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Genotyping blood Group

Ernesto G Miranda-Morales, Ada Sandoval-Carrillo, Francisco X Castellanos-Juárez, Edna M Méndez-Hernández, Osmel La Llave-León, Gerardo Quiñones-Canales, Luis A Ruano-Calderón, Oscar Arias-Carrión, Jose M Salas-Pacheco
Parkinson's disease (PD) is characterized by bradykinesia, resting tremor, rigidity and disequilibrium as well as early symptoms. Previous studies that evaluated the association between H1/H2 MAPT haplotype and PD were mostly conducted in European populations in which the H1 haplotype was a reported risk factor for PD. Despite those findings, some studies have suggested that the association may be ethnically dependent. Since studies conducted in Latin American population have been scarce, we genotyped the H1/H2 MAPT haplotype in Mexican mestizo population as part of a PD case-control study...
October 16, 2018: Neuroscience Letters
François Girardin, Natalie Hearmon, Francesco Negro, Lucy Eddowes, Philip Bruggmann, Erika Castro
People who inject drugs (PWID) are a key high-risk group for HCV infection due to the sharing of needles and drug-preparation equipment. However, only approximately 50% of PWID are currently screened for HCV in Switzerland. At present, screening of PWID occurs in general practice via venepuncture. Compared to venepuncture, screening via rapid antibody saliva and dried blood spot (DBS) tests is well adapted to PWID, who typically have difficult venous access. The cost-effectiveness of an increased access screening programme of PWID (increased screening using rapid antibody saliva tests and DBS tests [semi-quantitative viraemia and viral genotype]) was analysed through a decision tree screening model combined with the outputs of a Markov treatment model...
October 19, 2018: Journal of Viral Hepatitis
Adam M Coughlin, Paul R Nagelkirk, Jamie A Cooper, Chad M Paton, Karen H Friderici, Byron A Wingerd, James M Pivarnik, Christopher J Womack
The purpose was to determine if the Alu-insertion (I)/deletion (D) polymorphism of the tissue plasminogen activator (tPA) gene influences the tPA response to maximal exercise. Fifty male subjects (age = 23.6 ± 4.7 yrs) completed a maximal treadmill exercise test. Blood samples were drawn before and immediately after exercise for determination of plasma tPA antigen and activity. Isolated DNA was amplified via polymerase chain reaction, electrophoresed, and visually amplified to determine tPA genotype. Subjects were classified as possessing the D allele (D) (n = 28) or being homozygous for the I allele (I) (n = 22)...
2018: International Journal of Exercise Science
Wajnat A Tounsi, Tracey E Madgett, Neil D Avent
The Rh blood group system (ISBT004) is the second most important blood group after ABO and is the most polymorphic one, with 55 antigens encoded by 2 genes, RHD and RHCE This research uses next-generation sequencing (NGS) to sequence the complete RHD gene by amplifying the whole gene using overlapping long-range polymerase chain reaction (LR-PCR) amplicons. The aim was to study different RHD alleles present in the population to establish reference RHD allele sequences by using the analysis of intronic single-nucleotide polymorphisms (SNPs) and their correlation to a specific Rh haplotype...
October 23, 2018: Blood Advances
Ying Qian, Mohan Song, Xi Jiang, Ming Xia, Jarek Meller, Ming Tan, Yutao Chen, Xuemei Li, Zihe Rao
Human noroviruses (huNoVs) that cause epidemic acute gastroenteritis recognize histo-blood group antigens (HBGAs) as host attachment factors affecting host susceptibility. HuNoVs are genetically diverse, containing at least 31 genotypes in the two major genogroups (GI and GII). Three GII genotypes, GII.17/13/21, form a unique genetic lineage, in which GII.17 genotype retains the conventional GII HBGA binding site (HBS), while GII.13/21 genotypes acquire a completely new HBS. To understand the molecular bases behind these evolutionary changes, we solved the crystal structures of the HBGA-binding protruding domains of 1) an early GII...
