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465 results on '"Alessi, M.-C."'

64. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Author

Simeoni, I., Stephens, J.C., Hu, F., Deevi, S.V.V., Megy, K., Bariana, T.K., Lentaigne, C., Schulman, S., Sivapalaratnam, S., Vries, M.J.A., Westbury, S.K., Greene, D., Papadia, S., Alessi, M-C, Attwood, A.P., Ballmaier, M., Baynam, G., Bermejo, E., Bertoli, M., Bray, P.F., Bury, L., Cattaneo, M., Collins, P., Daugherty, L.C., Favier, R., French, D.L., Furie, B., Gattens, M., Germeshausen, M., Ghevaert, C., Goodeve, A.C., Guerrero, J.A., Hampshire, D.J., Hart, D.P., Heemskerk, J.W.M., Henskens, Y.M.C., Hill, M., Hogg, N., Jolley, J.D., Kahr, W.H., Kelly, A.M., Kerr, R., Kostadima, M., Kunishima, S., Lambert, M.P., Liesner, R., Lopez, J.A., Mapeta, R.P., Mathias, M., Millar, C.M., Nathwani, A., Neerman-Arbez, M., Nurden, A.T., Nurden, P., Othman, M., Peerlinck, K., Perry, D.J., Poudel, P., Reitsma, P., Rondina, M.T., Smethurst, P.A., Stevenson, W., Szkotak, A., Tuna, S., van Geet, C., Whitehorn, D., Wilcox, D.A., Zhang, B., Revel-Vilk, S., Gresele, P., Bellissimo, D.B., Penkett, C.J., Laffan, M.A., Mumford, A.D., Rendon, A., Gomez, K., Freson, K., Ouwehand, W.H., Turro, E., Simeoni, I., Stephens, J.C., Hu, F., Deevi, S.V.V., Megy, K., Bariana, T.K., Lentaigne, C., Schulman, S., Sivapalaratnam, S., Vries, M.J.A., Westbury, S.K., Greene, D., Papadia, S., Alessi, M-C, Attwood, A.P., Ballmaier, M., Baynam, G., Bermejo, E., Bertoli, M., Bray, P.F., Bury, L., Cattaneo, M., Collins, P., Daugherty, L.C., Favier, R., French, D.L., Furie, B., Gattens, M., Germeshausen, M., Ghevaert, C., Goodeve, A.C., Guerrero, J.A., Hampshire, D.J., Hart, D.P., Heemskerk, J.W.M., Henskens, Y.M.C., Hill, M., Hogg, N., Jolley, J.D., Kahr, W.H., Kelly, A.M., Kerr, R., Kostadima, M., Kunishima, S., Lambert, M.P., Liesner, R., Lopez, J.A., Mapeta, R.P., Mathias, M., Millar, C.M., Nathwani, A., Neerman-Arbez, M., Nurden, A.T., Nurden, P., Othman, M., Peerlinck, K., Perry, D.J., Poudel, P., Reitsma, P., Rondina, M.T., Smethurst, P.A., Stevenson, W., Szkotak, A., Tuna, S., van Geet, C., Whitehorn, D., Wilcox, D.A., Zhang, B., Revel-Vilk, S., Gresele, P., Bellissimo, D.B., Penkett, C.J., Laffan, M.A., Mumford, A.D., Rendon, A., Gomez, K., Freson, K., Ouwehand, W.H., and Turro, E.

Abstract

Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large copy number variants (though not inversions) which are subjected to automated filtering for diagnostic prioritization, resulting in an average of 5.34 candidate variants per individual. We sequenced 159 and 137 samples, respectively, from cases with and without previously known causal variants. Among the latter group, 61 cases had clinical and laboratory phenotypes indicative of a particular molecular etiology, whereas the remainder had an a priori highly uncertain etiology. All previously detected variants were recapitulated and, when the etiology was suspected but unknown or uncertain, a molecular diagnosis was reached in 56 of 61 and only 8 of 76 cases, respectively. The latter category highlights the need for further research into novel causes of BPDs. The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD.

Published
2016

66. Genetic risk factors for venous thrombosis in women using combined oral contraceptives: update of the PILGRIM study.

Author

Suchon, P., Al Frouh, F., Ibrahim, M., Sarlon, G., Venton, G., Alessi, M.‐C., Trégouët, D.‐A., and Morange, P.‐E.

Subjects
VENOUS thrombosis risk factors, DISEASES in women, MEDICAL genetics, PHYSIOLOGICAL effects of oral contraceptives, GYNECOLOGIC drugs
Abstract

Identifying women at risk of venous thrombosis ( VT) under combined oral contraceptives ( COC) is a major public health issue. The aim of this study was to investigate in COC users the impact on disease of genetic polymorphisms recently identified to associate with VT risk in the general population. Nine polymorphisms located on KNG1, F11, F5, F2, PROCR, FGG, TSPAN and SLC44A2 genes were genotyped in a sample of 766 patients and 464 controls as part of the PILGRIM (PILl Genetic Risk Monitoring) study. Cases were women who experienced an episode of documented VT during COC use, while controls were women with no history of VT using COC at the time of inclusion. Among the studied polymorphisms, only F11 rs2289252 was significantly associated with VT. The F11 rs2289252-A allele was associated with a 1.6-fold increased risk of VT (p < 0.0001). Besides, the combination of the rs2289252-A allele with non-O blood group, present in 52% of the cohort, was associated with an odds ratio of 4.00 (2.49-6.47; p < 10−4). The consideration of this genetic risk factor could help to better assess the risk of VT in COC users. [ABSTRACT FROM AUTHOR]

