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2. Evaluation of an automated von Willebrand factor GPIbM activity assay compared to three alternative von Willebrand factor activity assays.

Author

Friedman, Kenneth D., primary, Böhm-Weigert, Martina, additional, DeSimone, Nicole, additional, Dietzen, Dennis J., additional, Eby, Charles, additional, Flickinger, Cynthia, additional, Hoyer, Walter, additional, Kahl, Mareike, additional, Kottke-Marchant, Kandice, additional, Ortel, Thomas L., additional, Patzke, Jürgen, additional, Pipe, Steven W., additional, Stuart, Morgan, additional, Timur, Ayse Anil, additional, and Sarode, Ravindra, additional

Published
2024
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4. Loci influencing blood pressure identified using a cardiovascular gene-centric array

Author

Ganesh, Santhi K, Tragante, Vinicius, Guo, Wei, Guo, Yiran, Lanktree, Matthew B, Smith, Erin N, Johnson, Toby, Castillo, Berta Almoguera, Barnard, John, Baumert, Jens, Chang, Yen-Pei Christy, Elbers, Clara C, Farrall, Martin, Fischer, Mary E, Franceschini, Nora, Gaunt, Tom R, Gho, Johannes MIH, Gieger, Christian, Gong, Yan, Isaacs, Aaron, Kleber, Marcus E, Leach, Irene Mateo, McDonough, Caitrin W, Meijs, Matthijs FL, Mellander, Olle, Molony, Cliona M, Nolte, Ilja M, Padmanabhan, Sandosh, Price, Tom S, Rajagopalan, Ramakrishnan, Shaffer, Jonathan, Shah, Sonia, Shen, Haiqing, Soranzo, Nicole, van der Most, Peter J, Van Iperen, Erik PA, Van Setten, Jessic A, Vonk, Judith M, Zhang, Li, Beitelshees, Amber L, Berenson, Gerald S, Bhatt, Deepak L, Boer, Jolanda MA, Boerwinkle, Eric, Burkley, Ben, Burt, Amber, Chakravarti, Aravinda, Chen, Wei, Cooper-DeHoff, Rhonda M, Curtis, Sean P, Dreisbach, Albert, Duggan, David, Ehret, Georg B, Fabsitz, Richard R, Fornage, Myriam, Fox, Ervin, Furlong, Clement E, Gansevoort, Ron T, Hofker, Marten H, Hovingh, G Kees, Kirkland, Susan A, Kottke-Marchant, Kandice, Kutlar, Abdullah, LaCroix, Andrea Z, Langaee, Taimour Y, Li, Yun R, Lin, Honghuang, Liu, Kiang, Maiwald, Steffi, Malik, Rainer, Murugesan, Gurunathan, Newton-Cheh, Christopher, O'Connell, Jeffery R, Onland-Moret, N Charlotte, Ouwehand, Willem H, Palmas, Walter, Penninx, Brenda W, Pepine, Carl J, Pettinger, Mary, Polak, Joseph F, Ramachandran, Vasan S, Ranchalis, Jane, Redline, Susan, Ridker, Paul M, Rose, Lynda M, Scharnag, Hubert, Schork, Nicholas J, Shimbo, Daichi, Shuldiner, Alan R, Srinivasan, Sathanur R, Stolk, Ronald P, Taylor, Herman A, Thorand, Barbara, Trip, Mieke D, van Duijn, Cornelia M, Verschuren, W Monique, Wijmenga, Cisca, Winkelmann, Bernhard R, Wyatt, Sharon, and Young, J Hunter

