WorldWideScience

Sample records for carrier slc16a12 associates

  1. The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

    Science.gov (United States)

    Abplanalp, Jeannette; Laczko, Endre; Philp, Nancy J.; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F.; Munier, Francis L.; Verrey, François; Berger, Wolfgang; Camargo, Simone M.R.; Kloeckener-Gruissem, Barbara

    2013-01-01

    Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12. A non-synonymous alteration in MCT12 (p.G407S) found in a patient with age-related cataract (ARC) leads to a significant reduction of creatine transport. Furthermore, Slc16a12 knockout (KO) rats have elevated creatine levels in urine. Transport activity and expression characteristics of the two creatine transporters are distinct. CRT2 (MCT12)-mediated uptake of creatine was not sensitive to sodium and chloride ions or creatine biosynthesis precursors, breakdown product creatinine or creatine phosphate. Increasing pH correlated with increased creatine uptake. Michaelis–Menten kinetics yielded a Vmax of 838.8 pmol/h/oocyte and a Km of 567.4 µm. Relative expression in various human tissues supports the distinct mutation-associated phenotypes of the two transporters. SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels. We discuss the distinct, but possibly synergistic functions of the two creatine transporters. Our findings infer potential preventive power of creatine supplementation against the most prominent age-related vision impaired condition. PMID:23578822

  2. Feelings Associated with Being a Carrier and Characteristics of Reproductive Decision Making in Women Known to Be Carriers of X-linked Conditions.

    Science.gov (United States)

    Kay, Elizabeth; Kingston, Helen

    2002-03-01

    Qualitative data were collected from 14 women known to be carriers of an X-linked condition associated with 'serious' disability on feelings about being a carrier and impact on reproductive decisions. Guilt and responsibility were commonly expressed by carriers about issues surrounding pregnancy. Personal experience of the condition influenced their approach to reproductive decisions. Those who had lived with an affected brother were more concrete in their decisions to avoid having an affected child compared to those with less personal experience of the condition. It is concluded that feelings of guilt associated with difficult reproductive decisions are reflected in the strong sense of responsibility attached to being a carrier. Personal experience of the condition has a clear influence on reproductive decisions of X-linked carriers.

  3. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

    Directory of Open Access Journals (Sweden)

    Fergus J Couch

    Full Text Available BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer, with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8, HR = 1.14, 95% CI: 1.09-1.20. In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8, HR = 1.27, 95% CI: 1.17-1.38 and 4q32.3 (rs4691139, P = 3.4 × 10(-8, HR = 1.20, 95% CI: 1.17-1.38. The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10(-4. These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.

  4. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    Science.gov (United States)

    Wang, Xianshu; McGuffog, Lesley; Lee, Andrew; Olswold, Curtis; Kuchenbaecker, Karoline B.; Soucy, Penny; Fredericksen, Zachary; Barrowdale, Daniel; Dennis, Joe; Gaudet, Mia M.; Dicks, Ed; Kosel, Matthew; Healey, Sue; Sinilnikova, Olga M.; Lee, Adam; Bacot, François; Vincent, Daniel; Hogervorst, Frans B. L.; Peock, Susan; Stoppa-Lyonnet, Dominique; Jakubowska, Anna; Investigators, kConFab; Radice, Paolo; Schmutzler, Rita Katharina; Domchek, Susan M.; Piedmonte, Marion; Singer, Christian F.; Friedman, Eitan; Thomassen, Mads; Hansen, Thomas V. O.; Neuhausen, Susan L.; Szabo, Csilla I.; Blanco, Ignacio; Greene, Mark H.; Karlan, Beth Y.; Garber, Judy; Phelan, Catherine M.; Weitzel, Jeffrey N.; Montagna, Marco; Olah, Edith; Andrulis, Irene L.; Godwin, Andrew K.; Yannoukakos, Drakoulis; Goldgar, David E.; Caldes, Trinidad; Nevanlinna, Heli; Osorio, Ana; Terry, Mary Beth; Daly, Mary B.; van Rensburg, Elizabeth J.; Hamann, Ute; Ramus, Susan J.; Ewart Toland, Amanda; Caligo, Maria A.; Olopade, Olufunmilayo I.; Tung, Nadine; Claes, Kathleen; Beattie, Mary S.; Southey, Melissa C.; Imyanitov, Evgeny N.; Tischkowitz, Marc; Janavicius, Ramunas; John, Esther M.; Kwong, Ava; Diez, Orland; Balmaña, Judith; Barkardottir, Rosa B.; Arun, Banu K.; Rennert, Gad; Teo, Soo-Hwang; Ganz, Patricia A.; Campbell, Ian; van der Hout, Annemarie H.; van Deurzen, Carolien H. M.; Seynaeve, Caroline; Gómez Garcia, Encarna B.; van Leeuwen, Flora E.; Meijers-Heijboer, Hanne E. J.; Gille, Johannes J. P.; Ausems, Margreet G. E. M.; Blok, Marinus J.; Ligtenberg, Marjolijn J. L.; Rookus, Matti A.; Devilee, Peter; Verhoef, Senno; van Os, Theo A. M.; Wijnen, Juul T.; Frost, Debra; Ellis, Steve; Fineberg, Elena; Platte, Radka; Evans, D. Gareth; Izatt, Louise; Eeles, Rosalind A.; Adlard, Julian; Eccles, Diana M.; Cook, Jackie; Brewer, Carole; Douglas, Fiona; Hodgson, Shirley; Morrison, Patrick J.; Side, Lucy E.; Donaldson, Alan; Houghton, Catherine; Rogers, Mark T.; Dorkins, Huw; Eason, Jacqueline; Gregory, Helen; McCann, Emma; Murray, Alex; Calender, Alain; Hardouin, Agnès; Berthet, Pascaline; Delnatte, Capucine; Nogues, Catherine; Lasset, Christine; Houdayer, Claude; Leroux, Dominique; Rouleau, Etienne; Prieur, Fabienne; Damiola, Francesca; Sobol, Hagay; Coupier, Isabelle; Venat-Bouvet, Laurence; Castera, Laurent; Gauthier-Villars, Marion; Léoné, Mélanie; Pujol, Pascal; Mazoyer, Sylvie; Bignon, Yves-Jean; Złowocka-Perłowska, Elżbieta; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska, Katarzyna; Huzarski, Tomasz; Spurdle, Amanda B.; Viel, Alessandra; Peissel, Bernard; Bonanni, Bernardo; Melloni, Giulia; Ottini, Laura; Papi, Laura; Varesco, Liliana; Tibiletti, Maria Grazia; Peterlongo, Paolo; Volorio, Sara; Manoukian, Siranoush; Pensotti, Valeria; Arnold, Norbert; Engel, Christoph; Deissler, Helmut; Gadzicki, Dorothea; Gehrig, Andrea; Kast, Karin; Rhiem, Kerstin; Meindl, Alfons; Niederacher, Dieter; Ditsch, Nina; Plendl, Hansjoerg; Preisler-Adams, Sabine; Engert, Stefanie; Sutter, Christian; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Weber, Bernhard H. F.; Arver, Brita; Stenmark-Askmalm, Marie; Loman, Niklas; Rosenquist, Richard; Einbeigi, Zakaria; Nathanson, Katherine L.; Rebbeck, Timothy R.; Blank, Stephanie V.; Cohn, David E.; Rodriguez, Gustavo C.; Small, Laurie; Friedlander, Michael; Bae-Jump, Victoria L.; Fink-Retter, Anneliese; Rappaport, Christine; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; Tea, Muy-Kheng; Lindor, Noralane M.; Kaufman, Bella; Shimon Paluch, Shani; Laitman, Yael; Skytte, Anne-Bine; Gerdes, Anne-Marie; Pedersen, Inge Sokilde; Moeller, Sanne Traasdahl; Kruse, Torben A.; Jensen, Uffe Birk; Vijai, Joseph; Sarrel, Kara; Robson, Mark; Kauff, Noah; Mulligan, Anna Marie; Glendon, Gord; Ozcelik, Hilmi; Ejlertsen, Bent; Nielsen, Finn C.; Jønson, Lars; Andersen, Mette K.; Ding, Yuan Chun; Steele, Linda; Foretova, Lenka; Teulé, Alex; Lazaro, Conxi; Brunet, Joan; Pujana, Miquel Angel; Mai, Phuong L.; Loud, Jennifer T.; Walsh, Christine; Lester, Jenny; Orsulic, Sandra; Narod, Steven A.; Herzog, Josef; Sand, Sharon R.; Tognazzo, Silvia; Agata, Simona; Vaszko, Tibor; Weaver, Joellen; Stavropoulou, Alexandra V.; Buys, Saundra S.; Romero, Atocha; de la Hoya, Miguel; Aittomäki, Kristiina; Muranen, Taru A.; Duran, Mercedes; Chung, Wendy K.; Lasa, Adriana; Dorfling, Cecilia M.; Miron, Alexander; Benitez, Javier; Senter, Leigha; Huo, Dezheng; Chan, Salina B.; Sokolenko, Anna P.; Chiquette, Jocelyne; Tihomirova, Laima; Friebel, Tara M.; Agnarsson, Bjarni A.; Lu, Karen H.; Lejbkowicz, Flavio; James, Paul A.; Hall, Per; Dunning, Alison M.; Tessier, Daniel; Cunningham, Julie; Slager, Susan L.; Wang, Chen; Hart, Steven; Stevens, Kristen; Simard, Jacques; Pastinen, Tomi; Pankratz, Vernon S.; Offit, Kenneth; Antoniou, Antonis C.

    2013-01-01

    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10−8, HR = 1.14, 95% CI: 1.09–1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10−8, HR = 1.27, 95% CI: 1.17–1.38) and 4q32.3 (rs4691139, P = 3.4×10−8, HR = 1.20, 95% CI: 1.17–1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10−4). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%–50% compared to 81%–100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers. PMID:23544013

  5. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    NARCIS (Netherlands)

    F.J. Couch (Fergus); X. Wang (Xing); L. McGuffog (Lesley); A. Lee (Andrew); C. Olswold (Curtis); K.B. Kuchenbaecker (Karoline); P. Soucy (Penny); Z. Fredericksen (Zachary); D. Barrowdale (Daniel); J. Dennis (Joe); M.M. Gaudet (Mia); E. Dicks (Ed); M. Kosel (Matthew); S. Healey (Sue); O. Sinilnikova (Olga); F. Bacot (Francois); D. Vincent (Daniel); F.B.L. Hogervorst (Frans); S. Peock (Susan); D. Stoppa-Lyonnet (Dominique); A. Jakubowska (Anna); P. Radice (Paolo); R.K. Schmutzler (Rita); S.M. Domchek (Susan); M. Piedmonte (Marion); C.F. Singer (Christian); E. Friedman (Eitan); M. Thomassen (Mads); T.V.O. Hansen (Thomas); S.L. Neuhausen (Susan); C. Szabo (Csilla); I. Blanco (Ignacio); M.H. Greene (Mark); B.Y. Karlan (Beth); J. Garber; C. Phelan (Catherine); J.N. Weitzel (Jeffrey); M. Montagna (Marco); E. Olah; I.L. Andrulis (Irene); A.K. Godwin (Andrew); D. Yannoukakos (Drakoulis); D. Goldgar (David); T. Caldes (Trinidad); H. Nevanlinna (Heli); A. Osorio (Ana); M.-B. Terry (Mary-Beth); M.B. Daly (Mary); E.J. van Rensburg (Elizabeth); U. Hamann (Ute); S.J. Ramus (Susan); A. Ewart-Toland (Amanda); M.A. Caligo (Maria); O.I. Olopade (Olofunmilayo); N. Tung (Nadine); K. Claes (Kathleen); M.S. Beattie (Mary); M.C. Southey (Melissa); E.N. Imyanitov (Evgeny); M. Tischkowitz (Marc); R. Janavicius (Ramunas); E.M. John (Esther); A. Kwong (Ava); O. Diez (Orland); J. Balmana (Judith); R.B. Barkardottir (Rosa); B.K. Arun (Banu); G. Rennert (Gad); S.-H. Teo (Soo-Hwang); P.A. Ganz (Patricia); I. Campbell (Ian); A.H. van der Hout (Annemarie); C.H.M. van Deurzen (Carolien); C.M. Seynaeve (Caroline); E.B. Gómez García (Encarna); F.E. van Leeuwen (F.); H. Meijers-Heijboer (Hanne); J.J. Gille (Johan); M.G.E.M. Ausems (Margreet); M.J. Blok (Marinus); M.J. Ligtenberg (Marjolijn); M.A. Rookus (Matti); P. Devilee (Peter); S. Verhoef; T.A.M. van Os (Theo); J.T. Wijnen (Juul); D. Frost (Debra); S. Ellis (Steve); E. Fineberg (Elena); R. Platte (Radka); D.G. Evans (Gareth); L. Izatt (Louise); R. Eeles (Rosalind); J.W. Adlard (Julian); D. Eccles (Diana); J. Cook (Jackie); C. Brewer (C.); F. Douglas (Fiona); S.V. Hodgson (Shirley); P.J. Morrison (Patrick); L. Side (Lucy); A. Donaldson (Alan); C. Houghton (Catherine); M.T. Rogers (Mark); H. Dorkins (Huw); J. Eason (Jacqueline); H. Gregory (Helen); E. McCann (Emma); A. Murray (Alexandra); A. Calender (Alain); A. Hardouin (Agnès); P. Berthet (Pascaline); C.D. Delnatte (Capucine); C. Nogues (Catherine); C. Lasset (Christine); C. Houdayer (Claude); D. Leroux (Dominique); E. Rouleau (Etienne); F. Prieur (Fabienne); F. Damiola (Francesca); H. Sobol (Hagay); I. Coupier (Isabelle); L. Vénat-Bouvet (Laurence); L. Castera (Laurent); M. Gauthier-Villars (Marion); M. Léone (Mélanie); P. Pujol (Pascal); S. Mazoyer (Sylvie); Y.-J. Bignon (Yves-Jean); E. Złowocka-Perłowska (Elzbieta); J. Gronwald (Jacek); J. Lubinski (Jan); K. Durda (Katarzyna); K. Jaworska (Katarzyna); T. Huzarski (Tomasz); A.B. Spurdle (Amanda); A. Viel (Alessandra); B. Peissel (Bernard); B. Bonnani (Bernardo); G. Melloni (Giulia); L. Ottini (Laura); L. Papi (Laura); L. Varesco (Liliana); M.G. Tibiletti (Maria Grazia); P. Peterlongo (Paolo); S. Volorio (Sara); S. Manoukian (Siranoush); V. Pensotti (Valeria); N. Arnold (Norbert); C. Engel (Christoph); H. Deissler (Helmut); D. Gadzicki (Dorothea); P.A. Gehrig (Paola A.); K. Kast (Karin); K. Rhiem (Kerstin); A. Meindl (Alfons); D. Niederacher (Dieter); N. Ditsch (Nina); H. Plendl (Hansjoerg); S. Preisler-Adams (Sabine); S. Engert (Stefanie); C. Sutter (Christian); R. Varon-Mateeva (Raymonda); B. Wapenschmidt (Barbara); B.H.F. Weber (Bernhard); B. Arver (Brita Wasteson); M. Stenmark-Askmalm (M.); N. Loman (Niklas); R. Rosenquist (R.); Z. Einbeigi (Zakaria); K.L. Nathanson (Katherine); R. Rebbeck (Timothy); S.V. Blank (Stephanie); D.E. Cohn (David); G.C. Rodriguez (Gustavo); L. Small (Laurie); M. Friedlander (Michael); V.L. Bae-Jump (Victoria L.); A. Fink-Retter (Anneliese); C. Rappaport (Christine); D. Gschwantler-Kaulich (Daphne); G. Pfeiler (Georg); M.-K. Tea; N.M. Lindor (Noralane); B. Kaufman (Bella); S. Shimon Paluch (Shani); Y. Laitman (Yael); A.-B. Skytte (Anne-Bine); A-M. Gerdes (Anne-Marie); I.S. Pedersen (Inge Sokilde); S.T. Moeller (Sanne Traasdahl); T.A. Kruse (Torben); U.B. Jensen; J. Vijai (Joseph); K. Sarrel (Kara); M. Robson (Mark); N. Kauff (Noah); A.M. Mulligan (Anna Marie); G. Glendon (Gord); H. Ozcelik (Hilmi); B. Ejlertsen (Bent); F.C. Nielsen (Finn); L. Jønson (Lars); M.K. Andersen (Mette); Y.C. Ding (Yuan); L. Steele (Linda); L. Foretova (Lenka); A. Teulé (A.); C. Lazaro (Conxi); J. Brunet (Joan); M.A. Pujana (Miguel); P.L. Mai (Phuong); J.T. Loud (Jennifer); C.S. Walsh (Christine); K.J. Lester (Kathryn); S. Orsulic (Sandra); S. Narod (Steven); J. Herzog (Josef); S.R. Sand (Sharon); S. Tognazzo (Silvia); S. Agata (Simona); T. Vaszko (Tibor); J. Weaver (JoEllen); A. Stavropoulou (Alexandra); S.S. Buys (Saundra); A. Romero (Alfonso); M. de La Hoya (Miguel); K. Aittomäki (Kristiina); T.A. Muranen (Taru); M. Durán (Mercedes); W.K. Chung (Wendy); A. Lasa (Adriana); C.M. Dorfling (Cecelia); A. Miron (Alexander); J. Benítez (Javier); L. Senter (Leigha); D. Huo (Dezheng); S. Chan (Salina); A. Sokolenko (Anna); J. Chiquette (Jocelyne); L. Tihomirova (Laima); M.O.W. Friebel (Mark ); B.A. Agnarsson (Bjarni); K.H. Lu (Karen); F. Lejbkowicz (Flavio); P.A. James (Paul ); A.S. Hall (Alistair); A.M. Dunning (Alison); Y. Tessier (Yann); J. Cunningham (Jane); S. Slager (Susan); C. Wang (Chen); S. Hart (Stewart); K. Stevens (Kristen); J. Simard (Jacques); T. Pastinen (Tomi); V.S. Pankratz (Shane); K. Offit (Kenneth); D.F. Easton (Douglas); G. Chenevix-Trench (Georgia); A.C. Antoniou (Antonis); H. Thorne (Heather); E. Niedermayr (Eveline); Å. Borg (Åke); H. Olsson; H. Jernström (H.); K. Henriksson (Karin); K. Harbst (Katja); M. Soller (Maria); U. Kristoffersson (Ulf); A. Öfverholm (Anna); M. Nordling (Margareta); P. Karlsson (Per); A. von Wachenfeldt (Anna); A. Liljegren (Annelie); A. Lindblom (Annika); G.B. Bustinza; J. Rantala (Johanna); B. Melin (Beatrice); C.E. Ardnor (Christina Edwinsdotter); M. Emanuelsson (Monica); H. Ehrencrona (Hans); M.H. Pigg (Maritta ); S. Liedgren (Sigrun); M.A. Rookus (M.); S. Verhoef (S.); F.E. van Leeuwen (F.); M.K. Schmidt (Marjanka); J.L. de Lange (J.); J.M. Collée (Margriet); A.M.W. van den Ouweland (Ans); M.J. Hooning (Maartje); C.J. van Asperen (Christi); J.T. Wijnen (Juul); R.A.E.M. Tollenaar (Rob); P. Devilee (Peter); T.C.T.E.F. van Cronenburg; C.M. Kets; A.R. Mensenkamp (Arjen); R.B. van der Luijt (Rob); C.M. Aalfs (Cora); T.A.M. van Os (Theo); Q. Waisfisz (Quinten); E.J. Meijers-Heijboer (Hanne); E.B. Gomez Garcia (Encarna); J.C. Oosterwijk (Jan); M.J. Mourits (Marjan); G.H. de Bock (Geertruida); S.D. Ellis (Steve); E. Fineberg (Elena); Z. Miedzybrodzka (Zosia); L. Jeffers (Lisa); T.J. Cole (Trevor); K.-R. Ong (Kai-Ren); J. Hoffman (Jonathan); M. James (Margaret); J. Paterson (Joan); A. Taylor (Amy); A. Murray (Anna); M.J. Kennedy (John); D.E. Barton (David); M.E. Porteous (Mary); S. Drummond (Sarah); C. Brewer (Carole); E. Kivuva (Emma); A. Searle (Anne); S. Goodman (Selina); R. Davidson (Rosemarie); V. Murday (Victoria); N. Bradshaw (Nicola); L. Snadden (Lesley); M. Longmuir (Mark); C. Watt (Catherine); S. Gibson (Sarah); E. Haque (Eshika); E. Tobias (Ed); A. Duncan (Alexis); L. Izatt (Louise); C. Jacobs (Chris); C. Langman (Caroline); A.F. Brady (Angela); S.A. Melville (Scott); K. Randhawa (Kashmir); J. Barwell (Julian); G. Serra-Feliu (Gemma); I.O. Ellis (Ian); F. Lalloo (Fiona); J. Taylor (James); A. Male (Alison); C. Berlin (Cheryl); R. Collier (Rebecca); F. Douglas (Fiona); O. Claber (Oonagh); I. Jobson (Irene); L.J. Walker (Lisa); D. McLeod (Diane); D. Halliday (Dorothy); S. Durell (Sarah); B. Stayner (Barbara); S. Shanley (Susan); N. Rahman (Nazneen); R. Houlston (Richard); A. Stormorken (Astrid); E.K. Bancroft (Elizabeth); E. Page (Elizabeth); A. Ardern-Jones (Audrey); K. Kohut (Kelly); J. Wiggins (Jennifer); E. Castro (Elena); S.R. Killick; S. Martin (Sue); D. Rea (Dan); A. Kulkarni (Anjana); O. Quarrell (Oliver); C. Bardsley (Cathryn); S. Goff (Sheila); G. Brice (Glen); L. Winchester (Lizzie); C. Eddy (Charlotte); V. Tripathi (Vishakha); V. Attard (Virginia); A. Lehmann (Anna); A. Lucassen (Anneke); G. Crawford (Gabe); D. McBride (Donna); S. Smalley (Sarah); S. Mazoyer (Sylvie); F. Damiola (Francesca); L. Barjhoux (Laure); C. Verny-Pierre (Carole); S. Giraud (Sophie); D. Stoppa-Lyonnet (Dominique); B. Buecher (Bruno); V. Moncoutier (Virginie); M. Belotti (Muriel); C. Tirapo (Carole); A. de Pauw (Antoine); B. Bressac-de Paillerets (Brigitte); O. Caron (Olivier); Y.-J. Bignon (Yves-Jean); N. Uhrhammer (Nancy); V. Bonadona (Valérie); S. Handallou (Sandrine); A. hardouin (Agnès); H. Sobol (Hagay); V. Bourdon (Violaine); T. Noguchi (Tetsuro); A. Remenieras (Audrey); F. Eisinger (François); J.-P. Peyrat; J. Fournier (Joëlle); F. Révillion (Françoise); P. Vennin (Philippe); C. Adenis (Claude); R. Lidereau (Rosette); L. Demange (Liliane); D.W. Muller (Danièle); J.P. Fricker (Jean Pierre); E. Barouk-Simonet (Emmanuelle); F. Bonnet (Françoise); V. Bubien (Virginie); N. Sevenet (Nicolas); M. Longy (Michel); C. Toulas (Christine); R. Guimbaud (Rosine); L. Gladieff (Laurence); V. Feillel (Viviane); H. Dreyfus (Hélène); C. Rebischung (Christine); M. Peysselon (Magalie); F. Coron (Fanny); L. Faivre (Laurence); M. Lebrun (Marine); C. Kientz (Caroline); S.F. Ferrer; M. Frenay (Marc); I. Mortemousque (Isabelle); F. Coulet (Florence); C. Colas (Chrystelle); F. Soubrier; J. Sokolowska (Johanna); M. Bronner (Myriam); H. Lynch (Henry); C.L. Snyder (Carrie); M. Angelakos (Maggie); J. Maskiell (Judi); G.S. Dite (Gillian)

    2013-01-01

    textabstractBRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer),

  6. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

    NARCIS (Netherlands)

    Couch, Fergus J.; Wang, Xianshu; McGuffog, Lesley; Lee, Andrew; Olswold, Curtis; Kuchenbaecker, Karoline B.; Soucy, Penny; Fredericksen, Zachary; Barrowdale, Daniel; Dennis, Joe; Gaudet, Mia M.; Dicks, Ed; Kosel, Matthew; Healey, Sue; Sinilnikova, Olga M.; Lee, Adam; Bacot, François; Vincent, Daniel; Hogervorst, Frans B. L.; Peock, Susan; Stoppa-Lyonnet, Dominique; Jakubowska, Anna; Radice, Paolo; Schmutzler, Rita Katharina; Domchek, Susan M.; Piedmonte, Marion; Singer, Christian F.; Friedman, Eitan; Thomassen, Mads; Hansen, Thomas V. O.; Neuhausen, Susan L.; Szabo, Csilla I.; Blanco, Ignacio; Greene, Mark H.; Karlan, Beth Y.; Garber, Judy; Phelan, Catherine M.; Weitzel, Jeffrey N.; Montagna, Marco; Olah, Edith; Andrulis, Irene L.; Godwin, Andrew K.; Yannoukakos, Drakoulis; Goldgar, David E.; Caldes, Trinidad; Nevanlinna, Heli; Osorio, Ana; Terry, Mary Beth; Daly, Mary B.; van Rensburg, Elizabeth J.; Hamann, Ute; Ramus, Susan J.; Toland, Amanda Ewart; Caligo, Maria A.; Olopade, Olufunmilayo I.; Tung, Nadine; Claes, Kathleen; Beattie, Mary S.; Southey, Melissa C.; Imyanitov, Evgeny N.; Tischkowitz, Marc; Janavicius, Ramunas; John, Esther M.; Kwong, Ava; Diez, Orland; Balmaña, Judith; Barkardottir, Rosa B.; Arun, Banu K.; Rennert, Gad; teo, Soo-Hwang; Ganz, Patricia A.; Campbell, Ian; van der Hout, Annemarie H.; van Deurzen, Carolien H. M.; Seynaeve, Caroline; Gómez Garcia, Encarna B.; van Leeuwen, Flora E.; Meijers-Heijboer, Hanne E. J.; Gille, Johannes J. P.; Ausems, Margreet G. E. M.; Blok, Marinus J.; Ligtenberg, Marjolijn J. L.; Rookus, Matti A.; Devilee, Peter; Verhoef, Senno; van Os, Theo A. M.; Wijnen, Juul T.; Frost, Debra; Ellis, Steve; Fineberg, Elena; Platte, Radka; Evans, D. Gareth; Izatt, Louise; Eeles, Rosalind A.; Adlard, Julian; Eccles, Diana M.; Cook, Jackie; Brewer, Carole; Douglas, Fiona; Hodgson, Shirley; Morrison, Patrick J.; Side, Lucy E.; Donaldson, Alan; Houghton, Catherine; Rogers, Mark T.; Dorkins, Huw; Eason, Jacqueline; Gregory, Helen; McCann, Emma; Murray, Alex; Calender, Alain; Hardouin, Agnès; Berthet, Pascaline; Delnatte, Capucine; Nogues, Catherine; Lasset, Christine; Houdayer, Claude; Leroux, Dominique; Rouleau, Etienne; Prieur, Fabienne; Damiola, Francesca; Sobol, Hagay; Coupier, Isabelle; Venat-Bouvet, Laurence; Castera, Laurent; Gauthier-Villars, Marion; Léoné, Mélanie; Pujol, Pascal; Mazoyer, Sylvie; Bignon, Yves-Jean; Złowocka-Perłowska, Elżbieta; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska, Katarzyna; Huzarski, Tomasz; Spurdle, Amanda B.; Viel, Alessandra; Peissel, Bernard; Bonanni, Bernardo; Melloni, Giulia; Ottini, Laura; Papi, Laura; Varesco, Liliana; Tibiletti, Maria Grazia; Peterlongo, Paolo; Volorio, Sara; Manoukian, Siranoush; Pensotti, Valeria; Arnold, Norbert; Engel, Christoph; Deissler, Helmut; Gadzicki, Dorothea; Gehrig, Andrea; Kast, Karin; Rhiem, Kerstin; Meindl, Alfons; Niederacher, Dieter; Ditsch, Nina; Plendl, Hansjoerg; Preisler-Adams, Sabine; Engert, Stefanie; Sutter, Christian; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Weber, Bernhard H. F.; Arver, Brita; Stenmark-Askmalm, Marie; Loman, Niklas; Rosenquist, Richard; Einbeigi, Zakaria; Nathanson, Katherine L.; Rebbeck, Timothy R.; Blank, Stephanie V.; Cohn, David E.; Rodriguez, Gustavo C.; Small, Laurie; Friedlander, Michael; Bae-Jump, Victoria L.; Fink-Retter, Anneliese; Rappaport, Christine; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; tea, Muy-Kheng; Lindor, Noralane M.; Kaufman, Bella; Shimon Paluch, Shani; Laitman, Yael; Skytte, Anne-Bine; Gerdes, Anne-Marie; Pedersen, Inge Sokilde; Moeller, Sanne Traasdahl; Kruse, Torben A.; Jensen, Uffe Birk; Vijai, Joseph; Sarrel, Kara; Robson, Mark; Kauff, Noah; Mulligan, Anna Marie; Glendon, Gord; Ozcelik, Hilmi; Ejlertsen, Bent; Nielsen, Finn C.; Jønson, Lars; Andersen, Mette K.; Ding, Yuan Chun; Steele, Linda; Foretova, Lenka; Teulé, Alex; Lazaro, Conxi; Brunet, Joan; Pujana, Miquel Angel; Mai, Phuong L.; Loud, Jennifer T.; Walsh, Christine; Lester, Jenny; Orsulic, Sandra; Narod, Steven A.; Herzog, Josef; Sand, Sharon R.; Tognazzo, Silvia; Agata, Simona; Vaszko, Tibor; Weaver, Joellen; Stavropoulou, Alexandra V.; Buys, Saundra S.; Romero, Atocha; de la Hoya, Miguel; Aittomäki, Kristiina; Muranen, Taru A.; Duran, Mercedes; Chung, Wendy K.; Lasa, Adriana; Dorfling, Cecilia M.; Miron, Alexander; Benitez, Javier; Senter, Leigha; Huo, Dezheng; Chan, Salina B.; Sokolenko, Anna P.; Chiquette, Jocelyne; Tihomirova, Laima; Friebel, Tara M.; Agnarsson, Bjarni A.; Lu, Karen H.; Lejbkowicz, Flavio; James, Paul A.; Hall, Per; Dunning, Alison M.; Tessier, Daniel; Cunningham, Julie; Slager, Susan L.; Wang, Chen; Hart, Steven; Stevens, Kristen; Simard, Jacques; Pastinen, Tomi; Pankratz, Vernon S.; Offit, Kenneth; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.

    2013-01-01

    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a

  7. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

    DEFF Research Database (Denmark)

    Couch, Fergus J; Wang, Xianshu; McGuffog, Lesley

    2013-01-01

    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a fur...

  8. The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers.

    Science.gov (United States)

    Ko, Kwang-Pil; Kim, Shana J; Huzarski, Tomasz; Gronwald, Jacek; Lubinski, Jan; Lynch, Henry T; Armel, Susan; Park, Sue K; Karlan, Beth; Singer, Christian F; Neuhausen, Susan L; Narod, Steven A; Kotsopoulos, Joanne

    2018-06-01

    Tobacco smoke is an established carcinogen, but the association between tobacco smoking and cancer risk in BRCA mutation carriers is not clear. The aim of this study was to evaluate prospectively the association between tobacco smoking and cancer incidence in a cohort of BRCA1 and BRCA2 mutation carriers. The study population consisted of unaffected BRCA mutation carriers. Information on lifestyle including smoking histories, reproductive factors, and past medical histories was obtained through questionnaires. Incident cancers were updated biennially via follow-up questionnaires. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using time-dependent Cox regression models. There were 700 incident cancers diagnosed over 26,711 person-years of follow-up. The most frequent cancers seen in BRCA mutation carriers were breast (n = 428; 61%) and ovarian (n = 109; 15%) cancer. Compared to nonsmokers, (ever) smoking was associated with a modest increased risk of all cancers combined (HR = 1.17; 95%CI 1.01-1.37). Women in the highest group of total pack-years (4.3-9.8) had an increased risk of developing any cancer (HR = 1.27; 95%CI 1.04-1.56), breast cancer (HR = 1.33, 95%CI 1.02-1.75), and ovarian cancer (HR = 1.68; 95%CI 1.06-2.67) compared to never smokers. The associations between tobacco smoking and cancer did not differ by BRCA mutation type or by age at diagnosis. This prospective study suggests that tobacco smoking is associated with a modest increase in the risks of breast and ovarian cancer among women with BRCA1 or BRCA2 mutation. © 2018 UICC.

  9. Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.

    Science.gov (United States)

    Ram, Suresh; Devapriya, Inoka A; Fenton, Grace; Mcvay, Lindsey; Nguyen, Danh V; Tassone, Flora; Maselli, Ricardo A; Hagerman, Randi J

    2015-08-01

    In this study we examined whether females with the fragile X-associated tremor ataxia syndrome (FXTAS) and non-FXTAS premutation carriers have electrophysiological signs of underlying peripheral neuropathy. Nerve conduction studies (NCS) were performed on 19 women with FXTAS, 20 non-FXTAS carriers, and 26 age-matched controls. The results were compared with existing data on corresponding male carriers. Women with FXTAS and non-FXTAS carriers had reduced sensory nerve action potential amplitudes. Also, there was a strong trend for reduced compound muscle action potential amplitudes in women with FXTAS, but not in non-FXTAS carriers. No significant slowing of nerve conduction velocities, prolongation of F-wave latencies, or associations with molecular measures was observed. This study suggests an underlying axonal neuropathy in women with FXTAS. However, in comparison to men with FXTAS, the NCS abnormalities in women were less severe, possibly due to the effect of a normal X chromosome. © 2014 Wiley Periodicals, Inc.

  10. Genotypic carriers of the obesity-associated FTO polymorphism exhibit different cardiometabolic profiles after an intervention

    Directory of Open Access Journals (Sweden)

    GREICE G. MORAES

    Full Text Available ABSTRACT Background: Children and adolescents with at-risk genotypes (AA/AT of the rs9939609 polymorphism in FTO, a fat mass and obesity-associated gene, may exhibit different cardiometabolic profile responses than subjects with the TT genotype after an interdisciplinary intervention. Methods: The sample consisted of 36 school children from southern Brazil. We used DNA quantitation and real-time polymerase chain reaction (PCR for polymorphism genotyping. We measured anthropometric parameters (body mass index (BMI, waist circumference, hip circumference, waist-hip ratio, body fat percentage and skinfold sum, biochemical parameters (glucose, lipid profile, ultra-sensitive C-reactive protein, uric acid, alanine aminotransferase, aspartate aminotransferase, insulin and adiponectin and blood pressure. The 4-month intervention consisted of physical education classes, nutritional counseling, and postural and oral health counseling. Results: We observed no significant differences among the groups (AA, AT and TT after the intervention. However, we observed improvements in three parameters (waist circumference, hip circumference and C-reactive protein in the AT/AA genotype group and in two parameters (hip circumference and uric acid in the TT genotype group. Conclusions: After an intervention program, carriers of at-risk genotypes for obesity (AA/AT do not exhibit differences in biochemical parameters, blood pressure and anthropometric parameters compared with carriers of the TT genotype.

  11. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression

    DEFF Research Database (Denmark)

    Hamdi, Yosr; Soucy, Penny; Kuchenbaeker, Karoline B

    2017-01-01

    and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. RESULTS: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most...... studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.......1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast...

  12. Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels.

    Science.gov (United States)

    Cruchaga, Carlos; Graff, Caroline; Chiang, Huei-Hsin; Wang, Jun; Hinrichs, Anthony L; Spiegel, Noah; Bertelsen, Sarah; Mayo, Kevin; Norton, Joanne B; Morris, John C; Goate, Alison

    2011-05-01

    To test whether rs1990622 (TMEM106B) is associated with age at onset (AAO) in granulin (GRN) mutation carriers and with plasma GRN levels in mutation carriers and healthy, elderly individuals. Rs1990622 (TMEM106B) was identified as a risk factor for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP) in a recent genome-wide association. Rs1990622 was genotyped in GRN mutation carriers and tested for association with AAO using the Kaplan-Meier method and a Cox proportional hazards model. Alzheimer's Disease Research Center. Subjects  We analyzed 50 affected and unaffected GRN mutation carriers from 4 previously reported FTLD-TDP families (HDDD1, FD1, HDDD2, and the Karolinska family). The GRN plasma levels were also measured in 73 healthy, elderly individuals. Age at onset and GRN plasma levels. The risk allele of rs1990622 was associated with a mean decrease of the AAO of 13 years (P = 9.9 × 10(-7)) and with lower plasma GRN levels in both healthy older adults (P = 4 × 10(-4)) and GRN mutation carriers (P = .0027). Analysis of the HapMap database identified a nonsynonymous single-nucleotide polymorphism rs3173615 (T185S) in perfect linkage disequilibrium with rs1990622. The association of rs1990622 with AAO explains, in part, the wide range in the AAO of disease among GRN mutation carriers. We hypothesize that rs1990622 or another variant in linkage disequilibrium could act in a manner similar to APOE in Alzheimer disease, increasing risk for disease in the general population and modifying AAO in mutation carriers. Our results also suggest that genetic variation in TMEM106B may influence risk for FTLD-TDP by modulating secreted levels of GRN.

  13. TMEM106B gene polymorphism is associated with age at onset in granulin mutation carriers and plasma granulin protein levels

    Science.gov (United States)

    Cruchaga, Carlos; Graff, Caroline; Chiang, Huei-Hsin; Wang, Jun; Hinrichs, Anthony L.; Spiegel, Noah; Bertelsen, Sarah; Mayo, Kevin; Norton, Joanne B.; Morris, John C.; Goate, Alison

    2011-01-01

    Objective A recent genome-wide association study for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP), identified rs1990622 (TMEM106B) as a risk factor for FTLD-TDP. In this study we tested whether rs1990622 is associated with age at onset (AAO) in granulin (GRN) mutation carriers and with plasma GRN levels in mutation carriers and healthy elderly individuals. Design Rs1990622 was genotyped in GRN mutation carriers and tested for association with AAO using the Kaplan-Meier and a Cox proportional hazards model. Subjects We analyzed 50 affected and unaffected GRN mutation carriers from four previously reported FTLD-TDP families (HDDD1, FD1, HDDD2 and the Karolinska family). GRN plasma levels were also measured in 73 healthy, elderly individuals. Results The risk allele of rs1990622 is associated with a mean decrease of the age at onset of thirteen years (p=9.9×10−7), with lower plasma granulin levels in both healthy older adults (p = 4×10−4) and GRN mutation carriers (p=0.0027). Analysis of the HAPMAP database identified a non-synonymous single nucleotide polymorphism, rs3173615 (T185S) in perfect linkage disequilibrium with rs1990622. Conclusions The association of rs1990622 with AAO explains, in part, the wide range in the age at onset of disease among GRN mutation carriers. We hypothesize that rs1990622 or another variant in linkage disequilibrium could act in a manner similar to APOE in Alzheimer’s disease, increasing risk for disease in the general population and modifying AAO in mutation carriers. Our results also suggest that genetic variation in TMEM106B may influence risk for FTLD-TDP by modulating secreted levels of GRN. PMID:21220649

  14. Smooth muscle antibodies and cryoglobulinemia are associated with advanced liver fibrosis in Brazilian hepatitis C virus carriers

    Directory of Open Access Journals (Sweden)

    Luis Jesuino de Oliveira Andrade

    Full Text Available Cryoglobulinemia and non-organ-specific-autoantibody are biomarkers of autoimmunity of the chronic infection caused by hepatitis C virus (HCV. In this work, we report the association between the presence of smooth muscle antibodies (SMA and cryoglobulinemia and chronic liver disease in HCV carriers. Sixty-five untreated HCV patients, 38 women and 27 men were included in this study. Cryoglobulinemia was tested by cryoprecipitation, SMA by indirect fluorescent antibody test, and liver fibrosis and hepatocellular inflammation activity was investigated by histology of liver biopsy using the METAVIR score. The prevalence of SMA in the patients was 33.8% and cryoglobulinemia was demonstrated in 36.9% patients. Cryoglobulinemia and SMA seropositivity was associated with advanced fibrosis (p < 0.05. The presence of SMA and cryoglobulinemia was not associated with hepatocellular inflammation activity, age, carrier gender or HCV genotype. We concluded that liver biopsy should be recommended for HCV carriers that are seropositive for SMA or cryoglobulinemia.

  15. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression

    DEFF Research Database (Denmark)

    Hamdi, Yosr; Soucy, Penny; Kuchenbaeker, Karoline B

    2017-01-01

    1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast...... and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. RESULTS: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most...... significant SNP rs228595 p = 7 × 10(-6)). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1...

  16. Cardiovascular Fitness is Associated with Altered Cortical Glucose Metabolism During Working Memory in ε4 Carriers

    Science.gov (United States)

    Deeny, Sean P.; Winchester, Jeanna; Nichol, Kathryn; Roth, Stephen M.; Wu, Joseph C.; Dick, Malcolm; Cotman, Carl W.

    2012-01-01

    Background The possibility that ε4 may modulate the effects of fitness in the brain remains controversial. The present exploratory FDG-PET study aimed to better understand the relationship among ε4, fitness and cerebral metabolism in 18 healthy aged females (9 Carriers, 9 Non-carriers) during working memory. Methods Participants underwent VO2 max, CVLT and FDG-PET, collected at rest and during completion of the Sternberg Working Memory Task. Results Resting FDG-PET did not differ between carriers and non-carriers. Significant effects of fitness on FDG-PET during working memory was noted in the ε4 carriers only. High Fit ε4 carriers had greater glucose uptake than the Low Fit in the temporal lobe, but Low Fit had greater glucose uptake in the frontal and parietal lobes. Conclusion(s) We demonstrate that fitness differentially affects cerebral metabolism in ε4 carriers only, consistent with previous findings that the effects of fitness may be more pronounced in populations genetically at risk for cognitive decline. PMID:22226798

  17. Cardiovascular fitness is associated with altered cortical glucose metabolism during working memory in ɛ4 carriers.

    Science.gov (United States)

    Deeny, Sean P; Winchester, Jeanna; Nichol, Kathryn; Roth, Stephen M; Wu, Joseph C; Dick, Malcolm; Cotman, Carl W

    2012-07-01

    The possibility that ɛ4 may modulate the effects of fitness in the brain remains controversial. The present exploratory FDG-PET study aimed to better understand the relationship among ɛ4, fitness, and cerebral metabolism in 18 healthy aged women (nine carriers, nine noncarriers) during working memory. Participants were evaluated using maximal level of oxygen consumption, California Verbal Learning Test, and FDG-PET, which were collected at rest and during completion of the Sternberg working memory task. Resting FDG-PET did not differ between carriers and noncarriers. Significant effects of fitness on FDG-PET during working memory were noted in the ɛ4 carriers only. High fit ɛ4 carriers had greater glucose uptake in the temporal lobe than the low fit ɛ4 carriers, but low fit ɛ4 carriers had greater glucose uptake in the frontal and parietal lobes. We demonstrate that fitness differentially affects cerebral metabolism in ɛ4 carriers only, consistent with previous findings that the effects of fitness may be more pronounced in populations genetically at risk for cognitive decline. Published by Elsevier Inc.

  18. Delivery of gentamicin from resorbable polymeric carriers as anti-infective strategy for implant-associated osteomyelitis

    NARCIS (Netherlands)

    ter Boo, G.A.

    2016-01-01

    This thesis describes the development of gentamicin loaded resorbable polymeric carriers as anti-infective strategy for implant-associated osteomyelitis and their in vitro and in vivo evaluation. Local delivery of antibiotics has several advantages in the case of trauma to the bone and surrounding

  19. Stearoyl-acyl carrier protein desaturases are associated with floral isolation in sexually deceptive orchids

    Energy Technology Data Exchange (ETDEWEB)

    Schluter, P.M.; Shanklin, J.; Xu, S.; Gagliardini, V.; Whittle, E.; Grossniklaus, U.; Schiestl, F. P.

    2011-04-05

    The orchids Ophrys sphegodes and O. exaltata are reproductively isolated from each other by the attraction of two different, highly specific pollinator species. For pollinator attraction, flowers chemically mimic the pollinators sex pheromones, the key components of which are alkenes with different double-bond positions. This study identifies genes likely involved in alkene biosynthesis, encoding stearoyl-acyl carrier protein (ACP) desaturase (SAD) homologs. The expression of two isoforms, SAD1 and SAD2, is flower-specific and broadly parallels alkene production during flower development. SAD2 shows a significant association with alkene production, and in vitro assays show that O. sphegodes SAD2 has activity both as an 18:0-ACP {Delta}{sup 9} and a 16:0-ACP {Delta}{sup 4} desaturase. Downstream metabolism of the SAD2 reaction products would give rise to alkenes with double-bonds at position 9 or position 12, matching double-bond positions observed in alkenes in the odor bouquet of O. sphegodes. SAD1 and SAD2 show evidence of purifying selection before, and positive or relaxed purifying selection after gene duplication. By contributing to the production of species-specific alkene bouquets, SAD2 is suggested to contribute to differential pollinator attraction and reproductive isolation among these species. Taken together, these data are consistent with the hypothesis that SAD2 is a florally expressed barrier gene of large phenotypic effect and, possibly, a genic target of pollinator-mediated selection.

  20. Safety of American Heart Association-recommended minimum exercise for desmosomal mutation carriers.

    Science.gov (United States)

    Sawant, Abhishek C; Te Riele, Anneline S J M; Tichnell, Crystal; Murray, Brittney; Bhonsale, Aditya; Tandri, Harikrishna; Judge, Daniel P; Calkins, Hugh; James, Cynthia A

    2016-01-01

    Endurance exercise is associated with adverse outcomes in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Exercise recommendations for family members remain undetermined. The purposes of this study were to determine if (1) endurance exercise (Bethesda class C) and exercise intensity (metabolic equivalent hours per year [MET-Hr/year]) increase the likelihood of fulfilling 2010 Task Force Criteria and ventricular arrhythmias/implantable cardioverter-defibrillator shock (ventricular tachycardia/ventricular fibrillation [VT/VF]), and (2) exercise restriction to the American Heart Association (AHA)-recommended minimum for healthy adults is associated with favorable outcomes of at-risk family members. Twenty-eight family members of 10 probands inheriting a PKP2 mutation were interviewed about exercise from age 10. Exercise threshold to maintain overall health was based on the 2007 AHA guidelines of a minimum 390 to 650 MET-Hr/year. After adjustment for age, sex, and family membership, both participation in endurance athletics (odds ratio [OR] 7.4, P = .03) and higher-intensity exercise (OR = 4.2, P = .004) were associated with diagnosis (n = 13). Endurance athletes were also significantly more likely to develop VT/VF (n = 6, P = .02). Family members who restricted exercise at or below the upper bound of the AHA goal (≤650 MET-Hr/year) were significantly less likely to be diagnosed (OR = 0.07, P = .002) and had no VT/VF. At diagnosis and first VT/VF, family members had accumulated 2.8-fold (P = .002) and 3.5-fold (P = .03), respectively, greater MET-Hr exercise than the AHA-recommended minimum. Those who developed VT/VF had performed particularly high-intensity exercise in adolescence compared to unaffected family members (age 10-14: P = .04; age 14-19: P = .02). The results of this study suggest restricting unaffected desmosomal mutation carriers from endurance and high-intensity athletics but potentially not from AHA

  1. Clonal Distribution of Disease-Associated and Healthy Carrier Isolates of Neisseria meningitidis between 1983 and 2005 in Cuba ▿

    Science.gov (United States)

    Climent, Yanet; Yero, Daniel; Martinez, Isabel; Martín, Alejandro; Jolley, Keith A.; Sotolongo, Franklin; Maiden, Martin C. J.; Urwin, Rachel; Pajón, Rolando

    2010-01-01

    In response to epidemic levels of serogroup B meningococcal disease in Cuba during the 1980s, the VA-MENGOC-BC vaccine was developed and introduced into the National Infant Immunization Program in 1991. Since then the incidence of meningococcal disease in Cuba has returned to the low levels recorded before the epidemic. A total of 420 Neisseria meningitidis strains collected between 1983 and 2005 in Cuba were analyzed by multilocus sequence typing (MLST). The set of strains comprised 167 isolated from disease cases and 253 obtained from healthy carriers. By MLST analysis, 63 sequence types (STs) were identified, and 32 of these were reported to be a new ST. The Cuban isolates were associated with 12 clonal complexes; and the most common were ST-32 (246 isolates), ST-53 (86 isolates), and ST-41/44 (36 isolates). This study also showed that the application of VA-MENGOC-BC, the Cuban serogroup B and C vaccine, reduced the frequency and diversity of hypervirulent clonal complexes ST-32 (vaccine serogroup B type-strain) and ST-41/44 and also affected other lineages. Lineages ST-8 and ST-11 were no longer found during the postvaccination period. The vaccine also affected the genetic composition of the carrier-associated meningococcal isolates. The number of carrier isolates belonging to hypervirulent lineages decreased significantly after vaccination, and ST-53, a sequence type common in carriers, became the predominant ST. PMID:20042619

  2. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

    NARCIS (Netherlands)

    Wang, Xianshu; Pankratz, V. Shane; Fredericksen, Zachary; Tarrell, Robert; Karaus, Mary; McGuffog, Lesley; Pharaoh, Paul D. P.; Ponder, Bruce A. J.; Dunning, Alison M.; Peock, Susan; Cook, Margaret; Oliver, Clare; Frost, Debra; Sinilnikova, Olga M.; Stoppa-Lyonnet, Dominique; Mazoyer, Sylvie; Houdayer, Claude; Hogervorst, Frans B. L.; Hooning, Maartje J.; Ligtenberg, Marjolijn J.; Spurdle, Amanda; Chenevix-Trench, Georgia; Schmutzler, Rita K.; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy R.; Singer, Christian F.; Gschwantler-Kaulich, Daphne; Dressler, Catherina; Fink, Anneliese; Szabo, Csilla I.; Zikan, Michal; Foretova, Lenka; Claes, Kathleen; Thomas, Gilles; Hoover, Robert N.; Hunter, David J.; Chanock, Stephen J.; Easton, Douglas F.; Antoniou, Antonis C.; Couch, Fergus J.; Gregory, Helen; Miedzybrodzka, Zosia; Morrison, Patrick; Cole, Trevor; McKeown, Carole; Taylor, Amy; Donaldson, Alan; Paterson, Joan; Murray, Alexandra; Rogers, Mark; McCann, Emma; Kennedy, John; Barton, David; Porteous, Mary; Brewer, Carole; Kivuva, Emma; Searle, Anne; Goodman, Selina; Davidson, Rosemarie; Murday, Victoria; Bradshaw, Nicola; Snadden, Lesley; Longmuir, Mark; Watt, Catherine; Izatt, Louise; Pichert, Gabriella; Langman, Caroline; Dorkins, Huw; Barwell, Julian; Chu, Carol; Bishop, Tim; Miller, Julie; Ellis, Ian; Evans, D. Gareth; Lalloo, Fiona; Holt, Felicity; Male, Alison; Robinson, Anne; Gardiner, Carol; Douglas, Fiona; Claber, Oonagh; Walker, Lisa; McLeod, Diane; Eeles, Ros; Shanley, Susan; Rahman, Nazneen; Houlston, Richard; Bancroft, Elizabeth; D'Mello, Lucia; Page, Elizabeth; Ardern-Jones, Audrey; Mitra, Anita; Cook, Jackie; Quarrell, Oliver; Bardsley, Cathryn; Hodgson, Shirley; Goff, Sheila; Brice, Glen; Winchester, Lizzie; Eccles, Diana; Lucassen, Anneke; Crawford, Gillian; Tyler, Emma; McBride, Donna; Bérard, Léon; Sinilnikova, Olga; Barjhoux, Laure; Giraud, Sophie; Léone, Mélanie; Gauthier-Villars, Marion; Moncoutier, Virginie; Belotti, Muriel; de Pauw, Antoine; Bressac-de-Paillerets, Brigitte; Remenieras, Audrey; Byrde, Véronique; Caron, Olivier; Lenoir, Gilbert; Bignon, Yves-Jean; Uhrhammer, Nancy; Lasset, Christine; Bonadona, Valérie; Hardouin, Agnès; Berthet, Pascaline; Sobol, Hagay; Bourdon, Violaine; Eisinger, Françoise; Coulet, Florence; Colas, Chrystelle; Soubrier, Florent; Coupier, Isabelle; Payrat, Jean-Philippe; Fournier, Joëlle; Révillion, Françoise; Vennin, Philippe; Adenis, Claude; Rouleau, Etienne; Lidereau, Rosette; Demange, Liliane; Nogues, Catherine; Muller, Danièle; Fricker, Jean-Pierre; Longy, Michel; Sevenet, Nicolas; Toulas, Christine; Guimbaud, Rosine; Gladieff, Laurence; Feillel, Viviane; Leroux, Dominique; Dreyfus, Hélèn; Rebischung, Christine; Cassini, Cécile; Olivier-Faivre, Laurence; Prieur, Fabienne; Ferrer, Sandra Fert; Frénay, Marc; Vénat-Bouvet, Laurence; Lynch, Henry T.; Hogervorst, Frans; Vernhoef, Senno; Pijpe, Anouk; van 't Veer, Laura; van Leeuwen, Flora; Rookus, Matti; Collée, Margriet; van den Ouweland, Ans; Kriege, Mieke; Schutte, Mieke; Hooning, Maartje; Seynaeve, Caroline; van Asperen, Christi; Wijnen, Juul; Vreeswijk, Maaike; Tollenaar, Rob; Devilee, Peter; Ligtenberg, Marjolijn; Hoogerbrugge, Nicoline; Ausems, Margreet; van der Luijt, Rob; Aalfs, Cora; van Os, Theo; Gille, Hans; Waisfisz, Quinten; Meijers-Heijboer, Hanne; Gomez-Garcia, Encarna; van Roozendaal, Kees; Blok, Marinus; Oosterwijk, Jan; van der Hout, Annemieke; Mourits, Marian; Vasen, Hans; Szabo, Csilla; Pohlreich, Petr; Kleibl, Zdenek; Machackova, Eva; Lukesova, Miroslava; de Leeneer, Kim; Poppe, Bruce; de Paepe, Anne

    2010-01-01

    Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs),

  3. Risk of iron overload in carriers of genetic mutations associated with hereditary haemochromatosis: UK Food Standards Agency workshop.

    Science.gov (United States)

    Singh, Mamta; Ashwell, Margaret; Sanderson, Peter; Cade, Janet; Moreton, Jennifer; Fairweather-Tait, Susan; Roe, Mark; Marx, Joannes J M; Worwood, Mark; Cook, James D

    2006-10-01

    The UK Food Standards Agency convened a group of expert scientists to review current research investigating diet and carriers of genetic mutations associated with hereditary haemochromatosis. The workshop concluded that individuals who are heterozygous for the C282Y mutation of the HFE gene do not appear to respond abnormally to dietary Fe and therefore do not need to change their diet to prevent accumulation of body Fe.

  4. Long-term episodic memory decline is associated with olfactory deficits only in carriers of ApoE-є4.

    Science.gov (United States)

    Olofsson, Jonas K; Josefsson, Maria; Ekström, Ingrid; Wilson, Donald; Nyberg, Lars; Nordin, Steven; Nordin Adolfsson, Annelie; Adolfsson, Rolf; Nilsson, Lars-Göran; Larsson, Maria

    2016-05-01

    The ɛ4 allele of the Apolipoprotein E gene is a genetic risk factor for late-onset dementia of the Alzheimers' type (DAT), which is characterized by loss of both episodic memory and olfactory functions. Little is known about the possible role of ɛ4 in the association between ongoing episodic memory decline and olfactory deficits in the general population, but such information is relevant in determining the relevance of olfaction as a marker of DAT risk. The present study was based on a large, population-based sample (n=1087, aged 45-90 years, of which 324 were ɛ4-carriers). Episodic memory change rates were established using data collected every 5 years for a 10-20 year interval leading up to an olfactory assessment using the Scandinavian Odor Identification Test at the last wave of data collection. Participants were classified according to whether or not their episodic memory ability declined more rapidly than the age-typical norm (by >1SD). Our main result is that only in ɛ4-carriers was episodic memory decline associated with odor identification impairment. In individuals without ɛ4, odor identification was unrelated to episodic memory decline status. Follow-up analyses indicated that this moderation by ɛ4 was due to the olfactory nature of the identification test, and that the effect was not caused by 63 individuals with dementia. Our results suggest that the ɛ4 determines the functional association between ongoing episodic memory decline and olfaction. These findings are consistent with the notion that ɛ4-carriers with DAT, compared to non-carriers, display a cortical atrophy pattern that is more focused on mediotemporal lobe regions supporting olfactory and episodic memory functions. Olfactory and memory assessments might provide complementary information on mediotemporal atrophy prior to clinical dementia onset, but the ɛ4 should be considered when using olfactory assessment as an early-stage indicator. Copyright © 2016. Published by Elsevier Ltd.

  5. 22q11.2 deletion carriers and schizophrenia-associated novel variants.

    Science.gov (United States)

    Balan, S; Iwayama, Y; Toyota, T; Toyoshima, M; Maekawa, M; Yoshikawa, T

    2014-01-01

    The penetrance of schizophrenia risk in carriers of the 22q11.2 deletion is high but incomplete, suggesting the possibility of additional genetic defects. We performed whole exome sequencing on two individuals with 22q11.2 deletion, one with schizophrenia and the other who was psychosis-free. The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). This study paves the way towards a more complete understanding of variant dose and genetic architecture in schizophrenia.

  6. Glutathione in Cellular Redox Homeostasis: Association with the Excitatory Amino Acid Carrier 1 (EAAC1

    Directory of Open Access Journals (Sweden)

    Koji Aoyama

    2015-05-01

    Full Text Available Reactive oxygen species (ROS are by-products of the cellular metabolism of oxygen consumption, produced mainly in the mitochondria. ROS are known to be highly reactive ions or free radicals containing oxygen that impair redox homeostasis and cellular functions, leading to cell death. Under physiological conditions, a variety of antioxidant systems scavenge ROS to maintain the intracellular redox homeostasis and normal cellular functions. This review focuses on the antioxidant system’s roles in maintaining redox homeostasis. Especially, glutathione (GSH is the most important thiol-containing molecule, as it functions as a redox buffer, antioxidant, and enzyme cofactor against oxidative stress. In the brain, dysfunction of GSH synthesis leading to GSH depletion exacerbates oxidative stress, which is linked to a pathogenesis of aging-related neurodegenerative diseases. Excitatory amino acid carrier 1 (EAAC1 plays a pivotal role in neuronal GSH synthesis. The regulatory mechanism of EAAC1 is also discussed.

  7. Use of liquid chromatography for separation and determination of carrier species associated with the synthesis of no carrier-added sup(11)C labelled compounds

    International Nuclear Information System (INIS)

    Emran, Ali M.; Boothe, Th.E.; Finn, R.D.; Vora, M.M.; Kothari, P.J.

    1985-01-01

    An analytical technique using reversed-phase liquid chromatography was developed for the determination of urea at quantities as low as 1 ng to quantitate the amount of non-labelled urea produced during the synthesis of no-carrier-added [sup(11)C] urea starting from sup(11)CNsup(-). As a result, the specific activity of the [sup(11)C] urea thus prepared was calculated to be as high as 3.5+-0.8 Ci/μmol. (author)

  8. Induction of the lac carrier and an associated membrane protein in Escherichia coli

    International Nuclear Information System (INIS)

    Lagarias, D.M.

    1985-01-01

    Induction of the lac operon in wild type Escherichia coli strains results in synthesis of a 16 kilodalton inner membrane protein in addition to the known products of the lacZ, lacY and lacA genes. Cells carrying the lacY gene on a plasmid over produce this 16 kilodalton polypeptide as well as the Lac carrier, the membrane protein product of the lacY gene. However, [ 35 S]methionine labeling of minicells carrying the lacY plasmid shows that the 16 kDa protein is not synthesized from the plasmid DNA. The 16 kDa protein was purified and partially characterized. It is an acidic membrane protein of apparent molecular weight 15,800 whose amino terminal sequence (NH 2 -Met-Arg-Asn-Phe-Asp-Leu-) does not correspond to any nucleotide sequence known in lac operon DNA. Using antibody prepared to the purified 16 kDa protein, a quantitative analysis of conditions under which this protein is made was accomplished, and reveals that the amount of 16 kDa protein which appears in the membrane is proportional to lac operon expression. Hybridization of a synthetic oligonucleotide probe complementary to the 5' end of 16 kDa protein mRNA shows that its synthesis is regulated at the level of transcription. A description of attempts to clone this gene is given. Possible functional roles for the 16 kDa protein are discussed

  9. HBsAg carrier status and the association between gestational diabetes with increased serum ferritin concentration in Chinese women.

    Science.gov (United States)

    Lao, Terence T; Tse, Ka-Yu; Chan, Louis Y; Tam, Kar-Fai; Ho, Lai-Fong

    2003-11-01

    To determine whether the high prevalence of hepatitis B surface antigen (HBsAg) carriage in our population can explain the previous observation of an association between increased maternal serum ferritin concentration and gestational diabetes in Hong Kong Chinese women. A retrospective study was performed on 767 nonanemic women with singleton pregnancy who had iron status assessed at 28-30 weeks. The result of the routine antenatal HBsAg screening was retrieved from patient records. The HBsAg-positive and -negative groups were compared for maternal characteristics, prevalence of gestational diabetes in the third trimester, prevalence of high serum ferritin and iron concentrations, and transferrin saturation, which is defined as a value in the highest quartile established by the measurements obtained from the HBsAg-negative group. The incidences of oral glucose tolerance test and gestational diabetes were significantly increased in the HBsAg-positive group. The HBsAg-positive women with gestational diabetes had significantly increased prevalence of high serum ferritin compared with the HBsAg-negative women, irrespective of the latter's gestational diabetes status. Multiple logistic regression analysis confirmed the independent association between HBsAg carrier status with gestational diabetes (relative risk 3.51, 95% CI 1.83-6.73) but excluded high ferritin as an independent factor. Our results indicate that maternal HBsAg carriage could explain in part the association between increased serum ferritin concentration with gestational diabetes in Hong Kong Chinese women, and that HBsAg carrier status is an independent risk factor for gestational diabetes.

  10. Safety of American Heart Association-recommended minimum exercise for desmosomal mutation carriers

    NARCIS (Netherlands)

    Sawant, Abhishek C; Te Riele, Anneline S J M; Tichnell, Crystal; Murray, Brittney; Bhonsale, Aditya; Tandri, Harikrishna; Judge, Daniel P; Calkins, Hugh; James, Cynthia A

    BACKGROUND: Endurance exercise is associated with adverse outcomes in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Exercise recommendations for family members remain undetermined. OBJECTIVE: The purposes of this study were to determine if (1) endurance exercise

  11. Genotype-phenotype associations in filaggrin loss-of-function mutation carriers

    NARCIS (Netherlands)

    Landeck, Lilla; Visser, Maaike; Kezic, Sanja; John, Swen M.

    2013-01-01

    Loss-of-function mutations in the filaggrin gene (FLG) have been reported to be associated with specific phenotypic characteristics such as hyperlinearity and keratosis pilaris. To study phenotypic features in patients with occupational irritant contact eczema of the hands in relation to FLG

  12. Novel self-associative and multiphase nanostructured soft carriers based on amphiphilic hyaluronic acid derivatives

    DEFF Research Database (Denmark)

    Eenschooten, Corinne; Vaccaro, Andrea; Delie, Florence

    2012-01-01

    The purpose of the present study was to investigate the physicochemical properties in aqueous media of amphiphilic hyaluronic acid (HA) derivatives obtained by reaction of HA’s hydroxyl groups with octenyl succinic anhydride (OSA). The self-associative properties of the resulting octenyl succinic...

  13. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

    Directory of Open Access Journals (Sweden)

    Ignacio Blanco

    Full Text Available While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR = 1.10, 95% confidence interval (CI 1.04-1.15, p = 1.9 x 10(-4 (false discovery rate (FDR-adjusted p = 0.043. Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03-1.16, p = 0.005 (FDR-adjusted p = 0.045. Assessment of pairwise interactions provided suggestions (FDR-adjusted pinteraction values > 0.05 for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients' survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers.

  14. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

    Directory of Open Access Journals (Sweden)

    Ana Osorio

    2014-04-01

    Full Text Available Single Nucleotide Polymorphisms (SNPs in genes involved in the DNA Base Excision Repair (BER pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase, and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2. Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2 gene (HR: 1.09, 95% CI (1.03-1.16, p = 2.7 × 10(-3 for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3. DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.

  15. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    OpenAIRE

    Andrulis, IL; Mulligan, AM; Schmutzler, RK; Barrowdale, D; McGuffog, L; Robson, M; Schmidt, MK; Spurdle, AB; Neuhausen, SL; Kuchenbaecker, KB

    2014-01-01

    Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRC...

  16. Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

    DEFF Research Database (Denmark)

    Blanco, Ignacio; Kuchenbaecker, Karoline; Cuadras, Daniel

    2015-01-01

    While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between ...

  17. Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

    NARCIS (Netherlands)

    Blanco, Ignacio; Kuchenbaecker, Karoline; Cuadras, Daniel; Wang, Xianshu; Barrowdale, Daniel; Ruiz de Garibay, Gorka; Librado, Pablo; Sanchez-Gracia, Alejandro; Rozas, Julio; Bonifaci, Nuria; McGuffog, Lesley; Pankratz, Vernon S.; Islam, Abul; Mateo, Francesca; Berenguer, Antoni; Petit, Anna; Catala, Isabel; Brunet, Joan; Feliubadalo, Lidia; Tornero, Eva; Benitez, Javier; Osorio, Ana; Cajal, Teresa Ramon Y.; Nevanlinna, Heli; Aittomaki, Kristiina; Arun, Banu K.; Toland, Amanda E.; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; Greene, Mark H.; Mai, Phuong L.; Nussbaum, Robert L.; Andrulis, Irene L.; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy R.; Barkardottir, Rosa B.; Jakubowska, Anna; Lubinski, Jan; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Claes, Kathleen; Van Maerken, Tom; Diez, Orland; Hansen, Thomas V.; Jonson, Lars; Gerdes, Anne-Marie; Ejlertsen, Bent; de la Hoya, Miguel; Caldes, Trinidad; Dunning, Alison M.; Oliver, Clare; Fineberg, Elena; Cook, Margaret; Peock, Susan; McCann, Emma; Murray, Alex; Jacobs, Chris; Pichert, Gabriella; Lalloo, Fiona; Chu, Carol; Dorkins, Huw; Paterson, Joan; Ong, Kai-Ren; Teixeira, Manuel R.; Teixeira, M.R.; Hogervorst, Frans B. L.; van der Hout, Annemarie H.; Seynaeve, Caroline; van der Luijt, Rob B.; Ligtenberg, Marjolijn J. L.; Devilee, Peter; Wijnen, Juul T.; Rookus, Matti A.; Meijers-Heijboer, Hanne E. J.; Blok, Marinus J.; van den Ouweland, Ans M. W.; Aalfs, Cora M.; Rodriguez, Gustavo C.; Phillips, Kelly-Anne A.; Piedmonte, Marion; Nerenstone, Stacy R.; Bae-Jump, Victoria L.; O'Malley, David M.; Ratner, Elena S.; Schmutzler, Rita K.; Wappenschmidt, Barbara; Rhiem, Kerstin; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Plendl, Hansjoerg J.; Niederacher, Dieter; Sutter, Christian; Wang-Gohrke, Shan; Steinemann, Doris; Preisler-Adams, Sabine; Kast, Karin; Varon-Mateeva, Raymonda; Gehrig, Andrea; Bojesen, Anders; Pedersen, Inge Sokilde; Sunde, Lone; Jensen, Uffe Birk; Thomassen, Mads; Kruse, Torben A.; Foretova, Lenka; Peterlongo, Paolo; Bernard, Loris; Peissel, Bernard; Scuvera, Giulietta; Manoukian, Siranoush; Radice, Paolo; Ottini, Laura; Montagna, Marco; Agata, Simona; Maugard, Christine; Simard, Jacques; Soucy, Penny; Berger, Andreas; Fink-Retter, Anneliese; Singer, Christian F.; Rappaport, Christine; Geschwantler-Kaulich, Daphne; Tea, Muy-Kheng; Pfeiler, Georg; John, Esther M.; Miron, Alex; Neuhausen, Susan L.; Terry, Mary Beth; Chung, Wendy K.; Daly, Mary B.; Goldgar, David E.; Janavicius, Ramunas; Dorfling, Cecilia M.; van Rensburg, Elisabeth J.; Fostira, Florentia; Konstantopoulou, Irene; Garber, Judy; Godwin, Andrew K.; Olah, Edith; Narod, Steven A.; Rennert, Gad; Paluch, Shani Shimon; Laitman, Yael; Friedman, Eitan; Liljegren, Annelie; Rantala, Johanna; Stenmark-Askmalm, Marie; Loman, Niklas; Imyanitov, Evgeny N.; Hamann, Ute; Spurdle, Amanda B.; Healey, Sue; Weitzel, Jeffrey N.; Herzog, Josef; Margileth, David; Gorrini, Chiara; Esteller, Manel; Gomez, Antonio; Sayols, Sergi; Vidal, Enrique; Heyn, Holger; Stoppa-Lyonnet, Dominique; Leone, Melanie; Barjhoux, Laure; Fassy-Colcombet, Marion; de Pauw, Antoine; Lasset, Christine; Ferrer, Sandra Fert; Castera, Laurent; Berthet, Pascaline; Cornelis, Francois; Bignon, Yves-Jean; Damiola, Francesca; Mazoyer, Sylvie; Sinilnikova, Olga M.; Maxwell, Christopher A.; Vijai, Joseph; Robson, Mark; Kauff, Noah; Corines, Marina J.; Villano, Danylko; Cunningham, Julie; Lee, Adam; Lindor, Noralane; Lazaro, Conxi; Easton, Douglas F.; Offit, Kenneth; Chenevix-Trench, Georgia; Couch, Fergus J.; Antoniou, Antonis C.; Angel Pujana, Miguel

    2015-01-01

    While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the

  18. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    DEFF Research Database (Denmark)

    Osorio, Ana; Milne, Roger L; Kuchenbaecker, Karoline

    2014-01-01

    Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of th...

  19. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    NARCIS (Netherlands)

    A. Osorio (Ana); R.L. Milne (Roger); K.B. Kuchenbaecker (Karoline); T. Vaclová (Tereza); G. Pita (Guillermo); R. Alonso (Rosario); P. Peterlongo (Paolo); I. Blanco (Ignacio); M. de La Hoya (Miguel); M. Durán (Mercedes); O. Díez (Orland); T. Ramon Y Cajal; I. Konstantopoulou (I.); C. Martínez-Bouzas (Cristina); R. Andrés Conejero (Raquel); P. Soucy (Penny); L. McGuffog (Lesley); D. Barrowdale (Daniel); A. Lee (Andrew); B. Arver (Brita Wasteson); J. Rantala (Johanna); N. Loman (Niklas); H. Ehrencrona (Hans); O.I. Olopade (Olofunmilayo); M.S. Beattie (Mary); S.M. Domchek (Susan); K.L. Nathanson (Katherine); R. Rebbeck (Timothy); B.K. Arun (Banu); B.Y. Karlan (Beth); C.S. Walsh (Christine); K.J. Lester (Kathryn); E.M. John (Esther); A.S. Whittemore (Alice); M.B. Daly (Mary); M.C. Southey (Melissa); J.L. Hopper (John); M.-B. Terry (Mary-Beth); S.S. Buys (Saundra); R. Janavicius (Ramunas); C.M. Dorfling (Cecilia); E.J. van Rensburg (Elizabeth); L. Steele (Linda); S.L. Neuhausen (Susan); Y.C. Ding (Yuan); T.V.O. Hansen (Thomas); L. Jønson (Lars); B. Ejlertsen (Bent); A-M. Gerdes (Anne-Marie); J. Infante (Jon); B. Herráez (Belén); L.T. Moreno (Leticia Thais); J.N. Weitzel (Jeffrey); J. Herzog (Josef); K. Weeman (Kisa); S. Manoukian (Siranoush); B. Peissel (Bernard); D. Zaffaroni (D.); G. Scuvera (Giulietta); B. Bonnani (Bernardo); F. Mariette (F.); S. Volorio (Sara); A. Viel (Alessandra); L. Varesco (Liliana); L. Papi (Laura); L. Ottini (Laura); M.G. Tibiletti (Maria Grazia); P. Radice (Paolo); D. Yannoukakos (Drakoulis); J. Garber; S.D. Ellis (Steve); D. Frost (Debra); R. Platte (Radka); E. Fineberg (Elena); D.G. Evans (Gareth); F. Lalloo (Fiona); L. Izatt (Louise); R. Eeles (Rosalind); J.W. Adlard (Julian); R. Davidson (Rosemarie); T.J. Cole (Trevor); D. Eccles (Diana); J. Cook (Jackie); S.V. Hodgson (Shirley); C. Brewer (Carole); M. Tischkowitz (Marc); F. Douglas (Fiona); M.E. Porteous (Mary); L. Side (Lucy); L.J. Walker (Lisa); P.J. Morrison (Patrick); A. Donaldson (Alan); J. Kennedy (John); C. Foo (Claire); A.K. Godwin (Andrew); R.K. Schmutzler (Rita); B. Wapenschmidt (Barbara); K. Rhiem (Kerstin); C.W. Engel (Christoph); A. Meindl (Alfons); N. Ditsch (Nina); N. Arnold (Norbert); H. Plendl (Hansjoerg); D. Niederacher (Dieter); C. Sutter (Christian); S. Wang-Gohrke (Shan); D. Steinemann (Doris); S. Preisler-Adams (Sabine); K. Kast (Karin); R. Varon-Mateeva (Raymonda); P.A. Gehrig (Paola A.); D. Stoppa-Lyonnet (Dominique); O. Sinilnikova (Olga); S. Mazoyer (Sylvie); F. Damiola (Francesca); B. Poppe (Bruce); K. Claes (Kathleen); M. Piedmonte (Marion); K. Tucker (Kathryn); F.J. Backes (Floor); P.M. Rodríguez; W. Brewster (Wendy); K. Wakeley (Katie); T. Rutherford (Thomas); T. Caldes (Trinidad); H. Nevanlinna (Heli); K. Aittomäki (Kristiina); M.A. Rookus (Matti); T.A.M. van Os (Theo); L. van der Kolk (Lizet); J.L. de Lange (J.); E.J. Meijers-Heijboer (Hanne); A.H. van der Hout (Annemarie); C.J. van Asperen (Christi); E.B. Gómez García (Encarna); N. Hoogerbrugge (Nicoline); J.M. Collée (Margriet); C.H.M. van Deurzen (Carolien); R.B. van der Luijt (Rob); P. Devilee (Peter); E. Olah (Edith); C. Lazaro (Conxi); A. Teulé (A.); M. Menéndez (Mireia); A. Jakubowska (Anna); C. Cybulski (Cezary); J. Gronwald (Jacek); J. Lubinski (Jan); K. Durda (Katarzyna); K. Jaworska-Bieniek (Katarzyna); O.T. Johannson (Oskar); C. Maugard; M. Montagna (Marco); S. Tognazzo (Silvia); P.J. Teixeira; S. Healey (Sue); C. Olswold (Curtis); L. Guidugli (Lucia); N.M. Lindor (Noralane); S. Slager (Susan); C. Szabo (Csilla); J. Vijai (Joseph); M. Robson (Mark); N. Kauff (Noah); L. Zhang (Lingling); R. Rau-Murthy (Rohini); A. Fink-Retter (Anneliese); C.F. Singer (Christian); C. Rappaport (Christine); D. Geschwantler Kaulich (Daphne); G. Pfeiler (Georg); M.-K. Tea; A. Berger (Annemarie); C. Phelan (Catherine); M.H. Greene (Mark); P.L. Mai (Phuong); F. Lejbkowicz (Flavio); I.L. Andrulis (Irene); A.M. Mulligan (Anna Marie); G. Glendon (Gord); A.E. Toland (Amanda); S.E. Bojesen (Stig); I.S. Pedersen (Inge Sokilde); L. Sunde (Lone); M. Thomassen (Mads); T.A. Kruse (Torben); U.B. Jensen; E. Friedman (Eitan); Y. Laitman (Yael); S.P. Shimon (Shani Paluch); J. Simard (Jacques); D.F. Easton (Douglas); K. Offit (Kenneth); F.J. Couch (Fergus); G. Chenevix-Trench (Georgia); A.C. Antoniou (Antonis); J. Benítez (Javier)

    2014-01-01

    textabstractSingle Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between

  20. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

    NARCIS (Netherlands)

    Osorio, A.; Milne, R.L.; Kuchenbaecker, K.; Vaclova, T.; Pita, G.; Alonso, R.; Peterlongo, P.; Blanco, I.; Hoya, M. de la; Duran, M.; Diez, O.; Ramon, Y.C.T.; Konstantopoulou, I.; Martinez-Bouzas, C.; Conejero, R. Andres; Soucy, P.; McGuffog, L.; Barrowdale, D.; Lee, A.; Swe, B.; Arver, B.; Rantala, J.; Loman, N.; Ehrencrona, H.; Olopade, O.I.; Beattie, M.S.; Domchek, S.M.; Nathanson, K.; Rebbeck, T.R.; Arun, B.K.; Karlan, B.Y.; Walsh, C.; Lester, J.; John, E.M.; Whittemore, A.S.; Daly, M.B.; Southey, M.; Hopper, J.; Terry, M.B.; Buys, S.S.; Janavicius, R.; Dorfling, C.M.; Rensburg, E.J. van; Steele, L.; Neuhausen, S.L.; Ding, Y.C.; Hansen, T.V.; Jonson, L.; Ejlertsen, B.; Gerdes, A.M.; Infante, M.; Herraez, B.; Moreno, L.T.; Weitzel, J.N.; Herzog, J.; Weeman, K.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Bonanni, B.; Mariette, F.; Volorio, S.; Viel, A.; Varesco, L.; Papi, L.; Ottini, L.; Tibiletti, M.G.; Radice, P.; Yannoukakos, D.; Garber, J.; Ellis, S.; Frost, D.; Platte, R.; Fineberg, E.; Evans, G.; Lalloo, F.; Izatt, L.; Eeles, R.; Adlard, J.; Davidson, R.; Cole, T.; Eccles, D.; Cook, J; Hodgson, S.; Brewer, C.; Tischkowitz, M.; Douglas, F.; Porteous, M.; Side, L.; Walker, L.; Morrison, P.; Donaldson, A.; Kennedy, J.; Foo, C.; Godwin, A.K.; Schmutzler, R.K.; Wappenschmidt, B.; Rhiem, K.; Engel, C.; Hoogerbrugge-van der Linden, N.; et al.,

    2014-01-01

    Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the

  1. Radionuclide carrier

    International Nuclear Information System (INIS)

    Hartman, F.A.; Kretschmar, H.C.; Tofe, A.J.