October 17, 2018: Journal of Virology
Seyedeh Zahra Sadrossadati, Mohammad Ghahri, Abbas Ali Imani Fooladi, Shirin Sayyahfar, Sedigheh Beyraghi, Zohre Baseri
Background and Purpose: Candidemia is one of the most important fungal infections caused by Candida species. Infections and mortality caused by Candida species have been on a growing trend during the past two decades. The resistance of yeasts to antifungal drugs and their epidemiological issues have highlighted the importance of accurately distinguishing the yeasts at the species level. The technique applied for yeast identification should be fast enough to facilitate the imminent initiation of the appropriate therapy...
June 2018: Advances in Medical Mycology (Iran)
Antoine Barbari, Aline Milane, Pascale Salameh, Jennifer Abi Younis, Abir El Houjairy, Katia Safi, Ikram Sabaa Ayoun, Mahassen Jaafar, Line Bou Khalil, Ali Bachir, Nadine Bassil, Hussein Karnib, Nina Morad, Sylvana Rizk, Marwan Masri
OBJECTIVES: The relationship between chronic kidney disease and cardiovascular disease is complex and bidirectional. This relationship may be partially linked to thrombophilic genetic anomalies that may predispose to the progression of both diseases. MATERIALS AND METHODS: We analyzed blood samples from 102 Lebanese patients with end-stage renal disease and undergoing hemodialysis and 20 randomly selected healthy volunteers for frequencies of 12 cardiovascular disease gene mutations and traditional risk factors...
October 15, 2018: Experimental and Clinical Transplantation
Che-Sheng Chu, Chin-Liang Chu, Chih-Kuang Liang, Ti Lu, Yu-Te Lin, Ming-Yueh Chou, Philip Chik-Keung Chow
OBJECTIVES: The dopaminergic pathway plays a vital role in pain expression. Here, our aim was to investigate the effects of polymorphisms in genes encoding the dopamine active transporter (SLC6A3) and dopamine receptor D2 (DRD2) on preoperative pain expression among patients preparing for orthopedic surgery. METHODS: Chinese elderly patients scheduled for orthopedic surgery were enrolled. The Visual Analogue Scale (VAS) was used to evaluate pain intensity (score range, 0-10; 0 = no pain; 10 = worst pain possible)...
October 14, 2018: Pain Practice: the Official Journal of World Institute of Pain
Han Xia, Hong Liu, Lu Zhao, Evans Atoni, Yujuan Wang, Zhiming Yuan
Banna virus (BAV) is considered to be an emerging human pathogen that is transmitted by blood-sucking insects. BAV was isolated from various species of mosquitoes, midges, and livestock. It is widely distributed geographically, since it was identified in China, Vietnam, and Indonesia. Previously reported evolution studies of BAV indicated that BAV can be divided into two groups, including isolates from China and Vietnam clustered in group A, and Indonesian isolates in group B. In this study, we report the isolation of a new strain of BAV named HB14-71-01 from Anopheles sinensis mosquitoes from Hubei, China...
October 11, 2018: Viruses
Weiming Hao, Xia Xu, Haifeng Shi, Chiyu Zhang, Xiaoxiang Chen
BACKGROUND: Many studies have demonstrated that the genetic variants of tumor suppressor gene TP53 contribute to the prediction of breast cancer risk. However, most of them focused on Europeans and Americans; the investigations about Asians, especially Chinese women, are scarce. Thus, the aim of this study was to explore the influence of TP53 codon 72 and intron 3 16-bp duplication polymorphisms on the breast cancer risk in Chinese women, especially those from eastern China. METHODS: Blood samples collected from 254 breast cancer patients and 252 healthy female individuals were investigated...
