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https://www.readbyqxmd.com/read/28931182/-primary-open-angle-glaucoma
#1
Esther M Hoffmann, Verena Prokosch-Willing
Glaucoma leads to blindness but there are diagnostic and therapeutic developments that aid ophthalmologists in the improved mangement of the disease compared to the past. Known risk factors such as age, myopia, dark pigmented skin, genetics, and elevated intraocular pressure play an important role for the individual patient's prognosis, and many yet unknown or not sufficiently investigated risk factors come along. The structured examination of the optic nerve head is crucial for the clincial diagnosis by the ophthalmologist...
September 20, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28931104/-molecular-diagnostics-of-alk-positive-lung-cancer
#2
József Tímár, Gábor Lotz, Erzsébet Rásó, Judit Moldvay
ALK translocation is the 3rd most frequent genetic aberration in lung adenocarcinoma, and several inhibitors are now clinically available in first and second line settings. Accordingly, molecular diagnostics of ALK-positive lung cancer is very important and can be done with the rational combination of several methods. All international recommendations suggest that, except for cytological samples, screening technology for ALK-positive tumors is immunohistochemistry using a validated test. It is highly recommended that in case of ALK protein positive samples gene translocation must be confirmed by fluorescent in situ hybridization (FISH)...
September 20, 2017: Magyar Onkologia
https://www.readbyqxmd.com/read/28931044/the-performance-of-a-new-local-false-discovery-rate-method-on-tests-of-association-between-coronary-artery-disease-cad-and-genome-wide-genetic-variants
#3
Shuyan Mei, Ali Karimnezhad, Marie Forest, David R Bickel, Celia M T Greenwood
The maximum entropy (ME) method is a recently-developed approach for estimating local false discovery rates (LFDR) that incorporates external information allowing assignment of a subset of tests to a category with a different prior probability of following the null hypothesis. Using this ME method, we have reanalyzed the findings from a recent large genome-wide association study of coronary artery disease (CAD), incorporating biologic annotations. Our revised LFDR estimates show many large reductions in LFDR, particularly among the genetic variants belonging to annotation categories that were known to be of particular interest for CAD...
2017: PloS One
https://www.readbyqxmd.com/read/28930996/assessment-of-the-anticoagulant-and-anti-inflammatory-properties-of-endothelial-cells-using-3d-cell-culture-and-non-anticoagulated-whole-blood
#4
Riccardo Sfriso, Anjan Bongoni, Yara Banz, Nikolai Klymiuk, Eckhard Wolf, Robert Rieben
In vivo, endothelial cells are crucial for the natural anticoagulation of circulating blood. Consequently, endothelial cell activation leads to blood coagulation. This phenomenon is observed in many clinical situations, like organ transplantation in the presence of pre-formed anti-donor antibodies, including xenotransplantation, as well as in ischemia/reperfusion injury. In order to reduce animal experimentation according to the 3R standards (reduction, replacement and refinement), in vitro models to study the effect of endothelial cell activation on blood coagulation would be highly desirable...
September 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28930984/high-fat-diet-feeding-and-high-throughput-triacylglyceride-assay-in-drosophila-melanogaster
#5
Soda Balla Diop, Ryan T Birse, Rolf Bodmer
Heart disease is the number one cause of human death worldwide. Numerous studies have shown strong connections between obesity and cardiac malfunction in humans, but more tools and research efforts are needed to better elucidate the mechanisms involved. For over a century, the genetically highly tractable model of Drosophila has been instrumental in the discovery of key genes and molecular pathways that proved to be highly conserved across species. Many biological processes and disease mechanisms are functionally conserved in the fly, such as development (e...
September 13, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28930807/breadth-of-genetic-testing-selected-by-patients-at-risk-of-hereditary-breast-and-ovarian-cancer
#6
J Brian Szender, Jasmine Kaur, Katherine Clayback, Mollie L Hutton, June Mikkelson, Kunle Odunsi, Cara Dresbold
OBJECTIVE: The aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued. METHODS: A single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories...