    1978-01-01

    A physiologically acceptable particulate radionuclide carrier is described. It comprises a modified anionic starch derivative with 0.1% to 1.5% by weight of a reducing agent and 1 to 20% by weight of anionic substituents

  2. Carrier Screening

    Science.gov (United States)

    ... How accurate is carrier screening? No test is perfect. In a small number of cases, test results ... in which an egg is removed from a woman’s ovary, fertilized in a laboratory with the man’s ...

  3. Association of the solute carrier family 11 member 1 gene polymorphisms with susceptibility to leprosy in a Brazilian sample

    Directory of Open Access Journals (Sweden)

    Maria José Franco Brochado

    2016-02-01

    Full Text Available Natural resistance-associated macrophage protein 1/solute carrier family 11 member 1 gene (Nramp1/Slc11a1 is a gene that controls the susceptibility of inbred mice to intracellular pathogens. Polymorphisms in the human Slc11a1/Nramp1 gene have been associated with host susceptibility to leprosy. This study has evaluated nine polymorphisms of the Slc11a1/Nramp1 gene [(GTn, 274C/T, 469+14G/C, 577-18G/A, 823C/T, 1029 C/T, 1465-85G/A, 1703G/A, and 1729+55del4] in 86 leprosy patients (67 and 19 patients had the multibacillary and the paucibacillary clinical forms of the disease, respectively, and 239 healthy controls matched by age, gender, and ethnicity. The frequency of allele 2 of the (GTn polymorphism was higher in leprosy patients [p = 0.04, odds ratio (OR = 1.49], whereas the frequency of allele 3 was higher in the control group (p = 0.03; OR = 0.66. Patients carrying the 274T allele (p = 0.04; OR = 1.49 and TT homozygosis (p = 0.02; OR = 2.46, such as the 469+14C allele (p = 0.03; OR = 1.53 of the 274C/T and 469+14G/C polymorphisms, respectively, were more frequent in the leprosy group. The leprosy and control groups had similar frequency of the 577-18G/A, 823C/T, 1029C/T, 1465-85G/A, 1703G/A, and 1729+55del4 polymorphisms. The 274C/T polymorphism in exon 3 and the 469+14G/C polymorphism in intron 4 were associated with susceptibility to leprosy, while the allele 2 and 3 of the (GTn polymorphism in the promoter region were associated with susceptibility and protection to leprosy, respectively.

  4. Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

    Science.gov (United States)

    O'Keefe, Joan A; Robertson-Dick, Erin; Dunn, Emily J; Li, Yan; Deng, Youping; Fiutko, Amber N; Berry-Kravis, Elizabeth; Hall, Deborah A

    2015-12-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a "premutation" size 55-200 CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Core motor features include cerebellar gait ataxia and kinetic tremor, resulting in progressive mobility disability. There are no published studies characterizing balance deficits in FMR1 premutation carriers with and without FXTAS using a battery of quantitative measures to test the sensory integration underlying postural control, automatic postural reflexes, and dynamic postural stability limits. Computerized dynamic posturography (CDP) and two performance-based balance measures were administered in 44 premutation carriers, 21 with FXTAS and 23 without FXTAS, and 42 healthy controls to compare balance and functional mobility between these groups. Relationships between FMR1 molecular variables, age, and sex and CDP scores were explored. FXTAS subjects demonstrated significantly lower scores on the sensory organization test (with greatest reductions in the vestibular control of balance), longer response latencies to balance perturbations, and reduced stability limits compared to controls. Premutation carriers without FXTAS also demonstrated significantly delayed response latencies and disrupted sensory weighting for balance control. Advancing age, male sex, increased CGG repeat size, and reduced X activation of the normal allele in premutation carrier women predicted balance dysfunction. These postural control deficits in carriers with and without FXTAS implicate dysfunctional cerebellar neural networks and may provide valuable outcome markers for tailored rehabilitative interventions. Our findings suggest that CDP may provide sensitive measures for early detection of postural control impairments in at-risk carriers and better characterize balance dysfunction and progression in FXTAS.

  5. Comparison of HTLV-I Proviral Load in Adult T Cell Leukemia/Lymphoma (ATL), HTLV-I-Associated Myelopathy (HAM-TSP) and Healthy Carriers.

    Science.gov (United States)

    Akbarin, Mohammad Mehdi; Rahimi, Hossein; Hassannia, Tahereh; Shoja Razavi, Ghazaleh; Sabet, Faezeh; Shirdel, Abbas

    2013-03-01

    Human T Lymphocyte Virus Type one (HTLV-I) is a retrovirus that infects about 10-20 million people worldwide. Khorasan province in Iran is an endemic area. The majority of HTLV-I-infected individuals sustain healthy carriers but small proportion of infected population developed two progressive diseases: HAM/TSP and ATL. The proviral load could be a virological marker for disease monitoring, therefore in the present study HTLV-I proviral load has been evaluated in ATL and compared to HAM/TSP and healthy carriers. In this case series study, 47 HTLV-I infected individuals including 13 ATL, 23 HAM/TSP and 11 asymptomatic subjects were studied. Peripheral blood mononuclear cells (PBMCs) were investigated for presence of HTLV-I DNA provirus by PCR using LTR and Tax fragments. Then in infected subjects, HTLV-I proviral load was measured using real time PCR TaqMan method. The average age of patients in ATL was 52±8, in HAM/TSP 45.52±15.17 and in carrier's 38.65±14.9 years which differences were not statistically significant. The analysis of data showed a significant difference in mean WBC among study groups (ATL vs HAM/TSP and carriers P=0.0001). Moreover, mean HTLV-I proviral load was 11967.2 ± 5078, 409 ± 71.3 and 373.6 ± 143.3 in ATL, HAM/TSP and Healthy Carriers, respectively. The highest HTLV-I proviral load was measured in ATL group that had a significant correlation with WBC count (R=0.495, P=0.001). The proviral load variations between study groups was strongly significant (ATL vs carrier P=0.0001; ATL vs HAM/TSP P= 0.0001 and HAM/TSP vs carriers P< 0.05). Conclusion : The present study demonstrated that HTLV-I proviral load was higher in ATL group in comparison with HAM/TSP and healthy carriers. Therefore, HTLV-I proviral load is a prognostic factor for development of HTLV-I associated diseases and can be used as a monitoring marker for the efficiency of therapeutic regime.

  6. Hole traps associated with high-concentration residual carriers in p-type GaAsN grown by chemical beam epitaxy

    Energy Technology Data Exchange (ETDEWEB)

    Elleuch, Omar, E-mail: mr.omar.elleuch@gmail.com; Wang, Li; Lee, Kan-Hua; Demizu, Koshiro; Ikeda, Kazuma; Kojima, Nobuaki; Ohshita, Yoshio; Yamaguchi, Masafumi [Toyota Technological Institute, 2-12-1 Hisakata, Tempaku, Nagoya 468-8511 (Japan)

    2015-01-28

    The hole traps associated with high background doping in p-type GaAsN grown by chemical beam epitaxy are studied based on the changes of carrier concentration, junction capacitance, and hole traps properties due to the annealing. The carrier concentration was increased dramatically with annealing time, based on capacitance–voltage (C–V) measurement. In addition, the temperature dependence of the junction capacitance (C–T) was increased rapidly two times. Such behavior is explained by the thermal ionization of two acceptor states. These acceptors are the main cause of high background doping in the film, since the estimated carrier concentration from C–T results explains the measured carrier concentration at room temperature using C–V method. The acceptor states became shallower after annealing, and hence their structures are thermally unstable. Deep level transient spectroscopy (DLTS) showed that the HC2 hole trap was composed of two signals, labeled HC21 and HC22. These defects correspond to the acceptor levels, as their energy levels obtained from DLTS are similar to those deduced from C–T. The capture cross sections of HC21 and HC22 are larger than those of single acceptors. In addition, their energy levels and capture cross sections change in the same way due to the annealing. This tendency suggests that HC21 and HC22 signals originate from the same defect which acts as a double acceptor.

  7. Hole traps associated with high-concentration residual carriers in p-type GaAsN grown by chemical beam epitaxy

    International Nuclear Information System (INIS)

    Elleuch, Omar; Wang, Li; Lee, Kan-Hua; Demizu, Koshiro; Ikeda, Kazuma; Kojima, Nobuaki; Ohshita, Yoshio; Yamaguchi, Masafumi

    2015-01-01

    The hole traps associated with high background doping in p-type GaAsN grown by chemical beam epitaxy are studied based on the changes of carrier concentration, junction capacitance, and hole traps properties due to the annealing. The carrier concentration was increased dramatically with annealing time, based on capacitance–voltage (C–V) measurement. In addition, the temperature dependence of the junction capacitance (C–T) was increased rapidly two times. Such behavior is explained by the thermal ionization of two acceptor states. These acceptors are the main cause of high background doping in the film, since the estimated carrier concentration from C–T results explains the measured carrier concentration at room temperature using C–V method. The acceptor states became shallower after annealing, and hence their structures are thermally unstable. Deep level transient spectroscopy (DLTS) showed that the HC2 hole trap was composed of two signals, labeled HC21 and HC22. These defects correspond to the acceptor levels, as their energy levels obtained from DLTS are similar to those deduced from C–T. The capture cross sections of HC21 and HC22 are larger than those of single acceptors. In addition, their energy levels and capture cross sections change in the same way due to the annealing. This tendency suggests that HC21 and HC22 signals originate from the same defect which acts as a double acceptor

  8. Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.

    Science.gov (United States)

    Ghorbanoghli, Z; Nieuwenhuis, M H; Houwing-Duistermaat, J J; Jagmohan-Changur, S; Hes, F J; Tops, C M; Wagner, A; Aalfs, C M; Verhoef, S; Gómez García, E B; Sijmons, R H; Menko, F H; Letteboer, T G; Hoogerbrugge, N; van Wezel, T; Vasen, H F A; Wijnen, J T

    2016-10-01

    Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk of developing colorectal cancer (CRC). The severity of polyposis is correlated with the site of the APC mutation. However, there is also phenotypic variability within families with the same underlying APC mutation, suggesting that additional factors influence the severity of polyposis. Genome-wide association studies identified several single nucleotide polymorphisms (SNPs) that are associated with CRC. We assessed whether these SNPs are associated with polyp multiplicity in proven APC mutation carriers. Sixteen CRC-associated SNPs were analysed in a cohort of 419 APC germline mutation carriers from 182 families. Clinical data were retrieved from the Dutch Polyposis Registry. Allele frequencies of the SNPs were compared for patients with APC genotype as a covariate. We found a trend of association of two of the tested SNPs with the ≥100 adenoma phenotype: the C alleles of rs16892766 at 8q23.3 (OR 1.71, 95 % CI 1.05-2.76, p = 0.03, dominant model) and rs3802842 at 11q23.1 (OR 1.51, 95 % CI 1.03-2.22, p = 0.04, dominant model). We identified two risk variants that are associated with a more severe phenotype in APC mutation carriers. These risk variants may partly explain the phenotypic variability in families with the same APC gene defect. Further studies with a larger sample size are recommended to evaluate and confirm the phenotypic effect of these SNPs in FAP.

  9. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

    Science.gov (United States)

    Boczonadi, Veronika; King, Martin S; Smith, Anthony C; Olahova, Monika; Bansagi, Boglarka; Roos, Andreas; Eyassu, Filmon; Borchers, Christoph; Ramesh, Venkateswaran; Lochmüller, Hanns; Polvikoski, Tuomo; Whittaker, Roger G; Pyle, Angela; Griffin, Helen; Taylor, Robert W; Chinnery, Patrick F; Robinson, Alan J; Kunji, Edmund R S; Horvath, Rita

    2018-03-08

    PurposeTo understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease.MethodsWe identified a novel pathogenic variant in a patient by whole-exome sequencing. The pathogenicity of the mutation was studied by transport assays, computer modeling, followed by targeted metabolic testing and in vitro studies in human fibroblasts and neurons.ResultsThe patient carries a homozygous pathogenic variant c.695A>G; p.(Lys232Arg) in the SLC25A21 gene, encoding the mitochondrial oxodicarboxylate carrier, and developed spinal muscular atrophy and mitochondrial myopathy. Transport assays show that the mutation renders SLC25A21 dysfunctional and 2-oxoadipate cannot be imported into the mitochondrial matrix. Computer models of central metabolism predicted that impaired transport of oxodicarboxylate disrupts the pathways of lysine and tryptophan degradation, and causes accumulation of 2-oxoadipate, pipecolic acid, and quinolinic acid, which was confirmed in the patient's urine by targeted metabolomics. Exposure to 2-oxoadipate and quinolinic acid decreased the level of mitochondrial complexes in neuronal cells (SH-SY5Y) and induced apoptosis.ConclusionMitochondrial oxodicarboxylate carrier deficiency leads to mitochondrial dysfunction and the accumulation of oxoadipate and quinolinic acid, which in turn cause toxicity in spinal motor neurons leading to spinal muscular atrophy-like disease.GENETICS in MEDICINE advance online publication, 8 March 2018; doi:10.1038/gim.2017.251.

  10. Aircraft Carriers

    DEFF Research Database (Denmark)

    Nødskov, Kim; Kværnø, Ole

    as their purchases of aircraft carrier systems, makes it more than likely that the country is preparing such an acquisition. China has territorial disputes in the South China Sea over the Spratly Islands and is also worried about the security of its sea lines of communications, by which China transports the majority......, submarines, aircraft and helicopters, is not likely to be fully operational and war-capable until 2020, given the fact that China is starting from a clean sheet of paper. The United States of America (USA), the United Kingdom (UK), Russia and India are currently building or have made decisions to build new...

  11. Viral Transmission Dynamics at Single-Cell Resolution Reveal Transiently Immune Subpopulations Caused by a Carrier State Association.

    Directory of Open Access Journals (Sweden)

    William Cenens

    2015-12-01

    Full Text Available Monitoring the complex transmission dynamics of a bacterial virus (temperate phage P22 throughout a population of its host (Salmonella Typhimurium at single cell resolution revealed the unexpected existence of a transiently immune subpopulation of host cells that emerged from peculiarities preceding the process of lysogenization. More specifically, an infection event ultimately leading to a lysogen first yielded a phage carrier cell harboring a polarly tethered P22 episome. Upon subsequent division, the daughter cell inheriting this episome became lysogenized by an integration event yielding a prophage, while the other daughter cell became P22-free. However, since the phage carrier cell was shown to overproduce immunity factors that are cytoplasmically inherited by the P22-free daughter cell and further passed down to its siblings, a transiently resistant subpopulation was generated that upon dilution of these immunity factors again became susceptible to P22 infection. The iterative emergence and infection of transiently resistant subpopulations suggests a new bet-hedging strategy by which viruses could manage to sustain both vertical and horizontal transmission routes throughout an infected population without compromising a stable co-existence with their host.

  12. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

    Science.gov (United States)

    Blein, Sophie; Bardel, Claire; Danjean, Vincent; McGuffog, Lesley; Healey, Sue; Barrowdale, Daniel; Lee, Andrew; Dennis, Joe; Kuchenbaecker, Karoline B; Soucy, Penny; Terry, Mary Beth; Chung, Wendy K; Goldgar, David E; Buys, Saundra S; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia M; van Rensburg, Elizabeth J; Neuhausen, Susan L; Ding, Yuan Chun; Gerdes, Anne-Marie; Ejlertsen, Bent; Nielsen, Finn C; Hansen, Thomas Vo; Osorio, Ana; Benitez, Javier; Conejero, Raquel Andrés; Segota, Ena; Weitzel, Jeffrey N; Thelander, Margo; Peterlongo, Paolo; Radice, Paolo; Pensotti, Valeria; Dolcetti, Riccardo; Bonanni, Bernardo; Peissel, Bernard; Zaffaroni, Daniela; Scuvera, Giulietta; Manoukian, Siranoush; Varesco, Liliana; Capone, Gabriele L; Papi, Laura; Ottini, Laura; Yannoukakos, Drakoulis; Konstantopoulou, Irene; Garber, Judy; Hamann, Ute; Donaldson, Alan; Brady, Angela; Brewer, Carole; Foo, Claire; Evans, D Gareth; Frost, Debra; Eccles, Diana; Douglas, Fiona; Cook, Jackie; Adlard, Julian; Barwell, Julian; Walker, Lisa; Izatt, Louise; Side, Lucy E; Kennedy, M John; Tischkowitz, Marc; Rogers, Mark T; Porteous, Mary E; Morrison, Patrick J; Platte, Radka; Eeles, Ros; Davidson, Rosemarie; Hodgson, Shirley; Cole, Trevor; Godwin, Andrew K; Isaacs, Claudine; Claes, Kathleen; De Leeneer, Kim; Meindl, Alfons; Gehrig, Andrea; Wappenschmidt, Barbara; Sutter, Christian; Engel, Christoph; Niederacher, Dieter; Steinemann, Doris; Plendl, Hansjoerg; Kast, Karin; Rhiem, Kerstin; Ditsch, Nina; Arnold, Norbert; Varon-Mateeva, Raymonda; Schmutzler, Rita K; Preisler-Adams, Sabine; Markov, Nadja Bogdanova; Wang-Gohrke, Shan; de Pauw, Antoine; Lefol, Cédrick; Lasset, Christine; Leroux, Dominique; Rouleau, Etienne; Damiola, Francesca; Dreyfus, Hélène; Barjhoux, Laure; Golmard, Lisa; Uhrhammer, Nancy; Bonadona, Valérie; Sornin, Valérie; Bignon, Yves-Jean; Carter, Jonathan; Van Le, Linda; Piedmonte, Marion; DiSilvestro, Paul A; de la Hoya, Miguel; Caldes, Trinidad; Nevanlinna, Heli; Aittomäki, Kristiina; Jager, Agnes; van den Ouweland, Ans Mw; Kets, Carolien M; Aalfs, Cora M; van Leeuwen, Flora E; Hogervorst, Frans Bl; Meijers-Heijboer, Hanne Ej; Oosterwijk, Jan C; van Roozendaal, Kees Ep; Rookus, Matti A; Devilee, Peter; van der Luijt, Rob B; Olah, Edith; Diez, Orland; Teulé, Alex; Lazaro, Conxi; Blanco, Ignacio; Del Valle, Jesús; Jakubowska, Anna; Sukiennicki, Grzegorz; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Agnarsson, Bjarni A; Maugard, Christine; Amadori, Alberto; Montagna, Marco; Teixeira, Manuel R; Spurdle, Amanda B; Foulkes, William; Olswold, Curtis; Lindor, Noralane M; Pankratz, Vernon S; Szabo, Csilla I; Lincoln, Anne; Jacobs, Lauren; Corines, Marina; Robson, Mark; Vijai, Joseph; Berger, Andreas; Fink-Retter, Anneliese; Singer, Christian F; Rappaport, Christine; Kaulich, Daphne Geschwantler; Pfeiler, Georg; Tea, Muy-Kheng; Greene, Mark H; Mai, Phuong L; Rennert, Gad; Imyanitov, Evgeny N; Mulligan, Anna Marie; Glendon, Gord; Andrulis, Irene L; Tchatchou, Sandrine; Toland, Amanda Ewart; Pedersen, Inge Sokilde; Thomassen, Mads; Kruse, Torben A; Jensen, Uffe Birk; Caligo, Maria A; Friedman, Eitan; Zidan, Jamal; Laitman, Yael; Lindblom, Annika; Melin, Beatrice; Arver, Brita; Loman, Niklas; Rosenquist, Richard; Olopade, Olufunmilayo I; Nussbaum, Robert L; Ramus, Susan J; Nathanson, Katherine L; Domchek, Susan M; Rebbeck, Timothy R; Arun, Banu K; Mitchell, Gillian; Karlan, Beth Y; Lester, Jenny; Orsulic, Sandra; Stoppa-Lyonnet, Dominique; Thomas, Gilles; Simard, Jacques; Couch, Fergus J; Offit, Kenneth; Easton, Douglas F; Chenevix-Trench, Georgia; Antoniou, Antonis C; Mazoyer, Sylvie; Phelan, Catherine M; Sinilnikova, Olga M; Cox, David G

    2015-04-25

    Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.

  13. Carrier phases for iodine in the Allende meteorite and their associated 129Xer/127I ratios: A laser microprobe study

    International Nuclear Information System (INIS)

    Kirschbaum, C.

    1988-01-01

    A new mass spectrometer of high sensitivity coupled to a laser microprobe sample extraction system was used to determine the 129 Xe r /I ratios of minerals which carry 129 Xe r in the Allende meteorite. In sodalite-rich fine-grained inclusions Ok correlates with Cl verifying that sodalite carries the majority of I. One sample heated above the decomposition point of sodalite had a small amount of residual I indicating the presence of at least one other carrier. The Cl/I ratio of the matrix was different from that of the fine-grained inclusions and the 129 Xe r correlates with trapped Xe. This implies either a different Cl/I ratio for sodalite in the matrix or a different carrier for I in matrix. In melilite from one coarse-grained inclusion, I is variable and correlates with both Xe and, surprisingly, 131 Xe produced from Ba during the irradiation. In coarse-grained inclusions with Cl-rich alteration products in cracks, most of the 129 Xe r is found in those cracks. A residual amount of 129 Xe r is present in melilite samples which show no Cl-rich alteration products, and is a trace impurity in the melilite. The 129 Xe r / 127 I ratio of sodalite from the fine-grained inclusions, and matrix is similar--between 1.25 and 1.35 x 10 -4 . This implies an age for these samples within 2 million years of a Bjurbole chondrule included in the irradiation as a standard. The 129 Xe r / 127 I ratio of a sample of a fine-grained inclusion heated to 1,100 degree C is 2.4 x 10 -4 or 16 million years before the Bjurbole chondrule. A coarse-grained inclusion on the other hand showed a 129 Xe r / 127 I ratio of 3.15 x 10 -5 or 35 million years after the Bjurbole chondrule

  14. A Mouse Model That Reproduces the Developmental Pathways and Site Specificity of the Cancers Associated With the Human BRCA1 Mutation Carrier State

    Directory of Open Access Journals (Sweden)

    Ying Liu

    2015-10-01

    Full Text Available Predisposition to breast and extrauterine Müllerian carcinomas in BRCA1 mutation carriers is due to a combination of cell-autonomous consequences of BRCA1 inactivation on cell cycle homeostasis superimposed on cell-nonautonomous hormonal factors magnified by the effects of BRCA1 mutations on hormonal changes associated with the menstrual cycle. We used the Müllerian inhibiting substance type 2 receptor (Mis2r promoter and a truncated form of the Follicle stimulating hormone receptor (Fshr promoter to introduce conditional knockouts of Brca1 and p53 not only in mouse mammary and Müllerian epithelia, but also in organs that control the estrous cycle. Sixty percent of the double mutant mice developed invasive Müllerian and mammary carcinomas. Mice carrying heterozygous mutations in Brca1 and p53 also developed invasive tumors, albeit at a lesser (30% rate, in which the wild type alleles were no longer present due to loss of heterozygosity. While mice carrying heterozygous mutations in both genes developed mammary tumors, none of the mice carrying only a heterozygous p53 mutation developed such tumors (P < 0.0001, attesting to a role for Brca1 mutations in tumor development. This mouse model is attractive to investigate cell-nonautonomous mechanisms associated with cancer predisposition in BRCA1 mutation carriers and to investigate the merit of chemo-preventive drugs targeting such mechanisms.

  15. Genome-wide identification of blood DNA methylation patterns associated with early-onset hepatocellular carcinoma development in hepatitis B carriers.

    Science.gov (United States)

    Kao, Wei-Yi; Yang, Shu-Han; Liu, Wen-Jie; Yeh, Meng-Yin; Lin, Chih-Lin; Liu, Chun-Jen; Huang, Chi-Jung; Lin, Shi-Ming; Lee, Shou-Dong; Chen, Pei-Jer; Yu, Ming-Whei

    2017-02-01

    The etiology of early-onset hepatocellular carcinoma (HCC) among hepatitis B virus (HBV) carriers remains unclear. DNA methylation levels in peripheral leukocytes have been associated with different environmental exposures and immune or inflammatory response. We aimed to identify methylation signatures of peripheral leukocytes that could track hepatitis B progression to HCC, especially for early-onset HCC. We first performed an epigenome-wide association analysis on 48 matched case-control pairs in a nested case-control study within a 22-yr follow-up cohort of HBV carriers. Through this analysis we found that progression to early-onset HCC involved methylation variable positions across the genome, in which a substantial proportion displayed significant variation due to HBV viral load, chronic hepatitis status, and/or leukocyte subtype composition, and these associations were significantly enriched among genes in immune pathways. Methylation at probes cg00300879, cg06872964, and cg07080864, that are located within the proximal promoter of CNKSR1, IFI44L, and PENK, respectively, was validated by bisulfite pyrosequencing and findings were replicated in a case-sibling study of early-onset HCC (134 cases vs. 174 sibling controls). Furthermore, a high methylation score, constructed using the three probes, was predictive for the risk of early-onset HCC in two datasets (adjusted-odds ratios = 0.21-0.32, P ≤ 0.0206). This association was also observed for late-onset HCC (adjusted-odds ratio = 0.42-0.47, P ≤ 0.0194) in a nested case-control study (120 cases vs. 178 controls). In prospective analysis, change in the score was detected 5-9 yr before HCC onset. Blood-based methylation profiling provides new insights into the complexity of virus-host interaction underlying HBV-related HCC, holding promise for the disease risk management. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.

    Science.gov (United States)

    Yamada, K; Limprasert, P; Ratanasukon, M; Tengtrisorn, S; Yingchareonpukdee, J; Vasiknanonte, P; Kitaoka, T; Ghadami, M; Niikawa, N; Kishino, T

    2001-04-15

    We describe two Thai families with Norrie disease (ND) in three generations, including 10 affected males and one manifesting female. All affected males in each family had severely defective eye development with complete loss of vision. In addition, three male patients (one from family 1 and two from family 2) suffered from epilepsy, and one female carrier from one family manifested blindness with phthisis bulbi in her right eye. Mutation analysis of the ND gene (NDP) revealed two different novel missense mutations (L16P and S75P) that co-segregated with ND in each family, suggesting that the newly appearing proline at codon 16 or codon 75 alters the conformation of the ND protein and contributes to the severe phenotype of ND in each family. Other studies suggest that epileptic seizures or growth retardation that is associated with ND is the consequence of loss of contiguous genes, because most such patients had deletions extending beyond the Norrie locus. Our finding that the three affected males in the two families with the missense mutations had epilepsy does not support a contiguous gene effect, but favors the pleiotropism of NDP, at least as far as the epileptic manifestation is concerned. The unilateral blindness in the female carrier may have been due to non-random X-inactivation. Copyright 2001 Wiley-Liss, Inc.

  17. The association of reduced folate carrier 80G>A polymorphism to outcome in childhood acute lymphoblastic leukemia interacts with chromosome 21 copy number

    DEFF Research Database (Denmark)

    Gregers, Jannie; Christensen, Ib Jarle; Dalhoff, Kim

    2010-01-01

    with chromosome 21 copy number in the leukemic clone. A total of 500 children with acute lymphoblastic leukemia treated according to the common Nordic treatment protocols were included, and we found that the RFC AA variant was associated with a 50% better chance of staying in remission compared with GG or GA......The reduced folate carrier (RFC) is involved in the transport of methotrexate (MTX) across the cell membrane. The RFC gene (SLC19A1) is located on chromosome 21, and we hypothesized that the RFC80 G>A polymorphism would affect outcome and toxicity in childhood leukemia and that this could interact...... variants (P = .046). Increased copy numbers of chromosome 21 appear to improve outcome also in children with GA or GG variant. In a subset of 182 children receiving 608 high-dose MTX courses, we observed higher degree of bone marrow toxicity in patients with the RFC AA variant compared with GA/GG variants...

  18. PCR diagnosis of tick-borne pathogens in Maharashtra state, India indicates fitness cost associated with carrier infections is greater for crossbreed than native cattle breeds.

    Directory of Open Access Journals (Sweden)

    Sunil W Kolte

    Full Text Available Tick-borne pathogens (TBP are responsible for significant economic losses to cattle production, globally. This is particularly true in countries like India where TBP constrain rearing of high yielding Bos taurus, as they show susceptibility to acute tick borne disease (TBD, most notably tropical theileriosis caused by Theileria annulata. This has led to a programme of cross breeding Bos taurus (Holstein-Friesian or Jersey with native Bos indicus (numerous breeds to generate cattle that are more resistant to disease. However, the cost to fitness of subclinical carrier infection in crossbreeds relative to native breeds is unknown, but could represent a significant hidden economic cost. In this study, a total of 1052 bovine blood samples, together with associated data on host type, sex and body score, were collected from apparently healthy animals in four different agro-climatic zones of Maharashtra state. Samples were screened by PCR for detection of five major TBPs: T. annulata, T. orientalis, B. bigemina, B. bovis and Anaplasma spp.. The results demonstrated that single and co-infection with TBP are common, and although differences in pathogen spp. prevalence across the climatic zones were detected, simplistic regression models predicted that host type, sex and location are all likely to impact on prevalence of TBP. In order to remove issues with autocorrelation between variables, a subset of the dataset was modelled to assess any impact of TBP infection on body score of crossbreed versus native breed cattle (breed type. The model showed significant association between infection with TBP (particularly apicomplexan parasites and poorer body condition for crossbreed animals. These findings indicate potential cost of TBP carrier infection on crossbreed productivity. Thus, there is a case for development of strategies for targeted breeding to combine productivity traits with disease resistance, or to prevent transmission of TBP in India for economic

  19. PCR diagnosis of tick-borne pathogens in Maharashtra state, India indicates fitness cost associated with carrier infections is greater for crossbreed than native cattle breeds.

    Science.gov (United States)

    Kolte, Sunil W; Larcombe, Stephen D; Jadhao, Suresh G; Magar, Swapnil P; Warthi, Ganesh; Kurkure, Nitin V; Glass, Elizabeth J; Shiels, Brian R

    2017-01-01

    Tick-borne pathogens (TBP) are responsible for significant economic losses to cattle production, globally. This is particularly true in countries like India where TBP constrain rearing of high yielding Bos taurus, as they show susceptibility to acute tick borne disease (TBD), most notably tropical theileriosis caused by Theileria annulata. This has led to a programme of cross breeding Bos taurus (Holstein-Friesian or Jersey) with native Bos indicus (numerous) breeds to generate cattle that are more resistant to disease. However, the cost to fitness of subclinical carrier infection in crossbreeds relative to native breeds is unknown, but could represent a significant hidden economic cost. In this study, a total of 1052 bovine blood samples, together with associated data on host type, sex and body score, were collected from apparently healthy animals in four different agro-climatic zones of Maharashtra state. Samples were screened by PCR for detection of five major TBPs: T. annulata, T. orientalis, B. bigemina, B. bovis and Anaplasma spp.. The results demonstrated that single and co-infection with TBP are common, and although differences in pathogen spp. prevalence across the climatic zones were detected, simplistic regression models predicted that host type, sex and location are all likely to impact on prevalence of TBP. In order to remove issues with autocorrelation between variables, a subset of the dataset was modelled to assess any impact of TBP infection on body score of crossbreed versus native breed cattle (breed type). The model showed significant association between infection with TBP (particularly apicomplexan parasites) and poorer body condition for crossbreed animals. These findings indicate potential cost of TBP carrier infection on crossbreed productivity. Thus, there is a case for development of strategies for targeted breeding to combine productivity traits with disease resistance, or to prevent transmission of TBP in India for economic benefit.

  20. Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome

    DEFF Research Database (Denmark)

    Schejbel, Lone; Rosenfeldt, Vibeke; Marquart, Hanne

    2009-01-01

    Properdin is an initiator and stabilizer of the alternative complement activation pathway (AP). Deficiency of properdin is a rare X-linked condition characterized by increased susceptibility to infection with Neisseria meningitidis associated with a high mortality rate. We report properdin defici...... otitis media (P=0.0012), as well as recurrent pneumonia (P=0.0017). This study is the first to show a significant association between properdin deficiency and recurrent infections....

  1. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    NARCIS (Netherlands)

    F.J. Couch (Fergus); M.M. Gaudet (Mia); A.C. Antoniou (Antonis); S.J. Ramus (Susan); K.B. Kuchenbaecker (Karoline); P. Soucy (Penny); J. Beesley (Jonathan); X. Chen (Xiaoqing); X. Wang (Xing); T. Kircchoff (Tomas); L. McGuffog (Lesley); D. Barrowdale (Daniel); A. Lee (Andrew); S. Healey (Sue); O. Sinilnikova (Olga); I.L. Andrulis (Irene); H. Ozcelik (Hilmi); A.M. Mulligan (Anna Marie); M. Thomassen (Mads); A-M. Gerdes (Anne-Marie); U.B. Jensen; A.-B. Skytte (Anne-Bine); T.A. Kruse (Torben); M.A. Caligo (Maria); A. von Wachenfeldt (Anna); G. Barbany-Bustinza (Gisela); N. Loman (Niklas); M. Soller (Maria); H. Ehrencrona (Hans); P. Karlsson (Per); K.L. Nathanson (Katherine); R. Rebbeck (Timothy); S.M. Domchek (Susan); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska (Katarzyna); K. Durda (Katarzyna); E. Zołwocka (Elzbieta); T. Huzarski (Tomasz); T. Byrski (Tomasz); J. Gronwald (Jacek); C. Cybulski (Cezary); B. Górski (Bohdan); A. Osorio (Ana); M. Durán (Mercedes); M.I. Tejada; J. Benítez (Javier); U. Hamann (Ute); F.B.L. Hogervorst (Frans); T.A.M. van Os (Theo); F.E. van Leeuwen (Flora); E.J. Meijers-Heijboer (Hanne); J.T. Wijnen (Juul); M.J. Blok (Marinus); C.M. Kets; M.J. Hooning (Maartje); R.A. Oldenburg (Rogier); M.G.E.M. Ausems (Margreet); S. Peock (Susan); D. Frost (Debra); S.D. Ellis (Steve); R. Platte (Radka); E. Fineberg (Elena); D.G. Evans (Gareth); C. Jacobs (Chris); R. Eeles (Rosalind); J.W. Adlard (Julian); R. Davidson (Rosemarie); D. Eccles (Diana); T.J. Cole (Trevor); J. Cook (Jackie); J. Paterson (Joan); C. Brewer (Carole); F. Douglas (Fiona); S.V. Hodgson (Shirley); P.J. Morrison (Patrick); L.J. Walker (Lisa); M.E. Porteous (Mary); M.J. Kennedy (John); L. Side (Lucy); B. Bove (B.); A.K. Godwin (Andrew); D. Stoppa-Lyonnet (Dominique); M. Fassy-Colcombet (Marion); L. Castera (Laurent); F. Cornelis (Franco̧is); S. Mazoyer (Sylvie); M. Léone (Mélanie); N. Boutry-Kryza (N.); B. Bressac-de Paillerets (Brigitte); O. Caron (Olivier); P. Pujol (Pascal); I. Coupier (Isabelle); C.D. Delnatte (Capucine); L. Akloul (Linda); H. Lynch (Henry); C.L. Snyder (Carrie); S.S. Buys (Saundra); M.B. Daly (Mary); M.-B. Terry (Mary-Beth); W. Chung (Wendy); E.M. John (Esther); A. Miron (Alexander); M.C. Southey (Melissa); J.L. Hopper (John); D. Goldgar (David); C.F. Singer (Christian); C. Rappaport (Christine); M.-K. Tea; A. Fink-Retter (Anneliese); T.V.O. Hansen (Thomas); F.C. Nielsen (Finn); A. Arason (Adalgeir); J. Vijai (Joseph); S. Shah (Sonia); K. Sarrel (Kara); M. Robson (Mark); M. Piedmonte (Marion); K. Phillips (Kelly); J. Basil (Jack); W.S. Rubinstein (Wendy); J.F. Boggess (John); K. Wakeley (Katie); A. Ewart-Toland (Amanda); M. Montagna (Marco); S. Agata (Simona); E.N. Imyanitov (Evgeny); C. Isaacs (Claudine); R. Janavicius (Ramunas); C. Lazaro (Conxi); I. Blanco (Ignacio); L. Feliubadaló (L.); J. Brunet (Joan); S.A. Gayther (Simon); P.D.P. Pharoah (Paul); K. Odunsi (Kunle); B.Y. Karlan (Beth); C.S. Walsh (Christine); E. Olah; S.-H. Teo (Soo-Hwang); P.A. Ganz (Patricia); M.S. Beattie (Mary); E.J. van Rensburg (Elizabeth); C.M. Dorfling (Cecelia); O. Diez (Orland); A. Kwong (Ava); R.K. Schmutzler (Rita); B. Wapenschmidt (Barbara); C.W. Engel (Christoph); A. Meindl (Alfons); N. Ditsch (Nina); N. Arnold (Norbert); S. Heidemann (Simone); D. Niederacher (Dieter); S. Preisler-Adams (Sabine); D. Gadzicki (Dorothea); R. Varon-Mateeva (Raymonda); H. Deissler (Helmut); P.A. Gehrig (Paola A.); C. Sutter (Christian); K. Kast (Karin); B. Fiebig (Britta); W. Heinritz (Wolfram); T. Caldes (Trinidad); M. de La Hoya (Miguel); T.A. Muranen (Taru); H. Nevanlinna (Heli); M. Tischkowitz (Marc); A.B. Spurdle (Amanda); S.L. Neuhausen (Susan); Y.C. Ding (Yuan); N.M. Lindor (Noralane); Z. Fredericksen (Zachary); V.S. Pankratz (Shane); P. Peterlongo (Paolo); S. Manoukian (Siranoush); B. Peissel (Bernard); D. Zaffaroni (D.); M. Barile (Monica); L. Bernard (Loris); A. Viel (Alessandra); G. Giannini (Giuseppe); L. Varesco (Liliana); P. Radice (Paolo); M.H. Greene (Mark); P.L. Mai (Phuong); D.F. Easton (Douglas); G. Chenevix-Trench (Georgia); K. Offit (Kenneth); J. Simard (Jacques)

    2012-01-01

    textabstractBackground: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for

  2. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    NARCIS (Netherlands)

    Couch, Fergus J.; Gaudet, Mia M.; Antoniou, Antonis C.; Ramus, Susan J.; Kuchenbaecker, Karoline B.; Soucy, Penny; Beesley, Jonathan; Chen, Xiaoqing; Wang, Xianshu; Kirchhoff, Tomas; McGuffog, Lesley; Barrowdale, Daniel; Lee, Andrew; Healey, Sue; Sinilnikova, Olga M.; Andrulis, Irene L.; Ozcelik, Hilmi; Mulligan, Anna Marie; Thomassen, Mads; Gerdes, Anne-Marie; Jensen, Uffe Birk; Skytte, Anne-Bine; Kruse, Torben A.; Caligo, Maria A.; von Wachenfeldt, Anna; Barbany-Bustinza, Gisela; Loman, Niklas; Soller, Maria; Ehrencrona, Hans; Karlsson, Per; Nathanson, Katherine L.; Rebbeck, Timothy R.; Domchek, Susan M.; Jakubowska, Ania; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Zlowocka, Elzbieta; Huzarski, Tomasz; Byrski, Tomasz; Gronwald, Jacek; Cybulski, Cezary; Górski, Bohdan; Osorio, Ana; Durán, Mercedes; Tejada, María Isabel; Benitez, Javier; Hamann, Ute; Hogervorst, Frans B. L.; van Os, Theo A.; van Leeuwen, Flora E.; Meijers-Heijboer, Hanne E. J.; Wijnen, Juul; Blok, Marinus J.; Kets, Marleen; Hooning, Maartje J.; Oldenburg, Rogier A.; Ausems, Margreet G. E. M.; Peock, Susan; Frost, Debra; Ellis, Steve D.; Platte, Radka; Fineberg, Elena; Evans, D. Gareth; Jacobs, Chris; Eeles, Rosalind A.; Adlard, Julian; Davidson, Rosemarie; Eccles, Diana M.; Cole, Trevor; Cook, Jackie; Paterson, Joan; Brewer, Carole; Douglas, Fiona; Hodgson, Shirley V.; Morrison, Patrick J.; Walker, Lisa; Porteous, Mary E.; Kennedy, M. John; Side, Lucy E.; Bove, Betsy; Godwin, Andrew K.; Stoppa-Lyonnet, Dominique; Fassy-Colcombet, Marion; Castera, Laurent; Cornelis, François; Mazoyer, Sylvie; Léoné, Mélanie; Boutry-Kryza, Nadia; Bressac-de Paillerets, Brigitte; Caron, Olivier; Pujol, Pascal; Coupier, Isabelle; Delnatte, Capucine; Akloul, Linda; Lynch, Henry T.; Snyder, Carrie L.; Buys, Saundra S.; Daly, Mary B.; Terry, Marybeth; Chung, Wendy K.; John, Esther M.; Miron, Alexander; Southey, Melissa C.; Hopper, John L.; Goldgar, David E.; Singer, Christian F.; Rappaport, Christine; tea, Muy-Kheng M.; Fink-Retter, Anneliese; Hansen, Thomas V. O.; Nielsen, Finn C.; Arason, Aðalgeir; Vijai, Joseph; Shah, Sohela; Sarrel, Kara; Robson, Mark E.; Piedmonte, Marion; Phillips, Kelly; Basil, Jack; Rubinstein, Wendy S.; Boggess, John; Wakeley, Katie; Ewart-Toland, Amanda; Montagna, Marco; Agata, Simona; Imyanitov, Evgeny N.; Isaacs, Claudine; Janavicius, Ramunas; Lazaro, Conxi; Blanco, Ignacio; Feliubadalo, Lidia; Brunet, Joan; Gayther, Simon A.; Pharoah, Paul P. D.; Odunsi, Kunle O.; Karlan, Beth Y.; Walsh, Christine S.; Olah, Edith; teo, Soo Hwang; Ganz, Patricia A.; Beattie, Mary S.; van Rensburg, Elizabeth J.; Dorfling, Cecelia M.; Diez, Orland; Kwong, Ava; Schmutzler, Rita K.; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Heidemann, Simone; Niederacher, Dieter; Preisler-Adams, Sabine; Gadzicki, Dorothea; Varon-Mateeva, Raymonda; Deissler, Helmut; Gehrig, Andrea; Sutter, Christian; Kast, Karin; Fiebig, Britta; Heinritz, Wolfram; Caldes, Trinidad; de la Hoya, Miguel; Muranen, Taru A.; Nevanlinna, Heli; Tischkowitz, Marc D.; Spurdle, Amanda B.; Neuhausen, Susan L.; Ding, Yuan Chun; Lindor, Noralane M.; Fredericksen, Zachary; Pankratz, V. Shane; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Barile, Monica; Bernard, Loris; Viel, Alessandra; Giannini, Giuseppe; Varesco, Liliana; Radice, Paolo; Greene, Mark H.; Mai, Phuong L.; Easton, Douglas F.; Chenevix-Trench, Georgia; Offit, Kenneth; Simard, Jacques

    2012-01-01

    Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these

  3. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Couch, Fergus J; Gaudet, Mia M; Antoniou, Antonis C

    2012-01-01

    Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mut...

  4. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    NARCIS (Netherlands)

    Mulligan, Anna Marie; Couch, Fergus J.; Barrowdale, Daniel; Domchek, Susan M.; Eccles, Diana; Nevanlinna, Heli; Ramus, Susan J.; Robson, Mark; Sherman, Mark; Spurdle, Amanda B.; Wappenschmidt, Barbara; Lee, Andrew; McGuffog, Lesley; Healey, Sue; Sinilnikova, Olga M.; Janavicius, Ramunas; Hansen, Thomas vO; Nielsen, Finn C.; Ejlertsen, Bent; Osorio, Ana; Muñoz-Repeto, Iván; Durán, Mercedes; Godino, Javier; Pertesi, Maroulio; Benítez, Javier; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Cattaneo, Elisa; Bonanni, Bernardo; Viel, Alessandra; Pasini, Barbara; Papi, Laura; Ottini, Laura; Savarese, Antonella; Bernard, Loris; Radice, Paolo; Hamann, Ute; Verheus, Martijn; Meijers-Heijboer, Hanne E. J.; Wijnen, Juul; Gómez García, Encarna B.; Nelen, Marcel R.; Kets, C. Marleen; Seynaeve, Caroline; Tilanus-Linthorst, Madeleine M. A.; van der Luijt, Rob B.; van Os, Theo; Rookus, Matti; Frost, Debra; Jones, J. Louise; Evans, D. Gareth; Lalloo, Fiona; Eeles, Ros; Izatt, Louise; Adlard, Julian; Davidson, Rosemarie; Cook, Jackie; Donaldson, Alan; Dorkins, Huw; Gregory, Helen; Eason, Jacqueline; Houghton, Catherine; Barwell, Julian; Side, Lucy E.; McCann, Emma; Murray, Alex; Peock, Susan; Godwin, Andrew K.; Schmutzler, Rita K.; Rhiem, Kerstin; Engel, Christoph; Meindl, Alfons; Ruehl, Ina; Arnold, Norbert; Niederacher, Dieter; Sutter, Christian; Deissler, Helmut; Gadzicki, Dorothea; Kast, Karin; Preisler-Adams, Sabine; Varon-Mateeva, Raymonda; Schoenbuchner, Ines; Fiebig, Britta; Heinritz, Wolfram; Schäfer, Dieter; Gevensleben, Heidrun; Caux-Moncoutier, Virginie; Fassy-Colcombet, Marion; Cornelis, François; Mazoyer, Sylvie; Léoné, Mélanie; Boutry-Kryza, Nadia; Hardouin, Agnès; Berthet, Pascaline; Muller, Danièle; Fricker, Jean-Pierre; Mortemousque, Isabelle; Pujol, Pascal; Coupier, Isabelle; Lebrun, Marine; Kientz, Caroline; Longy, Michel; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Isaacs, Claudine; Caldes, Trinidad; de la Hoya, Miguel; Heikkinen, Tuomas; Aittomäki, Kristiina; Blanco, Ignacio; Lazaro, Conxi; Barkardottir, Rosa B.; Soucy, Penny; Dumont, Martine; Simard, Jacques; Montagna, Marco; Tognazzo, Silvia; D'Andrea, Emma; Fox, Stephen; Yan, Max; Rebbeck, Tim; Olopade, Olufunmilayo; Weitzel, Jeffrey N.; Lynch, Henry T.; Ganz, Patricia A.; Tomlinson, Gail E.; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon S.; Lindor, Noralane M.; Szabo, Csilla; Offit, Kenneth; Sakr, Rita; Gaudet, Mia; Bhatia, Jasmine; Kauff, Noah; Singer, Christian F.; tea, Muy-Kheng; Gschwantler-Kaulich, Daphne; Fink-Retter, Anneliese; Mai, Phuong L.; Greene, Mark H.; Imyanitov, Evgeny; O'Malley, Frances P.; Ozcelik, Hilmi; Glendon, Gordon; Toland, Amanda E.; Gerdes, Anne-Marie; Thomassen, Mads; Kruse, Torben A.; Jensen, Uffe Birk; Skytte, Anne-Bine; Caligo, Maria A.; Soller, Maria; Henriksson, Karin; Wachenfeldt, von Anna; Arver, Brita; Stenmark-Askmalm, Marie; Karlsson, Per; Ding, Yuan Chun; Neuhausen, Susan L.; Beattie, Mary; Pharoah, Paul D. P.; Moysich, Kirsten B.; Nathanson, Katherine L.; Karlan, Beth Y.; Gross, Jenny; John, Esther M.; Daly, Mary B.; Buys, Saundra M.; Southey, Melissa C.; Hopper, John L.; Terry, Mary Beth; Chung, Wendy; Miron, Alexander F.; Goldgar, David; Chenevix-Trench, Georgia; Easton, Douglas F.; Andrulis, Irene L.; Antoniou, Antonis C.; Ellis, Steve; Fineberg, Elena; Platte, Radka; Miedzybrodzka, Zosia; Morrison, Patrick; Jeffers, Lisa; Cole, Trevor; Ong, Kai-Ren; Hoffman, Jonathan; James, Margaret; Paterson, Joan; Downing, Sarah; Taylor, Amy; Rogers, T.; Kennedy, John M.; Barton, David; Porteous, Mary; Drummond, Sarah; Brewer, Carole; Kivuva, Emma; Searle, Anne; Goodman, Selina; Hill, Kathryn; Murday, Victoria; Bradshaw, Nicola; Snadden, Lesley; Longmuir, Mark; Watt, Catherine; Gibson, Sarah; Haque, Eshika; Tobias, Ed; Duncan, Alexis; Jacobs, Chris; Langman, Caroline; Whaite, Anna; Chu, Carol; Miller, Julie; Ellis, Ian; Taylor, Jane; Male, Alison; Berlin, Cheryl; Collier, Rebecca; Douglas, Fiona; Claber, Oonagh; Jobson, Irene; Walker, Lisa; McLeod, Diane; Halliday, Dorothy; Durell, Sarah; Stayner, Barbara; Shanley, Susan; Rahman, Nazneen; Houlston, Richard; Bancroft, Elizabeth; D'Mello, Lucia; Page, Elizabeth; Ardern-Jones, Audrey; Kohut, Kelly; Wiggins, Jennifer; Castro, Elena; Mitra, Anita; Robertson, Lisa; Quarrell, Oliver; Bardsley, Cathryn; Hodgson, Shirley; Goff, Sheila; Brice, Glen; Winchester, Lizzie; Eddy, Charlotte; Tripathi, Vishakha; Attard, Virginia; Lucassen, Anneke; Crawford, Gillian; McBride, Donna; Smalley, Sarah; Barjhoux, Laure; Verny-Pierre, Carole; Giraud, Sophie; Gauthier-Villars, Marion; Buecher, Bruno; Houdayer, Claude; Belotti, Muriel; Tirapo, Carole; de Pauw, Antoine; Roussy, Gustave; Bressac-de-Paillerets, Brigitte; Remenieras, Audrey; Byrde, Véronique; Caron, Olivier; Lenoir, Gilbert; Bignon, Yves-Jean; Uhrhammer, Nancy; Bérard, Léon; Lasset, Christine; Bonadona, Valérie; Baclesse, François; Sobol, Hagay; Bourdon, Violaine; Noguchi, Tetsuro; Eisinger, François; Coulet, Florence; Colas, Chrystelle; Soubrier, Florent; Peyrat, Jean-Philippe; Fournier, Joëlle; Révillion, Françoise; Vennin, Philippe; Adenis, Claude; Rouleau, Etienne; Lidereau, Rosette; Demange, Liliane; Nogues, Catherine; Barouk-Simonet, Emmanuelle; Bonnet, Françoise; Bubien, Virginie; Toulas, Christine; Guimbaud, Rosine; Gladieff, Laurence; Feillel, Viviane; Leroux, Dominique; Dreyfus, Hélène; Rebischung, Christine; Peysselon, Magalie; Coron, Fanny; Faivre, Laurence; Prieur, Fabienne; Ferrer, Sandra Fert; Lacassagne, Antoine; Frénay, Marc; Vénat-Bouvet, Laurence; Delnatte, Capucine; Snyder, Carrie L.; Hogervorst, F. B. L.; Verhoef, S.; Verheus, M.; van 't Veer, L. J.; van Leeuwen, F. E.; Collée, M.; van den Ouweland, A. M. W.; Jager, A.; Hooning, M. J.; van Asperen, C. J.; Wijnen, J. T.; Vreeswijk, M. P.; Tollenaar, R. A.; Devilee, P.; Ligtenberg, M. J.; Hoogerbrugge, N.; Ausems, M. G.; Aalfs, C. M.; Gille, J. J. P.; Waisfisz, Q.; Gomez-Garcia, E. B.; van Roozendaal, C. E.; Blok, Marinus J.; Caanen, B.; Oosterwijk, J. C.; van der Hout, A. H.; Mourits, M. J.; Vasen, H. F.; Nordling, Margareta; Bergman, Annika; Einbeigi, Zakaria; Liedgren, Sigrun; Borg, Åke; Loman, Niklas; Olsson, Håkan; Kristoffersson, Ulf; Jernström, Helena; Harbst, Katja; Lindblom, Annika; Liljegren, Annelie; Barbany-Bustinza, Gisela; Rantala, Johanna; Melin, Beatrice; Grönberg, Henrik; Stattin, Eva-Lena; Emanuelsson, Monica; Ehrencrona, Hans; Rosenquist, Richard; Dahl, Niklas

    2011-01-01

    Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2

  5. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    NARCIS (Netherlands)

    A.M. Mulligan (Anna Marie); F.J. Couch (Fergus); D. Barrowdale (Daniel); S.M. Domchek (Susan); D. Eccles (Diana); H. Nevanlinna (Heli); S.J. Ramus (Susan); M. Robson (Mark); M.E. Sherman (Mark); A.B. Spurdle (Amanda); B. Wapenschmidt (Barbara); A. Lee (Andrew); L. McGuffog (Lesley); S. Healey (Sue); O. Sinilnikova (Olga); R. Janavicius (Ramunas); T.V.O. Hansen (Thomas); F.C. Nielsen (Finn); B. Ejlertsen (Bent); A. Osorio (Ana); I. Muñoz-Repeto (Iván); M. Durán (Mercedes); J. Godino (Javier); M. Pertesi (Maroulio); J. Benítez (Javier); P. Peterlongo (Paolo); S. Manoukian (Siranoush); B. Peissel (Bernard); D. Zaffaroni (D.); E. Cattaneo (Elisa); B. Bonnani (Bernardo); A. Viel (Alessandra); B. Pasini (Barbara); L. Papi (Laura); L. Ottini (Laura); A. Savarese (Antonella); L. Bernard (Loris); P. Radice (Paolo); U. Hamann (Ute); M. Verheus (Martijn); E.J. Meijers-Heijboer (Hanne); J.T. Wijnen (Juul); E.B. Gómez García (Encarna); M.R. Nelen (Marcel); C.M. Kets; C.M. Seynaeve (Caroline); M.M.A. Tilanus-Linthorst (Madeleine); R.B. van der Luijt (Rob); T.V. Os (Theo); M.A. Rookus (Matti); D. Frost (Debra); J.L. Jones (J Louise); D.G. Evans (Gareth); F. Lalloo (Fiona); R. Eeles (Rosalind); L. Izatt (Louise); J.W. Adlard (Julian); R. Davidson (Rosemarie); J. Cook (Jackie); A. Donaldson (Alan); H. Dorkins (Huw); H. Gregory (Helen); J. Eason (Jacqueline); C. Houghton (Catherine); J. Barwell (Julian); L. Side (Lucy); E. McCann (Emma); A. Murray (Alexandra); S. Peock (Susan); A.K. Godwin (Andrew); R.K. Schmutzler (Rita); K. Rhiem (Kerstin); C.W. Engel (Christoph); A. Meindl (Alfons); I. Ruehl (Ina); N. Arnold (Norbert); D. Niederacher (Dieter); C. Sutter (Christian); H. Deissler (Helmut); D. Gadzicki (Dorothea); K. Kast (Karin); S. Preisler-Adams (Sabine); R. Varon-Mateeva (Raymonda); I. Schoenbuchner (Ines); B. Fiebig (Britta); W. Heinritz (Wolfram); D. Schäfer (Dieter); H. Gevensleben (Heidrun); V. Caux-Moncoutier (Virginie); M. Fassy-Colcombet (Marion); F. Cornelis (Franco̧is); S. Mazoyer (Sylvie); M. Léone (Mélanie); N. Boutry-Kryza (N.); A. Hardouin (Agnès); P. Berthet (Pascaline); D.W. Muller (Danièle); J.P. Fricker (Jean Pierre); I. Mortemousque (Isabelle); P. Pujol (Pascal); I. Coupier (Isabelle); M. Lebrun (Marine); C. Kientz (Caroline); M. Longy (Michel); N. Sevenet (Nicolas); D. Stoppa-Lyonnet (Dominique); C. Isaacs (Claudine); T. Caldes (Trinidad); M. de La Hoya (Miguel); T. Heikinen (Tuomas); K. Aittomäki (Kristiina); I. Blanco (Ignacio); C. Lazaro (Conxi); R.B. Barkardottir (Rosa); P. Soucy (Penny); M. Dumont (Martine); J. Simard (Jacques); M. Montagna (Marco); S. Tognazzo (Silvia); E. D'Andrea (Emma); S.B. Fox (Stephen); M. Yan (Max); R. Rebbeck (Timothy); O.I. Olopade (Olofunmilayo); J.N. Weitzel (Jeffrey); H. Lynch (Henry); P.A. Ganz (Patricia); G. Tomlinson (Gail); X. Wang (Xing); Z. Fredericksen (Zachary); V.S. Pankratz (Shane); N.M. Lindor (Noralane); C. Szabo (Csilla); K. Offit (Kenneth); R. Sakr (Rita); M.M. Gaudet (Mia); K.P. Bhatia (Kailash); N. Kauff (Noah); C.F. Singer (Christian); M.-K. Tea; D. Gschwantler-Kaulich (Daphne); A. Fink-Retter (Anneliese); P.L. Mai (Phuong); M.H. Greene (Mark); E.N. Imyanitov (Evgeny); F.P. O'Malley (Frances); H. Ozcelik (Hilmi); G. Glendon (Gord); A.E. Toland (Amanda); A-M. Gerdes (Anne-Marie); M. Thomassen (Mads); T.A. Kruse (Torben); U.B. Jensen; A.-B. Skytte (Anne-Bine); M.A. Caligo (Maria); M. Soller (Maria); K. Henriksson (Karin); A. von Wachenfeldt (Anna); B. Arver (Brita Wasteson); M. Stenmark-Askmalm (M.); P. Karlsson (Per); Y.C. Ding (Yuan); S.L. Neuhausen (Susan); M.S. Beattie (Mary); P.D.P. Pharoah (Paul); K.B. Moysich (Kirsten); K.L. Nathanson (Katherine); B.Y. Karlan (Beth); J. Gross (Jenny); E.M. John (Esther); M.B. Daly (Mary); S.S. Buys (Saundra); M.C. Southey (Melissa); J.L. Hopper (John); M.-B. Terry (Mary-Beth); W. Chung (Wendy); A. Miron (Alexander); D. Goldgar (David); G. Chenevix-Trench (Georgia); D.F. Easton (Douglas); I.L. Andrulis (Irene); A.C. Antoniou (Antonis)

    2011-01-01

    textabstractIntroduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes

  6. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Antoniou, Antonis C; Spurdle, Amanda B; Sinilnikova, Olga M

    2008-01-01

    Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorp...

  7. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

    Science.gov (United States)

    2012-01-01

    Introduction Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers. PMID:22348646

  8. Factor VII R353Q genetic polymorphism is associated with altered warfarin sensitivity among CYP2C9 *1/*1 carriers.

    Science.gov (United States)

    Mlynarsky, Liat; Bejarano-Achache, Idit; Muszkat, Mordechai; Caraco, Yoseph

    2012-05-01

    Warfarin responsiveness is characterized by marked interindividual variability. A major portion of this variability is attributed to CYP2C9 and VKORC1 polymorphisms, but almost 50% is still unaccounted for. This paper reports the first prospective study on the association between factor VII R353Q polymorphism and warfarin responsiveness during induction. Genotyping for factor VII R353Q and 323D/I polymorphisms was performed in a cohort consisting of 374 patients (198 CYP2C9*1/*1) treated with warfarin who were prospectively followed from warfarin initiation. Compared with *1/*1-R/R and *1/*1-R/Q genotype carriers, *1/*1-Q/Q homozygotes achieved higher International Normalized Ratio (INR) values while consuming lower warfarin doses. The greater sensitivity was illustrated by 82.1% higher Warfarin Sensitivity Index During Induction (WSIDI) (0.14 ± 0.11 vs. 0.08 ± 0.50 mg⁻¹ Mann-Whitney, P = 0.043). Multiple regression analysis consisting of both genetic and nongenetic factors explained 26% of WSIDI variability, with R353Q genetic polymorphism having a modest yet significant effect and accounting for 1.7% of the overall variability. Moreover, the incidence of overanticoagulation (i.e., INR > 4) was 6.94-fold higher among *1/*1-Q/Q vs. *1/*1-R/R&R/Q carriers during warfarin induction (Pearson chi-square, P = 0.005). These findings were not accounted for by a chance difference in the distribution of VKORC1 genotypes. Analysis of these parameters among the entire cohort, including CYP2C9*2 and CYP2C9*3 variant allele carriers, did not reach statistical significance. Warfarin responsiveness during induction was unrelated to factor VII 323D/I genetic polymorphism. The response to warfarin during induction is influenced by factor VII R353Q polymorphism. The prospective use of this polymorphism, along with CYP2C9 and VKORC1, may enhance the accuracy of warfarin loading. However, the impact of R353Q polymorphism on overall warfarin response is subtle, and it is therefore

  9. Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve.

    Science.gov (United States)

    Cizmeli, Ceylan; Lobel, Marci; Franasiak, Jason; Pastore, Lisa M

    2013-06-01

    To measure the level of distress and its relationship with other psychologic factors in women with diminished ovarian reserve (DOR) who participated in a fragile X genetics study. Longitudinal data analyzed with structural equation modeling. Four U.S. private and academic fertility centers. Sixty-two infertile patients with DOR. None. Fertility Problem Inventory, Coping Scale for Infertile Couples, Rosenberg Self-Esteem, Health Orientation Scale. Nineteen percent had low fertility distress, 56% had average fertility distress, and 24% had high fertility distress. Thirty-six percent self-reported a "favorable" or "very favorable" emotional response to potentially being a fragile X carrier (termed "emotions"), 53% were "ambivalent," and 11% had an unfavorable reaction. Three months after learning that they were not a carrier, these percentages were 91%, 9%, and 0%, respectively. Emotions at this second time point were significantly more positive than at pretesting. At baseline, higher self-esteem was a significant predictor of reduced fertility distress both directly and indirectly through emotions. Fertility distress was not associated with coping. Self-esteem, fertility distress, pretesting emotions, and coping were unrelated to posttesting emotions. The potential of having an explanation for one's DOR condition may have a beneficial impact on women's psychologic states during the process of genetic testing, and this appeared to be especially true for women with higher self-esteem. Psychologic interventions targeted to women with low self-esteem may reduce distress and improve reactions to genetic testing. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  10. Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    DEFF Research Database (Denmark)

    Mulligan, Anna Marie; Couch, Fergus J; Barrowdale, Daniel

    2011-01-01

    BRCA1 carriers, SNP rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele HR for ER-positive=1.35, 95%CI:1.17-1.56 vs HR=0.91, 95%CI:0.85-0.98 for ER-negative, P-heterogeneity=6.5e-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER...... subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers....

  11. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

    DEFF Research Database (Denmark)

    Osorio, A; Milne, R L; Pita, G

    2009-01-01

    Background:In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers.Methods:We have geno...

  12. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

    DEFF Research Database (Denmark)

    Osorio, A.; Milne, R.L.; Pita, G.

    2009-01-01

    BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have...... genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk...... for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out Udgivelsesdato: 2009/12/15...

  13. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

    NARCIS (Netherlands)

    Osorio, A.; Milne, R. L.; Pita, G.; Peterlongo, P.; Heikkinen, T.; Simard, J.; Chenevix-Trench, G.; Spurdle, A. B.; Beesley, J.; Chen, X.; Healey, S.; Neuhausen, S. L.; Ding, Y. C.; Couch, F. J.; Wang, X.; Lindor, N.; Manoukian, S.; Barile, M.; Viel, A.; Tizzoni, L.; Szabo, C. I.; Foretova, L.; Zikan, M.; Claes, K.; Greene, M. H.; Mai, P.; Rennert, G.; Lejbkowicz, F.; Barnett-Griness, O.; Andrulis, I. L.; Ozcelik, H.; Weerasooriya, N.; Gerdes, A.-M.; Thomassen, M.; Cruger, D. G.; Caligo, M. A.; Friedman, E.; Kaufman, B.; Laitman, Y.; Cohen, S.; Kontorovich, T.; Gershoni-Baruch, R.; Dagan, E.; Jernström, H.; Askmalm, M. S.; Arver, B.; Malmer, B.; Domchek, S. M.; Nathanson, K. L.; Brunet, J.; Ramón Y Cajal, T.; Yannoukakos, D.; Hamann, U.; Hogervorst, F. B. L.; Verhoef, S.; Gómez García, E. B.; Wijnen, J. T.; van den Ouweland, A.; Easton, D. F.; Peock, S.; Cook, M.; Oliver, C. T.; Frost, D.; Luccarini, C.; Evans, D. G.; Lalloo, F.; Eeles, R.; Pichert, G.; Cook, J.; Hodgson, S.; Morrison, P. J.; Douglas, F.; Godwin, A. K.; Sinilnikova, O. M.; Barjhoux, L.; Stoppa-Lyonnet, D.; Moncoutier, V.; Giraud, S.; Cassini, C.; Olivier-Faivre, L.; Révillion, F.; Peyrat, J.-P.; Muller, D.; Fricker, J.-P.; Lynch, H. T.; John, E. M.; Buys, S.; Daly, M.; Hopper, J. L.; Terry, M. B.; Miron, A.; Yassin, Y.; Goldgar, D.; Singer, C. F.; Gschwantler-Kaulich, D.; Pfeiler, G.; Spiess, A.-C.; Hansen, Thomas V. O.; Johannsson, O. T.; Kirchhoff, T.; Offit, K.; Kosarin, K.; Piedmonte, M.; Rodriguez, G. C.; Wakeley, K.; Boggess, J. F.; Basil, J.; Schwartz, P. E.; Blank, S. V.; Toland, A. E.; Montagna, M.; Casella, C.; Imyanitov, E. N.; Allavena, A.; Schmutzler, R. K.; Versmold, B.; Engel, C.; Meindl, A.; Ditsch, N.; Arnold, N.; Niederacher, D.; Deissler, H.; Fiebig, B.; Varon-Mateeva, R.; Schaefer, D.; Froster, U. G.; Caldes, T.; de la Hoya, M.; McGuffog, L.; Antoniou, A. C.; Nevanlinna, H.; Radice, P.; Benítez, J.; Simard, Jacques; Durocher, Francine; Laframboise, Rachel; Plante, Marie; Bridge, Peter; Parboosingh, Jilian; Chiquette, Jocelyne; Lesperance, Bernard; Karlsson, Per; Nordling, Margareta; Bergman, Annika; Einbeigi, Zakaria; Stenmark-Askmalm, Marie; Liedgren, Sigrun; Borg, Ake; Loman, Niklas; Olsson, Hakan; Kristoffersson, Ulf; Jernstrom, Helena; Harbst, Katja; Henriksson, Karin; Lindblom, Annika; Arver, Brita; von Wachenfeldt, Anna; Liljegren, Annelie; Barbany-Bustinza, Gisela; Rantala, Johanna; Malmer, Beatrice; Stattin, Eva-Lena; Emanuelsson, Monica; Ehrencrona, Hans; Brandell, Richard Rosenquist; Dahl, Niklas; Hogervorst, Frans; Verhoef, Senno; Pijpe, Anouk; van 't Veer, Laura; van Leeuwen, Flora; Rookus, Matti; Collée, Margriet; van den Ouweland, Ans; Kriege, Mieke; Schutte, Mieke; Hooning, Maartje; Seynaeve, Caroline; Tollenaar, Rob; van Asperen, Christi; Wijnen, Juul; Vreeswijk, Maaike; Devilee, Peter; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn; Ausems, Margreet; van der Luijt, Rob; Aalfs, Cora; van Os, Theo; Meijers-Heijboer, Hanne; Gille, Hans; Gomez-Garcia, Encarna; Blok, Rien; Peock, Susan; Cook, Margaret; Oliver, Clare; Frost, Debra; Miedzybrodzka, Zosia; Gregory, Helen; Morrison, Patrick; Cole, Trevor; McKeown, Carole; Taylor, Amy; Donaldson, Alan; Paterson, Joan; Murray, Alexandra; Rogers, Mark; McCann, Emma; Kennedy, John; Barton, David; Porteous, Mary; Brewer, Carole; Kivuva, Emma; Searle, Anne; Goodman, Selina; Davidson, Rosemarie; Murday, Murday; Bradshaw, Nicola; Snadden, Lesley; Longmuir, Mark; Watt, Catherine; Izatt, Louise; Pichert, Gabriella; Langman, Caroline; Dorkins, Huw; Barwell, Julian; Chu, Carol; Bishop, Tim; Miller, Julie; Ellis, Ian; Evans, D. Gareth; Lalloo, Fiona; Holt, Felicity; Male, Alison; Robinson, Anne; Gardiner, Carol; Douglas, Fiona; Claber, Oonagh; Walker, Lisa; Durell, Sarah; Eeles, Ros; Shanley, Susan; Rahman, Nazneen; Houlston, Richard; Bancrof, Elizabeth; D'Mello, Lucia; Page, Elizabeth; Ardern-Jones, Audrey; Mitra, Anita; Wiggins, Jennifer; Castro, Elena; Cook, Jackie; Quarrell, Oliver; Bardsley, Cathryn; Hodgson, Shirley; Goff, Sheila; Brice, Glen; Winchester, Lizzie; Eccles, Diana; Lucassen, Anneke; Crawford, Gillian; Tyler, Emma; McBride, Donna; Sinilnikova, Olga; Barjhoux, Laure; Giraud, Sophie; Léone, Mélanie; Mazoyer, Sylvie; Stoppa-Lyonnet, Dominique; Gauthier-Villars, Marion; Houdayer, Claude; Moncoutier, Virginie; Belotti, Muriel; de Pauw, Antoine; Bressac-de-Paillerets, Brigitte; Remenieras, Audrey; Byrde, Véronique; Caron, Olivier; Lenoir, Gilbert; Bignon, Yves-Jean; Uhrhammer, Nancy; Lasset, Christine; Bonadona, Valérie; Hardouin, Agnès; Berthet, Pascaline; Bourdon, Violaine; Eisinger, François; Coulet, Florence; Colas, Chrystelle; Soubrier, Florent; Coupier, Isabelle; Peyrat, Jean-Philippe; Fournier, Joëlle; Révillion, Françoise; Vennin, Philippe; Adenis, Claude; Rouleau, Etienne; Lidereau, Rosette; Demange, Liliane; Nogues, Catherine; Muller, Danièle; Fricker, Jean-Pierre; Longy, Michel; Sevenet, Nicolas; Toulas, Christine; Guimbaud, Rosine; Gladieff, Laurence; Feillel, Viviane; Leroux, Dominique; Dreyfus, Hélène; Rebischung, Christine; Cassini, Cécile; Olivier-Faivre, Laurence; Prieur, Fabienne; Ferrer, Sandra Fert; Frénay, Marc; Lynch, Henry T.

    2009-01-01

    In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. We have genotyped rs744154 in

  14. Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    DEFF Research Database (Denmark)

    Mulligan, Anna Marie; Couch, Fergus J; Barrowdale, Daniel

    2011-01-01

    BRCA1 carriers, SNP rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele HR for ER-positive=1.35, 95%CI:1.17-1.56 vs HR=0.91, 95%CI:0.85-0.98 for ER-negative, P-heterogeneity=6.5e-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER...... in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumor. METHODS: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumor......, to assess the associations of twelve loci with breast cancer tumor characteristics. Associations were evaluated using a retrospective cohort approach. RESULTS: The results suggested stronger associations with ER-positive breast cancer than ER-negative for eleven loci in both BRCA1 and BRCA2 carriers. Among...

  15. Fish to meat intake ratio and cooking oils are associated with hepatitis C virus carriers with persistently normal alanine aminotransferase levels.

    Science.gov (United States)

    Otsuka, Momoka; Uchida, Yuki; Kawaguchi, Takumi; Taniguchi, Eitaro; Kawaguchi, Atsushi; Kitani, Shingo; Itou, Minoru; Oriishi, Tetsuharu; Kakuma, Tatsuyuki; Tanaka, Suiko; Yagi, Minoru; Sata, Michio

    2012-10-01

      Dietary habits are involved in the development of chronic inflammation; however, the impact of dietary profiles of hepatitis C virus carriers with persistently normal alanine transaminase levels (HCV-PNALT) remains unclear. The decision-tree algorithm is a data-mining statistical technique, which uncovers meaningful profiles of factors from a data collection. We aimed to investigate dietary profiles associated with HCV-PNALT using a decision-tree algorithm.   Twenty-seven HCV-PNALT and 41 patients with chronic hepatitis C were enrolled in this study. Dietary habit was assessed using a validated semiquantitative food frequency questionnaire. A decision-tree algorithm was created by dietary variables, and was evaluated by area under the receiver operating characteristic curve analysis (AUROC).   In multivariate analysis, fish to meat ratio, dairy product and cooking oils were identified as independent variables associated with HCV-PNALT. The decision-tree algorithm was created with two variables: a fish to meat ratio and cooking oils/ideal bodyweight. When subjects showed a fish to meat ratio of 1.24 or more, 68.8% of the subjects were HCV-PNALT. On the other hand, 11.5% of the subjects were HCV-PNALT when subjects showed a fish to meat ratio of less than 1.24 and cooking oil/ideal bodyweight of less than 0.23 g/kg. The difference in the proportion of HCV-PNALT between these groups are significant (odds ratio 16.87, 95% CI 3.40-83.67, P = 0.0005). Fivefold cross-validation of the decision-tree algorithm showed an AUROC of 0.6947 (95% CI 0.5656-0.8238, P = 0.0067).   The decision-tree algorithm disclosed that fish to meat ratio and cooking oil/ideal bodyweight were associated with HCV-PNALT. © 2012 The Japan Society of Hepatology.

  16. Personality traits in Huntington's disease: An exploratory study of gene expansion carriers and non-carriers.

    Science.gov (United States)

    Larsen, Ida Unmack; Mortensen, Erik Lykke; Vinther-Jensen, Tua; Nielsen, Jørgen Erik; Knudsen, Gitte Moos; Vogel, Asmus

    2016-12-01

    Huntington's disease (HD) is associated with risk for developing psychiatric symptoms. Vulnerability or resilience to psychiatric symptoms may be associated with personality traits. This exploratory study, aimed to investigate personality traits in a large cohort of HD carriers and at risk gene-expansion negative individuals (HD non-carriers), exploring whether carrying the HD gene or growing up in an HD family influences personality traits. Forty-seven HD carriers, Thirty-nine HD non-carriers, and 121 healthy controls answered the Danish version of the revised NEO personality inventory. Comparisons between HD carriers and HD non-carriers were mostly non-significant but the combined group of HD carriers and non-carriers showed significantly higher scores on the facets: "hostility," "assertiveness," and "activity" and on the trait "Conscientiousness" relative to controls, "Conscientiousness" have been associated with resilience to psychiatric symptoms. Twelve HD carriers and non-carriers were classified as depressed and showed significantly lower scores on "Extraversion" and "Conscientiousness" and significantly higher scores on "Neuroticism," which are associated with vulnerability to psychiatric symptoms. Our findings suggest that, there is no direct effect of the HD gene on personality traits, but that personality assessment may be relevant to use when identifying individuals from HD families who are vulnerable to develop psychiatric symptoms. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  17. Tax secretion from peripheral blood mononuclear cells and Tax detection in plasma of patients with human T-lymphotropic virus-type 1-associated myelopathy/tropical spastic paraparesis and asymptomatic carriers.

