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Significant association of a single nucleotide polymorphism in the upstream region of FGFR1OP2/wit3.0 gene with residual ridge resorption of mandible in Saudis

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BIOCELL 2020年第1期44卷 55-62页

作者： Sahar ALZAIN Hana AL SHEIKH Arwa AL THOMALI Fatimah AL-MUKAYNIZI Noha ALMOBEREK Sahar A.ALMALKI Narasimha Reddy PARINE arjumand warsy Department of Prosthetic Dental Sciences College of DentistryKing Saud UniversityRiyadhSaudi Arabia Central Laboratory&Prince Naif Health Research Center Center for Science and Medical Studies for GirlsKing Saud UniversityRiyadhSaudi Arabia Genome Research Chair Department of BiochemistryCollege of ScienceKing Saud UniversityRiyadhSaudi Arabia

Residual ridge resorption(RRR)is the decrease in the jaw structure that follows tooth *** is a multifactorial disorder,but reports on the associated genetic factors are scarce,particularly amongst the *** study aimed to investigate the role of single nucleotide polymorphisms(SNPs)in fibroblast growth factor receptor 1 oncogene partner 2(FGFR1OP2)in RRR development in *** study included 192 individuals(RRR=96;controls=96)attending outpatient clinics at the College of Dentistry,King Saud *** and clinical data were collected,the digital panoramic dental radiograph was obtained,and mandibular residual ridge height was *** was extracted from saliva and genotyping was conducted on“Sequenom MassARRAY iPLEX”.Genotype and allele frequencies of three SNPs were calculated and *** age at first diagnosis and bone height were compared in the three genotypes of each *** age of the patients,age at first edentulism,and bone height ranged 21-80 years,12-70 years,and 13-34.6 mm,*** three genotypes of the studied SNPs(rs2279351,rs78054962 and rs2306852)were *** rs2279351 associated significantly with RRR,and the mutant C allele was highly *** association was observed for the other two *** genotypes of all SNPs had an influence on age at first edentulism and bone height,but the results were not statistically *** FGFR1OP2 plays a role in the process of rapid wound healing in the oral cavity,it may be playing a role in the development of RRR by influencing the rate of resorption of the *** rs2279351 may alter its expression and hence RRR *** study is limited due to small a sample size,and further large-scale studies are required to confirm this association and to consider rs2279351 as a possible marker of RRR development.

关键词： Bone resorption FGFR1OP2/wit3.0 gene Residual ridge resorption Single nucleotide polymorphisms

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Association between preterm birth risk and polymorphism and expression of the DNA repair genes OGG1 and APE1 in Saudi women

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BIOCELL 2018年第1期42卷 1-6页

作者： ARWA OSAMA NEMER MOHAMMAD SAUD AL ANAZI RAMESA SHAFI BHAT arjumand S.warsy ZENEB A BABAY MOHAMMAD HADDAR JILANI SHAIK SOOAD AL-DAIHAN Department of Biochemistry College of Science Genome Research Chair Department of BiochemistryCollege of Science Central Laboratory Female Center for Medical Studies and Scientific Section Department of Obs/Gyn College of MedicineKing Saud UniversityP.O.Box 22452Zip code 11495RiyadhSaudi Arabia

Genomic instability and mutations caused by increases in oxidative stress during pregnancy can damage the fetoplacental unit and can upshot preterm *** damage to DNA may possibly be involved in etiology of preterm birth(PTB)which can be repaired by DNA repair *** the present study,we assessed the association of base excision repair gene family by analyzing the association of single nucleotide polymorphisms and genes expression in 8-oxoguanine glycosylase-1(OGG1)and apurinic-apyrimidinic endonuclease 1(APE1)genes with risk of preterm birth in Saudi *** analyzed genotypes of four single nucleotide polymorphisms(SNPs)(rs1052133,rs293795,rs2072668 and rs2075747)in OGG1 gene and three SNPs(rs1130409,rs3136814,and rs3136817)in APE1 gene using TaqMan Genotyping assay kits in 50 pairs of preterm cases and individually matched ***,gene expression level was explored by RT-PCR in 10 pairs of preterm placental tissues and individually matched normal placental *** OGG1 SNP,rs1052133(OR=0.497;c2=1.11;p=0.292)and rs2072668(OR=0.408;c2=1.90;p=0.167)and one APE1 SNP rs3136817(OR=0.458;c2=0.40;p=0.527)showed nonsignificant protective effect against PTB *** expression of both genes under study was found lower in the PTB *** and allele frequencies of both gene SNPs did not show any association with the risk of preterm delivery in Saudi women(P˃0.05).However,synthesis and release of OGG1 and APE1 proteins decreased in preterm placental tissues compared to term delivery reflects the probability of being one of the mechanisms leading to preterm birth.