Subjects
Hypertension, Heart Disease, Human Genome, Genetics, Clinical Research, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Blood Pressure, Cardiovascular Diseases, Chromosome Mapping, Cohort Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, White People, CARDIOGRAM, METASTROKE, LifeLines Cohort Study, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Blood pressure (BP) is a heritable determinant of risk for cardiovascular disease (CVD). To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP) and pulse pressure (PP), we genotyped ∼50 000 single-nucleotide polymorphisms (SNPs) that capture variation in ∼2100 candidate genes for cardiovascular phenotypes in 61 619 individuals of European ancestry from cohort studies in the USA and Europe. We identified novel associations between rs347591 and SBP (chromosome 3p25.3, in an intron of HRH1) and between rs2169137 and DBP (chromosome1q32.1 in an intron of MDM4) and between rs2014408 and SBP (chromosome 11p15 in an intron of SOX6), previously reported to be associated with MAP. We also confirmed 10 previously known loci associated with SBP, DBP, MAP or PP (ADRB1, ATP2B1, SH2B3/ATXN2, CSK, CYP17A1, FURIN, HFE, LSP1, MTHFR, SOX6) at array-wide significance (P < 2.4 × 10(-6)). We then replicated these associations in an independent set of 65 886 individuals of European ancestry. The findings from expression QTL (eQTL) analysis showed associations of SNPs in the MDM4 region with MDM4 expression. We did not find any evidence of association of the two novel SNPs in MDM4 and HRH1 with sequelae of high BP including coronary artery disease (CAD), left ventricular hypertrophy (LVH) or stroke. In summary, we identified two novel loci associated with BP and confirmed multiple previously reported associations. Our findings extend our understanding of genes involved in BP regulation, some of which may eventually provide new targets for therapeutic intervention.

Published
2013

5. Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci

Author

Asselbergs, Folkert W, Guo, Yiran, van Iperen, Erik PA, Sivapalaratnam, Suthesh, Tragante, Vinicius, Lanktree, Matthew B, Lange, Leslie A, Almoguera, Berta, Appelman, Yolande E, Barnard, John, Baumert, Jens, Beitelshees, Amber L, Bhangale, Tushar R, Chen, Yii-Der Ida, Gaunt, Tom R, Gong, Yan, Hopewell, Jemma C, Johnson, Toby, Kleber, Marcus E, Langaee, Taimour Y, Li, Mingyao, Li, Yun R, Liu, Kiang, McDonough, Caitrin W, Meijs, Matthijs FL, Middelberg, Rita PS, Musunuru, Kiran, Nelson, Christopher P, O’Connell, Jeffery R, Padmanabhan, Sandosh, Pankow, James S, Pankratz, Nathan, Rafelt, Suzanne, Rajagopalan, Ramakrishnan, Romaine, Simon PR, Schork, Nicholas J, Shaffer, Jonathan, Shen, Haiqing, Smith, Erin N, Tischfield, Sam E, van der Most, Peter J, van Vliet-Ostaptchouk, Jana V, Verweij, Niek, Volcik, Kelly A, Zhang, Li, Bailey, Kent R, Bailey, Kristian M, Bauer, Florianne, Boer, Jolanda MA, Braund, Peter S, Burt, Amber, Burton, Paul R, Buxbaum, Sarah G, Chen, Wei, Cooper-DeHoff, Rhonda M, Cupples, L Adrienne, deJong, Jonas S, Delles, Christian, Duggan, David, Fornage, Myriam, Furlong, Clement E, Glazer, Nicole, Gums, John G, Hastie, Claire, Holmes, Michael V, Illig, Thomas, Kirkland, Susan A, Kivimaki, Mika, Klein, Ronald, Klein, Barbara E, Kooperberg, Charles, Kottke-Marchant, Kandice, Kumari, Meena, LaCroix, Andrea Z, Mallela, Laya, Murugesan, Gurunathan, Ordovas, Jose, Ouwehand, Willem H, Post, Wendy S, Saxena, Richa, Scharnagl, Hubert, Schreiner, Pamela J, Shah, Tina, Shields, Denis C, Shimbo, Daichi, Srinivasan, Sathanur R, Stolk, Ronald P, Swerdlow, Daniel I, Taylor, Herman A, Topol, Eric J, Toskala, Elina, van Pelt, Joost L, van Setten, Jessica, Yusuf, Salim, Whittaker, John C, Zwinderman, AH, Study, LifeLines Cohort, Anand, Sonia S, Balmforth, Anthony J, and Berenson, Gerald S