    Science.gov (United States)

    Medina, Fernando; Quintremil, Sebastián; Alberti, Carolina; Godoy, Fabián; Pando, María E; Bustamante, Andrés; Barriga, Andrés; Cartier, Luis; Puente, Javier; Tanaka, Yuetsu; Valenzuela, María A; Ramírez, Eugenio

    2016-03-01

    Human T-lymphotropic virus-type 1 (HTLV-1) is the etiologic agent of the neurologic disease HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Tax viral protein plays a critical role in viral pathogenesis. Previous studies suggested that extracellular Tax might involve cytokine-like extracellular effects. We evaluated Tax secretion in 18 h-ex vivo peripheral blood mononuclear cells (PBMCs) cultures from 15 HAM/TSP patients and 15 asymptomatic carriers. Futhermore, Tax plasma level was evaluated from other 12 HAM/TSP patients and 10 asymptomatic carriers. Proviral load and mRNA encoding Tax were quantified by PCR and real-time RT-PCR, respectively. Intracellular Tax in CD4(+)CD25(+) cells occurred in 100% and 86.7% of HAM/TSP patients and asymptomatic carriers, respectively. Percentage of CD4(+)CD25(+) Tax+, proviral load and mRNA encoding Tax were significantly higher in HAM/TSP patients. Western blot analyses showed higher secretion levels of ubiquitinated Tax in HAM/TSP patients than in asymptomatic carriers. In HTLV-1-infected subjects, Western blot of plasma Tax showed higher levels in HAM/TSP patients than in asymptomatic carriers, whereas no Tax was found in non-infected subjects. Immunoprecipitated plasma Tax resolved on SDS-PAGE gave two major bands of 57 and 48 kDa allowing identification of Tax and Ubiquitin peptides by mass spectrometry. Relative percentage of either CD4(+)CD25(+) Tax+ cells, or Tax protein released from PBMCs, or plasma Tax, correlates neither with tax mRNA nor with proviral load. This fact could be explained by a complex regulation of Tax expression. Tax secreted from PBMCs or present in plasma could potentially become a biomarker to distinguish between HAM/TSP patients and asymptomatic carriers. © 2015 Wiley Periodicals, Inc.

  18. Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.

    Directory of Open Access Journals (Sweden)

    Santiago Rodriguez

    2009-06-01

    Full Text Available Filaggrin is a major protein in the epidermis. Several mutations in the filaggrin gene (FLG have been associated with a number of conditions. Filaggrin is expressed in the tympanic membrane and could alter its mechanical properties, but the relationship between genetic variation in FLG and hearing has not yet been tested.We examined whether loss-of function mutations R501X and 2282del4 in the FLG gene affected hearing in children. Twenty eight hearing variables representing five different aspects of hearing at age nine years in 5,377 children from the Avon Longitudinal Study of Parents and Children (ALSPAC cohort were tested for association with these mutations. No evidence of association was found between R501X or 2282del4 (or overall FLG mutation carrier status and any of the hearing phenotypes analysed.In conclusion, carrier status for common filaggrin mutations does not affect hearing in children.

  19. Molecular cloning and characterization of the genes encoding an auxin efflux carrier and the auxin influx carriers associated with the adventitious root formation in mango (Mangifera indica L.) cotyledon segments.

    Science.gov (United States)

    Li, Yun-He; Zou, Ming-Hong; Feng, Bi-Hong; Huang, Xia; Zhang, Zhi; Sun, Guang-Ming

    2012-06-01

    Polar auxin transport (PAT) plays an important role in the adventitious root formation of mango cotyledon segments, but the molecular mechanism remains unclear. In this study, we cloned a gene encoding an auxin efflux carrier (designated as MiPIN1), and we cloned four genes encoding auxin influx carriers (designated as MiAUX1, MiAUX2, MiAUX3 and MiAUX4). The results of a phylogenetic tree analysis indicated that MiPIN1 and the MiAUXs belong to plant PIN and AUXs/LAXs groups. Quantitative real-time PCR indicated that the expression of MiPIN1 and the MiAUXs was lowest at 0 days but sharply increased on and after day 4. During the root formation in the mango cotyledon segments, the MiPIN1 expression in the distal cut surface (DCS) was always higher than the expression in the proximal cut surface (PCS) whereas the expression of the MiAUXs in the PCS was usually higher than in the DCS. This expression pattern might be result in the PAT from the DCS to the PCS, which is essential for the adventitious root formation in the PCS. Our previous study indicated that a pre-treatment of embryos with indole-3-butyric acid (IBA) significantly promoted adventitious rooting in PCS whereas a pre-treatment with 2,3,5-triiodobenzoic acid (TIBA) completely inhibited this rooting. In this study, however, IBA and TIBA pre-treatments slightly changed the expression of MiPIN1. In contrast, while the MiAUX3 and MiAUX4 expression levels were significantly up-regulated by the IBA pre-treatment, the expression levels were down-regulated by the TIBA pre-treatment. These findings imply that MiAUX3 and MiAUX4 are more sensitive to the IBA and TIBA treatments and that they might play important roles during adventitious root formation in mango cotyledon segments. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  20. Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers

    DEFF Research Database (Denmark)

    Jakubowska, A; Rozkrut, D; Antoniou, A

    2012-01-01

    The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or...

  1. Peptide-Carrier Conjugation

    DEFF Research Database (Denmark)

    Hansen, Paul Robert

    2015-01-01

    To produce antibodies against synthetic peptides it is necessary to couple them to a protein carrier. This chapter provides a nonspecialist overview of peptide-carrier conjugation. Furthermore, a protocol for coupling cysteine-containing peptides to bovine serum albumin is outlined....

  2. Air Carrier Traffic Statistics.

    Science.gov (United States)

    2013-11-01

    This report contains airline operating statistics for large certificated air carriers based on data reported to U.S. Department of Transportation (DOT) by carriers that hold a certificate issued under Section 401 of the Federal Aviation Act of 1958 a...

  3. Air Carrier Traffic Statistics.

    Science.gov (United States)

    2012-07-01

    This report contains airline operating statistics for large certificated air carriers based on data reported to U.S. Department of Transportation (DOT) by carriers that hold a certificate issued under Section 401 of the Federal Aviation Act of 1958 a...

  4. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

    DEFF Research Database (Denmark)

    Antoniou, Antonis C; Wang, Xianshu; Fredericksen, Zachary S

    2010-01-01

    diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P(trend) = 2.3 × 10¿¿ to P(trend) = 3.9 × 10¿7), two of which showed independent......Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer...... associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR...

  5. Association of 239Pu with lysosomes in rat, Syrian hamster, and Chinese hamster liver as studied by carrier-free electrophoresis and electron microscopic autoradiography with 241Pu

    International Nuclear Information System (INIS)

    Seidel, A.; Krueger, E.W.; Wiener, M.; Hotz, G.; Balani, M.; Thies, W.G.

    1985-01-01

    The binding of injected monomeric plutonium in the liver of rats, Syrian hamsters, and Chinese hamsters (species which show profound differences in their ability to eliminate 239 Pu from the liver) was investigated by carrier-free electrophoresis using 239 Pu and electron microscopic autoradiography with 241 Pu. These studies are part of a program designed to obtain a better understanding of the mechanisms of the clearance of transuranium elements from liver of different mammals and man. Between 4 and 9 days after nuclide injection, a clear correlation between the majority of the 239 Pu and lysosomal enzymes was observed when the mitochondrial-lysosomal (ML) fraction of the livers was analyzed by carrier-free electrophoresis. In the two hamster species, a second 239 Pu peak exists from the beginning and increases with time to comprise 50% of the total radioactivity at later times. During electron microscopic examination 4 days after 241 Pu injection, beta tracks were frequently observed over globular structures resembling dense bodies in Chinese hamster liver. They were also observed frequently over chromatin-rich portions of the cell nuclei. These results, together with those from previous density gradient studies, show that lysosomes are the primary deposition site for 239 Pu in the liver cytoplasm of these three rodent species. The hypothesis of a morphologic transformation of these lysosomes with time in hamster liver and of rapid bulk exocytosis of the lysosomes in rats are still possible explanations for the extreme differences in the elimination among the three species

  6. Do methicillin resistant staphylococcus (MRSA) carrier patients influence MRSA infection more than MRSA-carrier medical officers and MRSA-carrier family?

    Science.gov (United States)

    Dilogo, Ismail H; Arya, Abikara; Phedy; Loho, Tony

    2013-07-01

    to determine the rate of MRSA-carrier among patients, family members and health care providers, and the association between MRSA-carrier family members and health care providers on MRSA infection patient after orthopaedic surgery. this is a cross-sectional analytical study. Samples were taken consecutively during December 2010 to December 2011, consisting of postoperative patients infected with MRSA, attending family members, and the medical officers with history of contact with the patient. Swab culture were taken from nasal and axilla of all subjects. The incidence of MRSA infection, and MRSA-carrier on the patient, family members and medical officers were presented descriptively, while their association with MRSA infection was statistically tested using Fischer exact test. during the study period, there were 759 surgeries, with 4 (0.5%) patients were identified to have MRSA infection. Of these four cases, 48 subjects were enrolled. The rate of MRSA-carrier among patients, family and health care providers were 50%, 25% and 0% respectively. There were no significant association between MRSA and the rates of MRSA-carrier on the family member or health care providers. the incidence of MRSA infection, MRSA-carrier patient, MRSA-carrier health care providers, and family member carrier were 0.5%, 50%, 0%, and 25% respectively. No significant association found between MRSA-carrier on the family member or health care providers and MRSA infection patient. There were no MRSA infection found on the health care provider.

  7. Duchenne muscular dystrophy carriers

    International Nuclear Information System (INIS)

    Matsumura, K.; Nakano, I.

    1989-01-01

    By means of magnetic resonance imaging (MRI), the proton spin-lattice relaxation times (T1 values) of the skeletal muscles were measured in Duchenne muscular dystrophy (DMD) carriers and normal controls. The bound water fraction (BWF) was calculated from the T1 values obtained, according to the fast proton diffusion model. In the DMD carriers, T1 values of the gluteus maximus and quadriceps femoris muscles were significantly higher, and BWFs of these muscles were significantly lower than in normal control. Degenerative muscular changes accompanied by interstitial edema were presumed responsible for this abnormality. No correlation was observed between the muscle T1 and serum creatine kinase values. The present study showed that MRI could be a useful method for studying the dynamic state of water in both normal and pathological skeletal muscles. Its possible utility for DMD carrier detection was discussed briefly. (orig.)

  8. Asymmetric Carrier Random PWM

    DEFF Research Database (Denmark)

    Mathe, Laszlo; Lungeanu, Florin; Rasmussen, Peter Omand

    2010-01-01

    index. The flat motor current spectrum generates an acoustical noise close to the white noise, which may improve the acoustical performance of the drive. The new carrier wave is easy to implement digitally, without employing any external circuits. The modulation method can be used in open, as well...

  9. Willis H Carrier

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 17; Issue 2. Willis H. Carrier - Father of Air Conditioning. R V Simha. General Article Volume 17 Issue 2 February 2012 pp 117-138. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/reso/017/02/0117-0138 ...

  10. Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study

    DEFF Research Database (Denmark)

    Thyssen, J P; Ross-Hansen, K; Johansen, J D

    2012-01-01

    Background: Filaggrin metabolites act as osmolytes and are important for skin hydration. Carriers of filaggrin loss-of-function mutations have a higher prevalence of atopic dermatitis and dry skin. There is also evidence to suggest that filaggrin mutations increase the risk of hand eczema in atopic...... whether filaggrin loss-of-function mutations are associated with skin fissures on the hands and/or fingers in the general population. Design: Participants of a population based study were questioned about skin symptom and genotyped for filaggrin mutation, patch tested for nickel allergy and skin prick...... tested. Results: In an adjusted logistic regression analysis, filaggrin mutation status was significantly associated with fissured skin on the hands and/or fingers in adults (OR=1.93; CI95%=1.05-3.55) and a near significant negative interaction with atopic dermatitis (p=0.055), suggesting the effect...

  11. Sealed substrate carrier for electroplating

    Science.gov (United States)

    Ganti, Kalyana Bhargava [Fremont, CA

    2012-07-17

    One embodiment relates to a substrate carrier for use in electroplating a plurality of substrates. The substrate carrier includes a non-conductive carrier body on which the substrates are held, and conductive lines are embedded within the carrier body. A conductive bus bar is embedded into a top side of the carrier body and is conductively coupled to the conductive lines. A thermoplastic overmold covers a portion of the bus bar, and there is a plastic-to-plastic bond between the thermoplastic overmold and the non-conductive carrier body. Other embodiments, aspects and features are also disclosed.

  12. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, Edo M.; Ginjaar, Ieke B.; Bakker, Egbert; de Visser, Marianne

    2005-01-01

    Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in

  13. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    NARCIS (Netherlands)

    K.B. Kuchenbaecker (Karoline); S.L. Neuhausen (Susan); M. Robson (Mark); D. Barrowdale (Daniel); L. McGuffog (Lesley); A.M. Mulligan (Anna Marie); I.L. Andrulis (Irene); A.B. Spurdle (Amanda); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); C. Engel (Christoph); B. Wapenschmidt (Barbara); H. Nevanlinna (Heli); M. Thomassen (Mads); M.C. Southey (Melissa); P. Radice (Paolo); S.J. Ramus (Susan); S.M. Domchek (Susan); K.L. Nathanson (Katherine); A. Lee (Andrew); S. Healey (Sue); R. Nussbaum (Robert); R. Rebbeck (Timothy); B.K. Arun (Banu); M. James (Margaret); B.Y. Karlan (Beth); K.J. Lester (Kathryn); I. Cass (Ilana); M.B. Terry (Mary Beth); M.J. Daly (Mark); D. Goldgar (David); S.S. Buys (Saundra); R. Janavicius (Ramunas); L. Tihomirova (Laima); N. Tung (Nadine); C.M. Dorfling (Cecilia); E.J. van Rensburg (Elizabeth); L. Steele (Linda); T. v O Hansen (Thomas); B. Ejlertsen (Bent); A-M. Gerdes (Anne-Marie); F. Nielsen (Finn); J. Dennis (Joe); J.M. Cunningham (Julie); S. Hart (Stewart); S. Slager (Susan); A. Osorio (Ana); J. Benítez (Javier); M. Duran (Mercedes); J.N. Weitzel (Jeffrey); I. Tafur (Isaac); M. Hander (Mary); P. Peterlongo (Paolo); S. Manoukian (Siranoush); B. Peissel (Bernard); G. Roversi (Gaia); G. Scuvera (Giulietta); B. Bonnani (Bernardo); P. Mariani (Paolo); S. Volorio (Sara); R. Dolcetti (Riccardo); L. Varesco (Liliana); L. Papi (Laura); M.G. Tibiletti (Maria Grazia); G. Giannini (Giuseppe); F. Fostira (Florentia); I. Konstantopoulou (I.); J. Garber (Judy); U. Hamann (Ute); A. Donaldson (Alan); C. Brewer (Carole); C. Foo (Claire); D.G. Evans (Gareth); D. Frost (Debra); D. Eccles (Diana); F. Douglas (Fiona); A. Brady (A.); J. Cook (Jackie); M. Tischkowitz (Marc); L. Adlard; J. Barwell (Julian); K. Ong; L.J. Walker (Lisa); L. Izatt (Louise); L. Side (Lucy); M.J. Kennedy (John); M.T. Rogers (Mark); M.E. Porteous (Mary); P.J. Morrison (Patrick); R. Platte (Radka); R. Eeles (Ros); R. Davidson (Rosemarie); S. Hodgson (Shirley); S.D. Ellis (Steve); A.K. Godwin (Andrew); K. Rhiem (Kerstin); A. Meindl (Alfons); N. Ditsch (Nina); N. Arnold (Norbert); H. Plendl (Hansjoerg); D. Niederacher (Dieter); C. Sutter (Christian); D. Steinemann (Doris); N. Bogdanova-Markov (Nadja); K. Kast (Karin); R. Varon-Mateeva (Raymonda); S. Wang-Gohrke (Shan); P.A. Gehrig (Paola A.); B. Markiefka (Birgid); B. Buecher (Bruno); C. Lefol (Cédrick); D. Stoppa-Lyonnet (Dominique); E. Rouleau (Etienne); F. Prieur (Fabienne); F. Damiola (Francesca); L. Barjhoux (Laure); L. Faivre (Laurence); M. Longy (Michel); N. Sevenet (Nicolas); O. Sinilnikova (Olga); S. Mazoyer (Sylvie); V. Bonadona (Valérie); V. Caux-Moncoutier (Virginie); C. Isaacs (Claudine); T. Van Maerken (Tom); K.B.M. Claes (Kathleen B.M.); M. Piedmonte (Marion); L. Andrews (Lesley); J. Hays (John); G.C. Rodriguez (Gustavo); T. Caldes (Trinidad); M. de La Hoya (Miguel); S. Khan (Sofia); F.B.L. Hogervorst (Frans); C.M. Aalfs (Cora); J.L. de Lange (J.); E.J. Meijers-Heijboer (Hanne); A.H. van der Hout (Annemarie); J.T. Wijnen (Juul); K.E. van Roozendaal (Kees); A.R. Mensenkamp (Arjen); A.M.W. van den Ouweland (Ans); C.H.M. van Deurzen (Carolien); R.B. van der Luijt (Rob); E. Olah; O. Díez (Orland); C. Lazaro (Conxi); I. Blanco (Ignacio); A. Teulé (A.); M. Menéndez (Mireia); A. Jakubowska (Anna); J. Lubinski (Jan); C. Cybulski (Cezary); J. Gronwald (Jacek); K. Jaworska-Bieniek (Katarzyna); K. Durda (Katarzyna); A. Arason (Adalgeir); C. Maugard; P. Soucy (Penny); M. Montagna (Marco); S. Agata (Simona); P.J. Teixeira; C. Olswold (Curtis); N.M. Lindor (Noralane); V.S. Pankratz (Shane); B. Hallberg (Boubou); X. Wang (Xianshu); C. Szabo (Csilla); J. Vijai (Joseph); L. Jacobs (Lauren); M. Corines (Marina); A. Lincoln (Anne); A. Berger (Andreas); A. Fink-Retter (Anneliese); C.F. Singer (Christian); C. Rappaport (Christine); D.G. Kaulich (Daphne Gschwantler); G. Pfeiler (Georg); M.-K. Tea; C. Phelan (Catherine); P.L. Mai (Phuong); M.H. Greene (Mark); G. Rennert (Gad); E.N. Imyanitov (Evgeny); G. Glendon (Gord); A.E. Toland (Amanda); A. Bojesen (Anders); I.S. Pedersen (Inge Sokilde); U.B. Jensen; M.A. Caligo (Maria); E. Friedman (Eitan); R. Berger (Raanan); Y. Laitman (Yael); J. Rantala (Johanna); B. Arver (Brita Wasteson); N. Loman (Niklas); Å. Borg (Åke); H. Ehrencrona (Hans); O.I. Olopade (Olofunmilayo); J. Simard (Jacques); D.F. Easton (Douglas); G. Chenevix-Trench (Georgia); K. Offit (Kenneth); F.J. Couch (Fergus); A.C. Antoniou (Antonis C.); CIMBA; EMBRACE Study; Breast Cancer Family; GEMO Study Collaborators; HEBON; KConFab Investigators

    2014-01-01

    textabstractIntroduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2

  14. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    NARCIS (Netherlands)

    Kuchenbaecker, Karoline B.; Neuhausen, Susan L.; Robson, Mark; Barrowdale, Daniel; McGuffog, Lesley; Mulligan, Anna Marie; Andrulis, Irene L.; Spurdle, Amanda B.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Engel, Christoph; Wappenschmidt, Barbara; Nevanlinna, Heli; Thomassen, Mads; Southey, Melissa; Radice, Paolo; Ramus, Susan J.; Domchek, Susan M.; Nathanson, Katherine L.; Lee, Andrew; Healey, Sue; Nussbaum, Robert L.; Rebbeck, Timothy R.; Arun, Banu K.; James, Paul; Karlan, Beth Y.; Lester, Jenny; Cass, Ilana; Terry, Mary Beth; Daly, Mary B.; Goldgar, David E.; Buys, Saundra S.; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia M.; van Rensburg, Elizabeth J.; Steele, Linda; v O Hansen, Thomas; Ejlertsen, Bent; Gerdes, Anne-Marie; Nielsen, Finn C.; Dennis, Joe; Cunningham, Julie; Hart, Steven; Slager, Susan; Osorio, Ana; Benitez, Javier; Duran, Mercedes; Weitzel, Jeffrey N.; Tafur, Isaac; Hander, Mary; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Roversi, Gaia; Scuvera, Giulietta; Bonanni, Bernardo; Mariani, Paolo; Volorio, Sara; Dolcetti, Riccardo; Varesco, Liliana; Papi, Laura; Tibiletti, Maria Grazia; Giannini, Giuseppe; Fostira, Florentia; Konstantopoulou, Irene; Garber, Judy; Hamann, Ute; Donaldson, Alan; Brewer, Carole; Foo, Claire; Evans, D. Gareth; Frost, Debra; Eccles, Diana; Douglas, Fiona; Brady, Angela; Cook, Jackie; Tischkowitz, Marc; Adlard, Julian; Barwell, Julian; Ong, Kai-Ren; Walker, Lisa; Izatt, Louise; Side, Lucy E.; Kennedy, M. John; Rogers, Mark T.; Porteous, Mary E.; Morrison, Patrick J.; Platte, Radka; Eeles, Ros; Davidson, Rosemarie; Hodgson, Shirley; Ellis, Steve; Godwin, Andrew K.; Rhiem, Kerstin; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Plendl, Hansjoerg; Niederacher, Dieter; Sutter, Christian; Steinemann, Doris; Bogdanova-Markov, Nadja; Kast, Karin; Varon-Mateeva, Raymonda; Wang-Gohrke, Shan; Gehrig, Andrea; Markiefka, Birgid; Buecher, Bruno; Lefol, Cédrick; Stoppa-Lyonnet, Dominique; Rouleau, Etienne; Prieur, Fabienne; Damiola, Francesca; Barjhoux, Laure; Faivre, Laurence; Longy, Michel; Sevenet, Nicolas; Sinilnikova, Olga M.; Mazoyer, Sylvie; Bonadona, Valérie; Caux-Moncoutier, Virginie; Isaacs, Claudine; van Maerken, Tom; Claes, Kathleen; Piedmonte, Marion; Andrews, Lesley; Hays, John; Rodriguez, Gustavo C.; Caldes, Trinidad; de la Hoya, Miguel; Khan, Sofia; Hogervorst, Frans B. L.; Aalfs, Cora M.; de Lange, J. L.; Meijers-Heijboer, Hanne E. J.; van der Hout, Annemarie H.; Wijnen, Juul T.; van Roozendaal, K. E. P.; Mensenkamp, Arjen R.; van den Ouweland, Ans M. W.; van Deurzen, Carolien H. M.; van der Luijt, Rob B.; Olah, Edith; Diez, Orland; Lazaro, Conxi; Blanco, Ignacio; Teulé, Alex; Menendez, Mireia; Jakubowska, Anna; Lubinski, Jan; Cybulski, Cezary; Gronwald, Jacek; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Arason, Adalgeir; Maugard, Christine; Soucy, Penny; Montagna, Marco; Agata, Simona; Teixeira, Manuel R.; Olswold, Curtis; Lindor, Noralane; Pankratz, Vernon S.; Hallberg, Emily; Wang, Xianshu; Szabo, Csilla I.; Vijai, Joseph; Jacobs, Lauren; Corines, Marina; Lincoln, Anne; Berger, Andreas; Fink-Retter, Anneliese; Singer, Christian F.; Rappaport, Christine; Kaulich, Daphne Gschwantler; Pfeiler, Georg; tea, Muy-Kheng; Phelan, Catherine M.; Mai, Phuong L.; Greene, Mark H.; Rennert, Gad; Imyanitov, Evgeny N.; Glendon, Gord; Toland, Amanda Ewart; Bojesen, Anders; Pedersen, Inge Sokilde; Jensen, Uffe Birk; Caligo, Maria A.; Friedman, Eitan; Berger, Raanan; Laitman, Yael; Rantala, Johanna; Arver, Brita; Loman, Niklas; Borg, Ake; Ehrencrona, Hans; Olopade, Olufunmilayo I.; Simard, Jacques; Easton, Douglas F.; Chenevix-Trench, Georgia; Offit, Kenneth; Couch, Fergus J.; Antoniou, Antonis C.; Perkins, Jo; Miedzybrodzka, Zosia; Gregory, Helen; Morrison, Patrick; Jeffers, Lisa; Cole, Trevor; Hoffman, Jonathan; James, Margaret; Paterson, Joan; Downing, Sarah; Taylor, Amy; Murray, Alexandra; McCann, Emma; Barton, David; Porteous, Mary; Drummond, Sarah; Kivuva, Emma; Searle, Anne; Goodman, Selina; Hill, Kathryn; Murday, Victoria; Bradshaw, Nicola; Snadden, Lesley; Longmuir, Mark; Watt, Catherine; Gibson, Sarah; Haque, Eshika; Tobias, Ed; Duncan, Alexis; Jacobs, Chris; Langman, Caroline; Dorkins, Huw; Serra-Feliu, Gemma; Ellis, Ian; Lalloo, Fiona; Taylor, Jane; Side, Lucy; Male, Alison; Berlin, Cheryl; Eason, Jacqueline; Collier, Rebecca; Claber, Oonagh; Jobson, Irene; McLeod, Diane; Halliday, Dorothy; Durell, Sarah; Stayner, Barbara; Shanley, Susan; Rahman, Nazneen; Houlston, Richard; Bancroft, Elizabeth; Page, Elizabeth; Ardern-Jones, Audrey; Kohut, Kelly; Wiggins, Jennifer; Castro, Elena; Mitra, Anita; Quarrell, Oliver; Bardsley, Cathryn; Goff, Sheila; Brice, Glen; Winchester, Lizzie; Eddy, Charlotte; Tripathi, Vishakha; Attard, Virginia; Lucassen, Anneke; Crawford, Gillian; McBride, Donna; Smalley, Sarah; Weaver, Joellen; Bove, Betsy; Sinilnikova, Olga; Verny-Pierre, Carole; Calender, Alain; Giraud, Sophie; Léone, Mélanie; Gauthier-Villars, Marion; Houdayer, Claude; Moncoutier, Virginie; Belotti, Muriel; Tirapo, Carole; de Pauw, Antoine; Bressac-de-Paillerets, Brigitte; Caron, Olivier; Bignon, Yves-Jean; Uhrhammer, Nancy; Lasset, Christine; Handallo, Sandrine; Hardouin, Agnès; Berthet, Pascaline; Sobol, Hagay; Bourdon, Violaine; Noguchi, Tetsuro; Remenieras, Audrey; Eisinger, François; Coupier, Isabelle; Pujol, Pascal; Peyrat, Jean-Philippe; Fournier, Joëlle; Révillion, Françoise; Vennin, Philippe; Adenis, Claude; Lidereau, Rosette; Demange, Liliane; Nogues, Catherine; Muller, Danièle; Fricker, Jean-Pierre; Barouk-Simonet, Emmanuelle; Bonnet, Françoise; Bubien, Virginie; Toulas, Christine; Guimbaud, Rosine; Gladieff, Laurence; Feillel, Viviane; Leroux, Dominique; Dreyfus, Hélène; Rebischung, Christine; Peysselon, Magalie; Coron, Fanny; Lebrun, Marine; Kientz, Caroline; Ferrer, Sandra Fert; Frénay, Marc; Vénat-Bouvet, Laurence; Delnatte, Capucine; Mortemousque, Isabelle; Coulet, Florence; Colas, Chrystelle; Soubrier, Florent; Sokolowska, Johanna; Bronner, Myriam; Collonge-Rame, Marie-Agnès; Damette, Alexandre; Lynch, Henry T.; Snyder, Carrie L.; Coene, Ilse; Crombez, Brecht; Segura, Pedro Perez; Romero, Atocha; Diaque, Paula; Aittomäki, Kristiina; Blomqvist, Carl; Aaltonen, Kirsimari; Muranen, Taru A.; Erkkilä, Irja; Palola, Virpi; Rookus, M. A.; Hogervorst, F. B. L.; van Leeuwen, F. E.; Verhoef, S.; Schmidt, M. K.; Wijnands, R.; Collée, J. M.; van den Ouweland, A. M. W.; Hooning, M. J.; Seynaeve, C.; van Deurzen, C. H. M.; Obdeijn, I. M.; van Asperen, C. J.; Wijnen, J. T.; Tollenaar, R. A. E. M.; Devilee, P.; van Cronenburg, T. C. T. E. F.; Kets, C. M.; Mensenkamp, A. R.; Ausems, M. G. E. M.; van der Luijt, R. B.; van Os, T. A. M.; Gille, J. J. P.; Waisfisz, Q.; Gómez-Garcia, E. B.; Blok, M. J.; Oosterwijk, J. C.; van der Hout, A. H.; Mourits, M. J.; de Bock, G. H.; Vasen, H. F.; Siesling, S.; Overbeek, L. I. H.; Papp, Janos; Vaszko, Tibor; Bozsik, Aniko; Pocza, Timea; Franko, Judit; Balogh, Maria; Domokos, Gabriella; Ferenczi, Judit; Balmaña, J.; Capella, Gabriel; Dumont, Martine; Tranchant, Martine

    2014-01-01

    Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation

  15. Motor carrier evaluation program

    International Nuclear Information System (INIS)

    Portsmouth, James

    1992-01-01

    The U.S. Department of Energy-Headquarters (DOE-HQ), Transportation Management Program (TMP) has the overall responsibility to provide a well-managed transportation program for the safe, efficient, and economical transportation of DOE-owned materials. The DOE-TMP has established an excellent safety record in the transportation of hazardous materials including radioactive materials and radioactive wastes. This safety record can be maintained only through continued diligence and sustained effort on the part of the DOE-TMP, its field offices, and the contractors' organizations. Key elements in the DOE'S effective hazardous and radioactive materials shipping program are (1) integrity of packages, (2) strict adherence to regulations and procedures, (3) trained personnel, (4) complete management support, and (5) use of the best commercial carriers. The DOE Motor Carrier Evaluation Program was developed to better define the criteria and methodology needed to identify motor carriers for use in the transportation of Highway Route Controlled Quantities (HRCQ), Truck Load (TL) quantities of radioactive materials, hazardous materials and waste. (author)

  16. Carrier transport uphill. I. General

    DEFF Research Database (Denmark)

    Rosenberg, T; Wilbrandt, W

    1963-01-01

    A quantitative treatment of a carrier pump operating with two carrier forms C and Z is presented. Asymmetric metabolic reactions are assumed to transform Z into C on one and C into Z on the other side of the membrane, establishing a carrier cycle. The kinetical consequences of this mechanism...

  17. Maintainable substrate carrier for electroplating

    Science.gov (United States)

    Chen, Chen-An [Milpitas, CA; Abas, Emmanuel Chua [Laguna, PH; Divino, Edmundo Anida [Cavite, PH; Ermita, Jake Randal G [Laguna, PH; Capulong, Jose Francisco S [Laguna, PH; Castillo, Arnold Villamor [Batangas, PH; Ma,; Xiaobing, Diana [Saratoga, CA

    2012-07-17

    One embodiment relates to a substrate carrier for use in electroplating a plurality of substrates. The carrier includes a non-conductive carrier body on which the substrates are placed and conductive lines embedded within the carrier body. A plurality of conductive clip attachment parts are attached in a permanent manner to the conductive lines embedded within the carrier body. A plurality of contact clips are attached in a removable manner to the clip attachment parts. The contact clips hold the substrates in place and conductively connecting the substrates with the conductive lines. Other embodiments, aspects and features are also disclosed.

  18. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Blein, Sophie; Bardel, Claire; Danjean, Vincent

    2015-01-01

    of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected......, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. CONCLUSIONS: This study illustrates how...... original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects....

  19. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Antoniou, Antonis C; Kartsonaki, Christiana; Sinilnikova, Olga M

    2011-01-01

    Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs...

  20. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Antoniou, Antonis C; Kartsonaki, Christiana; Sinilnikova, Olga M

    2011-01-01

    Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs...... to a better understanding of the biology of tumour development in these women....

  1. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    NARCIS (Netherlands)

    A.C. Antoniou (Antonis); C. Kartsonaki (Christiana); O. Sinilnikova (Olga); P. Soucy (Penny); L. McGuffog (Lesley); S. Healey (Sue); A. Lee (Andrew); P. Peterlongo (Paolo); S. Manoukian (Siranoush); B. Peissel (Bernard); D. Zaffaroni (D.); E. Cattaneo (Elisa); M. Barile (Monica); V. Pensotti (Valeria); B. Pasini (Barbara); R. Dolcetti (Riccardo); G. Giannini (Giuseppe); A.L. Putignano; L. Varesco (Liliana); P. Radice (Paolo); P.L. Mai (Phuong); M.H. Greene (Mark); I.L. Andrulis (Irene); G. Glendon (Gord); H. Ozcelik (Hilmi); M. Thomassen (Mads); A-M. Gerdes (Anne-Marie); T.A. Kruse (Torben); U.B. Jensen; D. Cruger (Dorthe); M.A. Caligo (Maria); Y. Laitman (Yael); R. Milgrom (Roni); B. Kaufman (Bella); S. Paluch-Shimon (Shani); E. Friedman (Eitan); N. Loman (Niklas); K. Harbst (Katja); A. Lindblom (Annika); B. Melin (Beatrice); K.L. Nathanson (Katherine); S.M. Domchek (Susan); R. Rebbeck (Timothy); A. Jakubowska (Anna); J. Lubinski (Jan); J. Gronwald (Jacek); T. Huzarski (Tomasz); T. Byrski (Tomasz); C. Cybulski (Cezary); B. Górski (Bohdan); A. Osorio (Ana); T.R. Cajal; F. Fostira (Florentia); R. Andres (Raquel); J. Benitez (Javier); U. Hamann (Ute); F.B.L. Hogervorst (Frans); M.A. Rookus (Matti); M.J. Hooning (Maartje); M.R. Nelen (Marcel); R.B. van der Luijt (Rob); T.A.M. van Os (Theo); C.J. van Asperen (Christi); P. Devilee (Peter); H. Meijers-Heijboer (Hanne); E.B.G. Garcia; S. Peock (Susan); M. Cook (Margaret); D. Frost; R. Platte (Radka); J. Leyland (Jean); D.G. Evans (Gareth); F. Lalloo (Fiona); R. Eeles (Rosalind); L. Izatt (Louise); R. Davidson (Rosemarie); D. Eccles (Diana); K.-R. Ong; F. Douglas (Fiona); J. Paterson (Joan); M.J. Kennedy (John); Z. Miedzybrodzka (Zosia); A.K. Godwin (Andrew); D. Stoppa-Lyonnet (Dominique); B. Buecher (Bruno); M. Belotti (Muriel); C. Tirapo (Carole); S. Mazoyer (Sylvie); L. Barjhoux (Laure); C. Lasset (Christine); D. Leroux (Dominique); L. Faivre (Laurence); M. Bronner (Myriam); F. Prieur (Fabienne); C. Nogues (Catherine); E. Rouleau (Etienne); P. Pujol (Pascal); I. Coupier (Isabelle); M. Frenay (Marc); J. Hopper (John); M.J. Daly (Mark); M-B. Terry (Mary-beth); E.M. John (Esther); S.S. Buys (Saundra); Y. Yassin (Yosuf); A. Miron (Alexander); D. Goldgar (David); C.F. Singer (Christian); M.-K. Tea; G. Pfeiler (Georg); C. Dressler (Catherina); T.V.O. Hansen (Thomas); L. Jønson (Lars); B. Ejlertsen (Bent); R.B. Barkardottir (Rosa); T. Kircchoff (Tomas); K. Offit (Kenneth); M. Piedmonte (Marion); G.C. Rodriguez (Gustavo); L. Small (Laurie); J.F. Boggess (John); S.V. Blank (Stephanie); J. Basil (Jack); M. Azodi (Masoud); A.E. Toland (Amanda); M. Montagna (Marco); S. Tognazzo (Silvia); S. Agata (Simona); E.N. Imyanitov (Evgeny); R. Janavicius (Ramunas); C. Lazaro (Conxi); I. Blanco (Ignacio); P.D.P. Pharoah (Paul); L. Sucheston (Lara); B.Y. Karlan (Beth); C.S. Walsh (Christine); E. Olah (Edith); A. Bozsik (Aniko); S.-H. Teo (Soo-Hwang); J.L. Seldon (Joyce); M.S. Beattie (Mary); E.J. van Rensburg (Elizabeth); M.D. Sluiter (Michelle); O. Diez (Orland); R.K. Schmutzler (Rita); B. Wapenschmidt (Barbara); C. Engel (Christoph); A. Meindl (Alfons); I. Ruehl (Ina); R. Varon-Mateeva (Raymonda); K. Kast (Karin); H. Deissler (Helmut); D. Niederacher (Dieter); N. Arnold (Norbert); D. Gadzicki (Dorothea); I. Schönbuchner (Ines); T. Caldes (Trinidad); M. de La Hoya (Miguel); H. Nevanlinna (Heli); K. Aittomäki (Kristiina); M. Dumont (Martine); J. Chiquette (Jocelyne); M. Tischkowitz (Marc); G. Chenevix-Trench (Georgia); J. Beesley (Jonathan); A.B. Spurdle (Amanda); S.L. Neuhausen (Susan); Y.C. Ding (Yuan); Z. Fredericksen (Zachary); X. Wang (Xing); V.S. Pankratz (Shane); F.J. Couch (Fergus); J. Simard (Jacques); D.F. Easton (Douglas); G. Chenevix-Trench (Georgia); P. Karlsson (Per); M. Nordling (Margareta); A. Bergman (Annika); Z. Einbeigi (Zakaria); M. Stenmark-Askmalm (M.); S. Liedgren (Sigrun); Å. Borg (Åke); H. Olsson (Hans); U. Kristoffersson (Ulf); H. Jernström (H.); K. Henriksson (Karin); A. von Wachenfeldt (Anna); A. Liljegren (Annelie); G. Barbany-Bustinza (Gisela); J. Rantala (Johanna); H. Grönberg (Henrik); E.-L. Stattin; M. Emanuelsson (Monica); R.R. Brandell; N. Dahl (Niklas); S. Verhoef; M. Verheus (Martijn); L.J. van 't Veer (Laura); F.E. van Leeuwen; J.M. Collée (Margriet); A.M.W. van den Ouweland (Ans); A. Jager (Agnes); M.M.A. Tilanus-Linthorst (Madeleine); C.M. Seynaeve (Caroline); J.T. Wijnen (Juul); M.P. Vreeswijk (Maaike); R.A.E.M. Tollenaar (Rob); M.J. Ligtenberg (Marjolijn); N. Hoogerbrugge (Nicoline); M.G.E.M. Ausems (Margreet); C.M. Aalfs (Cora); J.J.P. Gille (Jan); Q. Waisfisz (Quinten); E.B. Gómez García (Encarna); C.E. van Roozendaal (Cees); M.J. Blok (Marinus); B. Caanen; J.C. Oosterwijk; A.H. van der Hout (Annemarie); M.J. Mourits; H.F. Vasen (Hans); H. Gregory (Helen); P.J. Morrison (Patrick); L. Jeffers (Lisa); T.J. Cole (Trevor); C. McKeown (Carole); J. Hoffman (Jonathan); A. Donaldson (Alan); S. Downing (Sarah); A. Taylor (Amy); A. Murray (Alexandra); M.T. Rogers (Mark); E. McCann (Emma); M.E. Porteous (Mary); S. Drummond (Sarah); C. Brewer (Carole); E. Kivuva (Emma); A. Searle (Anne); S. Goodman (Selina); K. Hill (Kathryn); V. Murday (Victoria); N. Bradshaw (Nicola); L. Snadden (Lesley); M. Longmuir (Mark); C. Watt (Catherine); S. Gibson (Sarah); E. Haque (Eshika); E. Tobias (Ed); A. Duncan (Alexis); C. Jacobs (Chris); C. Langman (Caroline); A. Whaite (Anna); H. Dorkins (Huw); J. Barwell (Julian); C. Chu (Chengbin); J. Miller (Julie); I.O. Ellis (Ian); C. Houghton (Catherine); L. Side (Lucy); A. Male (Alison); C. Berlin (Cheryl); J. Eason (Jacqueline); R. Collier (Rebecca); O. Claber (Oonagh); I. Jobson (Irene); L.J. Walker (Lisa); D. McLeod (Diane); D. Halliday (Dorothy); S. Durell (Sarah); B. Stayner (Barbara); S. Shanley (Susan); N. Rahman (Nazneen); R. Houlston (Richard); E.K. Bancroft (Elizabeth); L. D'Mello (Lucia); E. Page (Elizabeth); A. Ardern-Jones (Audrey); K. Kohut (Kelly); J. Wiggins (Jennifer); E. Castro (Elena); A. Mitra (Anita); L. Robertson (Lisa); O. Quarrell (Oliver); C. Bardsley (Cathryn); H. Ehrencrona (Hans); S.V. Hodgson (Shirley); D.E. Barton (David); S. Goff (Sheila); G. Brice (Glen); L. Winchester (Lizzie); C. Eddy (Charlotte); V. Tripathi (Vishakha); V. Attard (Virginia); A. Lucassen (Anneke); G. Crawford (Gillian); D. McBride (Donna); S. Smalley (Sarah); J.W. Adlard (Julian); B. Arver (Brita Wasteson)

    2011-01-01

    textabstractTwo single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility

  2. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    NARCIS (Netherlands)

    Antoniou, Antonis C.; Kartsonaki, Christiana; Sinilnikova, Olga M.; Soucy, Penny; McGuffog, Lesley; Healey, Sue; Lee, Andrew; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Cattaneo, Elisa; Barile, Monica; Pensotti, Valeria; Pasini, Barbara; Dolcetti, Riccardo; Giannini, Giuseppe; Putignano, Anna Laura; Varesco, Liliana; Radice, Paolo; Mai, Phuong L.; Greene, Mark H.; Andrulis, Irene L.; Glendon, Gord; Ozcelik, Hilmi; Thomassen, Mads; Gerdes, Anne-Marie; Kruse, Torben A.; Birk Jensen, Uffe; Crüger, Dorthe G.; Caligo, Maria A.; Laitman, Yael; Milgrom, Roni; Kaufman, Bella; Paluch-Shimon, Shani; Friedman, Eitan; Loman, Niklas; Harbst, Katja; Lindblom, Annika; Arver, Brita; Ehrencrona, Hans; Melin, Beatrice; Nathanson, Katherine L.; Domchek, Susan M.; Rebbeck, Timothy; Jakubowska, Ania; Lubinski, Jan; van Os, Theo A. M.; Meijers-Heijboer, Hanne E. J.; Aalfs, C. M.

    2011-01-01

    Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants:

  3. Hydrocortisone fails to abolish NF-κB1 protein nuclear translocation in deletion allele carriers of the NFKB1 promoter polymorphism (-94ins/delATTG and is associated with increased 30-day mortality in septic shock.

    Directory of Open Access Journals (Sweden)

    Simon T Schäfer

    carriers of the NFKB1 promoter polymorphism (-94ins/delATTG. In septic shock, hydrocortisone treatment is associated with markedly increased 30-day-mortality only in such carriers. Accordingly, previous heterogeneous results regarding the benefit of hydrocortisone in septic shock may be reconciled by genetic variation of the NFKB1 promoter polymorphism.

  4. Hydrocortisone Fails to Abolish NF-κB1 Protein Nuclear Translocation in Deletion Allele Carriers of the NFKB1 Promoter Polymorphism (-94ins/delATTG) and Is Associated with Increased 30-Day Mortality in Septic Shock

    Science.gov (United States)

    Schäfer, Simon T.; Gessner, Sophia; Scherag, André; Rump, Katharina; Frey, Ulrich H.; Siffert, Winfried; Westendorf, Astrid M.; Steinmann, Jörg; Peters, Jürgen; Adamzik, Michael

    2014-01-01

    NFKB1 promoter polymorphism (-94ins/delATTG). In septic shock, hydrocortisone treatment is associated with markedly increased 30-day-mortality only in such carriers. Accordingly, previous heterogeneous results regarding the benefit of hydrocortisone in septic shock may be reconciled by genetic variation of the NFKB1 promoter polymorphism. PMID:25133403

  5. Autonomous component carrier selection

    DEFF Research Database (Denmark)

    Garcia, Luis Guilherme Uzeda; Pedersen, Klaus; Mogensen, Preben

    2009-01-01

    management and efficient system operation. Due to the expected large number of user-deployed cells, centralized network planning becomes unpractical and new scalable alternatives must be sought. In this article, we propose a fully distributed and scalable solution to the interference management problem...... in local areas, basing our study case on LTE-Advanced. We present extensive network simulation results to demonstrate that a simple and robust interference management scheme, called autonomous component carrier selection allows each cell to select the most attractive frequency configuration; improving...... the experience of all users and not just the few best ones; while overall cell capacity is not compromised....

  6. The Effect of Turmeric (Curcuma longa Extract on the Functionality of the Solute Carrier Protein 22 A4 (SLC22A4 and Interleukin-10 (IL-10 Variants Associated with Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Mark J. McCann

    2014-10-01

    Full Text Available Inflammatory bowel disease (IBD is a chronic relapsing disease. Genetic predisposition to the disease reduces an individual’s capacity to respond appropriately to environmental challenges in the intestine leading to inappropriate inflammation. IBD patients often modify their diet to mitigate or reduce the severity of inflammation. Turmeric (Curcuma longa L., Zingiberaceae has historically been used in Chinese, Hindu, and Ayurvedic medicine over several centuries to treat inflammatory disorders. To understand how turmeric may influence the consequences of a genetic predisposition to inappropriate inflammation, we used HEK293 cells to examine the in vitro capacity of turmeric extract and fractions to affect the functionality of two gene variants, solute carrier protein 22 A4 (SLC22A4, rs1050152 and interleukin-10 (IL-10, rs1800896 associated with IBD. We found that a turmeric extract and several chromatographically separated fractions beneficially affected the variants of SLC22A4 and IL-10 associated with IBD, by reducing inappropriate epithelial cell transport (SLC22A4, 503F and increasing anti-inflammatory cytokine gene promoter activity (IL-10, −1082A. The effect of turmeric on the IL-10 variant was strongly associated with the curcumin content of the extract and its fractions.

  7. The effect of turmeric (Curcuma longa) extract on the functionality of the solute carrier protein 22 A4 (SLC22A4) and interleukin-10 (IL-10) variants associated with inflammatory bowel disease.

    Science.gov (United States)

    McCann, Mark J; Johnston, Sarah; Reilly, Kerri; Men, Xuejing; Burgess, Elaine J; Perry, Nigel B; Roy, Nicole C

    2014-10-13

    Inflammatory bowel disease (IBD) is a chronic relapsing disease. Genetic predisposition to the disease reduces an individual's capacity to respond appropriately to environmental challenges in the intestine leading to inappropriate inflammation. IBD patients often modify their diet to mitigate or reduce the severity of inflammation. Turmeric (Curcuma longa L., Zingiberaceae) has historically been used in Chinese, Hindu, and Ayurvedic medicine over several centuries to treat inflammatory disorders. To understand how turmeric may influence the consequences of a genetic predisposition to inappropriate inflammation, we used HEK293 cells to examine the in vitro capacity of turmeric extract and fractions to affect the functionality of two gene variants, solute carrier protein 22 A4 (SLC22A4, rs1050152) and interleukin-10 (IL-10, rs1800896) associated with IBD. We found that a turmeric extract and several chromatographically separated fractions beneficially affected the variants of SLC22A4 and IL-10 associated with IBD, by reducing inappropriate epithelial cell transport (SLC22A4, 503F) and increasing anti-inflammatory cytokine gene promoter activity (IL-10, -1082A). The effect of turmeric on the IL-10 variant was strongly associated with the curcumin content of the extract and its fractions.

  8. Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

    Science.gov (United States)

    Lecarpentier, Julie; Noguès, Catherine; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Lasset, Christine; Fricker, Jean-Pierre; Caron, Olivier; Stoppa-Lyonnet, Dominique; Berthet, Pascaline; Faivre, Laurence; Bonadona, Valérie; Buecher, Bruno; Coupier, Isabelle; Gladieff, Laurence; Gesta, Paul; Eisinger, François; Frénay, Marc; Luporsi, Elisabeth; Lortholary, Alain; Colas, Chrystelle; Dugast, Catherine; Longy, Michel; Pujol, Pascal; Tinat, Julie; Lidereau, Rosette; Andrieu, Nadine

    2012-07-03

    Mutations in BRCA1 and BRCA2 confer a high risk of breast cancer (BC), but the magnitude of this risk seems to vary according to the study and various factors. Although controversial, there are data to support the hypothesis of allelic risk heterogeneity. We assessed variation in BC risk according to factors related to pregnancies by location of mutation in the homogeneous risk region of BRCA1 and BRCA2 in 990 women in the French study GENEPSO by using a weighted Cox regression model. Our results confirm the existence of the protective effect of an increasing number of full-term pregnancies (FTPs) toward BC among BRCA1 and BRCA2 mutation carriers (≥3 versus 0 FTPs: hazard ratio (HR) = 0.51, 95% confidence interval (CI) = 0.33 to 0.81). Additionally, the HR shows an association between incomplete pregnancies and a higher BC risk, which reached 2.39 (95% CI = 1.28 to 4.45) among women who had at least three incomplete pregnancies when compared with women with zero incomplete pregnancies. This increased risk appeared to be restricted to incomplete pregnancies occurring before the first FTP (HR = 1.77, 95% CI = 1.19 to 2.63). We defined the TMAP score (defined as the Time of Breast Mitotic Activity during Pregnancies) to take into account simultaneously the opposite effect of full-term and interrupted pregnancies. Compared with women with a TMAP score of less than 0.35, an increasing TMAP score was associated with a statistically significant increase in the risk of BC (P trend = 0.02) which reached 1.97 (95% CI = 1.19 to 3.29) for a TMAP score >0.5 (versus TMAP ≤0.35). All these results appeared to be similar in BRCA1 and BRCA2. Nevertheless, our results suggest a variation in BC risk associated with parity according to the location of the mutation in BRCA1. Indeed, parity seems to be associated with a significantly decreased risk of BC only among women with a mutation in the central region of BRCA1 (low-risk region) (≥1 versus 0 FTP: HR = 0.27, 95% CI = 0.13 to

  9. The association of reduced folate carrier 80G>A polymorphism to outcome in childhood acute lymphoblastic leukemia interacts with chromosome 21 copy number

    DEFF Research Database (Denmark)

    Gregers, Jannie; Christensen, Ib Jarle; Dalhoff, Kim

    2010-01-01

    with chromosome 21 copy number in the leukemic clone. A total of 500 children with acute lymphoblastic leukemia treated according to the common Nordic treatment protocols were included, and we found that the RFC AA variant was associated with a 50% better chance of staying in remission compared with GG or GA...... (platelet 73 vs 99/105 x 10(9)/L, P = .004, hemoglobin 5.6 vs 5.9/6.0 mmol/L, P = .004) and a higher degree of liver toxicity in patients with RFC GG variant (alanine aminotransferase 167 vs 127/124 U/L, P = .05). In conclusion, the RFC 80G>A polymorphism interacts with chromosome 21 copy numbers...

  10. LIQUIFIED NATURAL GAS (LNG CARRIERS

    Directory of Open Access Journals (Sweden)

    Daniel Posavec

    2010-12-01

    Full Text Available Modern liquefied natural gas carriers are double-bottom ships classified according to the type of LNG tank. The tanks are specially designed to store natural gas cooled to -161°C, the boiling point of methane. Since LNG is highly flammable, special care must be taken when designing and operating the ship. The development of LNG carriers has begun in the middle of the twentieth century. LNG carrier storage space has gradually grown to the current maximum of 260000 m3. There are more than 300 LNG carriers currently in operation (the paper is published in Croatian.

  11. Association of the C47T Polymorphism in SOD2 with Amnestic Mild Cognitive Impairment and Alzheimer’s Disease in Carriers of the APOEε4 Allele

    Directory of Open Access Journals (Sweden)

    David Gamarra

    2015-01-01

    Full Text Available Oxidative stress plays an important part in amnestic mild cognitive impairment (aMCI, the prodromal phase of Alzheimer’s disease (AD. Recent evidence shows that polymorphisms in the SOD2 gene affect the elimination of the reactive oxygen species (ROS generated in mitochondria. The aim of this study was to determine whether the functional rs4880 SNP in the SOD2 gene is a risk factor associated with aMCI and sporadic AD. 216 subjects with aMCI, 355 with AD, and 245 controls have been studied. The SNP rs4880 of the SOD2 gene was genotyped by RT-PCR and the APOE genotype was determined by PCR and RFLPs. Different multinomial logistic regression models were used to determine the risk levels for aMCI and AD. Although the T allele of the SOD2 rs4880 SNP gene (rs4880-T is not an independent risk for aMCI or AD, this allele increases the risk to aMCI patients carrying at least one APOEε4 allele. Moreover, rs4880-T allele and APOEε4 allele combination has been found to produce an increased risk for AD compared to aMCI reference patients. These results suggest that APOEε4 and rs4880-T genotype may be a risk for aMCI and a predictor of progression from aMCI to AD.

  12. Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers:

    DEFF Research Database (Denmark)

    Antoniou, Antonis C; Rookus, Matti; Andrieu, Nadine

    2009-01-01

    carriers seemed to be greater among more recent users. Tubal ligation was associated with a reduced risk of ovarian cancer for BRCA1 carriers (hazard ratio, 0.42; 95% confidence intervals, 0.22-0.80; P = 0.008). The number of ovarian cancer cases in BRCA2 mutation carriers was too small to draw definitive...

  13. The energy carrier hydrogen

    International Nuclear Information System (INIS)

    Anon.

    1992-01-01

    The potential of hydrogen to be used as a clean fuel for the production of heat and power, as well as for the propulsion of aeroplanes and vehicles, is described, in particular for Germany. First, attention is paid to the application of hydrogen as a basic material for the (petro)chemical industry, as an indirect energy source for (petro)chemical processes, and as a direct energy source for several purposes. Than the importance of hydrogen as an energy carrier in a large-scale application of renewable energy sources is discussed. Next an overview is given of new and old hydrogen production techniques from fossil fuels, biomass, or the electrolysis of water. Energetic applications of hydrogen in the transportation sector and the production of electric power and heat are mentioned. Brief descriptions are given of techniques to store hydrogen safely. Finally attention is paid to hydrogen research in Germany. Two hydrogen projects, in which Germany participates, are briefly dealt with: the Euro-Quebec project (production of hydrogen by means of hydropower), and the HYSOLAR project (hydrogen production by means of solar energy). 18 figs., 1 tab., 7 refs

  14. No differences in brain microstructure between young KIBRA-C carriers and non-carriers.

    Science.gov (United States)

    Hu, Li; Xu, Qunxing; Li, Jizhen; Wang, Feifei; Xu, Xinghua; Sun, Zhiyuan; Ma, Xiangxing; Liu, Yong; Wang, Qing; Wang, Dawei

    2018-01-02

    KIBRA rs17070145 polymorphism is associated with variations in memory function and the microstructure of related brain areas. Diffusion kurtosis imaging (DKI) as an extension of diffusion tensor imaging that can provide more information about changes in microstructure, based on the idea that water diffusion in biological tissues is heterogeneous due to structural hindrance and restriction. We used DKI to explore the relationship between KIBRA gene polymorphism and brain microstructure in young adults. We recruited 100 healthy young volunteers, including 53 TT carriers and 47 C allele carriers. No differences were detected between the TT homozygotes and C-allele carriers for any diffusion and kurtosis parameter. These results indicate KIBRA rs17070145 polymorphism likely has little or no effect on brain microstructure in young adults.

  15. Cosmogenic radionuclide carriers in the atmosphere

    International Nuclear Information System (INIS)

    Lujaniene, G.; Lujanas, V.

    1998-01-01

    The investigation of radionuclides ( 7 Be 32,33 P and 35 S) and stable sulfur and phosphorus forms was based on the Tessier sequential extraction method. The properties of radionuclide carriers can be transformed in the atmosphere in a very short time (days, hours), in contrast to soil and the hydrosphere. Oxidation processes proceeding in the atmosphere induce changes in the aerosol carrier properties. The aerosol can be characterized by low pH and high Eh values corresponding to high 7Be solubility. The unexpectedly high negative Eh values obtained in dry summer period indicate that the 7 Be 32,33 P aerosol is bound to insoluble carriers. 137 Cs solubility does not depend on changes in pH. This can be explained by the fact that in contrast to 7 Be, 137 Cs is associated with the exchangeable fraction. Cs ions can be replaced not only by H + but also by NH 4 + and other ions. 7 Be aerosols collected at the seaside of the Baltic sea (Preila) were found to be more soluble than those in Vilnius, their solubility was up to 50-90 % and clear dependence between 7 Be solubility, pH and Eh was not observed. It can be attributed to differences in the atmospheric aerosol composition (e.g. soluble chlorides) in Vilnius and Preila. A great variety of 7 Be carriers properties as well as their dependence on the season and the existence of admixtures in the atmosphere require great caution in applying this isotope in tracer investigations. Soluble carriers are removed faster from the atmosphere by precipitation. The significance of this fact is confirmed by the ratio of 7 Be/ 32 P in the air and precipitation. Both soluble and insoluble aerosols can be formed depending on the environmental conditions

  16. LIQUIFIED NATURAL GAS (LNG) CARRIERS

    OpenAIRE

    Daniel Posavec; Katarina Simon; Matija Malnar

    2010-01-01

    Modern liquefied natural gas carriers are double-bottom ships classified according to the type of LNG tank. The tanks are specially designed to store natural gas cooled to -161°C, the boiling point of methane. Since LNG is highly flammable, special care must be taken when designing and operating the ship. The development of LNG carriers has begun in the middle of the twentieth century. LNG carrier storage space has gradually grown to the current maximum of 260000 m3. There are more than 300 L...

  17. Impact of carriers in oral absorption

    DEFF Research Database (Denmark)

    Gram, Luise Kvisgaard; Rist, Gerda Marie; Lennernäs, Hans

    2009-01-01

    Carriers may mediate the permeation across enterocytes for drug substances being organic anions. Carrier mediated permeation for the organic anions estrone-3-sulfate (ES) and glipizide across Caco-2 cells were investigated kinetically, and interactions on involved carriers evaluated. Initial...

  18. 7 CFR 35.4 - Carrier.

    Science.gov (United States)

    2010-01-01

    ... AND PLUMS Definitions § 35.4 Carrier. Carrier means any common or private carrier, including, but not being limited to, trucks, rail, airplanes, vessels, tramp or chartered steamers, whether carrying for...

  19. Basic Stand Alone Carrier Line Items PUF

    Data.gov (United States)

    U.S. Department of Health & Human Services — This release contains the Basic Stand Alone (BSA) Carrier Line Items Public Use Files (PUF) with information from Medicare Carrier claims. The CMS BSA Carrier Line...

  20. Motor carrier evaluation program plan

    International Nuclear Information System (INIS)

    Portsmouth, J.H.; Maxwell, J.E.; Boness, G.O.; Rice, L.E.

    1991-04-01

    The US Department of Energy (DOE) Transportation Management Program (TMP) has established a program to assist the DOE field offices and their contractors in evaluating the motor carriers used to transport DOE-owned hazardous and radioactive materials. This program was initiated to provide the DOE field offices with the tools necessary to help ensure, during this period of motor carrier deregulation, that only highly qualified carriers transport radioactive and hazardous commodities for the DOE. This program will assist DOE in maintaining their excellent performance record in the safe transportation of hazardous commodities. The program was also developed in response to public concern surrounding the transportation of hazardous materials. Representatives of other federal agencies, states, and tribal governments, as well as the news media, have expressed concern about the selection and qualification of carriers engaged in the transportation of Highway Route-Controlled Quantities (HRCQ) and Truckload (TL) quantities of radioactive material for the DOE. 8 refs

  1. Solute carrier transporters: Pharmacogenomics research ...

    African Journals Online (AJOL)

    Aghogho

    2010-12-27

    Dec 27, 2010 ... This paper reviews the solute carrier transporters and highlights the fact that there is much to be learnt from .... transporters, drug targets, effect or proteins and meta- ... basolateral or apical plasma membrane of polarized cells,.

  2. 29 CFR 1201.1 - Carrier.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 4 2010-07-01 2010-07-01 false Carrier. 1201.1 Section 1201.1 Labor Regulations Relating to Labor (Continued) NATIONAL MEDIATION BOARD DEFINITIONS § 1201.1 Carrier. The term carrier includes any express company, sleeping car company, carrier by railroad, subject to the Interstate Commerce Act...

  3. Low-cost carriers fare competition effect

    NARCIS (Netherlands)

    Carmona Benitez, R.B.; Lodewijks, G.

    2010-01-01

    This paper examines the effects that low-cost carriers (LCC’s) produce when entering new routes operated only by full-service carriers (FSC’s) and routes operated by low-cost carriers in competition with full-service carriers. A mathematical model has been developed to determine what routes should

  4. Bacterial Carriers for Glioblastoma Therapy

    Directory of Open Access Journals (Sweden)

    Nalini Mehta

    2017-03-01

    Full Text Available Treatment of aggressive glioblastoma brain tumors is challenging, largely due to diffusion barriers preventing efficient drug dosing to tumors. To overcome these barriers, bacterial carriers that are actively motile and programmed to migrate and localize to tumor zones were designed. These carriers can induce apoptosis via hypoxia-controlled expression of a tumor suppressor protein p53 and a pro-apoptotic drug, Azurin. In a xenograft model of human glioblastoma in rats, bacterial carrier therapy conferred a significant survival benefit with 19% overall long-term survival of >100 days in treated animals relative to a median survival of 26 days in control untreated animals. Histological and proteomic analyses were performed to elucidate the safety and efficacy of these carriers, showing an absence of systemic toxicity and a restored neural environment in treated responders. In the treated non-responders, proteomic analysis revealed competing mechanisms of pro-apoptotic and drug-resistant activity. This bacterial carrier opens a versatile avenue to overcome diffusion barriers in glioblastoma by virtue of its active motility in extracellular space and can lead to tailored therapies via tumor-specific expression of tumoricidal proteins.

  5. Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

    NARCIS (Netherlands)

    Jakubowska, A.; Rozkrut, D.; Antoniou, A.; Hamann, U.; Scott, R. J.; McGuffog, L.; Healy, S.; Sinilnikova, O. M.; Rennert, G.; Lejbkowicz, F.; Flugelman, A.; Andrulis, I. L.; Glendon, G.; Ozcelik, H.; Thomassen, M.; Paligo, M.; Aretini, P.; Kantala, J.; Aroer, B.; Von Wachenfeldt, A.; Liljegren, A.; Loman, N.; Herbst, K.; Kristoffersson, U.; Rosenquist, R.; Karlsson, P.; Stenmark-Askmalm, M.; Melin, B.; Nathanson, K. L.; Domchek, S. M.; Byrski, T.; Huzarski, T.; Gronwald, J.; Menkiszak, J.; Cybulski, C.; Serrano, P.; Osorio, A.; Cajal, T. R.; Tsitlaidou, M.; Benítez, J.; Gilbert, M.; Rookus, M.; Aalfs, C. M.; Kluijt, I.; Boessenkool-Pape, J. L.; Meijers-Heijboer, H. E. J.; Oosterwijk, J. C.; van Asperen, C. J.; Blok, M. J.; Nelen, M. R.; van den Ouweland, A. M. W.; Seynaeve, C.; van der Luijt, R. B.; Devilee, P.; Easton, D. F.; Peock, S.; Frost, D.; Platte, R.; Ellis, S. D.; Fineberg, E.; Evans, D. G.; Lalloo, F.; Eeles, R.; Jacobs, C.; Adlard, J.; Davidson, R.; Eccles, D.; Cole, T.; Cook, J.; Godwin, A.; Bove, B.; Stoppa-Lyonnet, D.; Caux-Moncoutier, V.; Belotti, M.; Tirapo, C.; Mazoyer, S.; Barjhoux, L.; Boutry-Kryza, N.; Pujol, P.; Coupier, I.; Peyrat, J.-P.; Vennin, P.; Muller, D.; Fricker, J.-P.; Venat-Bouvet, L.; Johannsson, O. Th; Isaacs, C.; Schmutzler, R.; Wappenschmidt, B.; Meindl, A.; Arnold, N.; Varon-Mateeva, R.; Niederacher, D.; Sutter, C.; Deissler, H.; Preisler-Adams, S.; Simard, J.; Soucy, P.; Durocher, F.; Chenevix-Trench, G.; Beesley, J.; Chen, X.; Rebbeck, T.; Couch, F.; Wang, X.; Lindor, N.; Fredericksen, Z.; Pankratz, V. S.; Peterlongo, P.; Bonanni, B.; Fortuzzi, S.; Peissel, B.; Szabo, C.; Mai, P. L.; Loud, J. T.; Lubinski, J.; Peock, Susan; Frost, Debra; Platte, Radka; Ellis, Steve D.; Fineberg, Elena; Miedzybrodzka, Zosia; Gregory, Helen; Morrison, Patrick; Jeffers, Lisa; Cole, Trevor; Ong, Kai-Ren; Hoffman, Jonathan; Donaldson, Alan; James, Margaret; Paterson, Joan; Downing, Sarah; Taylor, Amy; Murray, Alexandra; Rogers, Mark T.; McCann, Emma; Kennedy, M. John; Barton, David; Porteous, Mary; Drummond, Sarah; Brewer, Carole; Kivuva, Emma; Searle, Anne; Goodman, Selina; Hill, Kathryn; Davidson, Rosemarie; Murday, Victoria; Bradshaw, Nicola; Snadden, Lesley; Longmuir, Mark; Watt, Catherine; Gibson, Sarah; Haque, Eshika; Tobias, Ed; Duncan, Alexis; Izatt, Louise; Jacobs, Chris; Langman, Caroline; Whaite, Anna; Dorkins, Huw; Barwell, Julian; Adlard, Julian; Chu, Carol; Miller, Julie; Ellis, Ian; Houghton, Catherine; Evans, D. Gareth; Lalloo, Fiona; Taylor, Jane; Side, Lucy; Male, Alison; Berlin, Cheryl; Eason, Jacqueline; Collier, Rebecca; Douglas, Fiona; Claber, Oonagh; Jobson, Irene; Walker, Lisa; McLeod, Diane; Halliday, Dorothy; Durell, Sarah; Stayner, Barbara; Eeles, Ros; Shanley, Susan; Rahman, Nazneen; Houlston, Richard; Bancroft, Elizabeth; D'Mello, Lucia; Page, Elizabeth; Ardern-Jones, Audrey; Kohut, Kelly; Wiggins, Jennifer; Castro, Elena; Mitra, Anita; Robertson, Lisa; Cook, Jackie; Quarrell, Oliver; Bardsley, Cathryn; Hodgson, Shirley; Goff, Sheila; Brice, Glen; Winchester, Lizzie; Eddy, Charlotte; Tripathi, Vishakha; Attard, Virginia; Eccles, Diana; Lucassen, Anneke; Crawford, Gillian; McBride, Donna; Smalley, Sarah; Sinilnikova, Olga; Mazoyer, Sylvie; Barjhoux, Laure; Verny-Pierre, Carole; Giraud, Sophie; Léone, Mélanie; Stoppa-Lyonnet, Dominique; Gauthier-Villars, Marion; Buecher, Bruno; Houdayer, Claude; Moncoutier, Virginie; Belotti, Muriel; Tirapo, Carole; de Pauw, Antoine; Bressac-de-Paillerets, Brigitte; Byrde, Véronique; Caron, Olivier; Lenoir, Gilbert; Bignon, Yves-Jean; Uhrhammer, Nancy; Lasset, Christine; Bonadona, Valérie; Hardouin, Agnès; Berthet, Pascaline; Sobol, Hagay; Bourdon, Violaine; Noguchi, Tetsuro; Remenieras, Audrey; Eisinger, François; Coulet, Florence; Colas, Chrystelle; Soubrier, Florent; Coupier, Isabelle; Pujol, Pascal; Peyrat, Jean-Philippe; Fournier, Joëlle; Révillion, Françoise; Vennin, Philippe; Adenis, Claude; Rouleau, Etienne; Lidereau, Rosette; Demange, Liliane; Nogues, Catherine; Muller, Danièle; Fricker, Jean-Pierre; Barouk-Simonet, Emmanuelle; Bonnet, Françoise; Bubien, Virginie; Sevenet, Nicolas; Longy, Michel; Toulas, Christine; Guimbaud, Rosine; Gladieff, Laurence; Feillel, Viviane; Leroux, Dominique; Dreyfus, Hélène; Rebischung, Christine; Peysselon, Magalie; Coron, Fanny; Faivre, Laurence; Prieur, Fabienne; Lebrun, Marine; Kientz, Caroline; Ferrer, Sandra Fert; Frénay, Marc; Vénat-Bouvet, Laurence; Delnatte, Capucine; Mortemousque, Isabelle; Lynch, Henry T.; Snyder, Carrie L.; Hogervorst, F. B. L.; Verhoef, S.; Verheus, M.; van't Veer, L. J.; van Leeuwen, F. E.; Rookus, M. A.; Collée, M.; Jager, A.; Hooning, M. J.; Tilanus-Linthorst, M. M. A.; Wijnen, J. T.; Vreeswijk, M. P.; Tollenaar, R. A.; Ligtenberg, M. J.; Hoogerbrugge, N.; Ausems, M. G.; van Os, T. A.; Gille, J. J. P.; Waisfisz, Q.; Gomez-Garcia, E. B.; van Roozendaal, C. E.; Blok, Marinus J.; Caanen, B.; van der Hout, A. H.; Mourits, M. J.; Vasen, H. F.; Szabo, C. I.; Zikan, Michal; Pohlreich, Petr; Kleibl, Zdenek; Foretova, Lenka; Eva, Machackova; Miroslava, Lukesova; Claes, Kathleen; de Leeneer, Kim; Poppe, Bruce; de Paepe, Anne; Karlsson, Per; Nordling, Margareta; Bergman, Annika; Einbeigi, Zakaria; Stenmark-Askmalm, Marie; Liedgren, Sigrun; Borg, Ake; Loman, Niklas; Olsson, Håkan; Soller, Maria; Jernström, Helena; Harbst, Katja; Henriksson, Karin; Lindblom, Annika; Arver, Brita; von Wachenfeldt, Anna; Liljegren, Annelie; Barbany-Bustinza, Gisela; Rantala, Johanna; Melin, Beatrice; Grönberg, Henrik; Stattin, Eva-Lena; Emanuelsson, Monica; Ehrencrona, Hans; Rosenquist, Richard; Dahl, Niklas

    2012-01-01

    BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either

  6. Mobility of charge carriers in porous silicon layers

    International Nuclear Information System (INIS)

    Forsh, P. A.; Martyshov, M. N.; Latysheva, A. P.; Vorontsov, A. S.; Timoshenko, V. Yu.; Kashkarov, P. K.

    2008-01-01

    The (conduction) mobility of majority charge carriers in porous silicon layers of the n and p types is estimated by joint measurements of electrical conductivity and free charge carrier concentration, which is determined from IR absorption spectra. Adsorption of donor and acceptor molecules leading to a change in local electric fields in the structure is used to identify the processes controlling the mobility in porous silicon. It is found that adsorption of acceptor and donor molecules at porous silicon of the p and n types, respectively, leads to a strong increase in electrical conductivity, which is associated with an increase in the concentration of free carrier as well as in their mobility. The increase in the mobility of charge carriers as a result of adsorption indicates the key role of potential barriers at the boundaries of silicon nanocrystals and may be due to a decrease in the barrier height as a result of adsorption

  7. Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.

    Science.gov (United States)

    Shamash, Jana; Rienstein, Shlomit; Wolf-Reznik, Haike; Pras, Elon; Dekel, Michal; Litmanovitch, Talia; Brengauz, Masha; Goldman, Boleslav; Yonath, Hagith; Dor, Jehoshua; Levron, Jacob; Aviram-Goldring, Ayala

    2011-01-01

    Preimplantation genetic diagnosis using fluorescence in-situ hybridization (PGD-FISH) is currently the most common reproductive solution for translocation carriers. However, this technique usually does not differentiate between embryos carrying the balanced form of the translocation and those carrying the homologous normal chromosomes. We developed a new application of preimplantation genetic haplotyping (PGH) that can identify and distinguish between all forms of the translocation status in cleavage stage embryos prior to implantation. Polymorphic markers were used to identify and differentiate between the alleles that carry the translocation and those that are the normal homologous chromosomes. Embryos from two families of robertsonian translocation carriers were successfully analyzed using polymorphic markers haplotyping. Our preliminary results indicate that the PGH is capable of distinguishing between normal, balanced and unbalanced translocation carrier embryos. This method will improve PGD and will enable translocation carriers to avoid transmission of the translocation and the associated medical complications to offspring.

  8. 78 FR 66801 - Motor Carrier Safety Advisory Committee; Charter Renewal

    Science.gov (United States)

    2013-11-06

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2006-26367] Motor Carrier Safety Advisory Committee; Charter Renewal AGENCY: Federal Motor Carrier Safety... and recommendations on motor carrier safety programs and motor carrier safety regulations through a...

  9. Hydrogen, an energy carrier with a future

    International Nuclear Information System (INIS)

    Zimmer, K.H.

    1975-01-01

    The inefficient use, associated with pollutants, of the fossil energy carriers coal, crude oil and natural gas, will deplete resources, if the energy demand increases exponentially, in the not-too-distant future. That is the reason why the hydrogen-energy concept gains in importance. This requires drastic changes in structure in a lot of technological fields. This task is only to be mastered if there is cooperation between all special fields, in order to facilitate the economical production, distribution and utilization of hydrogen. (orig.) [de

  10. The solute carrier 6 family of transporters

    DEFF Research Database (Denmark)

    Bröer, Stefan; Gether, Ulrik

    2012-01-01

    of these transporters is associated with a variety of diseases. Pharmacological inhibition of the neurotransmitter transporters in this family is an important strategy in the management of neurological and psychiatric disorders. This review provides an overview of the biochemical and pharmacological properties......The solute carrier 6 (SLC6) family of the human genome comprises transporters for neurotransmitters, amino acids, osmolytes and energy metabolites. Members of this family play critical roles in neurotransmission, cellular and whole body homeostasis. Malfunction or altered expression...... of the SLC6 family transporters....

  11. Hot carrier degradation in semiconductor devices

    CERN Document Server

    2015-01-01

    This book provides readers with a variety of tools to address the challenges posed by hot carrier degradation, one of today’s most complicated reliability issues in semiconductor devices.  Coverage includes an explanation of carrier transport within devices and book-keeping of how they acquire energy (“become hot”), interaction of an ensemble of colder and hotter carriers with defect precursors, which eventually leads to the creation of a defect, and a description of how these defects interact with the device, degrading its performance. • Describes the intricacies of hot carrier degradation in modern semiconductor technologies; • Covers the entire hot carrier degradation phenomenon, including topics such as characterization, carrier transport, carrier-defect interaction, technological impact, circuit impact, etc.; • Enables detailed understanding of carrier transport, interaction of the carrier ensemble with the defect precursors, and an accurate assessment of how the newly created defects imp...

  12. ISS qualified thermal carrier equipment

    Science.gov (United States)

    Deuser, Mark S.; Vellinger, John C.; Jennings, Wm. M.

    2000-01-01

    Biotechnology is undergoing a period of rapid and sustained growth, a trend which is expected to continue as the general population ages and as new medical treatments and products are conceived. As pharmaceutical and biomedical companies continue to search for improved methods of production and, for answers to basic research questions, they will seek out new avenues of research. Space processing on the International Space Station (ISS) offers such an opportunity! Space is rapidly becoming an industrial laboratory for biotechnology research and processing. Space bioprocessing offers exciting possibilities for developing new pharmaceuticals and medical treatments, which can be used to benefit mankind on Earth. It also represents a new economic frontier for the private sector. For over eight years, the thermal carrier development team at SHOT has been working with government and commercial sector scientists who are conducting microgravity experiments that require thermal control. SHOT realized several years ago that the hardware currently being used for microgravity thermal control was becoming obsolete. It is likely that the government, academic, and industrial bioscience community members could utilize SHOT's hardware as a replacement to their current microgravity thermal carrier equipment. Moreover, SHOT is aware of several international scientists interested in utilizing our space qualified thermal carrier. SHOT's economic financing concept could be extremely beneficial to the international participant, while providing a source of geographic return for their particular region. Beginning in 2000, flight qualified thermal carriers are expected to be available to both the private and government sectors. .

  13. Efficiency of some spectrochemical carriers

    International Nuclear Information System (INIS)

    Gomes, R.P.

    1978-01-01

    A comparative study of the efficiency of some spectrochemical carriers for the quantitative spectrographic analysis of Ag, Al, B, Bi, Cd, Cr, Cu, Fe, Mg, Mn, Mo, Ni, P, Pb, Si, Sn, V and Zn in uranium-base materials is presented. The volatility behavior of the eighteen elements is verified by means of the moving plate technique and each of the mentioned carriers. The best results are obtained with 4% In 2 O 3 , 6% AgCl and 5% NaF in a U 3 O 8 matrix. The sensitivities for some elements were extended to fractions of p.p.m. The precision, accuracy and acceptability of the method are calculated for all elements. The total error values as approximately in the range of 16-45% [pt

  14. Preventative maintenance of straddle carriers

    Directory of Open Access Journals (Sweden)

    Si Li

    2015-04-01

    Objectives: The purpose of this industry-driven study is to model preventative maintenance (PM influences on the operational effectiveness of straddle carriers. Method: The study employs historical data consisting of 21 273 work orders covering a 27-month period. Two models are developed, both of which forecast influences of PM regimes for different types of carrier. Results: The findings of the study suggest that the reliability of the straddle fleet decreases with increased intervals of PM services. The study also finds that three factors – namely resources, number of new straddles, and the number of new lifting work centres – influence the performances of straddles. Conclusion: The authors argue that this collaborative research exercise makes a significant contribution to existing supply chain management literature, particularly in the area of operations efficiency. The study also serves as an avenue to enhance relevant management practice.