September 19, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28930612/genetic-addiction-risk-score-gars-%C3%A2-a-predictor-of-vulnerability-to-opioid-dependence
#7
Kenneth Blum, Amanda L C Chen, Panayotis K Thanos, Marcelo Febo, Zsolt Demetrovics, Kristina Dushaj, Abraham Kovoor, David Baron, David E Smith, Alphonso Kenison Roy Iii, Lyle Fried, Thomas J H Chen, Edwin Chapman, Edward Modestino, Bruce Steinberg, Rajendra D Badgaiyan
The interaction of neurotransmitters and genes that control the release of dopamine is the Brain Reward Cascade (BRC). Variations within the BRC, whether genetic or epigenetic, may predispose individuals to addictive behaviors and altered pain tolerance. This discussion authored by a group of concerned scientists and clinicians examines the Genetic Addiction Risk Score (GARS), the first test to accurately predict vulnerability to pain, addiction, and other compulsive behaviors, defined as Reward Deficiency Syndrome (RDS)...
January 1, 2018: Frontiers in Bioscience (Elite Edition)
https://www.readbyqxmd.com/read/28930591/lipoprotein-a-and-cardiovascular-disease-current-state-and-future-directions-for-an-enigmatic-lipoprotein
#8
Anum Saeed, Salim S Virani
Lipoprotein (a) (Lp (a)) is a complex polymorphic lipoprotein. Although structurally similar to low-density lipoprotein, Lp(a) has a glycoprotein, apolipoprotein(a) (apo(a)), attached to the apolipoprotein B-100 component. Several unique properties of Lp(a) can be attributed to the presence of apo(a). Several decades of research has improved our understanding of the structure, biochemistry, and pathophysiology of Lp(a) associated diseases. Genetic, epidemiological, and translational data indicate that elevated Lp(a) levels are likely in the causal pathway for atherosclerotic cardiovascular diseases as well as calcification of the aortic valves...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28930567/molecular-mechanisms-of-chlamydia-trachomatis-resistance-to-antimicrobial-drugs
#9
Tomislav Mestrovic, Suncanica Ljubin-Sternak
Chlamydia trachomatis (C. trachomatis) is a leading cause of bacterial sexually transmitted infections in developed and undeveloped countries, and therefore a global public health issue. In an era of increasing bacterial resistance to antibiotics, resistance has been an exceedingly rare phenomenon in C. trachomatis; however, clinical treatment failures attributed to multidrug-resistant C. trachomatis strains have been described on several occasions. Cell culture systems using McCoy cells and subsequent immunofluorescent staining are still the most common methodology used for antimicrobial susceptibility testing, but the presence of resistance markers should be appraised by further genetic analysis...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28930232/antimicrobial-antioxidant-and-cytotoxic-activities-of-ocimum-forskolei-and-teucrium-yemense-lamiaceae-essential-oils
#10
Nasser A Awadh Ali, Bhuwan K Chhetri, Noura S Dosoky, Khola Shari, Ahmed J A Al-Fahad, Ludger Wessjohann, William N Setzer
Background:Ocimum forskolei and Teucrium yemense (Lamiaceae) are used in traditional medicine in Yemen. Methods: The chemical composition, antimicrobial, antioxidant and cytotoxic activities of the essential oils isolated from the leaves of Ocimum forskolei Benth. (EOOF) and two different populations of Teucrium yemense Deflers., one collected from Dhamar province (EOTY-d), and another collected from Taiz (EOTY-t) were investigated. The antimicrobial activities of the oils were evaluated against several microorganisms with the disc diffusion test or the broth microdilution test...
