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1. Disease Burden in Patients with Glanzmann’s Thrombasthenia: Perspectives from the Glanzmann’s Thrombasthenia Patient/Caregiver Questionnaire

Author

Duncan A, Kellum A, Peltier S, Cooper DL, and Saad H

Subjects
bleeding disorder, psychosocial impact, recombinant activated factor vii, platelet transfusion, platelet antibodies, Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

Alexander Duncan,1 Angela Kellum,2 Skye Peltier,3 David L Cooper,4 Hossam Saad4 1Department of Pathology & Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA; 2Louisiana Center for Bleeding and Clotting Disorders, Tulane University, New Orleans, LA, USA; 3Center for Bleeding and Clotting Disorders, University of Minnesota Medical Center – Fairview, Minneapolis, MN, USA; 4Novo Nordisk Inc., Plainsboro, NJ, USACorrespondence: Alexander DuncanEmory University School of Medicine, Atlanta, GA, USATel +1 404 712 4637Fax +1 404 712 4632Email aduncan@emory.eduPurpose: Glanzmann’s thrombasthenia (GT) is a rare bleeding disorder caused by a mutation in the αIIbβ 3 integrin essential for optimal platelet function and hemostasis. The aim of this study was to identify the burden of GT on patients and caregivers through better understanding of the management and psychosocial impact of this disorder.Patients and Methods: Participants for this online survey were recruited using a rare disease specialty recruiter from Comprehensive Health Education Services. Data were collected from January 31 through March 12, 2019. The questionnaire was designed to collect information regarding demographics, diagnosis, treatment, and psychosocial impact.Results: Of the 45 respondents (24 patients and 21 caregivers), the majority were female (58%), white (64%), and employed full-time (53%) and had no family history of GT (64%). Many patients reported significant bruising at birth (76%), and the mean age at diagnosis was 2.6 years. About half of the patients experienced 1 bleed per day, and 13% had over 500 bleeds of any severity per year. Most bleeds were skin bruising or mouth bleeds, but patients also reported joint/muscle and gastrointestinal bleeds. Most patients reported receiving a platelet transfusion (82%), and some had developed platelet refractoriness (38%) or antibodies (32%). Common treatments were antifibrinolytics (82%) and recombinant activated factor VII (rFVIIa) (42%), likely due to the presence of antibodies. Many (58%) patients experienced issues with excessive bleeding at school; 38% reported missing school as a result. Female patients struggled to find a gynecologist with knowledge of the management of GT. Most patients were satisfied with the support they receive from their current partner (65%) and their friends (76%).Conclusion: Most patients with GT are diagnosed early. Patients experience considerable psychosocial impact. Patient and physician education concerning treatment alternatives and the support of the GT community are critical.Keywords: bleeding disorder, psychosocial impact, recombinant activated factor VII, platelet transfusion, platelet antibodies

Published
2020

2. Psychosocial Impact and Disease Management in Patients with Congenital Factor VII Deficiency

Author

Peltier S, Kellum A, Brewer J, Duncan A, Cooper DL, and Saad H

Subjects
bleeding disorder, psychosocial impact, recombinant activated factor vii, survey, Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

Skye Peltier,1 Angela Kellum,2 Janet Brewer,3 Alexander Duncan,4 David L Cooper,5 Hossam Saad5 1Center for Bleeding and Clotting Disorders, University of Minnesota Medical Center - Fairview, Minneapolis, MN, USA; 2Louisiana Center for Bleeding and Clotting Disorders, Tulane University, New Orleans, LA, USA; 3Comprehensive Health Education Services, Hanson, MA, USA; 4Department of Pathology & Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA; 5Novo Nordisk Inc., Plainsboro, NJ, USACorrespondence: Skye PeltierCenter for Bleeding and Clotting Disorders, University of Minnesota Medical Center – Fairview, Minneapolis, MN, USATel +1 612-273-5047Fax +1 612-273-5018Email speltie1@fairview.orgPurpose: Congenital factor VII (FVII) deficiency is a rare bleeding disorder of variable phenotype with predominantly mucocutaneous bleeding. The aim of this study was to identify the burden of FVII deficiency on patients and caregivers through a better understanding of the management and psychosocial impact of this disease.Materials and Methods: A rare disease specialty recruiter from Comprehensive Health Education Services recruited participants for this online survey, which was conducted from January 31 to March 12, 2019. A moderator-assisted questionnaire was used to collect data on demographics, diagnosis, treatment, and psychosocial impact.Results: Of the 45 respondents (25 patients and 20 caregivers), the majority were female (56%). Respondents reported a wide variety of initial bleeding symptoms, including bruising (58%), epistaxis (56%), and menorrhagia (36% of females). Because symptoms varied between individuals and were not always severe, diagnosis was often delayed. Mean time to obtain a diagnosis was 6.5 years and mean age at first diagnosis was 12.9 years. One-quarter (24%) of the respondents reported more than 100 bleeds of any severity over the previous year. When treating bleeds, 44% of patients reported using antifibrinolytics, and 42% reported using recombinant activated factor VII. Almost 31% of respondents reported missing schooldays as children, and 16% reported losing or resigning from a job in adulthood as a direct result of their disease. Notably, 29% of caregivers and 10% of their partners had also experienced issues with employment. Forty percent of respondents reported not participating in contact sports during childhood, and 22% continued to avoid contact sports in adulthood.Conclusion: Overall, FVII deficiency has a substantial psychosocial impact, but most patients are satisfied with their disease management and are optimistic about their future. Patients desire additional educational, social, and financial support.Keywords: bleeding disorder, psychosocial impact, recombinant activated factor VII, survey

