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406 results on '"Touati, G."'

3. Five-year mortality of patients with perioperative myocardial infarction after on-pump isolated or combined coronary artery bypass graft surgery: A retrospective propensity score-weighted analysis

Author

Beyls, C., primary, Huette, P., additional, Huang, P., additional, Kowalik, H., additional, Andreamifidi-Berti, C., additional, Guilbart, M., additional, Bernasinsiki, M., additional, Besserve, P., additional, Touati, G., additional, Caus, T., additional, Dupont, H., additional, Mahjoub, Y., additional, and Arab, Abou O., additional

Published
2024
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6. Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency

Author

Yverneau, M., Leroux, S., Imbard, A., Gleich, F., Arion, A., Moreau, C., Nassogne, M.C., Szymanowski, M., Tardieu, M., Touati, G., Bueno, M., Chapman, K.A., Chien, Y.H., Huemer, M., Ješina, P., Janssen, M.C.H., Kölker, S., Kožich, V., Lavigne, C., Lund, A.M., Mochel, F., Morris, A., Pons, M.R., Porras-Hurtado, G.L., Benoist, J.F., Damaj, L., Schiff, M., Yverneau, M., Leroux, S., Imbard, A., Gleich, F., Arion, A., Moreau, C., Nassogne, M.C., Szymanowski, M., Tardieu, M., Touati, G., Bueno, M., Chapman, K.A., Chien, Y.H., Huemer, M., Ješina, P., Janssen, M.C.H., Kölker, S., Kožich, V., Lavigne, C., Lund, A.M., Mochel, F., Morris, A., Pons, M.R., Porras-Hurtado, G.L., Benoist, J.F., Damaj, L., and Schiff, M.

Abstract

Item does not contain fulltext, MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early-onset patients mostly exhibit a life-threatening acute neurologic deterioration. Furthermore, data on early-onset patients' long-term outcomes are scarce. The aims of this study were (1) to study and describe the clinical and laboratory parameters of early-onset MTHFR-deficient patients (i.e., ≤3 months of age) and (2) to identify predictive factors for severe neurodevelopmental outcomes in a cohort with early and late onset MTHFR-deficient patients. To this end, we conducted a retrospective, multicentric, international cohort study on 72 patients with MTHFR deficiency from 32 international metabolic centres. Characteristics of the 32 patients with early-onset MTHFR deficiency were described at time of diagnosis and at the last follow-up visit. Logistic regression analysis was used to identify predictive factors of severe neurodevelopmental outcome in a broader set of patients with early and non-early-onset MTHFR deficiency. The majority of early-onset MTHFR-deficient patients (n = 32) exhibited neurologic symptoms (76%) and feeding difficulties (70%) at time of diagnosis. At the last follow-up visit (median follow-up time of 8.1 years), 76% of treated early-onset patients (n = 29) exhibited a severe neurodevelopmental outcome. Among the whole study population of 64 patients, pre-symptomatic diagnosis was independently associated with a significantly better neurodevelopmental outcome (adjusted OR 0.004, [0.002-0.232]; p = 0.003). This study provides evidence for benefits of pre-symptomatic diagnosis and appropriate therapeutic management, highlighting the need for systematic newborn screening for MTHFR deficiency and pre-symptomatic treatment that may improve outcome.

Published
2022

7. Update on transcobalamin deficiency: clinical presentation, treatment and outcome

Author

Trakadis, Y. J., Alfares, A., Bodamer, O. A., Buyukavci, M., Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H., Echenne, B., Manoli, I., Mitchell, J., Nordwall, M., Prasad, C., Scaglia, F., Schiff, M., Schrewe, B., Touati, G., Tchan, M. C., Varet, B., Venditti, C. P., Zafeiriou, D., Rupar, C. A., Rosenblatt, D. S., Watkins, D., and Braverman, N.

Published
2014
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18. Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients

Author

Garcia-Cazorla, A., De Lonlay, P., Nassogne, M.C., Rustin, P., Touati, G., and Saudubray, J.M.

