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https://www.readbyqxmd.com/read/28387875/polymorphism-e23k-rs5219-in-the-kcnj11-gene-in-euro-brazilian-subjects-with-type-1-and-2-diabetes
#1
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
https://www.readbyqxmd.com/read/28363002/leptin-rs7799039-and-solute-carrier-family-30-zinc-transporter-rs13266634-polymorphisms-in-euro-brazilian-pregnant-women-with-gestational-diabetes
#2
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
https://www.readbyqxmd.com/read/28249607/molecular-typing-of-mycobacterium-tuberculosis-complex-isolated-from-pulmonary-tuberculosis-patients-in-central-ethiopia
#3
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
https://www.readbyqxmd.com/read/28160168/cystic-fibrosis-in-afro-brazilians-xk-haplotypes-analysis-supports-the-european-origin-of-p-f508del-mutation
#4
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
https://www.readbyqxmd.com/read/28067110/genetic-polymorphisms-of-human-platelet-antigens-in-euro-african-and-japanese-descendants-from-parana-southern-brazil
#5
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.
January 9, 2017: Platelets
https://www.readbyqxmd.com/read/27558110/rapid-detection-of-aac-6-ib-cr-production-using-a-maldi-tof-ms-strategy
#6
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
https://www.readbyqxmd.com/read/26889902/immunogenetics-of-prostate-cancer-and-benign-hyperplasia-the-potential-use-of-an-hla-g-variant-as-a-tag-snp-for-prostate-cancer-risk
#7
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
https://www.readbyqxmd.com/read/26818699/high-throughput-preparation-of-fly-genomic-dna-in-96-well-format-using-a-paint-shaker
#8
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
https://www.readbyqxmd.com/read/26611532/analysis-of-the-complete-mitochondrial-genome-of-the-zhedong-white-goose-and-characterization-of-numts-reveal-domestication-history-of-goose-in-china-and-euro
#9
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
https://www.readbyqxmd.com/read/26561480/influenza-surveillance-in-russia-based-on-epidemiological-and-laboratory-data-for-the-period-from-2005-to-2012
#10
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
https://www.readbyqxmd.com/read/26456846/functional-promoter-polymorphisms-of-the-receptor-for-advanced-glycation-end-products-in-children-and-adolescents-with-type-1-diabetes
#11
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
https://www.readbyqxmd.com/read/26436673/a-mixed-treatment-comparison-for-short-and-long-term-outcomes-of-bare-metal-and-drug-eluting-coronary-stents
#12
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
https://www.readbyqxmd.com/read/26334798/the-frequency-of-the-lct-13910c-t-polymorphism-associated-with-lactase-persistence-diverges-among-euro-descendant-groups-from-brazil
#13
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
https://www.readbyqxmd.com/read/26245282/molecular-typing-and-drug-sensitivity-testing-of-mycobacterium-tuberculosis-isolated-by-a-community-based-survey-in-ethiopia
#14
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...
2015: BMC Public Health
https://www.readbyqxmd.com/read/26025596/development-and-application-of-single-tube-multiplex-real-time-pcr-for-lineage-classification-of-mycobacterium-tuberculosis-based-on-large-sequence-polymorphism-in-northeast-thailand
#15
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
https://www.readbyqxmd.com/read/25894676/primary-cutaneous-and-subcutaneous-ewing-sarcoma
#16
Angela Di Giannatale, Anna Maria Frezza, Marie-Cécile Le Deley, Perrine Marec-Bérard, Charlotte Benson, Jean-Yves Blay, Binh Bui, Ian Judson, Odile Oberlin, Jeremy Whelan, Nathalie Gaspar
BACKGROUND: Primary cutaneous/subcutaneous Ewing sarcoma (scEWS) is extremely rare. We describe clinical features, treatment, and outcome of this Ewing localization. PROCEDURE: Retrospective study (1996-2012) on 56 patients. RESULTS: Most primary scEWS occurred in late adolescent/young adult females (F/M = 1.9; median age 21.5 years), with primary tumor in the extremity/trunk (48.5%/39%). Only 35/56 samples had Real-Time-Polymerase-Chain-Reaction/Fluorescent-In-Situ-Hybridization analysis, 32/35 had EWS-translocation...