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Human Genome, Cardiovascular, Atherosclerosis, Aetiology, 2.1 Biological and endogenous factors, Cholesterol, HDL, Cholesterol, LDL, Female, Genome-Wide Association Study, Genotype, Humans, Lipids, Male, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Sex Factors, Triglycerides, White People, LifeLines Cohort Study, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Genome-wide association studies (GWASs) have identified many SNPs underlying variations in plasma-lipid levels. We explore whether additional loci associated with plasma-lipid phenotypes, such as high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TGs), can be identified by a dense gene-centric approach. Our meta-analysis of 32 studies in 66,240 individuals of European ancestry was based on the custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) covering ∼2,000 candidate genes. SNP-lipid associations were replicated either in a cohort comprising an additional 24,736 samples or within the Global Lipid Genetic Consortium. We identified four, six, ten, and four unreported SNPs in established lipid genes for HDL-C, LDL-C, TC, and TGs, respectively. We also identified several lipid-related SNPs in previously unreported genes: DGAT2, HCAR2, GPIHBP1, PPARG, and FTO for HDL-C; SOCS3, APOH, SPTY2D1, BRCA2, and VLDLR for LDL-C; SOCS3, UGT1A1, BRCA2, UBE3B, FCGR2A, CHUK, and INSIG2 for TC; and SERPINF2, C4B, GCK, GATA4, INSR, and LPAL2 for TGs. The proportion of explained phenotypic variance in the subset of studies providing individual-level data was 9.9% for HDL-C, 9.5% for LDL-C, 10.3% for TC, and 8.0% for TGs. This large meta-analysis of lipid phenotypes with the use of a dense gene-centric approach identified multiple SNPs not previously described in established lipid genes and several previously unknown loci. The explained phenotypic variance from this approach was comparable to that from a meta-analysis of GWAS data, suggesting that a focused genotyping approach can further increase the understanding of heritability of plasma lipids.

Published
2012

7. Establishing a Clinical Laboratory in a Tertiary/Quaternary Care Greenfield Hospital in the Middle East: Recounting the Cleveland Clinic Abu Dhabi Experience

Author

Mirza, Imran, AbdelWareth, Laila O., Liaqat, Muneezeh, Anderson, Peter, Palmer, Bryson, Turner, Andrew, Pallinalakam, Fasila, Ali, Helal Bin, Tantia, Eufe, Lari, Sara, Tiexiera, Therese, Suchy, Paul, Bosler, David, and Kottke-Marchant, Kandice

Subjects
Abu Dhabi, United Arab Emirates (City) -- Rites, ceremonies and celebrations, Biomedical laboratories -- Technology application, Technology application, Health, Cleveland Clinic -- Rites, ceremonies and celebrations
Abstract

Context.--This review chronicles the establishment of a clinical laboratory in Cleveland Clinic Abu Dhabi, a greenfield tertiary/quaternary care hospital in the United Arab Emirates. It discusses the challenges faced, solutions sought, and lessons learned and shares insights and pitfalls that may be encountered in such an undertaking. Objectives.--To share our experience in building a clinical laboratory in a start-up, multispecialty hospital and how we provided support and managed people, processes, and technology for building and making operational the Cleveland Clinic Abu Dhabi. Data Sources.--The Medline (PubMed, National Center for Biotechnology Information, Bethesda, Maryland) database was used to review this topic as well as other journals, books, and Google (Mountain View, California) search engine. Conclusions.--To deliver on the promise of quality healthcare in a culturally appropriate setting close to home, Cleveland Clinic Abu Dhabi proved to be an unprecedented and ambitious project, jointly carried out by Mubadala Investment Corporation and the Cleveland Clinic Foundation. Cognizant of the scale of this task, hospital leadership engaged closely with staff and stakeholders through motivational techniques and effective communication. Excellent project planning and execution of complex tasks were required for initiation of services. Establishing the clinical laboratory served as an instructive model in fostering multidisciplinary teamwork by highlighting ways to manage operational roadblocks and opportunities in the planning, commissioning, and activation phases. Throughout the activation process, all efforts were directed to create a patient-safety culture within an intentional-learning organization. doi: 10.5858/arpa.2017-0518-RA, 'I had many dreams. I dreamt of our land keeping pace with the growth of the modern world.' --Sheikh Zayed bin Sultan Al Nahyan (1) Few organizations in the world [...]

