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thalassemia Screening by Sentiment Analysis on Social Media Platform Twitter

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Computers, Materials & Continua 2023年第7期76卷 665-686页

作者： Wadhah Mohammed M.Aqlan Ghassan Ahmed Ali Khairan Rajab Adel Rajab Asadullah Shaikh Fekry Olayah Shehab Abdulhabib Saeed Alzaeemi Kim Gaik Tay Mohd Adib Omar Ernest Mangantig School of Computer Sciences Universiti Sains MalaysiaUSM11800PenangMalaysia College of Computer Science and Information Systems Najran UniversityNajran61441Saudi Arabia Faculty of Electrical and Electronic Engineering Universiti Tun Hussein Onn Malaysia86400JohorMalaysia IPPT Universiti Sains MalaysiaUSM11800PenangMalaysia

thalassemia syndrome is a genetic blood disorder induced by the reduction of normal hemoglobin production,resulting in a drop in the size of red blood cells.In severe forms,it can lead to death.This genetic disorder has posed a major burden on public health wherein patients with severe thalassemia need periodic therapy of iron chelation and blood transfusion for survival.Therefore,controlling thalassemia is extremely important and is made by promoting screening to the general population,particularly among thalassemia carriers.Today Twitter is one of the most influential social media platforms for sharing opinions and discussing different topics like people’s health conditions and major public health affairs.Exploring individuals’sentiments in these tweets helps the research centers to formulate strategies to promote thalassemia screening to the public.An effective Lexiconbased approach has been introduced in this study by highlighting a classifier called valence aware dictionary for sentiment reasoning(VADER).In this study applied twitter intelligence tool(TWINT),Natural Language Toolkit(NLTK),and VADER constitute the three main tools.VADER represents a gold-standard sentiment lexicon,which is basically tailored to attitudes that are communicated by using social media.The contribution of this study is to introduce an effective Lexicon-based approach by highlighting a classifier calledVADERto analyze the sentiment of the general population,particularly among thalassemia carriers on the social media platform Twitter.In this study,the results showed that the proposed approach achieved 0.829,0.816,and 0.818 regarding precision,recall,together with F-score,respectively.The tweets were crawled using the search keywords,“thalassemia screening,”thalassemia test,“and thalassemia diagnosis”.Finally,results showed that India and Pakistan ranked the highest in mentions in tweets by the public’s conversations on thalassemia screening with 181 and 164 tweets,respectively.

关键词： Social media platform Twitter screening thalassemia lexicon-based VADER

Molecular spectrum of thalassemia in tropical Hainan Island of southern China:high allele frequency with low health burden

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Journal of Genetics and Genomics 2022年第12期49卷 1162-1164页

作者： Yanquan Lai Fangchao Tao Yu Zou Min Huang Kaiting Lin Yang Li Weilun Huang Wanjun Zhou Department of Eugenics Hainan Provincial Public Service Center of Prenatal and Postnatal CareHaikouHainan 570203China Department of Medical Genetics School of Basic Medical SciencesSouthern Medical UniversityGuangzhouGuangdong 510515China Department of Clinical Laboratory Hainan Provincial Public Service Center of Prenatal and Postnatal CareHaikouHainan 570203China Danzhou Family Planning Service Center DanzhouHainan 571799China Department of Laboratory Medicine Nanfang HospitalSouthern Medical UniversityGuangzhouGuangdong 510515China

thalassemia is the most common monogenetic disorder prevalent in tropical and subtropical regions.It is mainly classified into aandβ-thalassemia according to which globin chain is affected(Taher et al.,2018).thalassemia mutations present significant genetic diversity,which causing absent(a~0 andβ~0)or reduced(a+andβ+)synthesis of globin chains.Consequently,homozygotes or compound heterozygotes of different thalassemia alleles can lead to various clinical phenotypes.

