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Marco Guarene, Carla Badulli, Anna L Cremaschi, Ilaria Sbarsi, Rosalia Cacciatore, Carmine Tinelli, Annamaria Pasi, Paola Bergamaschi, Cesare G Perotti
INTRODUCTION: Allele-level donor-recipient match at HLA-A, HLA-B, HLA-C and HLA-DRB1 loci impacts the outcome after cord blood transplantation for hematologic malignancies and modifies the strategy of donor selection. High definition of both class I and II HLA loci at time of listing is a way to improve the attractiveness of cord blood bank inventories, reducing the time for donor search and procurement and simplifying donor choice, in particular, for patients of non-European heritage...
March 1, 2018: International Journal of Artificial Organs
Sébastien Rinaldetti, Markus Pfirrmann, Kirsi Manz, Joelle Guilhot, Christian Dietz, Panayiotidis Panagiotidis, Birgit Spiess, Wolfgang Seifarth, Alice Fabarius, Martin Müller, Maria Pagoni, Maria Dimou, Jolanta Dengler, Cornelius F Waller, Tim H Brümmendorf, Regina Herbst, Andreas Burchert, Carsten Janβen, Maria Elisabeth Goebeler, Philipp J Jost, Stefan Hanzel, Philippe Schafhausen, Gabriele Prange-Krex, Thomas Illmer, Viktor Janzen, Martine Klausmann, Robert Eckert, Gerd Büschel, Alexander Kiani, Wolf-Karsten Hofmann, François-Xavier Mahon, Susanne Saussele
INTRODUCTION: Tyrosine kinase inhibitors (TKIs) can safely be discontinued in chronic myeloid leukemia (CML) patients with sustained deep molecular response. ABCG2 (breast cancer resistance protein), OCT1 (organic cation transporter 1), and ABCB1 (multidrug resistance protein 1) gene products are known to play a crucial role in acquired pharmacogenetic TKI resistance. Their influence on treatment-free remission (TFR) has not yet been investigated. MATERIALS AND METHODS: RNA was isolated on the last day of TKI intake from peripheral blood leukocytes of 132 chronic phase CML patients who discontinued TKI treatment within the European Stop Tyrosine Kinase Inhibitor Study trial...
February 8, 2018: Clinical Lymphoma, Myeloma & Leukemia
Ryan D Oliveira, Michelle R Mousel, Kristy L Pabilonia, Margaret A Highland, J Bret Taylor, Donald P Knowles, Stephen N White
Coxiella burnetii is a globally distributed zoonotic bacterial pathogen that causes abortions in ruminant livestock. In humans, an influenza-like illness results with the potential for hospitalization, chronic infection, abortion, and fatal endocarditis. Ruminant livestock, particularly small ruminants, are hypothesized to be the primary transmission source to humans. A recent Netherlands outbreak from 2007-2010 traced to dairy goats resulted in over 4,100 human cases with estimated costs of more than 300 million euros...
2017: PloS One
Y Al-Lahham, A K B Mendes, E M Souza, D Alberton, F G M Rego, G Valdameri, G Picheth
Type 1 diabetes (T1D) is an autoimmune disease with a strong genetic component that has been associated with several genetic loci. Interleukin 18 (IL-18) is a potent proinflammatory cytokine, which is involved in the innate and adaptive immune responses, and in the pathogenesis of various diseases including T1D. Glucose transporter 4 (GLUT4) is known to be an insulin-responsive glucose transporter and has been associated with various diseases, including diabetes mellitus. We investigated the association of the polymorphisms rs187238 (IL-18) and rs5435 (GLUT4) in a case-control study in Euro-Brazilians with T1D (N = 136) and healthy subjects (N = 144)...
September 21, 2017: Genetics and Molecular Research: GMR
Amanda Salviano-Silva, Maria Luiza Petzl-Erler, Angelica Beate Winter Boldt
Pemphigus foliaceus (PF) is an autoimmune disease, endemic in Brazilian rural areas, characterized by acantholysis and accompanied by complement activation, with generalized or localized distribution of painful epidermal blisters. CD59 is an essential complement regulator, inhibiting formation of the membrane attack complex, and mediating signal transduction and activation of T lymphocytes. CD59 has different transcripts by alternative splicing, of which only two are widely expressed, suggesting the presence of regulatory sites in their noncoding regions...
May 23, 2017: Autoimmunity
S W Souza, L P Alcazar, P A Arakaki, I C R Santos-Weiss, D Alberton, G Picheth, F G M Rego
Insulin secretion is regulated by ATP-sensitive potassium channels (KATP). The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene, located on chromosome 11p15.1, encodes the subunit Kir6.2 that forms the pore region of KATP channels in pancreatic β-cells. Among the single nucleotide polymorphisms (SNPs) associated with KCNJ11, the E23K polymorphism (rs5219) promotes a substitution (G > A) of a glutamic acid residue for lysine at position 23. The E23K SNP has been associated with diabetes in several populations, although with controversial results...
