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https://www.readbyqxmd.com/read/27906437/vitamin-d-receptor-polymorphisms-as-tool-for-early-screening-of-severe-bone-loss-in-women-patients-with-rheumatoid-arthritis
#1
G Di Spigna, A Del Puente, B Covelli, E Abete, E Varriale, S Salzano, L Postiglione
OBJECTIVE: Rheumatoid Arthritis (RA) is an autoimmune inflammatory disease that leads to local and systemic arthritis and bone loss. Exploring genetic markers of candidate genes in osteoporosis and inflammatory cytokine genes could be a useful tool for the early identification of bone loss and fracture risk in RA patients. The target of this study is the evaluation and correlation between of Single Nucleotide Polymorphisms (SNPs) of Vitamin D Receptor (VDR) and possible effects on bone loss in RA...
November 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27895375/clinical-profile-treatment-and-survival-outcomes-of-peadiatric-germ-cell-tumours-a-pakistani-perspective
#2
Irfan Ul Islam Nasir, Muhammad Ijaz Ashraf, Nouman Ahmed, Muhammad Fahd Shah, Muhammad Taqi Pirzada, Amir Ali Syed, Abid Quddus Qazi
Germ Cell Tumours (GCTs) are rare tumours. Generally 80% are benign and 20% malignant with a bimodal age distribution. The retrospective study was conducted at Shaukat Khanum Cancer Hospital, Lahore, Pakistan, and comprised all paediatric patients below 18 years of age who received treatment for histology-proven GCT from 2006 to 2014. Of the 207 patients, 98(42.3%) were males and 109(52.7%) were females. The most common GCT was yolk sac tumour in 90(43.5%) children followed by mixed GCT in 40(19.3%) and dysgerminoma in 34(16...
October 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27891515/the-association-between-vdr-gene-polymorphisms-and-diabetic-retinopathy-susceptibility-a-systematic-review-and-meta-analysis
#3
Yun Zhang, Wei Xia, Ping Lu, Huijuan Yuan
Aims. Studies on the associations of vitamin D receptor (VDR) gene polymorphisms with diabetic retinopathy (DR) susceptibility reported conflicting results. A systematic meta-analysis was undertaken to clarify this topic. Methods. A systematic search of electronic databases (PubMed, EMBASE, and CNKI) was carried out until March 31, 2016. The pooled odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of the association. Results. A total of 7 studies fulfilling the inclusion criteria were included in this meta-analysis (649 cases and 707 controls)...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27889775/vitamin-d-receptor-taqi-gene-polymorphism-and-dental-caries-in-czech-children
#4
Lydie Izakovicova Holla, Petra Borilova Linhartova, Jakub Kastovsky, Michaela Bartosova, Kristina Musilova, Lubomir Kukla, Martina Kukletova
AIM: We analyzed the VDR TaqI (rs731236) gene polymorphism in children with and those without dental caries. METHODS: A total of 388 subjects, 153 caries-free (with decayed/missing/filled teeth [DMFT] = 0) and 235 children with dental caries (DMFT ≥1), were genotyped by the TaqMan method. RESULTS: Although no significant differences in VDR TaqI allele and genotype frequencies between caries-free and caries-affected children were detected, a significant association between this polymorphism and gingivitis was found (p < 0...
November 26, 2016: Caries Research
https://www.readbyqxmd.com/read/27844014/genetic-va-riation-in-the-na-rrow-c-lawed-c-ra-yfish-astacus-lepto-dactylus-po-pulatio-ns-as-assesse-d-by-pcr-rflp-of-mitochondria-l-coi-gene
#5
Majidreza Khos Hkholgh, Sajad Nazari
The genetic variation and population structure of narrow-clawed crayfish (Astacus leptodactylus) was examined by means of polymerase chain reaction (PC R) restriction fragment length polymorphism (RF LP) analysis of the cytochrome oxidase subunit I (COI) of mitochondrial DNA. A total of 194 adult specimens were collected from seven sample sites including, two in the south Caspian Sea and one each in Anzali wetland and Aras reservoir and three rivers Chafrood, Masule Rudkhan and S iah Darvishan. The PCR products were digested with 19 restriction enzymes and five enzymes revealed polymorphism patterns (DdeІ, MboІ, TaqI, RsaІ and HinfІ)...