  15. Protein carriers of conjugate vaccines

    Science.gov (United States)

    Pichichero, Michael E

    2013-01-01

    The immunogenicity of polysaccharides as human vaccines was enhanced by coupling to protein carriers. Conjugation transformed the T cell-independent polysaccharide vaccines of the past to T cell-dependent antigenic vaccines that were much more immunogenic and launched a renaissance in vaccinology. This review discusses the conjugate vaccines for prevention of infections caused by Hemophilus influenzae type b, Streptococcus pneumoniae, and Neisseria meningitidis. Specifically, the characteristics of the proteins used in the construction of the vaccines including CRM, tetanus toxoid, diphtheria toxoid, Neisseria meningitidis outer membrane complex, and Hemophilus influenzae protein D are discussed. The studies that established differences among and key features of conjugate vaccines including immunologic memory induction, reduction of nasopharyngeal colonization and herd immunity, and antibody avidity and avidity maturation are presented. Studies of dose, schedule, response to boosters, of single protein carriers with single and multiple polysaccharides, of multiple protein carriers with multiple polysaccharides and conjugate vaccines administered concurrently with other vaccines are discussed along with undesirable consequences of conjugate vaccines. The clear benefits of conjugate vaccines in improving the protective responses of the immature immune systems of young infants and the senescent immune systems of the elderly have been made clear and opened the way to development of additional vaccines using this technology for future vaccine products. PMID:23955057

  16. 7 CFR 33.4 - Carrier.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Carrier. 33.4 Section 33.4 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing... ISSUED UNDER AUTHORITY OF THE EXPORT APPLE ACT Definitions § 33.4 Carrier. Carrier means any common or...

  17. 8 CFR 217.6 - Carrier agreements.

    Science.gov (United States)

    2010-01-01

    ... 8 Aliens and Nationality 1 2010-01-01 2010-01-01 false Carrier agreements. 217.6 Section 217.6 Aliens and Nationality DEPARTMENT OF HOMELAND SECURITY IMMIGRATION REGULATIONS VISA WAIVER PROGRAM § 217... may notify a carrier of the existence of a basis for termination of a carrier agreement under this...

  18. 14 CFR 271.4 - Carrier costs.

    Science.gov (United States)

    2010-01-01

    ... Aeronautics and Space OFFICE OF THE SECRETARY, DEPARTMENT OF TRANSPORTATION (AVIATION PROCEEDINGS) ECONOMIC REGULATIONS GUIDELINES FOR SUBSIDIZING AIR CARRIERS PROVIDING ESSENTIAL AIR TRANSPORTATION § 271.4 Carrier costs. (a) The reasonable costs projected for a carrier providing essential air service at an eligible...

  19. 14 CFR 271.5 - Carrier revenues.

    Science.gov (United States)

    2010-01-01

    ... Aeronautics and Space OFFICE OF THE SECRETARY, DEPARTMENT OF TRANSPORTATION (AVIATION PROCEEDINGS) ECONOMIC REGULATIONS GUIDELINES FOR SUBSIDIZING AIR CARRIERS PROVIDING ESSENTIAL AIR TRANSPORTATION § 271.5 Carrier revenues. (a) The projected passenger revenue for a carrier providing essential air service at an eligible...

  20. 14 CFR 399.82 - Passing off of carrier identity by affiliation between carriers.

    Science.gov (United States)

    2010-01-01

    ... forth in paragraph (c) of this section. In such cases the Board may determine in an adjudicatory... carrier shall not engage in joint public relations activities at points served by both carriers which tend... either carrier are performed in common with the other carrier or as part of a single system. In cases...

  1. Risk of asthma in heterozygous carriers for cystic fibrosis

    DEFF Research Database (Denmark)

    Nielsen, Anne Orholm; Qayum, Sadaf; Bouchelouche, Pierre Nourdine

    2016-01-01

    Background Patients with cystic fibrosis (CF) have a higher prevalence of asthma than the background population, however, it is unclear whether heterozygous CF carriers are susceptible to asthma. Given this, a meta-analysis is necessary to determine the veracity of the association of CF...

  2. Airline Transport Pilot-Airplane (Air Carrier) Written Test Guide.

    Science.gov (United States)

    Federal Aviation Administration (DOT), Washington, DC. Flight Standards Service.

    Presented is information useful to applicants who are preparing for the Airline Transport Pilot-Airplane (Air Carrier) Written Test. The guide describes the basic aeronautical knowledge and associated requirements for certification, as well as information on source material, instructions for taking the official test, and questions that are…

  3. Drug targeting and the carriers. Application to chemoembolization and medical imaging

    International Nuclear Information System (INIS)

    Puisieux, F.; Benoit, J.P.; Roblot-Treupel, L.

    1987-01-01

    The last fifteen years have seen an increased interest in drug targeting which can be considered as a new way to control the body distribution of drugs when associated with an appropriate carrier. The systems currently studied possess different structures (macromolecular, vesicular and particular) and can be classified into carriers of first, second and third generation. After a brief review of the three types of carriers, this paper focuses on their respective interest in the different fields of radiology: carriers of first generation (microcapsules, microspheres) in chemoembolization, carriers of second generation (liposomes, nanocapsules, nanospheres) in conventional radiology, in computerized tomography, in scintigraphy, in RMN; carriers of third generation (monoclonal antibodies...) in immunoscintigraphy of tumors [fr

  4. Non-permeable substrate carrier for electroplating

    Science.gov (United States)

    Abas, Emmanuel Chua; Chen, Chen-An; Ma, Diana Xiaobing; Ganti, Kalyana Bhargava

    2012-11-27

    One embodiment relates to a substrate carrier for use in electroplating a plurality of substrates. The substrate carrier comprises a non-conductive carrier body on which the substrates are to be held. Electrically-conductive lines are embedded within the carrier body, and a plurality of contact clips are coupled to the electrically-conductive lines embedded within the carrier body. The contact clips hold the substrates in place and electrically couple the substrates to the electrically-conductive lines. The non-conductive carrier body is continuous so as to be impermeable to flow of electroplating solution through the non-conductive carrier body. Other embodiments, aspects and features are also disclosed.

  5. Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study

    DEFF Research Database (Denmark)

    Brohet, Richard M; Goldgar, David E; Easton, Douglas F

    2007-01-01

    PURPOSE Earlier studies have shown that endogenous gonadal hormones play an important role in the etiology of breast cancer among BRCA1/2 mutation carriers. So far, little is known about the safety of exogenous hormonal use in mutation carriers. In this study, we examined the association between ...

  6. Clinical manifestations of intermediate allele carriers in Huntington disease

    DEFF Research Database (Denmark)

    Cubo, Esther; Ramos-Arroyo, María A; Martinez-Horta, Saul

    2016-01-01

    a cohort of participants at risk with cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided...... into IA carriers (27-35 CAG) and controls (older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. RESULTS: Of 12....... However, older participants with IAs had higher chorea scores compared to controls (p = 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p = 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater...

  7. Identification of Human T-lymphotropic Virus Type I (HTLV-I Subtypes Using Restrited Fragment Length Polymorphism in a Cohort of Asymptomatic Carriers and Patients with HTLV-I-associated Myelopathy/tropical Spastic Paraparesis from São Paulo, Brazil

    Directory of Open Access Journals (Sweden)

    Segurado Aluisio AC

    2002-01-01

    Full Text Available Although human T-lymphotropic virus type I (HTLV-I exhibits high genetic stability, as compared to other RNA viruses and particularly to human immunodeficiency virus (HIV, genotypic subtypes of this human retrovirus have been characterized in isolates from diverse geographical areas. These are currently believed not to be associated with different pathogenetic outcomes of infection. The present study aimed at characterizing genotypic subtypes of viral isolates from 70 HTLV-I-infected individuals from São Paulo, Brazil, including 42 asymptomatic carriers and 28 patients with HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP, using restricted fragment length polymorphism (RFLP analysis of long terminal repeat (LTR HTLV-I proviral DNA sequences. Peripheral blood mononuclear cell lysates were amplified by nested polymerase chain reaction (PCR and amplicons submitted to enzymatic digestion using a panel of endonucleases. Among HTLV-I asymptomatic carriers, viral cosmopolitan subtypes A, B, C and E were identified in 73.8%, 7.1%, 7.1% and 12% of tested samples, respectively, whereas among HAM/TSP patients, cosmopolitan A (89.3%, cosmopolitan C (7.1% and cosmopolitan E (3.6% subtypes were detected. HTLV-I subtypes were not statistically significant associated with patients' clinical status. We also conclude that RFLP analysis is a suitable tool for descriptive studies on the molecular epidemiology of HTLV-I infections in our environment.

  8. 76 FR 32390 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2011-06-06

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2006-26367] Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee (MCSAC) Meeting. SUMMARY...

  9. 77 FR 46555 - Motor Carrier Safety Advisory Committee: Public Meeting

    Science.gov (United States)

    2012-08-03

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2006-26367] Motor Carrier Safety Advisory Committee: Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of meeting of Motor Carrier Safety Advisory Committee (MCSAC...

  10. 75 FR 2923 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2010-01-19

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2006-26367] Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee Meeting. SUMMARY: FMCSA...

  11. 75 FR 29384 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2010-05-25

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2010-0143] Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee meeting. SUMMARY: FMCSA...

  12. 75 FR 72863 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2010-11-26

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2006-26367] Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration, DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee Meeting. SUMMARY: FMCSA announces...

  13. 75 FR 50797 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2010-08-17

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2010-0143] Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee Meeting. SUMMARY: FMCSA...

  14. Wuestite - a solar energy carrier

    Energy Technology Data Exchange (ETDEWEB)

    Weidenkaff, A; Nueesch, P; Wokaun, A [Paul Scherrer Inst. (PSI), Villigen (Switzerland); Reller, A [Hamburg Univ., Hamburg (Germany)

    1997-06-01

    Hydrogen is produced when Wuestite (Fe{sub 1-y}O) is oxidised by water. This reaction is part of a two-step thermochemical metal oxide cycle for the storage of solar energy in the form of chemical energy carriers, characterised by a high chemical potential. The reaction was studied in a tubular furnace with on-line gas analysis and further characterised in detail by DTA und high-temperature X-ray powder diffraction. The influence of non-stoichiometry, morphology and temperature on the mechanism and kinetics of the water-splitting reaction was determined. (author) 3 figs., tabs., 3 refs.

  15. Biocheese: A Food Probiotic Carrier

    Science.gov (United States)

    Castro, J. M.; Tornadijo, M. E.; Fresno, J. M.; Sandoval, H.

    2015-01-01

    This review describes some aspects related to the technological barriers encountered in the development and stability of probiotic cheeses. Aspects concerning the viability of probiotic cultures in this matrix are discussed and the potential of cheese as a biofunctional food carrier is analyzed, outlying some points related to health and safety. In general, the manufacture of probiotic cheese should have little change when compared with the elaboration of cheese in the traditional way. The physicochemical and technological parameters influencing the quality of these products have also to be measured so as to obtain a process optimization. PMID:25802862

  16. Silicon nanowire hot carrier electroluminescence

    Energy Technology Data Exchange (ETDEWEB)

    Plessis, M. du, E-mail: monuko@up.ac.za; Joubert, T.-H.

    2016-08-31

    Avalanche electroluminescence from silicon pn junctions has been known for many years. However, the internal quantum efficiencies of these devices are quite low due to the indirect band gap nature of the semiconductor material. In this study we have used reach-through biasing and SOI (silicon-on-insulator) thin film structures to improve the internal power efficiency and the external light extraction efficiency. Both continuous silicon thin film pn junctions and parallel nanowire pn junctions were manufactured using a custom SOI technology. The pn junctions are operated in the reach-through mode of operation, thus increasing the average electric field within the fully depleted region. Experimental results of the emission spectrum indicate that the most dominant photon generating mechanism is due to intraband hot carrier relaxation processes. It was found that the SOI nanowire light source external power efficiency is at least an order of magnitude better than the comparable bulk CMOS (Complementary Metal Oxide Semiconductor) light source. - Highlights: • We investigate effect of electric field on silicon avalanche electroluminescence. • With reach-through pn junctions the current and carrier densities are kept constant. • Higher electric fields increase short wavelength radiation. • Higher electric fields decrease long wavelength radiation. • The effect of the electric field indicates intraband transitions as main mechanism.

  17. Low-complexity Joint Sub-carrier Phase Noise Compensation for Digital Multi-carrier Systems

    DEFF Research Database (Denmark)

    Yankov, Metodi Plamenov; Barletta, Luca; Zibar, Darko

    2017-01-01

    Joint sub-carrier phase noise processing is proposed which recovers the SNR penalty related to decreased sub-carrier baudrate w.r.t. single carrier systems. The method enables digital sub-banding to be safely employed for nonlinear mitigation for modulation formats of up to 256-QAM.......Joint sub-carrier phase noise processing is proposed which recovers the SNR penalty related to decreased sub-carrier baudrate w.r.t. single carrier systems. The method enables digital sub-banding to be safely employed for nonlinear mitigation for modulation formats of up to 256-QAM....

  18. Differential Analysis of the Nasal Microbiome of Pig Carriers or Non-Carriers of Staphylococcus aureus

    DEFF Research Database (Denmark)

    Espinosa-Gongora, Carmen; Larsen, Niels; Schonning, Kristian

    2016-01-01

    pathogen in animal carriers. The aim of this study was to determine whether the nasal microbiome of pig S. aureus carriers differs from that of non-carriers. The V3-V5 region of the 16S rRNA gene was sequenced from nasal swabs of 44 S. aureus carriers and 56 non-carriers using the 454 GS FLX titanium...... microbiome of pigs that are not colonized with S. aureus harbours several species/taxa that are significantly less abundant in pig carriers, suggesting that the nasal microbiota may play a role in the individual predisposition to S. aureus nasal carriage in pigs. Further research is warranted to isolate...

  19. Inert carriers for column extraction chromatography

    International Nuclear Information System (INIS)

    Katykhin, G.S.

    1978-01-01

    Inert carriers used in column extraction chromatography are reviewed. Such carriers are devided into two large groups: hydrophilic carriers which possess high surface energy and are well wetted only with strongly polar liquids (kieselguhrs, silica gels, glasses, cellulose, Al 2 O 3 ) and water-repellent carriers which possess low surface energy and are well wetted with various organic solvents (polyethylene, polytetrafluorethylene polytrifluorochlorethylene). Properties of various carriers are presented: structure, chemical and radiation stability, adsorption properties, extracting agent capacity. The effect of structure and sizes of particles on the efficiency of chromatography columns is considered. Ways of immovable phase deposition on the carrier and the latter's regeneration. Peculiarities of column packing for preparative and continuous chromatography are discussed

  20. Aerial Logistics Management for Carrier Onboard Delivery

    Science.gov (United States)

    2016-09-01

    NAVAL POSTGRADUATE SCHOOL MONTEREY, CALIFORNIA THESIS AERIAL LOGISTICS MANAGEMENT FOR CARRIER ONBOARD DELIVERY by Samuel L. Chen September 2016...AND SUBTITLE AERIAL LOGISTICS MANAGEMENT FOR CARRIER ONBOARD DELIVERY 5. FUNDING NUMBERS 6. AUTHOR(S) Samuel L. Chen 7. PERFORMING ORGANIZATION NAME(S...delivery (COD) is the use of aircraft to transport people and cargo from a forward logistics site (FLS) to a carrier strike group (CSG). The goal of

  1. Both Hemophilia Health Care Providers and Hemophilia A Carriers Report that Carriers have Excessive Bleeding

    Science.gov (United States)

    Paroskie, Allison; Oso, Olatunde; DeBaun, Michael R.; Sidonio, Robert F

    2014-01-01

    Introduction Hemophilia A, the result of reduced factor VIII (FVIII) activity, is an X-linked recessive bleeding disorder. Previous reports of Hemophilia A carriers suggest an increased bleeding tendency. Our objective was to determine the attitudes and understanding of the Hemophilia A carrier bleeding phenotype, and opinions regarding timing of carrier testing from the perspective of both medical providers and affected patients. Data from this survey was used as preliminary data for an ongoing prospective study. Material and Methods An electronic survey was distributed to physicians and nurses employed at Hemophilia Treatment Centers (HTC), and Hemophilia A carriers who were members of Hemophilia Federation of America. Questions focused on the clinical understanding of bleeding symptoms and management of Hemophilia A carriers, and the timing and intensity of carrier testing. Results Our survey indicates that 51% (36/51) of providers compared to 78% (36/46) of carriers believe that Hemophilia A carriers with normal FVIII activity have an increased bleeding tendency (pHemophilia A carriers report a high frequency of bleeding symptoms. Regarding carrier testing, 72% (50/69) of medical providers recommend testing after 14 years of age, conversely 65% (29/45) of Hemophilia A carriers prefer testing to be done prior to this age (pHemophilia A carriers self-report a higher frequency of bleeding than previously acknowledged, and have a preference for earlier testing to confirm carrier status. PMID:24309601

  2. Phenobarbital use and neurological problems in FMR1 premutation carriers.

    Science.gov (United States)

    Saldarriaga, Wilmar; Lein, Pamela; González Teshima, Laura Yuriko; Isaza, Carolina; Rosa, Lina; Polyak, Andrew; Hagerman, Randi; Girirajan, Santhosh; Silva, Marisol; Tassone, Flora

    2016-03-01

    Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats). Premutation carriers have elevated FMR1 mRNA expression levels, which have been associated with neurotoxicity potentially causing neurodevelopmental problems or neurological problems associated with aging. However, cognitive impairments or neurological problems may also be related to increased vulnerability of premutation carriers to neurotoxicants, including phenobarbital. Here we present a study of three sisters with the premutation who were exposed differentially to phenobarbital therapy throughout their lives, allowing us to compare the neurological effects of this drug in these patients. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Cyclodextrins in drug carrier systems.

    Science.gov (United States)

    Uekama, K; Otagiri, M

    1987-01-01

    One of the important characteristics of cyclodextrins is the formation of an inclusion complex with a variety of drug molecules in solution and in the solid state. As a consequence of intensive basic research, exhaustive toxic studies, and realization of industrial production during the past decade, there seem to be no more barriers for the practical application of natural cyclodextrins in the biomedical field. Recently, a number of cyclodextrin derivatives and cyclodextrin polymers have been prepared to obtain better inclusion abilities than parent cyclodextrins. The natural cyclodextrins and their synthetic derivatives have been successfully utilized to improve various drug properties, such as solubility, dissolution and release rates, stability, or bioavailability. In addition, the enhancement of drug activity, selective transfer, or the reduction of side effects has been achieved by means of inclusion complexation. The drug-cyclodextrin complex is generally formed outside of the body and, after administration, it dissociates, releasing the drug into the organism in a fast and nearly uniform manner. In the biomedical application of cyclodextrins, therefore, particular attention should be directed to the magnitude of the stability constant of the inclusion complex. In the case of parenteral application, a rather limited amount of work has been done because the cyclodextrins in the drug carrier systems have to be more effectively designed to compete with various biological components in the circulatory system. However, the works published thus far apparently indicate that the inclusion phenomena of cyclodextrin analogs may allow the rational design of drug formulation and that the combination of molecular encapsulation with other carrier systems will become a very effective and valuable method for the development of a new drug delivery system in the near future.

  4. Viscoelastic gravel-pack carrier fluid

    International Nuclear Information System (INIS)

    Nehmer, W.L.

    1988-01-01

    The ability of a fluid to flow adequately into the formation during gravel-pack treatments is critical to achieving a good pack. Recent studies have indicated ''fish-eyes'' and/or ''microgels'' present in many polymer gelled carrier fluids will plug pore throats, leading to impaired leakoff and causing formation damage. Intensive manipulation of the polymer gelled fluid using shear and filter devices will help remove the particles, but it adds to the cost of the treatment in terms of equipment and manpower. Excessive shear will degrade the polymer leading to poor gravel suspension, while too little shear will cause filtration problems. A gelled carried fluid using a viscoelastic surfactant system has been found to leak off very efficiently to the formation, and cause no formation damage, without the use of shear/filter devices. Viscoelastic surfactant-base gelled fluids develop viscosity because of the association of surfactant moloecules into large rod-shaped aggregates. There is no hydration of polymer involved, so fish-eyes and microgels will not be formed in the viscoelastic fluid. A surfactant-base system having a yield point allows the gravel carrying properties to be much better than fluids gelled with conventional polymer systems (hydroxyethylcellulose [HEC]). For example, a gravel carried fluid gelled with 80 lb HEC/1,000 gal has a viscosity of about 400 cp at 170 sec/sup -1/; a viscoelastic surfactant-base system having only one-half the viscosity still flows into cores about four times more efficiently than the HEC-base fluid. The rheology, leakoff, formation damage and mixing properties of a viscoelastic, surfactant-base, gravel-pack carrier fluid are discussed

  5. Attitudes of truck drivers and carriers on the use of electronic logging devices and driver harassment.

    Science.gov (United States)

    2014-11-01

    The research contained herein is an examination of managerial harassment experienced by drivers, and whether harassment is associated with the method used to log hours of service (HOS). Similar information was gathered from a sample of carriers. : Tr...

  6. Carrier-carrier relaxation kinetics in quantum well semiconductor structures with nonparabolic energy bands

    DEFF Research Database (Denmark)

    Dery, H.; Tromborg, Bjarne; Eisenstein, G.

    2003-01-01

    We describe carrier-carrier scattering dynamics in an inverted quantum well structure including the nonparabolic nature of the valance band. A solution of the semiconductor Bloch equations yields strong evidence to a large change in the temporal evolution of the carrier distributions compared to ...

  7. Facilitated transport of hydrophilic salts by mixtures of anion and cation carriers and by ditopic carriers

    NARCIS (Netherlands)

    Chrisstoffels, L.A.J.; de Jong, Feike; Reinhoudt, David; Sivelli, Stefano; Gazzola, Licia; Casnati, Alessandro; Ungaro, Rocco

    1999-01-01

    Anion transfer to the membrane phase affects the extraction efficiency of salt transport by cation carriers 1 and 3. Addition of anion receptors 5 or 6 to cation carriers 1, 3, or 4 in the membrane phase enhances the transport of salts under conditions in which the cation carriers alone do not

  8. Driver citation/carrier data relationship project

    Science.gov (United States)

    1996-09-01

    The Driver/Carrier Relationship Project was commissioned to address three issues. The first was to determine if drivers of commercial motor vehicles get tickets at a different rate, depending on the carrier that they are working for. The second issue...

  9. Method and apparatus for information carrier authentication

    NARCIS (Netherlands)

    2015-01-01

    The present invention relates to a method of enabling authentication of an information carrier, the information carrier comprising a writeable part and a physical token arranged to supply a response upon receiving a challenge, the method comprising the following steps; applying a first challenge to

  10. Immobilisation of Acinetobacter calcoaceticus using natural carriers

    African Journals Online (AJOL)

    2005-04-02

    Apr 2, 2005 ... and Cloete, 1995) or ceramic (Kariminiaae-Hamedaani et al.,. 2003) carriers. Besides the synthetic carriers, natural zeolite. (NZ) has been shown as a .... ing 9 mℓ of sterile distilled water, crushed with a sterile glass rod and dispersed by mixing (2 700 r/min for 10 min using the test tube shaker Kartell TK3S) ...

  11. High capacity carrier ethernet transport networks

    DEFF Research Database (Denmark)

    Rasmussen, Anders; Zhang, Jiang; Yu, Hao

    2009-01-01

    OAM functions, survivability and the increased bandwidth requirements of carrier class systems. This article provides an overview of PBB-TE and T-MPLS and demonstrates how IPTV services can be realized in the framework of Carrier Ethernet. In addition we provide a case study on performing bit error...

  12. Providing resilience for carrier ethernet multicast traffic

    DEFF Research Database (Denmark)

    Ruepp, Sarah Renée; Wessing, Henrik; Zhang, Jiang

    2009-01-01

    This paper presents an overview of the Carrier Ethernet technology with specific focus on resilience. In particular, we detail how multicast traffic, which is essential for e.g. IPTV can be protected. We present Carrier Ethernet resilience methods for linear and ring networks and show by simulation...

  13. Inert carrier drying and coating process

    International Nuclear Information System (INIS)

    1980-01-01

    An inert carrier process is described for drying radioactive (particularly low level) waste material and for incorporating the dry material into a binder matrix from which the dried material will not be leached. Experimental details, and examples of the carrier and binder materials, are given. (U.K.)

  14. Safety requirements for the Pu carriers

    International Nuclear Information System (INIS)

    Mishima, H.

    1993-01-01

    Ministry of Transport of Japan has now set about studying requirements for Pu carriers to ensure safety. It was first studied what the basic concept of safe carriage of Pu should be, and the basic ideas have been worked out. Next the requirements for the Pu carriers were studied based on the above. There are at present no international requirements of construction and equipment for the nuclear-material carriers, but MOT of Japan has so far required special construction and equipment for the nuclear-material carriers which carry a large amount of radioactive material, such as spent fuel or low level radioactive waste, corresponding to the level of the respective potential hazard. The requirements of construction and equipment of the Pu carriers have been established considering the difference in heat generation between Pu and spent fuel, physical protection, and so forth, in addition to the above basic concept. (J.P.N.)

  15. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3

    NARCIS (Netherlands)

    Hamdi, Yosr; Soucy, Penny; Kuchenbaeker, Karoline B; Pastinen, Tomi; Droit, Arnaud; Lemaçon, Audrey; Adlard, Julian; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K; Azzollini, Jacopo; Bane, Anita; Barjhoux, Laure; Barrowdale, Daniel; Benitez, Javier; Berthet, Pascaline; Blok, Marinus J; Bobolis, Kristie; Bonadona, Valérie; Bonanni, Bernardo; Bradbury, Angela R; Brewer, Carole; Buecher, Bruno; Buys, Saundra S; Caligo, Maria A; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; Daly, Mary B; Damiola, Francesca; Davidson, Rosemarie; De la Hoya, Miguel; De Leeneer, Kim; Diez, Orland; Ding, Yuan Chun; Dolcetti, Riccardo; Domchek, Susan M; Dorfling, Cecilia M; Eccles, Diana; Eeles, Ros; Einbeigi, Zakaria; Ejlertsen, Bent; Engel, Christoph; Gareth Evans, D; Feliubadalo, Lidia; Foretova, Lenka; Fostira, Florentia; Foulkes, William D; Fountzilas, George; Friedman, Eitan; Frost, Debra; Ganschow, Pamela; Ganz, Patricia A; Garber, Judy; Gayther, Simon A; Gerdes, Anne-Marie; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Greene, Mark H; Gronwald, Jacek; Hahnen, Eric; Hamann, Ute; Hansen, Thomas V O; Hart, Steven; Hays, John L; Hogervorst, Frans B L; Hulick, Peter J; Imyanitov, Evgeny N; Isaacs, Claudine; Izatt, Louise; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M; Joseph, Vijai; Just, Walter; Kaczmarek, Katarzyna; Karlan, Beth Y; Kets, Carolien M; Kirk, Judy; Kriege, Mieke; Laitman, Yael; Laurent, Maïté; Lazaro, Conxi; Leslie, Goska; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Loman, Niklas; Loud, Jennifer T; Manoukian, Siranoush; Mariani, Milena; Mazoyer, Sylvie; McGuffog, Lesley; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Miller, Austin; Montagna, Marco; Mulligan, Anna Marie; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nussbaum, Robert L; Olah, Edith; Olopade, Olufunmilayo I; Ong, Kai-Ren; Oosterwijk, Jan C; Osorio, Ana; Papi, Laura; Park, Sue Kyung; Pedersen, Inge Sokilde; Peissel, Bernard; Segura, Pedro Perez; Peterlongo, Paolo; Phelan, Catherine M; Radice, Paolo; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Richardson, Andrea; Robson, Mark; Rodriguez, Gustavo C; Rookus, Matti A; Schmutzler, Rita Katharina; Sevenet, Nicolas; Shah, Payal D; Singer, Christian F; Slavin, Thomas P; Snape, Katie; Sokolowska, Johanna; Sønderstrup, Ida Marie Heeholm; Southey, Melissa; Spurdle, Amanda B; Stadler, Zsofia; Stoppa-Lyonnet, Dominique; Sukiennicki, Grzegorz; Sutter, Christian; Tan, Yen; Tea, Muy-Kheng; Teixeira, Manuel R; Teulé, Alex; Teo, Soo-Hwang; Terry, Mary Beth; Thomassen, Mads; Tihomirova, Laima; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Tung, Nadine; van den Ouweland, Ans M W; van der Luijt, Rob B; van Engelen, Klaartje; van Rensburg, Elizabeth J; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Wijnen, Juul T; Rebbeck, Timothy; Chenevix-Trench, Georgia; Offit, Kenneth; Couch, Fergus J; Nord, Silje; Easton, Douglas F; Antoniou, Antonis C; Simard, Jacques

    PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1

  16. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

    NARCIS (Netherlands)

    Y. Hamdi (Yosr); Soucy, P. (Penny); Kuchenbaeker, K.B. (Karoline B.); Pastinen, T. (Tomi); A. Droit (Arnaud); Lemaçon, A. (Audrey); J.W. Adlard (Julian); K. Aittomäki (Kristiina); I.L. Andrulis (Irene); A. Arason (Adalgeir); N. Arnold (Norbert); B.K. Arun (Banu); J. Azzollini; A.L. Bane (Anita L.); Barjhoux, L. (Laure); D. Barrowdale (Daniel); J. Benítez (Javier); P. Berthet (Pascaline); M.J. Blok (Marinus); K.A. Bobolis (Kristie A.); V. Bonadona (Valérie); B. Bonnani (Bernardo); Bradbury, A.R. (Angela R.); C. Brewer (Carole); B. Buecher (Bruno); Buys, S.S. (Saundra S.); M.A. Caligo (Maria); Chiquette, J. (Jocelyne); W. Chung (Wendy); K.B.M. Claes (Kathleen B.M.); Daly, M.B. (Mary B.); F. Damiola (Francesca); R. Davidson (Rosemarie); M. de La Hoya (Miguel); K. De Leeneer (Kim); O. Díez (Orland); Y.C. Ding (Yuan); R. Dolcetti (Riccardo); S.M. Domchek (Susan); C.M. Dorfling (Cecilia); D. Eccles (Diana); R. Eeles (Ros); Z. Einbeigi (Zakaria); B. Ejlertsen (Bent); EMBRACE; C. Engel (Christoph); Gareth Evans, D.; L. Feliubadaló (L.); L. Foretova (Lenka); F. Fostira (Florentia); Foulkes, W.D. (William D.); G. Fountzilas (George); E. Friedman (Eitan); D. Frost (Debra); P. Ganschow (Pamela); P.A. Ganz (Patricia A.); J. Garber (Judy); S.A. Gayther (Simon); GEMO Study Collaborators; A-M. Gerdes (Anne-Marie); G. Glendon (Gord); A.K. Godwin (Andrew K.); D. Goldgar (David); M.H. Greene (Mark H.); J. Gronwald (Jacek); E. Hahnen (Eric); U. Hamann (Ute); T.V.O. Hansen (Thomas); S. Hart (Stewart); J. Hays (John); HEBON; F.B.L. Hogervorst (Frans); P.J. Hulick (Peter); E.N. Imyanitov (Evgeny); C. Isaacs (Claudine); L. Izatt (Louise); A. Jakubowska (Anna); M. James (Margaret); R. Janavicius (Ramunas); U.B. Jensen; E.M. John (Esther); V. Joseph (Vijai); Just, W. (Walter); Kaczmarek, K. (Katarzyna); Karlan, B.Y. (Beth Y.); KConFab Investigators; C.M. Kets; J. Kirk (Judy); Kriege, M. (Mieke); Y. Laitman (Yael); Laurent, M. (Maïté); C. Lazaro (Conxi); Leslie, G. (Goska); K.J. Lester (Kathryn); F. Lesueur (Fabienne); A. Liljegren (Annelie); N. Loman (Niklas); J.T. Loud (Jennifer); S. Manoukian (Siranoush); Mariani, M. (Milena); S. Mazoyer (Sylvie); L. McGuffog (Lesley); E.J. Meijers-Heijboer (Hanne); A. Meindl (Alfons); A. Miller (Austin); M. Montagna (Marco); A.-M. Mulligan (Anna-Marie); K.L. Nathanson (Katherine); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); R.L. Nussbaum (Robert L.); Olah, E. (Edith); O.I. Olopade (Olufunmilayo I.); K.-R. Ong (Kai-Ren); J.C. Oosterwijk (Jan); A. Osorio (Ana); L. Papi (Laura); S.K. Park (Sue K.); Pedersen, I.S. (Inge Sokilde); B. Peissel (Bernard); P.P. Segura (Pedro Perez); P. Peterlongo (Paolo); C. Phelan (Catherine); P. Radice (Paolo); J. Rantala (Johanna); Rappaport-Fuerhauser, C. (Christine); G. Rennert (Gad); A.L. Richardson (Andrea); M. Robson (Mark); G.C. Rodriguez (Gustavo); M.A. Rookus (Matti); R.K. Schmutzler (Rita); N. Sevenet (Nicolas); Shah, P.D. (Payal D.); C.F. Singer (Christian); Slavin, T.P. (Thomas P.); Snape, K. (Katie); J. Sokolowska (Johanna); Sønderstrup, I.M.H. (Ida Marie Heeholm); M.C. Southey (Melissa); A.B. Spurdle (Amanda); Stadler, Z. (Zsofia); D. Stoppa-Lyonnet (Dominique); G. Sukiennicki (Grzegorz); C. Sutter (Christian); Tan, Y. (Yen); M.-K. Tea; P.J. Teixeira; A. Teulé (A.); S.-H. Teo (Soo-Hwang); M.B. Terry (Mary Beth); M. Thomassen (Mads); L. Tihomirova (Laima); M. Tischkowitz (Marc); S. Tognazzo (Silvia); A.E. Toland (Amanda); N. Tung (Nadine); A.M.W. van den Ouweland (Ans); R.B. van der Luijt (Rob); K. van Engelen (Klaartje); E.J. van Rensburg (Elizabeth); R. Varon-Mateeva (Raymonda); B. Wapenschmidt (Barbara); J.T. Wijnen (Juul); R. Rebbeck (Timothy); G. Chenevix-Trench (Georgia); K. Offit (Kenneth); Couch, F.J. (Fergus J.); S. Nord (Silje); D.F. Easton (Douglas F.); A.C. Antoniou (Antonis C.); Simard, J. (Jacques)

    2016-01-01

    textabstractPurpose: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility

  17. Methanol as an energy carrier

    Energy Technology Data Exchange (ETDEWEB)

    Biedermann, P.; Grube, T.; Hoehlein, B. (eds.)

    2006-07-01

    For the future, a strongly growing energy demand is expected in the transport sector worldwide. Economically efficient oil production will run through a maximum in the next decade. Higher fuel prices and an environmentally desirable reduction of emissions will increase the pressure for reducing fuel consumption and emissions in road traffic. These criteria show the urgent necessity of structural changes in the fuel market. Due to its advantages concerning industrial-scale production, storage and global availability, methanol has the short- to medium-term potential for gaining increased significance as a substitution product in the energy market. Methanol can be produced both from fossil energy sources and from biomass or waste materials through the process steps of synthesis gas generation with subsequent methanol synthesis. Methanol has the potential to be used in an environmentally friendly manner in gasoline/methanol mixtures for flexible fuel vehicles with internal combustion engines and in diesel engines with pure methanol. Furthermore, it can be used in fuel cell vehicles with on-board hydrogen production in direct methanol fuel cell drives, and in stationary systems for electricity and heat generation as well as for hydrogen production. Finally, in portable applications it serves as an energy carrier for electric power generation. In this book, the processes for the production and use of methanol are presented and evaluated, markets and future options are discussed and issues of safety and environmental impacts are addressed by a team of well-known authors. (orig.)

  18. Carrier scattering in metals and semiconductors

    CERN Document Server

    Gantmakher, VF

    1987-01-01

    The transport properties of solids, as well as the many optical phenomena in them are determined by the scattering of current carriers. ``Carrier Scattering in Metals and Semiconductors'' elucidates the state of the art in the research on the scattering mechanisms for current carriers in metals and semiconductors and describes experiments in which these mechanisms are most dramatically manifested.The selection and organization of the material is in a form to prepare the reader to reason independently and to deal just as independently with available theoretical results and experimental

  19. Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia

    DEFF Research Database (Denmark)

    Nimsanor, Natakarn; Jørring, Ida; Rasmussen, Mikkel A.

    2016-01-01

    Frontotemporal dementia with parkinsonism linked to chromosome 17q21.2 (FTDP-17) is an autosomal-dominant neurodegenerative disorder. Mutations in the gene coding the microtubule-associated protein tau (MAPT) can cause FTDP-17 but the underlying mechanisms of the disease are still unknown. Induced...

  20. Induced pluripotent stem cells (iPSCs) derived from af pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia

    DEFF Research Database (Denmark)

    Rasmussen, Mikkel A.; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich

    2016-01-01

    Skin fibroblasts were obtained from a 28-year-old pre-symptomatic woman carrying a R406W mutation in microtubule-associated protein tau (MAPT), known to cause frontotemporal dementia. Induced pluripotent stem cell (iPSCs) were established by electroporation with episomal plasmids containing hOCT4...

  1. Symptomatic lipid storage in carriers for the PNPLA2 gene.

    Science.gov (United States)

    Janssen, Mirian C H; van Engelen, Baziel; Kapusta, Livia; Lammens, Martin; van Dijk, Martin; Fischer, Judith; van der Graaf, Marinette; Wevers, Ron A; Fahrleitner, Manuela; Zimmermann, Robert; Morava, Eva

    2013-08-01

    Neutral lipid storage disease comprises a heterogeneous group of inherited disorders characterized by severe accumulation of cytoplasmic triglyceride droplets in several tissues and neutrophils. A novel type of autosomal recessive lipid myopathy due to PNPLA2 mutations was recently described with associated cardiac disease, myopathy and frequent infections, but without ichthyosis. Here we describe the clinical and biochemical characteristics of a long surviving patient and report on four carrier family members with diverse clinical involvement. Interestingly, heterozygous patients show neutral lipid storage in muscle and in the keratocytes of the skin, Jordans' bodies, mild myopathy and frequent infections. Biochemical analysis of fibroblasts obtained from patients revealed increased triglyceride storage and reduced lipid droplet-associated triglyceride hydrolase activity. Together, our data implicate that the wild-type allele cannot fully compensate for the mutated dysfunctional allele of PNPLA2 leading to triglyceride accumulation in muscle and mild myopathy in PNPLA2 mutation carriers. The presence of neutral lipid droplets in the skin in PNPLA2 mutation carriers strengthens the link between NLSD and other neutral lipid storage diseases with ichthyosis.

  2. Blood pressure levels in male carriers of Arg82Cys in CD300LG

    DEFF Research Database (Denmark)

    Støy, Julie; Grarup, Niels; Hørlyck, Arne

    2014-01-01

    found to be associated with fasting HDL-cholesterol and triglyceride levels. The polymorphism has not been detected in hypertension GWAS potentially due to its low frequency, but CD300LG has been linked to blood pressure as CD300LG knockout mice have changes in blood pressure. Twenty......-four-hour ambulatory blood pressure was obtained in human CD300LG CT-carriers to follow up on these observations. METHODS: Twenty healthy male CD300LG rs72836561 CT-carriers matched for age and BMI with 20 healthy male CC-carriers. Office blood pressure, 24-hour ambulatory blood pressure, carotid intima......-media thickness (CIMT), and fasting blood samples were evaluated. The clinical study was combined with a genetic-epidemiological study to replicate the association between blood pressure and CD300LG Arg82Cys in 2,637 men and 3,249 women. RESULTS: CT-carriers had a higher 24-hour ambulatory systolic blood pressure...

  3. Auto Carrier Transporter Loading and Unloading Improvement

    National Research Council Canada - National Science Library

    Miller, Brian

    2003-01-01

    .... Any reduction in time and energy will result in a significant savings of money. The intent of this research is to develop an algorithm to solve the Auto Carrier Transport Pickup and Delivery Problem...

  4. Aircraft Carrier Exposure Testing of Aircraft Materials

    National Research Council Canada - National Science Library

    Lee, Eui

    2004-01-01

    .... Test and control specimens were affixed on exposure racks and installed on aircraft carriers to compare adhesive bonding primers for aluminum and to determine the static property behavior of various...

  5. Commercial Air Carrier Vulnerabilities to Information Operations

    National Research Council Canada - National Science Library

    Shelburn, Bryan H

    2002-01-01

    .... Among those elements susceptible to these vulnerabilities are the operations of commercial air carriers that are essential to the military's ability to wage war and project power wherever needed in the world...

  6. Part B Carrier Summary Data File

    Data.gov (United States)

    U.S. Department of Health & Human Services — Data sets are summarized at the carrier level by meaningful Healthcare Common Procedure Coding-Current Procedural Terminology, (HCPC-CPT), code ranges. The data set...

  7. Sources of carrier F-19 in F-18 fluoride

    Energy Technology Data Exchange (ETDEWEB)

    Link, J. M.; Shoner, S. C.; Krohn, K. A. [University of Washington, Department of Radiology, Molecular Imaging Center, 1959 NE Pacific St., Box 356004, Seattle, WA 98195-6004 (United States)

    2012-12-19

    Fluorine-18 is used for many PET radiopharmaceuticals. Theoretically {sup 18}F should be carrier free and a good candidate for nanochemistry. However, {sup 18}F has 10 to 1000 times more stable fluorine atoms than radioactive atoms. In order to understand the source of carrier fluoride and other ions associated with {sup 18}F radiosynthesis, anion concentrations of different components of {sup 18}F target systems as well as solvents and chemicals used in radiosynthesis were measured. Results: The enriched water used for production of {sup 18}F had low levels of anions. In general, the sources of anions, particularly of fluoride, were the chemical reagents used for synthesis and trace contaminants in tubing, valves and fittings. A major component of contamination was nitrate from irradiation of dissolved nitrogen gas in the target water.

  8. Asymptomatic carriers contribute to nosocomial Clostridium difficile infection

    DEFF Research Database (Denmark)

    Blixt, Thomas; Gradel, Kim Oren; Homann, Christian

    2017-01-01

    BACKGROUND & AIMS: Nosocomial infection with Clostridium difficile pose a considerable problem despite numerous attempts by health care workers to reduce risk of transmission. Asymptomatic carriers of C difficile might spread their infection to other patients. We investigated the effects...... of of asymptomatic carriers on nosocomial C difficile infections. METHODS: We performed a population-based prospective cohort study at 2 university hospitals in Denmark, screening all patients for toxigenic C difficile in the intestine upon admittance, from October 1, 2012, to January 31, 2013. Screening results...... were blinded to patients, staff, and researchers. Patients were followed during their hospital stay by daily registration of wards and patient rooms. The primary outcomes were rate of C difficile infection in exposed and unexposed patients and factors associated with transmission. RESULTS: C difficile...

  9. Evaluating multicast resilience in carrier ethernet

    DEFF Research Database (Denmark)

    Ruepp, Sarah Renée; Wessing, Henrik; Zhang, Jiang

    2010-01-01

    This paper gives an overview of the Carrier Ethernet technology with specific focus on resilience. In particular, we show how multicast traffic, which is essential for IPTV can be protected. We detail the ackground for resilience mechanisms and their control and e present Carrier Ethernet...... resilience methods for linear nd ring networks. By simulation we show that the vailability of a multicast connection can be significantly increased by applying protection methods....

  10. Synthetic Lipoproteins as Carriers for Drug Delivery.

    Science.gov (United States)

    Huang, Gangliang; Liu, Yang; Huang, Hualiang

    2016-01-01

    Synthetic lipoprotein is an effective carrier of targeted delivery for drugs. It has the very small size, good biocompatibility, suitable half-life, and specific lipoprotein receptorbinding capacity. Compared with the traditional natural lipoprotein, synthetic lipoprotein not only retains the original biological characteristics and functions, but also exhibits the excellent characteristics in drug delivery. Herein, the advantages, development, applications, and prospect of synthetic lipoproteins as drug carriers were summarized.

  11. Ultrafast carrier dynamics in a p-type GaN wafer under different carrier distributions

    Science.gov (United States)

    Fang, Yu; Yang, Junyi; Yang, Yong; Wu, Xingzhi; Xiao, Zhengguo; Zhou, Feng; Song, Yinglin

    2016-02-01

    The dependence of the carrier distribution on photoexcited carrier dynamics in a p-type Mg-doped GaN (GaN:Mg) wafer were systematically measured by femtosecond transient absorption (TA) spectroscopy. The homogeneity of the carrier distribution was modified by tuning the wavelength of the UV pulse excitation around the band gap of GaN:Mg. The TA kinetics appeared to be biexponential for all carrier distributions, and only the slower component decayed faster as the inhomogeneity of the carrier distribution increased. It was concluded that the faster component (50-70 ps) corresponded to the trap process of holes by the Mg acceptors, and the slower component (150-600 ps) corresponded to the combination of non-radiative surface recombination and intrinsic carrier recombination via dislocations. Moreover, the slower component increased gradually with the incident fluence due to the saturation of surface states.

  12. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

    DEFF Research Database (Denmark)

    Antoniou, Antonis C; Wang, Xianshu; Fredericksen, Zachary S

    2010-01-01

    associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR...... and 3,949 controls (P(trend) = 1 × 10⁻⁷) to P(trend) = 8 × 10⁻⁵; rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P(trend) = 1.1 × 10⁻⁷...

  13. Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review

    OpenAIRE

    Wain, K.E.; Ellingson, M.S.; McDonald, J.; Gammon, A.; Roberts, M.; Pichurin, P.; Winship, I.; Riegert-Johnson, D.; Weitzel, J. N.; Lindor, N.M.

    2014-01-01

    Heterozygous loss-of-function (LOF) SMAD4 mutations are associated with juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT). Some carriers exhibit symptoms of both conditions, leading to the name JP-HHT syndrome. Three families have been reported with connective tissue abnormalities. In order to better understand the spectrum and extent of clinical findings in SMAD4 carriers, medical records of 34 patients (20 families) from five clinical practices were reviewed. ...

  14. Antiphospholipid antibodies in Brazilian hepatitis C virus carriers

    Directory of Open Access Journals (Sweden)

    A.M. Atta

    2008-06-01

    Full Text Available Hepatitis C, a worldwide viral infection, is an important health problem in Brazil. The virus causes chronic infection, provoking B lymphocyte dysfunction, as represented by cryoglobulinemia, non-organ-specific autoantibody production, and non-Hodgkin's lymphoma. The aim of this research was to screen for the presence of antiphospholipid autoantibodies in 109 Brazilian hepatitis C virus carriers without clinical history of antiphospholipid syndrome. Forty healthy individuals were used as the control group. IgA, IgG, and IgM antibodies against cardiolipin and β2-glycoprotein I were measured with an enzyme-linked immunosorbent assay, using a cut-off point of either 20 UPL or 20 SBU. While 24 (22.0% hepatitis C carriers had moderate titers of IgM anticardiolipin antibodies (median, 22.5 MPL; 95%CI: 21.5-25.4 MPL, only three carriers (<3% had IgG anticardiolipin antibodies (median, 23 GPL; 95%CI: 20.5-25.5 GPL. Furthermore, IgA anticardiolipin antibodies were not detected in these individuals. Male gender and IgM anticardiolipin seropositivity were associated in the hepatitis C group (P = 0.0004. IgA anti-β2-glycoprotein-I antibodies were detected in 29 of 109 (27.0% hepatitis C carriers (median, 41 SAU; 95%CI: 52.7-103.9 SAU. Twenty patients (18.0% had IgM anti-β2-glycoprotein I antibodies (median, 27.6 SMU; 95%CI: 23.3-70.3 SMU, while two patients had IgG antibodies against this protein (titers, 33 and 78 SGU. Antiphospholipid antibodies were detected in only one healthy individual, who was seropositive for IgM anticardiolipin. We concluded that Brazilian individuals chronically infected with hepatitis C virus present a significant production of antiphospholipid antibodies, mainly IgA anti-β2-glycoprotein I antibodies, which are not associated with clinical manifestations of antiphospholipid syndrome.

  15. The Kinetics of Carrier Transport Inhibition

    DEFF Research Database (Denmark)

    Rosenberg, T.; Wilbrandt, Robert Walter

    1962-01-01

    The kinetical treatment of enzymatic carrier transports as given in previous communications has been extended to conditions of inhibition. Various possible types of inhibitors have been considered differing in the site of attack (enzyme or carrier), in the mode of action (competing with the subst......The kinetical treatment of enzymatic carrier transports as given in previous communications has been extended to conditions of inhibition. Various possible types of inhibitors have been considered differing in the site of attack (enzyme or carrier), in the mode of action (competing...... with the substrate for the enzyme or the carrier or for both, competing with the carrier for the enzyme, or non-competitive) and in the ability of penetrating the membrane. Experiments are reported on the inhibition of glucose and fructose transport across the human red cell membrane by phlorizine, phloretine...... and polyphloretinephosphate. The results of the analysis for these inhibitors indicate a substrate competitive mode of action. The effect of reversing the transport direction by interchanging the substrate concentration has been treated for the case of a non-penetrating substrate competitive inhibitor in the external medium...

  16. 14 CFR 272.9 - Selection of a carrier to provide essential air service and payment of compensation.

    Science.gov (United States)

    2010-01-01

    ... SECRETARY, DEPARTMENT OF TRANSPORTATION (AVIATION PROCEEDINGS) ECONOMIC REGULATIONS ESSENTIAL AIR SERVICE TO THE FREELY ASSOCIATED STATES § 272.9 Selection of a carrier to provide essential air service and... 14 Aeronautics and Space 4 2010-01-01 2010-01-01 false Selection of a carrier to provide essential...

  17. Determine the optimal carrier selection for a logistics network based on multi-commodity reliability criterion

    Science.gov (United States)

    Lin, Yi-Kuei; Yeh, Cheng-Ta

    2013-05-01

    From the perspective of supply chain management, the selected carrier plays an important role in freight delivery. This article proposes a new criterion of multi-commodity reliability and optimises the carrier selection based on such a criterion for logistics networks with routes and nodes, over which multiple commodities are delivered. Carrier selection concerns the selection of exactly one carrier to deliver freight on each route. The capacity of each carrier has several available values associated with a probability distribution, since some of a carrier's capacity may be reserved for various orders. Therefore, the logistics network, given any carrier selection, is a multi-commodity multi-state logistics network. Multi-commodity reliability is defined as a probability that the logistics network can satisfy a customer's demand for various commodities, and is a performance indicator for freight delivery. To solve this problem, this study proposes an optimisation algorithm that integrates genetic algorithm, minimal paths and Recursive Sum of Disjoint Products. A practical example in which multi-sized LCD monitors are delivered from China to Germany is considered to illustrate the solution procedure.

  18. Altered erythropoiesis and iron metabolism in carriers of thalassemia

    Science.gov (United States)

    Guimarães, Jacqueline S.; Cominal, Juçara G.; Silva-Pinto, Ana Cristina; Olbina, Gordana; Ginzburg, Yelena Z.; Nandi, Vijay; Westerman, Mark; Rivella, Stefano; de Souza, Ana Maria

    2014-01-01

    The thalassemia syndromes (α- and β-thalassemia) are the most common and frequent disorders associated with ineffective erythropoiesis. Imbalance of α- or β-globin chain production results in impaired red blood cell synthesis, anemia and more erythroid progenitors in the blood stream. While patients affected by these disorders show definitive altered parameters related to erythropoiesis, the relationship between the degree of anemia, altered erythropoiesis and dysfunctional iron metabolism have not been investigated in both α-thalassemia carriers (ATC) and β-thalassemia carriers (BTC). Here we demonstrate that ATC have a significantly reduced hepcidin and increased soluble transferrin receptor levels but relatively normal hematological findings. In contrast, BTC have several hematological parameters significantly different from controls, including increased soluble transferrin receptor and erythropoietin levels. These changings in both groups suggest an altered balance between erythropoiesis and iron metabolism. The index sTfR/log ferrin and (hepcidin/ferritin)/sTfR are respectively increased and reduced relative to controls, proportional to the severity of each thalassemia group. In conclusion, we showed in this study, for the first time in the literature, that thalassemia carriers have altered iron metabolism and erythropoiesis. PMID:25307880

  19. Performance of Uplink Carrier Aggregation in LTE-Advanced Systems

    DEFF Research Database (Denmark)

    Wang, Hua; Rosa, Claudio; Pedersen, Klaus

    2010-01-01

    Carrier aggregation (CA) has been proposed to aggregate two or more component carriers (CCs) to support a much wider transmission bandwidth for LTE-Advanced systems. With carrier aggregation, it is possible to schedule a user equipment (UE) on multiple component carriers simultaneously. In this p...

  20. Extracting hot carriers from photoexcited semiconductor nanocrystals

    Energy Technology Data Exchange (ETDEWEB)

    Zhu, Xiaoyang

    2014-12-10

    This research program addresses a fundamental question related to the use of nanomaterials in solar energy -- namely, whether semiconductor nanocrystals (NCs) can help surpass the efficiency limits, the so-called “Shockley-Queisser” limit, in conventional solar cells. In these cells, absorption of photons with energies above the semiconductor bandgap generates “hot” charge carriers that quickly “cool” to the band edges before they can be utilized to do work; this sets the solar cell efficiency at a limit of ~31%. If instead, all of the energy of the hot carriers could be captured, solar-to-electric power conversion efficiencies could be increased, theoretically, to as high as 66%. A potential route to capture this energy is to utilize semiconductor nanocrystals. In these materials, the quasi-continuous conduction and valence bands of the bulk semiconductor become discretized due to confinement of the charge carriers. Consequently, the energy spacing between the electronic levels can be much larger than the highest phonon frequency of the lattice, creating a “phonon bottleneck” wherein hot-carrier relaxation is possible via slower multiphonon emission. For example, hot-electron lifetimes as long as ~1 ns have been observed in NCs grown by molecular beam epitaxy. In colloidal NCs, long lifetimes have been demonstrated through careful design of the nanocrystal interfaces. Due to their ability to slow electronic relaxation, semiconductor NCs can in principle enable extraction of hot carriers before they cool to the band edges, leading to more efficient solar cells.

  1. Carbon: Hydrogen carrier or disappearing skeleton?

    International Nuclear Information System (INIS)

    De Jong, K.P.; Van Wechem, H.M.H.

    1994-01-01

    The use of liquid hydrocarbons as energy carriers implies the use of carbon as a carrier for hydrogen to facilitate hydrogen transport and storage. The current trend for liquid energy carriers used in the transport sector is to maximize the load of hydrogen on the carbon carrier. The recently developed Shell Middle Distillate Hydrogenation process for the manufacture of high quality diesel from aromatic refinery streams fits this picture. In the future, the hydrogen required to raise the product H/C ratio will be increasingly produced via gasification of large amounts of heavy residues. In the light of the strong preference towards using liquid fuels in the transport sector, the Shell Middle Distillate Synthesis process to convert natural gas into diesel of very high quality is discussed. Finally, a few comments on the use of hydrogen without a carbon carrier are made. Long lead times and the likelihood of producing the 'first' hydrogen from fossil fuel are highlighted. 13 figs., 6 tabs., 5 refs

  2. Estimating Motor Carrier Management Information System Crash File Underreporting from Carrier Records.

    Science.gov (United States)

    2017-08-01

    This FMCSA-sponsored research investigated the claim that motor carriers have a substantial number of crashes in their own records that are not contained in the Motor Carrier Management Information System (MCMIS) crash file. Based on the results of t...

  3. Estimating motor carrier management information system crash file underreporting from carrier records : research brief.

    Science.gov (United States)

    2017-08-01

    This study estimated a significant amount of underreporting to the MCMIS crash file by the States, for the carriers who cooperated in the study. For the study carriers, it appears that the MCMIS file contained about 66 percent of their reportable cra...

  4. Charge-carrier mobilities in disordered semiconducting polymers: effects of carrier density and electric field [refereed

    NARCIS (Netherlands)

    Meisel, K.D.; Pasveer, W.F.; Cottaar, J.; Tanase, C.; Coehoorn, R.; Bobbert, P.A.; Blom, P.W.M.; Leeuw, de D.M.; Michels, M.A.J.

    2006-01-01

    We model charge transport in disordered semiconducting polymers by hopping of charge carriers on a square lattice of sites with Gaussian on-site energy disorder, using Fermi-Dirac statistics. From numerically exact solns. of the Master equation, we study the dependence of the charge-carrier mobility

  5. Charge-carrier mobilities in disordered semiconducting polymers : effects of carrier density and electric field

    NARCIS (Netherlands)

    Meisel, K.D.; Pasveer, W.F.; Cottaar, J.; Tanase, C.; Coehoorn, R.; Bobbert, P.A.; Blom, P.W.M.; Leeuw, D.M. de; Michels, M.A.J.

    2006-01-01

    We model charge transport in disordered semiconducting polymers by hopping of charge carriers on a square lattice of sites with Gaussian on-site energy disorder, using Fermi-Dirac statistics. From numerically exact solutions of the Master equation, we study the dependence of the charge-carrier

  6. Tuning carrier mobility of phosphorene nanoribbons by edge passivation and strain

    International Nuclear Information System (INIS)

    Zhang, Xiaoou; Li, Qingfang; Xu, Bo; Wan, Bo; Yin, Jiang; Wan, X.G.

    2016-01-01

    Using first-principles calculations, we have studied the effects of different edge passivation groups on the carrier mobility of the phosphorene nanoribbons (PNRs) and strain effect on the transport property in passivated PNRs. The numerical results show that the size-dependent carrier mobility of passivated PNRs is not very sensitive to the different passivation groups, such as hydrogen (H), fluorine (F) and chlorine (Cl), but strongly associated with the orientation of nanoribbons. Passivated armchair-PNR has much larger carrier mobility than passivated zigzag-PNR at the similar ribbon width. With increasing ribbon width, the electron mobility of passivated PNRs can be further enhanced. We also find that the anisotropy of carrier mobility in passivated PNRs can be reversed by applying tensile strain resulting from order switching of the conduction bands around Fermi level.

  7. Tuning carrier mobility of phosphorene nanoribbons by edge passivation and strain

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Xiaoou [National Laboratory of Solid State Microstructures, College of Physics, Nanjing University, Nanjing 210093 (China); Li, Qingfang, E-mail: qingfangli@nuist.edu.cn [National Laboratory of Solid State Microstructures, College of Physics, Nanjing University, Nanjing 210093 (China); Department of Physics, Nanjing University of Information Science & Technology, Nanjing 210044 (China); Xu, Bo, E-mail: xubonju@gmail.com [National Laboratory of Solid State Microstructures and Department of Materials Science and Engineering, Nanjing University, Nanjing 210093 (China); Wan, Bo [National Laboratory of Solid State Microstructures, College of Physics, Nanjing University, Nanjing 210093 (China); Yin, Jiang [National Laboratory of Solid State Microstructures and Department of Materials Science and Engineering, Nanjing University, Nanjing 210093 (China); Wan, X.G. [National Laboratory of Solid State Microstructures, College of Physics, Nanjing University, Nanjing 210093 (China)

    2016-02-05

    Using first-principles calculations, we have studied the effects of different edge passivation groups on the carrier mobility of the phosphorene nanoribbons (PNRs) and strain effect on the transport property in passivated PNRs. The numerical results show that the size-dependent carrier mobility of passivated PNRs is not very sensitive to the different passivation groups, such as hydrogen (H), fluorine (F) and chlorine (Cl), but strongly associated with the orientation of nanoribbons. Passivated armchair-PNR has much larger carrier mobility than passivated zigzag-PNR at the similar ribbon width. With increasing ribbon width, the electron mobility of passivated PNRs can be further enhanced. We also find that the anisotropy of carrier mobility in passivated PNRs can be reversed by applying tensile strain resulting from order switching of the conduction bands around Fermi level.

  8. Short communication an interferon-γ ELISPOT assay with two cytotoxic T cell epitopes derived from HTLV-1 tax region 161-233 discriminates HTLV-1-associated myelopathy/tropical spastic paraparesis patients from asymptomatic HTLV-1 carriers in a Peruvian population.

    Science.gov (United States)

    Best, Ivan; López, Giovanni; Talledo, Michael; MacNamara, Aidan; Verdonck, Kristien; González, Elsa; Tipismana, Martín; Asquith, Becca; Gotuzzo, Eduardo; Vanham, Guido; Clark, Daniel

    2011-11-01

    HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic and progressive disorder caused by the human T-lymphotropic virus type 1 (HTLV-1). In HTLV-1 infection, a strong cytotoxic T cell (CTL) response is mounted against the immunodominant protein Tax. Previous studies carried out by our group reported that increased IFN-γ enzyme-linked immunospot (ELISPOT) responses against the region spanning amino acids 161 to 233 of the Tax protein were associated with HAM/TSP and increased HTLV-1 proviral load (PVL). An exploratory study was conducted on 16 subjects with HAM/TSP, 13 asymptomatic carriers (AC), and 10 HTLV-1-seronegative controls (SC) to map the HAM/TSP-associated CTL epitopes within Tax region 161-233. The PVL of the infected subjects was determined and the specific CTL response was evaluated with a 6-h incubation IFN-γ ELISPOT assay using peripheral blood mononuclear cells (PBMCs) stimulated with 16 individual overlapping peptides covering the Tax region 161-233. Other proinflammatory and Th1/Th2 cytokines were also quantified in the supernatants by a flow cytometry multiplex assay. In addition, a set of human leukocyte antigen (HLA) class I alleles that bind with high affinity to the CTL epitopes of interest was determined using computational tools. Univariate analyses identified an association between ELISPOT responses to two new CTL epitopes, Tax 173-185 and Tax 181-193, and the presence of HAM/TSP as well as an increased PVL. The HLA-A*6801 allele, which is predicted to bind to the Tax 181-193 peptide, was overpresented in the HAM/TSP patients tested.

  9. Protection switching for carrier ethernet multicast

    DEFF Research Database (Denmark)

    Ruepp, Sarah Renée; Wessing, Henrik; Berger, Michael Stübert

    2010-01-01

    This paper addresses network survivability for IPTV multicast transport in Carrier Ethernet networks. The impact of link failures is investigated and suggestions for intelligent multicast resilience schemes are proposed. In particular, functions of the multicast tree are integrated with the Carri...... recovery path length, recovery time, number of branch nodes and operational complexity. The integrated approach therefore shows significant potential to increase the QoE for IPTV users in case of network failures and recovery actions.......This paper addresses network survivability for IPTV multicast transport in Carrier Ethernet networks. The impact of link failures is investigated and suggestions for intelligent multicast resilience schemes are proposed. In particular, functions of the multicast tree are integrated with the Carrier...

  10. Natural carriers in bioremediation: A review

    Directory of Open Access Journals (Sweden)

    Anna Dzionek

    2016-09-01

    Full Text Available Bioremediation of contaminated groundwater or soil is currently the cheapest and the least harmful method of removing xenobiotics from the environment. Immobilization of microorganisms capable of degrading specific contaminants significantly promotes bioremediation processes, reduces their costs, and also allows for the multiple use of biocatalysts. Among the developed methods of immobilization, adsorption on the surface is the most common method in bioremediation, due to the simplicity of the procedure and its non-toxicity. The choice of carrier is an essential element for successful bioremediation. It is also important to consider the type of process (in situ or ex situ, type of pollution, and properties of immobilized microorganisms. For these reasons, the article summarizes recent scientific reports about the use of natural carriers in bioremediation, including efficiency, the impact of the carrier on microorganisms and contamination, and the nature of the conducted research.

  11. Hiding secret data into a carrier image

    Directory of Open Access Journals (Sweden)

    Ovidiu COSMA

    2012-06-01

    Full Text Available The object of steganography is embedding hidden information in an appropriate multimedia carrier, e.g., image, audio, or video. There are several known methods of solving this problem, which operate either in the space domain or in the frequency domain, and are distinguished by the following characteristics: payload, robustness and strength. The payload is the amount of secret data that can be embedded in the carrier without inducing suspicious artefacts, robustness indicates the degree in which the secret data is affected by the normal processing of the carrier e.g., compression, and the strength indicate how easy the presence of hidden data can be detected by steganalysis techniques. This paper presents a new method of hiding secret data into a digital image compressed by a technique based on the Discrete Wavelet Transform (DWT [2] and the Set Partitioning In Hierarchical Trees (SPIHT subband coding algorithm [6]. The proposed method admits huge payloads and has considerable strength.

  12. Towards 100 gigabit carrier ethernet transport networks

    DEFF Research Database (Denmark)

    Rasmussen, Anders; Zhang, Jiang; Yu, Hao

    2010-01-01

    technology, making the use of Ethernet as a convergence layer for Next Generation Networks a distinct possibility. Triple Play services, in particular IPTV, are expected to be a main drivers for carrier Ethernet, however, a number of challenges must be addressed including QoS enabled control plane, enhanced......Ethernet as a transport technology has, up to now, lacked the features such as network layer architecture, customer separation and manageability that carriers require for wide-scale deployment. However, with the advent of PBB-TE and TMPLS, it is now possible to use Ethernet as a transport...

  13. Interface recombination influence on carrier transport

    International Nuclear Information System (INIS)

    Konin, A

    2013-01-01

    A theory of interface recombination in the semiconductor–semiconductor junction is developed. The interface recombination rate dependence on the nonequilibrium carrier densities is derived on the basis of a model in which the interface recombination occurs through the mechanism of trapping. The general relation between the interface recombination parameters at small carrier density deviation from the equilibrium ones is obtained. The validity of this relation is proved considering the generation of the Hall electric field in the extrinsic semiconductor sample. The anomalous Hall electromotive force in a weak magnetic field was investigated and interpreted by means of a new interface recombination model. The experimental data corroborate the developed theory. (paper)

  14. Hot-carrier effects in MOS devices

    CERN Document Server

    Takeda, Eiji; Miura-Hamada, Akemi

    1995-01-01

    The exploding number of uses for ultrafast, ultrasmall integrated circuits has increased the importance of hot-carrier effects in manufacturing as well as for other technological applications. They are rapidly movingout of the research lab and into the real world.This book is derived from Dr. Takedas book in Japanese, Hot-Carrier Effects, (published in 1987 by Nikkei Business Publishers). However, the new book is much more than a translation. Takedas original work was a starting point for developing this much more complete and fundamental text on this increasingly important topic. The new work

  15. Ultrafast Carrier Trapping of a Metal-Doped Titanium Dioxide Semiconductor Revealed by Femtosecond Transient Absorption Spectroscopy

    KAUST Repository

    Sun, Jingya; Yang, Yang; Khan, Jafar I.; Alarousu, Erkki; Guo, Zaibing; Zhang, Xixiang; Zhang, Qiang; Mohammed, Omar F.

    2014-01-01

    We explored for the first time the ultrafast carrier trapping of a metal-doped titanium dioxide (TiO2) semiconductor using broad-band transient absorption (TA) spectroscopy with 120 fs temporal resolution. Titanium dioxide was successfully doped layer-by-layer with two metal ions, namely tungsten and cobalt. The time-resolved data demonstrate clearly that the carrier trapping time decreases progressively as the doping concentration increases. A global-fitting procedure for the carrier trapping suggests the appearance of two time components: a fast one that is directly associated with carrier trapping to the defect state in the vicinity of the conduction band and a slow one that is attributed to carrier trapping to the deep-level state from the conduction band. With a relatively long doping deposition time on the order of 30 s, a carrier lifetime of about 1 ps is obtained. To confirm that the measured ultrafast carrier dynamics are associated with electron trapping by metal doping, we explored the carrier dynamics of undoped TiO2. The findings reported here may be useful for the implementation of high-speed optoelectronic applications and fast switching devices.

  16. Ultrafast Carrier Trapping of a Metal-Doped Titanium Dioxide Semiconductor Revealed by Femtosecond Transient Absorption Spectroscopy

    KAUST Repository

    Sun, Jingya

    2014-06-11

    We explored for the first time the ultrafast carrier trapping of a metal-doped titanium dioxide (TiO2) semiconductor using broad-band transient absorption (TA) spectroscopy with 120 fs temporal resolution. Titanium dioxide was successfully doped layer-by-layer with two metal ions, namely tungsten and cobalt. The time-resolved data demonstrate clearly that the carrier trapping time decreases progressively as the doping concentration increases. A global-fitting procedure for the carrier trapping suggests the appearance of two time components: a fast one that is directly associated with carrier trapping to the defect state in the vicinity of the conduction band and a slow one that is attributed to carrier trapping to the deep-level state from the conduction band. With a relatively long doping deposition time on the order of 30 s, a carrier lifetime of about 1 ps is obtained. To confirm that the measured ultrafast carrier dynamics are associated with electron trapping by metal doping, we explored the carrier dynamics of undoped TiO2. The findings reported here may be useful for the implementation of high-speed optoelectronic applications and fast switching devices.

  17. Radioimmunoassay in the detection of the hepatitis Be antigen/antibody system in asymptomatic carriers of hepatitis B surface antigen

    International Nuclear Information System (INIS)

    Pastore, G.; Dentico, P.; Angarano, G.; Schiraldi, O.; Zanetti, A.R.; Ferroni, P.

    1980-01-01

    A radioimmunoassay for hepatitis e antigen (HBeAg) and antibody to e (anti-HBe) was developed and sera of 71 asymptomatic chronic carriers of hepatitis B surface antigen (HBsAg), in 44 of whom liver biopsy was obtained, were tested. In addition, testing for Dane particle associated DNA polymerase activity was performed in all sera. HBeAg was detected in 14 subjects (19.7%) and anti-HBe in 46 (64.8%). The highest proportion of HBeAg positivity (40%) was found among carriers with histological evidence of chronic hepatitis, whereas anti-HBe was present in 80% of carriers with normal liver histology, in 58% of carriers with non-specific reactive hepatitis and in 60% of carriers with chronic liver lesions. DNA polymerase activity was present in 92.8% of sera positive for HBeAg, in 13% of sera positive for anti HBe, and in 9% of sera negative for both markers. Our results demonstrate that not all HBsAg carriers reactive to HBeAg show evidence of chronic hepatitis nor, conversely, that anti-HBe is invariably associated with the healthy carrier state of HBsAg. Finally, circulating Dane particles, as revealed by the presence of serum specific DNA polymerase activity, may also be present in anti-HBe positive sera other than those of some HBsAg carriers lacking both HBeAg and anti-HBe. (orig.) [de

  18. 78 FR 72146 - Motor Carrier Management Information System (MCMIS) Changes to Improve Uniformity in the...

    Science.gov (United States)

    2013-12-02

    ...-0457] Motor Carrier Management Information System (MCMIS) Changes to Improve Uniformity in the... Management Information System (MCMIS) to allow the Agency to upload the results of associated adjudicated... information concerning a citation associated with a violation that was dismissed or resulted in a finding of...

  19. Solid state cloaking for electrical charge carrier mobility control

    Science.gov (United States)

    Zebarjadi, Mona; Liao, Bolin; Esfarjani, Keivan; Chen, Gang

    2015-07-07

    An electrical mobility-controlled material includes a solid state host material having a controllable Fermi energy level and electrical charge carriers with a charge carrier mobility. At least one Fermi level energy at which a peak in charge carrier mobility is to occur is prespecified for the host material. A plurality of particles are distributed in the host material, with at least one particle disposed with an effective mass and a radius that minimize scattering of the electrical charge carriers for the at least one prespecified Fermi level energy of peak charge carrier mobility. The minimized scattering of electrical charge carriers produces the peak charge carrier mobility only at the at least one prespecified Fermi level energy, set by the particle effective mass and radius, the charge carrier mobility being less than the peak charge carrier mobility at Fermi level energies other than the at least one prespecified Fermi level energy.

  20. Biological functionalization of drug delivery carriers to bypass size restrictions of receptor-mediated endocytosis independently from receptor targeting.

    Science.gov (United States)

    Ansar, Maria; Serrano, Daniel; Papademetriou, Iason; Bhowmick, Tridib Kumar; Muro, Silvia

    2013-12-23

    Targeting of drug carriers to cell-surface receptors involved in endocytosis is commonly used for intracellular drug delivery. However, most endocytic receptors mediate uptake via clathrin or caveolar pathways associated with ≤200-nm vesicles, restricting carrier design. We recently showed that endocytosis mediated by intercellular adhesion molecule 1 (ICAM-1), which differs from clathrin- and caveolae-mediated pathways, allows uptake of nano- and microcarriers in cell culture and in vivo due to recruitment of cellular sphingomyelinases to the plasmalemma. This leads to ceramide generation at carrier binding sites and formation of actin stress-fibers, enabling engulfment and uptake of a wide size-range of carriers. Here we adapted this paradigm to enhance uptake of drug carriers targeted to receptors associated with size-restricted pathways. We coated sphingomyelinase onto model (polystyrene) submicro- and microcarriers targeted to clathrin-associated mannose-6-phosphate receptor. In endothelial cells, this provided ceramide enrichment at the cell surface and actin stress-fiber formation, modifying the uptake pathway and enhancing carrier endocytosis without affecting targeting, endosomal transport, cell-associated degradation, or cell viability. This improvement depended on the carrier size and enzyme dose, and similar results were observed for other receptors (transferrin receptor) and cell types (epithelial cells). This phenomenon also enhanced tissue accumulation of carriers after intravenous injection in mice. Hence, it is possible to maintain targeting toward a selected receptor while bypassing natural size restrictions of its associated endocytic route by functionalization of drug carriers with biological elements mimicking the ICAM-1 pathway. This strategy holds considerable promise to enhance flexibility of design of targeted drug delivery systems.

  1. AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A CIMBA study

    Science.gov (United States)

    Couch, Fergus J.; Sinilnikova, Olga; Vierkant, Robert A; Pankratz, V. Shane; Fredericksen, Zachary S.; Stoppa-Lyonnet, Dominique; Coupier, Isabelle; Hughes, David; Hardouin, Agnès; Berthet, Pascaline; Peock, Susan; Cook, Margaret; Baynes, Caroline; Hodgson, Shirley; Morrison, Patrick J.; Porteous, Mary E.; Jakubowska, Anna; Lubinski, Jan; Gronwald, Jacek; Spurdle, Amanda B.; Schmutzler, Rita; Versmold, Beatrix; Engel, Christoph; Meindl, Alfons; Sutter, Christian; Horst, Jurgen; Schaefer, Dieter; Offit, Kenneth; Kirchhoff, Tomas; Andrulis, Irene L.; Ilyushik, Eduard; Glendon, Gordon; Devilee, Peter; Vreeswijk, Maaike P.G.; Vasen, Hans F.A.; Borg, Ake; Backenhorn, Katja; Struewing, Jeffery P.; Greene, Mark H.; Neuhausen, Susan L.; Rebbeck, Timothy R.; Nathanson, Katherine; Domchek, Susan; Wagner, Theresa; Garber, Judy E.; Szabo, Csilla; Zikan, Michal; Foretova, Lenka; Olson, Janet E.; Sellers, Thomas A.; Lindor, Noralane; Nevanlinna, Heli; Tommiska, Johanna; Aittomaki, Kristiina; Hamann, Ute; Rashid, Muhammad U.; Torres, Diana; Simard, Jacques; Durocher, Francine; Guenard, Frederic; Lynch, Henry T.; Isaacs, Claudine; Weitzel, Jeffrey; Olopade, Olufunmilayo I.; Narod, Steven; Daly, Mary B.; Godwin, Andrew K.; Tomlinson, Gail; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniouon, Antonis C.

    2009-01-01

    The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 co-operate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). CIMBA was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4935 BRCA1 and 2241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations were genotyped for F31I. Overall, homozygosity for the 31I allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined (HR = 0.91; 95% CI 0.77-1.06). Similarly, no significant association was seen in BRCA1 (HR = 0.90; 95% CI 0.75-1.08) or BRCA2 carriers (HR = 0.93; 95% CI 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers. PMID:17627006

  2. Carrier portfolio management for shipping seasonal products

    NARCIS (Netherlands)

    Lu, T.; Fransoo, J.C.; Lee, C.-Y.

    2017-01-01

    Many seasonal products are transported via ocean carriers from origin to destination markets. The shipments arriving earlier in the market may sell at higher prices, but faster shipping services can be costly. In this paper, we study a newsvendor-type shipper who transports and sells seasonal

  3. OCP: Opportunistic Carrier Prediction for Wireless Networks

    Science.gov (United States)

    2008-08-01

    Many protocols have been proposed for medium access control in wireless networks. MACA [13], MACAW [3], and FAMA [8] are the earlier proposals for...world performance of carrier sense. In Proceedings of ACM SIGCOMM E-WIND Workshop, 2005. [13] P. Karn. MACA : A new channel access method for packet radio

  4. A new lubricant carrier for metal forming

    DEFF Research Database (Denmark)

    Arentoft, Mogens; Bay, Niels; Tang, Peter Torben

    2009-01-01

    A lubricant carrier for metal forming processes is developed. Surfaces with pores of micrometer size for entrapping lubricant are generated by electrochemical deposition of an alloy, consisting of two immiscible metals, of which one metal subsequently is etched away leaving 5 mu m layers with a s...... extrusion at high reduction and excessive stroke comparing with conventionally lubrication using phosphate coating and soap....