Published
2017
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77. O79 Rôle du CD28 dans le développement de l’état inflammatoire et des complications métaboliques associés à l’obésité

Author

Poggi, M., primary, Morin, S., additional, Favre, C., additional, Giroux, V., additional, Bastelica, D., additional, Bernot, D., additional, Georgelin, O., additional, Verdier, M., additional, Olive, D., additional, Peiretti, F., additional, Malissen, M., additional, Nunes, J., additional, and Alessi, M.-C., additional

Published
2013
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83. Assessment of epicardial fat volume and myocardial triglyceride content in severely obese subjects: relationship to metabolic profile, cardiac function and visceral fat

Author

Gaborit, B, primary, Kober, F, additional, Jacquier, A, additional, Moro, P J, additional, Cuisset, T, additional, Boullu, S, additional, Dadoun, F, additional, Alessi, M-C, additional, Morange, P, additional, Clément, K, additional, Bernard, M, additional, and Dutour, A, additional

Published
2011
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90. B013 Genetic polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the desir prospective study

Author

Fontaine-Bisson, B., primary, Alessi, M.-C., additional, Saut, N., additional, Fumeron, F., additional, Marre, M., additional, Dutour, A., additional, Badens, C., additional, Levy, N., additional, Tichet, J., additional, Juhan-Vague, I., additional, Tregouet, D.-A., additional, Balkau, B., additional, and Morange, P.-E., additional

Published
2009
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97. Évaluation de la génération de thrombine dans une population de patients porteurs d'un anticoagulant circulant lupique persistant

Author

Serratrice, J., primary, Sanchez, C., additional, Morange, P., additional, Alessi, M.-C., additional, De Roux Serratrice, C., additional, Ene, N., additional, Ben Amri, A., additional, Ben Salah Thalet, H., additional, Ben Jelloun, M., additional, Disdier, P., additional, Juhan Vague, I., additional, and Weiller, P.-J., additional

Published
2007
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98. C3H/HeJ mice carrying a toll-like receptor 4 mutation are protected against the development of insulin resistance in white adipose tissue in response to a high-fat diet

Author

Poggi, M., primary, Bastelica, D., additional, Gual, P., additional, Iglesias, M. A., additional, Gremeaux, T., additional, Knauf, C., additional, Peiretti, F., additional, Verdier, M., additional, Juhan-Vague, I., additional, Tanti, J. F., additional, Burcelin, R., additional, and Alessi, M. C., additional

Published
2007
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99. Ectopic fat storage in the pancreas using 1H-MRS: importance of diabetic status and modulation with bariatric surgery-induced weight loss.

Author

Gaborit, B, Abdesselam, I, Kober, F, Jacquier, A, Ronsin, O, Emungania, O, Lesavre, N, Alessi, M-C, Martin, J C, Bernard, M, and Dutour, A

Subjects
ADIPOSE tissues, BARIATRIC surgery, WEIGHT loss, PANCREATIC diseases, PANCREATIC cancer, PANCREATITIS, TRIGLYCERIDES
Abstract

Objectives:Recent literature suggests that ectopic fat deposition in the pancreas may contribute to endocrine and exocrine organ dysfunction, such as type 2 diabetes (T2D), pancreatitis or pancreatic cancer. The aim of this study was to determine factors associated with pancreatic triglyceride content (PTGC), and to investigate the impact of bariatric surgery on ectopic fat pads, pancreatic fat (PTGC) and hepatic fat (HTGC).Subjects:In all, 45 subjects (13 lean, 13 obese nondiabetics and 19 T2D, matched for age and gender) underwent 1H-magnetic resonance spectroscopy, computed tomography of the visceral abdominal fat, metabolic and lipidomic analysis, including insulin-resistance homeostasis model assessment (HOMA-IR), insulin-secretion homeostasis model assessment (HOMA-B) and plasma fatty-acid composition. Twenty obese subjects were reassessed 6 months after the bariatric surgery.Results:PTGC was significantly higher in type 2 diabetic subjects (23.8±3.2%) compared with obese (14.0±3.3; P=0.03) and lean subjects (7.5±0.9%; P=0.0002). PTGC remained significantly associated with T2D after adjusting for age and sex (β=0.47; P=0.004) or even after adjusting for waist circumference, triglycerides and HOMA-IR (β=0.32; P=0.04). T2D, C18:1n-9 (oleic acid), uric acid, triglycerides and plasminogen activator inhibitor-1 were the five more important parameters involved in PTGC prediction (explained 80% of PTGC variance). Bariatric surgery induced a huge reduction of both HTGC (−51.2±7.9%) and PTGC (−43.8±7.0%) reaching lean levels, whereas body mass index remained greatly elevated. An improvement of insulin resistance HOMA-IR and no change in HOMA-B were observed after bariatric surgery. The PTGC or HTGC losses were not correlated, suggesting tissue-specific mobilization of these ectopic fat stores.Conclusion:Pancreatic fat increased with T2D and drastically decreased after the bariatric surgery. This suggests that decreased PTGC may contribute to improved beta cell function seen after the bariatric surgery. Further, long-term interventional studies are warranted to examine this hypothesis and to determine the degree to which ectopic fat mobilization may mediate the improvement in endocrine and exocrine pancreatic functions. [ABSTRACT FROM AUTHOR]

Published
2015
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