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Genotyping blood Group

Rebecca K Poole, Thomas L Devine, Kyle J Mayberry, Joan H Eisemann, Matt H Poore, Nathan M Long, Daniel H Poole
Fescue toxicosis is a multifaceted syndrome common in cattle grazing endophyte-infected tall fescue. The objective of this study was to evaluate the impact of the slick hair trait on physiological and reproductive parameters in heifers experiencing fescue toxicosis. Angus × Senepol heifers (n = 31) were blocked by weight (393.5 ± 17.3 kg) and phenotype relative to hair coat at birth, and randomly fed novel endophyte fescue (EN) or endophyte-infected fescue (EI) haylage in a total mixed ration for 91 d. Weekly measurements were collected to monitor heifer growth and response during ergot alkaloids exposure...
February 17, 2019: Journal of Animal Science
Taciana Pereira Sant'Ana Santos, Mariana de Menezes Pereira, Maria Isabel Schinoni, Geraldo Pedral Sampaio, Roque Aras, Maria Luiza Sousa Atta, Ajax M Atta
There appears to be an associative link between chronic hepatitis C (CHC) and cardiovascular diseases (CVDs). However, the exact nature of the relationship between CHC and CVDs has not been elucidated. We investigated the presence of CVDs and the clinical and laboratory alterations associated with these diseases in CHC patients. Twenty-six CHC patients, 35 individuals with atherosclerosis (Athero) and 27 healthy individuals were examined for risk factors for CVD, lipid profile, atherogenic risk indexes, and insulin resistance (IR)...
February 13, 2019: Cytokine
Piotr Zmijewski, Paweł Cięszczyk, Ildus I Ahmetov, Piotr Gronek, Ewelina Lulińska-Kuklik, Marcin Dornowski, Agata Rzeszutko, Jakub Chycki, Waldemar Moska, Marek Sawczuk
Endothelial nitric oxide synthase (NOS3) generates nitric oxide in blood vessels and is involved in the regulation of vascular function, metabolism and muscle fibre type transformations. Evidence suggests that the NOS3 G894T (rs1799983) and -786T/C (rs2070744) polymorphisms are associated with athletic performance. The purpose of this study was to determine the association between the NOS3 G894T and -786T/C polymorphisms with elite swimmer status in Polish athletes. One hundred and ninety-seven Polish swimmers (104 males and 93 females), who competed in national and international events, and 379 healthy control subjects (222 males and 157 females) were recruited for this study...
December 2018: Biology of Sport
Maha Daghestani, Rituraj Purohit, Mazin Daghestani, Mamoon Daghistani, Arjumand Warsy
The Gln233Arg (A>G; rs1137101) polymorphism of the leptin receptor gene (LEPR) has been investigated extensively and is reported to be associated with different metabolic states. In this investigation, we aimed to study the frequency of Gln233Arg genotypes and alleles in a group of Saudi women stratified by their body mass index (BMI), to correlate the LEPR genotypes with variations in anthropometric, lipid and hormonal parameters and to investigate conformational and structural variations in the mutant LEPR using molecular dynamic (MD) investigations...
2019: PloS One
Dilek Torun, Baris Soydas, Nihan Tekkarismaz, Ruya Ozelsancak, Hasan Micozkadioglu, Mehmet Haberal
INTRODUCTION: Hepatitis C virus (HCV) infection is associated with increased mortality and morbidity in kidney transplant patients. The ability to establish a sustained viral response before renal transplant is important for these patients. Direct-acting antiviral agents can increase the sustained viral response in most patients with HCV infection. In this case series, we aimed to determine the efficacy and safety of a combined therapy of ombitasvir, paritaprevir, ritonavir, and dasabuvir with or without ribavirin in patients with HCV genotype 1 infection without cirrhosis and on hemodialysis who were awaiting deceased-donor kidney transplant...
February 14, 2019: Hemodialysis International
Nuran Ustun, Nilnur Eyerci, Nilgun Karadag, Ahmet Yesilyurt, Aysegul Zenciroglu, Nurullah Okumus
BACKGROUND: Vitamin D and its receptor (VDR) have important roles in perinatal lung development. The objective of this study was to investigate the possible association between VDR FokI and TaqI polymorphism and development of respiratory distress syndrome (RDS) in preterm infants. METHOD: A total of 173 premature infants < 34 weeks: 82 with RDS and 91 without RDS were enrolled. Genotyping of VDR polymorphisms were assayed by real-time PCR. Serum 25-hydroxyvitamin D (25-OHD) levels were measured by ELISA in blood samples that were obtained at the time of admission to the neonatal intensive care unit...
February 13, 2019: Journal of Maternal-fetal & Neonatal Medicine
Lilian A Boateng, Andrew D Campbell, Robertson D Davenport, Alex Osei-Akoto, Sheri Hugan, Akwasi Asamoah, Henk Schonewille
BACKGROUND: The routine pretransfusion investigations in Southern Ghana involve only ABO-D blood group typing and ABO compatibility testing without screening for irregular red blood cell (RBC) antibodies. The prevalence and specificities of RBC antibodies and frequencies of most minor blood group antigens in transfused patients with sickle cell disease (SCD) in Ghana are not known and are the objectives of this study. STUDY DESIGN AND METHODS: This was a cross-sectional study that investigated transfused patients with SCD for the presence of irregular RBC antibodies and Rhesus, Kell, Duffy, Kidd, and Ss antigens...