Published
2020

3. Phenotypical variability in congenital FVII deficiency follows the ISTH-SSC severity classification guidelines: a review with illustrative examples from the clinic

Author

Jain S, Donkin J, Frey MJ, Peltier S, Gunawardena S, and Cooper DL

Subjects
blood coagulation disorders/classification, blood coagulation factors/physiology, humans’ rare diseases/classification, Severity of Illness Index, Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

Shilpa Jain,1,2 Jennifer Donkin,3 Mary-Jane Frey,4 Skye Peltier,5 Sriya Gunawardena,6 David L Cooper6 1Hemophilia Center of Western New York, Buffalo, NY, USA; 2Department of Pediatrics, Division of Pediatric Hematology-Oncology, John R. Oishei Children’s Hospital, University of Buffalo, Buffalo, NY, USA; 3Hemostasis and Thrombosis Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA; 4Children’s Hospital of Michigan, Detroit, MI, USA; 5Center for Bleeding and Clotting Disorders, University of Minnesota, Minneapolis, MN, USA; 6Clinical Development, Medical and Regulatory Affairs, Novo Nordisk Inc., Plainsboro, NJ, USA Background: One of the most common rare inherited bleeding disorders, congenital factor VII (FVII) deficiency typically has a milder bleeding phenotype than other rare bleeding disorders. Categorizing severity in terms of factor activity associated with hemophilia (severe

Published
2018

7. A Uniform and Isotropic Cytoskeletal Tiling Fills Dendritic Spines

Author

Eberhardt, F., Bushong, E. A., Phan, S., Peltier, S., Monteagudo-Mesas, P., Weinkauf, Tino, Herz, A. V. M., Stemmler, M., Ellisman, M., Eberhardt, F., Bushong, E. A., Phan, S., Peltier, S., Monteagudo-Mesas, P., Weinkauf, Tino, Herz, A. V. M., Stemmler, M., and Ellisman, M.

Abstract

Dendritic spines are submicron, subcellular compartments whose shape is defined by actin filaments and associated proteins. Accurately mapping the cytoskeleton is a challenge, given the small size of its components. It remains unclear whether the actin-associated structures analyzed in dendritic spines of neurons in vitro apply to dendritic spines of intact, mature neurons in situ. Here, we combined advanced preparative methods with multitilt serial section electron microscopy (EM) tomography and computational analysis to reveal the full three-dimensional (3D) internal architecture of spines in the intact brains of male mice at nanometer resolution. We compared hippocampal (CA1) pyramidal cells and cerebellar Purkinje cells in terms of the length distribution and connectivity of filaments, their branching-angles and absolute orientations, and the elementary loops formed by the network. Despite differences in shape and size across spines and between spine heads and necks, the internal organization was remarkably similar in both neuron types and largely homogeneous throughout the spine volume. In the tortuous mesh of highly branched and interconnected filaments, branches exhibited no preferred orientation except in the immediate vicinity of the cell membrane. We found that new filaments preferentially split off from the convex side of a bending filament, consistent with the behavior of Arp2/3-mediated branching of actin under mechanical deformation. Based on the quantitative analysis, the spine cytoskeleton is likely subject to considerable mechanical force in situ., QC 20230613