April 5, 2017: Genetics and Molecular Research: GMR
A Teleginski, M Welter, H R Frigeri, R R Réa, E M Souza, D Alberton, F G M Rego, G Picheth
Leptin (LEP), a protein that plays a fundamental role in the metabolism of energy reserves, and the solute carrier family 30 A8 zinc transporter (SLC30A8) have been consistently associated with diabetes. Women with gestational diabetes are at moderate risk of developing diabetes type 1 and 2 after pregnancy, in addition to complications to the fetus. We investigated the association of the polymorphisms rs7799039 (LEP) and rs13266634 (SLC30A8) in a case-control study in Euro-Brazilians with gestational diabetes (GDM, N = 134) and healthy pregnant women (control, N = 180)...
March 30, 2017: Genetics and Molecular Research: GMR
Zufan Bedewi, Adane Worku, Yalemtsehay Mekonnen, Getnet Yimer, Girmay Medhin, Gezahegne Mamo, Rembert Pieper, Gobena Ameni
BACKGROUND: Identification of the types of strains of Mycobacterium tuberculosis (M. tuberculosis) complex causing tuberculosis (TB) could contribute to TB control program of specific geographic region as well as it could add knowledge onto the existing literature on TB worldwide. The objective of the present study was to identify the species and strains of M. tuberculosis complex causing pulmonary tuberculosis in central Ethiopia. METHODS: A health institution- based cross-sectional study was conducted on 338 smear positive TB cases visiting three hospitals between October 2012 and September 2013...
March 1, 2017: BMC Infectious Diseases
D A S de Souza, F R Faucz, R B de Alexandre, M A Santana, E L S de Souza, F J C Reis, L Pereira-Ferrari, V S Sotomaior, L Culpi, J A Phillips, S Raskin
Cystic fibrosis (CF) is a common autosomal recessive disorder, being the p.F508del the most frequent mutation. Also, a nearby restriction fragment length polymorphism (RFLP) named XK (KM19 and XV2C) is non-randomly associated with specific CF alleles. Our aim was to analyze the occurrence of the p.F508del mutation and XK haplotypes in Afro-Brazilians CF patients and controls, since these data is available for the other two main ethnic groups found in Brazil (Euro-Brazilians and Brazilian Amerindians), contributing for the whole comprehension of these haplotypes in the Brazilian population...
February 2017: Genetica
Ana Paula Avenia Silvestre, Joana Maira Valentini Zacarias, Gláucia Andréia Soares Guelsin, Jeane Eliete Laguila Visentainer, Ana Maria Sell
The frequency distributions of HPA-1 to HPA-6 and HPA-15 were evaluated in two Brazilian populations from Parana: a mixed population of predominantly Caucasians and a population of Japanese descendants. Genotyping was performed by PCR-SSP in 364 unrelated individuals. Differences in the distribution of HPA highlight diversity in Brazilian miscegenation and the importance of formation of the HPA panel composed of regional blood donors.
September 2017: Platelets
C-A Pardo, R N Tan, C Hennequin, R Beyrouthy, R Bonnet, F Robin
Plasmid-mediated quinolone resistance mechanisms have become increasingly prevalent among Enterobacteriaceae strains since the 1990s. Among these mechanisms, AAC(6')-Ib-cr is the most difficult to detect. Different detection methods have been developed, but they require expensive procedures such as Sanger sequencing, pyrosequencing, polymerase chain reaction (PCR) restriction, or the time-consuming phenotypic method of Wachino. In this study, we describe a simple matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) method which can be easily implemented in clinical laboratories that use the MALDI-TOF technique for bacterial identification...
December 2016: European Journal of Clinical Microbiology & Infectious Diseases
F M B Zambra, V Biolchi, C C S de Cerqueira, I S Brum, E C Castelli, J A B Chies
Human leukocyte antigen G (HLA-G) is an immunomodulatory molecule with important roles both physiologically as well as an escape mechanism of cancer cells. In this study, we evaluated the impact of eight polymorphisms at the 3' untranslated region (3'UTR) of the HLA-G gene in the development of prostate cancer (PCa) and benign prostatic hyperplasia (BPH). A total of 468 DNA samples of Brazilian men predominantly Euro-descendant with PCa (N = 187), BPH (N = 152) and healthy control individuals (N = 129) were evaluated...
February 2016: HLA
Michael Lang, Olga Nagy, Claus Lang, Virginie Orgogozo
Sample homogenization is an essential step for genomic DNA extraction, with multiple downstream applications in Molecular Biology. Genotyping hundreds or thousands of samples requires an automation of this homogenization step, and high throughput homogenizer equipment currently costs 7000 euros or more. We present an apparatus for homogenization of individual Drosophila adult flies in 96-well micro-titer dishes, which was built from a small portable paint-shaker (F5 portable paint-shaker, Ushake). Single flies are disrupted in each well that contains extraction buffer and a 4-mm metal ball...