  5. Probing ultrafast carrier dynamics, nonlinear absorption

    Indian Academy of Sciences (India)

    We investigate the relaxation dynamics of photogenerated carriers in silicon nanowires consisting of a crystalline core and a surrounding amorphous shell, using femtosecond time resolved differential reflectivity and transmission spectroscopy at 3.15 eV and 1.57 eV photon energies. The complex behaviour of the ...

  6. European regulatory framework for person carrier robots

    NARCIS (Netherlands)

    Fosch Villaronga, E.; Roig, A.

    The aim of this paper is to establish the grounds for a future regulatory framework for Person Carrier Robots, which includes legal and ethical aspects. Current industrial standards focus on physical human–robot interaction, i.e. on the prevention of harm. Current robot technology nonetheless

  7. On safety of radioactive waste carrier

    International Nuclear Information System (INIS)

    Kondo, Toshikazu

    1995-01-01

    The waste generated by reprocessing the spent fuel from Japanese nuclear power stations in France and U.K. is to be returned to Japan. The first return transport was carried out from February to April when the waste management facility in Rokkasho, Aomori Prefecture, was completed. Most of this return transport was the sea transport using the exclusively used carrier, Pacific Pintail, from Cherbourg, France, to Mutsu Ogawara, Japan. Ministry of Transport carried out the examination on the safety of this method of transport including the safety of the carrier based on the rule for the sea transport and storage of dangerous substances. The international rule on the sea transport of high level radioactive waste, the course of adopting the INF code and its outline, and the Japanese safety standard for the carriers exclusively used for high level radioactive waste are explained. The Pacific Pintail is the ship of 5087 GT, which was built in 1987 as the carrier exclusively used for radioactive substances, owned by Pacific Nuclear Transport Ltd. of U.K. The main features related to the safety of the Pacific Pintail are explained, and the sufficient countermeasures are taken. (K.I.)

  8. Delineation of the working memory profile in female FMR1 premutation carriers: the effect of cognitive load on ocular motor responses.

    Science.gov (United States)

    Shelton, Annie L; Cornish, Kim M; Godler, David E; Clough, Meaghan; Kraan, Claudine; Bui, Minh; Fielding, Joanne

    2015-04-01

    Fragile X mental retardation 1 (FMR1) premutation carriers (PM-carriers) are characterised as having mid-sized expansions of between 55 and 200 CGG repeats in the 5' untranslated region of the FMR1 gene. While there is evidence of executive dysfunction in PM-carriers, few studies have explicitly explored working memory capabilities in female PM-carriers. 14 female PM-carriers and 13 age- and IQ-matched healthy controls completed an ocular motor n-back working memory paradigm. This task examined working memory ability and the effect of measured increases in cognitive load. Female PM-carriers were found to have attenuated working memory capabilities. Increasing the cognitive load did not elicit the expected reciprocal increase in the task errors for female PM-carriers, as it did in controls. However female PM-carriers took longer to respond than controls, regardless of the cognitive load. Further, FMR1 mRNA levels were found to significantly predict PM-carrier response time. Although preliminary, these findings provide further evidence of executive dysfunction, specifically disruption to working memory processes, which were found to be associated with increases in FMR1 mRNA expression in female PM-carriers. With future validation, ocular motor paradigms such as the n-back paradigm will be critical to the development of behavioural biomarkers for identification of PM-carrier cognitive-affective phenotypes. Copyright © 2015 Elsevier B.V. All rights reserved.

  9. Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.

    Science.gov (United States)

    López-Mourelo, O; Mur, E; Madrigal, I; Alvarez-Mora, M I; Gómez-Ansón, B; Pagonabarraga, J; Rodriguez-Revenga, L; Milà, M

    2017-01-01

    Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN) and the Autism-Spectrum Quotient (AQ) questionnaires. Fifty-nine premutation carriers were compared with 50 controls. The SPIN test showed statistically significant differences between female but not male carriers. The AQ questionnaire found statistically significant differences between premutation carriers and controls in the total AQ as well as in the social skills and attention switching subdomains. A gender effect was only observed for the social skills subdomain. Spearman's correlation analysis revealed a moderately positive correlation with the total AQ scores as well as the social skills and communication subdomains. Our results show that fragile X-associated tremor/ataxia syndrome (FXTAS) patients have higher AQ scores. Moreover, this is the first study to find statistically significant differences between FXTAS and no-FXTAS premutation carriers in the communication and the imagination subdomains, suggesting that FXTAS patients present a broader autistic phenotype than premutation carriers without FXTAS. Based on our results, a wide range of behavioral/psychiatric traits should be included within the broader phenotypic presentation of individuals with the FMR1 premutation. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Spatial relationship between Taenia solium tapeworm carriers and necropsy cyst burden in pigs.

    Science.gov (United States)

    Pray, Ian W; Ayvar, Viterbo; Gamboa, Ricardo; Muro, Claudio; Moyano, Luz M; Benavides, Victor; Flecker, Robert H; Garcia, Hector H; O'Neal, Seth E

    2017-04-01

    Taenia solium, a parasite that affects humans and pigs, is the leading cause of preventable epilepsy in the developing world. Geographic hotspots of pigs testing positive for serologic markers of T. solium exposure have been observed surrounding the locations of human tapeworm carriers. This clustered pattern of seropositivity in endemic areas formed the basis for geographically targeted control interventions, which have been effective at reducing transmission. In this study, we further explore the spatial relationship between human tapeworm carriers and infected pigs using necroscopic examination as a quantitative gold-standard diagnostic to detect viable T. solium cyst infection in pigs. We performed necroscopic examinations on pigs from 7 villages in northern Peru to determine the number of viable T. solium cysts in each pig. Participating humans in the study villages were tested for T. solium tapeworm infection (i.e., taeniasis) with an ELISA coproantigen assay, and the distances from each pig to its nearest human tapeworm carrier were calculated. We assessed the relationship between proximity to a tapeworm carrier and the prevalence of light, moderate, and heavy cyst burden in pigs. The prevalence of pig infection was greatest within 50 meters of a tapeworm carrier and decreased monotonically as distance increased. Pigs living less than 50 meters from a human tapeworm carrier were 4.6 times more likely to be infected with at least one cyst than more distant pigs. Heavier cyst burdens, however, were not more strongly associated with proximity to tapeworm carriers than light cyst burdens. Our study shows that human tapeworm carriers and pigs with viable T. solium cyst infection are geographically correlated in endemic areas. This finding supports control strategies that treat humans and pigs based on their proximity to other infected individuals. We did not, however, find sufficient evidence that heavier cyst burdens in pigs would serve as improved targets for

  11. Spatial relationship between Taenia solium tapeworm carriers and necropsy cyst burden in pigs.

    Directory of Open Access Journals (Sweden)

    Ian W Pray

    2017-04-01

    Full Text Available Taenia solium, a parasite that affects humans and pigs, is the leading cause of preventable epilepsy in the developing world. Geographic hotspots of pigs testing positive for serologic markers of T. solium exposure have been observed surrounding the locations of human tapeworm carriers. This clustered pattern of seropositivity in endemic areas formed the basis for geographically targeted control interventions, which have been effective at reducing transmission. In this study, we further explore the spatial relationship between human tapeworm carriers and infected pigs using necroscopic examination as a quantitative gold-standard diagnostic to detect viable T. solium cyst infection in pigs.We performed necroscopic examinations on pigs from 7 villages in northern Peru to determine the number of viable T. solium cysts in each pig. Participating humans in the study villages were tested for T. solium tapeworm infection (i.e., taeniasis with an ELISA coproantigen assay, and the distances from each pig to its nearest human tapeworm carrier were calculated. We assessed the relationship between proximity to a tapeworm carrier and the prevalence of light, moderate, and heavy cyst burden in pigs. The prevalence of pig infection was greatest within 50 meters of a tapeworm carrier and decreased monotonically as distance increased. Pigs living less than 50 meters from a human tapeworm carrier were 4.6 times more likely to be infected with at least one cyst than more distant pigs. Heavier cyst burdens, however, were not more strongly associated with proximity to tapeworm carriers than light cyst burdens.Our study shows that human tapeworm carriers and pigs with viable T. solium cyst infection are geographically correlated in endemic areas. This finding supports control strategies that treat humans and pigs based on their proximity to other infected individuals. We did not, however, find sufficient evidence that heavier cyst burdens in pigs would serve as

  12. Limitations of high dose carrier based formulations.

    Science.gov (United States)

    Yeung, Stewart; Traini, Daniela; Tweedie, Alan; Lewis, David; Church, Tanya; Young, Paul M

    2018-06-10

    This study was performed to investigate how increasing the active pharmaceutical ingredient (API) content within a formulation affects the dispersion of particles and the aerosol performance efficiency of a carrier based dry powder inhalable (DPI) formulation, using a custom dry powder inhaler (DPI) development rig. Five formulations with varying concentrations of API beclomethasone dipropionate (BDP) between 1% and 30% (w/w) were formulated as a multi-component carrier system containing coarse lactose and fine lactose with magnesium stearate. The morphology of the formulation and each component were investigated using scanning electron micrographs while the particle size was measured by laser diffraction. The aerosol performance, in terms of aerodynamic diameter, was assessed using the British pharmacopeia Apparatus E cascade impactor (Next generation impactor). Chemical analysis of the API was observed by high performance liquid chromatography (HPLC). Increasing the concentration of BDP in the blend resulted in increasing numbers and size of individual agglomerates and densely packed BDP multi-layers on the surface of the lactose carrier. BDP present within the multi-layer did not disperse as individual primary particles but as dense agglomerates, which led to a decrease in aerosol performance and increased percentage of BDP deposition within the Apparatus E induction port and pre-separator. As the BDP concentration in the blends increases, aerosol performance of the formulation decreases, in an inversely proportional manner. Concurrently, the percentage of API deposition in the induction port and pre-separator could also be linked to the amount of micronized particles (BDP and Micronized composite carrier) present in the formulation. The effect of such dose increase on the behaviour of aerosol dispersion was investigated to gain greater insight in the development and optimisation of higher dosed carrier-based formulations. Copyright © 2018 Elsevier B.V. All

  13. Carrier-interleaved orthogonal multi-electrode multi-carrier resistivity-measurement tool

    International Nuclear Information System (INIS)

    Cai, Yu; Sha, Shuang

    2016-01-01

    This paper proposes a new carrier-interleaved orthogonal multi-electrode multi-carrier resistivity-measurement tool used in a cylindrical borehole environment during oil-based mud drilling processes. The new tool is an orthogonal frequency division multiplexing access-based contactless multi-measurand detection tool. The tool can measure formation resistivity in different azimuthal angles and elevational depths. It can measure many more measurands simultaneously in a specified bandwidth than the legacy frequency division multiplexing multi-measurand tool without a channel-select filter while avoiding inter-carrier interference. The paper also shows that formation resistivity is not sensitive to frequency in certain frequency bands. The average resistivity collected from N subcarriers can increase the measurement of the signal-to-noise ratio (SNR) by N times given no amplitude clipping in the current-injection electrode. If the clipping limit is taken into account, with the phase rotation of each single carrier, the amplitude peak-to-average ratio can be reduced by 3 times, and the SNR can achieve a 9/ N times gain over the single-carrier system. The carrier-interleaving technique is also introduced to counter the carrier frequency offset (CFO) effect, where the CFO will cause inter-pad interference. A qualitative analysis and simulations demonstrate that block-interleaving performs better than tone-interleaving when coping with a large CFO. The theoretical analysis also suggests that increasing the subcarrier number can increase the measurement speed or enhance elevational resolution without sacrificing receiver performance. The complex orthogonal multi-pad multi-carrier resistivity logging tool, in which all subcarriers are complex signals, can provide a larger available subcarrier pool than other types of transceivers. (paper)

  14. Fragile X premutation carriers: A systematic review of neuroimaging findings.

    Science.gov (United States)

    Brown, Stephanie S G; Stanfield, Andrew C

    2015-05-15

    Expansion of the CGG repeat region of the FMR1 gene from less than 45 repeats to between 55 and 200 repeats is known as the fragile X premutation. Carriers of the fragile X premutation may develop a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS). Recent evidence suggests that premutation carriers experience other psychiatric difficulties throughout their lifespan. Medline, EMBASE and PsychINFO were searched for all appropriate English language studies published between January 1990 and December 2013. 419 potentially relevant articles were identified and screened. 19 articles were included in the analysis. We discuss key structural magnetic resonance imaging (MRI) findings such as the MCP sign and white matter atrophy. Additionally, we discuss how functional MRI results have progressed our knowledge of how FXTAS may manifest, including reduced brain activation during social and memory tasks in multiple regions. This systematic review may have been limited by the search for articles on just 3 scientific databases. Differing techniques and methods of analyses between research groups and primary research articles may have caused differences in results between studies. Current MRI studies into the fragile X premutation have been important in the diagnosis of FXTAS and identifying potential pathophysiological mechanisms. Associations with blood based measures have also demonstrated that neurodevelopmental and neurodegenerative aspects of the fragile X premutation could be functionally and pathologically separate. Larger longitudinal studies will be required to investigate these conclusions. Copyright © 2015 Elsevier B.V. All rights reserved.

  15. Premutation female carriers of fragile X syndrome: a pilot study on brain anatomy and metabolism.

    Science.gov (United States)

    Murphy, D G; Mentis, M J; Pietrini, P; Grady, C L; Moore, C J; Horwitz, B; Hinton, V; Dobkin, C S; Schapiro, M B; Rapoport, S I

    1999-10-01

    It was thought that premutation carriers of fragile X syndrome (FraX) have no neurobiological abnormalities, but there have been no quantitative studies of brain morphometry and metabolism. Thus the authors investigated brain structure and metabolism in premutation carriers of FraX. Eight normal IQ, healthy female permutation FraX carriers aged 39 +/- 9 years (mean +/- SD) and 32 age-sex-handedness-matched controls (39 +/- 10 years) were studied; in vivo brain morphometry was measured using volumetric magnetic resonances imaging, and regional cerebral metabolic rates for glucose were measured using positron emission tomography and (18F)-2-fluoro-2-deoxy-D-glucose. Compared with controls, FraX premutation carriers had a significant (1) decrease in volume of whole brain, and caudate and thalamic nuclei bilaterally; (2) increase in volume of hippocampus and peripheral CSF bilaterally, and third ventricle; (3) relative hypometabolism of right parietal, temporal, and occipital association areas; (4) bilateral relative hypermetabolism of hippocampus; (5) relative hypermetabolism of left cerebellum; and (6) difference in right-left asymmetry of the Wernicke and Broca language areas. Premutation carriers of FraX, as defined by analysis of peripheral lymphocytes, have abnormalities in brain anatomy and metabolism. The biological basis for this is unknown, but most likely it includes tissue heterogeneity for mutation status. The findings may be of relevance to people counseling families with FraX and to understanding other neuropsychiatric disorders which are associated with expansion of triplet repeats and genetic anticipation.

  16. Recovery of carrier-free gold-195

    International Nuclear Information System (INIS)

    Iofa, B.Z.; Ivanova, N.A.

    1995-01-01

    It is known that gold(III) is readily extracted from nitric acid solutions with ethers. The authors have studied extraction of trace amounts of gold(III) from nitric acid solutions with diethyl and diisopropyl ethers in the presence of significant excess of Pt(IV). Distribution coefficients of gold(III) were measured radiometrically using carrier-free gold-195 or spectrophotometrically in the presence of platinum(IV). Very high coefficients of gold separation from platinum may be achieved. Preliminary experiments have shown that zinc-65 was not extracted with ethers from nitric acid solutions. As an extraction system, the authors have chosen the system 10 M HNO 3 -diisopropyl ether. After model experiments, the authors have performed recovery of carrier-free gold-195 from a real platinum target irradiated with protons in a cyclotron

  17. Solid lipid nanoparticles: A drug carrier system

    Directory of Open Access Journals (Sweden)

    Rashmi R Kokardekar

    2011-01-01

    Full Text Available Solid lipid nanoparticles (SLN are a type of nanoparticles. They are submicron colloidal carriers which are composed of physiological lipids, dispersed in water or in aqueous surfactant solutions. SLN have wide range of advantages over other types of nanoparticles. These include availability of large-scale production methods and no signs of cytotoxicity, which are main hindrances in the application of other types of nanoparticles. Hot and cold homogenization techniques are mainly employed for its production. They are mainly evaluated on the basis of their drug release profile and particle internal structure. The products based on SLN are under development. They have a very wide range of applications in cosmetics and pharmaceuticals. They can be applied for any purpose, for which nanoparticles have a distinct advantage. Thus, SLN can be used extensively as an alternative to the existing drug carrier systems, providing more flexibility with respect to the area of applications and also aspects for commercialization.

  18. Energy carriers in Norway; Energibaerere i Norge

    Energy Technology Data Exchange (ETDEWEB)

    2008-01-15

    Within the Norwegian energy consumption, electricity is by far the most dominant energy carrier. In the last thirty years electricity has had an increased significance, while oil has been reduce. A trend that is likely to continue. Energy politics has among others these objectives: environment, reliability of supply and effective energy supply. These objectives are somewhat contradictory. In agreement with the environmental politic phasing out oil leads to a reduction in greenhouse gases. However this politic will have a local impact only effecting Norway, in a larger European connection it might lead to a larger net emission of CO{sub 2}. A political intervention in the energy market might also lead to a reduction in the energy markets effectiveness and flexibility. This report addresses this problem: If a total phase out of the stationary oil consumption is conducted, what energy carriers will this consumption convert to?

  19. Terahertz transport dynamics of graphene charge carriers

    DEFF Research Database (Denmark)

    Buron, Jonas Christian Due

    The electronic transport dynamics of graphene charge carriers at femtosecond (10-15 s) to picosecond (10-12 s) time scales are investigated using terahertz (1012 Hz) time-domain spectroscopy (THz-TDS). The technique uses sub-picosecond pulses of electromagnetic radiation to gauge the electrodynamic...... response of thin conducting films at up to multi-terahertz frequencies. In this thesis THz-TDS is applied towards two main goals; (1) investigation of the fundamental carrier transport dynamics in graphene at femtosecond to picosecond timescales and (2) application of terahertz time-domain spectroscopy...... to rapid and non-contact electrical characterization of large-area graphene, relevant for industrial integration. We show that THz-TDS is an accurate and reliable probe of graphene sheet conductance, and that the technique provides insight into fundamental aspects of the nanoscopic nature of conduction...

  20. Competitive position of energy carriers in trade

    Energy Technology Data Exchange (ETDEWEB)

    Suding, P.H.; Forsbach, H.H.

    Industrial consumers and public institutions, which are classed with the group of minor consumers, differ in their behaviour in energy consumption greatly from the structure of the whole group. Also the willingness to convert from fuel oil to natural gas in these trade groups is relatively high. Within the framework of 5 model enterprises, the profitability of energy carriers and economizing technology in trade is analysed. The model enterprises are a bakery, a meat purveyor, a restaurant, a laundry and a hospital. The basic data are compared with the data from 1985. The comparison shows that the competitive positions of energy carriers in business and public in the process heat sector here not changed dramatically. The competitiveness of natural gas has improved since 1985 through the changes in price. However, in the sectors in which it belongs to the group of economical alternatives (e.g. in the bakeries), electricity has not lost much ground. (BR)

  1. Some remarks on the carrier distillation method

    International Nuclear Information System (INIS)

    Avni, R.; Chaput, M.

    1961-01-01

    The method described by SCRIBNER and MULLIN makes possible the spectrographic analysis of the refractory oxides of uranium and plutonium. It uses a distillation of the elements which is more or less selective. The influence of the carrier is the subject of as many hypotheses as there are parameters involved in the process. The measurements of the arc temperature carried out on the leading edges of the vibration bands and of certain copper lines have made it possible to show the influence of the nature of the carrier and to establish a relationship between the values of the excitation potentials of the atoms and the temperatures produced. Further, this result makes it possible to explain certain contradictions between the principle of a fractional distillation in the arc which is incompatible with the refractory properties of certain elements and their spectrographic sensitivity. (author) [fr

  2. Experimental distribution of entanglement with separable carriers

    Science.gov (United States)

    Fedrizzi, Alessandro; Zuppardo, Margherita; Gillett, Geoff; Broome, Matthew; de Almeida, Marcelo; Paternostro, Mauro; White, Andrew; Paterek, Tomasz

    2014-03-01

    Quantum networks will allow us to overcome distance limitations in quantum communication, and to share quantum computing tasks between remote quantum processors. The key requirement for quantum networking is the distribution of entanglement between nodes. Surprisingly, entanglement can be generated across a network without directly being communicated between nodes. In contrast to information gain, which cannot exceed the communicated information, the entanglement gain is bounded by the communicated quantum discord, a more general measure of quantum correlation that includes but is not limited to entanglement. Here we report an experiment in which two communicating parties who share three initially separable photonic qubits are entangled by exchange of a carrier photon that is not entangled with either party at all times. We show that distributing entanglement with separable carriers is resilient to noise and in some cases becomes the only way of distributing entanglement over noisy environments.

  3. Formic Acid as a Hydrogen Energy Carrier

    KAUST Repository

    Eppinger, Jö rg; Huang, Kuo-Wei

    2016-01-01

    The high volumetric capacity (S3 g H-2/L) and its low toxicity and flammability under ambient conditions make formic acid a promising hydrogen energy carrier. Particularly, in the past decade, significant advancements have been achieved in catalyst development for selective hydrogen generation from formic acid. This Perspective highlights the advantages of this approach with discussions focused on potential applications in the transportation sector together with analysis of technical requirements, limitations, and costs.

  4. Formic Acid as a Hydrogen Energy Carrier

    KAUST Repository

    Eppinger, Jorg

    2016-12-15

    The high volumetric capacity (S3 g H-2/L) and its low toxicity and flammability under ambient conditions make formic acid a promising hydrogen energy carrier. Particularly, in the past decade, significant advancements have been achieved in catalyst development for selective hydrogen generation from formic acid. This Perspective highlights the advantages of this approach with discussions focused on potential applications in the transportation sector together with analysis of technical requirements, limitations, and costs.

  5. PLUTONIUM PURIFICATION PROCESS EMPLOYING THORIUM PYROPHOSPHATE CARRIER

    Science.gov (United States)

    King, E.L.

    1959-04-28

    The separation and purification of plutonium from the radioactive elements of lower atomic weight is described. The process of this invention comprises forming a 0.5 to 2 M aqueous acidffc solution containing plutonium fons in the tetravalent state and elements with which it is normally contaminated in neutron irradiated uranium, treating the solution with a double thorium compound and a soluble pyrophosphate compound (Na/sub 4/P/sub 2/O/sub 7/) whereby a carrier precipitate of thorium A method is presented of reducing neptunium and - trite is advantageous since it destroys any hydrazine f so that they can be removed from solutions in which they are contained is described. In the carrier precipitation process for the separation of plutonium from uranium and fission products including zirconium and columbium, the precipitated blsmuth phosphate carries some zirconium, columbium, and uranium impurities. According to the invention such impurities can be complexed and removed by dissolving the contaminated carrier precipitate in 10M nitric acid, followed by addition of fluosilicic acid to about 1M, diluting the solution to about 1M in nitric acid, and then adding phosphoric acid to re-precipitate bismuth phosphate carrying plutonium.

  6. Organized polysaccharide fibers as stable drug carriers

    Science.gov (United States)

    Janaswamy, Srinivas; Gill, Kristin L.; Campanella, Osvaldo H.; Pinal, Rodolfo

    2013-01-01

    Many challenges arise during the development of new drug carrier systems, and paramount among them are safety, solubility and controlled release requirements. Although synthetic polymers are effective, the possibility of side effects imposes restrictions on their acceptable use and dose limits. Thus, a new drug carrier system that is safe to handle and free from side effects is very much in need and food grade polysaccharides stand tall as worthy alternatives. Herein, we demonstrate for the first time the feasibility of sodium iota-carrageenan fibers and their distinctive water pockets to embed and release a wide variety of drug molecules. Structural analysis has revealed the existence of crystalline network in the fibers even after encapsulating the drug molecules, and iota-carrageenan maintains its characteristic and reproducible double helical structure suggesting that the composites thus produced are reminiscent of cocrystals. The melting properties of iota-carrageenan:drug complexes are distinctly different from those of either drug or iota-carrageenan fiber. The encapsulated drugs are released in a sustained manner from the fiber matrix. Overall, our research provides an elegant opportunity for developing effective drug carriers with stable network toward enhancing and/or controlling bioavailability and extending shelf-life of drug molecules using GRAS excipients, food polysaccharides, that are inexpensive and non–toxic. PMID:23544530

  7. Acoustic manipulation: Bessel beams and active carriers

    Science.gov (United States)

    Rajabi, Majid; Mojahed, Alireza

    2017-10-01

    In this paper, we address the interaction of zero-order acoustic Bessel beams as an acoustic manipulation tool, with an active spherical shell, as a carrier in drug, agent, or material delivery systems, in order to investigate the controllability of exerted acoustic radiation force as the driver. The active body is comprised of a spherical elastic shell stimulated in its monopole mode of vibrations with the same frequency as the incident wave field via an internally bonded and spatially uniformly excited piezoelectric actuator. The main aim of this work is to examine the performance of a nondiffracting and self-reconstructing zero-order Bessel beam to obtain the full manipulability condition of active carriers in comparison with the case of a plane wave field. The results unveil some unique potentials of the Bessel beams in the company of active carriers, with emphasis on the consumed power of the actuation system. This paper will widen the path toward the single-beam robust acoustic manipulation techniques and may lead to the prospect of combined tweezers and fields, with applications in delivery systems, microswimmers, and trapper designs.

  8. Junction depth measurement using carrier illumination

    International Nuclear Information System (INIS)

    Borden, Peter

    2001-01-01

    Carrier Illumination [trade mark] (CI) is a new method recently developed to meet the need for a non-destructive, high throughput junction depth measurement on patterned wafers. A laser beam creates a quasi-static excess carrier profile in the semiconductor underlying the activated junction. The excess carrier profile is fairly constant below the junction, and drops rapidly in the junction, creating a steep index of refraction gradient at the junction edge. Interference with light reflected from this index gradient provides a signal that is analyzed to determine the junction depth. The paper summarizes evaluation of performance in full NMOS and PMOS process flows, on both bare and patterned wafers. The aims have been to validate (1) performance in the presence of underlying layers typically found at the source/drain (S/D) process steps and (2) measurement on patterned wafers. Correlation of CI measurements to SIMS and transistor drive current are shown. The data were obtained from NMOS structures using As S/D and LDD implants. Correlations to SRP, SIMS and sheet resistance are shown for PMOS structures using B 11 LDD implants. Gage capability measurements are also presented

  9. 14 CFR 158.69 - Recordkeeping and auditing: Collecting carriers.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 3 2010-01-01 2010-01-01 false Recordkeeping and auditing: Collecting carriers. 158.69 Section 158.69 Aeronautics and Space FEDERAL AVIATION ADMINISTRATION, DEPARTMENT OF....69 Recordkeeping and auditing: Collecting carriers. (a) Collecting carriers shall establish and...

  10. 49 CFR 1150.22 - Exemptions and common carrier status.

    Science.gov (United States)

    2010-10-01

    ... the line itself, it will be considered a common carrier. However, when a State acquires a rail line... 49 Transportation 8 2010-10-01 2010-10-01 false Exemptions and common carrier status. 1150.22... common carrier status. The acquisition by a State of a fully abandoned line is not subject to the...

  11. Terahertz carrier dynamics in graphene and graphene nanostructures

    DEFF Research Database (Denmark)

    Jensen, Søren A.; Turchinovich, Dmitry; Tielrooij, Klaas Jan

    2014-01-01

    Photoexcited charge carriers in 2D graphene and in 1D graphene nanostructures were studied with optical pump-THz probe spectroscopy. We find efficient hot-carrier multiplication in 2D graphene, and predominantly free carrier early time response in 1D nanostructures. © 2014 OSA....

  12. 14 CFR 271.3 - Carrier subsidy need.

    Science.gov (United States)

    2010-01-01

    ... Aeronautics and Space OFFICE OF THE SECRETARY, DEPARTMENT OF TRANSPORTATION (AVIATION PROCEEDINGS) ECONOMIC REGULATIONS GUIDELINES FOR SUBSIDIZING AIR CARRIERS PROVIDING ESSENTIAL AIR TRANSPORTATION § 271.3 Carrier subsidy need. In establishing the subsidy for an air carrier providing essential air service at an...

  13. 49 CFR 373.101 - Motor carrier bills of lading.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 5 2010-10-01 2010-10-01 false Motor carrier bills of lading. 373.101 Section 373.101 Transportation Other Regulations Relating to Transportation (Continued) FEDERAL MOTOR CARRIER SAFETY ADMINISTRATION, DEPARTMENT OF TRANSPORTATION FEDERAL MOTOR CARRIER SAFETY REGULATIONS RECEIPTS AND...

  14. 49 CFR 397.67 - Motor carrier responsibility for routing.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 5 2010-10-01 2010-10-01 false Motor carrier responsibility for routing. 397.67 Section 397.67 Transportation Other Regulations Relating to Transportation (Continued) FEDERAL MOTOR CARRIER SAFETY ADMINISTRATION, DEPARTMENT OF TRANSPORTATION FEDERAL MOTOR CARRIER SAFETY REGULATIONS...

  15. Literature review of the passenger airline business models : Full service carrier, low-cost carrier and charter airlines

    NARCIS (Netherlands)

    Carmona Benitez, R.B.; Lodewijks, G.

    2008-01-01

    The deregulation and liberalization of the air transportation industry have developed three main passenger business models: full service carriers, low-cost carriers, and charter airlines. Deregulation removed regulated fares and routes increasing competition and yields. Airlines business models main

  16. Joint Iterative Carrier Synchronization and Signal Detection for Dual Carrier 448 Gb/s PDM 16-QAM

    DEFF Research Database (Denmark)

    Zibar, Darko; Carvalho, Luis; Estaran Tolosa, Jose Manuel

    2013-01-01

    Soft decision driven joint carrier synchronization and signal detection, employing expectation maximization, is experimentally demonstrated. Employing soft decisions offers an improvement of 0.5 dB compared to hard decision digital PLL based carrier synchronization and demodulation.......Soft decision driven joint carrier synchronization and signal detection, employing expectation maximization, is experimentally demonstrated. Employing soft decisions offers an improvement of 0.5 dB compared to hard decision digital PLL based carrier synchronization and demodulation....

  17. Carrier transport in amorphous silicon utilizing picosecond photoconductivity

    Science.gov (United States)

    Johnson, A. M.

    1981-08-01

    The development of a high-speed electronic measurement capability permitted the direct observation of the transient photoresponse of amorphous silicon (a-Si) with a time resolution of approximately 10ps. This technique was used to measure the initial mobility of photogenerated (2.1eV) free carriers in three types of a-Si having widely different densities of structural defects (i.e., as prepared by: (1) RF glow discharge (a-Si:H); (2) chemical vapor deposition; and (3) evaporation in ultra-high vacuum). In all three types of a-Si, the same initial mobility of approximately 1 cu cm/Vs at room temperature was found. This result tends to confirm the often-made suggestion that the free carrier mobility is determined by the influence of shallow states associated with the disorder in the random atomic network, and is an intrinsic property of a-Si which is unaffected by the method of preparation. The rate of decay of the photocurrent correlates with the density of structural defects and varies from 4ps to 200ps for the three types of a-Si investigated. The initial mobility of a-Si:H was found to be thermally activated. The possible application of extended state transport controlled by multiple trapping and small polaron formation is discussed.

  18. Natural Ores as Oxygen Carriers in Chemical Looping Combustion

    Energy Technology Data Exchange (ETDEWEB)

    Tian, Hanjing; Siriwardane, Ranjani; Simonyi, Thomas; Poston, James

    2013-08-01

    Chemical looping combustion (CLC) is a combustion technology that utilizes oxygen from oxygen carriers (OC), such as metal oxides, instead of air to combust fuels. The use of natural minerals as oxygen carriers has advantages, such as lower cost and availability. Eight materials, based on copper or iron oxides, were selected for screening tests of CLC processes using coal and methane as fuels. Thermogravimetric experiments and bench-scale fixed-bed reactor tests were conducted to investigate the oxygen transfer capacity, reaction kinetics, and stability during cyclic reduction/oxidation reaction. Most natural minerals showed lower combustion capacity than pure CuO/Fe{sub 2}O{sub 3} due to low-concentrations of active oxide species in minerals. In coal CLC, chryscolla (Cu-based), magnetite, and limonite (Fe-based) demonstrated better reaction performances than other materials. The addition of steam improved the coal CLC performance when using natural ores because of the steam gasification of coal and the subsequent reaction of gaseous fuels with active oxide species in the natural ores. In methane CLC, chryscolla, hematite, and limonite demonstrated excellent reactivity and stability in 50-cycle thermogravimetric analysis tests. Fe{sub 2}O{sub 3}-based ores possess greater oxygen utilization but require an activation period before achieving full performance in methane CLC. Particle agglomeration issues associated with the application of natural ores in CLC processes were also studied by scanning electron microscopy (SEM).

  19. Neurological and endocrine phenotypes of fragile X carrier women.

    Science.gov (United States)

    Hall, D; Todorova-Koteva, K; Pandya, S; Bernard, B; Ouyang, B; Walsh, M; Pounardjian, T; Deburghraeve, C; Zhou, L; Losh, M; Leehey, M; Berry-Kravis, E

    2016-01-01

    Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and evaluated by a neurologist, neuropsychologist, and endocrinologist. Blood and skin biopsies were collected for molecular measures. Scales for movement disorders, neuropathy, cognitive function, psychiatric symptoms, sleep, and quality of life were completed. The average age of the women was 51 years (n = 46) and average CGG repeat size was 91 ± 24.9 in the FMR1 PMC women. Seventy percent of the PMC women had an abnormal neurological examination. PMC women had significantly higher scores on the Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) rating scale, more neuropathy, and difficulty with tandem gait compared to controls. Central sensitivity syndromes, a neuroticism profile on the NEO Personality Profile, and sleep disorders were also prevalent. Discrepancies between subject report and examination findings were also seen. This pilot study suggests that women with the FMR1 premutation may have a phenotype that overlaps with that seen in FXTAS. Additional research with larger sample sizes is warranted to better delineate the clinical features. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. 78 FR 78257 - Verification of Statements of Account Submitted by Cable Operators and Satellite Carriers

    Science.gov (United States)

    2013-12-26

    ... royalty fees with the Office in order to use the statutory licenses that allow for the retransmission of... royalty fees that cable operators and satellite carriers file with the Office. See 17 U.S.C. 111(d)(6... new process to allow copyright owners to audit the SOAs and associated royalty payments. The Office...

  1. A firm size and safety performance profile of the U.S. motor carrier industry.

    Science.gov (United States)

    2014-12-01

    The purpose of this study was the development of a driver-focused truck crash prediction model with a particular focus on the size of : the carrier that the driver is associated with at the time of a state reportable crash. While previous studies hav...

  2. 14 CFR 272.10 - Conditions applicable to carriers serving a subsidized market.

    Science.gov (United States)

    2010-01-01

    ... TRANSPORTATION (AVIATION PROCEEDINGS) ECONOMIC REGULATIONS ESSENTIAL AIR SERVICE TO THE FREELY ASSOCIATED STATES... precondition to the payment of compensation necessary to maintain essential air service, whether or not the affected carrier is itself receiving subsidy compensation in the market, if it finds that: (1) Essential...

  3. Genaesthics : Breast Surgery in BRCA1/2 Gene Mutation Carriers

    NARCIS (Netherlands)

    V.M.T. van Verschuer (Victorien)

    2017-01-01

    markdownabstractThe present thesis focuses on breast surgery in BRCA1/2 gene mutation carriers. The topics that are studied vary broadly, representing the multiple disciplines that are involved in the diagnostic work-up and treatment of BRCA1/2-associated breast cancer. The first part contains

  4. Radon generator and the method of radium carrier fabrication

    International Nuclear Information System (INIS)

    Czerski, B.

    1992-01-01

    The radon generator construction and the method of radium carrier fabrication has been the subject of the patent. The generator is a cylindrical vessel with gas valves system and two filters inside. Between them the radium carrier has been located. As a carrier polyurethane foam has been used. The carrier is obtained in a generator vessel from polyester resin in the presence of activated mixture of engine oil, zinc-organic catalyst and toluene. To the obtained mixture the radium chloride in the solution of hydrochloric acid is added. The carrier foam is produced by mechanical stirring of substrates inside the vessel and drying in 50 C in a heater. 1 fig

  5. Raman imaging of carrier distribution in the channel of an ionic liquid-gated transistor fabricated with regioregular poly(3-hexylthiophene)

    Science.gov (United States)

    Wada, Y.; Enokida, I.; Yamamoto, J.; Furukawa, Y.

    2018-05-01

    Raman images of carriers (positive polarons) at the channel of an ionic liquid-gated transistor (ILGT) fabricated with regioregular poly(3-hexylthiophene) (P3HT) have been measured with excitation at 785 nm. The observed spectra indicate that carriers generated are positive polarons. The intensities of the 1415 cm-1 band attributed to polarons in the P3HT channel were plotted as Raman images; they showed the carrier density distribution. When the source-drain voltage VD is lower than the source-gate voltage VG (linear region), the carrier density was uniform. When VD is nearly equal to VG (saturation region), a negative carrier density gradient from the source electrode towards the drain electrode was observed. This carrier density distribution is associated with the observed current-voltage characteristics, which is not consistent with the "pinch-off" theory of inorganic semiconductor transistors.

  6. Nanostructure lipid carriers: A modish contrivance to overcome the ultraviolet effects

    Directory of Open Access Journals (Sweden)

    Priyanka Jain

    2017-06-01

    Full Text Available Protection of the skin from the ultraviolet radiation is the prime concern of society. An increase in the adverse effects by ultraviolet (UV radiation on the skin promoted cosmetic formulators to work in the area of UV blockers and their effective means of delivery. Nanostructured lipid carriers (NLCs is a modern and successful lipid carrier system in the cosmetic world associated with various advantages i.e., stability, effective drug loading capacity etc. NLCs also permits to load 70% of UV blockers which are sufficient to obtain recommended Sun Protection Factor (SPF which makes them suitable delivery systems for topical application of the UV blockers.

  7. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Ramus, Susan J; Kartsonaki, Christiana; Gayther, Simon A

    2011-01-01

    Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility....

  8. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Ramus, Susan J; Kartsonaki, Christiana; Gayther, Simon A

    2011-01-01

    Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-w...

  9. Carrier dynamics in graphene. Ultrafast many-particle phenomena

    Energy Technology Data Exchange (ETDEWEB)

    Malic, E.; Brem, S.; Jago, R. [Department of Physics, Chalmers University of Technology, Goeteborg (Sweden); Winzer, T.; Wendler, F.; Knorr, A. [Institut fuer Theoretische Physik, Technische Universitaet Berlin (Germany); Mittendorff, M.; Koenig-Otto, J.C.; Schneider, H.; Helm, M.; Winnerl, S. [Helmholtz-Zentrum Dresden-Rossendorf, Dresden (Germany); Ploetzing, T.; Neumaier, D. [Advanced Microelectronic Center Aachen, AMO GmbH, Aachen (Germany)

    2017-11-15

    Graphene is an ideal material to study fundamental Coulomb- and phonon-induced carrier scattering processes. Its remarkable gapless and linear band structure opens up new carrier relaxation channels. In particular, Auger scattering bridging the valence and the conduction band changes the number of charge carriers and gives rise to a significant carrier multiplication - an ultrafast many-particle phenomenon that is promising for the design of highly efficient photodetectors. Furthermore, the vanishing density of states at the Dirac point combined with ultrafast phonon-induced intraband scattering results in an accumulation of carriers and a population inversion suggesting the design of graphene-based terahertz lasers. Here, we review our work on the ultrafast carrier dynamics in graphene and Landau-quantized graphene is presented providing a microscopic view on the appearance of carrier multiplication and population inversion. (copyright 2017 by WILEY-VCH Verlag GmbH and Co. KGaA, Weinheim)

  10. Ultrafast carrier dynamics in tetrahedral amorphous carbon: carrier trapping versus electron-hole recombination

    International Nuclear Information System (INIS)

    Carpene, E; Mancini, E; Dallera, C; Schwen, D; Ronning, C; Silvestri, S De

    2007-01-01

    We report the investigation of the ultrafast carrier dynamics in thin tetrahedral amorphous carbon films by means of femtosecond time-resolved reflectivity. We estimated the electron-phonon relaxation time of a few hundred femtoseconds and we observed that under low optical excitation photo-generated carriers decay according to two distinct mechanisms attributed to trapping by defect states and direct electron-hole recombination. With high excitation, when photo-carrier and trap densities are comparable, a unique temporal evolution develops, as the time dependence of the trapping process becomes degenerate with the electron-hole recombination. This experimental evidence highlights the role of defects in the ultrafast electronic dynamics and is not specific to this particular form of carbon, but has general validity for amorphous and disordered semiconductors

  11. Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK)

    NARCIS (Netherlands)

    Pijpe, Anouk; Andrieu, Nadine; Easton, Douglas F.; Kesminiene, Ausrele; Cardis, Elisabeth; Noguès, Catherine; Gauthier-Villars, Marion; Lasset, Christine; Fricker, Jean-Pierre; Peock, Susan; Frost, Debra; Evans, D. Gareth; Eeles, Rosalind A.; Paterson, Joan; Manders, Peggy; van Asperen, Christi J.; Ausems, Margreet G. E. M.; Meijers-Heijboer, Hanne; Thierry-Chef, Isabelle; Hauptmann, Michael; Goldgar, David; Rookus, Matti A.; van Leeuwen, Flora E.; Fourme, Emmanuelle; Lidereau, Rosette; Stevens, Denise; Stoppa-Lyonnet, Dominique; Chompret, Agnès; Berthet, Pascaline; Luporsi, Elisabeth; Bonadona, Valérie; Gauducheau, René; de Sienne, Catherine; Lortholary, Alain; Frénay, Marc; Faivre, Laurence; Sobol, Hagay; Huiart, Laetitia; Longy, Michel; Nguyen, Tan Dat; Gladieff, Laurence; Guimbaud, Rosine; Gesta, Paul; Vennin, Philippe; Adenis, Claude; Chevrier, Annie; Rossi, Annick; Perrin, Jean; Bignon, Yves-Jean; Limacher, Jean-Marc; Dugast, Catherine; Courlancy, Polyclinique; Demange, Liliane; Zattara-Cannoni, Hélène; Dreyfus, Hélène; Noruzinia, Mehrdad; Venat-Bouvet, Laurence; Cook, Margaret; Oliver, Clare; Gregory, Helen; Cole, Trevor; Burgess, Lucy; Rogers, Mark; Hughes, Lisa; Brewer, Carole; Davidson, Rosemarie; Bradshaw, Nicola; Izatt, Louise; Pichert, Gabriella; Langman, Caroline; Chu, Carol; Miller, Julie; Evans, Gareth; Lalloo, Fiona; Shenton, Andrew; Side, Lucy; Bancroft, Elizabeth; Page, Elizabeth; Castro, Elena; Houlston, Richard; Rahman, Nazneen; Shanley, Susan; Cook, Jackie; Baxter, Lauren; Hodgson, Shirley; Goff, Sheila; Eccles, Diana; Verhoef, Senno; Brohet, Richard; Hogervorst, Frans; van 't Veer, Laura; van Leeuwen, Flora; Rookus, Matti; Collée, Margriet; van den Ouweland, Ans; Kriege, Mieke; Schutte, Mieke; Hooning, Maartje; Seynaeve, Caroline; Tollenaar, Rob; van Asperen, Christi; Wijnen, Juul; Devilee, Peter; Ligtenberg, Marjolijn; Ausems, Margreet; van der Luijt, Rob; Aalfs, Cora; van Os, Theo; Gille, Hans; Gomez-Garcia, Encarna; Blok, Rien; Oosterwijk, Jan; van der Hout, Annemiek; Vasen, Hans; van Leeuwen, Inge

    2012-01-01

    To estimate the risk of breast cancer associated with diagnostic radiation in carriers of BRCA1/2 mutations. Retrospective cohort study (GENE-RAD-RISK). Three nationwide studies (GENEPSO, EMBRACE, HEBON) in France, United Kingdom, and the Netherlands, 1993 female carriers of BRCA1/2 mutations

  12. Prevalence of precore-defective mutant of hepatitis B virus in HBV carriers.

    Science.gov (United States)

    Niitsuma, H; Ishii, M; Saito, Y; Miura, M; Kobayashi, K; Ohori, H; Toyota, T

    1995-08-01

    Two hundred and seventy-three serum specimens from hepatitis B virus (HBV) carriers were examined for the presence of a characteristic one point mutation at nucleotide (nt) 1896 from the EcoRI site of the HBV genome in the precore region (the preC mutant) using restriction fragment length polymorphism (RFLP) analysis. This assay approach could detect preC mutants or wild-type sequences when either form constituted more than 10% of the total sample. Overall, 65.5% (76/116) of HBeAg-positive carriers had only the preC wild-type. All HBeAg-positive asymptomatic carriers (n = 14) had only the preC wild-type. In patients with chronic hepatitis B and in anti-HBe-positive asymptomatic carriers, increased prevalence of the preC mutant was associated with the development of anti-HBe antibodies and normalization of the serum alanine aminotransferase concentration. Furthermore, 27 (29.0%) of 93 HBeAg-negative carriers had unexpectedly preC wild-type sequences only. Direct sequencing of the HBV precore region of HBV specimens from 24 patients revealed no mutation at nt 1896, supporting the specificity of the RFLP analysis. These results suggest that RFLP analysis was accurate for the detection of the preC mutation and that the absence of serum HBeAg cannot be explained solely by the dominance of the preC mutant.

  13. Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation.

    Science.gov (United States)

    Wang, Jun Yi; Hessl, David; Hagerman, Randi J; Simon, Tony J; Tassone, Flora; Ferrer, Emilio; Rivera, Susan M

    2017-07-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain. Compared to the controls, premutation carriers without FXTAS showed significantly accelerated volume decrease in the cerebellum and whole brain, flatter inverted U-shaped trajectory of the brainstem, and larger ventricles. Compared to both older controls and premutation carriers without FXTAS, carriers with FXTAS exhibited significant volume decrease in the cerebellum and whole brain and accelerated volume decrease in the brainstem. We therefore conclude that cerebellar and brainstem volumes were likely affected during both development and progression of neurodegeneration in premutation carriers, suggesting that interventions may need to start early in adulthood to be most effective. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Chemical-Looping Combustion and Gasification of Coals and Oxygen Carrier Development: A Brief Review

    Directory of Open Access Journals (Sweden)

    Ping Wang

    2015-09-01

    Full Text Available Chemical-looping technology is one of the promising CO2 capture technologies. It generates a CO2 enriched flue gas, which will greatly benefit CO2 capture, utilization or sequestration. Both chemical-looping combustion (CLC and chemical-looping gasification (CLG have the potential to be used to generate power, chemicals, and liquid fuels. Chemical-looping is an oxygen transporting process using oxygen carriers. Recently, attention has focused on solid fuels such as coal. Coal chemical-looping reactions are more complicated than gaseous fuels due to coal properties (like mineral matter and the complex reaction pathways involving solid fuels. The mineral matter/ash and sulfur in coal may affect the activity of oxygen carriers. Oxygen carriers are the key issue in chemical-looping processes. Thermogravimetric analysis (TGA has been widely used for the development of oxygen carriers (e.g., oxide reactivity. Two proposed processes for the CLC of solid fuels are in-situ Gasification Chemical-Looping Combustion (iG-CLC and Chemical-Looping with Oxygen Uncoupling (CLOU. The objectives of this review are to discuss various chemical-looping processes with coal, summarize TGA applications in oxygen carrier development, and outline the major challenges associated with coal chemical-looping in iG-CLC and CLOU.

  15. 78 FR 5243 - Motor Carrier Safety Advisory Committee (MCSAC): Public Meeting of Subcommittees

    Science.gov (United States)

    2013-01-24

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2006-26367] Motor Carrier Safety Advisory Committee (MCSAC): Public Meeting of Subcommittees AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of meeting of Motor Carrier Safety...

  16. 76 FR 5424 - Motor Carrier Safety Advisory Committee; Request for Nominations

    Science.gov (United States)

    2011-01-31

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2006-26367] Motor Carrier Safety Advisory Committee; Request for Nominations AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Request for Nominations to the Motor Carrier Safety Advisory...

  17. Dedicated Carrier Deployment in Heterogeneous Networks with Inter-site Carrier Aggregation

    DEFF Research Database (Denmark)

    Wang, Hua; Rosa, Claudio; Pedersen, Klaus I.

    2013-01-01

    the macrocell or the picocell using simple cell range expansion (RE). Extensive system-level simulations have been conducted to investigate the performance gains that can be achieved with inter-site CA under different traffic models and user distributions. Results show that using inter-site CA between......) or picos with dedicated carrier deployment. Collaborative inter-site carrier aggregation (CA) is proposed in scenarios with macro+RRH deployment to make an efficient use of the fragmented spectrum from multiple cells. While in scenarios with macro+pico deployment, UEs can only connect to either...

  18. Energy carriers within Europe: electricity and SNG

    Energy Technology Data Exchange (ETDEWEB)

    Lucas, N J.D.

    1977-03-01

    The general aim of this paper is to make a case for substitute natural gas as an energy carrier with prospects for growth that are at least as good as those of electricity and a life expectancy as long as one can reasonably plan for. The bulk of the paper analyzes the determinants of commercial competition between SNG and electricity. Space heat is treated in detail because this is generally seen as the area in which rapid expansion of electricity sales is possible. The provision of process heat to industry is dealt with superficially. The principal conclusion is that, for space heating and some industrial process heating and over a wide range of future costs for fossil and nuclear fuels, SNG from the marginal source of bulk fuel will be of lower cost than electricity from an integrated system of nuclear generating stations and fossil-fired stations using the same marginal source of fossil fuel. This conclusion may be difficult to accept because it conflicts with intuition. In Europe now there is a good case for installing more nuclear plants if what is wanted is base-load power. There are also mines producing coal at higher cost than imported oil. The short-term economic pressure, therefore, is to install nuclear plants and retreat from coal. Moreover, natural gas from the North Sea and even LNG from distant sources is cheaper than SNG from indigenous coal is likely to be. If one believes that indigenous oil and gas will be available in large quantities, or if one believes it will be possible to import oil without difficulty or political risk, then it is right to ignore SNG as an energy carrier; but the fashionable perception of the future is that indigenous production and/or imports will be restricted by physical shortage or political constraint so that, at the margin, heat will be supplied from nuclear fuel. In these circumstances SNG appears a better carrier of energy for heat than electricity. (MCW)

  19. Carrier concentration induced ferromagnetism in semiconductors

    International Nuclear Information System (INIS)

    Story, T.

    2007-01-01

    In semiconductor spintronics the key materials issue concerns ferromagnetic semiconductors that would, in particular, permit an integration (in a single multilayer heterostructure) of standard electronic functions of semiconductors with magnetic memory function. Although classical semiconductor materials, such as Si or GaAs, are nonmagnetic, upon substitutional incorporation of magnetic ions (typically of a few atomic percents of Mn 2+ ions) and very heavy doping with conducting carriers (at the level of 10 20 - 10 21 cm -3 ) a ferromagnetic transition can be induced in such diluted magnetic semiconductors (also known as semimagnetic semiconductors). In the lecture the spectacular experimental observations of carrier concentration induced ferromagnetism will be discussed for three model semiconductor crystals. p - Ga 1-x Mn x As currently the most actively studied and most perspective ferromagnetic semiconductor of III-V group, in which ferromagnetism appears due to Mn ions providing both local magnetic moments and acting as acceptor centers. p - Sn 1-x Mn x Te and p - Ge 1-x Mn x Te classical diluted magnetic semiconductors of IV-VI group, in which paramagnet-ferromagnet and ferromagnet-spin glass transitions are found for very high hole concentration. n - Eu 1-x Gd x Te mixed magnetic crystals, in which the substitution of Gd 3+ ions for Eu 2+ ions creates very high electron concentration and transforms antiferromagnetic EuTe (insulating compound) into ferromagnetic n-type semiconductor alloy. For each of these materials systems the key physical features will be discussed concerning: local magnetic moments formation, magnetic phase diagram as a function of magnetic ions and carrier concentration as well as Curie temperature and magnetic anisotropy engineering. Various theoretical models proposed to explain the effect of carrier concentration induced ferromagnetism in semiconductors will be briefly discussed involving mean field approaches based on Zener and RKKY

  20. Carrier mobilities in microcrystalline silicon films

    International Nuclear Information System (INIS)

    Bronger, T.; Carius, R.

    2007-01-01

    For a better understanding of electronic transport mechanisms in thin-film silicon solar cell quality films, we have investigated the Hall mobility for electrons in microcrystalline/amorphous silicon over a range of crystallinities and doping concentrations. We find that Hall mobility increases with increasing doping concentration in accordance with earlier measurements. With increasing amorphous fraction, the measured mobility decreases suggesting a negative influence of the additional disorder. The results suggest a differential mobility model in which mobility depends on the energy level of the carriers that contribute to the electrical current

  1. Motor pathway excitability in ATP13A2 mutation carriers

    DEFF Research Database (Denmark)

    Zittel, S; Kroeger, J; van der Vegt, J P M

    2012-01-01

    OBJECTIVE: To describe excitability of motor pathways in Kufor-Rakeb syndrome (PARK9), an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration caused by a mutation in the ATP13A2 gene, using transcranial magnetic stimulation (TMS). METHODS: Five members of a Chilean family...... with an ATP13A2 mutation (one affected mutation carrier (MC) with a compound heterozygous mutation, 4 asymptomatic MC with a single heterozygous mutation) and 11 healthy subjects without mutations were studied. We measured motor evoked potentials (MEP), the contralateral silent period (cSP), short interval....... RESULTS: CSP duration was increased in the symptomatic ATP13A2 MC. The iSP measurements revealed increased interhemispheric inhibition in both the compound heterozygous and the heterozygous MC. CONCLUSION: A compound heterozygous mutation in the ATP13A2 gene is associated with increased intracortical...

  2. Charge carrier density in Li-intercalated graphene

    KAUST Repository

    Kaloni, Thaneshwor P.

    2012-05-01

    The electronic structures of bulk C 6Li, Li-intercalated free-standing bilayer graphene, and Li-intercalated bilayer and trilayer graphene on SiC(0 0 0 1) are studied using density functional theory. Our estimate of Young\\'s modulus suggests that Li-intercalation increases the intrinsic stiffness. For decreasing Li-C interaction, the Dirac point shifts to the Fermi level and the associated band splitting vanishes. For Li-intercalated bilayer graphene on SiC(0 0 0 1) the splitting at the Dirac point is tiny. It is also very small at the two Dirac points of Li-intercalated trilayer graphene on SiC(0 0 0 1). For all the systems under study, a large enhancement of the charge carrier density is achieved by Li intercalation. © 2012 Elsevier B.V. All rights reserved.

  3. Specific patterns of whole-brain structural covariance of the anterior and posterior hippocampus in young APOE ε4 carriers.

    Science.gov (United States)

    Stening, Eva; Persson, Jonas; Eriksson, Elias; Wahlund, Lars-Olof; Zetterberg, Henrik; Söderlund, Hedvig

    2017-05-30

    Apolipoprotein E (APOE) ε4 has been associated with smaller hippocampal volumes in healthy aging, while findings in young adults are inconclusive. Previous studies have mostly used univariate methods, and without considering potential anterior/posterior differences. Here, we used a multivariate method, partial least squares, and assessed whole-brain structural covariance of the anterior (aHC) and posterior (pHC) hippocampus in young adults (n=97) as a function of APOE ε4 status and sex. Two significant patterns emerged: (1) specific structural covariance of the aHC with frontal regions, temporal and occipital areas in APOE ε4 women, whereas the volume of both the aHC and pHC in all other groups co-varied with frontal, parietal and cerebellar areas; and (2) opposite structural covariance of the pHC in ε4 carriers compared to the aHC in non-carriers, with the pHC of ε4 carriers covarying with parietal and frontal areas, and the aHC of ε4 non-carriers covarying with motor areas and the middle frontal gyrus. APOE ε4 has in young adults been associated with better episodic and spatial memory, functions involving the aHC and pHC, respectively. We found no associations between structural covariance and performance, suggesting that other factors underlie the performance differences seen between carriers and non-carriers. Our findings indicate that APOE ε4 carriers and non-carriers differ in hippocampal organization and that there are differences as a function of sex and hippocampal segment. They stress the need to consider the hippocampus as a heterogeneous structure, and highlight the benefits of multivariate methods in assessing group differences in the brain. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Hot Charge Carrier Transmission from Plasmonic Nanostructures

    Science.gov (United States)

    Christopher, Phillip; Moskovits, Martin

    2017-05-01

    Surface plasmons have recently been harnessed to carry out processes such as photovoltaic current generation, redox photochemistry, photocatalysis, and photodetection, all of which are enabled by separating energetic (hot) electrons and holes—processes that, previously, were the domain of semiconductor junctions. Currently, the power conversion efficiencies of systems using plasmon excitation are low. However, the very large electron/hole per photon quantum efficiencies observed for plasmonic devices fan the hope of future improvements through a deeper understanding of the processes involved and through better device engineering, especially of critical interfaces such as those between metallic and semiconducting nanophases (or adsorbed molecules). In this review, we focus on the physics and dynamics governing plasmon-derived hot charge carrier transfer across, and the electronic structure at, metal-semiconductor (molecule) interfaces, where we feel the barriers contributing to low efficiencies reside. We suggest some areas of opportunity that deserve early attention in the still-evolving field of hot carrier transmission from plasmonic nanostructures to neighboring phases.

  5. Nuclear primary energy carriers. Short version

    Energy Technology Data Exchange (ETDEWEB)

    Jaeck, W

    1978-04-01

    Basing on our present knowledge the following energy sources for energy supply must be taken into consideration in the long term: regenerative energy sources, fission energy gained by breeder reactors, nuclear fusion. While regenerative energy sources were treated at full length in the study 'Energy Sources for Tomorrow' the present study specifies the other two energy options. The availability and the reliability of nuclear primary energy carrier supply is described in detail and the conversion systems available or still being developed are investigated with regard to their specific consumption of primary energy. Topical questions concerning the proliferation stability of the fuel cycles and techniques are subject to the INFCE program. With reference to the nuclear energy documentation activities of the Federal Government this study is supposed to supply further fundamental material on nuclear primary energy carriers, consumption and readiness for application. Thus it will contribute to the question: 'Is nuclear energy an option which guarantees energy supply in the long term for the Federal Republic of Germany'. (orig.) 891 UA 892 ARA.

  6. Facilitated transport near the carrier saturation limit

    Directory of Open Access Journals (Sweden)

    Anawat Sungpet

    2002-11-01

    Full Text Available Permeation of ethylbenzene, styrene and 1-hexene through perfluorosulfonate ionomer membranes was carried out with the feed concentrations ranging from 1 M to pure. On comparison, fluxes of ethylbenzene through the Ag+-form membrane were the lowest. Only a small increase in ethylbenzene flux was observed after the feed concentration exceeded 3 M, indicating the existence of carrier saturation. The increase in styrene flux was suppressed to some degree at high concentration driving forces. In contrast, 1-hexene flux was the highest and continued to increase even at very high feed concentrations. After the experiments with pure feeds, extraction of the solutes from the membranes revealed that 62.5% of Ag+ ions reacted with 1-hexene as against 40.6% for styrene and 28.9% for ethylbenzene. Equilibrium constants, determined by distribution method, of 1-hexene, styrene and ethylbenzene were 129, 2.2 and 0.7 M-1 respectively, which suggested that stability of the complex was a key factor in the carrier saturation phenomenon.

  7. Nuclear primary energy carriers. Pt. 1

    International Nuclear Information System (INIS)

    1978-04-01

    Basing on our present knowledge the following energy sources for energy supply must be taken into consideration in the long term: regenerative energy sources, fission energy gained by breeder reactors, nuclear fusion. While regenerative energy sources were treated at full length in the study 'Energy Sources for tomorrow' the present study specifies the other two energy options. The availability and the reliability of nuclear primary energy carrier supply is described in detail and the conversion systems available or still being developed are investigated with regard to their specific consumption of primary energy. Topical questions concerning the proliferation stability of the fuel cycles and techniques are subject to the INFCE programme. With reference to the nuclear energy documentation activities of the Federal Govenment this study is supposed to supply further fundamental material on nuclear primary energy carriers, consumption and readiness for application. Thus it will contribute to the question: 'Is nuclear energy an option which guarantees energy supply in the long term for the Federal Republic of Germany'. (orig.) [de

  8. On the concepts of carrier and specific activity in nuclear chemistry, radioanalytical chemistry and radiopharmaceutical chemistry

    International Nuclear Information System (INIS)

    Bonardi, Mauro L.

    2011-01-01

    At present a IUPAC Project regarding 'Terminology, Quantities and Units concerning Production and Applications of Radionuclides in Radiopharmaceutical and Radioanalytical Chemistry' states that: 'CARRIER is a chemical species - already present in the preparation or intentionally added - which will carry a given radionuclide in its associated species through the radiochemical procedure and/or prevents the radionuclide in its associated species from undergoing non-specific processes due to its low concentration'

  9. Nasal carriers are more likely to acquire exogenous Staphylococcus aureus strains than non-carriers.

    Science.gov (United States)

    Ghasemzadeh-Moghaddam, H; Neela, V; van Wamel, W; Hamat, R A; Shamsudin, M Nor; Hussin, N Suhaila Che; Aziz, M N; Haspani, M S Mohammad; Johar, A; Thevarajah, S; Vos, M; van Belkum, A

    2015-11-01

    We performed a prospective observational study in a clinical setting to test the hypothesis that prior colonization by a Staphylococcus aureus strain would protect, by colonization interference or other processes, against de novo colonization and, hence, possible endo-infections by newly acquired S. aureus strains. Three hundred and six patients hospitalized for >7 days were enrolled. For every patient, four nasal swabs (days 1, 3, 5, and 7) were taken, and patients were identified as carriers when a positive nasal culture for S. aureus was obtained on day 1 of hospitalization. For all patients who acquired methicillin-resistant S. aureus (MRSA) or methicillin-susceptible S. aureus via colonization and/or infection during hospitalization, strains were collected. We note that our study may suffer from false-negative cultures, local problems with infection control and hospital hygiene, or staphylococcal carriage at alternative anatomical sites. Among all patients, 22% were prior carriers of S. aureus, including 1.9% whom carried MRSA upon admission. The overall nasal staphylococcal carriage rate among dermatology patients was significantly higher than that among neurosurgery patients (n = 25 (55.5%) vs. n = 42 (16.1%), p 0.005). This conclusion held when the carriage definition included individuals who were nasal culture positive on day 1 and day 3 of hospitalization (p 0.0001). All MRSA carriers were dermatology patients. There was significantly less S. aureus acquisition among non-carriers than among carriers during hospitalization (p 0.005). The mean number of days spent in the hospital before experiencing MRSA acquisition in nasal carriers was 5.1, which was significantly lower than the score among non-carriers (22 days, p 0.012). In conclusion, we found that nasal carriage of S. aureus predisposes to rather than protects against staphylococcal acquisition in the nose, thereby refuting our null hypothesis. Copyright © 2015 European Society of Clinical

  10. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

    Science.gov (United States)

    Peterlongo, Paolo; Chang-Claude, Jenny; Moysich, Kirsten B; Rudolph, Anja; Schmutzler, Rita K; Simard, Jacques; Soucy, Penny; Eeles, Rosalind A; Easton, Douglas F; Hamann, Ute; Wilkening, Stefan; Chen, Bowang; Rookus, Matti A; Schmidt, Marjanka K; van der Baan, Frederieke H; Spurdle, Amanda B; Walker, Logan C; Lose, Felicity; Maia, Ana-Teresa; Montagna, Marco; Matricardi, Laura; Lubinski, Jan; Jakubowska, Anna; Gómez Garcia, Encarna B; Olopade, Olufunmilayo I; Nussbaum, Robert L; Nathanson, Katherine L; Domchek, Susan M; Rebbeck, Timothy R; Arun, Banu K; Karlan, Beth Y; Orsulic, Sandra; Lester, Jenny; Chung, Wendy K; Miron, Alex; Southey, Melissa C; Goldgar, David E; Buys, Saundra S; Janavicius, Ramunas; Dorfling, Cecilia M; van Rensburg, Elizabeth J; Ding, Yuan Chun; Neuhausen, Susan L; Hansen, Thomas V O; Gerdes, Anne-Marie; Ejlertsen, Bent; Jønson, Lars; Osorio, Ana; Martínez-Bouzas, Cristina; Benitez, Javier; Conway, Edye E; Blazer, Kathleen R; Weitzel, Jeffrey N; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Scuvera, Giulietta; Barile, Monica; Ficarazzi, Filomena; Mariette, Frederique; Fortuzzi, Stefano; Viel, Alessandra; Giannini, Giuseppe; Papi, Laura; Martayan, Aline; Tibiletti, Maria Grazia; Radice, Paolo; Vratimos, Athanassios; Fostira, Florentia; Garber, Judy E; Donaldson, Alan; Brewer, Carole; Foo, Claire; Evans, D Gareth R; Frost, Debra; Eccles, Diana; Brady, Angela; Cook, Jackie; Tischkowitz, Marc; Adlard, Julian; Barwell, Julian; Walker, Lisa; Izatt, Louise; Side, Lucy E; Kennedy, M John; Rogers, Mark T; Porteous, Mary E; Morrison, Patrick J; Platte, Radka; Davidson, Rosemarie; Hodgson, Shirley V; Ellis, Steve; Cole, Trevor; Godwin, Andrew K; Claes, Kathleen; Van Maerken, Tom; Meindl, Alfons; Gehrig, Andrea; Sutter, Christian; Engel, Christoph; Niederacher, Dieter; Steinemann, Doris; Plendl, Hansjoerg; Kast, Karin; Rhiem, Kerstin; Ditsch, Nina; Arnold, Norbert; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Wang-Gohrke, Shan; Bressac-de Paillerets, Brigitte; Buecher, Bruno; Delnatte, Capucine; Houdayer, Claude; Stoppa-Lyonnet, Dominique; Damiola, Francesca; Coupier, Isabelle; Barjhoux, Laure; Venat-Bouvet, Laurence; Golmard, Lisa; Boutry-Kryza, Nadia; Sinilnikova, Olga M; Caron, Olivier; Pujol, Pascal; Mazoyer, Sylvie; Belotti, Muriel; Piedmonte, Marion; Friedlander, Michael L; Rodriguez, Gustavo C; Copeland, Larry J; de la Hoya, Miguel; Segura, Pedro Perez; Nevanlinna, Heli; Aittomäki, Kristiina; van Os, Theo A M; Meijers-Heijboer, Hanne E J; van der Hout, Annemarie H; Vreeswijk, Maaike P G; Hoogerbrugge, Nicoline; Ausems, Margreet G E M; van Doorn, Helena C; Collée, J Margriet; Olah, Edith; Diez, Orland; Blanco, Ignacio; Lazaro, Conxi; Brunet, Joan; Feliubadalo, Lidia; Cybulski, Cezary; Gronwald, Jacek; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Sukiennicki, Grzegorz; Arason, Adalgeir; Chiquette, Jocelyne; Teixeira, Manuel R; Olswold, Curtis; Couch, Fergus J; Lindor, Noralane M; Wang, Xianshu; Szabo, Csilla I; Offit, Kenneth; Corines, Marina; Jacobs, Lauren; Robson, Mark E; Zhang, Liying; Joseph, Vijai; Berger, Andreas; Singer, Christian F; Rappaport, Christine; Kaulich, Daphne Geschwantler; Pfeiler, Georg; Tea, Muy-Kheng M; Phelan, Catherine M; Greene, Mark H; Mai, Phuong L; Rennert, Gad; Mulligan, Anna Marie; Glendon, Gord; Tchatchou, Sandrine; Andrulis, Irene L; Toland, Amanda Ewart; Bojesen, Anders; Pedersen, Inge Sokilde; Thomassen, Mads; Jensen, Uffe Birk; Laitman, Yael; Rantala, Johanna; von Wachenfeldt, Anna; Ehrencrona, Hans; Askmalm, Marie Stenmark; Borg, Åke; Kuchenbaecker, Karoline B; McGuffog, Lesley; Barrowdale, Daniel; Healey, Sue; Lee, Andrew; Pharoah, Paul D P; Chenevix-Trench, Georgia; Antoniou, Antonis C; Friedman, Eitan

    2015-01-01

    BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants in many candidate modifier genes. Genotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach. The observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments. There is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. ©2014 American Association for Cancer Research.

  11. Long-lived hot-carrier light emission and large blue shift in formamidinium tin triiodide perovskites.

    Science.gov (United States)

    Fang, Hong-Hua; Adjokatse, Sampson; Shao, Shuyan; Even, Jacky; Loi, Maria Antonietta

    2018-01-16

    A long-lived hot carrier population is critical in order to develop working hot carrier photovoltaic devices with efficiencies exceeding the Shockley-Queisser limit. Here, we report photoluminescence from hot-carriers with unexpectedly long lifetime (a few ns) in formamidinium tin triiodide. An unusual large blue shift of the time-integrated photoluminescence with increasing excitation power (150 meV at 24 K and 75 meV at 293 K) is displayed. On the basis of the analysis of energy-resolved and time-resolved photoluminescence, we posit that these phenomena are associated with slow hot carrier relaxation and state-filling of band edge states. These observations are both important for our understanding of lead-free hybrid perovskites and for an eventual future development of efficient lead-free perovskite photovoltaics.

  12. Investigation of cosmogenic radionuclide carriers in the atmosphere

    International Nuclear Information System (INIS)

    Lujaniene, G.

    2000-01-01

    Speciation of 7 Be, 32 P, 33 P, 35 S and stable S carriers and their changes in the atmosphere were investigated. It has been determined that aerosol-carriers of 7 Be, 32 P and 33 P radionuclides can have different properties, and after several days their transformation was observed. The amount of water-soluble carriers in aerosol samples differed widely (from 11 to 95 %). The dependence of radionuclide carrier solubility on pH was obtained for 7 Be, 32 P and 33 P. It has been found that 7 Be carriers can be soluble compounds such as mixed chlorides, sulphates and nitrates as well as insoluble carbonates and insoluble hydrous Fe(III) oxides. High percentage of 32 P and 33 P was found in exchangeable fraction. The 35 S carriers were found to be more soluble than those of 7 Be, 32 P and 33 P and exhibited a lower or the same solubility as stable sulphur. (author)

  13. Biomacromolecules as carriers in drug delivery and tissue engineering.

    Science.gov (United States)

    Zhang, Yujie; Sun, Tao; Jiang, Chen

    2018-01-01

    Natural biomacromolecules have attracted increased attention as carriers in biomedicine in recent years because of their inherent biochemical and biophysical properties including renewability, nontoxicity, biocompatibility, biodegradability, long blood circulation time and targeting ability. Recent advances in our understanding of the biological functions of natural-origin biomacromolecules and the progress in the study of biological drug carriers indicate that such carriers may have advantages over synthetic material-based carriers in terms of half-life, stability, safety and ease of manufacture. In this review, we give a brief introduction to the biochemical properties of the widely used biomacromolecule-based carriers such as albumin, lipoproteins and polysaccharides. Then examples from the clinic and in recent laboratory development are summarized. Finally the current challenges and future prospects of present biological carriers are discussed.

  14. Carrier tracking by smoothing filter improves symbol SNR

    Science.gov (United States)

    Pomalaza-Raez, Carlos A.; Hurd, William J.

    1986-01-01

    The potential benefit of using a smoothing filter to estimate carrier phase over use of phase locked loops (PLL) is determined. Numerical results are presented for the performance of three possible configurations of the deep space network advanced receiver. These are residual carrier PLL, sideband aided residual carrier PLL, and finally sideband aiding with a Kalman smoother. The average symbol signal to noise ratio (SNR) after losses due to carrier phase estimation error is computed for different total power SNRs, symbol rates and symbol SNRs. It is found that smoothing is most beneficial for low symbol SNRs and low symbol rates. Smoothing gains up to 0.4 dB over a sideband aided residual carrier PLL, and the combined benefit of smoothing and sideband aiding relative to a residual carrier loop is often in excess of 1 dB.

  15. Carrier tracking by smoothing filter can improve symbol SNR

    Science.gov (United States)

    Hurd, W. J.; Pomalaza-Raez, C. A.

    1985-01-01

    The potential benefit of using a smoothing filter to estimate carrier phase over use of phase locked loops (PLL) is determined. Numerical results are presented for the performance of three possible configurations of the deep space network advanced receiver. These are residual carrier PLL, sideband aided residual carrier PLL, and finally sideband aiding with a Kalman smoother. The average symbol signal to noise ratio (CNR) after losses due to carrier phase estimation error is computed for different total power SNRs, symbol rates and symbol SNRs. It is found that smoothing is most beneficial for low symbol SNRs and low symbol rates. Smoothing gains up to 0.4 dB over a sideband aided residual carrier PLL, and the combined benefit of smoothing and sideband aiding relative to a residual carrier loop is often in excess of 1 dB.

  16. Poisoning of liquid membrane carriers in extraction of metal ions

    International Nuclear Information System (INIS)

    Wang, Yuchun; Wang, Dexian

    1992-01-01

    As means of effective separation and preconcentration, emulsion liquid membranes (ELMs) have found application in many fields including biochemical separation, wastewater treatment, hydrometallurgy, and preconcentration in analytical chemistry. In the extraction of desired metal (scandium, mixed rare earths) ions using chelating extractants (TTA, HDEHP) as liquid membrane carriers, the carriers will become poisoned owing to the presence of even minute quantity of certain high ionic potential ions in the feed solution. The reason for the poisoning of carriers is that those ions have so much greater affinity than the desired ions for the membrane carrier that the ion-carrier coordination compound cannot be stripped at the interior interface of the membrane and gradually no more free carrier transports any metal ions across the membrane. The calculated results are in agreement with the experiments, and methods to avoid the poisoning are given in the paper

  17. Meiotic recombination, synapsis, meiotic inactivation and sperm aneuploidy in a chromosome 1 inversion carrier.

    Science.gov (United States)

    Kirkpatrick, Gordon; Chow, Victor; Ma, Sai

    2012-01-01

    Disrupted meiotic behaviour of inversion carriers may be responsible for suboptimal sperm parameters in these carriers. This study investigated meiotic recombination, synapsis, transcriptional silencing and chromosome segregation effects in a pericentric inv(1) carrier. Recombination (MLH1), synapsis (SYCP1, SYCP3) and transcriptional inactivation (γH2AX, BRCA1) were examined by fluorescence immunostaining. Chromosome specific rates of recombination were determined by fluorescence in-situ hybridization. Furthermore, testicular sperm was examined for aneuploidy and segregation of the inv(1). Our findings showed that global recombination rates were similar to controls. Recombination on the inv(1) and the sex chromosomes were reduced. The inv(1) associated with the XY body in 43.4% of cells, in which XY recombination was disproportionately absent, and 94.3% of cells displayed asynapsed regions which displayed meiotic silencing regardless of their association with the XY body. Furthermore, a low frequency of chromosomal imbalance was observed in spermatozoa (3.4%). Our results suggest that certain inversion carriers may display unimpaired global recombination and impaired recombination on the involved and the sex chromosomes during meiosis. Asynapsis or inversion-loop formation in the inverted region may be responsible for impaired spermatogenesis and may prevent sperm-chromosome imbalance. Copyright © 2011 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  18. Time Resolved Studies of Carrier Dynamics in III -v Heterojunction Semiconductors.

    Science.gov (United States)

    Westland, Duncan James

    Available from UMI in association with The British Library. Requires signed TDF. Picosecond time-resolution photoluminescence spectroscopy has been used to study transient processes in Ga _{.47}In_{.53 }As/InP multiple quantum wells (MQWs), and in bulk Ga_{.47}In _{.53}As and GaSb. To facilitate the experimental studies, apparatus was constructed to allow the detection of transient luminescence with 3ps time resolution. A frequency upconversion technique was employed. Relaxation of energetic carriers in bulk Ga _{.47}In_{.53 }As by optic phonons has been investigated, and, at carrier densities ~3 times 10^{18}cm ^{-3} is found to be a considerably slower process than simple theory predicts. The discrepancy is resolved by the inclusion of a non-equilibrium population of longitudinal optic phonons in the theoretical description. Slow energy loss is also observed in a 154A MQW under similar conditions, but carriers are found to relax more quickly in a 14A MQW with a comparable repeat period. The theory of non-equilibrium mode occupation is modified to describe the case of a MQW and is found to agree with experiment. Carrier relaxation in GaSb is studied and the importance of occupation of the L _6 conduction band valley in this material is demonstrated. The ambipolar diffusion of a photoexcited carrier plasma through an InP capping layer was investigated using an optical time-of-flight technique. This experiment also enables the efficiency of carrier capture by a Ga _{.47}In_{.53 }As quantum well to be determined. A capture time of 4ps was found.