Published
2022
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9. The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism

Author

Di Martino, A, Yan, C-G, Li, Q, Denio, E, Castellanos, F X, Alaerts, K, Anderson, J S, Assaf, M, Bookheimer, S Y, Dapretto, M, Deen, B, Delmonte, S, Dinstein, I, Ertl-Wagner, B, Fair, D A, Gallagher, L, Kennedy, D P, Keown, C L, Keysers, C, Lainhart, J E, Lord, C, Luna, B, Menon, V, Minshew, N J, Monk, C S, Mueller, S, Müller, R-A, Nebel, M B, Nigg, J T, O'Hearn, K, Pelphrey, K A, Peltier, S J, Rudie, J D, Sunaert, S, Thioux, M, Tyszka, J M, Uddin, L Q, Verhoeven, J S, Wenderoth, N, Wiggins, J L, Mostofsky, S H, and Milham, M P

Published
2014
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13. Brainhack: a collaborative workshop for the open neuroscience community

Author

Craddock, R.C., Margulies, D.S., Bellec, P., Nichols, B.N., Alcauter, S., Barrios, F.A., Burnod, Y., Cannistraci, C.J., Cohen-Adad, J., Leener, B. De, Dery, S., Downar, J., Dunlop, K., Franco, A.R., Froehlich, C.S., Gerber, A.J., Ghosh, S.S., Grabowski, T.J., Hill, S., Heinsfeld, A.S, Hutchison, R.M., Kundu, P., Laird, A.R., Liew, S.L., Lurie, D.J., McLaren, D.G., Meneguzzi, F., Mennes, M.J.J., Mesmoudi, S., O'Connor, D., Pasaye, E.H., Peltier, S., Poline, J.B., Prasad, G., Pereira, R., Quirion, P.O., Rokem, A., Saad, Z.S., Shi, Y., Strother, S.C., Toro, R., Uddin, L.Q., Horn, J.D. van, Meter, J.W. van, Welsh, R.C., Xu, T., Craddock, R.C., Margulies, D.S., Bellec, P., Nichols, B.N., Alcauter, S., Barrios, F.A., Burnod, Y., Cannistraci, C.J., Cohen-Adad, J., Leener, B. De, Dery, S., Downar, J., Dunlop, K., Franco, A.R., Froehlich, C.S., Gerber, A.J., Ghosh, S.S., Grabowski, T.J., Hill, S., Heinsfeld, A.S, Hutchison, R.M., Kundu, P., Laird, A.R., Liew, S.L., Lurie, D.J., McLaren, D.G., Meneguzzi, F., Mennes, M.J.J., Mesmoudi, S., O'Connor, D., Pasaye, E.H., Peltier, S., Poline, J.B., Prasad, G., Pereira, R., Quirion, P.O., Rokem, A., Saad, Z.S., Shi, Y., Strother, S.C., Toro, R., Uddin, L.Q., Horn, J.D. van, Meter, J.W. van, Welsh, R.C., and Xu, T.

Abstract

Contains fulltext : 167121.pdf (publisher's version ) (Open Access), Brainhack events offer a novel workshop format with participant-generated content that caters to the rapidly growing open neuroscience community. Including components from hackathons and unconferences, as well as parallel educational sessions, Brainhack fosters novel collaborations around the interests of its attendees. Here we provide an overview of its structure, past events, and example projects. Additionally, we outline current innovations such as regional events and post-conference publications. Through introducing Brainhack to the wider neuroscience community, we hope to provide a unique conference format that promotes the features of collaborative, open science.

Published
2016

14. Accounting for dynamic fluctuations across time when examining fMRI test-retest reliability: Analysis of a reward paradigm in the EMBARC study

Author

Chase, HW, Fournier, JC, Greenberg, T, Almeida, JR, Stiffler, R, Zevallos, CR, Aslam, H, Cooper, C, Deckersbach, T, Weyandt, S, Adams, P, Toups, M, Carmody, T, Oquendo, MA, Peltier, S, Fava, M, McGrath, PJ, Weissman, M, Parsey, R, McInnis, MG, Kurian, B, Trivedi, MH, Phillips, ML, Chase, HW, Fournier, JC, Greenberg, T, Almeida, JR, Stiffler, R, Zevallos, CR, Aslam, H, Cooper, C, Deckersbach, T, Weyandt, S, Adams, P, Toups, M, Carmody, T, Oquendo, MA, Peltier, S, Fava, M, McGrath, PJ, Weissman, M, Parsey, R, McInnis, MG, Kurian, B, Trivedi, MH, and Phillips, ML