Published
2018
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10. Contributors

Author

Anastasi, John, primary, Arber, Daniel A., additional, Chen, Dong, additional, Chikwava, Kudakwashe, additional, Choi, John Kim, additional, Cook, James R., additional, Fedoriw, Yuri, additional, Fend, Falko, additional, Ferry, Judith A., additional, Finn, William G., additional, Gao, Juehua, additional, George, Tracy I., additional, Hasserjian, Robert Paul, additional, He, Rong, additional, Hoyer, James D., additional, Hsi, Eric D., additional, King, Rebecca L., additional, Kottke-Marchant, Kandice, additional, Kurtin, Paul J., additional, Kussick, Steven J., additional, Lin, Pei, additional, Macon, William R., additional, Monaghan, Sara A., additional, Nakashima, Megan O., additional, Nguyen, Phuong L., additional, Ohgami, Robert S., additional, Oliveira, Jennifer L., additional, O'Malley, Dennis P., additional, Picarsic, Jennifer Lee, additional, Quintanilla-Martinez, Leticia, additional, Rogers, Heesun J., additional, Said, Jonathan W., additional, Slack, Graham W., additional, Smith, Lauren, additional, Thakral, Beenu, additional, Viswanatha, David S., additional, Wang, Sa A., additional, and Ziai, James M., additional

Published
2018
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29. Effect of fondaparinux on coagulation assays: results of College of American Pathologists proficiency testing

Author

Smogorzewska, Agata, Brandt, John T., Chandler, Wayne L., Cunningham, Mark T., Hayes, Timothy E., Olson, John D., Kottke-Marchant, Kandice, and Van Cott, Elizabeth M.

Subjects
United States. Food and Drug Administration -- Standards, College of American Pathologists -- Research, Heparin -- Usage, Heparin -- Research, Thromboembolism -- Care and treatment, Thromboembolism -- Research
Published
2006

32. Contributors

Author

Anastasi, John, primary, Arber, Daniel A., additional, Chen, Dong, additional, Chikwava, Kudakwashe, additional, Cioc, Adina M., additional, Cook, James R., additional, Ferry, Judith A., additional, Finn, William G., additional, Gascoyne, Randy D., additional, Heerema-McKenney, Amy E., additional, Hoyer, James D., additional, Hsi, Eric D., additional, Jaffe, Ronald, additional, Kottke-Marchant, Kandice, additional, Kroft, Steven H., additional, Kurtin, Paul J., additional, Kussick, Steven J., additional, Li, Chin-Yang, additional, Lin, Pei, additional, Macon, William R., additional, Merchant, Shakil H., additional, Monaghan, Sara A., additional, Nguyen, Phuong L., additional, O’Malley, Dennis P., additional, Ohgami, Robert S., additional, Oliveira, Jennifer L., additional, Onciu, Mihaela, additional, Said, Jonathan W., additional, Schnitzer, Bertram, additional, Slack, Graham W., additional, Viswanatha, David S., additional, and Ziai, James M., additional

Published
2012
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43. CONTRIBUTORS

