models and algorithm techniques for MTLF to be used by the operators of Jordan power grid. The results are compared with the actual peak load data to attain minimum percentage error. The value of the forecasted weekly and monthly peak loads obtained from these models is examined using Least Square Error (LSE). Actual reported data from NEPCO are used to analyze the performance of the proposed approach and the results are reported and compared with the results obtained from PSO algorithm and AR model.

关键词： Medium Term Load Forecasting Particle Swarm Optimization Least Square Regression Methods

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Tumor microenvironment: an evil nexus promoting aggressive head and neck squamous cell carcinoma and avenue for targeted therapy

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Signal Transduction and Targeted Therapy 2021年第2期6卷 324-338页

作者： Ajaz A.Bhat Parvaiz Yousuf Nissar A.Wani Arshi Rizwan Shyam S.Chauhan Mushtaq A.Siddiqi Davide Bedognetti Wael EI-rifai Michael P.Frenneaux Surinder K.Batra Mohammad Haris Muzafar A.Macha Functional and Molecular Imaging Laboratory Cancer Research DepartmentSidra MedicineDohaQatar Department of Zoology School of Life SciencesCentral University of KashmirGanderbalJammu&KashmirIndia Department of Nephrology All India Institute of Medical SciencesNew DelhiIndia Department of Biochemistry All India Institute of Medical SciencesNew DelhiIndia Watson-Crick Centre for Molecular Medicine Islamic University of Science and TechnologyAwantiporaJammu&KashmirIndia Laboratory of Cancer Immunogenomics Cancer Research DepartmentSidra MedicineDohaQatar Department of Surgery University of MiamiMiamiFLUSA Academic Health System Hamad Medical CorporationDohaQatar Department of Biochemisty and Molecular Biology University of Nebraska Medical CenterOmahaNEUSA Eppley Institute for Research in Cancer and Alied Diseases University of Nebraska Medical CenterOmahaNEUSA Buffet Cancer Center University of Nebraska Medical CenterOmahaNEUSA Laboratory Animal Research Center Qatar UniversityDohaQatar

Head and neck squamous cell carcinoma(HNSCC)is a very aggressive disease with a poor prognosis for advanced-stage *** clinical,genomic,and cellular studies have revealed the highly heterogeneous and immunosuppressive nature of *** signifcant advances in multimodal therapeutic interventions,failure to cure and recurrence are common and account for most *** is becoming increasingly apparent that tumor microenvironment(TME)plays a critical role in HNSCC tumorigenesis,promotes the evolution of aggressive tumors and resistance to therapy,and thereby adversely affects the prognosis.A complete understanding of the TME factors,together with the highly complex tumor-stromal interactions,can lead to new therapeutic interventions in ***,different molecular and immune landscapes between HPV^(+ve) and HPV^(-ve)(human papillomavirus)HNSCC tumors offer new opportunities for developing individualized,targeted chemoimmunotherapy(CIT)*** review highlights the current understanding of the complexity between HPV^(+ve) and HPV^(-ve) HNSCC TME and various tumor-stromal cross-talk modulating processes,including epithelial-mesenchymal transition(EMT),anoikis resistance,angiogenesis,immune surveillance,metastatic niche,therapeutic resistance,and development of an aggressive tumor ***,we summarize the recent developments and the rationale behind CIT strategies and their clinical applications in HPV^(+ve) and HPV^(-ve) HNSCC.

关键词： targeted squamous thereby

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Gene Expression Profiling and Prognosis in Chronic Lymphocytic Leukemia

Gene Expression Profiling and Prognosis in Chronic Lymphocyt...

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Asian-Pacific Conference of Tumor Biology 2001

作者： YAalto WEI-rifai LVilpo JOllila BNagy MVihinen JVilpo SKnuutila Department of Medical Genetics Haartman Institute and Helsinki University Central Hospital Department of Medical Genetics Haartman Institute and Helsinki University Central Hospital Division of Biochemistry Department of Biosciences University of Helsinki Helsinki Department of Clinical Chemistry Department of Medical Genetics Haartman Institute and Helsinki University Central HospitalGenetic Laboratory Faculty of MedicineSemmelweis UniversityBudapestHungary Institute of Medical Technology and University of TampereTampere University HospitalTampereFinland Division of Biochemistry Department of Biosciences University of Helsinki Helsinki Department of Medical Genetics Haartman Institute and Helsinki University Central Hospital