October 11, 2018: European Journal of Medical Research
Gustavo Citera, Fernando Dal Pra, Christian A Waimann, Hernan Maldonado Ficco, Teresita Alvarellos, Luciana A Mas, Osvaldo L Cerda, Sergio Paira, Antonio Catalán Pellet, Anastasia Secco, Lucila Marino, María Martire, Josefina Marcos, Mercedes A García, Adrián Salas, Alberto Berman, Horacio Berman, Oscar L Rillo, Liliana Vargas, Edson Velozo, Ricardo Vicente Juarez, María Elena Crespo Espindola
Patients with rheumatoid arthritis (RA) or undifferentiated arthritis (UA) in the CONAART database (Argentine Consortium for Early Arthritis) were assessed for genetic risk factors for RA, specifically for HLA-DRB1 alleles and the PTPN22 rs2476601 polymorphism associated with progression to RA. This is a case-control study. Blood samples were obtained to determine HLA-DRB1 genotypes by PCR-SSO Luminex and PTPN22 (rs2476601) polymorphism by allelic discrimination. A control group of individuals from the general Argentinian population were obtained from the national register of cadaveric organ donors...
October 10, 2018: Clinical Rheumatology
Haoru Li, Jie Yang, Yanlin Chen, Haijun Fu, Xiuguo Jin
OBJECTIVE: To explore the molecular basis for an individual with CisAB subtype of the ABO blood group. METHODS: ABO antigen and serum antibody of the proband were detected with a serological method. Exons 5 to 7 of the ABO gene were amplified with PCR and sequenced bidirectionally. Allele-specific amplification for exon 6 to 7 was also carried out. RESULTS: The proband was assigned as a CisAB phenotype based on his serological characteristics...
October 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Sadaf Moeez, SyedaKiran Riaz, Nosheen Masood, Naghmana Kanwal, Mohammad Ali Arif, Rauf Niazi, Sumbul Khalid
OBJECTIVES: Type 2 diabetes is a complex genetic disorder, and a large number of genetic polymorphisms may be involved in its pathogenesis. Pharmacologically, type 2 diabetes can be treated with 9 different approved classes of drugs, but metformin is suggested as the first line of therapy, followed by sulfonylureas. METHODS: This was a case-control study consisting of 300 metformin responders and 300 metformin nonresponders in patients with type 2 diabetes and 300 healthy Pakistani subjects...
July 17, 2018: Canadian Journal of Diabetes
Manuela Vasconcelos Castro Sales, Claudia K Suemoto, Daniel Apolinario, ValeriaT Serrao, Celi S Andrade, David M Conceição, Edson Amaro, Brian Alvarez Ribeiro de Melo, Rachel P Riechelmann
PURPOSE: Chemotherapy-related cognitive impairment can occur in cancer survivors after treatment, especially those patients who have undergone chemotherapy for breast cancer. The frequency and to what extent such toxicity develops in colorectal cancer (CRC) survivors is unknown. The present prospective study evaluated the effects of adjuvant chemotherapy on the cognitive performance of patients with localized CRC compared with a control group who had not undergone chemotherapy. PATIENTS AND METHODS: Consecutive patients with localized stage II and III CRC completed neuropsychological assessments, self-reported cognitive complaint questionnaires, and depressive symptom evaluations before starting fluoropyrimidine-based adjuvant chemotherapy and after 12 months...
September 13, 2018: Clinical Colorectal Cancer
Rocio Aller, Olatz Izaola, David Primo, Daniel de Luis
INTRODUCTION AND AIMS: Non-alcoholic fatty liver disease (NAFLD) is a spectrum of diseases ranging from simple steatosis without inflammation or fibrosis to nonalcoholic steatohepatitis and in the Western countries has become one of the most prevalent chronic liver diseases related to metabolic and lipid alterations. Cholesteryl ester transfer protein (CETP) participates in high density lipoprotein (HDL)-cholesterol metabolism. The aim of our study was to investigate the influence of polymorphism (rs1800777) of CETP gene on liver histological changes, biochemical parameters, and serum adipokines levels in patients with NAFLD...