Abstract

Longitudinal investigation of the neural correlates of reward processing in depression may represent an important step in defining effective biomarkers for antidepressant treatment outcome prediction, but the reliability of reward-related activation is not well understood. Thirty-seven healthy control participants were scanned using fMRI while performing a reward-related guessing task on two occasions, approximately one week apart. Two main contrasts were examined: right ventral striatum (VS) activation fMRI BOLD signal related to signed prediction errors (PE) and reward expectancy (RE). We also examined bilateral visual cortex activation coupled to outcome anticipation. Significant VS PE-related activity was observed at the first testing session, but at the second testing session, VS PE-related activation was significantly reduced. Conversely, significant VS RE-related activity was observed at time 2 but not time 1. Increases in VS RE-related activity from time 1 to time 2 were significantly associated with decreases in VS PE-related activity from time 1 to time 2 across participants. Intraclass correlations (ICCs) in VS were very low. By contrast, visual cortex activation had much larger ICCs, particularly in individuals with high quality data. Dynamic changes in brain activation are widely predicted, and failure to account for these changes could lead to inaccurate evaluations of the reliability of functional MRI signals. Conventional measures of reliability cannot distinguish between changes specified by algorithmic models of neural function and noisy signal. Here, we provide evidence for the former possibility: reward-related VS activations follow the pattern predicted by temporal difference models of reward learning but have low ICCs.

Published
2015

18. N-3 polyunsaturated fatty acid deficiency markedly alters calcium and potassium fluxes in rat cardiomyocyte: correction by intravenous injection of a fish oil containing emulsion

Author

Peltier, S., Louchami, Karim, Portois, Laurence, Hacquebard, Mirjam, Malaisse, Willy, Carpentier, Yvon, Peltier, S., Louchami, Karim, Portois, Laurence, Hacquebard, Mirjam, Malaisse, Willy, and Carpentier, Yvon

Abstract

info:eu-repo/semantics/published, Comm. Am. Soc. Parenteral and Enteral Nutrit. - Chicago (USA), 10-02-2008

Published
2008

19. The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism

Author

Di Martino, A, primary, Yan, C-G, additional, Li, Q, additional, Denio, E, additional, Castellanos, F X, additional, Alaerts, K, additional, Anderson, J S, additional, Assaf, M, additional, Bookheimer, S Y, additional, Dapretto, M, additional, Deen, B, additional, Delmonte, S, additional, Dinstein, I, additional, Ertl-Wagner, B, additional, Fair, D A, additional, Gallagher, L, additional, Kennedy, D P, additional, Keown, C L, additional, Keysers, C, additional, Lainhart, J E, additional, Lord, C, additional, Luna, B, additional, Menon, V, additional, Minshew, N J, additional, Monk, C S, additional, Mueller, S, additional, Müller, R-A, additional, Nebel, M B, additional, Nigg, J T, additional, O'Hearn, K, additional, Pelphrey, K A, additional, Peltier, S J, additional, Rudie, J D, additional, Sunaert, S, additional, Thioux, M, additional, Tyszka, J M, additional, Uddin, L Q, additional, Verhoeven, J S, additional, Wenderoth, N, additional, Wiggins, J L, additional, Mostofsky, S H, additional, and Milham, M P, additional

Published
2013
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20. Long-chain fatty acyl coenzyme A inhibition of glucokinase in pancreatic islets from rats depleted in long-chain polyunsaturated ω3 fatty acids

Author

Zhang, Y., Bulur, Nurdan, Peltier, S., Carpentier, Yvon, Malaisse, Willy, Sener, Abdullah, Zhang, Y., Bulur, Nurdan, Peltier, S., Carpentier, Yvon, Malaisse, Willy, and Sener, Abdullah

Abstract

info:eu-repo/semantics/published, Comm. 43rd Annual Meeting of the European Association for the Study of Diabetes – Amsterdam (The Netherlands), 17.09.2007

Published
2007

23. L'administration en aiguë d'une émulsion lipidique enrichie en huile de poisson abolit l'effet délétère d'une carence en acides gras polyinsaturés ω3 lors de la reperfusion post-ischémique chez le rat