Subjects
Mitochondrial diseases -- Care and treatment, Mitochondrial diseases -- Research
Abstract

Objectives. We sought to determine the long-term clinical and biochemical outcome of newborns with mitochondrial cytopathies (MCs) and to identify possible prognostic factors that may modify the course of these diseases. Material and Methods. Fifty-seven newborns with MCs were identified in a retrospective review (19832002). We defined 2 different outcome categories: clinical (neurologic, hepatic, myopathic, and multiorganic) and biochemical (lactate level normalization or initially normal remaining unchanged, decreased but not normalized, and persistently high). We used 2 different statistical approaches: (1) survival studies depending on the initial symptoms and lactate and enzymatic deficiencies using the Kaplan-Meier method; and (2) the same variables compared with different survival age groups and clinical and biochemical outcome categories using the [chi square] test. Results. Thirty-three patients died (57.8%), 12 remain alive (21%), and 12 were lost in the follow-up; 6 of them are currently older than 4 years. Most of the patients manifested multiorganic disease (64.8%) and high lactate level (77.1%) over time. Children surviving to 2.5 to 3 years of age were more likely to survive for a long period of time. Initial neurologic and hepatic presentation increased the risk to develop neurologic disease and severe persistent hyperlactacidemia, respectively. Initial severe hyperlactacidemia and combined enzyme deficiencies were significant risk factors for higher mortality and multiorganic disorders. Two patients with exclusively myopathic outcome are alive and cognitively normal at 12 years of life. Conclusions. Children with neonatal-onset MCs have very high mortality and poor prospects. However, some with life-threatening presentations may gradually improve, giving rise to less severe diseases. Those with exclusively myopathic symptoms have a better prognosis. Pediatrics 2005;116:1170-1177; long-term follow up, mitochondrial disorders, neonatal morbidity, neonatal mortality, hyperlactacidemia. ABBREVIATIONS. C, electron transport chain complex; CPK, creatine phosphokinase; MC, mitochondrial cytopathy., Mitochondrial disorders are considered to be among the most prevalent metabolic diseases. The clinical presentation of these disorders has been widely reported in pediatrics. (1-3) The great variety of symptomatology [...]

Published
2005

23. Poster session: Aortic stenosis

Author

Szymanski, C, Magne, J, Rusinaru, D, Fournier, A, Mezghani, S, Peltier, M, Touati, G, and Tribouilloy, C

Published
2012

27. Prognostic and therapeutic implications of pulmonary hypertension complicating degenerative mitral regurgitation due to flail leaflet: A Multicenter Long-term International Study

Author

Barbieri, Andrea, Bursi, Francesca, Grigioni, Francesco, Tribouilloy, Christophe, Avierinos, Jean Francois, Michelena, Hector I., Rusinaru, Dan, Szymansky, Catherine, Russo, Antonio, Suri, Rakesh, Bacchi Reggiani, Maria Letizia, Branzi, Angelo, Modena, Maria Grazia, Enriquez-Sarano, Maurice, Tribouilloy, C., Rusinaru, D., Szymanski, C., Fournier, A., Trojette, F., Touati, G., Remadi, J. P., Grigioni, F., Russo, A., Piovaccari, G., Ferlito, M., Ionico, T., Barbaresi, E., Branzi, A., Savini, C., Martin-Suarez, S., Marinelli, G., Di Bartolomeo, R., Avierinos, J. F., Tafanelli, L., Habib, G., Collard, F., Riberi, A., Metras, D., Barbieri, A., Bursi, F., Grimaldi, T., Nuzzo, A., Modena, M. G., Enriquez-Sarano, M., Michelena, H. I., Suri, R., and Bacchi-Reggiani, M. L.