关键词： thalassemia tropical allele

Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction

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Chinese Medical Journal 2020年第10期133卷 1175-1181页

作者： Dong-Mei Chen Shi Ma Xiang-Lan Tang Ji-Yun Yang Zheng-Lin Yang Clinical Medical School Southwest Medical UniversityLuzhouSichuan 646000China The Key Laboratory for Human Disease Gene Study of Sichuan Province and Institute of Laboratory Medicine Sichuan Provincial People's HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026) Sichuan Academy of Medical SciencesChengduSichuan 610072China Natural Products Research Center Institute of Chengdu BiologySichuan Translational Medicine HospitalChinese Academy of SciencesChengduSichuan 610072China.

Background:Patients carrying the HongKongαα(HKαα)allele and-α3.7/αααanti-4.2 could be misdiagnosed as-α3.7/ααby the current conventional thalassemia detection methods,leading to inaccurate genetic counseling and an incorrect prenatal diagnosis.This study was aimed to accurately analyze the genotypes of HKααcarriers and-α3.7/αααanti-4.2.Methods::Samples were collected in our hospital from July 2017 to October 2019.Twenty-four common types of Chinese thalassemia were screened by gap-polymerase chain reaction(Gap-PCR)and reverse dot blot(RDB).Anti-4.2 multiplex-PCR was used to confirm carriers of theαααanti-4.2 duplication with-α3.7 deletion.Two-round nested PCR and multiplex ligation-dependent probe amplification(MLPA)were applied to accurately identify and confirm their genotypes.For data analysis,we used descriptive statistics and Fisher’s exact tests.Results::Two thousand five hundred and forty-four cases were identified as thalassemia in 5488 peripheral blood samples.The results showed thatα,β,andαβcompound thalassemia were identified in 1190(46.78%),1286(50.55%),and 68(2.67%)cases,respectively.A total of 227 samples from thalassemia patients were identified as-α3.7/ααby Gap-PCR,and the genotypes of two samples were uncertain.There was a difference between Gap-PCR and combined groups(Gap-PCR combined with nested PCR and MLPA)in detecting HKαα(Pthalassemia coinheritance,one with HKαα/-SEA,one with HKαα/-α4.2 andβ-thalassemia coinheritance,and one with-α3.7/αααanti-4.2 and β-thalassemia coinheritance.Conclusions::αααanti-4.2 and HKααgenotypes of patients carrying-α3.7 need to be detected to reduce the misdiagnosis rate of patients carrying HKααand-α3.7/αααanti-4.2 alleles.More accurate genetic counseling can be provided in the clinic using nested PCR combined with MLPA.

关键词： thalassemia HongKongαα Nested polymerase chain reaction Multiplex ligation-dependent probe amplification Gene dosage

Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns

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World Journal of Pediatrics 2019年第6期15卷 610-614页

作者： Wei Wen Meng Guo Hong-bing Peng Li Ma Neonatal Screening Center Shenzhen Maternity and Child Healthcare HospitalFuqiang Road 3012Futian DistrictShenzhen 518017China

Background To optimize and apply an approach suitable for large-scale neonatal thalassemia genetic screening in China,thalassemia genotypes were determined by polymerase chain reaction-reverse dot blot using DNA extracted from dried blood spots(DBS)obtained from newborn screening programs.Methods Firstly,the most suitable commercial DNA extraction kit for DBS was screened.Then,the appropriate amount of DBS required for the automated high-throughput DNA extraction system was evaluated.Finally,the thalassemia prevalence and genotype spectrum in Shenzhen were investigated in 2028 newborns using the optimized screening procedure.Results The Magentec extraction kit was best suited for the automated DBS DNA extraction system using eight 3-mm DBS discs.The neonatal thalassemia prevalence in Shenzhen was 9.12%;6.31%α-thalassemia,2.37%β-thalassemia,and 0.44%α-/β-thalassemia.Conclusions Genetic screening based on DBS can precisely identify the thalassemia genotypes.Bothα-andβ-thalassemia are widely distributed in Shenzhen newborns.Newborn genetic screening is important for establishing a comprehensive thalassemia prevention program and for public education.