December 2015: Molecular Biology Research Communications
https://www.readbyqxmd.com/read/27829443/the-role-of-c957t-taqi-and-ser311cys-polymorphisms-of-the-drd2-gene-in-schizophrenia-systematic-review-and-meta-analysis
#6
REVIEW
Thelma Beatriz González-Castro, Yazmín Hernández-Díaz, Isela Esther Juárez-Rojop, María Lilia López-Narváez, Carlos Alfonso Tovilla-Zárate, Alma Genis-Mendoza, Mariela Alpuin-Reyes
BACKGROUND: The association between the dopamine D2 receptor (DRD2) gene and schizophrenia has been studied though no conclusive outcomes have been attained. The aim of this study was to perform a systematic review and meta-analysis to explore the relation between three polymorphisms of the DRD2 gene (C957T, TaqI and Ser311Cys) and schizophrenia. METHODS: The search was made in PubMed and EBSCO databases (up to February 2016). The systematic review included 34 case-control association studies (34 for C957T, 16 for TaqI and 36 for Ser311Cys)...
November 9, 2016: Behavioral and Brain Functions: BBF
https://www.readbyqxmd.com/read/27822243/screening-the-partial-coding-region-of-metallothionein-isoform-2-gene-in-zebu-cattle
#7
P N Gholap, D S Kale, K Krishnamurthi, A R Sirothia, M D Kothekar
Metallothionein (MT) is important because it binds tightly to heavy metals to decrease their toxicity. DNA was isolated from 30 toxic metal exposed and 30 toxic metal unexposed Zebu cows. The amplified metallothionein isoform-2 (MT-2) PCR product (489 bp) was further used for PCR-RFLP and DNA sequencing. MT-2 TaqI PCR-RFLP revealed homozygous genotype (AA) except for the E23 animal (AB). The genotype frequency of AA and AB (E23) genotypes in the exposed groups was 0.967 and 0.033 respectively. DNA sequencing was carried out for the toxic metal exposed sample (E23) and the control group sample (C13)...
2016: Iranian journal of veterinary research
https://www.readbyqxmd.com/read/27808388/assessment-of-the-link-between-vitamin-d-receptor-taqi-gene-polymorphism-and-periodontitis-a-meta-analysis-in-a-chinese-population
#8
X W Ji, Y Wang, C Cao, L J Zhong
Although a number of studies have been conducted to determine the association between vitamin D receptor (VDR) TaqI polymorphism and periodontitis in the Chinese population, this association remains elusive. To assess the influence of VDR TaqI polymorphism on the risk of periodontitis, a meta-analysis was performed in a Chinese population. Relevant studies were identified using the databases PubMed, Springer Link, Ovid, Chinese Wanfang Data Knowledge Service Platform, Chinese National Knowledge Infrastructure, and Chinese Biology Medicine, through January 2016...
October 6, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27781037/rescue-thrombectomy-in-large-vessel-occlusion-strokes-leads-to-better-outcomes-than-intravenous-thrombolysis-alone-a-real-world-applicability-of-the-recent-trials
#9
Raul G Nogueira, Osama O Zaidat, Alicia C Castonguay, Diogo C Haussen, Coleman O Martin, William E Holloway, Nils Mueller-Kronast, Joey English, Italo Linfante, Guilherme Dabus, Tim W Malisch, Franklin A Marden, Hormozd Bozorgchami, Andrew Xavier, Ansaar T Rai, Michael T Froehler, Aamir Badruddin, Thanh N Nguyen, M Asif Taqi, Michael G Abraham, Vallabh Janardhan, Albert J Yoo, Hashem Shaltoni, Alex Abou-Chebl, Peng R Chen, Gavin W Britz, Roberta Novakovic, Ashish Nanda, Ritesh Kaushal, Mohammad A Issa, Michael R Frankel, Rishi Gupta
BACKGROUND: The Interventional Management of Stroke III (IMS-III) trial demonstrated no benefit for intravenous recombinant tissue plasminogen activator (IV rt-PA) followed by endovascular therapy versus IV rt-PA alone. However, IMS-III mostly included earlier generation devices. The recent thrombectomy trials have incorporated the stent-retriever technology, but their generalizability remains unknown. METHODS: The North American Solitaire Acute Stroke (NASA) registry recruited patients treated with the Solitaire FR™ device between March 2012 and February 2013...
September 2016: Interventional Neurology
https://www.readbyqxmd.com/read/27780008/severe-hemophilia-a-in-a-male-old-english-sheep-dog-with-a-c%C3%A2-t-transition-that-created-a-premature-stop-codon-in-factor-viii
#10
Jay N Lozier, Mark T Kloos, Elizabeth P Merricks, Nathaly Lemoine, Margaret H Whitford, Robin A Raymer, Dwight A Bellinger, Timothy C Nichols
Animals with hemophilia are models for gene therapy, factor replacement, and inhibitor development in humans. We have actively sought dogs with severe hemophilia A that have novel factor VIII mutations unlike the previously described factor VIII intron 22 inversion. A male Old English Sheepdog with recurrent soft-tissue hemorrhage and hemarthrosis was diagnosed with severe hemophilia A (factor VIII activity less than 1% of normal). We purified genomic DNA from this dog and ruled out the common intron 22 inversion; we then sequenced all 26 exons...