＜正＞Chronic lymphocytic leukemia（CLL）is a heterogeneous disease with regard to its clinical *** of the methods currently available for prognostic assessment in CLL do not allow accurate pre-diction of the risk of disease progression in individual *** receotly developed cDNA array tech-nique provides a unique opportunity to study gene expression in various *** identify newmolecular markers for prognostication of CLL patients,we analyzed cDNA arrays by using hierarchicalclustering and standard statistic t-test on 34 CLL ***19 positive B cells purified from human

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Racial and Ethnic Analysis of Birth Weight Trends among Full-Term Singleton Newborns Delivered in a Prosperous Multicultural Society

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Open Journal of Obstetrics and Gynecology 2021年第12期11卷 1791-1802页

作者： Husam Salama Hilal Al rifai Sawsan Al-Obaidly Mai Al Qubasi Nawal El Saeed Ashraf Mansour Amani Saeed Women’s Wellness and Research Center Hamad Medical Corporation Doha State of Qatar

Objectives: This study aims to describe birth weight and its variations concerning maternal characteristics as well as to standardize birth weight curves for Qatari and expatriate’s newborn population born in the state of Qatar. Methods: PEARL-Peristat registry is a National maternal-neonatal observation epidemiologic database project where both maternal and neonatal cohort data are collected to evaluate specified outcomes for a population defined by a disease, conditions, or exposures. Results: Out of 50,535 singleton deliveries, only 44,178 live-born infants were included in this study. The LBW rate has remained constant since 2011 and was reported as 2.4% in males and 3.5% in females. The average total LBW was 3%. The lowest incidence of LBW was seen in maternal age between 30 - 45 years. There was a marginal increase in the i

关键词： Birth Weight Newborn Qatar Low Birth Weight Large Birth Weight

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Quality of life 10 years after liver transplantation:The impact of graft histology

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World Journal of Transplantation 2016年第4期6卷 703-711页

作者： Vincent Karam Mylène Sebagh Kinan rifai Funda Yilmaz Prashant Bhangui Colette Danet Faouzi Saliba Didier Samuel Denis Castaing René Adam Cyrille Feray Centre Hépatobiliaire Assistance Publique-Hepitaux de Paris Université Paris-Sud H?pital Paul Brousse Department of Gastroenterology Hepatology and Endocrinology Hannover Medical School Department of Pathology Faculty of Medicine University of Ege Medanta Institute of Liver Transplantation and Regenerative Medicine INSERM U955 Institut Mondor de Recherche Biomédicale

AIM To evaluate the relationship between the state of transplanted liver graft and the recipient quality of life(QOL) of histologically proven lesions in a 10-year post liver transplantation(LT) cohort of patients. METHODS Seventy-two recipients with a functional first graft at 10 years post-LT underwent liver biopsy and completed a QOL questionnaire. Logistic regression analysis was used to explore associations between histological, clinical andQOL criteria. RESULTS Ten years after LT, fibrosis was detected in 53% of patients, and affected the general health perception, while ductopenia, present in 36%, affected the well-being(P = 0.05). Hepatic steatosis(HS) was present in 33% of patients and was associated with the worst QOL score on multiple domains. When compared to patients without HS, patients with HS had significantly higher incidence of fibrosis(P = 0.03), hepatitis C virus(HCV) infection(P = 0.007), and more patients had retired from their job(P = 0.03). Recurrent or de novo HCV-associated fibrosis and patient retirement as objective variables, and abdominal pain or discomfort and joint aches or pains as subjective variables, emerged as independent determinants of HS. CONCLUSION Long-term liver graft lesions, mainly HS presumably as a surrogate marker of HCV infection, may have a substantial impact on QOL 10 years after LT.