Author

Peltier, S., Malaisse, Willy, Demaison, L., Portois, Laurence, Berdeaux, O, Chardigny, Jean-Michel, Sébédio, Jean-Louis, Novel-Chate, Valérie, Carpentier, Yvon, Leverve, Xavier, Peltier, S., Malaisse, Willy, Demaison, L., Portois, Laurence, Berdeaux, O, Chardigny, Jean-Michel, Sébédio, Jean-Louis, Novel-Chate, Valérie, Carpentier, Yvon, and Leverve, Xavier

Abstract

Comm. 11ème Congrès International de l'Association des Chercheurs en Activités Physiques et Sportives (ACAPS) - Paris (France), 26.10.2005, info:eu-repo/semantics/published

Published
2005

24. Insulin resistance in adipocytes from ω3-fatty acid-depleted rats

Author

Oguzhan, BERRIN, Sancho, Verónica, Acitores, Alicia, Villanueva-Peñacarrillo, María Luisa, Peltier, S., Sébédio, Jean-Louis, Leverve, Xavier, Portois, Laurence, Chardigny, Jean-Michel, Sener, Abdullah, Malaisse, Willy, Carpentier, Yvon, Oguzhan, BERRIN, Sancho, Verónica, Acitores, Alicia, Villanueva-Peñacarrillo, María Luisa, Peltier, S., Sébédio, Jean-Louis, Leverve, Xavier, Portois, Laurence, Chardigny, Jean-Michel, Sener, Abdullah, Malaisse, Willy, and Carpentier, Yvon

Abstract

info:eu-repo/semantics/published, Comm. 41st Annual Meeting of the European Association for the Study of Diabetes - Athens (Greece), 10.09.2005

Published
2005

25. Acute in vivo administration of a fish oil emulsion abolishes the deleterious effect of a long term ω3 fatty acid deficiency in postischemic reperfusion of isolated rat hearts

Author

Peltier, S., Malaisse, Willy, Portois, Laurence, Demaison, L., Sébédio, Jean-Louis, Leverve, Xavier, Carpentier, Yvon, Peltier, S., Malaisse, Willy, Portois, Laurence, Demaison, L., Sébédio, Jean-Louis, Leverve, Xavier, and Carpentier, Yvon

Abstract

info:eu-repo/semantics/published, Comm. Am. Soc. Parenteral and Enteral Nutrit. - Dallas (USA) :12.12.2005

Published
2005

26. Correction of excessive triglyceride accumulation in the liver of ω-3 fatty acid-depleted rats by a single i.v. injection of a medium-chain triglyceride: fish oil emulsion

Author

Portois, Laurence, Peltier, S., Chardigny, Jean-Michel, Sébédio, Jean-Louis, Leverve, Xavier, Malaisse, Willy, Carpentier, Yvon, Portois, Laurence, Peltier, S., Chardigny, Jean-Michel, Sébédio, Jean-Louis, Leverve, Xavier, Malaisse, Willy, and Carpentier, Yvon

Abstract

info:eu-repo/semantics/published, Comm. 27th Congress of the European Society for Clinical Nutrition and Metabolism (ESPEN) - Brussels, 28.08.2005

Published
2005

27. Rapid incorporation of long-chain polyunsaturated ω3 fatty acids and lowering of triglycerides in the liver of ω3-depleted rats injected with a medium-chain triglyceride: fish oil emulsion

Author

Portois, Laurence, Peltier, S., Chardigny, Jean-Michel, Sébédio, Jean-Louis, Leverve, Xavier, Malaisse, Willy, Carpentier, Yvon, Portois, Laurence, Peltier, S., Chardigny, Jean-Michel, Sébédio, Jean-Louis, Leverve, Xavier, Malaisse, Willy, and Carpentier, Yvon

Abstract

info:eu-repo/semantics/published, Comm. Meeting of the Belgian Society of Fundamental and Clinical Physiology and Pharmacology – Brussels, 23.04.2005

Published
2005

28. L'administration in vivo d'une émulsion lipidique enrichie en huile de poisson améliore la fonction cardiaque post-ischémique de rats carencés en acides gras polyinsaturés n-3

Author

Peltier, S., Malaisse, Willy, Portois, Laurence, Novel-Chate, Valérie, Chardigny, Jean-Michel, Carpentier, Yvon, Peltier, S., Malaisse, Willy, Portois, Laurence, Novel-Chate, Valérie, Chardigny, Jean-Michel, and Carpentier, Yvon