April 1, 2017: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/28930183/substituting-sodium-hydrosulfite-with-sodium-metabisulfite-improves-long-term-stability-of-a-distributable-paper-based-test-kit-for-point-of-care-screening-for-sickle-cell-anemia
#11
Kian Torabian, Dalia Lezzar, Nathaniel Z Piety, Alex George, Sergey S Shevkoplyas
Sickle cell anemia (SCA) is a genetic blood disorder that is particularly lethal in early childhood. Universal newborn screening programs and subsequent early treatment are known to drastically reduce under-five SCA mortality. However, in resource-limited settings, cost and infrastructure constraints limit the effectiveness of laboratory-based SCA screening programs. To address this limitation our laboratory previously developed a low-cost, equipment-free, point-of-care, paper-based SCA test. Here, we improved the stability and performance of the test by replacing sodium hydrosulfite (HS), a key reducing agent in the hemoglobin solubility buffer which is not stable in aqueous solutions, with sodium metabisulfite (MS)...
September 20, 2017: Biosensors
https://www.readbyqxmd.com/read/28930163/zebrafish-in-translational-cancer-research-insight-into-leukemia-melanoma-glioma-and-endocrine-tumor-biology
#12
REVIEW
Aurora Irene Idilli, Francesca Precazzini, Maria Caterina Mione, Viviana Anelli
Over the past 15 years, zebrafish have emerged as a powerful tool for studying human cancers. Transgenic techniques have been employed to model different types of tumors, including leukemia, melanoma, glioblastoma and endocrine tumors. These models present histopathological and molecular conservation with their human cancer counterparts and have been fundamental for understanding mechanisms of tumor initiation and progression. Moreover, xenotransplantation of human cancer cells in embryos or adult zebrafish offers the advantage of studying the behavior of human cancer cells in a live organism...
September 20, 2017: Genes
https://www.readbyqxmd.com/read/28930109/abcg2-regulatory-single-nucleotide-polymorphisms-alter-in-vivo-enhancer-activity-and-expression
#13
Rachel J Eclov, Mee J Kim, Aparna Chhibber, Robin P Smith, Nadav Ahituv, Deanna L Kroetz
OBJECTIVES: The expression and activity of the breast cancer resistance protein (ABCG2) contributes toward the pharmacokinetics of endogenous and xenobiotic substrates. The effect of genetic variation on the activity of cis-regulatory elements and nuclear response elements in the ABCG2 locus and their contribution toward ABCG2 expression have not been investigated systematically. In this study, the effect of genetic variation on the in-vitro and in-vivo enhancer activity of six previously identified liver enhancers in the ABCG2 locus was examined...
September 18, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28930067/prenatal-exposure-effects-on-early-adolescent-substance-use-preliminary-evidence-from-a-genetically-informed-bayesian-approach
#14
L Cinnamon Bidwell, Kristine Marceau, Leslie A Brick, Hollis C Karoly, Alexandre A Todorov, Rohan H Palmer, Andrew C Heath, Valerie S Knopik
OBJECTIVE: Given the controversy surrounding the question of whether there are direct or causal effects of exposure to maternal smoking during pregnancy (SDP) on offspring outcomes such as substance use during the adolescent years, we sought to test, on a preliminary basis, within- and between-family associations of SDP and initiation of substance use early in adolescence (by age 15 years) using a discordant sibling design. METHOD: We used a sibling-comparison approach in a sample of 173 families drawn from the state of Missouri, wherein mothers were discordant for smoking behaviors between two different pregnancies, to test for associations of SDP and initiation of substance use in a younger adolescent cohort...
September 2017: Journal of Studies on Alcohol and Drugs
https://www.readbyqxmd.com/read/28930051/addiction-and-the-role-of-circadian-genes
#15
Laura A Forde, Gursharan Kalsi
OBJECTIVE: In mammals, intimate interactions exist between the circadian system and other molecular systems, and mounting evidence is suggesting that these relationships may affect substance use disorders. Research in preclinical models supports the role of circadian genes as risk factors for addiction. Here, we explore the evidence and review human genetic studies testing the association between specific circadian genes and substance use disorders. METHOD: A literature search was conducted in PubMed for studies testing variants in eight circadian genes known to be central to the functioning of the master clock in the brain...