Author

Aberg, Judith A., primary, Abernethy, Amy P., additional, Abrahm, Janet L., additional, Adolph, Michael, additional, Aherne, Michael, additional, Allsopp, K., additional, Altisent, Rogelio, additional, Alvarez, Carmen Fernandez, additional, Amigo, Pablo, additional, Anderson, Wendy G., additional, Ang, Sik Kim, additional, Antonelli, Tiziana, additional, Armstrong, John, additional, Armstrong, Wendy S., additional, Arnold, Robert M., additional, Arranz, Pilar, additional, Augustyns, Koen, additional, Sáenz-Diez, Isabel Barreiro-Meiro, additional, Barreto, Pilar, additional, Barton, Debra, additional, Bates, Ursula, additional, Fernandez-Creuchet Santos, Maria B., additional, Bátiz, Jacinto, additional, Benedetti, Costantino, additional, Bennani-Baiti, Nabila, additional, Bennett, Michael I., additional, Berger, Kevin, additional, Bhatnagar, Mamta, additional, Bicanovsky, Lesley, additional, Blue, Lynda, additional, Bobb, Barton, additional, Body, Jean-Jacques, additional, Borasio, Gian Domenico, additional, Borreani, Claudia, additional, Bozzetti, Federico, additional, Bozzetti, Valentina, additional, Braybrooke, Jason, additional, Breitbart, William, additional, Bresnihan, Barry, additional, Broeckaert, Bert, additional, Bruera, Eduardo, additional, Brune, Kay, additional, Buckhout, Bradley, additional, Butow, Phyllis N., additional, Byock, Ira, additional, Byrne, Anthony, additional, Byrne, Clare, additional, Cable-Williams, Beryl E., additional, Callin, Sarah E., additional, Casarett, David, additional, Casper, David, additional, Cassell, Eric J., additional, Cassileth, Barrie, additional, Castagno, Emanuele, additional, Centeno, Carlos, additional, Ceranski, Walter, additional, Ceulemans, Lucas, additional, Chadha, Meghna, additional, Chamberlain, Bruce H., additional, Chang, Eric L., additional, Chang, Victor T., additional, Chochinov, Harvey Max, additional, Chow, Edward, additional, Christ, Grace, additional, Clark, Katherine, additional, Clarke, Stephen, additional, Clayton, Josephine M., additional, Cleary, James F., additional, Clein, Lawrence J., additional, Clemens, Katri Elina, additional, Clemens, Libby, additional, Colebunders, Robert, additional, Connor, Steven R., additional, Conraads, Viviane, additional, Cooney, Colm, additional, Costantini, Massimo, additional, Couceiro, Azucena, additional, Covington, Holly, additional, Cowan, John D., additional, Coyne, Patrick, additional, Crawford, Garnet, additional, Creedon, Brian, additional, Cronin, Hilary, additional, Cullen, Garret, additional, Cummings, Jennifer E., additional, Currow, David C., additional, Daeninck, Paul J., additional, Dalinis, Pamela, additional, Das, Prajnan, additional, Davis, Mellar P., additional, Davison, Sara N., additional, Deamant, Catherine, additional, de Lima, Liliana, additional, Delany, Conor P., additional, Demeulenaere, Peter, additional, Dergham, Lena, additional, Derycke, Noël, additional, Dhupar, Rajeev, additional, Dicato, Mario, additional, Dickerson, Edwin D., additional, Dickman, Andrew, additional, Dietrich, Maria, additional, Dixon, Pamela, additional, Dodd, Philip C., additional, D'Olimpio, James T., additional, Dombernowsky, Per, additional, Dooley, Michael, additional, Dudgeon, Deborah, additional, Dunn, Geoffrey P., additional, Dunwoodie, David, additional, Eades, Jane, additional, El Osta, Badi, additional, Elbert-Avila, Katja, additional, Ellershaw, John, additional, Estfan, Bassam, additional, Exton, Louise, additional, Fairchild, Alysa, additional, Farrelly, Matthew, additional, Fassbender, Konrad, additional, Faulhaber, Jason, additional, Fearon, Kenneth C.H., additional, Fenelon, Lynda E., additional, Ferson, Peter F., additional, Feyer, Petra, additional, Filbet, Marilene, additional, Firth, Pam, additional, FitzGerald, Susan F., additional, Flood, Hugh D., additional, Floriani, Francesca Crippa, additional, Ford, Paul J., additional, Fortner, Barry, additional, Foth, Darlene, additional, Fowler, Bridget, additional, Frame, Karen, additional, Fraser, Thomas