2016: Comparative Medicine
https://www.readbyqxmd.com/read/27778467/association-between-vitamin-d-receptor-gene-polymorphism-and-ankylosing-spondylitis-in-han-chinese
#11
Pingping Zhang, Qiuxia Li, Jun Qi, Qing Lv, Xuqi Zheng, Xinyu Wu, Jieruo Gu
OBJECTIVES: To investigate whether vitamin D receptor (VDR) gene polymorphisms confer susceptibility to aankylosing spondylitis (AS) and study its polymorphisms in Han Chinese. METHODS: We screened single nucleotide polymorphisms (SNPs) in the VDR region through genome-wide genotyping chips in AS cases and healthy controls, then used the exome sequencing result to analyze all the potential AS-associated SNPs in the VDR gene. RESULTS: Thirty-two SNPs were found in the VDR gene in the genome-wide genotyping chips and the logistic regression result showed no significant difference between AS cases and controls...
October 25, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27771345/the-association-between-vitamin-d-receptor-polymorphisms-and-serum-25-hydroxyvitamin-d-levels-with-ulcerative-colitis-in-chinese-han-population
#12
Shu-Zi Zheng, Da-Guan Zhang, Hao Wu, Li-Jia Jiang, Jie Jin, Xiu-Qing Lin, Ran Ding, Yi Jiang
There is now growing evidence suggesting that Vitamin D is playing a critical role in modulating the innate and adaptive immune responses. Several polymorphisms have been identified in the vitamin D receptor (VDR) gene but their association with ulcerative colitis (UC) susceptibility remained controversy. In the current study, we examined the association between VDR polymorphisms and serum level of 25-hydroxyvitamin D [25(OH)D] with UC in Chinese Han population. Polymorphisms of FokI (rs2228570)/BsmI (rs1544410)/ApaI (rs7975232)/TaqI (rs731236) in the VDR gene were assessed in a case-control study comprising 404 UC patients and 612 controls...
October 19, 2016: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/27708484/calcitonin-receptor-alui-rs1801197-and-taq1-calcitonin-genes-polymorphism-in-45-and-over-45-year-old-women-and-their-association-with-bone-density
#13
Morteza Dehghan, Razieh Pourahmad-Jaktaji, Zarghampoor Farzaneh
PURPOSE: Calcitonin receptor gene has also a polymorphism which is associated with bone mass density. This study evaluates the association between calcitonin receptor AluI (rs1801197) and Taq1 calcitonin genes polymorphism with bone density rate. METHODS: In this descriptive-analytical study in 2013 in southwestern Iran, 200 blood samples, per the Cochran sample size formula, were taken from women aged 45 and older. DNA was extracted from the samples using the phenol- chloroform method and the genomic fragments in question were proliferated using the polymerase chain reaction (PCR) method...
July 16, 2016: Acta Informatica Medica: AIM
https://www.readbyqxmd.com/read/27688524/taqi-foki-and-apai-polymorphisms-in-the-vitamin-d-receptor-in-beh%C3%A3-et-s-disease-in-turkish-population
#14
Gaye Erten, Muhammed Kalkan, Sema Bilgiç Gazioğlu, Nilgun Akdeniz, Elif Ozkok, Burcak Vural
Objectives. In our study we aimed to determine VDR gene polymorphisms in patients with Behçet's disease (BD) and neuro-Behçet's disease (NBD) in Turkish population. Methods. PBL obtained from 37 patients with BD, 21 patients with NB, and 30 healthy controls were investigated. Genomic DNA was extracted from whole blood using the QIAamp Blood Kit. VDR ApaI (rs7975232), VDR FokI (rs2228570), and VDR TaqI (rs731236) genotyping was performed by real-time polymerase chain reaction with SimpleProbe melting-curve analysis...