Abstract

info:eu-repo/semantics/published, Comm. 24ème Congrès de la Société Française de Nutrition Entérale et Parentérale (SFNEP) - Bordeaux (France), 30.11.2005

Published
2005

36. Effects of nanofiltration on water quality in the distribution system

Author

Peltier, S., Benezet, M., Gatel, D., Cavard, J., Servais, Pierre, Peltier, S., Benezet, M., Gatel, D., Cavard, J., and Servais, Pierre

Abstract

Reduction of dissolved organic carbon (DOC) in drinking water treatment lines is today a priority of drinking water producers. A nanofiltration (NF) treatment was introduced with this objective during autumn 1999 in the Méry-sur-Oise treatment plant which feeds the northern Parisian suburbs distribution system. This study compares the water quality in the distribution system, first fed by a biological treatment line and then by the line including NF. Data confirmed the capability of NF treatment to produce drinking water with a low DOC content (average 0.5 mgC l−1) from surface water. The reduction of DOC concentration in water treated by NF, in comparison with the DOC content of water produced by the biological treatment line, increased chlorine stability during distribution and thus allowed a decrease in the chlorination level (chlorine residual at the outlet of the plant: 0.2 mgCl2 l−1). This resulted in a more than 50% reduction of trihalomethanes (THMs) formation. By reducing the biodegradable fraction of DOC (BDOC), NF also increased biological stability of the water and the microbiological water quality during distribution. In addition, the NF treatment allowed an increase in the physico-chemical water quality: reduction of the alkalinity, turbidity, aluminium and atrazine concentration. A survey comparing the opinions of consumers on their tap water indicated a better global appreciation after introduction of the NF treatment., info:eu-repo/semantics/published

Published
2002

38. A New Type of Detector for Electron Microscopy

Author

Xuong, N H, primary, Milazzo, A C, additional, Peltier, S, additional, Leblanc, P, additional, Duttweiler, F, additional, Jin, L, additional, Bouwer, J C, additional, Ellisman, M, additional, and Kleinfelder, S, additional

Published
2005
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48. Mapping of a gene for long QT syndrome to chromosome 4q25-27

Author

jean-Jacques Schott, Charpentier, F., Peltier, S., Foley, P., Drouin, E., Bouhour, Jb, Donnelly, P., Vergnaud, G., Bachner, L., Moisan, Jp, Lemarec, H., Pascal, O., unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Institut de Mécanique et d'Ingénierie de Bordeaux (I2M), Institut National de la Recherche Agronomique (INRA)-Université de Bordeaux (UB)-École Nationale Supérieure d'Arts et Métiers (ENSAM), Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM)-Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM)-Institut Polytechnique de Bordeaux-Centre National de la Recherche Scientifique (CNRS), Université de Poitiers, Institut National de l'Environnement Industriel et des Risques (INERIS), Tumeurs endocrines digestives : mécanismes de la tumorigenèse et de la progression tumorale, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Statistics [Oxford], University of Oxford [Oxford], Institut de génétique et microbiologie [Orsay] (IGM), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), École Nationale Supérieure de Techniques Avancées (ENSTA Paris), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), École Nationale Supérieure d'Arts et Métiers (ENSAM), and HESAM Université (HESAM)-HESAM Université (HESAM)-Institut Polytechnique de Bordeaux-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Institut National de la Recherche Agronomique (INRA)

Subjects
Long QT Syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Genetic Linkage, [SDV]Life Sciences [q-bio], Chromosome Mapping, Humans, Original Articles, cardiovascular diseases, Chromosomes, Human, Pair 4, Lod Score, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Long QT syndrome (LQTS) is a heterogeneous inherited disorder causing syncope and sudden death from ventricular arrhythmias. A first locus for this disorder was mapped to chromosome 11p15.5. However, locus heterogeneity has been demonstrated in several families, and two other loci have recently been located on chromosomes 7q35-36 and 3p21-24. We used linkage analysis to map the locus in a 65-member family in which LQTS was associated with more marked sinus bradycardia than usual, leading to sinus node dysfunction. Linkage to chromosome 11p15.5, 7q35-36, or 3p21-24 was excluded. Positive linkage was obtained for markers located on chromosome 4q25-27. A maximal LOD score of 7.05 was found for marker D4S402. The identification of a fourth locus for LQTS confirms its genetic heterogeneity. Locus 4q25-27 is associated with a peculiar phenotype within the LQTS entity.

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