February 13, 2019: Transfusion
Luděk Rožnovský, Libuše Kabieszová, Jakub Mrázek, Alena Kloudová, Lenka Petroušová, Irena Orságová, Michaela Konečná
BACKGROUND: Vertical hepatitis C virus (HCV) transmission and persistence of anti-HCV antibodies were retrospectively investigated since 1999 in a group of 244 children whose mothers had a history of hepatitis C. MATERIAL AND METHODS: Initial examinations performed in most children at 6 months of age included the determination of anti-HCV antibodies, HCV nucleic acid (HCV RNA), and anti-HIV antibodies, with all children being negative for HIV. Further examinations with investigation of anti-HCV and HCV RNA were performed at half-year intervals until the disappearance of anti-HCV antibodies...
December 2018: Klinická Mikrobiologie a Infekc̆ní Lékar̆ství
Alastair J Sandilands, Kevin M O'Shaughnessy, Y Yasmin
Background: Activation of beta-1 adrenoreceptors (β1-AR) in the kidney releases renin that plays a major role in the maintenance of blood pressure. Genetic variation in the β1-AR could therefore alter the physiological and clinical effects of this hormone. We tested this hypothesis in patients from a primary care cohort being screened for primary hyperaldosteronism, PHA (n=465). Methods: Demographic and haemodynamic data were measured and plasma renin determined by a standard immunoassay...
February 11, 2019: American Journal of Hypertension
L Chen, Y Wei, W Chi, D Fang, X Jiang, S Zhang
PURPOSE: Pathologic myopia is a leading cause of visual impairment in East Asia. The aim of this study was to investigate the potential mutations in Chinese pathologic myopic patients and to analyze the correlations between genotype and clinical phenotype. METHODS: One hundred and three patients with pathologic myopia and one hundred and nine unrelated healthy controls were recruited from Zhongshan Ophthalmic Center. Detailed clinical data, including ultra-widefield retinal images, measurements of best-corrected visual acuity, axial length, refractive error and ophthalmic examination results, were obtained...
February 11, 2019: Current Molecular Medicine
Kshitij Srivastava, Kurt R Wollenberg, Willy A Flegel
BACKGROUND: Sequence information generated from next generation sequencing is often computationally phased using haplotype-phasing algorithms. Utilizing experimentally derived allele or haplotype information improves this prediction, as routinely used in HLA typing. We recently established a large dataset of long ERMAP alleles, which code for protein variants in the Scianna blood group system. We propose the phylogeny of this set of 48 alleles and identify evolutionary steps to derive the observed alleles...
February 11, 2019: Journal of Translational Medicine
Fang Liu, Xiaohong Gong, Xudong Yao, Lingling Cui, Zhiyang Yin, Chao Li, Yanqing Tang, Fei Wang
BACKGROUND: Calcium voltage-gated channel auxiliary subunit β2 is a protein that, in humans, is encoded by the CACNB2 gene. The β2 subunit is an auxiliary protein of voltage-gated calcium channels, which is predominantly expressed in hippocampal pyramidal neurons. A single-nucleotide polymorphism at the CACNB2 gene (rs11013860) has been reported in genome-wide association studies to be associated with bipolar disorder (BD). However, the neural effects of rs11013860 expression are unknown...
February 11, 2019: BMC Psychiatry
Cut Aria Arina, Darwin Amir, Yahwardiah Siregar, Rosita J Sembiring
BACKGROUND: Stroke is a leading cause of disability and remains the second leading cause of death in the world. Some of the pathogenesis of stroke are interactions between genetic and acquired risk factors, the interaction is related with the atherosclerotic which is the main pathogenesis of ischaemic stroke. Previous studies demonstrated an association between methylene tetra hydro folate reductase (MTHFR) genotype and ischaemic stroke; the MTHFR C677T genotype is one of the independent risk factor...
January 15, 2019: Open Access Macedonian Journal of Medical Sciences
Yu-Ping Xie, Ying-Ping Cao, Xian-Jin Zhu, Hong-Jin Liu, Jin Liu, Wen-Juan Zhou, Ping-Xia Lu
OBJECTIVE: To analyze the genotypes and the hematological phenotypic characteristics of α-thalassemia in different areas of Fujian and to evaluate the values of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), hemoglobin (Hb), RBC distribution width/red blood cell (RDW/RBC) for screening α-thalassemia in this area. METHODS: The Gap-PCR assay was applied for detecting 3 common deletional mutations of patients with α-thalassemia, and the reverse dot-blot (RDB) assay was adopted to detect the foci of 3 common non-deletional gene mutations...