关键词： Dried blood spot Genetic screening Newborn screening thalassemia

Effectiveness of Using Mean Corpuscular Volume and Mean Corpuscular Hemoglobin for Beta-thalassemia Carrier Screening in the Guangdong Population of China

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Biomedical and Environmental Sciences 2021年第8期34卷 667-671页

作者： GU Heng WANG Yong Xia DU Meng Xuan XU Shan Shan ZHOU Bing Yi LI Ming Zhen NHC Key Laboratory of Male Reproduction and Genetics Family Planning Research Institute of Guangdong ProvineeGuangzhou 510000GuangdongChina Department of Public Health and Preventive Medicine Jinan UniversityGuangzhou 510000GuangdongChina

Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.

关键词： Guangdong Population thalassemia

Study of concentration of amniotic fluid Alpha-fetal protein in thalassemia fetus

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Asian Pacific Journal of Tropical Medicine 2017年第2期10卷 192-194页

作者： Yi Ling Yan-Hong Yu Song Jin Chun-Xia Hu Wei Peng Hong-Yu Zhang Huo Fu Ning Zhang Yan-Xin Wei Ze-Jun Chen Department of Obstetrics and Gynecology Souther HospitalAffiliated Hospital of Southern Medical University Department of Obstetrics Prenatal Diagnose CenterAffiliated Hospital of Hainan Medical University

Objective:To test the hypothesis that concentration of amniotic fluid alpha-fetal protein(AFAFP) is increased in thalassemia fetus.Methods:A total of 135 cases of amniocentesis admitted from July 2013 to December 2014 were included in this study.Among them 98 cases of normal fetuses were assigned into control group and 37 cases of thalassemia fetus were included as thalassemia fetus group.Alpha-fetoprotein levels detected by enzyme linked immunosorbent assay and the alpha-fetoprotein concentration were compared between the two groups.There is no significant difference in gestrational age between the two groups.Results:1.AFP concentration in thalassemia fetus group was significantly higher than that of normal control group [(1541.65±734.78) μg/mL vs.(2728.84± 1539.97) μg/mL ],and amniotic fluid AFP concentration was related to fetal thalassemia.2.AFAFP concentration in pureα-thalassemia fetus was higher than that of β thalassemia fetus or mixed αand was not significant.Conclusions:Concentration of a β thalassemia fetus,but the difference mniotic fluid alpha-fetal protein is increased in thalassemia fetus.AFP concentration inα-thalassemia fetus was higher than that of β thalassemia or mixed αand lore β thalassemia fetus but difference was not significance.Further studies are needed to exp the possible correlation between Down syndrome and biochemical markers of thalassemia.

关键词： Alpha-fetoprotein Amniotic fluid thalassemia Fetus

Up-regulation of NKG2A Inhibitory Receptor on Circulating NK Cells Contributes to Transfusion-induced Immunodepression in Patients with β-thalassemia Major

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2016年第4期36卷 509-513页

作者：邹勇宋志兴陆英梁晓莉袁青廖思红鲍俊杰 Department of Blood Transfusion the Third Affiliated Hospital of Sun Yat-sen UniversityGuangzhou 510630 China Department of Clinical Laboratory the Third Affiliated Hospital of Sun Yat-sen UniversityGuangzhou 510630 China Reproductive Medicine Unit Department of Obstetrics & Gynecology the First People's Hospital of Foshan Foshan 528000 China Preterm Birth Prevention and Treatment Research Unit Department of Obstetrics Guangzhou Women and Children's Medical Center GuangZhou Medical University Guangzhou 510180 China