September 2017: Journal of Studies on Alcohol and Drugs
https://www.readbyqxmd.com/read/28930031/spread-of-chikungunya-virus-east-central-south-african-genotype-in-northeast-brazil
#16
Antonio Charlys da Costa, Julien Thézé, Shirley Cavalcante Vasconcelos Komninakis, Rodrigo Lopes Sanz-Duro, Marta Rejane Lemos Felinto, Lúcia Cristina Corrêa Moura, Ivoneide Moreira de Oliveira Barroso, Lucineide Eliziario Correia Santos, Mardjane Alves de Lemos Nunes, Adriana Avila Moura, José Lourenço, Xutao Deng, Eric L Delwart, Maria Raquel Dos Anjos Silva Guimarães, Oliver G Pybus, Ester C Sabino, Nuno R Faria
We investigated an outbreak of exanthematous illness in Maceió by using molecular surveillance; 76% of samples tested positive for chikungunya virus. Genetic analysis of 23 newly generated genomes identified the East/Central/South African genotype, suggesting that this lineage has persisted since mid-2014 in Brazil and may spread in the Americas and beyond.
October 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28929983/genetic-perspective-of-milk-yield-persistency-in-the-first-three-lactations-of-iranian-buffaloes-bubalus-bubalis
#17
Navid Ghavi Hossein-Zadeh, Mohammad Ali Nazari, Abdol Ahad Shadparvar
The objectives of this study were to estimate the genetic parameters and genetic trends for different measures of persistency (PM) for milk yield in Iranian buffaloes using a random regression test day model. Test day records of the first three lactations of buffaloes within 715 herds comprising 43 014, 38 941 and 33 937 records, respectively, were obtained from the Animal Breeding Center of Iran during 1992 to 2012. Legendre polynomial functions were chosen to fit the lactation curves in the framework of a random regression test day model for estimating (co)variance components...
September 20, 2017: Journal of Dairy Research
https://www.readbyqxmd.com/read/28929960/-antimicrobial-susceptibilities-and-molecular-characterization-of-toxin-positive-clostridium-difficile-isolates-the-first-report-on-the-presence-of-hypervirulent-strains-from-turkey
#18
Emrah Salman, Belkıs Levent, Zeynep Ceren Karahan
Clostridium difficile infection is one of the most important hospital-acquired infections. Infections caused by hypervirulent C.difficile strains which produce toxins at high levels, have higher morbidity and mortality rates, more complications and relapses. They are characterized by higher sporulation ratios and resistance rates for fluoroquinolones. In order to prevent serious morbidities, mortalities and remarkable increase in health costs, highly pathogenic C.difficile strains must be identified before causing severe outbreaks...
July 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/28929945/innovative-pcr-without-dna-extraction-for-african-sickle-cell-disease-diagnosis
#19
L Detemmerman, S Olivier, V Bours, F Boemer
OBJECTIVES: Hemoglobin (Hb) disorders consist of thalassemia and Hb structural variants, of which the major forms are associated with severe anemia and/or vascular occlusion. Current diagnostic techniques are highly accurate and mostly based on isoelectric focusing, high-performance liquid chromatography or mass spectrometry, which often require advanced laboratory equipment. In sub-Saharan Africa, the Hb disorders are mainly associated to the pathological variants hemoglobin S (HbS) and HbC...
September 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28929906/the-important-role-of-primary-care-providers-in-the-detection-of-alpha-1-antitrypsin-deficiency
#20
Jorge E Lascano, Michael A Campos
OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder that can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all COPD cases. METHODS: PubMed was searched for relevant articles using AAT/AATD-related terms. RESULTS: Unfortunately, <10% of symptomatic individuals have been properly diagnosed primarily due to the underdiagnosis of COPD and the lack of awareness of AATD as a possible underlying cause...
September 20, 2017: Postgraduate Medicine
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