关键词： Liver transplantation Quality of life Liver biopsy Hepatic steatosis Liver fibrosis

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AMD进展与C反应蛋白、白介素6及其他心血管生物标记间的前瞻性研究

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世界核心医学期刊文摘（眼科学分册） 2005年第12期1卷 29-30页

作者： Seddon J.M George S Rosner B rifai N 潘佳鸿 EpidemiologyUnit Massachusetts Eye and Ear Infirmary 243 Charles St Boston MA 02114 United States.Dr

Background: Age-related macular degeneration (AMD) and cardiovascular disease share common risk factors. Inflammatory biomarkers, including C-reactive protein (CRP),interleukin 6 (IL- 6), soluble tumor necrosis factor alpha receptor 2, soluble intercellular and vascular adhesion molecules (intercellular adhesion molecule 1 and vascular cell adhesion molecule 1), and lipid biomarkers, including lipoprotein(a) and apolipoprotein B, have all been associated with cardiovascular disease. We previously found an association betweenAMD and CRP in a cross-sectional analysis, but the prospective relationships between AMD, CRP, and the other cardiovascular disease markers are unknown. Objective: To test the hypothesis that baseline cardiovascular disease biomarkers are associated with subsequent increased risk for progression ***, Setting, and Participants: This prospective cohort study involved 251 participants aged 60 years and older who had some sign of nonexudative AMD and visual acuity of 20/200 or better in at least one eye at baseline. The AMD status was assessed by standardized grading of fundus photographs, and stored fasting blood specimens obtained at baseline were analyzed for levels of the various biomarkers. The average follow-up time was 4.6 years. Main Outcome Measures: Relationship between biomarkers and incidence rates of progression of AMD. Results: Comparing the highest quartile with the lowest quartile, CRP was associated with progression of AMD, with a multivariate adjusted relative risk (RR) of 2.10 (95% confidence interval (CI), 1.06- 4.18; P for trend, .046) controlling for body mass index, smoking, and other cardiovascular variables and a multivariate adjusted RR of 2.02 (95% CI, 1.00- 4.04; P for trend, .06) controlling additionally for antioxidant nutrients. Interleukin 6 was also related to progression of AMD, with a multivariate adjusted RR of 1.81 (95% CI, 0.97- 3.36; P for trend, .03). Comparing the highest quartile with the lowest quar

关键词： C反应蛋白生物标记 AMD 心血管疾病老年性黄斑变性细胞间黏附分子多变量校正可溶性细胞身高体重指数炎症因子

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美国临床生化科学院检验医学实践指南:心血管疾病和卒中一级预防中新的生物标志物第3章炎症生物标志物和心血管疾病危险

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临床检验杂志 2013年第5期31卷 365-376页

作者： Mary Cushman Christie M.Ballantyne Daniel Levy Nader rifai Gerald R.Cooper Gary L.Myers 梁红艳王腾姣姜晓峰郑芳鄢盛恺

对炎症生物标志物的建议炎症参与许多疾病过程,近10年来,炎症参与CVD的病理生理过程这一理论受到广泛赞同。目前发现多种炎症标志物,表3中24种炎症标志物已被许多观察研究数据所证实。根据炎症标志物的临床应用实际，如是否可有标准化... 详细信息

对炎症生物标志物的建议炎症参与许多疾病过程,近10年来,炎症参与CVD的病理生理过程这一理论受到广泛赞同。目前发现多种炎症标志物,表3中24种炎症标志物已被许多观察研究数据所证实。根据炎症标志物的临床应用实际，如是否可有标准化的商品化检测试剂及观察数据是否充分等进行归类。CRP、Fib和WBC被挑选作进一步评估。

关键词：炎症标志物生物标志物心血管病危病理生理过程疾病过程临床应用检测试剂

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经不依赖载脂蛋白(a)同工型大小的分析所测定的脂蛋白(a)与最初健康女性未来发生心血管事件风险的关系

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世界核心医学期刊文摘（心脏病学分册） 2007年第3期3卷 5-6页

作者： Danik J.S. rifai N. Buring J.E. Ridker P.M. 郭俊 Dr.Center for Cardiovascular Disease Prevention Brigham and Women's Hospital90 Commonwealth AveBostonMA 02215United States

背景:关于脂蛋白(a)这一与纤溶酶原同源的脂蛋白是否是女性发生心血管事件风险的有临床意义标记物仍存在争议。通过不同分析方法获得的脂蛋白(a)水平之间一致性较差。

关键词：心血管事件同工型非致死性纤溶酶原心血管风险同源的亚组女性健康分析方法总胆固醇

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