  19. Hot-carrier effects on irradiated deep submicron NMOSFET

    International Nuclear Information System (INIS)

    Cui Jiangwei; Zheng Qiwen; Yu Xuefeng; Cong Zhongchao; Zhou Hang; Guo Qi; Wen Lin; Wei Ying; Ren Diyuan

    2014-01-01

    We investigate how γ exposure impacts the hot-carrier degradation in deep submicron NMOSFET with different technologies and device geometries for the first time. The results show that hot-carrier degradations on irradiated devices are greater than those without irradiation, especially for narrow channel device. The reason is attributed to charge traps in STI, which then induce different electric field and impact ionization rates during hot-carrier stress. (semiconductor devices)

  20. Carrier Statistics and Quantum Capacitance Models of Graphene Nanoscroll

    Directory of Open Access Journals (Sweden)

    M. Khaledian

    2014-01-01

    schematic perfect scroll-like Archimedes spiral. The DOS model was derived at first, while it was later applied to compute the carrier concentration and quantum capacitance model. Furthermore, the carrier concentration and quantum capacitance were modeled for both degenerate and nondegenerate regimes, along with examining the effect of structural parameters and chirality number on the density of state and carrier concentration. Latterly, the temperature effect on the quantum capacitance was studied too.

  1. Computer assisted analysis of hand radiographs in infantile hypophosphatasia carriers

    International Nuclear Information System (INIS)

    Chodirker, B.N.; Greenberg, C.R.; Manitoba Univ., Winnipeg, MB; Roy, D.; Cheang, M.; Evans, J.A.; Manitoba Univ., Winnipeg, MB; Manitoba Univ., Winnipeg, MB; Reed, M.H.; Manitoba Univ., Winnipeg, MB

    1991-01-01

    Hand radiographs of 49 carriers of infantile hypophosphatasia and 67 non-carriers were evaluated using two Apple IIe Computer Programs and Apple Graphics Tablet. CAMPS was used to determine the bone lengths and calculate the metacarpophalangeal profiles. A newly developed program (ADAM) was used to determine bone density based on percent cortical area of the second metacarpal. Carriers of infantile hypophosphatasia had significantly less dense bones. (orig.)

  2. Insight into carrier lifetime impact on band-modulation devices

    Science.gov (United States)

    Parihar, Mukta Singh; Lee, Kyung Hwa; Park, Hyung Jin; Lacord, Joris; Martinie, Sébastien; Barbé, Jean-Charles; Xu, Yue; El Dirani, Hassan; Taur, Yuan; Cristoloveanu, Sorin; Bawedin, Maryline

    2018-05-01

    A systematic study to model and characterize the band-modulation Z2-FET device is developed bringing light to the relevance of the carrier lifetime influence. This work provides guidelines to optimize the Z2-FETs for sharp switching, ESD protection, and 1T-DRAM applications. Lower carrier lifetime in the Z2-FET helps in attaining the sharp switch. We provide new insights into the correlation between generation/recombination, diffusion, electrostatic barriers and carrier lifetime.

  3. Suspended biofilm carrier and activated sludge removal of acidic pharmaceuticals

    DEFF Research Database (Denmark)

    Falås, Per; Baillon-Dhumez, Aude; Andersen, Henrik Rasmus

    2012-01-01

    Removal of seven active pharmaceutical substances (ibuprofen, ketoprofen, naproxen, diclofenac, clofibric acid, mefenamic acid, and gemfibrozil) was assessed by batch experiments, with suspended biofilm carriers and activated sludge from several full-scale wastewater treatment plants. A distinct...... and attached solids for the carriers) of diclofenac, ketoprofen, gemfibrozil, clofibric acid and mefenamic acid compared to the sludges. Among the target pharmaceuticals, only ibuprofen and naproxen showed similar removal rates per unit biomass for the sludges and biofilm carriers. In contrast...

  4. Nonlinear gain suppression in semiconductor lasers due to carrier heating

    International Nuclear Information System (INIS)

    Willatzen, M.; Uskov, A.; Moerk, J.; Olesen, H.; Tromborg, B.; Jauho, A.P.

    1991-01-01

    We present a simple model for carrier heating in semiconductor lasers, from which the temperature dynamics of the electron and hole distributions can be calculated. Analytical expressions for two new contributions to the nonlinear gain coefficient ε are derived, which reflect carrier heating due to stimulated emission and free carrier absorption. In typical cases, carrier heating and spectral holeburning are found to give comparable contributions to nonlinear gain suppression. The results are in good agreement with recent measurements on InGaAsP laser diodes. (orig.)

  5. Slow hot carrier cooling in cesium lead iodide perovskites

    Science.gov (United States)

    Shen, Qing; Ripolles, Teresa S.; Even, Jacky; Ogomi, Yuhei; Nishinaka, Koji; Izuishi, Takuya; Nakazawa, Naoki; Zhang, Yaohong; Ding, Chao; Liu, Feng; Toyoda, Taro; Yoshino, Kenji; Minemoto, Takashi; Katayama, Kenji; Hayase, Shuzi

    2017-10-01

    Lead halide perovskites are attracting a great deal of interest for optoelectronic applications such as solar cells, LEDs, and lasers because of their unique properties. In solar cells, heat dissipation by hot carriers results in a major energy loss channel responsible for the Shockley-Queisser efficiency limit. Hot carrier solar cells offer the possibility to overcome this limit and achieve energy conversion efficiency as high as 66% by extracting hot carriers. Therefore, fundamental studies on hot carrier relaxation dynamics in lead halide perovskites are important. Here, we elucidated the hot carrier cooling dynamics in all-inorganic cesium lead iodide (CsPbI3) perovskite using transient absorption spectroscopy. We observe that the hot carrier cooling rate in CsPbI3 decreases as the fluence of the pump light increases and the cooling is as slow as a few 10 ps when the photoexcited carrier density is 7 × 1018 cm-3, which is attributed to phonon bottleneck for high photoexcited carrier densities. Our findings suggest that CsPbI3 has a potential for hot carrier solar cell applications.

  6. Carrier concentration effects on radiation damage in InP

    International Nuclear Information System (INIS)

    Yamaguchi, M.; Ando, K.; Uemura, C.

    1984-01-01

    Minority carrier diffusion length and carrier concentration studies have been made on room-temperature 1-MeV electron irradiated liquid-encapsulated Czochralski grown Zn-doped p-InP. The damage rate for the diffusion length and carrier removal rate due to irradiation have been found to strongly decrease with an increase in the carrier concentration in InP. These phenomena suggest that the induced defects interact with impurities in InP. A preliminary study on the annealing behavior has also been performed

  7. Preparation of microorganism free carrier for biofertilizer product

    International Nuclear Information System (INIS)

    Latiffah Norddin; Maizatul Akmam Mhd Nasir; Phua Choo Kwai Hoe

    2007-01-01

    Biofertilizer has been identified as an alternative or complementary to chemical fertilizer to increase soil fertility and crop production in sustainable farming. Biofertilizers are products containing living cells of different types of known microorganisms that may increase crop productivity through N2 fixation, phosphate solubilization or stimulation of plant growth by synthesising phytohormones. A good biofertilizer product needs a good carrier or substrate. A good carrier is free from microbial contamination and can optimise the growth of the biofertilizer microorganisms. Compost is commonly used as carrier or substrate for biofertilizer microorganisms. In the present study, compost produced by Nuclear Malaysia using the Natural Farming was used as a carrier for the biofertilizer products. Gamma irradiation has been used to produce a ?clean? or sterile carrier. The sterilization effect of the carrier was checked by using serial dilution technique. Carriers that were irradiated at 50 kGy of gamma irradiation were found to be sterile. The shelf life of the sterile carriers was also determined. After six months the compost carriers were still free from microbial contamination. (Author)

  8. Carrier-mediated transport of peptides by the kidney

    International Nuclear Information System (INIS)

    Skopicki, H.A.

    1988-01-01

    Small peptide transport was characterized to determine if: (1) Multiple carriers are present in the luminal membrane of renal proximal tubular cells; (2) Carrier-mediated peptide transport is limited by size; and (3) Gentamicin inhibits carrier-mediated reabsorption of peptides. Uptake of glycyl-[ 3 H]proline (Gly-Pro) into renal brush border membrane vesicles demonstrated a dual affinity carrier system. Whether multiple carriers are present was further investigated by characterizing the uptake of [ 3 H]pyroglutamyl-histidine. To determine if carrier-mediated transport of peptides is limited by size of the molecule, uptake of the hydrolytically resistant tripeptide, [ 3 H]pryroglutamyl-histidyl-tryptophan (pGlu-His-Trp), and tetrapeptide, [ 3 H]pyroglutamyl-histidyl-tryptophyl-serine (pGlu-His-Trp-Ser) were assessed. These data indicate: multiple carriers exist on the luminal membrane of renal proximal tubular cells for the transport of dipeptides, and tripeptide pGlu-His-Trp and the tetrapeptide pGlu-His-Trp-Ser are not taken up by a carrier-mediated mechanism, suggesting that the carrier may be limited by the size of the substrate

  9. Controlling of carrier movement on gamma irradiator ISG-500

    International Nuclear Information System (INIS)

    Achmad Suntoro

    2010-01-01

    Gamma irradiator ISG-500 is being designed. One of the design objects in the gamma irradiator is carrier movement and its controlling. Many possibilities of carrier movements can be implemented in the set-up design, such as using discrete or continuous mode. In this paper, selected discrete carriers movement and their controlling for the basic-design of the ISG-500 will be discussed. Nine stopper locations for nineteen carriers in operation will be controlled their carriers movement so that the movements have maximum positive transient load (increasing load) two carriers only. The controlling of the movement uses a train of pulses counting system as a one-dimension coordinate reference of a point on the rotated chain pulling the carrier. Every stopper location has a specific counting number in which will be used by the controlling system to let the carrier in the stopper location moving. By this movement, it is expected to prolong the life-time of the in use carrier mover motor. (author)

  10. Carrier illumination measurement of dopant lateral diffusion

    International Nuclear Information System (INIS)

    Budiarto, E.; Segovia, M.; Borden, P.; Felch, S.

    2005-01-01

    This paper describes the application of the carrier illumination technique to non-destructively measure the lateral diffusion of implanted dopants after annealing. Experiments to validate the feasibility of this method employed test structures with a constant line width of 300 nm and varying undoped spaces of 100-5000 nm. The test patterns were implanted with a p-type dopant and annealed in a 3 x 3 matrix. For each implant condition, the measured lateral diffusion was found to increase with annealing temperature, as expected. More interestingly, the lateral diffusion was not observed to relate to the vertical diffusion by a fixed proportionality factor, as is usually assumed. The ratio of lateral to vertical diffusion varies with annealing temperature, with a trend that depends on the implant condition

  11. Modeling malware propagation using a carrier compartment

    Science.gov (United States)

    Hernández Guillén, J. D.; Martín del Rey, A.

    2018-03-01

    The great majority of mathematical models proposed to simulate malware spreading are based on systems of ordinary differential equations. These are compartmental models where the devices are classified according to some types: susceptible, exposed, infectious, recovered, etc. As far as we know, there is not any model considering the special class of carrier devices. This type is constituted by the devices whose operative systems is not targeted by the malware (for example, iOS devices for Android malware). In this work a novel mathematical model considering this new compartment is considered. Its qualitative study is presented and a detailed analysis of the efficient control measures is shown by studying the basic reproductive number.

  12. Electromigration of carrier-free radionuclides. 15

    International Nuclear Information System (INIS)

    Roesch, F.; Reimann, T.; Buglanov, G.V.; Milanov, M.; Khalkin, V.A.; Dreyer, R.

    1988-01-01

    Using a special type of on line electromigration measurements of γ-emitting radionuclides in homogeneous electrolytes free of supporting materials the hydrolysis and the complex formations of carrier-free 249 Cf-Cf(III) with oxalate in diluted perchlorate electrolytes, T = 2.98.1(1) K, were studied. Stoichiometric hydrolysis constants of pβ 3 18.6(9) and pK 1 = 6.2(2) were calculated in μ = 0.10 electrolytes. For the formation of anionic hydrolysis products a limitation of pK 4 ≥ 13.9(3) was derived. The stoichiometric stability constants of the oxalato complexes are lgK 1 4.80(8) and lgK 2 = 3.55(11), μ = 0.01. (author)

  13. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Science.gov (United States)

    Peterlongo, Paolo; Chang-Claude, Jenny; Moysich, Kirsten B.; Rudolph, Anja; Schmutzler, Rita K.; Simard, Jacques; Soucy, Penny; Eeles, Rosalind A.; Easton, Douglas F.; Hamann, Ute; Wilkening, Stefan; Chen, Bowang; Rookus, Matti A.; Schmidt, Marjanka K; van der Baan, Frederieke H.; Spurdle, Amanda B.; Walker, Logan C.; Lose, Felicity; Maia, Ana-Teresa; Montagna, Marco; Matricardi, Laura; Lubinski, Jan; Jakubowska, Anna; Gómez Garcia, Encarna B.; Olopade, Olufunmilayo I.; Nussbaum, Robert L.; Nathanson, Katherine L.; Domchek, Susan M.; Rebbeck, Timothy R.; Arun, Banu K.; Karlan, Beth Y.; Orsulic, Sandra; Lester, Jenny; Chung, Wendy K.; Miron, Alex; Southey, Melissa C.; Goldgar, David E.; Buys, Saundra S.; Janavicius, Ramunas; Dorfling, Cecilia M.; van Rensburg, Elizabeth J.; Ding, Yuan Chun; Neuhausen, Susan L.; Hansen, Thomas V. O.; Gerdes, Anne-Marie; Ejlertsen, Bent; Jønson, Lars; Osorio, Ana; Martínez-Bouzas, Cristina; Benitez, Javier; Conway, Edye E.; Blazer, Kathleen R.; Weitzel, Jeffrey N.; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Scuvera, Giulietta; Barile, Monica; Ficarazzi, Filomena; Mariette, Frederique; Fortuzzi, Stefano; Viel, Alessandra; Giannini, Giuseppe; Papi, Laura; Martayan, Aline; Tibiletti, Maria Grazia; Radice, Paolo; Vratimos, Athanassios; Fostira, Florentia; Garber, Judy E.; Donaldson, Alan; Brewer, Carole; Foo, Claire; Evans, D. Gareth R.; Frost, Debra; Eccles, Diana; Brady, Angela; Cook, Jackie; Tischkowitz, Marc; Adlard, Julian; Barwell, Julian; Walker, Lisa; Izatt, Louise; Side, Lucy E.; Kennedy, M. John; Rogers, Mark T.; Porteous, Mary E.; Morrison, Patrick J.; Platte, Radka; Davidson, Rosemarie; Hodgson, Shirley V.; Ellis, Steve; Cole, Trevor; Godwin, Andrew K.; Claes, Kathleen; Van Maerken, Tom; Meindl, Alfons; Gehrig, Andrea; Sutter, Christian; Engel, Christoph; Niederacher, Dieter; Steinemann, Doris; Plendl, Hansjoerg; Kast, Karin; Rhiem, Kerstin; Ditsch, Nina; Arnold, Norbert; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Wang-Gohrke, Shan; Bressac-de Paillerets, Brigitte; Buecher, Bruno; Delnatte, Capucine; Houdayer, Claude; Stoppa-Lyonnet, Dominique; Damiola, Francesca; Coupier, Isabelle; Barjhoux, Laure; Venat-Bouvet, Laurence; Golmard, Lisa; Boutry-Kryza, Nadia; Sinilnikova, Olga M.; Caron, Olivier; Pujol, Pascal; Mazoyer, Sylvie; Belotti, Muriel; Piedmonte, Marion; Friedlander, Michael L.; Rodriguez, Gustavo C.; Copeland, Larry J; de la Hoya, Miguel; Segura, Pedro Perez; Nevanlinna, Heli; Aittomäki, Kristiina; van Os, Theo A.M.; Meijers-Heijboer, Hanne E.J.; van der Hout, Annemarie H.; Vreeswijk, Maaike P.G.; Hoogerbrugge, Nicoline; Ausems, Margreet G.E.M.; van Doorn, Helena C.; Collée, J. Margriet; Olah, Edith; Diez, Orland; Blanco, Ignacio; Lazaro, Conxi; Brunet, Joan; Feliubadalo, Lidia; Cybulski, Cezary; Gronwald, Jacek; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Sukiennicki, Grzegorz; Arason, Adalgeir; Chiquette, Jocelyne; Teixeira, Manuel R.; Olswold, Curtis; Couch, Fergus J.; Lindor, Noralane M.; Wang, Xianshu; Szabo, Csilla I.; Offit, Kenneth; Corines, Marina; Jacobs, Lauren; Robson, Mark E.; Zhang, Liying; Joseph, Vijai; Berger, Andreas; Singer, Christian F.; Rappaport, Christine; Kaulich, Daphne Geschwantler; Pfeiler, Georg; Tea, Muy-Kheng M.; Phelan, Catherine M.; Greene, Mark H.; Mai, Phuong L.; Rennert, Gad; Mulligan, Anna Marie; Glendon, Gord; Tchatchou, Sandrine; Andrulis, Irene L.; Toland, Amanda Ewart; Bojesen, Anders; Pedersen, Inge Sokilde; Thomassen, Mads; Jensen, Uffe Birk; Laitman, Yael; Rantala, Johanna; von Wachenfeldt, Anna; Ehrencrona, Hans; Askmalm, Marie Stenmark; Borg, Åke; Kuchenbaecker, Karoline B.; McGuffog, Lesley; Barrowdale, Daniel; Healey, Sue; Lee, Andrew; Pharoah, Paul D.P.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Friedman, Eitan

    2014-01-01

    Background BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and non-genetic modifying factors. In this study we evaluated the putative role of variants in many candidate modifier genes. Methods Genotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n=3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach. Results The observed p-values of association ranged between 0.005-1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments. Conclusion There is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. Impact Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. PMID:25336561

  14. Estudo de fatores associados à adesão ao tratamento não farmacológico em portadores de diabetes mellitus assistidos pelo Programa Saúde da Família, Ventosa, Belo Horizonte A study of factors associated to non-pharmacological treatment delivered by the Family Health Program in Ventosa, Belo Horizonte, to carriers of diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Thaís Silva Assunção

    2008-12-01

    Full Text Available O diabetes mellitus vem se tornando um dos principais problemas de saúde pública no Brasil. Há vários fatores que podem contribuir para a baixa adesão ao tratamento. O objetivo deste estudo foi investigar a associação entre fatores educacionais, demográficos, socioeconômicos, de saúde, percepção da doença, suporte social e adesão ao tratamento não farmacológico em portadores de diabetes mellitus assistidos pelo Programa Saúde da Família do Centro de Saúde Ventosa, em Belo Horizonte. As informações foram obtidas através de entrevistas com 164 diabéticos que estavam aguardando o acolhimento do Centro de Saúde. Na análise univariada, verificou-se associação significante entre a adesão ao tratamento não farmacológico e baixa renda, local de residência, conhecimento sobre complicações, motivação com o tratamento, fazer parte de grupo de diabéticos e orientações recebidas pelo enfermeiro e fisioterapeuta. Após análise multivariada, as variáveis "motivação com o tratamento" e "faz parte de algum grupo de diabético" foram estatisticamente significativas para a adesão total (pDiabetes Mellitus is turning into one of the main public health problems in Brazil. Many factors may contribute to the low adherence to treatment. The objective of this study was to investigate the association between educational and social-economic factors and factors related to the health, the perception of disease, social support and adherence to non-pharmacological treatment of carriers of diabetes mellitus assisted in the family health program of the Health Center in Ventosa, Belo Horizonte. Data were collected in interviews with 164 diabetics who were waiting for assistance in the health center. Univariate analysis showed significant association between adhesion to the non-pharmacological treatment and low income; place of residence; knowledge about consequences; motivation with regard to the treatment; making part of a diabetics

  15. Carrier-added and no-carrier-added syntheses of [18F]spiroperidol and [18F]haloperidol

    International Nuclear Information System (INIS)

    Kilbourn, M.R.; Welch, M.J.; Dence, C.S.; Tewson, T.J.; Saji, H.; Maeda, M.

    1984-01-01

    Syntheses of [ 18 F]haloperidol and [ 18 F]spiroperidol in both no-carrier-added and carrier-added forms have been accomplished. The no-carrier-added [ 18 F]butyrophenone neuroleptics were prepared in low ( 18 F-neuroleptics were prepared in better (5-17%) yields by 18 F-for- 19 F nucleophilic aromatic substitution. The preparation of all synthetic precursors, and procedures for radiolabeling are fully described. (author)

  16. Determinants for Clinical Events in Gallstone Carriers Unaware of their Gallstones

    DEFF Research Database (Denmark)

    Mønsted Shabanzadeh, Daniel; Sørensen, Lars Tue; Jørgensen, Torben

    2017-01-01

    , vocational training, and inversely association to a higher physical activity level when compared to being sedentary. Multiple adjusted models confirmed association for total events and body mass index and for complicated events and physical activity. No significant associations were identified for alcohol......, coffee, diet, smoking, or visits to general practitioner and clinical events. CONCLUSIONS: Body mass index, vocational training, and physical activity level were associated to clinical events in long-term follow-up of unaware gallstone carriers. Future trials should investigate clinical effects...

  17. Physical Therapists Forward Deployed on Aircraft Carriers: A Retrospective Look at a Decade of Service.

    Science.gov (United States)

    Rosenthal, Michael D; Ziemke, Gregg W; Bush, Matthew L; Halfpap, Joshua

    2018-04-25

    Navy physical therapists (PTs) have been a part of ship's company aboard Aircraft Carriers since 2002 due to musculoskeletal injuries being the number one cause of lost duty time and disability. This article describes a decade of physical therapy services provided aboard aircraft carriers. A retrospective survey was conducted to evaluate the types of services provided, volume of workload, value of services provided, and impact of PTs on operational readiness for personnel aboard Naval aircraft carriers. Thirty-four reports documenting workload from PTs stationed onboard aircraft carriers were collected during the first decade of permanent PT assignment to aircraft carriers. This report quantifies a 10-yr period of physical therapy services (PT and PT Technician) in providing musculoskeletal care within the carrier strike group and adds to existing literature demonstrating a high demand for musculoskeletal care in operational platforms. A collective total of 144,211 encounters were reported during the 10-yr period. The number of initial evaluations performed by the PT averaged 1,448 per assigned tour. The average number of follow-up appointments performed by the PT per tour was 1,440. The average number of treatment appointments per tour provided by the PT and PT technician combined was 1,888. The average number of visits per patient, including the initial evaluation, was 3.3. Sixty-five percent (65%) of the workload occurred while deployed or out to sea during training periods. It was estimated that 213 medical evacuations were averted over the 10-yr period. There were no reports of adverse events or quality of care reviews related to the care provided by the PT and/or PT technician. Access to early PT intervention aboard aircraft carriers was associated with a better utilization ratio (lower average number of visits per condition) than has been reported in prior studies and suggests an effective utilization of medical personnel resources. The impact of Navy PTs

  18. Nanostructured Lipid Carriers Loaded with Baicalin: An Efficient Carrier for Enhanced Antidiabetic Effects.

    Science.gov (United States)

    Shi, Feng; Wei, Zheng; Zhao, Yingying; Xu, Ximing

    2016-01-01

    Recent studies have demonstrated that baicalin has antihyperglycemic effects by inhibiting lipid peroxidation. Baicalin is low hydrophilic and poorly absorbed after oral administration. Thus, a suitable formulation is highly desired to overcome the disadvantages of baicalin. The objective of this work was to prepare baicalin-loaded nanostructured lipid carriers (B-NLCs) for enhanced antidiabetic effects. B-NLCs were prepared by high-pressure homogenization method using Precirol as the solid lipid and Miglyol as the liquid lipid. The properties of the NLCs, such as particle size, zeta potential (ZP), and drug encapsulation efficiency (EE), were investigated. The morphology of NLCs was observed by transmission electron microscopy. In addition, drug release and antidiabetic activity were also studied. The results revealed that B-NLCs particles were uniformly in the nanosize range and of spherical morphology with a mean size of 92 ± 3.1 nm, a ZP of -31.35 ± 3.08 mV, and an EE of 85.29 ± 3.42%. Baicalin was released from NLCs in a sustained manner. In addition, B-NLCs showed a significantly higher antidiabetic efficacy compared with baicalin. B-NLCs described in this study are well-suited for the delivery of baicalin. Currently, herbal medicines have attracted increasing attention as a complementary approach for type 2 diabetesBaicalin has antihyperglycemic effects by inhibiting lipid peroxidationA suitable formulation is highly desired to overcome the disadvantages (poor solubility and low bioavailability) of baicalinNanostructured lipid carriers could enhance the antidiabetic effects of baicalin. Abbreviations used: B-NLCs: Baicalin-Loaded Nanostructured Lipid Carriers, B-SUS: Baicalin Water Suspension, EE: Encapsulation Efficiency, FBG: Fasting Blood Glucose, HbAlc: Glycosylated Hemoglobin, HPLC: High-performance Liquid Chromatography; NLCs: Nanostructured Lipid Carriers, PI: Polydispersity Index, SD: Sprague-Dawley, SLNs: Solid lipid nanoparticles, STZ

  19. A joint recovery scheme for carrier frequency offset and carrier phase noise using extended Kalman filter

    Science.gov (United States)

    Li, Linqian; Feng, Yiqiao; Zhang, Wenbo; Cui, Nan; Xu, Hengying; Tang, Xianfeng; Xi, Lixia; Zhang, Xiaoguang

    2017-07-01

    A joint carrier recovery scheme for polarization division multiplexing (PDM) coherent optical transmission system is proposed and demonstrated, in which the extended Kalman filter (EKF) is exploited to estimate and equalize the carrier frequency offset (CFO) and carrier phase noise (CPN) simultaneously. The proposed method is implemented and verified in the PDM-QPSK system and the PDM-16QAM system with the comparisons to conventional improved Mth-power (IMP) algorithm for CFO estimation, blind phase search (BPS) algorithm or Viterbi-Viterbi (V-V) algorithm for CPN recovery. It is demonstrated that the proposed scheme shows high CFO estimation accuracy, with absolute mean estimation error below 1.5 MHz. Meanwhile, the proposed method has the CFO tolerance of [±3 GHz] for PDM-QPSK system and [±0.9 GHz] for PDM-16QAM system. Compare with IMP/BPS and IMP/V-V, the proposed scheme can enhance the linewidth symbol duration product from 3 × 10-4 (IMP/BPS) and 2 × 10-4 (IMP/V-V) to 1 × 10-3 for PDM-QPSK, and from 1 × 10-4 (IMP/BPS) to 3 × 10-4 for PDM-16QAM, respectively, at the 1 dB optical signal-to-noise ratio (OSNR) penalty. The proposed Kalman filter also shows a fast convergence with only 100 symbols and much lower computational complexity.

  20. A non-synonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

    Science.gov (United States)

    Ding, Yuan C.; McGuffog, Lesley; Healey, Sue; Friedman, Eitan; Laitman, Yael; Shani-Shimon–Paluch; Kaufman, Bella; Liljegren, Annelie; Lindblom, Annika; Olsson, Håkan; Kristoffersson, Ulf; Stenmark-Askmalm, Marie; Melin, Beatrice; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy R.; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Gronwald, Jacek; Huzarski, Tomasz; Cybulski, Cezary; Byrski, Tomasz; Osorio, Ana; Cajal, Teresa Ramóny; Stavropoulou, Alexandra V; Benítez, Javier; Hamann, Ute; Rookus, Matti; Aalfs, Cora M.; de Lange, Judith L.; Meijers-Heijboer, Hanne E.J.; Oosterwijk, Jan C.; van Asperen, Christi J.; García, Encarna B. Gómez; Hoogerbrugge, Nicoline; Jager, Agnes; van der Luijt, Rob B.; Easton, Douglas F.; Peock, Susan; Frost, Debra; Ellis, Steve D.; Platte, Radka; Fineberg, Elena; Evans, D. Gareth; Lalloo, Fiona; Izatt, Louise; Eeles, Ros; Adlard, Julian; Davidson, Rosemarie; Eccles, Diana; Cole, Trevor; Cook, Jackie; Brewer, Carole; Tischkowitz, Marc; Godwin, Andrew K.; Pathak, Harsh; Stoppa-Lyonnet, Dominique; Sinilnikova, Olga M.; Mazoyer, Sylvie; Barjhoux, Laure; Léoné, Mélanie; Gauthier-Villars, Marion; Caux-Moncoutier, Virginie; de Pauw, Antoine; Hardouin, Agnès; Berthet, Pascaline; Dreyfus, Hélène; Ferrer, Sandra Fert; Collonge-Rame, Marie-Agnès; Sokolowska, Johanna; Buys, Saundra; Daly, Mary; Miron, Alex; Terry, Mary Beth; Chung, Wendy; John, Esther M; Southey, Melissa; Goldgar, David; Singer, Christian F; Maria, Muy-Kheng Tea; Gschwantler-Kaulich, Daphne; Fink-Retter, Anneliese; Hansen, Thomas v. O.; Ejlertsen, Bent; Johannsson, Oskar Th.; Offit, Kenneth; Sarrel, Kara; Gaudet, Mia M.; Vijai, Joseph; Robson, Mark; Piedmonte, Marion R; Andrews, Lesley; Cohn, David; DeMars, Leslie R.; DiSilvestro, Paul; Rodriguez, Gustavo; Toland, Amanda Ewart; Montagna, Marco; Agata, Simona; Imyanitov, Evgeny; Isaacs, Claudine; Janavicius, Ramunas; Lazaro, Conxi; Blanco, Ignacio; Ramus, Susan J; Sucheston, Lara; Karlan, Beth Y.; Gross, Jenny; Ganz, Patricia A.; Beattie, Mary S.; Schmutzler, Rita K.; Wappenschmidt, Barbara; Meindl, Alfons; Arnold, Norbert; Niederacher, Dieter; Preisler-Adams, Sabine; Gadzicki, Dorotehea; Varon-Mateeva, Raymonda; Deissler, Helmut; Gehrig, Andrea; Sutter, Christian; Kast, Karin; Nevanlinna, Heli; Aittomäki, Kristiina; Simard, Jacques; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xiaoqing; Tomlinson, Gail E.; Weitzel, Jeffrey; Garber, Judy E.; Olopade, Olufunmilayo I.; Rubinstein, Wendy S.; Tung, Nadine; Blum, Joanne L.; Narod, Steven A.; Brummel, Sean; Gillen, Daniel L.; Lindor, Noralane; Fredericksen, Zachary; Pankratz, Vernon S.; Couch, Fergus J.; Radice, Paolo; Peterlongo, Paolo; Greene, Mark H.; Loud, Jennifer T.; Mai, Phuong L.; Andrulis, Irene L.; Glendon, Gord; Ozcelik, Hilmi; Gerdes, Anne-Marie; Thomassen, Mads; Jensen, Uffe Birk; Skytte, Anne-Bine; Caligo, Maria A.; Lee, Andrew; Chenevix-Trench, Georgia; Antoniou, Antonis C; Neuhausen, Susan L.

    2012-01-01

    Background We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. Methods IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers. Results Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 [Hazard ratio (HR) = 1.43; 95% CI: 1.06–1.92; p = 0.019] and BRCA2 mutation carriers (HR=2.21; 95% CI: 1.39–3.52, p=0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class 2 mutations than class 1 (mutations (class 2 HR=1.86, 95% CI: 1.28–2.70; class 1 HR=0.86, 95%CI:0.69–1.09; p-for difference=0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class 2 mutation carriers (HR = 2.42; p = 0.03). Conclusion The IRS1 Gly972Arg SNP, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class 2 mutation carriers. Impact These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers. PMID:22729394

  1. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

    Directory of Open Access Journals (Sweden)

    Elena Vigorito

    Full Text Available Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases BRCA1 and 8,211 (631 ovarian cancer cases BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10-16. These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10-6. The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.

  2. Identification of circulating microRNAs in HNF1A-MODY carriers.

    Science.gov (United States)

    Bonner, C; Nyhan, K C; Bacon, S; Kyithar, M P; Schmid, J; Concannon, C G; Bray, I M; Stallings, R L; Prehn, J H M; Byrne, M M

    2013-08-01

    HNF1A-MODY is a monogenic form of diabetes caused by mutations in the HNF1A gene. Here we identify, for the first time, HNF1A-MODY-associated microRNAs (miRNAs) that can be detected in the serum of HNF1A-MODY carriers. An miRNA array was carried out in rat INS-1 insulinoma cells inducibly expressing the common human Pro291fsinsC-HNF1A frame shift mutation. Differentially expressed miRNAs were validated by quantitative real-time PCR. Expression of miRNAs in the serum of HNF1A-MODY carriers (n = 31), MODY-negative family members (n = 10) and individuals with type 2 diabetes mellitus (n = 17) was quantified by absolute real-time PCR analysis. Inducible expression of Pro291fsinsC-HNF1A in INS-1 cells caused a significant upregulation of three miRNAs (miR-103, miR-224, miR-292-3p). The differential expression of two miRNAs (miR-103 and miR-224) was validated in vitro. Strongly elevated levels of miR-103 and miR-224 could be detected in the serum of HNF1A-MODY carriers compared with MODY-negative family controls. Serum levels of miR-103 distinguished HNF1A-MODY carriers from HbA1c-matched individuals with type 2 diabetes mellitus. Our study demonstrates that the pathophysiology of HNF1A-MODY is associated with the overexpression of miR-103 and miR-224. Furthermore, our study demonstrates that these miRNAs can be readily detected in the serum of HNF1A-MODY carriers.

  3. Cefotaxime-heparin lock prophylaxis against hemodialysis catheter-related sepsis among Staphylococcus aureus nasal carriers

    Directory of Open Access Journals (Sweden)

    Anil K Saxena

    2012-01-01

    Full Text Available Staphylococcus aureus nasal carriers undergoing hemodialysis (HD through tunneled cuffed catheters (TCCs form a high-risk group for the development of catheter-related bloodstream infections (CRBSI and ensuing morbidity. The efficacy of antibiotic-locks on the outcomes of TCCs among S. aureus nasal carriers has not been studied earlier. Persistent nasal carriage was defined by two or more positive cultures for methicillin-susceptible (MSSA or methicillin-resistant (MRSA S. aureus of five standardized nasal swabs taken from all the participants dialyzed at a large out-patient HD center affiliated to a tertiary care hospital. Of 218 participants, 82 S. aureus nasal carriers dialyzed through TCCs (n = 88 were identified through April 2005 to March 2006 and randomized to two groups. Group I comprised of 39 nasal carriers who had TCCs (n = 41 "locked" with cefotaxime/heparin while group II included 43 patients with TCCs (n = 47 filled with standard heparin. The CRBSI incidence and TCC survival at 365 days were statistically compared between the two groups. A significantly lower CRBSI incidence (1.47 vs. 3.44/1000 catheter-days, P <0.001 and higher infection-free TCC survival rates at 365 days (80.5 vs. 40.4%, P <0.0001 were observed in the cefotaxime group compared with the stan-dard heparin group. However, no significant difference in MRSA-associated CRBSI incidence was observed between the two groups. Cefotaxime-heparin "locks" effectively reduced CRBSI-incidence associated with gram-positive cocci, including MSSA, among S. aureus nasal carriers. There remains a compelling requirement for antibiotic-locks effective against MRSA.

  4. Do BRCA1/2 mutation carriers have an earlier onset of natural menopause?

    Science.gov (United States)

    van Tilborg, Theodora C; Broekmans, Frank J; Pijpe, Anouk; Schrijver, Lieske H; Mooij, Thea M; Oosterwijk, Jan C; Verhoef, Senno; Gómez Garcia, Encarna B; van Zelst-Stams, Wendy A; Adank, Muriel A; van Asperen, Christi J; van Doorn, Helena C; van Os, Theo A; Bos, Anna M; Rookus, Matti A; Ausems, Margreet G

    2016-08-01

    It has been hypothesized that BRCA1/2 mutation carriers have an earlier age at natural menopause (ANM), although to date findings are inconclusive. This study assessed the influence of BRCA mutation status on ANM, and aimed to explore the reasons of inconsistency in the literature. Cross-sectional assessment from an ongoing nationwide cohort study among members of BRCA1/2 mutated families. Information was obtained by a standardized questionnaire. Kaplan-Meier curves were constructed, and Cox regression was used to assess the association between BRCA1/2 mutation status and ANM. Adjustments were made for birth cohort, family, smoking, use of hormonal contraceptives, and parity. A total of 1,208 BRCA1/2 mutation carriers and 2,211 proven noncarriers were included. Overall, no association was found between BRCA1/2 mutation status and ANM (adjusted hazard ratio [HR] = 1.06 [95% CI, 0.87-1.30]). We examined if the null finding was due to informative censoring by uptake of risk-reducing salpingo-oophorectomy. Indeed, within the oldest birth cohort, in which the percentage of surgical menopause events was lowest and comparable between carriers and noncarriers, the HR for earlier natural menopause in carriers was 1.45 (95% CI, 1.09-1.94). The second oldest birth cohort, however, demonstrated a decreased HR (0.67 [95% CI, 0.46-0.98]), and thus no trend over birth cohorts was found. Various types of selection bias hamper the comparison of ANM between BRCA1/2 mutation carriers and noncarriers, genetically tested in the clinic.

  5. Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

    DEFF Research Database (Denmark)

    Kuchenbaecker, Karoline B; McGuffog, Lesley; Barrowdale, Daniel

    2017-01-01

    Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic ...... risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management....

  6. Enhanced bioremediation of PAH-contaminated soil by immobilized bacteria with plant residue and biochar as carriers

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Baoliang; Yuan, Miaoxin; Qian, Linbo [Zhejiang Univ., Hangzhou (China). Dept. of Environmental Science; Zhejiang Provincial Key Laboratory of Organic Pollution Process and Control, Hangzhou (China)

    2012-10-15

    Polycyclic aromatic hydrocarbons (PAHs) are largely accumulated in soils in China. The immobilized-microorganism technique (IMT) is a potential approach for abating soil contamination with PAHs. However, few studies about the application of IMT to contaminated soil remediation were reported. Due to recalcitrance to decomposition, biochar application to soil may enhance soil carbon sequestration, but few studies on the application of biochars to remediation of contaminated soil were reported. In this study, we illustrated enhanced bioremediation of soil having a long history of PAH contamination by IMT using plant residues and biochars as carriers. Two PAH-degrading bacteria, Pseudomonas putida and an unidentified indigenous bacterium, were selected for IMT. The extractability and biodegradation of 15 PAHs in solution and an actual PAH-contaminated soil amended with immobilized-bacteria materials were investigated under different incubation periods. The effects of carriers and the molecular weight of PAHs on bioremediation efficiency were determined to illustrate their different bio-dissipation mechanisms of PAHs in soil. The IMT can considerably enhance the removal of PAHs. Carriers impose different effects on PAH bio-dissipation by amended soil with immobilized-bacteria, which can directly degrade the carrier-associated PAHs. The removal of PAHs from soil depended on PAH molecular weight and carrier types. Enhanced bio-dissipation by IMT was much stronger for 4- and 5-ring PAHs than for 3- and 6-ring ones in soil. Only P400 biochar-immobilized bacteria enhanced bio-dissipation of all PAHs in contaminated soil after a 90-day incubation. Biochar can promote bioremediation of contaminated soil as microbial carriers of IMT. It is vital to select an appropriate biochar as an immobilized carrier to stimulate biodegradation. It is feasible to use adsorption carriers with high sorptive capabilities to concentrate PAHs as well as microorganisms and thereby enhance

  7. Importance of polaron effects for charge carrier mobility above and ...

    Indian Academy of Sciences (India)

    It is shown that the scattering of polaronic charge carriers and bosonic Cooper pairs at acoustic and optical phonons are responsible for the charge carrier mobility above and below the PG temperature. We show that the energy scales of the binding energies of large polarons and polaronic Cooper pairs can be identified by ...

  8. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, EM; van der Wouw, PA; Wilde, AAM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; van Essen, AJ; Leschot, NJ; de Visser, Marianne

    A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives: (1) to estimate the frequency of electrocardiographic (ECG) and echocardiographic abnormalities; (2) to establish the proportion of carriers

  9. Heat to electricity conversion by cold carrier emissive energy harvesters

    International Nuclear Information System (INIS)

    Strandberg, Rune

    2015-01-01

    This paper suggests a method to convert heat to electricity by the use of devices called cold carrier emissive energy harvesters (cold carrier EEHs). The working principle of such converters is explained and theoretical power densities and efficiencies are calculated for ideal devices. Cold carrier EEHs are based on the same device structure as hot carrier solar cells, but works in an opposite way. Whereas a hot carrier solar cell receives net radiation from the sun and converts some of this radiative heat flow into electricity, a cold carrier EEH sustains a net outflux of radiation to the surroundings while converting some of the energy supplied to it into electricity. It is shown that the most basic type of cold carrier EEHs have the same theoretical efficiency as the ideal emissive energy harvesters described earlier by Byrnes et al. In the present work, it is also shown that if the emission from the cold carrier EEH originates from electron transitions across an energy gap where a difference in the chemical potential of the electrons above and below the energy gap is sustained, power densities slightly higher than those given by Byrnes et al. can be achieved

  10. 77 FR 67584 - Air Carrier Contract Maintenance Requirements

    Science.gov (United States)

    2012-11-13

    ... many, including air carriers lowering costs by employing fewer maintenance personnel and reducing their... make accurate risk assessments. B. History In May 1996, employees of SabreTech, a contract maintenance...-certificated repair facilities, and the air carriers' outsourcing of maintenance. In each of those reports...

  11. Characterization of the "Escherichia Coli" Acyl Carrier Protein Phosphodiesterase

    Science.gov (United States)

    Thomas, Jacob

    2009-01-01

    Acyl carrier protein (ACP) is a small essential protein that functions as a carrier of the acyl intermediates of fatty acid synthesis. ACP requires the posttranslational attachment of a 4'phosphopantetheine functional group, derived from CoA, in order to perform its metabolic function. A Mn[superscript 2+] dependent enzymatic activity that removes…

  12. Performance-based standards for South African car-carriers

    CSIR Research Space (South Africa)

    De Saxe, C

    2012-12-01

    Full Text Available Until recently, car-carriers in South Africa operated under abnormal load permits allowing a finite relaxation of legal height and length limits. This practice is being phased out, and exemption will only be granted if a car-carrier complies...

  13. Investigation of carrier oil stabilized iron oxide nanoparticles and its ...

    African Journals Online (AJOL)

    Iron oxide nanoparticles were synthesized by co-precipitation method. The polyunsaturated carrier oil (flaxseed oil) is used as a stabilizing agent for iron oxide nanoparticles. Kirby Bauer method was used to investigate the antibiotic sensitivity of carrier oil stabilized and uncoated SPIONs at 10 and 20 μg/L on Gram-positive ...

  14. Carriers of foot-and-mouth disease virus: a review

    NARCIS (Netherlands)

    Moonen, P.; Schrijver, R.

    2000-01-01

    This review describes current knowledge about persistent foot-and-mouth disease virus (FMDV) infections, the available methods to detect carrier animals, the properties of persisting virus, the immunological mechanisms, and the risk of transmission. In particular, knowledge about the carrier state,

  15. Joint Iterative Carrier Synchronization and Signal Detection Employing Expectation Maximization

    DEFF Research Database (Denmark)

    Zibar, Darko; de Carvalho, Luis Henrique Hecker; Estaran Tolosa, Jose Manuel

    2014-01-01

    and nonlinear phase noise, compared to digital phase-locked loop (PLL) followed by hard decisions. Additionally, soft decision driven joint carrier synchronization and detection offers an improvement of 0.5 dB in terms of input power compared to hard decision digital PLL based carrier synchronization...

  16. Screening in crystalline liquids protects energetic carriers in hybrid perovskites

    Science.gov (United States)

    Zhu, Haiming; Miyata, Kiyoshi; Fu, Yongping; Wang, Jue; Joshi, Prakriti; Niesner, Daniel; Williams, Kristopher; Jin, Song; Zhu, Xiaoyang

    Hybrid lead halide perovskites exhibit carrier properties that resemble those of pristine nonpolar semiconductors despite static and dynamic disorder, but how carriers are protected from efficient scattering with charged defects and optical phonons is unknown. Here, we reveal the carrier protection mechanism by comparing three single-crystal lead bromide perovskites: CH3NH3PbBr3, CH(NH2)2PbBr3, and CsPbBr3. We observed hot fluorescence emission from energetic carriers with 102 picosecond lifetimes in CH3NH3PbBr3 or CH(NH,SUB>2)2PbBr3, but not in CsPbBr3. The hot fluorescence is correlated with liquid-like molecular reorientational motions, suggesting that dynamic screening protects energetic carriers via solvation or large polaron formation on time scales competitive with that of ultrafast cooling. Similar protections likely exist for band-edge carriers. The long-lived energetic carriers may enable hot-carrier solar cells with efficiencies exceeding the Shockley-Queisser limit. This work was supported by U.S. Department of Energy Grant ER46980, National Science Foundation, Grant DMR 1420634 (MRSEC), and Department of Energy Award DE-FG02-09ER46664.

  17. Carrier screening in the era of expanding genetic technology.

    Science.gov (United States)

    Arjunan, Aishwarya; Litwack, Karen; Collins, Nick; Charrow, Joel

    2016-12-01

    The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population. Peripheral blood samples or saliva samples were obtained from 506 individuals. All samples were analyzed by sequencing, targeted genotyping, triplet-repeat detection, and copy-number analysis; the analyses were carried out at Counsyl. Of 506 individuals screened, 288 were identified as carriers of at least 1 condition and 8 couples were carriers for the same disorder. A total of 434 pathogenic variants were identified. Three hundred twelve variants would have been detected via genotyping alone. Although no additional mutations were detected by NGS in diseases routinely screened for in the Ashkenazi Jewish population, 26.5% of carrier results and 2 carrier couples would have been missed without NGS in the larger panel. In a primarily Jewish population, NGS reveals a larger number of pathogenic variants and provides individuals with valuable information for family planning.Genet Med 18 12, 1214-1217.

  18. Tracking Ultrafast Carrier Dynamics in Single Semiconductor Nanowire Heterostructures

    Directory of Open Access Journals (Sweden)

    Taylor A.J.

    2013-03-01

    Full Text Available An understanding of non-equilibrium carrier dynamics in silicon (Si nanowires (NWs and NW heterostructures is very important due to their many nanophotonic and nanoelectronics applications. Here, we describe the first measurements of ultrafast carrier dynamics and diffusion in single heterostructured Si nanowires, obtained using ultrafast optical microscopy. By isolating individual nanowires, we avoid complications resulting from the broad size and alignment distribution in nanowire ensembles, allowing us to directly probe ultrafast carrier dynamics in these quasi-one-dimensional systems. Spatially-resolved pump-probe spectroscopy demonstrates the influence of surface-mediated mechanisms on carrier dynamics in a single NW, while polarization-resolved femtosecond pump-probe spectroscopy reveals a clear anisotropy in carrier lifetimes measured parallel and perpendicular to the NW axis, due to density-dependent Auger recombination. Furthermore, separating the pump and probe spots along the NW axis enabled us to track space and time dependent carrier diffusion in radial and axial NW heterostructures. These results enable us to reveal the influence of radial and axial interfaces on carrier dynamics and charge transport in these quasi-one-dimensional nanosystems, which can then be used to tailor carrier relaxation in a single nanowire heterostructure for a given application.

  19. Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands.

    Science.gov (United States)

    Vos, Janet R; Teixeira, Natalia; van der Kolk, Dorina M; Mourits, Marian J E; Rookus, Matti A; van Leeuwen, Flora E; Collée, Margriet; van Asperen, Christi J; Mensenkamp, Arjen R; Ausems, Margreet G E M; van Os, Theo A M; Meijers-Heijboer, Hanne E J; Gómez-Garcia, Encarna B; Vasen, Hans F; Brohet, Richard M; van der Hout, Annemarie H; Jansen, Liesbeth; Oosterwijk, Jan C; de Bock, Geertruida H

    2014-11-01

    We aimed to quantify previously observed relatively high cancer risks in BRCA2 mutation carriers (BRCA2 carriers) older than 60 in the Northern Netherlands, and to analyze whether these could be explained by mutation spectrum or population background risk. This consecutive cohort study included all known pathogenic BRCA1/2 carriers in the Northern Netherlands (N = 1,050). Carrier and general reference populations were: BRCA1/2 carriers in the rest of the Netherlands (N = 2,013) and the general population in both regions. Regional differences were assessed with HRs and ORs. HRs were adjusted for birth year and mutation spectrum. All BRCA1 carriers and BRCA2 carriers younger than 60 had a significantly lower breast cancer risk in the Northern Netherlands; HRs were 0.66 and 0.64, respectively. Above age 60, the breast cancer risk in BRCA2 carriers in the Northern Netherlands was higher than in the rest of the Netherlands [HR, 3.99; 95% confidence interval (CI), 1.11-14.35]. Adjustment for mutational spectrum changed the HRs for BRCA1, BRCA2 <60, and BRCA2 ≥60 years by -3%, +32%, and +11% to 0.75, 0.50, and 2.61, respectively. There was no difference in background breast cancer incidence between the two regions (OR, 1.03; 95% CI, 0.97-1.09). Differences in mutation spectrum only partly explain the regional differences in breast cancer risk in BRCA2 carriers, and for an even smaller part in BRCA1 carriers. The increased risk in BRCA2 carriers older than 60 may warrant extension of intensive breast screening beyond age 60. ©2014 American Association for Cancer Research.

  20. Cellulose nanocrystals (CNC) as carriers for a spirooxazine dye and its effect on photochromic efficiency.

    Science.gov (United States)

    Sun, Bo; Hou, Qingxi; He, Zhibin; Liu, Zehua; Ni, Yonghao

    2014-10-13

    Nanocrystalline cellulose (CNC) as a renewable/sustainable material, has received much attention. Herein we studied CNC as carriers for a hydrophobic spirooxazine (SO)-based dye, 1,3-dihydro-1,3,3-trimethylspiro[2H-indole-2,3'-[3H]naphtha[2,1-b][1,4]oxazine], which may have potential applications in reversible memory photo-devices, textiles, photo-sensitive paper coatings, and inkjet printing inks. Due to the high cost and water-insolubility of this dye, it is desirable to improve its coloration efficiency and water-dispersibility. The experimental approach was to use CNC as carriers for the SO dye, thus obtaining a stable photochromic dye in aqueous systems. Transmission electron microscope (TEM) observation confirmed that the SO dye adsorbed on the surface of the CNC, which functioned as carriers for the photochromic dye. An impregnation process was adopted to anchor the dye onto cellulosic paper. It was found that the use of CNC resulted in a significant improvement in the SO coloration efficiency. The color stability and fatigue resistance were also studied. The use of CNC as carriers for a hydrophobic compound, its enhancement of associated properties, and its subsequent application were demonstrated. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Kinetics of photo-activated charge carriers in Sn:CdS

    Energy Technology Data Exchange (ETDEWEB)

    Patidar, Manju Mishra, E-mail: manjumishra.iuc@gmail.com; Gorli, V. R.; Gangrade, Mohan; Nath, R.; Ganesan, V. [UGC-DAE CSR, University Campus, Khandwa Road, Indore (M.P.)-452001 (India); Panda, Richa [S.S. Jain Subodh Girls College, Airport Road Sanganer, Jaipur - 302029 (India)

    2016-05-23

    Kinetics of the photo-activated charge carriers has been investigated in Tin substituted Cadmium Sulphide, Cd{sub 1-x}Sn{sub x}S (x=0, 0.05, 0.10 and 0.15), thin films prepared by spray pyrolysis. X-Ray Diffraction shows an increase in strain that resulted in the decreased crystallite size upon Sn substitution. At the first sight, the photo current characteristics show a quenching effect on Sn substitution. However, survival of persistent photocurrents is seen even up to 15% of Sn substitution. Transient photo current decay could be explained with a 2τ relaxation model. CdS normally has an n-type character and the Sn doping expected to inject hole carriers. The two fold increase in τ{sub 1}, increase in activation energy and the decrease in photocurrents upon Sn substitution point towards a band gap cleaning scenario that include compensation and associated carrier injection dynamics. In addition Atomic Force Microscopy shows a drastic change in microstructure that modulates the carrier dynamics as a whole.

  2. Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

    Directory of Open Access Journals (Sweden)

    Kohei Fujikura

    Full Text Available Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but it is challenging to find reliable epidemiological values for rare disorders. Here, I provide a genetic epidemiology method to identify the causative mutations behind rare, inherited disorders using two population exome sequences (1000 Genomes and NHLBI. I created global maps of carrier rate distribution for 18 recessive disorders in 16 diverse ethnic populations. Out of a total of 161 mutations associated with 18 recessive disorders, I detected 24 mutations in either or both exome studies. The genetic mapping revealed strong international spatial heterogeneities in the carrier patterns of the inherited disorders. I next validated this methodology by statistically evaluating the carrier rate of one well-understood disorder, sickle cell anemia (SCA. The population exome-based epidemiology of SCA [African (allele frequency (AF = 0.0454, N = 2447, Asian (AF = 0, N = 286, European (AF = 0.000214, N = 4677, and Hispanic (AF = 0.0111, N = 362] was not significantly different from that obtained from a clinical prevalence survey. A pair-wise proportion test revealed no significant differences between the two exome projects in terms of AF (46/48 cases; P > 0.05. I conclude that population exome-based carrier rates can form the foundation for a prospectively maintained database of use to clinical geneticists. Similar modeling methods can be applied to many inherited disorders.

  3. Imaging ballistic carrier trajectories in graphene using scanning gate microscopy

    Energy Technology Data Exchange (ETDEWEB)

    Morikawa, Sei; Masubuchi, Satoru [Institute of Industrial Science, University of Tokyo, 4-6-1 Komaba, Meguro, Tokyo 153-8505 (Japan); Dou, Ziwei; Wang, Shu-Wei; Smith, Charles G.; Connolly, Malcolm R., E-mail: mrc61@cam.ac.uk [Cavendish Laboratory, Department of Physics, University of Cambridge, Cambridge CB3 0HE (United Kingdom); Watanabe, Kenji; Taniguchi, Takashi [National Institute for Materials Science, 1-1 Namiki, Tsukuba 305-0044 (Japan); Machida, Tomoki, E-mail: tmachida@iis.u-tokyo.ac.jp [Institute of Industrial Science, University of Tokyo, 4-6-1 Komaba, Meguro, Tokyo 153-8505 (Japan); Institute for Nano Quantum Information Electronics, University of Tokyo, 4-6-1 Komaba, Meguro, Tokyo 153-8505 (Japan)

    2015-12-14

    We use scanning gate microscopy to map out the trajectories of ballistic carriers in high-mobility graphene encapsulated by hexagonal boron nitride and subject to a weak magnetic field. We employ a magnetic focusing geometry to image carriers that emerge ballistically from an injector, follow a cyclotron path due to the Lorentz force from an applied magnetic field, and land on an adjacent collector probe. The local electric field generated by the scanning tip in the vicinity of the carriers deflects their trajectories, modifying the proportion of carriers focused into the collector. By measuring the voltage at the collector while scanning the tip, we are able to obtain images with arcs that are consistent with the expected cyclotron motion. We also demonstrate that the tip can be used to redirect misaligned carriers back to the collector.

  4. [Attachment theory and baby slings/carriers: technological network formation].

    Science.gov (United States)

    Lu, Zxy-Yann Jane; Lin, Wan-Shiuan

    2011-12-01

    Healthcare providers recognize the important role played by attachment theory in explaining the close relationship between mental health and social behavior in mothers and their children. This paper uses attachment theory in a socio-cultural context to ascertain the mechanism by which baby slings/carriers, a new technology, produced and reproduced the scientific motherhood. It further applies a social history of technology perspective to understand how baby carriers and attachment theory are socially constructed and historically contingent on three major transformations. These transformations include the use of attachment theory-based baby carriers to further scientific motherhood; the use of baby slings/carriers to further the medicalization of breastfeeding and enhance mother-infant attachment; and the use of baby slings/carriers to transform woman's identities by integrating scientific motherhood, independence and fashion. Implications for nursing clinical policy are suggested.

  5. Charge carrier coherence and Hall effect in organic semiconductors

    Science.gov (United States)

    Yi, H. T.; Gartstein, Y. N.; Podzorov, V.

    2016-01-01

    Hall effect measurements are important for elucidating the fundamental charge transport mechanisms and intrinsic mobility in organic semiconductors. However, Hall effect studies frequently reveal an unconventional behavior that cannot be readily explained with the simple band-semiconductor Hall effect model. Here, we develop an analytical model of Hall effect in organic field-effect transistors in a regime of coexisting band and hopping carriers. The model, which is supported by the experiments, is based on a partial Hall voltage compensation effect, occurring because hopping carriers respond to the transverse Hall electric field and drift in the direction opposite to the Lorentz force acting on band carriers. We show that this can lead in particular to an underdeveloped Hall effect observed in organic semiconductors with substantial off-diagonal thermal disorder. Our model captures the main features of Hall effect in a variety of organic semiconductors and provides an analytical description of Hall mobility, carrier density and carrier coherence factor. PMID:27025354

  6. Nonequilibrium carrier dynamics in transition metal dichalcogenide semiconductors

    Science.gov (United States)

    Steinhoff, A.; Florian, M.; Rösner, M.; Lorke, M.; Wehling, T. O.; Gies, C.; Jahnke, F.

    2016-09-01

    When exploring new materials for their potential in (opto)electronic device applications, it is important to understand the role of various carrier interaction and scattering processes. In atomically thin transition metal dichalcogenide semiconductors, the Coulomb interaction is known to be much stronger than in quantum wells of conventional semiconductors like GaAs, as witnessed by the 50 times larger exciton binding energy. The question arises, whether this directly translates into equivalently faster carrier-carrier Coulomb scattering of excited carriers. Here we show that a combination of ab initio band-structure and many-body theory predicts Coulomb-mediated carrier relaxation on a sub-100 fs time scale for a wide range of excitation densities, which is less than an order of magnitude faster than in quantum wells.

  7. Charge carrier coherence and Hall effect in organic semiconductors.

    Science.gov (United States)

    Yi, H T; Gartstein, Y N; Podzorov, V

    2016-03-30

    Hall effect measurements are important for elucidating the fundamental charge transport mechanisms and intrinsic mobility in organic semiconductors. However, Hall effect studies frequently reveal an unconventional behavior that cannot be readily explained with the simple band-semiconductor Hall effect model. Here, we develop an analytical model of Hall effect in organic field-effect transistors in a regime of coexisting band and hopping carriers. The model, which is supported by the experiments, is based on a partial Hall voltage compensation effect, occurring because hopping carriers respond to the transverse Hall electric field and drift in the direction opposite to the Lorentz force acting on band carriers. We show that this can lead in particular to an underdeveloped Hall effect observed in organic semiconductors with substantial off-diagonal thermal disorder. Our model captures the main features of Hall effect in a variety of organic semiconductors and provides an analytical description of Hall mobility, carrier density and carrier coherence factor.

  8. Anisotropic charged impurity-limited carrier mobility in monolayer phosphorene

    International Nuclear Information System (INIS)

    Ong, Zhun-Yong; Zhang, Gang; Zhang, Yong Wei

    2014-01-01

    The room temperature carrier mobility in atomically thin 2D materials is usually far below the intrinsic limit imposed by phonon scattering as a result of scattering by remote charged impurities in its environment. We simulate the charged impurity-limited carrier mobility μ in bare and encapsulated monolayer phosphorene. We find a significant temperature dependence in the carrier mobilities (μ ∝ T −γ ) that results from the temperature variability of the charge screening and varies with the crystal orientation. The anisotropy in the effective mass leads to an anisotropic carrier mobility, with the mobility in the armchair direction about one order of magnitude larger than in the zigzag direction. In particular, this mobility anisotropy is enhanced at low temperatures and high carrier densities. Under encapsulation with a high-κ overlayer, the mobility increases by up to an order of magnitude although its temperature dependence and its anisotropy are reduced

  9. Anisotropic charged impurity-limited carrier mobility in monolayer phosphorene

    Energy Technology Data Exchange (ETDEWEB)

    Ong, Zhun-Yong; Zhang, Gang; Zhang, Yong Wei [Institute of High Performance Computing, A*STAR, Singapore 138632 (Singapore)

    2014-12-07

    The room temperature carrier mobility in atomically thin 2D materials is usually far below the intrinsic limit imposed by phonon scattering as a result of scattering by remote charged impurities in its environment. We simulate the charged impurity-limited carrier mobility μ in bare and encapsulated monolayer phosphorene. We find a significant temperature dependence in the carrier mobilities (μ ∝ T{sup −γ}) that results from the temperature variability of the charge screening and varies with the crystal orientation. The anisotropy in the effective mass leads to an anisotropic carrier mobility, with the mobility in the armchair direction about one order of magnitude larger than in the zigzag direction. In particular, this mobility anisotropy is enhanced at low temperatures and high carrier densities. Under encapsulation with a high-κ overlayer, the mobility increases by up to an order of magnitude although its temperature dependence and its anisotropy are reduced.

  10. Carrier-Based Drug Delivery System for Treatment of Acne

    Science.gov (United States)

    Vyas, Amber; Kumar Sonker, Avinesh

    2014-01-01

    Approximately 95% of the population suffers at some point in their lifetime from acne vulgaris. Acne is a multifactorial disease of the pilosebaceous unit. This inflammatory skin disorder is most common in adolescents but also affects neonates, prepubescent children, and adults. Topical conventional systems are associated with various side effects. Novel drug delivery systems have been used to reduce the side effect of drugs commonly used in the topical treatment of acne. Topical treatment of acne with active pharmaceutical ingredients (API) makes direct contact with the target site before entering the systemic circulation which reduces the systemic side effect of the parenteral or oral administration of drug. The objective of the present review is to discuss the conventional delivery systems available for acne, their drawbacks, and limitations. The advantages, disadvantages, and outcome of using various carrier-based delivery systems like liposomes, niosomes, solid lipid nanoparticles, and so forth, are explained. This paper emphasizes approaches to overcome the drawbacks and limitations associated with the conventional system and the advances and application that are poised to further enhance the efficacy of topical acne formulations, offering the possibility of simplified dosing regimen that may improve treatment outcomes using novel delivery system. PMID:24688376

  11. Histidine-lysine peptides as carriers of nucleic acids.

    Science.gov (United States)

    Leng, Qixin; Goldgeier, Lisa; Zhu, Jingsong; Cambell, Patricia; Ambulos, Nicholas; Mixson, A James

    2007-03-01

    With their biodegradability and diversity of permutations, peptides have significant potential as carriers of nucleic acids. This review will focus on the sequence and branching patterns of peptide carriers composed primarily of histidines and lysines. While lysines within peptides are important for binding to the negatively charged phosphates, histidines are critical for endosomal lysis enabling nucleic acids to reach the cytosol. Histidine-lysine (HK) polymers by either covalent or ionic bonds with liposomes augment transfection compared to liposome carriers alone. More recently, we have examined peptides as sole carriers of nucleic acids because of their intrinsic advantages compared to the bipartite HK/liposome carriers. With a protocol change and addition of a histidine-rich tail, HK peptides as sole carriers were more effective than liposomes alone in several cell lines. While four-branched polymers with a primary repeating sequence pattern of -HHK- were more effective as carriers of plasmids, eight-branched polymers with a sequence pattern of -HHHK- were more effective as carriers of siRNA. Compared to polyethylenimine, HK carriers of siRNA and plasmids had reduced toxicity. When injected intravenously, HK polymers in complex with plasmids encoding antiangiogenic proteins significantly decreased tumor growth. Furthermore, modification of HK polymers with polyethylene glycol and vascular-specific ligands increased specificity of the polyplex to the tumor by more than 40-fold. Together with further development and insight on the structure of HK polyplexes, HK peptides may prove to be useful as carriers of different forms of nucleic acids both in vitro and in vivo.

  12. Dominant role of many-body effects on the carrier distribution function of quantum dot lasers

    Science.gov (United States)

    Peyvast, Negin; Zhou, Kejia; Hogg, Richard A.; Childs, David T. D.

    2016-03-01

    The effects of free-carrier-induced shift and broadening on the carrier distribution function are studied considering different extreme cases for carrier statistics (Fermi-Dirac and random carrier distributions) as well as quantum dot (QD) ensemble inhomogeneity and state separation using a Monte Carlo model. Using this model, we show that the dominant factor determining the carrier distribution function is the free carrier effects and not the choice of carrier statistics. By using empirical values of the free-carrier-induced shift and broadening, good agreement is obtained with experimental data of QD materials obtained under electrical injection for both extreme cases of carrier statistics.

  13. Efficient carrier relaxation and fast carrier recombination of N-polar InGaN/GaN light emitting diodes

    International Nuclear Information System (INIS)

    Feng, Shih-Wei; Liao, Po-Hsun; Leung, Benjamin; Han, Jung; Yang, Fann-Wei; Wang, Hsiang-Chen

    2015-01-01

    Based on quantum efficiency and time-resolved electroluminescence measurements, the effects of carrier localization and quantum-confined Stark effect (QCSE) on carrier transport and recombination dynamics of Ga- and N-polar InGaN/GaN light-emitting diodes (LEDs) are reported. The N-polar LED exhibits shorter ns-scale response, rising, delay, and recombination times than the Ga-polar one does. Stronger carrier localization and the combined effects of suppressed QCSE and electric field and lower potential barrier acting upon the forward bias in an N-polar LED provide the advantages of more efficient carrier relaxation and faster carrier recombination. By optimizing growth conditions to enhance the radiative recombination, the advantages of more efficient carrier relaxation and faster carrier recombination in a competitive performance N-polar LED can be realized for applications of high-speed flash LEDs. The research results provide important information for carrier transport and recombination dynamics of an N-polar InGaN/GaN LED

  14. Relaxation of a kinetic hole due to carrier-carrier scattering in multisubband single-quantum-well semiconductors

    DEFF Research Database (Denmark)

    Dery, H.; Tromborg, Bjarne; Eisenstein, G.

    2003-01-01

    We describe a theoretical model for carrier-carrier scattering in an inverted semiconductor quantum well structure using a multisubband diagram. The model includes all possible nonvanishing interaction terms within the static screening approximation, and it enables one to calculate accurately...

  15. Efficient carrier relaxation and fast carrier recombination of N-polar InGaN/GaN light emitting diodes

    Energy Technology Data Exchange (ETDEWEB)

    Feng, Shih-Wei, E-mail: swfeng@nuk.edu.tw; Liao, Po-Hsun [Department of Applied Physics, National University of Kaohsiung, No. 700, Kaohsiung University Rd., Nan Tzu Dist., 811 Kaohsiung, Taiwan (China); Leung, Benjamin; Han, Jung [Department of Electrical Engineering, Yale University, New Haven, Connecticut 06520 (United States); Yang, Fann-Wei [Department of Electronic Engineering, Southern Taiwan University of Science and Technology, Tainan, Taiwan (China); Wang, Hsiang-Chen [Graduate Institute of Opto-Mechatronics and Advanced Institute of Manufacturing with High-Tech Innovations (AIM-HI), National Chung Cheng University, Chia-Yi, Taiwan (China)

    2015-07-28

    Based on quantum efficiency and time-resolved electroluminescence measurements, the effects of carrier localization and quantum-confined Stark effect (QCSE) on carrier transport and recombination dynamics of Ga- and N-polar InGaN/GaN light-emitting diodes (LEDs) are reported. The N-polar LED exhibits shorter ns-scale response, rising, delay, and recombination times than the Ga-polar one does. Stronger carrier localization and the combined effects of suppressed QCSE and electric field and lower potential barrier acting upon the forward bias in an N-polar LED provide the advantages of more efficient carrier relaxation and faster carrier recombination. By optimizing growth conditions to enhance the radiative recombination, the advantages of more efficient carrier relaxation and faster carrier recombination in a competitive performance N-polar LED can be realized for applications of high-speed flash LEDs. The research results provide important information for carrier transport and recombination dynamics of an N-polar InGaN/GaN LED.

  16. Genaesthics : Breast Surgery in BRCA1/2 Gene Mutation Carriers

    OpenAIRE

    Verschuer, Victorien

    2017-01-01

    markdownabstractThe present thesis focuses on breast surgery in BRCA1/2 gene mutation carriers. The topics that are studied vary broadly, representing the multiple disciplines that are involved in the diagnostic work-up and treatment of BRCA1/2-associated breast cancer. The first part contains studies on molecular and prognostic tumor characteristics in breast cancer. The thesis continues with an anatomical study on safety of prophylactic mastectomy, and finishes with studies on aesthetics an...

  17. Cyclodextrin-based nanosponges as drug carriers

    Directory of Open Access Journals (Sweden)

    Francesco Trotta

    2012-11-01

    Full Text Available Cyclodextrin-based nanosponges, which are proposed as a new nanosized delivery system, are innovative cross-linked cyclodextrin polymers nanostructured within a three-dimensional network. This type of cyclodextrin polymer can form porous insoluble nanoparticles with a crystalline or amorphous structure and spherical shape or swelling properties. The polarity and dimension of the polymer mesh can be easily tuned by varying the type of cross-linker and degree of cross-linking. Nanosponge functionalisation for site-specific targeting can be achieved by conjugating various ligands on their surface. They are a safe and biodegradable material with negligible toxicity on cell cultures and are well-tolerated after injection in mice. Cyclodextrin-based nanosponges can form complexes with different types of lipophilic or hydrophilic molecules. The release of the entrapped molecules can be varied by modifying the structure to achieve prolonged release kinetics or a faster release. The nanosponges could be used to improve the aqueous solubility of poorly water-soluble molecules, protect degradable substances, obtain sustained delivery systems or design innovative drug carriers for nanomedicine.

  18. POLYURETHANE COMPOSITES AS DRUG CARRIERS:: RELEASE PATTERNS

    Directory of Open Access Journals (Sweden)

    M. V. Grigoreva

    2013-10-01

    Full Text Available Biodegradable polyurethanes attract interest of those developing composite materials for biomedical applications. One of their features is their ability to serve as carriers, or matrixes, for medicines and other bioactive compounds to produce a therapeutic effect in body through targeted and/or prolonged delivery of these compounds in the process of their controlled release from matrix. The review presents polyurethane composites as matrices for a number of drugs. The relation between structure of the composites and their degradability both in vitro and in vivo and the dependence of drug release kinetics on physicochemical properties of polyurethane matrix are highlighted. The release of drugs (cefazolin, naltrexone and piroxicam from the composites based on cross-linked polyurethanes (synthesized from laprols, Mw between 1,500 and 2,000 Da and toluylene diisocyanate demonstrated more or less the same pattern (about 10 days in vitro and three to five days in vivo. In contrast, the composites with dioxydine based on a linear polyurethanes (synthesized from oligotetramethilene glycol, Mw 1,000 Da, diphenylmethane-4,4’-diisocyanate and 1,4-butanediol retained their antimicrobial activity at least 30 days. They also showed a significantly higher breaking strength as compared to that of the composites based on cross-linked polyurethanes.

  19. Electromigration of carrier-free radionuclides. 13

    International Nuclear Information System (INIS)

    Roesch, F.; Reimann, T.; Buglanov, G.V.; Milanov, M.; Khalkin, V.A.; Dreyer, R.

    1988-01-01

    Using a special type of on line electromigration measurements of γ-emitting radionuclides in homogeneous aqueous electrolytes free of supporting materials the electromigration behaviour of the carrier-free 241 Am-Am(III) in inert electrolytes, μ = 0.1 (ClO 4 - ), T = 298.1(1) K, was studied. Basing on experimental dependencies of the overall ion mobilities of 241 Am-Am(III) on pH between pH 5.5 and 12.9 the stoichiometric hydrolysis constants pβ 3 = 28.8(9) and pK 1 = 6.9(2) were obtained. For K 4 a limitation of pK 4 > 13.9(3) was possible, because no formation of anionic hydrolysis products in solutions pH 241 Am-Am(III) degrees in the range pH 5.5 - 3 from +6.85(15) up to +5.50(15) · 10 -4 cm 2 s -1 V -1 . Dependencies of this effect on overall ionic strength, inert electrolyte anion, and temperature of the electrolytes were studied in detail both in acidic and neutral solutions. (author)

  20. Test on digital transmission by carrier relay

    Energy Technology Data Exchange (ETDEWEB)

    Tahara, Taka; Yasuda, Katsuhiko

    1988-09-01

    Though the analog system was applied to the carrier relay system, together with the transmission route, owned/operated by Chugoku Electric Power, accompanying the digitalization of microwave wireless communication, the method to apply the existing analog system signal station unit, to the digital transmission route, came to be required to be discussed. In case of that application, it is feared for a false signal output to be made, with the impossibility of detecting the bit error, characteristic on the digital transmission route. Therefore, by using the microwave wireless communication between Mihara transformation station and Onomichi control station, a transmission test was made on a signal station of phase wave comparison system. As a result, it was known that the false signal output, produced at the detection width of 2ms at present, could be prevented by fixing the detection width to be 1 or 0.5ms and that the lock time ratio could not be maintained at the detection width of 0.5ms. It was further known that the detection width of 1ms only satisfied the condition, which could be secured by the modification only in timer of the bit error detection at signal station. 1 references, 6 figures, 4 tables.

  1. Drug Carrier for Photodynamic Cancer Therapy

    Directory of Open Access Journals (Sweden)

    Tilahun Ayane Debele

    2015-09-01

    Full Text Available Photodynamic therapy (PDT is a non-invasive combinatorial therapeutic modality using light, photosensitizer (PS, and oxygen used for the treatment of cancer and other diseases. When PSs in cells are exposed to specific wavelengths of light, they are transformed from the singlet ground state (S0 to an excited singlet state (S1–Sn, followed by intersystem crossing to an excited triplet state (T1. The energy transferred from T1 to biological substrates and molecular oxygen, via type I and II reactions, generates reactive oxygen species, (1O2, H2O2, O2*, HO*, which causes cellular damage that leads to tumor cell death through necrosis or apoptosis. The solubility, selectivity, and targeting of photosensitizers are important factors that must be considered in PDT. Nano-formulating PSs with organic and inorganic nanoparticles poses as potential strategy to satisfy the requirements of an ideal PDT system. In this review, we summarize several organic and inorganic PS carriers that have been studied to enhance the efficacy of photodynamic therapy against cancer.

  2. Gestational carrier in assisted reproductive technology.

    Science.gov (United States)

    Murugappan, Gayathree; Farland, Leslie V; Missmer, Stacey A; Correia, Katharine F; Anchan, Raymond M; Ginsburg, Elizabeth S

    2018-03-01

    To compare clinical outcomes of in vitro fertilization (IVF) cycles with the use of gestational carriers (GCs) with non-GC IVF cycles. Retrospective cohort study of assisted reproductive technology (ART) cycles performed with (24,269) and without (1,313,452) the use of a GC. ART centers. Infertile patients seeking IVF with or without use of a GC. Autologous and donor oocyte cycles, fresh and cryopreserved embryo transfer cycles. Live birth rate (LBR), twin and high-order multiple birth rates. Approximately 2% of embryo transfers used a GC. Per embryo transfer, GCs had greater pregnancy rate and LBR across all IVF types compared with non-GC cycles in crude models and models adjusted a priori for potential confounders. For women with uterine-factor infertility, embryo transfer with the use of a GC resulted in a higher odds of live birth for autologous fresh embryos and for cryopreserved embryos compared with patients with non-uterine-factor infertility diagnoses. GC benefits LBRs for some patients seeking ART. The highest LBRs occurred when the indication for GC was uterine-factor infertility. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  3. Hot carrier injection degradation under dynamic stress

    International Nuclear Information System (INIS)

    Ma Xiao-Hua; Cao Yan-Rong; Hao Yue; Zhang Yue

    2011-01-01

    In this paper, we have studied hot carrier injection (HCI) under alternant stress. Under different stress modes, different degradations are obtained from the experiment results. The different alternate stresses can reduce or enhance the HC effect, which mainly depends on the latter condition of the stress cycle. In the stress mode A (DC stress with electron injection), the degradation keeps increasing. In the stress modes B (DC stress and then stress with the smallest gate injection) and C (DC stress and then stress with hole injection under V g = 0 V and V d = 1.8 V), recovery appears in the second stress period. And in the stress mode D (DC stress and then stress with hole injection under V g = −1.8 V and V d = 1.8 V), as the traps filled in by holes can be smaller or greater than the generated interface states, the continued degradation or recovery in different stress periods can be obtained. (condensed matter: electronic structure, electrical, magnetic, and optical properties)

  4. Comparison of protocols and RNA carriers for plasma miRNA isolation. Unraveling RNA carrier influence on miRNA isolation

    Science.gov (United States)

    Martos, Laura; Fernández-Pardo, Álvaro; Oto, Julia; Medina, Pilar; España, Francisco; Navarro, Silvia

    2017-01-01

    microRNAs are promising biomarkers in biological fluids in several diseases. Different plasma RNA isolation protocols and carriers are available, but their efficiencies have been scarcely compared. Plasma microRNAs were isolated using a phenol and column-based procedure and a column-based procedure, in the presence or absence of two RNA carriers (yeast RNA and MS2 RNA). We evaluated the presence of PCR inhibitors and the relative abundance of certain microRNAs by qRT-PCR. Furthermore, we analyzed the association between different isolation protocols, the relative abundance of the miRNAs in the sample, the GC content and the free energy of microRNAs. In all microRNAs analyzed, the addition of yeast RNA as a carrier in the different isolation protocols used gave lower raw Cq values, indicating higher microRNA recovery. Moreover, this increase in microRNAs recovery was dependent on their own relative abundance in the sample, their GC content and the free-energy of their own most stable secondary structure. Furthermore, the normalization of microRNA levels by an endogenous microRNA is more reliable than the normalization by plasma volume, as it reduced the difference in microRNA fold abundance between the different isolation protocols evaluated. Our thorough study indicates that a standardization of pre- and analytical conditions is necessary to obtain reproducible inter-laboratory results in plasma microRNA studies. PMID:29077772

  5. Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

    Science.gov (United States)

    Stevens, Kristen N.; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon S.; Greene, Mark H.; Andrulis, Irene L.; Thomassen, Mads; Caligo, Maria; Nathanson, Katherine L.; Jakubowska, Anna; Osorio, Ana; Hamann, Ute; Godwin, Andrew K.; Stoppa-Lyonnet, Dominique; Southey, Melissa; Buys, Saundra S.; Singer, Christian F.; Hansen, Thomas V.O.; Arason, Adalgeir; Offit, Kenneth; Piedmonte, Marion; Montagna, Marco; Imyanitov, Evgeny; Tihomirova, Laima; Sucheston, Lara; Beattie, Mary; Neuhausen, Susan L.; Szabo, Csilla I.; Simard, Jacques; Spurdle, Amanda B.; Healey, Sue; Chen, Xiaoqing; Rebbeck, Timothy R.; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C; Couch, Fergus J.