2016: Disease Markers
https://www.readbyqxmd.com/read/27672714/relationship-between-vitamin-d-receptor-gene-polymorphisms-cardiovascular-risk-factors-and-adiponectin-in-a-healthy-young-population
#15
Aline Hajj, Rima Chedid, Eliane Chouery, André Megarbané, Marie-Hélène Gannagé-Yared
AIM: To explore the association between VDR polymorphisms and several cardiovascular risk factors and adiponectin. MATERIALS & METHODS: Three-hundred and sixty-nine healthy students were randomly selected. Five VDR polymorphisms were genotyped: BsmI rs1544410; Cdx2 rs11568820; ApaI rs7975232; TaqI rs731236 and FokI rs2228570. BMI, waist circumference (WC), blood pressure, lipid/glycemic profiles and adiponectin were assessed. RESULTS: In men, BsmI, ApaI and TaqI were associated with BMI and WC (p < 0...
October 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27672579/disc-battery-an-unusual-vaginal-foreign-body-in-a-child
#16
Yousuf Aziz Khan, Mansoor Mahmood, Esmaeel Taqi
Disc battery ingestion and esophageal injury is well-known in children. Insertion of a disc/lithium battery into body's natural orifices is rarely reported. We present a case of self-insertion of a lithium battery into the vagina by a 2 ½ year old female. Vaginoscopy was performed and the battery was retrieved which had corroded and caused vaginal ulceration. Post-operative outcome was favorable. Treating physicians must be aware of the hazardous effects of insertion of lithium batteries as it may cause significant damage in a short period...
September 2016: APSP Journal of Case Reports
https://www.readbyqxmd.com/read/27613009/vitamin-d-receptor-gene-polymorphisms-and-lumbar-disc-degeneration-a-systematic-review-and-meta-analysis
#17
Hua Jiang, Zhilin Qin, Shaohui Zong, Maolin He, Xinli Zhan, Zengming Xiao, Qingjun Wei
PURPOSE: To examine the association between Vitamin D receptor (VDR) gene polymorphisms and lumbar disc degeneration (LDD) predisposition. METHODS: A comprehensive literature search was conducted to identify all the relevant studies. The allele/genotype frequencies were extracted from each study. We calculated the pooled odds ratios (ORs) and 95 % confidence intervals (CI) to assess the strength of the association between the VDR gene polymorphisms and LDD risk...
September 9, 2016: European Spine Journal
https://www.readbyqxmd.com/read/27594289/molecular-characterization-and-chronobiology-of-hypodermosis-in-cattle-slaughtered-in-the-diyarbakir-province-of-turkey
#18
Duygu Neval Sayın İpek
OBJECTIVE: The aim of present study was to investigate the chronobiology and identification of Hypoderma species in cattle slaughtered in the Diyarbakir Province of Turkey. METHODS: In total, 736 hides and subcutaneous tissue of slaughtered cattle were examined for the presence of second- and third-instar larvae in the slaughterhouse between November 2012 and May 2013. Third-instar larvae were collected from the slaughterhouses, and gDNA isolates were examined by PCR-RFLP analysis of the cytochrome c oxidase I (COI) gene of mt-DNA using TaqI enzyme...
December 0: Türkiye Parazitolojii Dergisi
https://www.readbyqxmd.com/read/27588085/molecular-variation-analysis-of-aspergillus-flavus-using-polymerase-chain-reaction-restriction-fragment-length-polymorphism-of-the-internal-transcribed-spacer-rdna-region
#19
Majid Zarrin, Maryam Erfaninejad
Aspergillus flavus is the second most common disease-causing species of Aspergillus in humans. The fungus is frequently associated with life-threatening infections in immunocompromised hosts. The primary aim of the present study was to analyze the genetic variability among different isolates of A. flavus using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP). A total of 62 A. flavus isolates were tested in the study. Molecular variability was searched for by analysis of the PCR amplification of the internal transcribed spacer (ITS) regions of ribosomal DNA using restriction enzymes...
September 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27580593/relationship-among-methadone-dose-polymorphisms-of-dopamine-d2-receptor-and-tri-dimensional-personality-questionnaire-in-heroin-addicted-patients
#20
Min-Wei Huang, Tai-An Chiang, Pei-Yu Lo, Ching-Shan Huang
BACKGROUND: We investigated whether variation in the dopamine D2 receptor gene (DRD2) and tri-dimensional personality questionnaire (TPQ) scores could be used to aid adjustment of daily methadone requirements of heroin addicts. DRD2 TaqI B polymorphisms and TPQ scores were determined in 138 male Taiwanese heroin addicts who were receiving methadone treatment. Borderline index (harm avoidance + novelty seeking-reward dependence) was calculated for each subject, and three groups were defined: high (mean from all subjects plus 1 standard deviation, or greater), low (half of the calculated high score, or lower) and medium (all values between the high and low scores)...
2016: Behavioral and Brain Functions: BBF
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