February 2019: Zhongguo Shi Yan Xue Ye Xue za Zhi
Diana Luise, Vincenzo Motta, Micol Bertocchi, Chiara Salvarani, Paolo Clavenzani, Flaminia Fanelli, Uberto Pagotto, Paolo Bosi, Paolo Trevisi
Putative genetic markers have been associated with ETEC F4 (Mucine 4 [MUC4]; MUC4GG;CG as susceptible; MUC4CC as resistant) and F18 (Fucosyltransferase 1 [FUT1]; FUT1GG;AG as susceptible; FUT1AA as resistant) resistances respectively. In this study, 71 post-weaning pigs were followed from d0 (35 days old) to d42 (77 days of age) to investigate the effect of MUC4 or FUT1 genotypes on the mid-jejunal microbiota composition, pigs expression of genes related to inflammation (IL8, GPX2, REG3G, TFF3, CCL20 and LBPI) and glycomic binding pattern profile (Ulex europaeus agglutinin I [UEA] fucose-binding lectin and peanut agglutinin [PNA] galactose-specific), and on blood plasma targeted metabolomics profile, faecal score and performance parameters of growing healthy pigs...
February 7, 2019: Journal of Animal Physiology and Animal Nutrition
Marzia Del Re, Saverio Cinieri, Angela Michelucci, Stefano Salvadori, Fotios Loupakis, Marta Schirripa, Chiara Cremolini, Stefania Crucitta, Cecilia Barbara, Angelo Di Leo, Tiziana Pia Latiano, Filippo Pietrantonio, Samantha Di Donato, Paolo Simi, Alessandro Passardi, Filippo De Braud, Giuseppe Altavilla, Claudio Zamagni, Roberto Bordonaro, Alfredo Butera, Evaristo Maiello, Carmine Pinto, Alfredo Falcone, Valentina Mazzotti, Riccardo Morganti, Romano Danesi
Dihydropyrimidine dehydrogenase (DPYD) is a highly polymorphic gene and classic deficient variants (i.e., c.1236G>A/HapB3, c.1679T>G, c.1905+1G>A and c.2846A>T) are characterized by impaired enzyme activity and risk of severe adverse drug reactions (ADRs) in patients treated with fluoropyrimidines. The identification of poor metabolizers by pre-emptive DPYD screening may reduce the rate of ADRs but many patients with wild-type genotype for classic variants may still display ADRs. Therefore, the search for additional DPYD polymorphisms associated with ADRs may improve the safety of treatment with fluoropyrimidines...
February 6, 2019: Pharmacogenomics Journal
Wael Mansy, Nermin H Ibrahim, Somaya Al-Gawhary, Sarah S Alsubaie, Manal M Abouelkheir, Amal Fatani, Fadwa Abd Al Reheem, Heba El Awady, Enas A Zakaria
There is a significant association exists between vitamin D deficiencies, low respiratory tract infections, and certain types of VDR gene polymorphism. Various studies are being conducted to prove any such link between the different clinical conditions due to disturbed vitamin D regulation and VDR gene polymorphisms. The present study analyzed the presence of vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in Saudi pediatric patient suffering from acute lower respiratory tract infection (ALRTI) cases...
February 5, 2019: Molecular Biology Reports
Tong Lu, Xu Zhu, Shansen Xu, Mingming Zhao, Xueshi Huang, Zhanyou Wang, Limei Zhao
PURPOSE: The objective of this study was to merge genetic and non-genetic factors of tacrolimus pharmacokinetics to establish a more stable population pharmacokinetic model for individualized dosage regimen in Chinese nephrotic syndrome patients. METHODS: Nephrotic syndrome patients (>16 years old) treated with tacrolimus were included in the study. The population pharmacokinetic approach was analyzed using NONMEM version 7.3.0 software. Monte Carlo simulations were performed to optimize the dosage according to the population pharmacokinetic parameters of tacrolimus...
February 4, 2019: Pharmaceutical Research
Vikas Jhawat, Sumeet Gupta, Bimal K Agarwal, Partha Roy, Vipin Saini
Background: Antihypertensive drug therapies have been reported to be associated with new onset of type 2 diabetes mellitus in some hypertensive patients after prolonged use. Angiotensin converting enzyme (ACE) gene has been found to affect essential hypertension, response of antihypertensive therapies, and glycemic disturbances. Therefore, ACE gene I/D polymorphism may be associated with risk of new onset of type 2 diabetes via metabolic disturbances, glycemic dysregulation, and insulin resistance...
2019: Clinical Medicine Insights. Endocrinology and Diabetes
Josyandra Paula de Freitas Rosa, Raphael Federicci Haddad, Fabiana Garcia Reis Maeda, Ricardo Peres Souto, Cesar Eduardo Fernandes, Emerson de Oliveira
OBJECTIVE:  To evaluate the rs42524 polymorphism of the procollagen type I alpha (α) 2 ( COL1A2 ) gene as a factor related to the development of pelvic organ prolapse (POP) in Brazilian women. METHODS:  The present study involved 112 women with POP stages III and IV (case group) and 180 women with POP stages zero and I (control group). Other clinical data were obtained by interviewing the patients about their medical history, and blood was also collected from the volunteers for the extraction of genomic DNA...
January 2019: Revista Brasileira de Ginecologia e Obstetrícia
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