October 5, 2018: Annals of Nutrition & Metabolism
Weiqiang Li, Mridu Middha, Mesude Bicak, Daniel D Sjoberg, Emily Vertosick, Anders Dahlin, Christel Häggström, Göran Hallmans, Ann-Charlotte Rönn, Pär Stattin, Olle Melander, David Ulmert, Hans Lilja, Robert J Klein
BACKGROUND: Most men diagnosed with prostate cancer have low-risk cancers. How to predict prostate cancer progression at the time of diagnosis remains challenging. OBJECTIVE: To identify single nucleotide polymorphisms (SNPs) associated with death from prostate cancer. DESIGN, SETTING, AND PARTICIPANTS: Blood samples from 11 506 men in Sweden were collected during 1991-1996. Of these, 1053 men were diagnosed with prostate cancer and 245 died from the disease...
July 7, 2018: European Urology
Dmitry Sychev, Nadezhda Shikh, Tatiana Morozova, Elena Grishina, Kristina Ryzhikova, Elena Malova
Purpose: The aim of this study was to determine the impact of ABCB1 (MDR1) rs1045642 polymorphisms on the efficacy and safety of amlodipine in Caucasian patients. Patients and methods: The 12-week study included 100 patients. Patients with the newly diagnosed stage I-II hypertension (HT) were recruited to complete genotyping of the rs1045642 single-nucleotide polymorphism (SNP). The study design did not include a control group. Before treatment, all patients either did not undergo antihypertensive treatment at all or did not receive regular antihypertensive therapy...
2018: Pharmacogenomics and Personalized Medicine
Dong-Jin Park, Seong-Ho Kim, Seong-Su Nah, Ji Hyun Lee, Seong-Kyu Kim, Yeon-Ah Lee, Seung-Jae Hong, Hyun-Sook Kim, Hye-Soon Lee, Hyoun Ah Kim, Chung-Il Joung, Sang-Hyon Kim, Shin-Seok Lee
BACKGROUND: Several lines of evidence imply that brain-derived neurotrophic factor (BDNF) is involved in the pathophysiology of fibromyalgia (FM); in this regard, patients with FM have altered blood and cerebrospinal fluid levels of BDNF. In this study, we explored the association between BDNF gene polymorphisms and FM susceptibility and the severity of symptoms. METHODS: In total, 409 patients with FM and 423 healthy controls in 10 medical centers were enrolled from the Korean nationwide FM survey...
October 3, 2018: Arthritis Research & Therapy
Andrea Sodi, Ilaria Passerini, Daniela Bacherini, Luca Boni, Simona Palchetti, Vittoria Murro, Orsola Caporossi, Dario Pasquale Mucciolo, Fabrizio Franco, Lorenzo Vannozzi, Francesca Torricelli, Elisabetta Pelo, Stanislao Rizzo, Gianni Virgili
BACKGROUND: The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been suggested as a major risk factor for AMD. Recent evidences supported the role of inflammation in the pathogenesis of some retinal dystrophies. Aim of this study was to evaluate the prevalence of CFHY402H polymorphism in a group of Italian patients affected by atrophic AMD, Stargardt disease (STGD), or retinitis pigmentosa(RP). MATERIALS AND METHODS: Our case-control association study included 116 patients with atrophic AMD, 77 with RP, 86 with STGD, and 100 healthy controls...
October 4, 2018: Ophthalmic Genetics
Laijin Su, Liping Ma, Hui Liu, Feng Zhao, Zhiwei Su, Deqing Zhou
Noroviruses (NoVs) are one of the most important foodborne viral pathogens worldwide. Oysters are common carriers of NoVs and are responsible for their transmission. NoVs recognize human histo-blood group antigens (HBGAs) as receptors. Recent studies indicate that HBGA-like molecules also exist in oyster tissues and that they may play a key role in the binding of NoVs. However, the mechanism by which different genotypes of NoV accumulate in different oyster tissues is unknown. In this study, the presence and distribution of different types of HBGA-like molecules were evaluated in 240 oysters collected from the Shandong Peninsula of People's Republic of China for 1 year...
October 4, 2018: Journal of Food Protection
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