2015: Fly
Ting Ren, Shiri Liang, Ayong Zhao, Ke He
To understand the phyletic evolution of geese, the complete mitogenome of the Zhedong goose was sequenced for the first time. It is composed of 37 genes and 1 control region, and the structure and arrangement of all genes sequenced are identical to those of other goose breeds. We confirmed the accuracy of the mitogenome sequence through RT-PCR and found numts from amplification in genomic DNA. Comparisons of the phylogenetic trees and sequences of geese that were suggested a clade of Chinese geese, except the Yili goose, were classified in the Euro clade...
February 10, 2016: Gene
Sominina Anna, Elena Burtseva, Mikhail Eropkin, Ludmila Karpova, Vladimir Zarubaev, Elizaveta Smorodintseva, Nadezhda Konovalova, Daria Danilenko, Alexandra Prokopetz, Mikhail Grudinin, Maria Pisareva, Pavel Anfimov, Kirill Stolyarov, Oleg Kiselev, Elena Shevchenko, Valeriya Ivanova, Svetlana Trushakova, Nataliya Breslav, Dmitriy Lvov, Alexander Klimov, Ann Moen, Nancy Cox
Exchange of information on and sharing of influenza viruses through the GISRS network has great significance for understanding influenza virus evolution, recognition of a new pandemic virus emergence and for preparing annual WHO recommendations on influenza vaccine strain composition. Influenza surveillance in Russia is based on collaboration of two NICs with 59 Regional Bases. Most epidemiological and laboratory data are entered through the internet into the electronic database at the Research Institute of Influenza (RII), where they are analyzed and then reported to the Ministry of Public Health of Russia...
2013: American Journal of Infectious Diseases
Letícia Carneiro Gomes, Marciane Welter, Luiza Cristina Gobor, Izabella Castilhos Ribeiro Santos-Weiss, Suzana Nesi França, Dayane Alberton, Geraldo Picheth, Fabiane Gomes Rego
RAGE promoter polymorphisms are associated with increases in RAGE expression. A case-control association study was conducted involving a Euro-Brazilian population of children and adolescents with type 1 diabetes (n = 90) and healthy controls (n = 105), which were matched by sex and age. Genotyping by PCR-RFLP the -429T>C (rs1800625), -374T>A (rs1800624), and 63 bp deletion/insertion (-407 to -345 bp) showed no significant differences (P > 0.05) between the groups.
December 2015: Molecular and Cellular Probes
Panagiotis Petrou, Sofia Dias
BACKGROUND: The increasing use of drug eluting stents in interventional cardiology calls for assessment of their efficacy and safety, both among drug-eluting and bare-metal stents, in the context of rational decision making. METHODS: We searched for papers that compared any of the sirolimus-eluting stent, paclitaxel-eluting stent, drug- eluting stent, biodegradable stent, everolimus-eluting stent, zotarolimus-resolute eluting stent, biolimus- eluting stent, bare-metal stent and zotarolimus-eluting stent...
January 1, 2016: International Journal of Cardiology
Stefanie Epp Boschmann, Angelica Beate Boldt, Ilíada Rainha de Souza, Maria Luiza Petzl-Erler, Iara Jose Messias-Reason
OBJECTIVE: The aim of this study was to investigate the frequency of the LCT*-13910C>T polymorphism associated with a high expression of lactase in the small intestine during adulthood, and to infer the lactase persistence and adult-type hypolactasia phenotypes among Euro-Brazilians and Mennonites from South Brazil. MATERIALS AND METHODS: A sequence-specific PCR method to genotype the LCT*-13910C>T polymorphism in 292 Euro-Brazilians and 151 Mennonites (a group with European ancestry and a long history of endogamy) was developed...
2016: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
Muluwork Getahun, Gobena Ameni, Abebaw Kebede, Zelalem Yaregal, Elena Hailu, Grimay Medihn, Daniel Demssie, Feven Girmachew, Yetnebersh Fiseha, Abyot Meaza, Nathneal Dirse, Mulualem Agonafir, Feleke Dana, Fasil Tsegaye, Zeleke Alebachew, Almaz Abebe, Amha Kebede, Eshetu Lemma
BACKGROUND: The identification of circulating TB strains in the community and drug sensitivity patterns is essential for the tuberculosis control program. This study was undertaken to identify M. tuberculosis strains circulating in selected communities in Ethiopia as well as to evaluate the drug sensitivity pattern of these strains. METHOD: This study was a continuation of the Ethiopian National TB Prevalence Survey that was conducted between 2010 and 2011. Culture-positive isolates of M...
August 6, 2015: BMC Public Health
Kiatichai Faksri, Rattanavinan Hanchaina, Arunnee Sangka, Wises Namwat, Viraphong Lulitanond
An appreciation of the genetic diversity of Mycobacterium tuberculosis (Mtb) is needed for effective planning of strategies in tuberculosis (TB) control. Large sequence polymorphisms (LSPs) are the molecular epidemiological and evolutionary markers for classification of Mtb into East Asian (EA) or Beijing, Indo-Oceanic (IO), Euro-American (EuA) and East African-Indian (EAI) lineages. We aimed to develop a single-tube multiplex real-time PCR assay using melting curve analysis for lineage classification of Mtb based on LSPs...
July 2015: Tuberculosis
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