Accumulating evidence has shown that allogeneic blood transfusions can induce significant immunosuppression in recipients, and thereby increase the risk of postoperative infection and/or tumor relapse. Although it is well known that natural killer（NK） cells are responsible for the immunodepression effects of transfusion, the underlying mechanisms remain obscure. In this study, we investigated the role of NK cells in transfusion-induced immunodepression in β-thalassemia major. The proportion of circulating NK cells and the expression of NK receptors（NKG2A, CD158 a, NKP30, NKP46 and NKG2D） as well as CD107 a were detected by multicolor flow cytometry. IFN-γ production by circulating NK cells was detected by intracellular cytokine staining. Our results showed that the proportion and cytotoxicity（CD107a expression） of circulating NK cells in transfusion-dependent β-thalassemia major patients were remarkably lower than those of β-thalassemia minor patients or healthy volunteers. Expression of NKG2 A inhibitory receptor on circulating NK cells in patients with β-thalassemia major was remarkably up-regulated, but there were no significant differences in the expression levels of NKP30, NKP46, NKG2 D, CD158 a and IFN-γ. These results indicate NKG2 A inhibitory receptor may play a key role in transfusion-induced immunodepression of NK cells in patients with β-thalassemia major.

关键词： natural killer cells NKG2A thalassemia transfusion immunodepression

Genetic diversity of HCV among various high risk populations(IDAs,thalassemia,hemophilia,HD patients) in Iran

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Asian Pacific Journal of Tropical Medicine 2013年第7期6卷 556-560页

作者： Rafiei A Darzyani Azizi M Taheri S Haghshenas MR Hosseinian A Makhlough A Molecular and Cell Biology Research Center.Faculty of Medicine Mazandaran University of Medical Sciences18KM Khazar BlvdKhazar Sq.SariIran Department of Internal Medicine Faculty of MedicineMazandaran University of Medical SciencesSari.Iran Nephrology Ward Department of Internal MedicineFaculty of MedicineMazandaran University of Medical SciencesSari.Iran

Objective:To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran.Methods:A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including thalassemia,hemophilia,patients under hemodialysis and intravenous drug addicts.HCV genotypes were determined based on amplification with type-specific primers methods.Results:Among the 187 anti-HCV positive samples,only 135 (72.2%)gave HCV-RNA positvity.Over all,the most identified HCV type was genotype 3a(51.1%) followed by 1a(27.4%),1b(8.2%).Sixteen(11.9%)out of 135 HCV RNA-positive participants have infected with more than one genotype or subtypes as follow:1a/1b in 11(8.2%),2/3a in 3 (2.2%),and 1a/1b/3a in 2(1.5%).Stratification of participants revealed that HCV subtype 3a was more prominent in thalassemia,hemophilia and HD patients but 1a and 1b were frequent in intravenous drug addicts.Conclusions:This study is the first report on HCV genotypes among Iranian subjects with different exposure categories resided in Mazandaran.where genotype 3a was found to be the most frequent genotype in thalassemia,hemophilia,and hemodialysis patients but not in IDAs.Since the addiction age is decreasing in Iran and a lot of addicts are IDAs.it might change the subtype pattern of HCV in general population.

关键词： HCV thalassemia Hemophilia Hemodialysis Intravenous drug addicts Iran

Measuring the Awareness of thalassemia in Saudi Arabia

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Advances in Bioscience and Biotechnology 2023年第9期14卷 399-408页

作者： Noorah Saleh Al-Sowayan Abrar Mohammed Al-Fadhel Tahiyat Al Othaim Department of Biology College of Science Qassim University Buraydah Saudi Arabia

Introduction: thalassemia disorder is a genetic disease that causes the blood to have less hemoglobin than normal, the main requirement to control thalassemia’s propagation is to educate the entire society. Methodology: A descriptive survey was taken to evaluate the awareness of thalassemia among Saudi Arabia’s society, with a sample size of 384. Results: The results were written in frequencies, and it shows that most of the participants were unaware and lacking information on thalassemia syndrome. Discussion: The results of this study provide valuable insights into the awareness of thalassemia in Saudi Arabia and highlight the need to raise awareness of this disease. Conclusion: This study is not comprehensive because the survey was not disrupted evenly, but it can give us an overview of the awareness of thalassemia in Saudi Arabia, and it shows that most of the participants were unaware and lacked information on thalassemia.

关键词： thalassemia Genetic Disorder thalassemia Syndrome Awareness Survey Saudi Arabia