G., additional, Frost, Fred, additional, Fulham, Michael J., additional, Gagnon, Pierre R., additional, Gallagher, Lisa M., additional, Gambles, Maureen, additional, Giri, Subhasis K., additional, Glare, Paul, additional, Goh, Cynthia R., additional, Gómez-Batiste, Xavier, additional, Gramlich, Leah, additional, Grassi, Luigi, additional, Grauer, Phyllis A., additional, Green, Claire, additional, Griffiths, Gareth, additional, Griffo, Yvona, additional, Groninger, Hunter, additional, Gruenewald, David A., additional, Gubili, Jyothirmai, additional, Gutgsell, Terence L., additional, Gwyther, Elizabeth, additional, Haber, Paul S., additional, Haemers, Achiel, additional, Haley, Mindi C., additional, Hanna, Mazen A., additional, Hardy, Janet R., additional, Haselkorn, Jodie, additional, Hauser, Katherine, additional, Heaven, Cathy, additional, Herman, Michael, additional, Herrstedt, Jørn, additional, Higgins, Stephen, additional, Higginson, Irene J., additional, Hilden, Joanne M., additional, Hillenbrand, Kathryn L., additional, Hinz, Burkhard, additional, Homsi, Jade, additional, Hood, Kerry, additional, Hou, Juliet Y., additional, Hubens, Guy, additional, Hudson, Peter, additional, Hughes, John G., additional, Hunt, John, additional, Hurwitz, Craig A., additional, Ibinson, James, additional, Janjan, Nora, additional, Jaspers, Birgit, additional, Jehser, Thomas, additional, Joffe, A. Mark, additional, John, Laurence, additional, Johnstone, Jennie, additional, Jones, J. Stephen, additional, Kane, Javier R., additional, Karafa, Matthew T., additional, Keaveny, Andrew P., additional, Keefe, Dorothy M.K., additional, Kelso, Catherine McVearry, additional, Kenny, Rose Anne, additional, Kern, Martina, additional, Khoshknabi, Dilara Seyidova, additional, Kirkova, Jordanka, additional, Kirsh, Kenneth L., additional, Kissane, David W., additional, Klaschik, Eberhard, additional, Komurcu, Seref, additional, Kottke-Marchant, Kandice, additional, Kozell, Kathryn M., additional, Krishnan, Sunil, additional, Kuban, Deborah, additional, Laber, Damian A., additional, Lagman, Ruth L., additional, Lalla, Rajesh V., additional, Lane, Deforia, additional, Larkin, Philip J., additional, Lasheen, Wael, additional, Lawlor, Peter, additional, LeGrand, Susan B., additional, Lens, Vincent, additional, Leskuski, Dona, additional, Levack, Pamela, additional, Levetown, Marcia, additional, Lewandowski, Jeanne G., additional, Lewis, William R., additional, Librach, S. Lawrence, additional, Lichtenthal, Wendy G., additional, Lickiss, J. Norelle, additional, Lijoi, Stefano, additional, Lin, Edward, additional, Lipman, Arthur G., additional, Livrozet, Jean-Michel, additional, Lloyd-Williams, Mari, additional, Logan, Richard M., additional, Martín, Francisco López-Lara, additional, Loprinzi, Charles L., additional, Loughnane, John, additional, Lucey, Michael, additional, Lyckholm, Laurie, additional, Macmillan, Carol, additional, Mair, Frances, additional, Makoni, Stephen N., additional, Malik, Bushra, additional, Malone, Kevin, additional, Maltoni, Marco, additional, Mani, Aruna, additional, Marchand, Lucille R., additional, Mareiniss, Darren P., additional, Marsland, Anna L., additional, Marston, Joan, additional, Martinez, Julia Romero, additional, Martínez de Ubago, Isabel, additional, Martins, Lina M., additional, Maughan, Timothy S., additional, Mayland, Catriona, additional, McClement, Susan E., additional, McCutcheon, Ian, additional, McGee, Michael F., additional, McGill, Neil, additional, McNamara, Stephen, additional, McPherson, Mary Lynn, additional, McQuay, Henry, additional, McQuillan, Regina, additional, McQuown, Robert E., additional, Meiring, Michelle, additional, Mercadante, Sebastiano, additional, Meyer, Elaine C., additional, Miller, Randy D., additional, Millerick, Yvonne, additional, Miniero, Roberto, additional, Mohamed, Armin, additional, Mooka, Busi, additional, Morrison, Helen M., additional, Muir, J. Cameron, additional, Mulcahy, Fiona, additional, Mulcahy, Hugh E., additional, Muller, Monica, additional, Müller-Busch, H. Christof, additional, Murray, Scott