September 2015: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/25859998/mycobacterium-tuberculosis-genotypic-drug-resistance-patterns-and-clustering-in-jayapura-papua-indonesia
#17
L Chaidir, S Sengstake, J de Beer, H Krismawati, F D Lestari, S Ayawaila, D van Soolingen, R Anthony, R van Crevel, B Alisjahbana
BACKGROUND: Little is known about drug-resistant tuberculosis (TB) and its transmission in Papua, which has one of the highest rates of TB in Indonesia. DESIGN: We examined genotypic drug resistance patterns using multiplex ligation-dependent probe amplification and the degree of molecular clustering using 24-locus mycobacterial interspersed repetitive units-variable number of tandem repeats (MIRU-VNTR) among 199 consecutive pulmonary TB patients in Jayapura, Papua...
April 2015: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/25247320/vaginal-self-sampling-is-a-cost-effective-way-to-increase-participation-in-a-cervical-cancer-screening-programme-a-randomised-trial
#18
RANDOMIZED CONTROLLED TRIAL
K Haguenoer, S Sengchanh, C Gaudy-Graffin, J Boyard, R Fontenay, H Marret, A Goudeau, N Pigneaux de Laroche, E Rusch, B Giraudeau
BACKGROUND: Cervical cancer screening coverage remains insufficient in most countries. Our objective was to assess whether in-home vaginal self-sampling with a dry swab for high-risk human papillomavirus (HR-HPV) testing is effective and cost-effective in increasing participation in cervical cancer screening. METHODS: In March 2012, 6000 unscreened women aged 30-65 years, living in a French region covered by a screening programme, who had not responded to an initial invitation to have a Pap smear were equally randomised to three groups: 'no intervention'; 'recall', women received a letter to have a Pap smear; and 'self-sampling', women received a self-sampling kit to return to a centralised virology laboratory for PCR-based HPV testing...
November 25, 2014: British Journal of Cancer
https://www.readbyqxmd.com/read/25197794/genomic-variability-of-mycobacterium-tuberculosis-strains-of-the-euro-american-lineage-based-on-large-sequence-deletions-and-15-locus-miru-vntr-polymorphism
#19
Laura Rindi, Chiara Medici, Nicola Bimbi, Andrea Buzzigoli, Nicoletta Lari, Carlo Garzelli
A sample of 260 Mycobacterium tuberculosis strains assigned to the Euro-American family was studied to identify phylogenetically informative genomic regions of difference (RD). Mutually exclusive deletions of regions RD115, RD122, RD174, RD182, RD183, RD193, RD219, RD726 and RD761 were found in 202 strains; the RD(Rio) deletion was detected exclusively among the RD174-deleted strains. Although certain deletions were found more frequently in certain spoligotype families (i.e., deletion RD115 in T and LAM, RD174 in LAM, RD182 in Haarlem, RD219 in T and RD726 in the "Cameroon" family), the RD-defined sublineages did not specifically match with spoligotype-defined families, thus arguing against the use of spoligotyping for establishing exact phylogenetic relationships between strains...
2014: PloS One
https://www.readbyqxmd.com/read/25074460/neurofibromatosis-type-1-molecular-diagnosis-what-can-ngs-do-for-you-when-you-have-a-large-gene-with-loss-of-function-mutations
#20
Eric Pasmant, Béatrice Parfait, Armelle Luscan, Philippe Goussard, Audrey Briand-Suleau, Ingrid Laurendeau, Corinne Fouveaut, Chrystel Leroy, Annelore Montadert, Pierre Wolkenstein, Michel Vidaud, Dominique Vidaud
Molecular diagnosis of neurofibromatosis type 1 (NF1) is challenging owing to the large size of the tumour suppressor gene NF1, and the lack of mutation hotspots. A somatic alteration of the wild-type NF1 allele is observed in NF1-associated tumours. Genetic heterogeneity in NF1 was confirmed in patients with SPRED1 mutations. Here, we present a targeted next-generation sequencing (NGS) of NF1 and SPRED1 using a multiplex PCR approach (230 amplicons of ∼150 bp) on a PGM sequencer. The chip capacity allowed mixing 48 bar-coded samples in a 4-day workflow...
May 2015: European Journal of Human Genetics: EJHG
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