Published
2011
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37. Congenital hyperinsulinism and mosaic abnormalities of the ploidy

Author

Giurgea, I, Sanlaville, D, Fournet, J-C, Sempoux, C, Bellanné-Chantelot, C, Touati, G, Hubert, L, Groos, M-S, Brunelle, F, Rahier, J, Henquin, J-C, Dunne, M J, Jaubert, F, Robert, J-J, Nihoul-Fékété, C, Vekemans, M, Junien, C, and de Lonlay, P

Published
2006

46. Long-Term Implications of Atrial Fibrillation in Patients With Degenerative Mitral Regurgitation

Author

Grigioni, Francesco, primary, Benfari, Giovanni, additional, Vanoverschelde, Jean-Louis, additional, Tribouilloy, Christophe, additional, Avierinos, Jean-Francois, additional, Bursi, Francesca, additional, Suri, Rakesh M., additional, Guerra, Federico, additional, Pasquet, Agnés, additional, Rusinaru, Dan, additional, Marcelli, Emanuela, additional, Théron, Alexis, additional, Barbieri, Andrea, additional, Michelena, Hector, additional, Lazam, Siham, additional, Szymanski, Catherine, additional, Nkomo, Vuyisile T., additional, Capucci, Alessandro, additional, Thapa, Prabin, additional, Enriquez-Sarano, Maurice, additional, Suri, R., additional, Clavel, M.A, additional, Maalouf, J., additional, Michelena, H., additional, Enriquez-Sarano, M., additional, Tribouilloy, C., additional, Trojette, F., additional, Szymanski, C., additional, Rusinaru, D., additional, Touati, G., additional, Remadi, J.P., additional, Guerra, F., additional, Capucci, A., additional, Grigioni, F., additional, Russo, A., additional, Biagini, E., additional, Pasquale, F., additional, Ferlito, M., additional, Rapezzi, C., additional, Savini, C., additional, Marinelli, G., additional, Pacini, D., additional, Gargiulo, G.D., additional, Di Bartolomeo, R., additional, Boulif, J., additional, de Meester, C., additional, El Khoury, G., additional, Gerber, B., additional, Lazam, S., additional, Pasquet, A., additional, Noirhomme, P., additional, Vancraeynest, D., additional, Vanoverschelde, J-L., additional, Avierinos, J.F., additional, Collard, F., additional, Théron, A., additional, Habib, G., additional, Barbieri, A., additional, Bursi, F., additional, Mantovani, F., additional, Lugli, R., additional, Modena, M.G., additional, Boriani, G., additional, and Bacchi-Reggiani, L., additional

Published
2019
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49. Impact of ageing on presentation and outcome of mitral regurgitation due to flail leaflet: a multicentre international study

Author

Avierinos, J. -F., Tribouilloy, C., Grigioni, F., Suri, R., Barbieri, A., Michelena, H. I., Ionico, T., Rusinaru, D., Ansaldi, S., Habib, G., Szymanski, C., Giorgi, R., Mahoney, D. W., Enriquez-Sarano, M., Theron, A., Riberi, A., Collard, F., Touati, G., Remadi, J. P., Caus, T., Barbaresi, E., Russo, A., Biagini, E., Piovaccari, G., Ferlito, M., Branzi, A., Savini, C., Marinelli, G., Petridis, F., Di Bartolomeo, R., Bursi, F., Grimaldi, T., Nuzzo, A., Modena, M. G., J.-F. Avierino, C. Tribouilloy, F. Grigioni, R. Suri, A. Barbieri, H. I. Michelena, T. Ionico, D. Rusinaru, S. Ansaldi, G. Habib, C. Szymanski, R. Giorgi, D. W. Mahoney, and M. Enriquez-Sarano

Subjects
Congestive heart failure, Male, medicine.medical_specialty, Population, Mitral valve surgery, ATRIAL FIBRILLATION, Risk Factors, Internal medicine, Humans, Medicine, Registries, education, Outcome, Aged, Mitral regurgitation, Heart Failure, education.field_of_study, Ageing, Atrial fibrillation, business.industry, Age Factors, Absolute risk reduction, Mitral Valve Insufficiency, Middle Aged, Prognosis, medicine.disease, Comorbidity, Confidence interval, congestive heart failure, Echocardiography, Heart failure, Relative risk, Cardiology, Female, Cardiology and Cardiovascular Medicine, business
Abstract

Aims Define the impact of age at diagnosis on degenerative mitral regurgitation (MR) prognosis. Methods and results The Mitral regurgitation International DAtabase (MIDA) is a multicentre registry of MR due to flail leaflets including 862 patients (65 ± 12 years) diagnosed by echocardiography. The 498 older patients (≥65 years at diagnosis) were compared with the 364 younger (

Published
2013
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