A., additional, Nauck, Friedemann, additional, Neasham, Katherine, additional, Nkosi, Busisiwe, additional, Noble, Simon, additional, Noguera, Antonio, additional, Nowak, Anna K., additional, Nuñez-Olarte, Juan, additional, Obbens, Eugenie A.M.T., additional, O'Brien, Tony, additional, Olden, Megan, additional, O'Leary, Norma, additional, Oliver, David, additional, Oliviere, David, additional, Omlin, Aurelius G., additional, Osenga, Kaci, additional, O'Shea, Diarmuid, additional, Ostgathe, Christophe, additional, Ottery, Faith D., additional, Ouellette, Michel, additional, Overton, Edgar Turner, additional, Palacios, Moné, additional, Palmer, Robert, additional, Palmer, Teresa, additional, Paradis, Carmen, additional, Parala, Armida G., additional, Pascual-López, Antonio, additional, Passik, Steven D., additional, Pawlik, Timothy M., additional, Payne, Malcolm, additional, Payne, Sheila, additional, Paz, Silvia, additional, Pereira, José, additional, Perkins, George, additional, Peschardt, Karin, additional, Pessin, Hayley, additional, Peterson, Douglas E., additional, Podichetty, Vinod K., additional, Pollens, Robin, additional, Pontifex, Eliza, additional, Poole, Susan, additional, Porta-Sales, Josep, additional, Poston, Graeme, additional, Powazki, Ruth D., additional, Powderly, William, additional, Pozuelo, Leopoldo, additional, Prommer, Eric, additional, Puchalski, Christina M., additional, Radbruch, Lukas, additional, Raes, David F.J., additional, Read, Jane, additional, Reddy, Anantha, additional, Reger, Steven I., additional, Rehm, Susan J., additional, Reich, Stephen G., additional, Rocafort, Javier, additional, Rosenblatt, Adam, additional, Rushton, Cynda Hylton, additional, Russell, K. Mitchell, additional, Ryan, Karen, additional, Rybicki, Lisa A., additional, Sacerdote, Paola, additional, Sahgal, Vinod, additional, Ann Sammon, Mary, additional, Sandrock, Dirk, additional, Sands, Mark, additional, Schilling, Denise L., additional, Schulz, Valerie Nocent, additional, Schum, Lisa N., additional, Selwyn, Peter, additional, Shadd, Joshua, additional, Shapiro, Charles L., additional, Sharif, Aktham, additional, Sharp, Helen M., additional, Shepard, Kirk V., additional, Sherwood, J. Timothy, additional, Shrestha, Nabin K., additional, Skipworth, Richard J.E., additional, Smith, Howard S., additional, Solomon, Mildred Z., additional, de Prado Otero, Diego Soto, additional, Spencer, Denise Wells, additional, Spice, Ron, additional, Spiegel, David, additional, Srivastava, Manish, additional, Staffurth, John N., additional, Starling, Randall, additional, Stewart, Grant D., additional, Stjernswärd, Jan, additional, Strasser, Florian, additional, Strauss, Edna, additional, Strohscheer, Imke, additional, Summey, Brett Taylor, additional, Sutton, Graham, additional, Sykes, Nigel P., additional, Taege, Alan J., additional, Tamburini, Marcello, additional, Tarumi, Yoko, additional, Tassinari, Davide, additional, Tattersall, Martin H.N., additional, Theil, Karl S., additional, Thomas, Keri, additional, Tookman, Adrian, additional, Torrubia, María P., additional, Towers, Anna, additional, Tsoi, Daphne, additional, Tucker, Rodney O., additional, Tulsky, James A., additional, Tunick, Rachel A., additional, Turner, Claire, additional, Twaddle, Martha L., additional, Twomey, Marie, additional, Ullrich, Christina, additional, Urch, Catherine E., additional, Vachon, Mary L.S., additional, Van den Eynden, Bart, additional, Vigano, Antonio, additional, Vlieghe, Erika, additional, Volandes, Angelo E., additional, Voltz, Raymond, additional, Walker, Paul W., additional, Watanabe, Sharon, additional, Weber, Michael A., additional, Weinstein, Elizabeth, additional, Weinstein, Sharon M., additional, Weise, Kathryn L., additional, Weisenfluh, Sherri, additional, Welsh, John, additional, White, Clare, additional, Wilson, Donna M., additional, Wolfe, Joanne, additional, Yavuzsen, Tugba, additional, Yee, Albert J.M., additional, Yerian, Lisa M., additional, and Zucchetti, Elena, additional