关键词： Preterm birth OGG1 and APE1 genes Oxidative stress SNPs

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Two polymorphisms in methylenetetrahydrofolate reductase gene(C677T and A1298C) frequently associated with recurrentspontaneous abortion show no association in Saudi women

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BIOCELL 2020年第4期44卷 613-621页

作者： AFRAH ALKHURIJI ATEKAH ABDULLAH MOHAMMED ALRAQIBAH AMAAL AWAD ALHARBI ZENEB BABAY FATIMAH BASIL AL-MUKAYNIZI ARWA ALTHOMALI SONYA S.ABDEL-RAZEQ arjumand S.warsy Department of Zoology College of ScienceKing Saud UniversityRiyadh11451Saudi Arabia Department of Obs/Gyn College of MedicineKing Saud UniversityRiyadh11451Saudi Arabia Prince Naif Bin AbdulAziz Health Research Center(PNHRC) King Saud UniversityRiyadh11451Saudi Arabia Division of Maternal-Fetal Medicine Department of ObstetricsGynecologyand Reproductive SciencesYale University School of MedicineNew Haven06501USA Central Laboratory Center for Science and Medical Studies for GirlsKing Saud UniversityRiyadh11451Saudi Arabia

Methylenetetrahydrofolate reductase(MTHFR)deficiency is the most common genetic cause of hyperhomocysteinemia,which has been implicated in the etiology of recurrent spontaneous abortion(RSA).This study was designed to investigate the association between two single nucleotide polymorphisms(SNP)(rs1801133[C677T]and rs1801131[A1298C])in the MTHFR gene and RSA,in *** two SNPs were selected as these polymorphisms have a different effect on the activity and stability of the enzyme,and significantly diverse effects have been reported in relation to the association with *** approval was acquired from the IRB at King Saud University(KKUH),Saudi Arabia,and written informed consent was obtained from each *** study group comprised of 100 Saudi women with unexplained RSA and 100 age-matched controls,both attending KKUH for a routine *** was drawn in EDTA tubes,and DNA was *** was conducted using TaqMan SNP genotyping assay *** frequency of the T allele of C677T was 0.165 in patients and 0.17 in *** frequencies for CC,CT and TT genotypes were 70%,27%and 3%,respectively in RSA,and 71%,24%and 5%,respectively,in the controls(p>0.05).For the A1298C polymorphism,the C allele frequencies were 0.345 in patients and 0.28 in controls,while genotype frequencies for AA,AC and CC genotypes were 44%,43%,and 13%,respectively,in patients,and 54%,36%,and 10%,respectively,in controls(p>0.05).The frequency of CC genotype and C allele of A1298C were higher in the patients with RSA,but not significantly,while C677T genotypes and allele frequencies did not differ between patients and *** results suggested that MTHFR gene polymorphisms are population-specific and may not associate with RSA in Saudi women.

关键词： MTHFR RSA Single nucleotide polymorphism Hyperhomocystenemia

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Variable <i>β</i>-globin haplotypes in Saudi <i>β</i>thalassemia population

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Open Journal of Genetics 2013年第3期3卷 171-173页

作者： Jameela Shinwari Tahani Alshehri Asma I. Tahir Abdullah Al Jefri Abdulkareem AlMomen Dana Bakheet Mohammad AlAnazi arjumand warsy Nada Al Tassan Biochemistry Department College of Science King Saud University Riyadh KSA Department of Genetics Research Centre King Faisal Specialist Hospital & Research Centre Riyadh KSA Hematology Department King Khalid University Hospital King Saud University Riyadh KSA Pediatric Hematology/Oncology Department King Faisal Specialist Hospital & Research Centre Riyadh KSA

Twenty two haplotypes were generated from a pool of 60 unrelated Saudi β thalassemia major patients using previously described restriction sites in the β globin gene. Linkage disequilibrium analysis of the polymorphic sites was also conducted, a few identified haplotypes were novel while the remainder was previously reported, haplotype1222212 was the most frequent haplotype in the study group and a strong linkage disequilibrium between two polymorphic restriction sites in these β thalassemia patients was uncovered.