    2012-01-01

    Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for BRCA1 and BRCA2 mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for BRCA2 mutation carriers [Hazard ratio (HR)=1.55, 95% CI 1.25–1.92, p=6.0×10−5]. This observation was based on data from GWAS studies in which, despite statistical correction for multiple comparisons, the possibility of false discovery remains a concern. Here we report on an analysis of this variant in an additional 6,165 BRCA1 and 3,900 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). In this replication analysis, rs9393597 was not associated with breast cancer risk for BRCA2 mutation carriers [HR=1.09, 95% CI 0.96–1.24, p=0.18]. No association with ovarian cancer risk for BRCA1 or BRCA2 mutation carriers or with breast cancer risk for BRCA1 mutation carriers was observed. This follow-up study suggests that, contrary to our initial report, this variant is not associated with breast cancer risk among individuals with germline BRCA2 mutations. PMID:23011509

  6. RANK ligand as a potential target for breast cancer prevention in BRCA1-mutation carriers.

    Science.gov (United States)

    Nolan, Emma; Vaillant, François; Branstetter, Daniel; Pal, Bhupinder; Giner, Göknur; Whitehead, Lachlan; Lok, Sheau W; Mann, Gregory B; Rohrbach, Kathy; Huang, Li-Ya; Soriano, Rosalia; Smyth, Gordon K; Dougall, William C; Visvader, Jane E; Lindeman, Geoffrey J

    2016-08-01

    Individuals who have mutations in the breast-cancer-susceptibility gene BRCA1 (hereafter referred to as BRCA1-mutation carriers) frequently undergo prophylactic mastectomy to minimize their risk of breast cancer. The identification of an effective prevention therapy therefore remains a 'holy grail' for the field. Precancerous BRCA1(mut/+) tissue harbors an aberrant population of luminal progenitor cells, and deregulated progesterone signaling has been implicated in BRCA1-associated oncogenesis. Coupled with the findings that tumor necrosis factor superfamily member 11 (TNFSF11; also known as RANKL) is a key paracrine effector of progesterone signaling and that RANKL and its receptor TNFRSF11A (also known as RANK) contribute to mammary tumorigenesis, we investigated a role for this pathway in the pre-neoplastic phase of BRCA1-mutation carriers. We identified two subsets of luminal progenitors (RANK(+) and RANK(-)) in histologically normal tissue of BRCA1-mutation carriers and showed that RANK(+) cells are highly proliferative, have grossly aberrant DNA repair and bear a molecular signature similar to that of basal-like breast cancer. These data suggest that RANK(+) and not RANK(-) progenitors are a key target population in these women. Inhibition of RANKL signaling by treatment with denosumab in three-dimensional breast organoids derived from pre-neoplastic BRCA1(mut/+) tissue attenuated progesterone-induced proliferation. Notably, proliferation was markedly reduced in breast biopsies from BRCA1-mutation carriers who were treated with denosumab. Furthermore, inhibition of RANKL in a Brca1-deficient mouse model substantially curtailed mammary tumorigenesis. Taken together, these findings identify a targetable pathway in a putative cell-of-origin population in BRCA1-mutation carriers and implicate RANKL blockade as a promising strategy in the prevention of breast cancer.

  7. Mitochondrial glutamate carriers from Drosophila melanogaster: biochemical, evolutionary and modeling studies.

    Science.gov (United States)

    Lunetti, Paola; Cappello, Anna Rita; Marsano, René Massimiliano; Pierri, Ciro Leonardo; Carrisi, Chiara; Martello, Emanuela; Caggese, Corrado; Dolce, Vincenza; Capobianco, Loredana

    2013-10-01

    The mitochondrial carriers are members of a family of transport proteins that mediate solute transport across the inner mitochondrial membrane. Two isoforms of the glutamate carriers, GC1 and GC2 (encoded by the SLC25A22 and SLC25A18 genes, respectively), have been identified in humans. Two independent mutations in SLC25A22 are associated with severe epileptic encephalopathy. In the present study we show that two genes (CG18347 and CG12201) phylogenetically related to the human GC encoding genes are present in the D. melanogaster genome. We have functionally characterized the proteins encoded by CG18347 and CG12201, designated as DmGC1p and DmGC2p respectively, by overexpression in Escherichia coli and reconstitution into liposomes. Their transport properties demonstrate that DmGC1p and DmGC2p both catalyze the transport of glutamate across the inner mitochondrial membrane. Computational approaches have been used in order to highlight residues of DmGC1p and DmGC2p involved in substrate binding. Furthermore, gene expression analysis during development and in various adult tissues reveals that CG18347 is ubiquitously expressed in all examined D. melanogaster tissues, while the expression of CG12201 is strongly testis-biased. Finally, we identified mitochondrial glutamate carrier orthologs in 49 eukaryotic species in order to attempt the reconstruction of the evolutionary history of the glutamate carrier function. Comparison of the exon/intron structure and other key features of the analyzed orthologs suggests that eukaryotic glutamate carrier genes descend from an intron-rich ancestral gene already present in the common ancestor of lineages that diverged as early as bilateria and radiata. © 2013.

  8. Detection of Babesia bovis carrier cattle by using polymerase chain reaction amplification of parasite DNA.

    Science.gov (United States)

    Fahrimal, Y; Goff, W L; Jasmer, D P

    1992-01-01

    Carrier cattle infected with Babesia bovis are difficult to detect because of the low numbers of parasites that occur in peripheral blood. However, diagnosis of low-level infections with the parasite is important for evaluating the efficacies of vaccines and in transmission and epidemiological studies. We used the polymerase chain reaction (PCR) to amplify a portion of the apocytochrome b gene from the parasite and tested the ability of this method to detect carrier cattle. The target sequence is associated with a 7.4-kb DNA element in undigested B. bovis genomic DNA (as shown previously), and the amplified product was detected by Southern and dot blot hybridization. The assay was specific for B. bovis, since no amplification was detected with Babesia bigemina, Trypanosoma brucei, Anaplasma marginale, or leukocyte DNA. The target sequence was amplified in DNA from B. bovis Mexico, Texas, and Australia S and L strains, demonstrating the applicability of the method to strains from different geographic regions. The sensitivity of the method ranged from 1 to 10 infected erythrocytes extracted from 0.5 ml of blood. This sensitivity was about 1,000 times greater than that from the use of unamplified parasite DNA. By the PCR method, six B. bovis carrier cattle were detected 86% of the time (range, 66 to 100%) when they were tested 11 times, while with microscopic examination of thick blood smears, the same carrier cattle were detected only 36% of the time (range, 17 to 66%). The method provides a useful diagnostic tool for detecting B. bovis carrier cattle, and the sensitivity is significantly improved over that of current methods. The results also suggest that characteristics of the apocytchrome b gene may make this a valuable target DNA for PCR-based detection of other hemoparasites. Images PMID:1624551

  9. Carrier Transport and Related Effects in Detectors of the Cryogenic Dark Matter Search

    Energy Technology Data Exchange (ETDEWEB)

    Sundqvist, Kyle Michael [Univ. of California, Berkeley, CA (United States)

    2012-01-01

    The Cryogenic Dark Matter Search (CDMS) is searching for weakly-interacting massive particles (WIMPS), which could explain the dark matter problem in cosmology and particle physics. By simultaneously measuring signals from deposited charge and the energy in nonequilibrium phonons created by particle interactions in intrinsic germanium crystals at a temperature of 40 mK, a signature response for each event is produced. This response, combined with phonon pulse-shape information, allows CDMS to actively discriminate candidate WIMP interactions with nuclei from electromagnetic radioactive background which interacts with electrons. The challenges associated with these techniques are unique. Carrier scattering is dominated by the spontaneous emission of Luke-Neganov phonons due to zeropoint fluctuations of the lattice ions. Drift fields are maintained at only a few V/cm, else these emitted phonons would dominate the phonons of the original interaction. The dominant systematic issues with CDMS detectors are due to the effects of space charge accumulation. It has been an open question how space charge accrues, and by which of several potential recombination and ionization processes. In this work, we have simulated the transport of electrons and holes in germanium under CDMS conditions. We have implemented both a traditional Monte Carlo technique based on carrier energy, followed later by a novel Monte Carlo algorithm with scattering rates defined and sampled by vector momentum. This vector-based method provides for a full anisotropic simulation of carrier transport including free-fight acceleration with an anisotropic mass, and anisotropic scattering rates. With knowledge of steady state carrier dynamics as a function of applied field, the results of our Monte Carlo simulations allow us to make a wide variety of predictions for energy dependent processes for both electrons and holes. Such processes include carrier capture by charged impurities, neutral impurities, static

  10. Utilization of Waste Materials for Microbial Carrier in Wastewater Treatment

    Directory of Open Access Journals (Sweden)

    H. T. Le

    2016-01-01

    Full Text Available This research focused on the ammonium-nitrogen (NH4-N removal from the domestic wastewater using the attached growth reactors. Two types of waste material of corncob (biodegradable material and concrete (nonbiodegradable material were used as the carrier for microorganisms’ attachment. During operation, both reactors achieved absolutely high performance of ammonium removal (up to 99% and total nitrogen removal (up to 95%. The significant advantage of corncob carrier was that the corncob was able to be a source of carbon for biological denitrification, leading to no external carbon requirement for operating the system. However, the corncob caused an increasing turbidity of the effluent. On the other hand, the concrete carrier required the minimal external carbon of 3.5 C/N ratio to reach the good performance. Moreover, a longer period for microorganisms’ adaptation was found in the concrete carrier rather than the corncob carrier. Further, the same physiological and biochemical characteristics of active bacteria were found at the two carriers, which were negative gram, cocci shape, and smooth and white-turbid colony. Due to the effluent quality, the concrete was more appropriate carrier than the corncob for wastewater treatment.

  11. Hybrid nanostructured drug carrier with tunable and controlled drug release

    International Nuclear Information System (INIS)

    Depan, D.; Misra, R.D.K.

    2012-01-01

    We describe here a transformative approach to synthesize a hybrid nanostructured drug carrier that exhibits the characteristics of controlled drug release. The synthesis of the nanohybrid architecture involved two steps. The first step involved direct crystallization of biocompatible copolymer along the long axis of the carbon nanotubes (CNTs), followed by the second step of attachment of drug molecule to the polymer via hydrogen bonding. The extraordinary inorganic–organic hybrid architecture exhibited high drug loading ability and is physically stable even under extreme conditions of acidic media and ultrasonic irradiation. The temperature and pH sensitive characteristics of the hybrid drug carrier and high drug loading ability merit its consideration as a promising carrier and utilization of the fundamental aspects used for synthesis of other promising drug carriers. The higher drug release response during the application of ultrasonic frequency is ascribed to a cavitation-type process in which the acoustic bubbles nucleate and collapse releasing the drug. Furthermore, the study underscores the potential of uniquely combining CNTs and biopolymers for drug delivery. - Graphical abstract: Block-copolymer crystallized on carbon nanotubes (CNTs). Nanohybrid drug carrier synthesized by attaching doxorubicin (DOX) to polymer crystallized CNTs. Crystallized polymer on CNTs provide mechanical stability. Triggered release of DOX. Highlights: ► The novel synthesis of a hybrid nanostructured drug carrier is described. ► The drug carrier exhibits high drug loading ability and is physically stable. ► The high drug release is ascribed to a cavitation-type process.

  12. Modeling of carrier dynamics in quantum-well electroabsorption modulators

    DEFF Research Database (Denmark)

    Højfeldt, Sune; Mørk, Jesper

    2002-01-01

    We present a comprehensive drift-diffusion-type electroabsorption modulator (EAM) model. The model allows us to investigate both steady-state properties and to follow the sweep-out of carriers after pulsed optical excitation. Furthermore, it allows for the investigation of the influence that vari...... in the field near each well affect the escape of carriers from that well. Finally, we look at the influence that the separate-confinement heterostructure barriers have on the carrier sweep-out....... that various design parameters have on the device properties, in particular how they affect the carrier dynamics and the corresponding field dynamics. A number of different types of results are presented. We calculate absorption spectra and steady-state field screening due to carrier pile-up at the separate......-confinement heterobarriers. We then move on to look at carrier sweep-out upon short-pulse optical excitation. For a structure with one well, we analyze how the well position affects the carrier sweep-out and the absorption recovery. We calculate the field dynamics in a multiquantum-well structure and discuss how the changes...

  13. Intrinsic information carriers in combinatorial dynamical systems

    Science.gov (United States)

    Harmer, Russ; Danos, Vincent; Feret, Jérôme; Krivine, Jean; Fontana, Walter

    2010-09-01

    self-consistent descriptors of system dynamics in that their time-evolution is governed by a closed system of kinetic equations. Taken together, fragments are endogenous distinctions that matter for the dynamics of a system, which warrants viewing them as the carriers of information. Although fragments can be thought of as multisets of molecular species (an extensional view), their self-consistency suggests treating them as autonomous aspects cut off from their microscopic realization (an intensional view). Fragmentation is a seeded process that depends on the choice of observables whose dynamics one insists to describe. Different observables can cause distinct fragmentations, in effect altering the set of information carriers that govern the behavior of a system, even though nothing has changed in its microscopic constitution. In this contribution, we present a mathematical specification of fragments, but not an algorithmic implementation. We have described the latter elsewhere in rather technical terms that, although effective, were lacking an embedding into a more general conceptual framework, which we here provide.

  14. Intrinsic information carriers in combinatorial dynamical systems.

    Science.gov (United States)

    Harmer, Russ; Danos, Vincent; Feret, Jérôme; Krivine, Jean; Fontana, Walter

    2010-09-01

    self-consistent descriptors of system dynamics in that their time-evolution is governed by a closed system of kinetic equations. Taken together, fragments are endogenous distinctions that matter for the dynamics of a system, which warrants viewing them as the carriers of information. Although fragments can be thought of as multisets of molecular species (an extensional view), their self-consistency suggests treating them as autonomous aspects cut off from their microscopic realization (an intensional view). Fragmentation is a seeded process that depends on the choice of observables whose dynamics one insists to describe. Different observables can cause distinct fragmentations, in effect altering the set of information carriers that govern the behavior of a system, even though nothing has changed in its microscopic constitution. In this contribution, we present a mathematical specification of fragments, but not an algorithmic implementation. We have described the latter elsewhere in rather technical terms that, although effective, were lacking an embedding into a more general conceptual framework, which we here provide.

  15. Safety and environmental aspects in LNG carrier design

    Energy Technology Data Exchange (ETDEWEB)

    Yoneyama, Takashi [Mitsui Shipbuilding and Engineering Co. Ltd., Tokyo (Japan)

    1997-06-01

    `Safety and Reliability` has been and will continue to be a key phr ase in marine transportation of LNG. Mitsui Engineering and Shipbuilding Co.,Ltd. has utilized its all expertise and state of art technologies to realize this objective, resulting in exceptionally successful operations of LNG carrier built by the Co. In line with growing global concern about environmental issues, we need to pay more attention to the environmental aspects of the design and construction of LNG carriers. Accordingly, in this paper, we present some topics related safety and environmental concerns which need to be taken into consideration in LNG carriers design and construction. (Author). 7 figs.

  16. Subcutaneous administration of carrier erythrocytes: slow release of entrapped agent

    International Nuclear Information System (INIS)

    DeLoach, J.R.; Corrier, D.E.

    1988-01-01

    Carrier erythrocytes administered subcutaneously in mice release encapsulated molecules at the injection site and through cells that escape the injection site. One day postinjection, the efflux of encapsulated [ 14 C]sucrose, [ 3 H]inulin, and 51 Cr-hemoglobin from the injection site was 45, 55, and 65%, respectively. Intact carrier erythrocytes escaped the injection site and entered the blood circulation carrying with them the encapsulated molecules. Most of the encapsulated [ 3 H]inulin that reached whole blood circulated within erythrocytes. Small but measurable numbers of encapsulated molecules were trapped within lymph nodes. Subcutaneous injection of carrier erythrocytes may allow for limited extravascular tissue targeting of drugs

  17. Safety and environmental aspects in LNG carrier design

    International Nuclear Information System (INIS)

    Takashi Yoneyama

    1997-01-01

    'Safety and Reliability' has been and will continue to be a key phr ase in marine transportation of LNG. Mitsui Engineering and Shipbuilding Co.,Ltd. has utilized its all expertise and state of art technologies to realize this objective, resulting in exceptionally successful operations of LNG carrier built by the Co. In line with growing global concern about environmental issues, we need to pay more attention to the environmental aspects of the design and construction of LNG carriers. Accordingly, in this paper, we present some topics related safety and environmental concerns which need to be taken into consideration in LNG carriers design and construction. (Author). 7 figs

  18. Optical investigation of carrier tunneling in semiconductor nanostructures

    Science.gov (United States)

    Emiliani, V.; Ceccherini, S.; Bogani, F.; Colocci, M.; Frova, A.; Shi, Song Stone

    1997-08-01

    The tunneling dynamics of excitons and free carriers in AlxGa1-xAs/GaAs asymmetric double quantum well and near-surface quantum well structures has been investigated by means of time-resolved optical techniques. The competing processes of carrier tunneling out of the quantum well and exciton formation and recombination inside the quantum well have been thoroughly studied in the range of the excitation densities relevant to device applications. A consistent picture capable of fully describing the carrier and exciton-tunneling mechanisms in both types of structures has been obtained and apparently contrasting results in the recent literature are clarified.

  19. Proposal for tutorial: Resilience in carrier Ethernet transport

    DEFF Research Database (Denmark)

    Berger, Michael Stübert; Wessing, Henrik; Ruepp, Sarah Renée

    2009-01-01

    This tutorial addresses how Carrier Ethernet technologies can be used in the transport network to provide resilience to the packet layer. Carrier Ethernet networks based on PBB-TE and T-MPLS/MPLS-TP are strong candidates for reliable transport of triple-play services. These technologies offer...... of enhancements are still required to make Carrier Ethernet ready for large scale deployments of reliable point-to-multipoint services. The tutorial highlights the necessary enhancements and shows possible solutions and directions towards reliable multicast. Explicit focus is on OAM for multicast, where...

  20. Wafer-scale characterization of carrier dynamics in graphene

    DEFF Research Database (Denmark)

    Buron, Jonas Christian Due; Petersen, Dirch Hjorth; Bøggild, Peter

    2015-01-01

    The electronic properties of single-layer graphene, such as surface conductance, carrier concentration, scattering time and mobility, can be characterized in a noncontact manner by THz time-domain spectroscopy. Standard spectroscopic imaging reveals the AC conductance over large areas with a few...... hundred μm resolution, and spectroscopic imaging on back-gated graphene allows for extraction of both the carrier concentration and the mobility. We find that spatial variations of the conductance of single-layer CVD-grown graphene are predominantly due to variations in mobility rather than in carrier...

  1. FMCSA safety program effectiveness measurement : carrier intervention effectiveness model, version 1.0 : [analysis brief].

    Science.gov (United States)

    2015-01-01

    The Carrier Intervention Effectiveness Model (CIEM) : provides the Federal Motor Carrier Safety : Administration (FMCSA) with a tool for measuring : the safety benefits of carrier interventions conducted : under the Compliance, Safety, Accountability...

  2. 77 FR 60507 - Motor Carrier Safety Advisory Committee (MCSAC): Public Subcommittee Meeting

    Science.gov (United States)

    2012-10-03

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2006-26367] Motor Carrier Safety Advisory Committee (MCSAC): Public Subcommittee Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of Meeting of Compliance, Safety...

  3. Introducing correlations into carrier transport simulations of disordered materials through seeded nucleation: impact on density of states, carrier mobility, and carrier statistics

    Science.gov (United States)

    Brown, J. S.; Shaheen, S. E.

    2018-04-01

    Disorder in organic semiconductors has made it challenging to achieve performance gains; this is a result of the many competing and often nuanced mechanisms effecting charge transport. In this article, we attempt to illuminate one of these mechanisms in the hopes of aiding experimentalists in exceeding current performance thresholds. Using a heuristic exponential function, energetic correlation has been added to the Gaussian disorder model (GDM). The new model is grounded in the concept that energetic correlations can arise in materials without strong dipoles or dopants, but may be a result of an incomplete crystal formation process. The proposed correlation has been used to explain the exponential tail states often observed in these materials; it is also better able to capture the carrier mobility field dependence, commonly known as the Poole-Frenkel dependence, when compared to the GDM. Investigation of simulated current transients shows that the exponential tail states do not necessitate Montroll and Scher fits. Montroll and Scher fits occur in the form of two distinct power law curves that share a common constant in their exponent; they are clearly observed as linear lines when the current transient is plotted using a log-log scale. Typically, these fits have been found appropriate for describing amorphous silicon and other disordered materials which display exponential tail states. Furthermore, we observe the proposed correlation function leads to domains of energetically similar sites separated by boundaries where the site energies exhibit stochastic deviation. These boundary sites are found to be the source of the extended exponential tail states, and are responsible for high charge visitation frequency, which may be associated with the molecular turnover number and ultimately the material stability.

  4. Premature ovarian failure (POF in Brazilian fragile X carriers

    Directory of Open Access Journals (Sweden)

    Angela M. Vianna-Morgante

    1999-12-01

    Full Text Available The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. Although premature menopause showed a tendency to cluster in certain fragile X families, as a group, the premutated women experienced menopause earlier than noncarriers. This suggests that premature menopause may be the extreme effect of a spectrum of ovarian anomalies associated with the fragile X premutation.Entrevistamos 193 mulheres de famílias com afetados pela síndrome do cromossomo X frágil, quanto a sua história ginecológica e reprodutiva. Entre as 101 portadoras da pré-mutação, 14 tiveram menopausa precoce, mas nenhuma das 37 portadoras da mutação completa ou das 55 não portadoras apresentaram esta anomalia. Observamos uma tendência para a concentração da menopausa precoce em certas famílias, o que poderia significar uma peculiariedade de certas pré-mutações. Entretanto, o fato de as mulheres pré-mutadas tenderem a entrar em menopausa mais cedo do que as não portadoras sugere que a menopausa precoce seja o extremo do espectro de efeitos ovarianos da pré-mutação.

  5. Effective carrier sweepout in a silicon waveguide by a metal-semiconductor-metal structure

    DEFF Research Database (Denmark)

    Ding, Yunhong; Hu, Hao; Ou, Haiyan

    2015-01-01

    We demonstrate effective carrier depletion by metal-semiconductor-metal junctions for a silicon waveguide. Photo-generated carriers are efficiently swept out by applying bias voltages, and a shortest carrier lifetime of only 55 ps is demonstrated.......We demonstrate effective carrier depletion by metal-semiconductor-metal junctions for a silicon waveguide. Photo-generated carriers are efficiently swept out by applying bias voltages, and a shortest carrier lifetime of only 55 ps is demonstrated....

  6. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening

    Energy Technology Data Exchange (ETDEWEB)

    Triggs-Raine, B.L.; Akerman, B.R.; Gravel, R.A. (McGill Univ.-Montreal Children' s Hospital Research Institute, Montreal, Quebec (Canada)); Mules, E.H.; Thomas, G.H.; Dowling, C.E. (Johns Hopkins School of Medicine, Baltimore, MD (United States)); Kaback, M.M.; Lim-Steele, J.S.T. (Univ. of California, San Diego, CA (United States)); Natowicz, M.R. (Eunice Kennedy Shriver Center for Mental Retardation, Waltham, MA (United States)); Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Navon, R.R. (Tel-Aviv Univ., Kfar-Sava (Israel)); Welch, J.P. (Dalhousie Univ., Halifax, Nova, Scotia (Canada)); Greenberg, C.R. (Univ. of Manitoba, Winnipeg (Canada))

    1992-10-01

    Deficiency of [beta]-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. The authors analyzed the HEXA gene of one pseudodeficient subject and identified both a C[sub 739]-to-T substitution that changes Arg[sub 247][yields]Trp on one allele and a previously identified Tay-Sachs disease mutation of the second allele. Six additional pseudodeficient subjects were found to have the C[sub 739]-to-T but for none of 36 Jewish enzyme-defined carries who did not have one of three known mutations common to this group. The C[sub 739]-to-T allele, together with a [open quotes]true[close quotes] Tay-Sachs disease allele, causes Hex A pseudodeficiency. Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C[sub 739]-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. This could prevent unnecessary or incorrect prenatal diagnoses. 40 refs., 3 figs., 4 tabs.

  7. Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

    Science.gov (United States)

    Kuchenbaecker, Karoline B.; McGuffog, Lesley; Barrowdale, Daniel; Lee, Andrew; Soucy, Penny; Healey, Sue; Dennis, Joe; Lush, Michael; Robson, Mark; Spurdle, Amanda B.; Ramus, Susan J.; Mavaddat, Nasim; Terry, Mary Beth; Neuhausen, Susan L.; Hamann, Ute; Southey, Melissa; John, Esther M.; Chung, Wendy K.; Daly, Mary B.; Buys, Saundra S.; Goldgar, David E.; Dorfling, Cecilia M.; van Rensburg, Elizabeth J.; Ding, Yuan Chun; Ejlertsen, Bent; Gerdes, Anne-Marie; Hansen, Thomas V. O.; Slager, Susan; Hallberg, Emily; Benitez, Javier; Osorio, Ana; Cohen, Nancy; Lawler, William; Weitzel, Jeffrey N.; Peterlongo, Paolo; Pensotti, Valeria; Dolcetti, Riccardo; Barile, Monica; Bonanni, Bernardo; Azzollini, Jacopo; Manoukian, Siranoush; Peissel, Bernard; Radice, Paolo; Savarese, Antonella; Papi, Laura; Giannini, Giuseppe; Fostira, Florentia; Konstantopoulou, Irene; Adlard, Julian; Brewer, Carole; Cook, Jackie; Davidson, Rosemarie; Eccles, Diana; Eeles, Ros; Ellis, Steve; Frost, Debra; Hodgson, Shirley; Izatt, Louise; Lalloo, Fiona; Ong, Kai-ren; Godwin, Andrew K.; Arnold, Norbert; Dworniczak, Bernd; Engel, Christoph; Gehrig, Andrea; Hahnen, Eric; Hauke, Jan; Kast, Karin; Meindl, Alfons; Niederacher, Dieter; Schmutzler, Rita Katharina; Varon-Mateeva, Raymonda; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Barjhoux, Laure; Collonge-Rame, Marie-Agnès; Elan, Camille; Golmard, Lisa; Barouk-Simonet, Emmanuelle; Lesueur, Fabienne; Mazoyer, Sylvie; Sokolowska, Joanna; Stoppa-Lyonnet, Dominique; Isaacs, Claudine; Claes, Kathleen B. M.; Poppe, Bruce; de la Hoya, Miguel; Garcia-Barberan, Vanesa; Aittomäki, Kristiina; Nevanlinna, Heli; Ausems, Margreet G. E. M.; de Lange, J. L.; Gómez Garcia, Encarna B.; Hogervorst, Frans B. L.; Kets, Carolien M.; Meijers-Heijboer, Hanne E. J.; Oosterwijk, Jan C.; Rookus, Matti A.; van Asperen, Christi J.; van den Ouweland, Ans M. W.; van Doorn, Helena C.; van Os, Theo A. M.; Kwong, Ava; Olah, Edith; Diez, Orland; Brunet, Joan; Lazaro, Conxi; Teulé, Alex; Gronwald, Jacek; Jakubowska, Anna; Kaczmarek, Katarzyna; Lubinski, Jan; Sukiennicki, Grzegorz; Barkardottir, Rosa B.; Chiquette, Jocelyne; Agata, Simona; Montagna, Marco; Teixeira, Manuel R.; Park, Sue Kyung; Olswold, Curtis; Tischkowitz, Marc; Foretova, Lenka; Gaddam, Pragna; Vijai, Joseph; Pfeiler, Georg; Rappaport-Fuerhauser, Christine; Singer, Christian F.; Tea, Muy-Kheng M.; Greene, Mark H.; Loud, Jennifer T.; Rennert, Gad; Imyanitov, Evgeny N.; Hulick, Peter J.; Hays, John L.; Piedmonte, Marion; Rodriguez, Gustavo C.; Martyn, Julie; Glendon, Gord; Mulligan, Anna Marie; Andrulis, Irene L.; Toland, Amanda Ewart; Jensen, Uffe Birk; Kruse, Torben A.; Pedersen, Inge Sokilde; Thomassen, Mads; Caligo, Maria A.; Teo, Soo-Hwang; Berger, Raanan; Friedman, Eitan; Laitman, Yael; Arver, Brita; Borg, Ake; Ehrencrona, Hans; Rantala, Johanna; Olopade, Olufunmilayo I.; Ganz, Patricia A.; Nussbaum, Robert L.; Bradbury, Angela R.; Domchek, Susan M.; Nathanson, Katherine L.; Arun, Banu K.; James, Paul; Karlan, Beth Y.; Lester, Jenny; Simard, Jacques; Pharoah, Paul D. P.; Offit, Kenneth; Couch, Fergus J.; Chenevix-Trench, Georgia; Easton, Douglas F.

    2017-01-01

    Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]–positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2×10−53). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2×10−20). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management. PMID

  8. Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers

    DEFF Research Database (Denmark)

    Eskildsen, Simon F; Østergaard, Lasse R; Rodell, Anders B

    2008-01-01

    with a mean interval of 16 months and surface based cortical segmentation we measured cortical thickness and volume, and quantified atrophy rates. Cortical thickness and atrophy rates were averaged within major lobes and focal effects were determined by parametric statistical maps. The volumetric atrophy...... in the frontal and occipital lobes, and in the left temporal lobe. Results indicated that cortical thickness has a higher sensitivity for detecting small changes than whole-brain volumetric measures. Comparing mutation carriers with non-carriers revealed increased atrophy rates in mutation carriers bilaterally...

  9. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

    DEFF Research Database (Denmark)

    Lecarpentier, Julie; Silvestri, Valentina; Kuchenbaecker, Karoline B.

    2017-01-01

    Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge-associations of common genetic variants with breast and prostate cancer risks...

  10. Fluoro-2-deoxy-D-glucose (FDG)-PET in APOEepsilon4 carriers in the Australian population.

    Science.gov (United States)

    Rimajova, Mira; Lenzo, Nat P; Wu, Jing-Shan; Bates, Kristyn A; Campbell, Andrew; Dhaliwal, Satvinder S; McCarthy, Michael; Rodrigues, Mark; Paton, Athena; Rowe, Christopher; Foster, Jonathan K; Martins, Ralph N

    2008-03-01

    Apolipoprotein E-epsilon4 (APOEepsilon4) has been associated with increased risk of developing Alzheimer's disease (AD) and regional cerebral glucose hypometabolism, as measured by fluoro-2-deoxy-D-glucose-positron emission tomography (FDG-PET). We report here preliminary data from studies that aim to determine whether cerebral glucose hypometabolism is observed in APOEepsilon4 positive, cognitively intact individuals between the ages of 50 and 80, and whether there is an additional impact of subjective memory complainer (SMC) status on glucose metabolism determined by NeuroStat analysis. FDG-PET was conducted in 30 community dwelling, APOE-epsilon4 carriers without clinical evidence of dementia and objective cognitive impairment as assessed using a neuropsychological battery. Neurological soft-signs (NSS) were also assessed. Glucose hypometabolism was demonstrated in the anterior and posterior cingulate cortex and in the temporal association cortices in APOEepsilon4 carriers compared to the normative NeuroStat database. This pattern was particularly evident in APOEepsilon4 heterozygous individuals. SMC showed hypometabolism in the aforementioned brain regions, whereas non-SMC showed no significant pattern of glucose hypometabolism. FDG-PET with NeuroStat analysis showed that APOEepsilon4 carriers have mild glucose hypometabolism in areas associated with AD. SMC may be associated with AD-related differences in regional cerebral glucose metabolism. These findings are currently being investigated in a larger group of APOEepsilon4 carriers.

  11. Manipulation of charge carrier injection into organic field-effect transistors by self-assembled monolayers of alkanethiols

    NARCIS (Netherlands)

    Asadi, Kamal; Gholamrezaie, Fatemeh; Smits, Edsger C. P.; Blom, Paul W. M.; de Boer, Bert

    2007-01-01

    Charge carrier injection into two semiconducting polymers is investigated in field-effect transistors using gold source and drain electrodes that are modified by self-assembled monolayers of alkanethiols and perfluorinated alkanethiols. The presence of an interfacial dipole associated with the

  12. Genetic and epigenetic alterations of the reduced folate carrier in untreated diffuse large B-cell lymphoma

    DEFF Research Database (Denmark)

    Kastrup, Ingelise Bjerring; Worm, Jesper; Ralfkiaer, Elisabeth

    2007-01-01

    The reduced folate carrier (RFC) is a transmembrane protein that mediates cellular uptake of reduced folates and antifolate drugs, including methotrexate (MTX). Acquired alterations of the RFC gene have been associated with resistance to MTX in cancer cell lines and primary osteosarcomas. Here, we...

  13. 47 CFR 54.418 - Digital Television Transition Notices by Eligible Telecommunications Carriers.

    Science.gov (United States)

    2010-10-01

    ... Carriers. (a) Eligible telecommunications carriers (ETCs) that receive federal universal service funds..., brochure). (d) ETCs that receive federal universal service funds shall provide information on the DTV...

  14. Herbal carrier-based floating microparticles of diltiazem ...

    African Journals Online (AJOL)

    hydrochloride using psyllium husk and sodium alginate as natural herbal carriers to improve the ... Keywords: Diltiazem, Cardiac disease, Psyllium husk, Sodium alginate, Microsphere, ..... Barkai A, Pathak YV, Benita S. Polyacrylate (Eudragit.

  15. Carrier population control and surface passivation in solar cells

    KAUST Repository

    Cuevas, Andres; Wan, Yimao; Yan, Di; Samundsett, Christian; Allen, Thomas; Zhang, Xinyu; Cui, Jie; Bullock, James

    2018-01-01

    Controlling the concentration of charge carriers near the surface is essential for solar cells. It permits to form regions with selective conductivity for either electrons or holes and it also helps to reduce the rate at which they recombine

  16. Educational and technical assistance to CMV drivers and motor carriers

    Science.gov (United States)

    1999-07-01

    The Peer Exchange is a process adopted by the Office of Motor Carrier and Highway Safety in which teams of professionals, representing state and federal government and private industry, identify effective commercial motor vehicle safety findings for ...

  17. Stacking dependence of carrier transport properties in multilayered black phosphorous

    Science.gov (United States)

    Sengupta, A.; Audiffred, M.; Heine, T.; Niehaus, T. A.

    2016-02-01

    We present the effect of different stacking orders on carrier transport properties of multi-layer black phosphorous. We consider three different stacking orders AAA, ABA and ACA, with increasing number of layers (from 2 to 6 layers). We employ a hierarchical approach in density functional theory (DFT), with structural simulations performed with generalized gradient approximation (GGA) and the bandstructure, carrier effective masses and optical properties evaluated with the meta-generalized gradient approximation (MGGA). The carrier transmission in the various black phosphorous sheets was carried out with the non-equilibrium green’s function (NEGF) approach. The results show that ACA stacking has the highest electron and hole transmission probabilities. The results show tunability for a wide range of band-gaps, carrier effective masses and transmission with a great promise for lattice engineering (stacking order and layers) in black phosphorous.

  18. An Estimation Method for number of carrier frequency

    Directory of Open Access Journals (Sweden)

    Xiong Peng

    2015-01-01

    Full Text Available This paper proposes a method that utilizes AR model power spectrum estimation based on Burg algorithm to estimate the number of carrier frequency in single pulse. In the modern electronic and information warfare, the pulse signal form of radar is complex and changeable, among which single pulse with multi-carrier frequencies is the most typical one, such as the frequency shift keying (FSK signal, the frequency shift keying with linear frequency (FSK-LFM hybrid modulation signal and the frequency shift keying with bi-phase shift keying (FSK-BPSK hybrid modulation signal. In view of this kind of single pulse which has multi-carrier frequencies, this paper adopts a method which transforms the complex signal into AR model, then takes power spectrum based on Burg algorithm to show the effect. Experimental results show that the estimation method still can determine the number of carrier frequencies accurately even when the signal noise ratio (SNR is very low.

  19. GUI Application for ATCA-based LLRF Carrier Board Management

    CERN Document Server

    Wychowaniak, Jan; Predki, Pawel; Napieralski, Andrzej

    2011-01-01

    The Advanced Telecommunications Computing Architecture (ATCA) standard describes an efficient and powerful platform, implementation of which was adopted to be used as a base for control systems in high energy physics. The ATCA platform is considered to be applied for the X-ray Free Electron Laser (X-FEL), being built at Deutsches Electronen- Synchrotron (DESY) in Hamburg, Germany. The Low Level Radio Frequency (LLRF) control system is composed of a few ATCA Carrier Boards. Carrier Board hosts Intelligent Platform Management Controller (IPMC), which is developed in compliance with the PICMG specifications. IPMC is responsible for management and monitoring of sub-modules installed on Carrier Boards and pluggable Advanced Mezzanine Card (AMC) modules. The ATCA Shelf Manager is the main control unit of a single ATCA crate, responsible for all power and fan modules and Carrier Boards installed in ATCA shelf. The device provides a system administrator with a set of control and diagnostic capabilities regarding the ...

  20. Magnetic suspension and pointing system. [on a carrier vehicle

    Science.gov (United States)

    Anderson, W. W.; Groom, N. J. (Inventor)

    1979-01-01

    Apparatus for providing accurate pointing of instruments on a carrier vehicle and for providing isolation of the instruments from the vehicle's motion disturbances is presented. The apparatus includes two assemblies, with connecting interfaces, each assembly having a separate function. The first assembly is attached to the carrier vehicle and consists of an azimuth gimbal and an elevation gimbal which provide coarse pointing of the instruments by allowing two rotations of the instruments relative to the carrier vehicle. The second or vernier pointing assembly is made up of magnetic suspension and fine pointing actuators, roll motor segments, and an instrument mounting plate around which a continuous annular rim is attached which provides appropriate magnetic circuits for the actuators and the roll motor segments. The vernier pointing assembly provides six degree-of-freedom isolation from carrier motion disturbances.

  1. Acid extraction by supported liquid membranes containing basic carriers

    International Nuclear Information System (INIS)

    Danesi, P.R.; Cianetti, C.; Horwitz, E.P.

    1983-01-01

    The extraction of HNO 3 (nitric acid) from aqueous solutions by permeation through a number of supported liquid membranes containing basic carriers dissolved in diethylbenzene has been studied. The results have shown that the best permeations are obtained with long chain aliphatic amines (TLA, Primene JM-T) followed by TOPO (trioctylphosphine oxide) and then by other monofunctional and bifunctional organophosphorous basic carriers. The influence of an aliphatic diluent on the permeability of HNO 3 through a supported liquid membrane containing TLA as carrier was also investigated. In this case the permeability to HNO 3 decreases as a result of the lower diffusion coefficient of the acid-carrier complex in the more vicous aliphatic solvent. 4 figures

  2. Research and technology in the Federal Motor Carrier Safety Administration

    Science.gov (United States)

    2002-01-01

    As the Federal Government's chief commercial vehicle safety agency, the Federal Motor Carrier Safety Administration's (FMCSA), Office of Research and Technology (R&T) focuses on saving lives and reducing injuries by helping to prevent crashes involvi...

  3. Study of Charge Carrier Transport in GaN Sensors

    Science.gov (United States)

    Gaubas, Eugenijus; Ceponis, Tomas; Kuokstis, Edmundas; Meskauskaite, Dovile; Pavlov, Jevgenij; Reklaitis, Ignas

    2016-01-01

    Capacitor and Schottky diode sensors were fabricated on GaN material grown by hydride vapor phase epitaxy and metal-organic chemical vapor deposition techniques using plasma etching and metal deposition. The operational characteristics of these devices have been investigated by profiling current transients and by comparing the experimental regimes of the perpendicular and parallel injection of excess carrier domains. Profiling of the carrier injection location allows for the separation of the bipolar and the monopolar charge drift components. Carrier mobility values attributed to the hydride vapor phase epitaxy (HVPE) GaN material have been estimated as μe = 1000 ± 200 cm2/Vs for electrons, and μh = 400 ± 80 cm2/Vs for holes, respectively. Current transients under injection of the localized and bulk packets of excess carriers have been examined in order to determine the surface charge formation and polarization effects. PMID:28773418

  4. Tri-metallic ferrite oxygen carriers for chemical looping combustion

    Science.gov (United States)

    Siriwardane, Ranjani V.; Fan, Yueying

    2017-10-25

    The disclosure provides a tri-metallic ferrite oxygen carrier for the chemical looping combustion of carbonaceous fuels. The tri-metallic ferrite oxygen carrier comprises Cu.sub.xFe.sub.yMn.sub.zO.sub.4-.delta., where Cu.sub.xFe.sub.yMn.sub.zO.sub.4-.delta. is a chemical composition. Generally, 0.5.ltoreq.x.ltoreq.2.0, 0.2.ltoreq.y.ltoreq.2.5, and 0.2.ltoreq.z.ltoreq.2.5, and in some embodiments, 0.8.ltoreq.x.ltoreq.1.2, y.ltoreq.1.2, and z.gtoreq.0.8. The tri-metallic ferrite oxygen carrier may be used in various applications for the combustion of carbonaceous fuels, including as an oxygen carrier for chemical looping combustion.

  5. Development of an oxygen carrier nanoemulsion for organ preservation

    CSIR Research Space (South Africa)

    Barnard, A

    2010-08-31

    Full Text Available high levels of chemical stability and biological inertness which makes them suitable for biological use1,2. Perfluorooctyl bromide (PFOB) is the particular PFC used in the CSIR oxygen carrier emulsion1,2....

  6. Importance of polaron effects for charge carrier mobility above and ...

    Indian Academy of Sciences (India)

    Orifjon Ganiev

    2017-05-30

    May 30, 2017 ... sizes and effective masses are large polarons. According ... nating metallic and insulating domains with mobile ... The mobile polaronic carriers are con- ..... [51] T Kondo, Y Hamaya, A D Palczewski, T Takeuchi, J S Wen,.

  7. Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

    DEFF Research Database (Denmark)

    van Nuenen, BF; Siebner, Hartwig; Weiss, MM

    2008-01-01

    inherited Parkinson disease alters the cortical control of sequential finger movements. METHODS: Nonmanifesting individuals carrying a single heterozygous Parkin (n = 13) or PINK1 (n = 9) mutation and 23 healthy controls without these mutations were studied with functional MRI (fMRI). During f...... rostral dorsal premotor cortex in mutation carriers but not in controls. Task-related activation of these premotor areas was similar in carriers of a Parkin or PINK1 mutation. CONCLUSION: Mutations in different genes linked to recessively inherited Parkinson disease are associated with an additional...... recruitment of rostral supplementary motor area and rostral dorsal premotor cortex during a simple motor sequence task. These premotor areas were recruited independently of the underlying genotype. The observed activation most likely reflects a "generic" compensatory mechanism to maintain motor function...

  8. Differences in gene transcriptomic pattern of Plasmodium falciparum in children with cerebral malaria and asymptomatic carriers

    DEFF Research Database (Denmark)

    Almelli, Talleh; Nuel, Grégory; Bischoff, Emmanuel

    2014-01-01

    . In this study, we analyzed the transcriptomes of isolates obtained from asymptomatic carriers and patients with uncomplicated or cerebral malaria. We also investigated the transcriptomes of 3D7 clone and 3D7-Lib that expresses severe malaria associated-variant surface antigen. Our findings revealed a specific...... up-regulation of genes involved in pathogenesis, adhesion to host cell, and erythrocyte aggregation in parasites from patients with cerebral malaria and 3D7-Lib, compared to parasites from asymptomatic carriers and 3D7, respectively. However, we did not find any significant difference between...... and their neighboring rif genes in 3D7-lib. Therefore, more investigations are needed to analyze the effective role of these genes during malaria infection to provide with new knowledge on malaria pathology. In addition, concomitant regulation of genes within the chromosomal neighborhood suggests a common mechanism...

  9. The Coselle CNG carrier : a new way to ship natural gas by sea

    International Nuclear Information System (INIS)

    Stenning, D.

    1999-01-01

    Coselle CNG carriers represent an emerging technology option for water-borne natural gas transportation. The idea behind the Coselle is to create a large but compact CNG storage system using pipe coiled into a carousel. The system promises to significantly improve the economics of shipping natural gas over short sea routes. This would unlock many gas reserves which are stranded because of the high costs associated with shipping natural gas by conventional tankers. The innovative patented technology for Coselle CNG carriers was described in this paper. The completed work on the technology is sufficient to allow a pilot project to proceed before the next step of commercialization of the technology. The technology can be applied in the Mediterranean Sea, the Caribbean Sea, the Arabian Sea, Sakhalin Island, Canada's east coast, Deepwater offshore Brazil and Gulf of Mexico, and West Africa. 4 refs., 1 tab., 5 figs

  10. Vector Magnetometer Application with Moving Carriers

    Directory of Open Access Journals (Sweden)

    Andrii Prystai

    2016-12-01

    Full Text Available In magnetic prospecting the aeromagnetic survey is a widespread method used for research in large territories or in the areas with difficult access (forests, swamps, shallow waters. At present, a new type of mobile carriers – remotely piloted vehicles or drones – is becoming very common. The drones supplied by magnetometer can be also used for underground utility location (for example, steel and concrete constructions, buried power cables, to name a few. For aeromagnetic survey, obtaining of 3-component magnetic field data gives higher processing precision, so the fluxgate magnetometers (FGM seem to be the most preferable by reason of low weight, noise, power consumption and costs. During movement of FGM fixed to a drone practically permanent attitude changes in the Earth’s magnetic field arises with corresponding changes of its projection at FGM axes. Also the electromagnetic interference from the drone motor and uncontrolled oscillations of drone and suspension are the factors which limit the magnetometer sensitivity level. Aroused because of this, signals significantly exceed the expected signals from a studied object and so should be removed by proper interference filtration and use of stabilized towed construction, as well as at data processing. To find the necessary resolution threshold of a drone-portable FGM, the modeling was made to estimate magnetic field value from a small sphere about 1 cm radius at the minimal altitude of drone flight and it was shown that such a small object can be reliably detected if the FGM noise level is less than 0.15 nT. Next requirement is the necessity to decrease as much as possible the FGM power consumption with retention of low noise level. Finally, because of drone movement, the broadening of a frequency range should be done. The LEMI-026 magnetometer was developed satisfying all requirements to the drone-mounted device. The field tests were successfully performed using two of LEMI-026

  11. Acoustic radiation force control: Pulsating spherical carriers.

    Science.gov (United States)

    Rajabi, Majid; Mojahed, Alireza

    2018-02-01

    power supply for distinct cases of zero, negative and positive radiation force states along with the frequency dependent asymmetry index. In addition, considering the effect of phase difference between the incident wave field and the pulsating object, and its possible variation with respect to spatial position of object, some practical points about the spatial average of generated radiation force, the optimal state of operation, the stability of zero radiation force states and the possibly of precise motion control are discussed. This work would extend the novel concept of smart carriers to and may be helpful for robust single-beam acoustic handling techniques. Furthermore, the shown capability of precise motion control may be considered as a new way toward smart acoustic driven micro-mechanisms and micro-machines. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Magnetic Generation due to Mass Difference between Charge Carriers

    OpenAIRE

    Chen, Shi; Dan, JiaKun; Chen, ZiYu; Li, JianFeng

    2013-01-01

    The possibility of spontaneous magnetization due to the "asymmetry in mass" of charge carriers in a system is investigated. Analysis shows that when the masses of positive and negative charge carriers are identical, no magnetization is predicted. However, if the masses of two species are different, spontaneous magnetic field would appear, either due to the equipartition of magnetic energy or due to fluctuations together with a feedback mechanism. The conditions for magnetization to occur are ...

  13. Cancer risks for MLH1 and MSH2 mutation carriers

    OpenAIRE

    Dowty, James G.; Win, Aung K.; Buchanan, Daniel D.; Lindor, Noralane M.; Macrae, Finlay A.; Clendenning, Mark; Antill, Yoland C.; Thibodeau, Stephen N.; Casey, Graham; Gallinger, Steve; Le Marchand, Loic; Newcomb, Polly A.; Haile, Robert W.; Young, Graeme P.; James, Paul A.

    2013-01-01

    We studied 17,576 members of 166 MLH1 and 224 MSH2 mutation-carrying families from the Colon Cancer Family Registry. Average cumulative risks of colorectal cancer (CRC), endometrial cancer (EC) and other cancers for carriers were estimated using modified segregation analysis conditioned on ascertainment criteria. Heterogeneity in risks was investigated using a polygenic risk modifier. Average CRC cumulative risks to age 70 years (95% confidence intervals) for MLH1 and MSH2 mutation carriers, ...

  14. Hot carrier dynamics in plasmonic transition metal nitrides

    Science.gov (United States)

    Habib, Adela; Florio, Fred; Sundararaman, Ravishankar

    2018-06-01

    Extraction of non-equilibrium hot carriers generated by plasmon decay in metallic nano-structures is an increasingly exciting prospect for utilizing plasmonic losses, but the search for optimum plasmonic materials with long-lived carriers is ongoing. Transition metal nitrides are an exciting class of new plasmonic materials with superior thermal and mechanical properties compared to conventional noble metals, but their suitability for plasmonic hot carrier applications remains unknown. Here, we present fully first principles calculations of the plasmonic response, hot carrier generation and subsequent thermalization of all group IV, V and VI transition metal nitrides, fully accounting for direct and phonon-assisted transitions as well as electron–electron and electron–phonon scattering. We find the largest frequency ranges for plasmonic response in ZrN, HfN and WN, between those of gold and silver, while we predict strongest absorption in the visible spectrum for the VN, NbN and TaN. Hot carrier generation is dominated by direct transitions for most of the relevant energy range in all these nitrides, while phonon-assisted processes dominate only below 1 eV plasmon energies primarily for the group IV nitrides. Finally, we predict the maximum hot carrier lifetimes to be around 10 fs for group IV and VI nitrides, a factor of 3–4 smaller than noble metals, due to strong electron–phonon scattering. However, we find longer carrier lifetimes for group V nitrides, comparable to silver for NbN and TaN, while exceeding 100 fs (twice that of silver) for VN, making them promising candidates for efficient hot carrier extraction.

  15. Chitosan nanoparticles as drug delivery carriers for biomedical engineering

    International Nuclear Information System (INIS)

    Shi, L.E.S.; Chen, M.; XINF, L.Y.; Guo, X.F.; Zhao, L.M.

    2011-01-01

    Chitosan is a rather abundant material, which has been widely used in food industrial and bioengineering aspects, including in encapsulating active food ingredients, in enzyme immobilization, and as a carrier for drug delivery, due to its significant biological and chemical properties such as biodegradable, biocompatible, bioactive and polycationic. This review discussed preparation and applications of chitosan nanoparticles in the biomedical engineering field, namely as a drug delivery carrier for biopharmaceuticals. (author)

  16. Perlite as a carrier of phosphate-accumulating bacteria

    International Nuclear Information System (INIS)

    Ivankovic, T.; Hrenovic, J.; Sekovanic, L.; Tofant, A.

    2009-01-01

    The phosphate (P)-accumulating bacteria are important for biological P removal from wastewater. Currently, attention is being drawn to the immobilisation of desired bacteria on different carriers in order to achieve a better efficiency of the wastewater treatment. In this study, two size fractions (0.1-1 and 0.1-2 mm) of different forms of expanded perlite (original, autoclaved and magnesium-exchanged) were investigates as possible carriers of P accumulating bacterium. (Author)

  17. Mechanism of carrier-induced ferromagnetism in diluted magnetic semiconductors

    International Nuclear Information System (INIS)

    Takahashi, M.; Furukawa, N.; Kubo, K.

    2004-01-01

    Using the spin-polarized band obtained by applying the dynamical coherent potential approximation to a simple model, we have calculated the magnetization of Ga x Mn 1-x As as a function of the temperature for various values of carrier density. The result is consistent with the experimental observation, supporting the view previously proposed by us that the ferromagnetism is induced by the carriers in the bandtail through double-exchange-like mechanism

  18. Innovation in Carrier Aviation (Naval War College Newport Papers, 37)

    Science.gov (United States)

    2011-08-01

    recover ever heavier and faster aircraft. We will also link these issues. When we began this study, we thought that those linkages would stand out once...even larger carrier aircraft were required, and so the bureau officially asked Grumman to develop a twin-engine tor- pedo bomber for use from carriers.20...could not provide cylinder liners, cylinder link forgings, or the sealing strip (to keep the propelling gas from leak- ing through the slot) quickly

  19. Carrier-phonon interaction in semiconductor quantum dots

    Energy Technology Data Exchange (ETDEWEB)

    Seebeck, Jan

    2009-03-10

    In recent years semiconductor quantum dots have been studied extensively due to their wide range of possible applications, predominantly for light sources. For successful applications, efficient carrier scattering processes as well as a detailed understanding of the optical properties are of central importance. The aims of this thesis are theoretical investigations of carrier scattering processes in InGaAs/GaAs quantum dots on a quantum-kinetic basis. A consistent treatment of quasi-particle renormalizations and carrier kinetics for non-equilibrium conditions is presented, using the framework of non-equilibrium Green's functions. The focus of our investigations is the interaction of carriers with LO phonons. Important for the understanding of the scattering mechanism are the corresponding quasi-particle properties. Starting from a detailed study of quantum-dot polarons, scattering and dephasing processes are discussed for different temperature regimes. The inclusion of polaron and memory effects turns out to be essential for the description of the carrier kinetics in quantum-dot systems. They give rise to efficient scattering channels and the obtained results are in agreement with recent experiments. Furthermore, a consistent treatment of the carrier-LO-phonon and the carrier-carrier interaction is presented for the optical response of semiconductor quantum dots, both giving rise to equally important contributions to the dephasing. Beside the conventional GaAs material system, currently GaN based light sources are of high topical interest due to their wide range of possible emission frequencies. In this material additionally intrinsic properties like piezoelectric fields and strong band-mixing effects have to be considered. For the description of the optical properties of InN/GaN quantum dots a procedure is presented, where the material properties obtained from an atomistic tight-binding approach are combined with a many-body theory for non

  20. The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier.

    Science.gov (United States)

    Kim, Ju-Yeon; Moon, Hyeong-Gon; Kang, Young-Joon; Han, Wonshik; Noh, Woo-Chul; Jung, Yongsik; Moon, Byung-In; Kang, Eunyoung; Park, Sung-Shin; Lee, Min Hyuk; Park, Bo Young; Lee, Jong Won; Noh, Dong-Young

    2017-09-01

    Germline mutations in the BRCA1 and BRCA2 genes confer increased risks for breast cancers. However, the clinical presentation of breast cancer among women who are carriers of the BRCA1 or BRCA2 ( BRCA1/2 carriers) mutations is heterogenous. We aimed to identify the effects of the reproductive histories of women with the BRCA1/2 mutations on the clinical presentation of breast cancer. We retrospectively analyzed clinical data on women with proven BRCA1 and BRCA2 mutations who were recruited to the Korean Hereditary Breast Cancer study, from 2007 to 2014. Among the 736 women who were BRCA1/2 mutation carriers, a total of 483 women had breast cancers. Breast cancer diagnosis occurred at significantly younger ages in women who experienced menarche at ≤14 years of age, compared to those who experienced menarche at >14 years of age (37.38±7.60 and 43.30±10.11, respectively, p women with the BRCA2 mutation. The prevalence of advanced stages (stage II or III vs. stage I) of disease in parous women was higher than in nulliparous women (68.5% vs. 55.2%, p =0.043). This association was more pronounced in women with the BRCA2 mutation (hazard ratio, 2.67; p =0.014). Our results suggest that reproductive factors, such as the age of onset of menarche and the presence of parity, are associated with the clinical presentation patterns of breast cancer in BRCA1/2 mutation carriers.

  1. Nanostructured lipid carriers system: recent advances in drug delivery.

    Science.gov (United States)

    Iqbal, Md Asif; Md, Shadab; Sahni, Jasjeet Kaur; Baboota, Sanjula; Dang, Shweta; Ali, Javed

    2012-12-01

    Nanostructured lipid carrier (NLC) is second generation smarter drug carrier system having solid matrix at room temperature. This carrier system is made up of physiological, biodegradable and biocompatible lipid materials and surfactants and is accepted by regulatory authorities for application in different drug delivery systems. The availability of many products in the market in short span of time reveals the success story of this delivery system. Since the introduction of the first product, around 30 NLC preparations are commercially available. NLC exhibit superior advantages over other colloidal carriers viz., nanoemulsions, polymeric nanoparticles, liposomes, SLN etc. and thus, have been explored to more extent in pharmaceutical technology. The whole set of unique advantages such as enhanced drug loading capacity, prevention of drug expulsion, leads to more flexibility for modulation of drug release and makes NLC versatile delivery system for various routes of administration. The present review gives insights on the definitions and characterization of NLC as colloidal carriers including the production techniques and suitable formulations. This review paper also highlights the importance of NLC in pharmaceutical applications for the various routes of drug delivery viz., topical, oral, pulmonary, ocular and parenteral administration and its future perspective as a pharmaceutical carrier.

  2. Development of carrier usage for the treatment of radioactive effluent

    Energy Technology Data Exchange (ETDEWEB)

    Kahraman, A [Cekmece Nuclear Research and Training Center, Istanbul (Turkey)

    1997-02-01

    Low level radioactive liquid wastes are produced in many nuclear applications. Their physico-chemical characteristics may very considerably. Chemical precipitation is a convenient treatment method for the liquid streams of high salinity or solid content containing different radionuclide types. Generally, the concentrations of nuclides in liquid wastes are extremely low. For example, 1000 Bq of {sup 137}Cs makes about 3{center_dot}10{sup -10} g of caesium. Therefore conventional precipitation cannot be applied since the solubility product value is not exceeded. The carriers which are capable to adsorb the nuclides are used to achieve the nuclide removal. Stable isotopes of the nuclide are usually added as the carriers but any reagent which has similar chemical specifications with the nuclide can also be used as the carrier. Precipitation of these non-radioactive carriers ion together with the radionuclide is called co-precipitation. The operational steps of the chemical precipitation process should be established and applied in a treatment facility. Thus, the most suitable carrier for a particular nuclide and its usage conditions are required to be determined. In this study, the carriers for removal of {sup 137}Cs and uranium, their accurate amounts and usage conditions to achieve highest decontamination factors (DF) have been investigated. Residual sludge volumes were evaluated for cementation purposes. The cement composite samples were prepared for each set of experiments and hardening times were measured. 9 refs, 9 figs.

  3. Development of carrier usage for the treatment of radioactive effluent

    International Nuclear Information System (INIS)

    Kahraman, A.

    1997-01-01

    Low level radioactive liquid wastes are produced in many nuclear applications. Their physico-chemical characteristics may very considerably. Chemical precipitation is a convenient treatment method for the liquid streams of high salinity or solid content containing different radionuclide types. Generally, the concentrations of nuclides in liquid wastes are extremely low. For example, 1000 Bq of 137 Cs makes about 3·10 -10 g of caesium. Therefore conventional precipitation cannot be applied since the solubility product value is not exceeded. The carriers which are capable to adsorb the nuclides are used to achieve the nuclide removal. Stable isotopes of the nuclide are usually added as the carriers but any reagent which has similar chemical specifications with the nuclide can also be used as the carrier. Precipitation of these non-radioactive carriers ion together with the radionuclide is called co-precipitation. The operational steps of the chemical precipitation process should be established and applied in a treatment facility. Thus, the most suitable carrier for a particular nuclide and its usage conditions are required to be determined. In this study, the carriers for removal of 137 Cs and uranium, their accurate amounts and usage conditions to achieve highest decontamination factors (DF) have been investigated. Residual sludge volumes were evaluated for cementation purposes. The cement composite samples were prepared for each set of experiments and hardening times were measured. 9 refs, 9 figs

  4. Renewable energy carriers: Hydrogen or liquid air/nitrogen?

    International Nuclear Information System (INIS)

    Li Yongliang; Chen Haisheng; Zhang Xinjing; Tan Chunqing; Ding Yulong

    2010-01-01

    The world's energy demand is met mainly by the fossil fuels today. The use of such fuels, however, causes serious environmental issues, including global warming, ozone layer depletion and acid rains. A sustainable solution to the issues is to replace the fossil fuels with renewable ones. Implementing such a solution, however, requires overcoming a number of technological barriers including low energy density, intermittent supply and mobility of the renewable energy sources. A potential approach to overcoming these barriers is to use an appropriate energy carrier, which can store, transport and distribute energy. The work to be reported in this paper aims to assess and compare a chemical energy carrier, hydrogen, with a physical energy carrier, liquid air/nitrogen, and discuss potential applications of the physical carrier. The ocean energy is used as an example of the renewable energy sources in the work. The assessment and comparison are carried out in terms of the overall efficiency, including production, storage/transportation and energy extraction. The environmental impact, waste heat recovery and safety issues are also considered. It is found that the physical energy carrier may be a better alternative to the chemical energy carrier under some circumstances, particularly when there are waste heat sources.

  5. Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers.

    Science.gov (United States)

    Dashti, S Ghazaleh; Buchanan, Daniel D; Jayasekara, Harindra; Ait Ouakrim, Driss; Clendenning, Mark; Rosty, Christophe; Winship, Ingrid M; Macrae, Finlay A; Giles, Graham G; Parry, Susan; Casey, Graham; Haile, Robert W; Gallinger, Steven; Le Marchand, Loïc; Thibodeau, Stephen N; Lindor, Noralane M; Newcomb, Polly A; Potter, John D; Baron, John A; Hopper, John L; Jenkins, Mark A; Win, Aung Ko

    2017-03-01

    Background: People with germline mutation in one of the DNA mismatch repair (MMR) genes have increased colorectal cancer risk. For these high-risk people, study findings of the relationship between alcohol consumption and colorectal cancer risk have been inconclusive. Methods: 1,925 MMR gene mutations carriers recruited into the Colon Cancer Family Registry who had completed a questionnaire on lifestyle factors were included. Weighted Cox proportional hazard regression models were used to estimate hazard ratios (HR) and 95% confidence intervals (CI) for the association between alcohol consumption and colorectal cancer. Results: Colorectal cancer was diagnosed in 769 carriers (40%) at a mean (SD) age of 42.6 (10.3) years. Compared with abstention, ethanol consumption from any alcoholic beverage up to 14 g/day and >28 g/day was associated with increased colorectal cancer risk (HR, 1.50; 95% CI, 1.09-2.07 and 1.69; 95% CI, 1.07-2.65, respectively; P trend = 0.05), and colon cancer risk (HR, 1.78; 95% CI, 1.27-2.49 and 1.94; 95% CI, 1.19-3.18, respectively; P trend = 0.02). However, there was no clear evidence for an association with rectal cancer risk. Also, there was no evidence for associations between consumption of individual alcoholic beverage types (beer, wine, spirits) and colorectal, colon, or rectal cancer risk. Conclusions: Our data suggest that alcohol consumption, particularly more than 28 g/day of ethanol (∼2 standard drinks of alcohol in the United States), is associated with increased colorectal cancer risk for MMR gene mutation carriers. Impact: Although these data suggested that alcohol consumption in MMR carriers was associated with increased colorectal cancer risk, there was no evidence of a dose-response, and not all types of alcohol consumption were associated with increased risk. Cancer Epidemiol Biomarkers Prev; 26(3); 366-75. ©2016 AACR . ©2016 American Association for Cancer Research.

  6. Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

    NARCIS (Netherlands)

    Brohet, Richard M.; Goldgar, David E.; Easton, Douglas F.; Antoniou, Antonis C.; Andrieu, Nadine; Chang-Claude, Jenny; Peock, Susan; Eeles, Rosalind A.; Cook, Margaret; Chu, Carol; Noguès, Catherine; Lasset, Christine; Berthet, Pascaline; Meijers-Heijboer, Hanne; Gerdes, Anne-Marie; Olsson, Håkan; Caldes, Trinidad; van Leeuwen, Flora E.; Rookus, Matti A.

    2007-01-01

    PURPOSE Earlier studies have shown that endogenous gonadal hormones play an important role in the etiology of breast cancer among BRCA1/2 mutation carriers. So far, little is known about the safety of exogenous hormonal use in mutation carriers. In this study, we examined the association between

  7. Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers.

    Science.gov (United States)

    Schade van Westrum, Steven; Dekker, Lukas; de Haan, Rob; Endert, Erik; Ginjaar, Ieke; de Visser, Marianne; van der Kooi, Anneke

    2013-07-16

    Cardiomyopathy is reported in Duchenne and Becker muscle dystrophy patients and female carriers. Brain Natriuretic peptide (BNP) is a hormone produced mainly by ventricular cardiomyocytes and its production is up regulated in reaction to increased wall stretching. N-terminal-proBNP (NT-proBNP) has been shown to be a robust laboratory parameter to diagnose and monitor cardiac failure, and it may be helpful to screen for asymptomatic left ventricular dysfunction. Therefore we tested whether NT-proBNP can distinguish patients with Duchenne or Becker muscular dystrophy patients and carriers of a dystrophin mutation with a dilated cardiomyopathy from those without. In a cohort of Duchenne and Becker muscle dystrophy patients (n = 143) and carriers (n = 219) NT-proBNP was measured, and echocardiography was performed to diagnose dilated cardiomyopathy (DCM). In total sixty-one patients (17%) fulfilled the criteria for DCM, whereas 283 patients (78%) had an elevated NT-pro BNP. The sensitivity of NT-proBNP for DCM in patients or carriers was 85%, the specificity 23%, area under the ROC-curve = 0.56. In the specified subgroups there was also no association. Measurement of NT-pro BNP in patients suffering from Duchenne or Becker muscular dystrophy and carriers does not distinguish between those with and without dilated cardiomyopathy.

  8. Enhanced Dissolution of a Porous Carrier-Containing Ternary Amorphous Solid Dispersion System Prepared by a Hot Melt Method.

    Science.gov (United States)

    Hanada, Masataka; Jermain, Scott V; Williams, Robert O

    2018-01-01

    The focus of our study was to employ a solvent-free, thermal process to evaluate the use of a porous carrier in a drug-polymer-porous carrier ternary formulation containing a high drug load (e.g., ≥50% w/w). The purpose of the study was to improve the dissolution properties of the biopharmaceutical classification system class II drug, indomethacin, in the ternary formulation. The effect that the selected polymer has on properties of the formulation was studied, and the formulation characteristics of hypromellose (AF15), copovidone (VA64), and polyvinyl alcohol-polyethylene glycol graft copolymer was evaluated to understand differences in dissolution rates and drug adsorption onto the porous carrier. The ternary formulations were manufactured using a thermal technique that relied on heating and mixing, without the necessity of mechanical shear. All thermally processed granules that employed the porous carrier exhibited immediate release compared with crystalline indomethacin and physical mixtures. In addition, the ternary formulations maintained supersaturation compared with the binary formulations without polymer. The results of this study indicated that the thermally processed ternary formulations containing a porous carrier demonstrated a much improved dissolution profile in nonsink conditions. Copyright © 2018 American Pharmacists Association®. Published by Elsevier Inc. All rights reserved.

  9. The impact of maternal HBsAg carrier status on pregnancy outcomes: a case-control study.

    Science.gov (United States)

    Tse, Ka Yu; Ho, Lai Fong; Lao, Terence

    2005-11-01

    To examine the impact of maternal HBsAg carrier status on pregnancy outcomes. Two hundred and fifty-three carriers of hepatitis B surface antigen (HBsAg) with singleton pregnancy, were retrospectively compared with 253 controls matched for age and parity and year of delivery. On univariable analysis, HBsAg carriers had higher incidences of threatened preterm labour at <37 weeks (11.9% vs. 6.3%, P=0.030), preterm birth at <34 weeks (4.7% vs. 1.2%, P=0.033), gestational diabetes mellitus (19.0% vs. 11.1%, P=0.012) and antepartum haemorrhage (11.5% vs. 5.5%, P=0.026). Their infants had lower Apgar scores at the 1st (8.47+/-1.67 vs. 8.87+/-1.07, P=0.001) and 5th minute (9.56+/-1.29 vs. 9.80+/-0.54, P=0.007), and increased incidence of intraventricular haemorrhage (4.7% vs. 0.8%, P=0.007). On multivariable analysis, the association between HBsAg carrier state with antepartum haemorrhage, gestational diabetes mellitus and threatened preterm labour were confirmed. HBsAg carriers have increased risk of gestational diabetes mellitus, antepartum haemorrhage, and threatened preterm labour. This may be related to the chronic inflammatory state in these subjects. The role of chronic HBV infection in pregnancy complications has to be further elucidated.

  10. Comparison between fluorescent in-situ hybridisation and array comparative genomic hybridisation in preimplantation genetic diagnosis in translocation carriers.

    Science.gov (United States)

    Lee, Vivian C Y; Chow, Judy F C; Lau, Estella Y L; Yeung, William S B; Ho, P C; Ng, Ernest H Y

    2015-02-01

    To compare the pregnancy outcome of the fluorescent in-situ hybridisation and array comparative genomic hybridisation in preimplantation genetic diagnosis of translocation carriers. Historical cohort. A teaching hospital in Hong Kong. All preimplantation genetic diagnosis treatment cycles performed for translocation carriers from 2001 to 2013. Overall, 101 treatment cycles for preimplantation genetic diagnosis in translocation were included: 77 cycles for reciprocal translocation and 24 cycles for Robertsonian translocation. Fluorescent in-situ hybridisation and array comparative genomic hybridisation were used in 78 and 11 cycles, respectively. The ongoing pregnancy rate per initiated cycle after array comparative genomic hybridisation was significantly higher than that after fluorescent in-situ hybridisation in all translocation carriers (36.4% vs 9.0%; P=0.010). The miscarriage rate was comparable with both techniques. The testing method (array comparative genomic hybridisation or fluorescent in-situ hybridisation) was the only significant factor affecting the ongoing pregnancy rate after controlling for the women's age, type of translocation, and clinical information of the preimplantation genetic diagnosis cycles by logistic regression (odds ratio=1.875; P=0.023; 95% confidence interval, 1.090-3.226). This local retrospective study confirmed that comparative genomic hybridisation is associated with significantly higher pregnancy rates versus fluorescent in-situ hybridisation in translocation carriers. Array comparative genomic hybridisation should be the technique of choice in preimplantation genetic diagnosis cycles in translocation carriers.

  11. Carbapenem-resistant Enterobacteriaceae colonization and infection in critically ill patients: a retrospective matched cohort comparison with non-carriers.

    Science.gov (United States)

    Dickstein, Y; Edelman, R; Dror, T; Hussein, K; Bar-Lavie, Y; Paul, M

    2016-09-01

    To examine whether carbapenem-resistant Enterobacteriaceae (CRE) carriage is associated with incidence of clinical infection as a means of assessing whether the morbidity and mortality associated with these bacteria are mediated by underlying conditions or intrinsic properties of CRE. This retrospective matched cohort study compared the incidence of invasive infections in CRE-colonized patients and matched non-carriers in the intensive care unit (ICU). The primary outcome was infection caused by CRE of the same species as the colonizing strain among CRE carriers, and infections caused by carbapenem-sensitive strains of the same organism in non-carriers. Hospital discharge and death were considered as competing events. Competing-risks hazard analysis was performed for the entire cohort and for a nested cohort matched by Acute Physiology and Chronic Health Evaluation (APACHE) II scores, stratified by matching. In total, 146 CRE carriers were compared with 292 non-carriers. Patients were well matched for most risk factors for Enterobacteriaceae infection, including age, renal failure, previous invasive infection, previous hospitalization, APACHE II score, length of mechanical ventilation, length of hospitalization and CRE carriage. On regression analysis, colonization with CRE was independently associated with Enterobacteriaceae infection {cause-specific hazard ratio (CSHR) 2.06 [95% confidence interval (CI) 1.03-4.09]}. On regression analysis of the APACHE-II-matched cohort (N=284), colonization with CRE remained significantly associated with Enterobacteriaceae infection [CSHR 3.32 (95% CI 1.31-8.43)]. Colonization with CRE was associated with at least a two-fold increased risk of infection by the colonizing strain amongst ICU patients. Copyright © 2016 The Healthcare Infection Society. Published by Elsevier Ltd. All rights reserved.

  12. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    DEFF Research Database (Denmark)

    Vigorito, Elena; Kuchenbaecker, Karoline B; Beesley, Jonathan

    2016-01-01

    Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2...... mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively...... of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest...

  13. Ultrafast carrier thermalization in lead iodide perovskite probed with two-dimensional electronic spectroscopy.

    Science.gov (United States)

    Richter, Johannes M; Branchi, Federico; Valduga de Almeida Camargo, Franco; Zhao, Baodan; Friend, Richard H; Cerullo, Giulio; Deschler, Felix

    2017-08-29

    In band-like semiconductors, charge carriers form a thermal energy distribution rapidly after optical excitation. In hybrid perovskites, the cooling of such thermal carrier distributions occurs on timescales of about 300 fs via carrier-phonon scattering. However, the initial build-up of the thermal distribution proved difficult to resolve with pump-probe techniques due to the requirement of high resolution, both in time and pump energy. Here, we use two-dimensional electronic spectroscopy with sub-10 fs resolution to directly observe the carrier interactions that lead to a thermal carrier distribution. We find that thermalization occurs dominantly via carrier-carrier scattering under the investigated fluences and report the dependence of carrier scattering rates on excess energy and carrier density. We extract characteristic carrier thermalization times from below 10 to 85 fs. These values allow for mobilities of 500 cm 2  V -1  s -1 at carrier densities lower than 2 × 10 19  cm -3 and limit the time for carrier extraction in hot carrier solar cells.Carrier-carrier scattering rates determine the fundamental limits of carrier transport and electronic coherence. Using two-dimensional electronic spectroscopy with sub-10 fs resolution, Richter and Branchi et al. extract carrier thermalization times of 10 to 85 fs in hybrid perovskites.