Published
2009
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46. Genetic polymorphisms associated with venous and arterial thrombosis; an overview. (Advances in the Science of Pathology)

Author

Kottke-Marchant, Kandice

Subjects
Thrombosis -- Genetic aspects, Genetic disorders -- Research
Abstract

* Objective.--To provide an overview of genetic polymorphisms associated with thrombotic cardiovascular disease. Data Sources.--A literature search using the National Library of Medicine database. Study Selection.--The literature on genetic polymorphisms associated with venous and arterial thrombosis was reviewed. Data Extraction.--Based on the literature review, the clinical significance of polymorphisms in various coagulation proteins was assessed and a summary was developed. Conclusions.--Thrombosis is a multifactorial disorder, with both congenital and acquired risk factors. It is now clear that there are many genetic abnormalities that impart an increased risk for thrombophilia, and the presence of more than 1 abnormality results in a further increased risk of thrombosis. In hemostasis, there is a balance between procoagulant factors and natural anticoagulant proteins. The first genetic thrombotic disorders described were deficiencies of the natural anticoagulants, such as antithrombin, protein C, and protein S, but these abnormalities are rare and are caused by many different mutations. More recently, single polymorphisms that are relatively common in the general population have been described in procoagulant factors, such as factor V and prothrombin, which impart an increased risk for venous thrombosis. As more scrutiny is placed on the hemostatic system, further polymorphisms have come to light. The current challenge is to elucidate the relationship between these new polymorphisms and either venous or arterial thrombotic cardiovascular disease., Thrombosis, involving either the venous or arterial systems, is one of the major causes of morbidity and mortality. Thrombosis, either alone or together with atherosclerotic vascular disease, is an underlying [...]

Published
2002

47. The laboratory diagnosis of platelet disorders: an algorithmic approach. (CAP Laboratory Improvement Programs)

Author

Kottke-Marchant, Kandice and Corcoran, George

Subjects
Blood platelet disorders -- Diagnosis, Diagnosis, Laboratory -- Methods
Abstract

* Objective.--To provide both a detailed description of the laboratory tests available in the diagnosis of platelet disorders and a testing algorithm, based on platelet count, that can be used to direct the evaluation of platelet disorders. Data Sources.--A literature search was conducted using the National Library of Medicine database. Study Selection.--The literature on laboratory testing of platelet function was reviewed. Data Extraction and Data Synthesis.--Based on the literature review, an algorithm for platelet testing was developed. Conclusions.--A history of mucocutaneous bleeding often indicates abnormal platelet function that can be associated with a normal, increased, or decreased platelet count. Multiple laboratory procedures can now be used to determine the underlying pathologic condition of platelet dysfunction when other deficiencies or defects of the coagulation cascade or fibrinolysis are ruled out. Simple procedures, such as platelet count, peripheral blood smear, and a platelet function screening test, will often lead the investigator to more specific analyses. Although platelet function testing is often limited to larger medical centers with highly trained technologists, newer technologies are being developed to simplify current procedures and make platelet function testing more accessible. This review provides an algorithm for platelet testing that may be of benefit to pathologists and physicians who deal with hemostatic disorders., Platelets are small (2-[micro]m-diameter), nonnucleated blood cells produced in the bone marrow from megakaryocytes. Platelets are activated rapidly after blood vessel injury or blood exposure to the artificial surfaces of [...]

Published
2002

49. The relationship between CYP2C19 polymorphisms and ischaemic and bleeding outcomes in stable outpatients: the CHARISMA genetics study

Author

Bhatt, Deepak L., Paré, Guillaume, Eikelboom, John W., Simonsen, Katy L., Emison, Eileen S., Fox, Keith A.A., Steg, Ph. Gabriel, Montalescot, Gilles, Bhakta, Nihar, Hacke, Werner, Flather, Marcus D., Mak, Koon-Hou, Cacoub, Patrice, Creager, Mark A., Berger, Peter B., Steinhubl, Steven R., Murugesan, Gurunathan, Mehta, Shamir R., Kottke-Marchant, Kandice, Lincoff, A. Michael, and Topol, Eric J.

Published
2012
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