关键词： SNPs Haplotype Linkage Disequilibrium Restriction Sites

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Risk Factors Associated with Birth Asphyxia in Rural District Matiari, Pakistan: A Case Control Study

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International Journal of Clinical Medicine 2014年第21期5卷 1430-1441页

作者： Farhana Tabassum arjumand Rizvi Shabina Ariff Sajid Soofi Zulfiqar A. Bhutta Department of Pediatrics and Child Health Aga Khan University Karachi Pakistan

Background: During the past two decades there has been a sustained decline in child mortality;however, neonatal mortality has remained stagnant. Each year approximately 4 million babies are born asphyxiated resulting in 2 million neonatal deaths and intrapartum stillbirths. Almost all neonatal deaths occur in developing countries, where the majority is delivered at homes with negligible antenatal care and poor perinatal services. Objectives: To identify socio-demographic and clinical risk factors associated with birth asphyxia in Matiari District of Sindh Province, Pakistan. Method: A matched case control study was conducted in Matiari District with 246 cases and 492 controls. Newborn deaths with birth asphyxia diagnosed through verbal autopsy accreditation during 2005 and 2006 were taken as cases. Controls were the live births during the same period, matched on area of residence, gender and age. Result: The factors found to be associated with birth asphyxia mortality in Matiari District of Sindh Province, Pakistan are maternal education, history of stillbirths, pregnancy complications (including smelly or excessive vaginal discharge and anemia), intrapartum complications (including fever, prolong or difficult labour, breech delivery, cord around child’s neck, premature delivery, large baby size) and failure to establish spontaneous respiration after birth. Conclusion and Recommendation: There is an immediate need to develop strategies for early identification and management of factors associated with birth asphyxia by involving women, families, communities, community health workers, health professionals and policy makers. Community health workers should be trained for emergency obstetric care, basic newborn care including preliminary resuscitation measures to provide skilled birth attendance and encourage early recognition and referral.

关键词： Birth Asphyxia Prolong Labor Antenatal Care

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Implementation of Research for Quality of Care Project! Measuring and Improving Physician Compliance with WHO Clinical Practice Guidelines for ＇Iron Deficiency Anemia in Children＇

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Journal of Health Science 2016年第3期4卷 118-124页

作者： arjumand Sohaila Nadia Mohammad Shireen Mohammad Adnan Khan Kashif Sajwani Rahila Meghani Khalil Ahmed Ali Faisal Saleem Aga Khan University Hospital-Karachi Pakistan Aga Khan Hospital for Women-Garden Campus Karachi Karachi Pakistan

Iron deficiency anemia （IDA） is the most prevalent anemia globally. As per WHO, 600 million children worldwide have IDA. Additionally, National Nutrition Survey 2011, Pakistan revealed 61.9% children are anaemic. In our project we measure and improve physicians compliance with WHO Clinical practice guidelines for ＇Iron deficiency anemia in children＇. Juran＇s Problem Solving Methodology was applied. Pre-survey results suggest 81.1% children are anemic. Only 11.4% and 10.6% are on regular Iron supplementation and deworming agents respectively. Though （93.4%） physicians surveyed have comprehensive knowledge. Moreover, merely 13.7% parents have some knowledge about IDA. We choose Ishikawa Fish Bone Diagram for cause and effect analysis and ＇Gant Chart＇ to allocate timelines. We implement certain strategies like Physician＇s questionnaire form, refresher courses, information material for parents, and sustain supply of medicines. Post survey analysis concluded significant increased prescription rate of Iron supplementation and deworming agents as well as parents knowledge for IDA. For long-term sustainability, we established Policy, Quality indicators, Posters/Brochures and regular refresher courses. We also ensure adequate and sustain supply of iron supplementations and deworming agents at subsidized rates in hospital pharmacy. In responses to our project, we found under-practice of WHO recommendations despite comprehensive physician＇s knowledge.

关键词： Iron deficiency anemia WHO recommendations physicians compliance.

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