  14. Some remarks on the carrier distillation method; Quelques remarques sur la methode 'carrier distillation'

    Energy Technology Data Exchange (ETDEWEB)

    Avni, R; Chaput, M [Commissariat a l' Energie Atomique, Saclay (France). Centre d' Etudes Nucleaires

    1961-07-01

    The method described by SCRIBNER and MULLIN makes possible the spectrographic analysis of the refractory oxides of uranium and plutonium. It uses a distillation of the elements which is more or less selective. The influence of the carrier is the subject of as many hypotheses as there are parameters involved in the process. The measurements of the arc temperature carried out on the leading edges of the vibration bands and of certain copper lines have made it possible to show the influence of the nature of the carrier and to establish a relationship between the values of the excitation potentials of the atoms and the temperatures produced. Further, this result makes it possible to explain certain contradictions between the principle of a fractional distillation in the arc which is incompatible with the refractory properties of certain elements and their spectrographic sensitivity. (author) [French] La methode decrite par SCRIBNER et MULLIN permet l'analyse spectrographique des oxydes refractaires d'uranium et de plutonium. Elle fait appel a une distillation plus ou moins selective des elements. L'influence de l'entraineur est l'objet d'aussi nombreuses hypotheses que les parametres lies au phenomene. Les mesures de la temperature de l'arc, effectuees sur les tetes de bandes de vibration du cyanogene et certaines raies du cuivre ont permis de montrer l'influence de la nature de l'entraineur et de trouver une relation entre les valeurs des potentiels d'excitation des atomes et les temperatures produites. En outre, ce resultat permet d'expliquer certaines contradictions entre le principe d'une distillation fractionnee dans l'arc incompatible avec les proprietes refractaires de certains elements et leur sensibilite spectrographique. (auteur)

  15. Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

    Science.gov (United States)

    Renault, Anne-Laure; Mebirouk, Noura; Fuhrmann, Laetitia; Bataillon, Guillaume; Cavaciuti, Eve; Le Gal, Dorothée; Girard, Elodie; Popova, Tatiana; La Rosa, Philippe; Beauvallet, Juana; Eon-Marchais, Séverine; Dondon, Marie-Gabrielle; d'Enghien, Catherine Dubois; Laugé, Anthony; Chemlali, Walid; Raynal, Virginie; Labbé, Martine; Bièche, Ivan; Baulande, Sylvain; Bay, Jacques-Olivier; Berthet, Pascaline; Caron, Olivier; Buecher, Bruno; Faivre, Laurence; Fresnay, Marc; Gauthier-Villars, Marion; Gesta, Paul; Janin, Nicolas; Lejeune, Sophie; Maugard, Christine; Moutton, Sébastien; Venat-Bouvet, Laurence; Zattara, Hélène; Fricker, Jean-Pierre; Gladieff, Laurence; Coupier, Isabelle; Chenevix-Trench, Georgia; Hall, Janet; Vincent-Salomon, Anne; Stoppa-Lyonnet, Dominique; Andrieu, Nadine; Lesueur, Fabienne

    2018-04-17

    The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours. Morphology of ATM-associated tumours was compared with that of 599 patients with no BRCA1 and BRCA2 mutations from a hospital-based series, as well as with data from The Cancer Genome Atlas. Absolute copy number and loss of heterozygosity (LOH) profiles were obtained from the OncoScan SNP array. In addition, we performed whole-genome sequencing on four tumours from ATM loss-of-function variant carriers with available frozen material. We found that ATM-associated tumours belong mostly to the luminal B subtype, are tetraploid and show LOH at the ATM locus at 11q22-23. Unlike tumours in which BRCA1 or BRCA2 is inactivated, tumours arising in ATM deleterious variant carriers are not associated with increased large-scale genomic instability as measured by the large-scale state transitions signature. Losses at 13q14.11-q14.3, 17p13.2-p12, 21p11.2-p11.1 and 22q11.23 were observed. Somatic alterations at these loci may therefore represent biomarkers for ATM testing and harbour driver mutations in potentially 'druggable' genes that would allow patients to be directed towards tailored therapeutic strategies. Although ATM is involved in the DNA damage response, ATM-associated tumours are distinct from BRCA1-associated tumours in terms of morphological

  16. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

    Science.gov (United States)

    Lecarpentier, Julie; Silvestri, Valentina; Kuchenbaecker, Karoline B; Barrowdale, Daniel; Dennis, Joe; McGuffog, Lesley; Soucy, Penny; Leslie, Goska; Rizzolo, Piera; Navazio, Anna Sara; Valentini, Virginia; Zelli, Veronica; Lee, Andrew; Amin Al Olama, Ali; Tyrer, Jonathan P; Southey, Melissa; John, Esther M; Conner, Thomas A; Goldgar, David E; Buys, Saundra S; Janavicius, Ramunas; Steele, Linda; Ding, Yuan Chun; Neuhausen, Susan L; Hansen, Thomas V O; Osorio, Ana; Weitzel, Jeffrey N; Toss, Angela; Medici, Veronica; Cortesi, Laura; Zanna, Ines; Palli, Domenico; Radice, Paolo; Manoukian, Siranoush; Peissel, Bernard; Azzollini, Jacopo; Viel, Alessandra; Cini, Giulia; Damante, Giuseppe; Tommasi, Stefania; Peterlongo, Paolo; Fostira, Florentia; Hamann, Ute; Evans, D Gareth; Henderson, Alex; Brewer, Carole; Eccles, Diana; Cook, Jackie; Ong, Kai-Ren; Walker, Lisa; Side, Lucy E; Porteous, Mary E; Davidson, Rosemarie; Hodgson, Shirley; Frost, Debra; Adlard, Julian; Izatt, Louise; Eeles, Ros; Ellis, Steve; Tischkowitz, Marc; Godwin, Andrew K; Meindl, Alfons; Gehrig, Andrea; Dworniczak, Bernd; Sutter, Christian; Engel, Christoph; Niederacher, Dieter; Steinemann, Doris; Hahnen, Eric; Hauke, Jan; Rhiem, Kerstin; Kast, Karin; Arnold, Norbert; Ditsch, Nina; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Wand, Dorothea; Lasset, Christine; Stoppa-Lyonnet, Dominique; Belotti, Muriel; Damiola, Francesca; Barjhoux, Laure; Mazoyer, Sylvie; Van Heetvelde, Mattias; Poppe, Bruce; De Leeneer, Kim; Claes, Kathleen B M; de la Hoya, Miguel; Garcia-Barberan, Vanesa; Caldes, Trinidad; Perez Segura, Pedro; Kiiski, Johanna I; Aittomäki, Kristiina; Khan, Sofia; Nevanlinna, Heli; van Asperen, Christi J; Vaszko, Tibor; Kasler, Miklos; Olah, Edith; Balmaña, Judith; Gutiérrez-Enríquez, Sara; Diez, Orland; Teulé, Alex; Izquierdo, Angel; Darder, Esther; Brunet, Joan; Del Valle, Jesús; Feliubadalo, Lidia; Pujana, Miquel Angel; Lazaro, Conxi; Arason, Adalgeir; Agnarsson, Bjarni A; Johannsson, Oskar Th; Barkardottir, Rosa B; Alducci, Elisa; Tognazzo, Silvia; Montagna, Marco; Teixeira, Manuel R; Pinto, Pedro; Spurdle, Amanda B; Holland, Helene; Lee, Jong Won; Lee, Min Hyuk; Lee, Jihyoun; Kim, Sung-Won; Kang, Eunyoung; Kim, Zisun; Sharma, Priyanka; Rebbeck, Timothy R; Vijai, Joseph; Robson, Mark; Lincoln, Anne; Musinsky, Jacob; Gaddam, Pragna; Tan, Yen Y; Berger, Andreas; Singer, Christian F; Loud, Jennifer T; Greene, Mark H; Mulligan, Anna Marie; Glendon, Gord; Andrulis, Irene L; Toland, Amanda Ewart; Senter, Leigha; Bojesen, Anders; Nielsen, Henriette Roed; Skytte, Anne-Bine; Sunde, Lone; Jensen, Uffe Birk; Pedersen, Inge Sokilde; Krogh, Lotte; Kruse, Torben A; Caligo, Maria A; Yoon, Sook-Yee; Teo, Soo-Hwang; von Wachenfeldt, Anna; Huo, Dezheng; Nielsen, Sarah M; Olopade, Olufunmilayo I; Nathanson, Katherine L; Domchek, Susan M; Lorenchick, Christa; Jankowitz, Rachel C; Campbell, Ian; James, Paul; Mitchell, Gillian; Orr, Nick; Park, Sue Kyung; Thomassen, Mads; Offit, Kenneth; Couch, Fergus J; Simard, Jacques; Easton, Douglas F; Chenevix-Trench, Georgia; Schmutzler, Rita K; Antoniou, Antonis C; Ottini, Laura

    2017-07-10

    Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge-associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of BRCA1/2 mutations by constructing weighted polygenic risk scores (PRSs) using published effect estimates as weights. Results In male carriers of BRCA1/2 mutations, PRS that was based on 88 female breast cancer susceptibility variants was associated with breast cancer risk (odds ratio per standard deviation of PRS, 1.36; 95% CI, 1.19 to 1.56; P = 8.6 × 10 -6 ). Similarly, PRS that was based on 103 prostate cancer susceptibility variants was associated with prostate cancer risk (odds ratio per SD of PRS, 1.56; 95% CI, 1.35 to 1.81; P = 3.2 × 10 -9 ). Large differences in absolute cancer risks were observed at the extremes of the PRS distribution. For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively. Conclusion PRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.

  17. Cockroaches as carriers of human intestinal parasites in two localities in Ethiopia.

    Science.gov (United States)

    Kinfu, Addisu; Erko, Berhanu

    2008-11-01

    A study was undertaken to assess the role of cockroaches as potential carriers of human intestinal parasites in Addis Ababa and Ziway, Ethiopia. A total of 6480 cockroaches were trapped from the two localities from October 2006 to March 2007. All the cockroaches trapped in Addis Ababa (n=2240) and almost 50% (2100/4240) of those trapped in Ziway were identified as Blattella germanica. The rest of the cockroaches trapped in Ziway were identified as Periplaneta brunnea (24.52%), Pycnoscelus surinamensis (16.03%) and Supella longipalpa (9.90%). Microscopic examination of the external body washes of pooled cockroaches and individual gut contents revealed that cockroaches are carriers of Entamoeba coli and Entamoeba histolytica/dispar cysts as well as Enterobius vermicularis, Trichuris trichiura, Taenia spp. and Ascaris lumbricoides ova. Besides their role as a nuisance, the present study further confirms that cockroaches serve as carriers of human intestinal parasites. The possible association of cockroaches with allergic conditions such as asthma is also discussed. Hence, appropriate control measures should be taken particularly to make hotels and residential areas free of cockroaches as they represent a health risk.

  18. ENERGY EFFICIENCY, ENERGY SAVING POTENTIAL AND ENVIRONMENTAL IMPACT RESEARCH OF LPG CARRIER REFRIGERATION SYSTEM

    Directory of Open Access Journals (Sweden)

    V. О. Bedrosov

    2016-12-01

    Full Text Available Nowadays energy efficiency improvement and global warming are issues of current interest because of the natural resources depletion and extreme climate change. Thus, the problem of formation of strict regulations regarding emissions into the air arises. This paper presents the study of cascade refrigeration system for re-condensing of associated petroleum gas during sea transportation for LPG carrier. The structural optimization has been performed. LPG gas carriers with 266 000 m3 ethane capacity require 15 MW cascade refrigeration system for re-condensing if the temperature in the coastal LPG storage is -70°C, and the temperature for transported Ethan is maintained at  -75°C. For current storage conditions the required system cooling capacity is only 1,078 MW intended for the heat gain rejection from the environment during Ethane transportation. The replacement of ozone-depleting refrigerant R22 to alternative agents: R407C, R404A, R402A, R717, R290, R1270 was estimated. The results of analysis have shown that the proposed improvements can be used to optimize the LPG carrier cascade refrigeration system

  19. PEG-lipid micelles as drug carriers: physiochemical attributes, formulation principles and biological implication.

    Science.gov (United States)

    Gill, Kanwaldeep K; Kaddoumi, Amal; Nazzal, Sami

    2015-04-01

    PEG-lipid micelles, primarily conjugates of polyethylene glycol (PEG) and distearyl phosphatidylethanolamine (DSPE) or PEG-DSPE, have emerged as promising drug-delivery carriers to address the shortcomings associated with new molecular entities with suboptimal biopharmaceutical attributes. The flexibility in PEG-DSPE design coupled with the simplicity of physical drug entrapment have distinguished PEG-lipid micelles as versatile and effective drug carriers for cancer therapy. They were shown to overcome several limitations of poorly soluble drugs such as non-specific biodistribution and targeting, lack of water solubility and poor oral bioavailability. Therefore, considerable efforts have been made to exploit the full potential of these delivery systems; to entrap poorly soluble drugs and target pathological sites both passively through the enhanced permeability and retention (EPR) effect and actively by linking the terminal PEG groups with targeting ligands, which were shown to increase delivery efficiency and tissue specificity. This article reviews the current state of PEG-lipid micelles as delivery carriers for poorly soluble drugs, their biological implications and recent developments in exploring their active targeting potential. In addition, this review sheds light on the physical properties of PEG-lipid micelles and their relevance to the inherent advantages and applications of PEG-lipid micelles for drug delivery.

  20. Adopted Individuals' Views on the Utility and Value of Expanded Carrier Screening.

    Science.gov (United States)

    Spencer, Sara; Ewing, Sarah; Calcagno, Kathryn; O'Neill, Suzanne

    2018-03-30

    Adoptees may not have family medical history and ethnicity information. Carrier screening assesses reproductive risk. Expanded carrier screening (ECS) screens for many genetic conditions regardless of a patient's knowledge of family history and ethnicity. This study aimed to better understand the opinions and attitudes of adopted individuals on the use of ECS in determining a patient's reproductive genetic risks. Specifically, the study assessed how adopted individuals feel that results of ECS may be useful to them and whether adoptees feel that meeting with a genetics professional in the process of undergoing ECS would be useful. Adult adoptees (N = 124) were recruited online. Their opinions on ECS were explored. The majority reported they had never been offered carrier screening (92%). The majority of adoptees wanted ECS (76%). Neither the amount of contact with biological relatives nor having medical knowledge about biological relatives was significantly associated with adoptees' desire to pursue ECS. There was a significant positive correlation between adoptees of higher education levels and the amount they would pay for ECS (p = 0.004). The majority of participants (95%) indicated a genetics professional would be helpful when undergoing ECS. The findings suggest this population may want ECS and support from genetics healthcare professionals. Advocacy for genetic counseling and testing for adoptees appears justifiable.

  1. Longitudinal review of state-level accident statistics for carriers of interstate freight

    International Nuclear Information System (INIS)

    Saricks, C.; Kvitek, T.

    1994-03-01

    State-level accident rates by mode of freight transport have been developed and refined for application to the US Department of Energy's (DOE's) environmental mitigation program, which may involve large-quantity shipments of hazardous and mixed wastes from DOE facilities. These rates reflect multi-year data for interstate-registered highway earners, American Association of Railroads member carriers, and coastal and internal waterway barge traffic. Adjustments have been made to account for the share of highway combination-truck traffic actually attributable to interstate-registered carriers and for duplicate or otherwise inaccurate entries in the public-use accident data files used. State-to-state variation in rates is discussed, as is the stability of rates over time. Computed highway rates have been verified with actual carriers of high- and low-level nuclear materials, and the most recent truck accident data have been used, to ensure that the results are of the correct order of magnitude. Study conclusions suggest that DOE use the computed rates for the three modes until (1) improved estimation techniques for highway combination-truck miles by state become available; (2) continued evolution of the railroad industry significantly increases the consolidation of interstate rail traffic onto fewer high-capacity trunk lines; or (3) a large-scale off-site waste shipment campaign is imminent

  2. A CMOS microdisplay with integrated controller utilizing improved silicon hot carrier luminescent light sources

    Science.gov (United States)

    Venter, Petrus J.; Alberts, Antonie C.; du Plessis, Monuko; Joubert, Trudi-Heleen; Goosen, Marius E.; Janse van Rensburg, Christo; Rademeyer, Pieter; Fauré, Nicolaas M.

    2013-03-01

    Microdisplay technology, the miniaturization and integration of small displays for various applications, is predominantly based on OLED and LCoS technologies. Silicon light emission from hot carrier electroluminescence has been shown to emit light visibly perceptible without the aid of any additional intensification, although the electrical to optical conversion efficiency is not as high as the technologies mentioned above. For some applications, this drawback may be traded off against the major cost advantage and superior integration opportunities offered by CMOS microdisplays using integrated silicon light sources. This work introduces an improved version of our previously published microdisplay by making use of new efficiency enhanced CMOS light emitting structures and an increased display resolution. Silicon hot carrier luminescence is often created when reverse biased pn-junctions enter the breakdown regime where impact ionization results in carrier transport across the junction. Avalanche breakdown is typically unwanted in modern CMOS processes. Design rules and process design are generally tailored to prevent breakdown, while the voltages associated with breakdown are too high to directly interact with the rest of the CMOS standard library. This work shows that it is possible to lower the operating voltage of CMOS light sources without compromising the optical output power. This results in more efficient light sources with improved interaction with other standard library components. This work proves that it is possible to create a reasonably high resolution microdisplay while integrating the active matrix controller and drivers on the same integrated circuit die without additional modifications, in a standard CMOS process.

  3. Cell viability of mycorrhiza helper bacteria solid inoculant in different carrier material

    Science.gov (United States)

    Asyiah, Iis Nur; Hindersah, Reginawanti; Harni, Rita

    2018-02-01

    Roots of food crops are colonized by nonpathogenic mycorrhizal fungi which show natural ability to control plant pathogen. Mycorrhizal establishment in plant roots is affected by rhizobacteria, known as mycorrhiza helper bacteria (MHB), which has synergetic effects on mycorrhizal associations. Laboratory experiment has been conducted to assess the best carrier material to develop well-qualified MHB of Pseudomonas diminuta and Bacillus subtilis solid inoculant. Carrier materials were 100 mesh organic matter of agricultural waste. Different spore concentration of both bacterial liquid inoculants were grown on three kinds of 100-mesh organic matter and stored at room temperature up to 90 days. Cell viability of both MHB were counted by serial dilution plate method by using specific medium. The results showed that sugar cane baggase ash was the best carrier material to maintain cell viability for both MHB. However, the population of Pseudomonas diminuta and Bacillus subtilis in sugar cane baggase ash were slightly decreased after 90 days. The use of sugarcane baggase ash for solid MHB inoculant development could be suggested.

  4. Carrier Plus: A sensor payload for Living With a Star Space Environment Testbed (LWS/SET)

    Science.gov (United States)

    Marshall, Cheryl J.; Moss, Steven; Howard, Regan; LaBel, Kenneth A.; Grycewicz, Tom; Barth, Janet L.; Brewer, Dana

    2003-01-01

    The Defense Threat Reduction Agency (DTR4) and National Aeronautics and Space Administration (NASA) Goddard Space Flight Center are collaborating to develop the Carrier Plus sensor experiment platform as a capability of the Space Environments Testbed (SET). The Space Environment Testbed (SET) provides flight opportunities for technology experiments as part of NASA's Living With a Star (LWS) program. The Carrier Plus will provide new capability to characterize sensor technologies such as state-of-the-art visible focal plane arrays (FPAs) in a natural space radiation environment. The technical objectives include on-orbit validation of recently developed FPA technologies and performance prediction methodologies, as well as characterization of the FPA radiation response to total ionizing dose damage, displacement damage and transients. It is expected that the sensor experiment will carry 4-6 FPAs and associated radiation correlative environment monitors (CEMs) for a 2006-2007 launch. Sensor technology candidates may include n- and p-charge coupled devices (CCDs), active pixel sensors (APS), and hybrid CMOS arrays. The presentation will describe the Carrier Plus goals and objectives, as well as provide details about the architecture and design. More information on the LWS program can be found at http://lws.gsfc.nasa.gov/. Business announcements for LWS/SET and program briefings are posted at http://lws-set.gsfc.nasa.gov

  5. Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review

    Science.gov (United States)

    Wain, K.E.; Ellingson, M.S.; McDonald, J.; Gammon, A.; Roberts, M.; Pichurin, P.; Winship, I.; Riegert-Johnson, D.; Weitzel, J. N.; Lindor, N.M.

    2014-01-01

    Heterozygous loss-of-function (LOF) SMAD4 mutations are associated with juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT). Some carriers exhibit symptoms of both conditions, leading to the name JP-HHT syndrome. Three families have been reported with connective tissue abnormalities. In order to better understand the spectrum and extent of clinical findings in SMAD4 carriers, medical records of 34 patients (20 families) from five clinical practices were reviewed. Twenty-one percent (7/34) had features suggesting a connective tissue defect: enlarged aortic root (n=3), aortic and mitral insufficiency (n=2), aortic dissection (n=1), retinal detachment (n=1), brain aneurysms (n=1), lax skin and joints (n=1). JP-specific findings were almost uniformly present but variable. Ninety-seven percent had colon polyps that were generally pan-colonic and of variable histology and number. Forty-eight percent (15/31) had extensive gastric polyposis. HHT features were documented in 76% including epistaxis (19/31, 61%), mucocutaneous telangiectases (15/31, 48%), liver arteriovenous malformation (AVM) (6/16, 38%), brain AVM (1/26, 4%), pulmonary AVM (9/17, 53%), and intrapulmonary shunting (14/23, 61%). SMAD4 carriers should be managed for JP and HHT, since symptoms of both are likely yet unpredictable. Connective tissue abnormalities are an emerging component of JP-HHT syndrome, and larger studies are needed to understand these manifestations. PMID:24525918

  6. Electron microscopy characterization of a molybdenum diffusion barrier in metallizations for chip carriers

    International Nuclear Information System (INIS)

    He Anqiang; Ivey, Douglas G.

    2004-01-01

    Mo layers have been studied as potential diffusion barriers for Au-Sn solder bonds in micro/optoelectronic device packaging. Solder was electroplated as alternating AuSn and Au 5 Sn multi-layers on wafers covered with Ti as an adhesion layer, followed by Mo as the diffusion barrier and Au as a capping layer. Samples were annealed at 340-420 deg. C for as long as 20 min. Scanning and transmission electron microscopy (SEM and TEM) were utilized to characterize interfacial reactions. Mo was found to be metallurgically stable, relative to the Au-Sn solder and the other metallization components, at temperatures up to at least 420 deg. C. However, the effectiveness of Mo as a barrier can be compromised by two factors. One of these is related to surface roughness associated with AlN or Al 2 O 3 carriers. Non-uniform metallization coverage can lead to breaks in the Mo barrier, resulting in contact between the carrier and molten solder during bonding applications. In addition, thermal stresses generated during heating and cooling can lead to cracking and spalling of the Mo and adhesion layers, exposing the carrier material to molten solder. Pre-annealing can help to relieve the thermal stresses and prevent spalling

  7. Brain function in carriers of a genome-wide supported bipolar disorder variant.

    Science.gov (United States)

    Erk, Susanne; Meyer-Lindenberg, Andreas; Schnell, Knut; Opitz von Boberfeld, Carola; Esslinger, Christine; Kirsch, Peter; Grimm, Oliver; Arnold, Claudia; Haddad, Leila; Witt, Stephanie H; Cichon, Sven; Nöthen, Markus M; Rietschel, Marcella; Walter, Henrik

    2010-08-01

    The neural abnormalities underlying genetic risk for bipolar disorder, a severe, common, and highly heritable psychiatric condition, are largely unknown. An opportunity to define these mechanisms is provided by the recent discovery, through genome-wide association, of a single-nucleotide polymorphism (rs1006737) strongly associated with bipolar disorder within the CACNA1C gene, encoding the alpha subunit of the L-type voltage-dependent calcium channel Ca(v)1.2. To determine whether the genetic risk associated with rs1006737 is mediated through hippocampal function. Functional magnetic resonance imaging study. University hospital. A total of 110 healthy volunteers of both sexes and of German descent in the Hardy-Weinberg equilibrium for rs1006737. Blood oxygen level-dependent signal during an episodic memory task and behavioral and psychopathological measures. Using an intermediate phenotype approach, we show that healthy carriers of the CACNA1C risk variant exhibit a pronounced reduction of bilateral hippocampal activation during episodic memory recall and diminished functional coupling between left and right hippocampal regions. Furthermore, risk allele carriers exhibit activation deficits of the subgenual anterior cingulate cortex, a region repeatedly associated with affective disorders and the mediation of adaptive stress-related responses. The relevance of these findings for affective disorders is supported by significantly higher psychopathology scores for depression, anxiety, obsessive-compulsive thoughts, interpersonal sensitivity, and neuroticism in risk allele carriers, correlating negatively with the observed regional brain activation. Our data demonstrate that rs1006737 or genetic variants in linkage disequilibrium with it are functional in the human brain and provide a neurogenetic risk mechanism for bipolar disorder backed by genome-wide evidence.

  8. 49 CFR 385.303 - How does a motor carrier register with the FMCSA?

    Science.gov (United States)

    2010-10-01

    ... Washington, DC headquarters by mail at, Federal Motor Carrier Safety Administration, 1200 New Jersey Ave., SE... 49 Transportation 5 2010-10-01 2010-10-01 false How does a motor carrier register with the FMCSA...) FEDERAL MOTOR CARRIER SAFETY ADMINISTRATION, DEPARTMENT OF TRANSPORTATION FEDERAL MOTOR CARRIER SAFETY...

  9. Ultrafast carrier thermalization and cooling dynamics in few-layer MoS2.

    Science.gov (United States)

    Nie, Zhaogang; Long, Run; Sun, Linfeng; Huang, Chung-Che; Zhang, Jun; Xiong, Qihua; Hewak, Daniel W; Shen, Zexiang; Prezhdo, Oleg V; Loh, Zhi-Heng

    2014-10-28

    Femtosecond optical pump-probe spectroscopy with 10 fs visible pulses is employed to elucidate the ultrafast carrier dynamics of few-layer MoS2. A nonthermal carrier distribution is observed immediately following the photoexcitation of the A and B excitonic transitions by the ultrashort, broadband laser pulse. Carrier thermalization occurs within 20 fs and proceeds via both carrier-carrier and carrier-phonon scattering, as evidenced by the observed dependence of the thermalization time on the carrier density and the sample temperature. The n(-0.37 ± 0.03) scaling of the thermalization time with carrier density suggests that equilibration of the nonthermal carrier distribution occurs via non-Markovian quantum kinetics. Subsequent cooling of the hot Fermi-Dirac carrier distribution occurs on the ∼ 0.6 ps time scale via carrier-phonon scattering. Temperature- and fluence-dependence studies reveal the involvement of hot phonons in the carrier cooling process. Nonadiabatic ab initio molecular dynamics simulations, which predict carrier-carrier and carrier-phonon scattering time scales of 40 fs and 0.5 ps, respectively, lend support to the assignment of the observed carrier dynamics.

  10. Antitumor activity and carrier properties of novel hemocyanins coupled to a mimotope of GD2 ganglioside.

    Science.gov (United States)

    Palacios, Miriam; Tampe, Ricardo; Del Campo, Miguel; Zhong, Ta-Ying; López, Mercedes N; Salazar-Onfray, Flavio; Becker, María Inés

    2018-04-25

    Conjugation to carrier proteins is a way to improve the immunogenicity of peptides. Such is the case for peptides mimicking carbohydrate tumor-associated antigens in cancer vaccine development. The most used protein for this purpose is the keyhole limpet hemocyanin (KLH) from Megathura crenulata. Its limited bioavailability has prompted interest in finding new candidates; nevertheless, it is not known whether other hemocyanins might be equally efficient as carrier of carbohydrate peptide mimotopes to promotes anti-tumor responses. Here, we evaluated the carrier and antitumor activity of novel hemocyanins with documented immunogenicity obtained from Concholepas concholepas (CCH) and Fissurella latimarginata (FLH), coupled through sulfo-SMCC to P10, a mimetic peptide of GD2, the major ganglioside constituent of neuroectodermal tumors, and incorporating AddaVax as an adjuvant. The humoral immune responses of mice showed that CCH-P10 and FLH-P10 conjugates elicited specific IgM and IgG antibodies against P10 mimotope, similar to those obtained with KLH-P10, which was used as a positive control. The CCH-P10 and FLH-P10 antisera, exhibited cross-reactivity with murine and human melanoma cells, like anti-CCH and anti-FLH sera suggesting a cross-reaction of CCH and FLH glycosylations with carbohydrate epitopes on the tumor cell surfaces, similar to the KLH antisera. When mice were primed with each hemocyanin-P10 and challenged with melanoma cells, better antitumor effects were observed for FLH-P10 than for CCH-P10 and, as for KLH-P10, irrespective of conjugation. These data demonstrate that CCH and FLH are useful carriers of carbohydrate mimotopes; however, the best antitumor activity of FLH preparations, indicate that is a suitable candidate for further cancer vaccines research. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  11. General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey.

    Science.gov (United States)

    Smith, Samuel G; Foy, Robbie; McGowan, Jennifer; Kobayashi, Lindsay C; Burn, John; Brown, Karen; Side, Lucy; Cuzick, Jack

    2017-10-01

    A dose non-inferiority study comparing 100 mg, 300 mg and 600 mg of aspirin for cancer prevention among Lynch Syndrome carriers is underway (Colorectal Adenoma/Carcinoma Prevention Programme trial 3, CaPP3). To guide implementation of the findings, we investigated general practitioner (GP) attitudes towards aspirin prescribing for Lynch Syndrome carriers. We surveyed 1007 UK GPs (9.6% response rate). Using a within-subjects design, GPs read a statement on harms and benefits of aspirin and indicated their willingness to prescribe aspirin at three doses (100 mg, 300 mg, 600 mg). Approximately two-thirds (70.8%) of GPs had heard of Lynch Syndrome or its associated names, and among those 46.7% were aware of the cancer preventive effects of aspirin among carriers. Two-thirds (68.1%) of GPs reported feeling comfortable discussing harms and benefits of aspirin with a Lynch Syndrome patient. Willingness to prescribe was 91.3% at 100 mg, and declined to 81.8% at 300 mg and 62.3% at 600 mg (p Lynch Syndrome patient in practice (OR 1.44, 95% CI 1.01-2.05, p = 0.045). GPs report limited awareness of Lynch Syndrome and the preventive effects of aspirin among carriers. To ensure the optimal dose identified in the CaPP3 trial is readily available to patients, prescribing guidance and strategies to educate GPs should be developed.

  12. Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers

    Science.gov (United States)

    Finkelman, Brian S.; Rubinstein, Wendy S.; Friedman, Sue; Friebel, Tara M.; Dubitsky, Shera; Schonberger, Niecee Singer; Shoretz, Rochelle; Singer, Christian F.; Blum, Joanne L.; Tung, Nadine; Olopade, Olufunmilayo I.; Weitzel, Jeffrey N.; Lynch, Henry T.; Snyder, Carrie; Garber, Judy E.; Schildkraut, Joellen; Daly, Mary B.; Isaacs, Claudine; Pichert, Gabrielle; Neuhausen, Susan L.; Couch, Fergus J.; van't Veer, Laura; Eeles, Rosalind; Bancroft, Elizabeth; Evans, D. Gareth; Ganz, Patricia A.; Tomlinson, Gail E.; Narod, Steven A.; Matloff, Ellen; Domchek, Susan; Rebbeck, Timothy R.

    2012-01-01

    Purpose Mutations in BRCA1/2 dramatically increase the risk of both breast and ovarian cancers. Three mutations in these genes (185delAG, 5382insC, and 6174delT) occur at high frequency in Ashkenazi Jews. We evaluated how these common Jewish mutations (CJMs) affect cancer risks and risk reduction. Methods Our cohort comprised 4,649 women with disease-associated BRCA1/2 mutations from 22 centers in the Prevention and Observation of Surgical End Points Consortium. Of these women, 969 were self-identified Jewish women. Cox proportional hazards models were used to estimate breast and ovarian cancer risks, as well as risk reduction from risk-reducing salpingo-oophorectomy (RRSO), by CJM and self-identified Jewish status. Results Ninety-one percent of Jewish BRCA1/2-positive women carried a CJM. Jewish women were significantly more likely to undergo RRSO than non-Jewish women (54% v 41%, respectively; odds ratio, 1.87; 95% CI, 1.44 to 2.42). Relative risks of cancer varied by CJM, with the relative risk of breast cancer being significantly lower in 6174delT mutation carriers than in non-CJM BRCA2 carriers (hazard ratio, 0.35; 95% CI, 0.18 to 0.69). No significant difference was seen in cancer risk reduction after RRSO among subgroups. Conclusion Consistent with previous results, risks for breast and ovarian cancer varied by CJM in BRCA1/2 carriers. In particular, 6174delT carriers had a lower risk of breast cancer. This finding requires additional confirmation in larger prospective and population-based cohort studies before being integrated into clinical care. PMID:22430266

  13. Near-infrared free carrier absorption in heavily doped silicon

    International Nuclear Information System (INIS)

    Baker-Finch, Simeon C.; McIntosh, Keith R.; Yan, Di; Fong, Kean Chern; Kho, Teng C.

    2014-01-01

    Free carrier absorption in heavily doped silicon can have a significant impact on devices operating in the infrared. In the near infrared, the free carrier absorption process can compete with band to band absorption processes, thereby reducing the number of available photons to optoelectronic devices such as solar cells. In this work, we fabricate 18 heavily doped regions by phosphorus and boron diffusion into planar polished silicon wafers; the simple sample structure facilitates accurate and precise measurement of the free carrier absorptance. We measure and model reflectance and transmittance dispersion to arrive at a parameterisation for the free carrier absorption coefficient that applies in the wavelength range between 1000 and 1500 nm, and the range of dopant densities between ∼10 18 and 3 × 10 20  cm −3 . Our measurements indicate that previously published parameterisations underestimate the free carrier absorptance in phosphorus diffusions. On the other hand, published parameterisations are generally consistent with our measurements and model for boron diffusions. Our new model is the first to be assigned uncertainty and is well-suited to routine device analysis

  14. Strain engineering on transmission carriers of monolayer phosphorene.

    Science.gov (United States)

    Zhang, Wei; Li, Feng; Hu, Junsong; Zhang, Ping; Yin, Jiuren; Tang, Xianqiong; Jiang, Yong; Wu, Bozhao; Ding, Yanhuai

    2017-11-22

    The effects of uniaxial strain on the structure, band gap and transmission carriers of monolayer phosphorene were investigated by first-principles calculations. The strain induced semiconductor-metal as well as direct-indirect transitions were studied in monolayer phosphorene. The position of CBM which belonged to indirect gap shifts along the direction of the applied strain. We have concluded the change rules of the carrier effective mass when plane strains are applied. In band structure, the sudden decrease of band gap or the new formation of CBM (VBM) causes the unexpected change in carrier effective mass. The effects of zigzag and armchair strain on the effective electron mass in phosphorene are different. The strain along zigzag direction has effects on the electrons effective mass along both zigzag and armchair direction. By contrast, armchair-direction strain seems to affect only on the free electron mass along zigzag direction. For the holes, the effective masses along zigzag direction are largely affected by plane strains while the effective mass along armchair direction exhibits independence in strain processing. The carrier density of monolayer phosphorene at 300 K is calculated about [Formula: see text] cm -2 , which is greatly influenced by the temperature and strain. Strain engineering is an efficient method to improve the carrier density in phosphorene.

  15. Research on energy efficiency design index for sea-going LNG carriers

    Science.gov (United States)

    Lin, Yan; Yu, Yanyun; Guan, Guan

    2014-12-01

    This paper describes the characteristics of liquefied natural gas (LNG) carriers briefly. The LNG carrier includes power plant selection, vapor treatment, liquid cargo tank type, etc. Two parameters—fuel substitution rate and recovery of boil of gas (BOG) volume to energy efficiency design index (EEDI) formula are added, and EEDI formula of LNG carriers is established based on ship EEDI formula. Then, based on steam turbine propulsion device of LNG carriers, mathematical models of LNG carriers' reference line value are established in this paper. By verification, the EEDI formula of LNG carriers described in this paper can provide a reference for LNG carrier EEDI calculation and green shipbuilding.

  16. Nanostructured lipid carrier system for topical delivery of terbinafine hydrochloride

    Directory of Open Access Journals (Sweden)

    Bharti Gaba

    2015-12-01

    Full Text Available The main aim of the present study was to develop and evaluate Terbinafine HCl (TH-loaded nanostructured lipid carrier (NLC for the treatment of fungal infection via topical administration. Fungal infections are tremendously widespread and the treatments are effective but associated toxicities restrict their use. TH-NLC was prepared using high pressure homogenization technique using Glyceryl Monostearate (GMS as solid lipid, Labrasol as liquid lipid and Pluronic F-127 as surfactant, binary lipid phase was selected in the ratio 6:4 w/w (solid:liquid lipid ratio. The mean diameter of optimized TH-NLCs was found to be 128 ± 4.5 nm. Spherical shape and size were confirmed using scanning electron microscopy (SEM and transmission electron microscopy (TEM analyses. The in vitro release studies showed 92.60 ± 0.87% drug release over 24 h as compared to the marketed formulation which showed only 82.826 ± 0.29%. Ex vivo skin permeation study showed about 86.35% permeation however from the marketed formulation it showed 69.41%. The pharmacodynamic studies indicated that TH-NLC (771 ± 41.797 CFUs gel efficiently reduced the fungal burden in shorter duration of time as compared to marketed formulation (1558 ± 140.524 CFUs and dispersion (95,582 ± 2316.619 CFUs (p value > 0.001. Therefore, it can be concluded that the developed NLCs showed a sustained release pattern and reduction of fungal burden in the infected area. Hence, TH-NLC could be a potential alternative for treatment of topical fungal infection after clinical evaluation in near future.

  17. Molecular characterization of Staphylococcus aureus isolates from skin and soft tissue infections samples and healthy carriers in the Central Slovenia region.

    Science.gov (United States)

    Svent-Kucina, Natasa; Pirs, Mateja; Kofol, Romina; Blagus, Rok; Smrke, Dragica Maja; Bilban, Marjan; Seme, Katja

    2016-04-01

    Staphylococcus aureus is among the most important human pathogens. It is associated with different infections and is a major cause of skin and soft tissue infections (SSTIs). The aim of our study was to compare S. aureus isolates associated with SSTIs with isolates obtained from healthy carriers in the Central Slovenia region in terms of antimicrobial susceptibility, genetic diversity by clonal complex (CC)/sequence type, spa type, and by toxin gene profiling. In total, 274 S. aureus isolates were collected prospectively by culturing wound samples from 461 SSTI patients and nasal samples from 451 healthy carriers. We have demonstrated high heterogeneity in terms of CCs and spa type in both groups of isolates. The main clone among SSTI strains was Panton-Valentine leukocidin gene (pvl) positive CC121, whereas the main clone among carrier strains was CC45 carrying a large range of toxin genes. The main spa type in both groups was t091. Pvl was more frequently present in SSTI strains (31.2% SSTI vs 3.6% carrier strains) and staphylococcal enterotoxin C was more frequently present in carrier strains (1.6% SSTI vs 17.0% carrier strains). We have also demonstrated that methicillin-resistant S. aureus was a rare cause (2.8%) of SSTIs in our region. © 2016 APMIS. Published by John Wiley & Sons Ltd.

  18. Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel-Results from a Tertiary Child Developmental Center.

    Science.gov (United States)

    Gabis, Lidia V; Gruber, Noah; Berkenstadt, Michal; Shefer, Shahar; Attia, Odelia Leon; Mula, Dana; Cohen, Yoram; Elizur, Shai E

    2016-10-01

    Fragile X syndrome (FXS) is the most prevalent known genetically inherited cause for autism and intellectual disability. Premutation state can cause several clinical disorders as well. We aimed to perform a nesting approach to acquire data with regard to first degree relatives of index fragile X cases at the largest child development center in Israel in order to map characteristics of Israeli FXS permutation women carriers. Seventy-nine women were referred due to a related fragile X syndrome patient, mainly an offspring or sibling. General information regarding demographics, ethnicity, and associated medical conditions were collected using interviews and structured questionnaires. Thirteen (17 %) of the women who were referred as "carrier" were proven to be actually full mutation. The mean years of education were 14 (±1.51, range 12-17). Twenty-one women (27 %) originated from Tunisia (mainly from the island of Djerba). Ten women (13 %) reported delivery of their affected offspring beyond 41 gestational weeks. Twenty-two percent of women with premutation reported symptoms consistent with learning difficulties, mainly dyscalculia, and 14 % reported ADHD symptoms. Awareness about clinical disorders of the carriers was existent only in 25 % of the patients. Increased awareness and knowledge dissemination concerning premutation symptomatology and associated medical conditions are warranted. We suggest a national registry to be installed in different countries in order to identify fragile X premutation carriers at increased risk for various medical complications.

  19. Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management

    Directory of Open Access Journals (Sweden)

    Ramsoekh Dewkoemar

    2009-12-01

    Full Text Available Abstract Background Lynch syndrome (LS is associated with a high risk for colorectal cancer (CRC and extracolonic malignancies, such as endometrial carcinoma (EC. The risk is dependent of the affected mismatch repair gene. The aim of the present study was to calculate the cumulative risk of LS related cancers in proven MLH1, MSH2 and MSH6 mutation carriers. Methods The studypopulation consisted out of 67 proven LS families. Clinical information including mutation status and tumour diagnosis was collected. Cumulative risks were calculated and compared using Kaplan Meier survival analysis. Results MSH6 mutation carriers, both males and females had the lowest risk for developing CRC at age 70 years, 54% and 30% respectively and the age of onset was delayed by 3-5 years in males. With respect to endometrial carcinoma, female MSH6 mutation carriers had the highest risk at age 70 years (61% compared to MLH1 (25% and MSH2 (49%. Also, the age of EC onset was delayed by 5-10 years in comparison with MLH1 and MSH2. Conclusions Although the cumulative lifetime risk of LS related cancer is similar, MLH1, MSH2 and MSH6 mutations seem to cause distinguishable cancer risk profiles. Female MSH6 mutation carriers have a lower CRC risk and a higher risk for developing endometrial carcinoma. As a consequence, surveillance colonoscopy starting at age 30 years instead of 20-25 years is more suitable. Also, prophylactic hysterectomy may be more indicated in female MSH6 mutation carriers compared to MLH1 and MSH2 mutation carriers.

  20. Multipactor susceptibility on a dielectric with two carrier frequencies

    Science.gov (United States)

    Iqbal, Asif; Verboncoeur, John; Zhang, Peng

    2018-04-01

    This work investigates multipactor discharge on a single dielectric surface with two carrier frequencies of an rf electric field. We use Monte Carlo simulations and analytical calculations to obtain susceptibility diagrams in terms of the rf electric field and normal electric field due to the residual charge on the dielectric. It is found that in contrast to the single frequency case, in general, the presence of a second carrier frequency of the rf electric field increases the threshold of the magnitude of the rf electric field to initiate multipactor. The effects of the relative strength and phase, and the frequency separation of the two carrier frequencies are examined. The conditions to minimize mulitpactor are derived.

  1. [Drug delivery systems using nano-sized drug carriers].

    Science.gov (United States)

    Nakayama, Masamichi; Okano, Teruo

    2005-07-01

    Nanotechnology has attracted great attention all over the world in recent several years and has led to the establishment of the novel technical field of "nanomedicine" through collaboration with advanced medical technology. Particularly, site-specific drug targeting using particle drug carrier systems has made substantial progress and been actively developed. This review explains the essential factors (size and chemical character) of drug carriers to allow long circulation in the bloodstream avoiding the reticuloendothelial system, and shows the present status and future perspective of several types of nano-carrier systems (water-soluble polymer, liposome and polymeric micelle). We also introduce the novel concept of multi-targeting system (combination of two or more targeting methodologies) for ideal drug therapies.

  2. Active tuning of surface phonon polariton resonances via carrier photoinjection

    Science.gov (United States)

    Dunkelberger, Adam D.; Ellis, Chase T.; Ratchford, Daniel C.; Giles, Alexander J.; Kim, Mijin; Kim, Chul Soo; Spann, Bryan T.; Vurgaftman, Igor; Tischler, Joseph G.; Long, James P.; Glembocki, Orest J.; Owrutsky, Jeffrey C.; Caldwell, Joshua D.

    2018-01-01

    Surface phonon polaritons (SPhPs) are attractive alternatives to infrared plasmonics for subdiffractional confinement of infrared light. Localized SPhP resonances in semiconductor nanoresonators are narrow, but that linewidth and the limited extent of the Reststrahlen band limit spectral coverage. To address this limitation, we report active tuning of SPhP resonances in InP and 4H-SiC by photoinjecting free carriers into nanoresonators, taking advantage of the coupling between the carrier plasma and optic phonons to blueshift SPhP resonances. We demonstrate state-of-the-art tuning figures of merit upon continuous-wave excitation (in InP) or pulsed excitation (in 4H-SiC). Lifetime effects cause the tuning to saturate in InP, and carrier redistribution leads to rapid (electronic and phononic excitations.

  3. Carrier multiplication in silicon nanocrystals: ab initio results

    Directory of Open Access Journals (Sweden)

    Ivan Marri

    2015-02-01

    Full Text Available One of the most important goals in the field of renewable energy is the development of original solar cell schemes employing new materials to overcome the performance limitations of traditional solar cell devices. Among such innovative materials, nanostructures have emerged as an important class of materials that can be used to realize efficient photovoltaic devices. When these systems are implemented into solar cells, new effects can be exploited to maximize the harvest of solar radiation and to minimize the loss factors. In this context, carrier multiplication seems one promising way to minimize the effects induced by thermalization loss processes thereby significantly increasing the solar cell power conversion. In this work we analyze and quantify different types of carrier multiplication decay dynamics by analyzing systems of isolated and coupled silicon nanocrystals. The effects on carrier multiplication dynamics by energy and charge transfer processes are also discussed.

  4. Hydrogen as an energy carrier. 2. rev. and enlarged ed.

    International Nuclear Information System (INIS)

    Winter, C.J.; Nitsch, J.

    1991-01-01

    This book deals with the possibilities of an energetic utilisation of hydrogen. This energy carrier can be produced from the unlimited energy sources - solar energy, wind energy and hydropower - and from nuclear energy. It is also capable of one day supplementing or superseding the fossil energy carriers oil, coal and gas. What is special about the book is that it goes beyond a mere physical/technical description to discuss the economic and political aspects and ecological effects and requirements that are an essential part of sound energy planning today. Thus, the authors and editors outline the step-by-step development of a hydrogen economy, mainly based on solar energy, providing a solution to both the pollution problems caused by the use of fossil energy carriers and the energy requirements of the third world. (orig.) With 197 figs., 71 tabs

  5. Investigation of carrier removal in electron irradiated silicon diodes

    International Nuclear Information System (INIS)

    Taylor, S.J.; Yamaguchi, M.; Matsuda, S.; Hisamatsu, T.; Kawasaki, O.

    1997-01-01

    We present a detailed study of n + p p + silicon diodes irradiated with fluences of 1 MeV electrons high enough to cause device failure due to majority carrier removal. Capacitance voltage (C V) measurements were used to monitor the change in the carrier concentration of the base of the device as a function of radiation fluence. These were compared to the defect spectra in the same region obtained by deep level transient spectroscopy, and to the current voltage characteristics of the device, both before and after annealing. We observed the expected deep levels with activation energies of 0.18 and 0.36 eV, but the C endash V results imply that other trap levels must play a more important role in the carrier removal process. copyright 1997 American Institute of Physics

  6. Carrier for registration of optical images and holographic information

    International Nuclear Information System (INIS)

    Andries, A.; Bivol, V.; Iovu, M.

    2000-01-01

    The invention relates to the field of registration of optical information including the holographic one and may be used in the holography, cinematography, micro- and optical electronics, computer engineering. Summary of the invention consists in, that in the carrier containing a dielectric substrate on which there are placed in sequence the first electrode, photoinjection substrate, registration substrate of the chalcogenide vitreous semiconductor and the second electrode, the photoinjection substrate is fabricated of the monocrystalline germanium of the n-type conductivity and the relation of the registration substrate conductivity, during illumination to the photoinjection substrate conductivity in darkness is 0,001. The technical result consists in increasing the carrier photosensibility and in diffraction effectiveness of the information registered on the carrier

  7. Carrier population control and surface passivation in solar cells

    KAUST Repository

    Cuevas, Andres

    2018-05-02

    Controlling the concentration of charge carriers near the surface is essential for solar cells. It permits to form regions with selective conductivity for either electrons or holes and it also helps to reduce the rate at which they recombine. Chemical passivation of the surfaces is equally important, and it can be combined with population control to implement carrier-selective, passivating contacts for solar cells. This paper discusses different approaches to suppress surface recombination and to manipulate the concentration of carriers by means of doping, work function and charge. It also describes some of the many surface-passivating contacts that are being developed for silicon solar cells, restricted to experiments performed by the authors.

  8. Performance indicators for carrier-based DPIs: Carrier surface properties for capsule filling and API properties for in vitro aerosolisation.

    Science.gov (United States)

    Faulhammer, E; Zellnitz, S; Wutscher, T; Stranzinger, S; Zimmer, A; Paudel, A

    2018-01-30

    This study investigates engineered carrier, as well as engineered API particles, and shows that there are distinct performance indicators of particle engineering for carrier-based dry powder inhalers (DPIs). Spray dried (SDSS) and jet-milled (JMSS) salbutamol sulphate (SS) was blended with untreated α-lactose monohydrate (LAC_R) and α-lactose monohydrate engineered (LAC_E). Subsequent capsule filling was performed with different process settings on a dosator nozzle capsule filling machine in order to reach a target fill weight of 20-25 mg. To evaluate the performance of the different mixtures, in vitro lung deposition experiments were carried out with a next generation impactor, the emitted dose (ED) and fine particle fraction (FPF) were calculated based on the specification of the European pharmacopoeia. The FPF of micronised powder blends is significantly higher (20%) compared to the FPF of spray dried blends (5%). Compared to API engineering, carrier engineering had a positive effect on the capsule filling performance (weight variability and mean fill weight) at lower compression ratios (setting 1). Results further showed that higher compression ratios appear to be beneficial in terms of capsule filling performance (higher fill weight and less fill weight variation). Concluding, it can be stated that the carrier engineering, or generally carrier properties, govern downstream processing, whereas the API engineering and API properties govern the aerosolisation performance and thereby significantly affect the dose delivery to the lungs. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study.

    Science.gov (United States)

    Florian, Anca; Rösch, Sabine; Bietenbeck, Michael; Engelen, Markus; Stypmann, Jörg; Waltenberger, Johannes; Sechtem, Udo; Yilmaz, Ali

    2016-03-01

    Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked recessive disorders associated with both skeletal myopathy and progressive cardiomyopathy in males. Female DMD/BMD carriers (DMDc/BMDc) are mostly free of skeletal muscle symptoms, but they are also prone to cardiomyopathy. The aim of the current study was to characterize the frequency, pattern, and extent of cardiomyopathy in female DMD/BMD carriers (DMDc/BMDc) in comparison to their first-degree male MD relatives. Thirty-six (age 44 ± 14 years) female MD carriers (20 DMDc and 16 BMDc) constituted the 'MD carrier group' and were prospectively enrolled. All MD carriers underwent a complete CMR study comprising cine- and late gadolinium enhancement (LGE) imaging. In 22 of these women ('female MD carrier comparison group', 7 DMD and 15 BMD), at least one first-degree male relative with a previously established diagnosis of MD underwent the same CMR protocol and was assigned to the 'male MD comparison group' (n = 24, 6 DMD and 18 BMD). In the total MD carrier group, 17 (47%) MD carriers had at least one pathological CMR finding [5 (14%) with a reduced left ventricular ejection fraction (LV-EF) and 16 (44%) with the presence of LGE]. All LGE-positive patients (n = 16) showed non-ischaemic LGE with subepicardial involvement of the LV lateral free wall being the most frequent pattern (13/16, 81%). Compared with BMDc, DMDc demonstrated more frequently a pathological CMR result (65 vs. 19%; P = 0.008)--in spite of being significantly younger (40 ± 11 vs. 50 ± 16 years, P = 0.038). In the male MD comparison group, the same LGE pattern as in female carriers was seen, but with a significantly higher prevalence of cardiac abnormalities compared with their female carrier relatives constituting the female MD comparison group (75 vs. 27%; P = 0.003). Cardiac involvement is a frequent finding in female carriers of DMD, but less frequently observed in carriers of BMD. Those DMDc and BMDc with cardiac involvement

  10. Distribution of a pseudodeficiency allele among Tay-Sachs carriers

    Energy Technology Data Exchange (ETDEWEB)

    Tomczak, J.; Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Boogen, C. (Univ. of Essen Medical School (Germany))

    1993-08-01

    Recently Triggs-Raine et al. (1992) identified a new mutation in the gene coding for the [alpha]-subunit of [beta]-hexosaminidase A (hex A), the enzyme whose deficiency causes Tay-Sachs disease. This mutation, a C[sub 739]-to-T transition in exon 7, results in an altered enzyme that is active (albeit at reduced levels) in cells but that has essentially no activity in serum. This so-called pseudodeficient allele was first detected in compound heterozygotes who also carried a Tay-Sachs disease allele and therefore had no detectable hex A in their serum but who were in good health. Carriers of this apparently benign mutation are generally indistinguishable from carriers of a lethal mutation by means of routine enzyme-based screening tests, because the product of the pseudodeficient allele is not detectable in serum and has decreased activity in cells. This suggests that some individuals who have been classified as Tay-Sachs carriers are actually carriers of the pseudodeficient allele and are not at risk to have a child affected with Tay-Sachs disease. The pseudodeficient allele may also be responsible for some inconclusive diagnoses, where leukocyte values fall below the normal range but are still above the carrier range. The fact that there are now two mutant alleles (the psuedodeficient and the adult) that are indistinguishable from the lethal infantile mutations by means of enzyme assay yet that are phenotypically very different and that together may account for as much as 12% of enzyme-defined carriers on the basis of the data here suggests that DNA analysis should be part of a comprehensive screening program. It will be particularly useful to identify the mutations in couples at risk, before they undergo prenatal diagnosis. DNA analysis will also resolve some inconclusive diagnoses.

  11. Carrier-inside-carrier: polyelectrolyte microcapsules as reservoir for drug-loaded liposomes.

    Science.gov (United States)

    Maniti, Ofelia; Rebaud, Samuel; Sarkis, Joe; Jia, Yi; Zhao, Jie; Marcillat, Olivier; Granjon, Thierry; Blum, Loïc; Li, Junbai; Girard-Egrot, Agnès

    2015-01-01

    Conventional liposomes have a short life-time in blood, unless they are protected by a polymer envelope, most often polyethylene glycol. However, these stabilizing polymers frequently interfere with cellular uptake, impede liposome-membrane fusion and inhibit escape of liposome content from endosomes. To overcome such drawbacks, polymer-based systems as carriers for liposomes are currently developed. Conforming to this approach, we propose a new and convenient method for embedding small size liposomes, 30-100 nm, inside porous calcium carbonate microparticles. These microparticles served as templates for deposition of various polyelectrolytes to form a protective shell. The carbonate particles were then dissolved to yield hollow polyelectrolyte microcapsules. The main advantage of using this method for liposome encapsulation is that carbonate particles can serve as a sacrificial template for deposition of virtually any polyelectrolyte. By carefully choosing the shell composition, bioavailability of the liposomes and of the encapsulated drug can be modulated to respond to biological requirements and to improve drug delivery to the cytoplasm and avoid endosomal escape.

  12. Gettering improvements of minority-carrier lifetimesin solar grade silicon

    DEFF Research Database (Denmark)

    Osinniy, Viktor; Nylandsted Larsen, Arne; Dahl, Espen

    2012-01-01

    The minority-carrier lifetime in p-type solar-grade silicon (SoG-Si) produced by Elkem Solar was investigated after different types of heat treatment. Two groups of samples differing by the as-grown lifetimes were exposed to internal and phosphorus gettering using constant and variable temperature...... processes. Optimal heat-treatment parameters for each group of samples were then identified which improved the minority-carrier lifetimes to values higher than the minimum value needed for solar cells. Phosphorus gettering using a variable temperature process enhanced in particular the lifetime within each...

  13. Biotin Carboxyl Carrier Protein in Barley Chloroplast Membranes

    DEFF Research Database (Denmark)

    Kannangara, C. G.; Jense, C J

    1975-01-01

    Biotin localized in barley chloroplast lamellae is covalently bound to a single protein with an approximate molecular weight of 21000. It contains one mole of biotin per mole of protein and functions as a carboxyl carrier in the acetyl-CoA carboxylase reaction. The protein was obtained by solubil...... by solubilization of the lamellae in phenol/acetic acid/8 M urea. Feeding barley seedlings with [14C]-biotin revealed that the vitamin is not degraded into respiratory substrates by the plant, but is specifically incorporated into biotin carboxyl carrier protein....

  14. Southernmost carriers of HTLV-I/II in the world.

    Science.gov (United States)

    Cartier, L; Araya, F; Castillo, J L; Zaninovic, V; Hayami, M; Miura, T; Imai, J; Sonoda, S; Shiraki, H; Miyamoto, K

    1993-01-01

    To clarify the real distribution of HTLV-I and -II carriers among indigenous people in central and South America, blood samples collected from indigenous people in isolated regions of Southern Chile were examined. Among 199 inhabitants from Chiloe Island and Pitrufquen town, three cases (1.5%) showed positive anti-HTLV-I antibodies. Two out of the three (82-year-old male and 58-year-old female) reacted to HTLV-II-specific Gag and/or Env proteins but not to HTLV-I-specific ones. The latter case was confirmed as an HTLV-II carrier by polymerase chain reaction test.

  15. Evaluation of restoration mechanisms for future services using Carrier Ethernet

    DEFF Research Database (Denmark)

    Wessing, Henrik; Berger, Michael Stübert; Gestsson, H.M.

    2010-01-01

    In this paper, we evaluate and classify future service according to their requirements for delay, loss and bandwidth. The most demanding services include IPTV in different forms, hence IPTV is used as a representative for future services. Carrier Ethernet technologies are introduced with special...... focus on its OAM functionalities, and it is evaluated how IPTV performs in case of link failures on a Carrier Ethernet implementation. It is concluded that OAM update times of 10 ms is required to provide acceptable restoration performance in case of errors....

  16. The role of chain carriers in fusion reaction kinetics

    International Nuclear Information System (INIS)

    Harms, A.A.; Krenciglowa, E.M.

    1980-01-01

    The role of chain carriers as contributors to multiplicative closed cycles in advanced fusion fuels is examined. Emphasis is placed on rate processes which can be used to characterize critical/supercritical/subcritical tendencies of arbitrary closed fusion cycles. Temporal trajectories for the chain carriers which describe both increasing and decreasing multiplicative processes have been found to exist and identified according to their fusion fuel cycle characteristics. Practical criteria to ensure the attainment of steady-state fusion reaction processes have been formulated in terms of fusion reaction rate relationships. (author)

  17. Minority Carrier Lifetime Studies of Narrow Bandgap Antimonide Superlattices

    Science.gov (United States)

    Hoglund, Linda; Ting, David Z.; Khoshakhlagh, Arezou; Soibel, Alexander; Hill, Cory J.; Fisher, Anita; Keo, Sam; Gunapala, Sarath D.

    2014-01-01

    In this study optical modulation response and photoluminescence spectroscopy were used to study mid-wave Ga-free InAs/InAsSb superlattices. The minority carrier lifetimes in the different samples varied from 480 ns to 4700 ns, partly due to different background doping concentrations. It was shown that the photoluminescence intensity can be used as a fast non-destructive tool to predict the material quality. It was also demonstrated that it is crucial to use a low excitation power in the photoluminescence measurements in order to get a good correlation between the photoluminescence intensity and the minority carrier lifetime.

  18. Tunneling-assisted transport of carriers through heterojunctions.

    Energy Technology Data Exchange (ETDEWEB)

    Wampler, William R. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Myers, Samuel M. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Modine, Normand A. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2017-10-01

    The formulation of carrier transport through heterojunctions by tunneling and thermionic emission is derived from first principles. The treatment of tunneling is discussed at three levels of approximation: numerical solution of the one-band envelope equation for an arbitrarily specified potential profile; the WKB approximation for an arbitrary potential; and, an analytic formulation assuming constant internal field. The effects of spatially varying carrier chemical potentials over tunneling distances are included. Illustrative computational results are presented. The described approach is used in exploratory physics models of irradiated heterojunction bipolar transistors within Sandia's QASPR program.

  19. Disorder effect on carrier mobility in Fullerene organic semiconductor

    International Nuclear Information System (INIS)

    Mendil, N; Daoudi, M; Berkai, Z; Belghachi, A

    2015-01-01

    The critical factor that limits the efficiencies of organic electronic devices is the low charge carrier mobility which is attributed to disorder in organic films. In this context, we have studied the effects of disorder on carrier mobility in organic Schottky diode of electrons for the fullerene (C 60 ). Our results show that the mobility is sensitive probes of structural phase transitions and order-disorder underlying C 60 . Where it is one reason behind the low mobility which it take as value 1.4x10 -2 cm 2 /V.s above critical temperature Tc =289K. (paper)

  20. Charge carrier relaxation model in disordered organic semiconductors

    International Nuclear Information System (INIS)

    Lu, Nianduan; Li, Ling; Sun, Pengxiao; Liu, Ming

    2013-01-01

    The relaxation phenomena of charge carrier in disordered organic semiconductors have been demonstrated and investigated theoretically. An analytical model describing the charge carrier relaxation is proposed based on the pure hopping transport theory. The relation between the material disorder, electric field and temperature and the relaxation phenomena has been discussed in detail, respectively. The calculated results reveal that the increase of electric field and temperature can promote the relaxation effect in disordered organic semiconductors, while the increase of material disorder will weaken the relaxation. The proposed model can explain well the stretched-exponential law by adopting the appropriate parameters. The calculation shows a good agreement with the experimental data for organic semiconductors

  1. Autonomous Component Carrier Selection for 4G Femtocells

    DEFF Research Database (Denmark)

    Garcia, Luis Guilherme Uzeda; Kovacs, Istvan; Pedersen, Klaus

    2012-01-01

    main contribution in this paper, denominated Generalized Autonomous Component Carrier Selection (G-ACCS), is a distributed carrier-based inter-cell interference coordination scheme that represents one step towards cognitive radio networks. The algorithm relies on expected rather than sensed...... interference levels. This approach facilitates scheduler-independent decisions, however, it can lead to overestimation of the interference coupling among cells when the resources are not fully utilized. Acknowledging this fact, G-ACCS leverages the power domain to circumvent the restrictive nature of expected...

  2. Evaluation of carrier-mediated siRNA delivery

    DEFF Research Database (Denmark)

    Colombo, Stefano; Nielsen, Hanne Mørck; Foged, Camilla

    2013-01-01

    RNA delivery. An in vitro cell culture model system expressing enhanced green fluorescent protein (EGFP) was used to develop the assay, which was based on the intracellular quantification of a full-length double-stranded Dicer substrate siRNA by stem-loop RT qPCR. The result is a well-documented protocol......RNA delivered by use of carriers remains an analytical challenge. The purpose of the present study was to optimize and validate an analytical protocol based on stem-loop reverse transcription quantitative polymerase chain reaction (RT qPCR) to quantitatively monitor the carrier-mediated intracellular si...

  3. Adaptive Disturbance Rejection Control for Automatic Carrier Landing System

    Directory of Open Access Journals (Sweden)

    Xin Wang

    2016-01-01

    Full Text Available An adaptive disturbance rejection algorithm is proposed for carrier landing system in the final-approach. The carrier-based aircraft dynamics and the linearized longitudinal model under turbulence conditions in the final-approach are analyzed. A stable adaptive control scheme is developed based on LDU decomposition of the high-frequency gain matrix, which ensures closed-loop stability and asymptotic output tracking. Finally, simulation studies of a linearized longitudinal-directional dynamics model are conducted to demonstrate the performance of the adaptive scheme.

  4. Current Consumption Measurements with a Carrier Aggregation Smartphone

    DEFF Research Database (Denmark)

    Sanchez-Mejias, Rafael; Guo, Yu; Lauridsen, Mads

    2014-01-01

    on this topic. Currently there are only theoretical expansions of LTE release 8 power models available, but this article presents the first publicly available current consumption measurements on a commercial CA-capable UE. In this work it is examined how the activation and use of CA (10 + 10 MHz) affects the UE......Carrier Aggregation (CA) is introduced in LTE release 10 to improve data rates by allowing the User Equipment (UE) to receive data on more than one LTE carrier. The related increased complexity is expected to affect the UE current consumption, but yet no empirical evaluation has been published...

  5. Refractive index dispersion measurement using carrier-envelope phasemeters

    International Nuclear Information System (INIS)

    Hansinger, Peter; Töpfer, Philipp; Adolph, Daniel; Hoff, Dominik; Rathje, Tim; Sayler, A Max; Paulus, Gerhard G; Dimitrov, Nikolay; Dreischuh, Alexander

    2017-01-01

    We introduce a novel method for direct and accurate measurement of refractive index dispersion based on carrier-envelope phase detection of few-cycle laser pulses, exploiting the difference between phase and group velocity in a dispersive medium. In a layout similar to an interferometer, two carrier-envelope phasemeters are capable of measuring the dispersion of a transparent or reflective sample, where one phasemeter serves as the reference and the other records the influence of the sample. Here we report on proof-of-principle measurements that already reach relative uncertainties of a few 10 −4 . Further development is expected to allow for unprecedented precision. (paper)

  6. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    NARCIS (Netherlands)

    Vigorito, E.; Kuchenbaecker, K.B.; Beesley, J.; Adlard, J.; Agnarsson, B.A.; Andrulis, I.L.; Arun, B.K.; Barjhoux, L.; Belotti, M.; Benitez, J.; Berger, A.; Bojesen, A.; Bonanni, B.; Brewer, C.; Caldes, T.; Caligo, M.A.; Campbell, I.; Chan, S.B.; Claes, K.B.; Cohn, D.E.; Cook, J.; Daly, M.B.; Damiola, F.; Davidson, R.; Pauw, A. de; Delnatte, C.; Diez, O.; Domchek, S.M.; Dumont, M.; Durda, K.; Dworniczak, B.; Easton, D.F.; Eccles, D.; Edwinsdotter Ardnor, C.; Eeles, R.; Ejlertsen, B.; Ellis, S.; Evans, D.G.; Feliubadalo, L.; Fostira, F.; Foulkes, W.D.; Friedman, E.; Frost, D.; Gaddam, P.; Ganz, P.A.; Garber, J.; Garcia-Barberan, V.; Gauthier-Villars, M.; Gehrig, A.; Gerdes, A.M.; Giraud, S.; Godwin, A.K.; Goldgar, D.E.; Hake, C.R.; Hansen, T.V.; Healey, S.; Hodgson, S.; Hogervorst, F.B.; Houdayer, C.; Hulick, P.J.; Imyanitov, E.N.; Isaacs, C.; Izatt, L.; Izquierdo, A.; Jacobs, L; Jakubowska, A.; Janavicius, R.; Jaworska-Bieniek, K.; Jensen, U.B.; John, E.M.; Vijai, J.; Karlan, B.Y.; Kast, K.; Khan, S.; Kwong, A.; Laitman, Y.; Lester, J.; Lesueur, F.; Liljegren, A.; Lubinski, J.; Mai, P.L.; Manoukian, S.; Mazoyer, S.; Meindl, A.; Mensenkamp, A.R.; Montagna, M.; Nathanson, K.L.; Neuhausen, S.L.; Nevanlinna, H.; Niederacher, D.; Olah, E.; Olopade, O.I.; Ong, K.R.; Osorio, A.; Park, S.K.; Paulsson-Karlsson, Y.; Pedersen, I.S.; Peissel, B.; Peterlongo, P.; et al.,

    2016-01-01

    Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2

  7. Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Stevens, Kristen N; Wang, Xianshu; Fredericksen, Zachary

    2012-01-01

    Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. When combined, these variants can identify marked differe...

  8. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    DEFF Research Database (Denmark)

    Vigorito, Elena; Kuchenbaecker, Karoline B; Beesley, Jonathan

    2016-01-01

    Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 ...

  9. Male breast cancer in BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Silvestri, Valentina; Barrowdale, Daniel; Mulligan, Anna Marie

    2016-01-01

    BACKGROUND: BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs...... arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs). METHODS: We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1...

  10. A Model for Prediction of Propulsion Power and Emissions – Tankers and Bulk Carriers

    DEFF Research Database (Denmark)

    Lützen, Marie; Kristensen, Hans Otto Holmegaard

    To get an idea of the reduction in propulsion power and associated emissions by varying the speed and other ship design main parameters, a generic model for parameter studies of tankers and bulk carriers has been developed. With only a few input parameters of which the maximum deadweight capacity...... is the primary input a proposal for the main dimensions is made. Based on these dimensions and other ship particulars which are determined by the program the necessary installed propulsion power can be calculated. By adjusting the vessel design, i.e. the suggested main dimensions, and varying the speed...

  11. Haplotype analysis of TP53 polymorphisms, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent

    International Nuclear Information System (INIS)

    Cavallone, Luca; Arcand, Suzanna L; Maugard, Christine; Ghadirian, Parviz; Mes-Masson, Anne-Marie; Provencher, Diane; Tonin, Patricia N

    2008-01-01

    The TP53 polymorphisms Arg72Pro (Ex4+199 G>C) and Ins16 (IVS3+24 ins16) have been proposed to modify risk of breast cancer associated with germline BRCA1 and BRCA2 mutations. Allele frequencies of these polymorphisms were investigated to determine if they modify risk in BRCA mutation carriers in breast cancer cases drawn from French Canadian cancer families, a population shown to exhibit strong founder effects. The frequencies of the TP53 alleles, genotypes and haplotypes of 157 index breast cancer cases comprised of 42 BRCA1 mutation carriers, 57 BRCA2 mutation carriers, and 58 BRCA mutation-negative cases, where each case was drawn from independently ascertained families were compared. The effect of TP53 variants on the age of diagnosis was also investigated for these groups. The TP53 polymorphisms were also investigated in 112 women of French Canadian descent with no personal history of cancer. The BRCA mutation-positive groups had the highest frequency of homozygous carriers of the 72Pro allele compared with mutation-negative group. The TP53 polymorphisms exhibited linkage disequilibrium (p < 0.001), where the 72Arg and Ins16minus alleles occurred in strong disequilibrium. The highest frequency of carriers of Ins16minus-72Arg haplotype occurred in the BRCA mutation-negative groups. The BRCA1 mutation carriers homozygous for the 72Pro allele had the youngest ages of diagnosis of breast cancer. However none of these observations were statistically significant. In contrast, the BRCA2 mutation carriers homozygous for the 72Pro allele had a significantly older age of diagnosis of breast cancer (p = 0.018). Moreover, in this group, the mean age of diagnosis of breast cancer in carriers of the Ins16minus-72Arg haplotype was significantly younger than that of the individuals who did not this carry this haplotype (p = 0.009). We observed no significant association of breast cancer risk with TP53 genetic variants based on BRCA1/2 mutation carrier status. Although the

  12. The sensitivity of bit error rate (BER) performance in multi-carrier (OFDM) and single-carrier

    Science.gov (United States)

    Albdran, Saleh; Alshammari, Ahmed; Matin, Mohammad

    2012-10-01

    Recently, the single-carrier and multi-carrier transmissions have grabbed the attention of industrial systems. Theoretically, OFDM as a Multicarrier has more advantages over the Single-Carrier especially for high data rate. In this paper we will show which one of the two techniques outperforms the other. We will study and compare the performance of BER for both techniques for a given channel. As a function of signal to noise ratio SNR, the BER will be measure and studied. Also, Peak-to-Average Power Ratio (PAPR) is going to be examined and presented as a drawback of using OFDM. To make a reasonable comparison between the both techniques, we will use additive white Gaussian noise (AWGN) as a communication channel.

  13. Carrier-carrier scattering in the gain dynamics of InxGa1-xAs/AlyGa1-yAs diode lasers

    DEFF Research Database (Denmark)

    Sanders, Gary D; Sun, C.-K.; Golubovic, B.

    1996-01-01

    Ultrafast optical nonlinearities in semiconductors play a central role in determining transient amplification and pulse-dependent gain saturation in diode lasers. Both carrier-phonon and carrier-carrier scattering are expected to determine the gain dynamics in these systems. We present a relaxation......-Dirac function where the chemical potential and temperature are self-consistently chosen so that both particle number and energy are conserved in the carrier-carrier scattering process. The relaxation approximation makes the problem an effective one-dimensional problem which can then be solved directly...

  14. Carrier confinement in Ge/Si quantum dots grown with an intermediate ultrathin oxide layer

    Science.gov (United States)

    Kuryliuk, V.; Korotchenkov, O.; Cantarero, A.

    2012-02-01

    We present computational results for strain effects on charge carrier confinement in GexSi1-x quantum dots (QDs) grown on an oxidized Si surface. The strain and free carrier probability density distributions are obtained using the continuum elasticity theory and the effective-mass approximation implemented by a finite-element modeling scheme. Using realistic parameters and conditions for hemisphere and pyramid QDs, it is pointed out that an uncapped hemisphere dot deposited on the Si surface with an intermediate ultrathin oxide layer offers advantageous electron-hole separation distances with respect to a square-based pyramid grown directly on Si. The enhanced separation is associated with a larger electron localization depth in the Si substrate for uncapped hemisphere dots. Thus, for dot diameters smaller than 15-20 nm and surface density of the dots (nQD) ranging from about 1010 to 1012 cm-2, the localization depth may be enhanced from about 8 nm for a pyramid to 38 nm for a hemisphere dot. We find that the effect in a hemisphere dot is very sensitive to the dot density and size, whereas the localization depth is not significantly affected by the variation of the Ge fraction x in GexSi1-x and the aspect ratio of the dot. We also calculate the effect of the fixed oxide charge (Qox) with densities ranging from 10-9 to 10-7 C/cm2 for 10-Ωcm p-type Si wafers on the carrier confinement. Although the confinement potential can be strongly perturbed by the charge at nQD less than ≈4×1011 cm-2, it is not very sensitive to the value of Qox at higher nQD. Since, to our knowledge, there are no data on carrier confinement for Ge QDs deposited on oxidized Si surfaces, these results might be applicable to functional devices utilizing separated electrons and holes such as photovoltaic devices, spin transistors, and quantum computing components. The use of hemisphere QDs placed on oxidized Si rather than pyramid dots grown on bare Si may help to confine charge carriers deeper

  15. Liposomes as carriers of imaging agents

    International Nuclear Information System (INIS)

    Caride, V.J.

    1985-01-01

    This review discusses the utilization of liposomes as imaging agents or as vehicles for contrast materials. The initial approach was the use of radiolabeled liposomes for scintigraphy. To this end liposomes were either labeled in the lipid membrane or aqueous radiotracers were incorporated inside the lipid vesicles. The lipid labeling provides a more stable association of the radioactive tracer and the lipid vesicles, while the use of water-soluble radiotracers provides a wider selection of compounds. Early attempts at selective tumor imaging using radiolabeled liposomes were unsuccessful. The use of monoclonal antibodies attached to liposomes offers new hopes. Several strategies have been proposed in this respect and several others can be envisioned. The use of liposomes permits the use of several administration routes for imaging agents. Of particular interest is the subcutaneous administration for lymph node visualization. Liposomes offer clear advantages over most radiocontrast agents for prolonged hepatosplenic contrast enhancement. This is particularly relevant in the diagnostic evaluation of the abdomen with computed tomography. Important research efforts are being conducted in this area. Two different approaches have been advanced: the incorporation of contrast agents into liposomes and the preparation of radiopaque liposomes from radiodense lipids. Nuclear magnetic resonance imaging can also benefit from contrast agents. Several centers are investigating this exciting field using liposomes loaded with paramagnetic elements.152 references

  16. Optimization of territory control of the mail carrier by using Hungarian methods

    Science.gov (United States)

    Supian, S.; Wahyuni, S.; Nahar, J.; Subiyanto

    2018-03-01

    In this paper, the territory control of the mail carrier from the central post office Bandung in delivering the package to the destination location was optimized by using Hungarian method. Sensitivity analysis against data changes that may occur was also conducted. The sampled data in this study are the territory control of 10 mail carriers who will be assigned to deliver mail package to 10 post office delivery centers in Bandung. The result of this research is the combination of territory control optimal from 10 mail carriers as follows: mail carrier 1 to Cikutra, mail carrier 2 to Ujung Berung, mail carrier 3 to Dayeuh Kolot, mail carrier 4 to Padalarang, mail carrier 5 to Situ Saeur, mail carrier 6 to Cipedes, mail carrier 7 to Cimahi, mail carrier 8 to Soreang, mail carrier 9 to Asia-Afrika, mail carrier 10 to Cikeruh. Based on this result, manager of the central post office Bandung can make optimal decisions to assign tasks to their mail carriers.

  17. Low temperature carrier transport properties in isotopically controlled germanium

    Energy Technology Data Exchange (ETDEWEB)

    Itoh, Kohei [Univ. of California, Berkeley, CA (United States)

    1994-12-01

    Investigations of electronic and optical properties of semiconductors often require specimens with extremely homogeneous dopant distributions and precisely controlled net-carrier concentrations and compensation ratios. The previous difficulties in fabricating such samples are overcome as reported in this thesis by growing high-purity Ge single crystals of controlled 75Ge and 70Ge isotopic compositions, and doping these crystals by the neutron transmutation doping (NTD) technique. The resulting net-impurity concentrations and the compensation ratios are precisely determined by the thermal neutron fluence and the [74Ge]/[70Ge] ratios of the starting Ge materials, respectively. This method also guarantees unprecedented doping uniformity. Using such samples the authors have conducted four types of electron (hole) transport studies probing the nature of (1) free carrier scattering by neutral impurities, (2) free carrier scattering by ionized impurities, (3) low temperature hopping conduction, and (4) free carrier transport in samples close to the metal-insulator transition.

  18. 47 CFR 11.42 - Participation by communications common carriers.

    Science.gov (United States)

    2010-10-01

    ... may, without charge, connect: (1) An originating source from the nearest service area to a selected... Emergency Action Termination, the common carriers shall disconnect the originating source and the... charge, connect an originating source from the nearest exchange to a selected Test Center and then to any...

  19. Automatic carrier acquisition system for phase-lock-loop receivers

    Science.gov (United States)

    Bunce, R. C.

    1973-01-01

    Programmable oscillator and zero-beat detector acquires phase-lock of carrier by frequency scanning. Generation of high-level dc pulse at instant of zero crossing provides positive trigger for decision gate to stop search and close loop for phase-coherent tracking.

  20. Performance of polymer compositions as carrier to cowpea rhizobial ...

    African Journals Online (AJOL)

    ... was to evaluate inoculant formulations to cowpea (Vigna unguiculata L. Walp) containing polymers as carrier materials and rhizobial strains. To assess the efficiency of the new inoculants formulations, the rhizobial survival in inoculated and stored seeds and the field performance of a selected formulation were evaluated.