Search

Your search keyword '"Thierry Brue"' showing total 6 results
Start Over Author "Thierry Brue" Publisher s. karger ag
6 results on '"Thierry Brue"'

1. Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations

Author

Marc Nicolino, Dominique Bonneau, Sarah Castets, Yves Morel, Florence Roucher-Boulez, Patrizia Amati-Bonneau, Thierry Brue, Celine Girardin, Carine Villanueva, Rachel Reynaud, Alexandru Saveanu, Olivier Chabre, and Delphine Mallet-Motak

Subjects
Pituitary stalk, Candidate gene, medicine.medical_specialty, Mutation, 030219 obstetrics & reproductive medicine, business.industry, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Hypopituitarism, medicine.disease, medicine.disease_cause, Blepharophimosis, Growth hormone deficiency, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Ptosis, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Eyelid, medicine.symptom, business
Abstract

Background: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and Foxl2 is known to be involved in pituitary development in mice. Our aim was to analyze the prevalence of FOXL2 gene alteration in a series of patients with congenital hypopituitarism and eyelid anomalies. Methods: FOXL2 was analyzed in 10 patients with hypopituitarism (ranging from isolated GHD to complete pituitary hormone deficiency) and eyelid anomalies (typical BPES in 4 patients and milder anomalies in 6 patients). In patients with an FOXL2 mutation, we ruled out other possible molecular explanations by analyzing a panel of 20 genes known to be associated with hypopituitarism, and a candidate gene approach was used for patients without an FOXL2mutation. Results: Three patients had an FOXL2mutation. All 3 had typical BPES. Their pituitary phenotype varied from GHD to complete pituitary hormone deficiency and their pituitary morphology ranged from normal to an interrupted pituitary stalk. No mutations were found in genes previously associated with hypopituitarism. Conclusion: Our study shows that some patients with BPES have hypopituitarism with no molecular explanation other than FOXL2 mutation. This points toward an involvement of FOXL2 in human pituitary development.

Published
2020
Full Text
View/download PDF

2. Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

Author

Rachel Reynaud, Maria Virginia Méndez, Debora Braslavsky, Nicolas Jullien, Ana Chiesa, Ana Keselman, Thierry Brue, Laura Gruñeiro-Papendieck, Laura Prieto, Alexandru Savenau, Rosa Enacan, and Ignacio Bergadá

Subjects
Male, NEONATAL SCREENING PROGRAM, endocrine system, Pediatrics, medicine.medical_specialty, Pathology, CIENCIAS MÉDICAS Y DE LA SALUD, Dried blood specimen, Endocrinology, Diabetes and Metabolism, Thyrotropin, Pilot Projects, 030209 endocrinology & metabolism, Medicina Clínica, Thyroid Function Tests, Thyroid function tests, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, DRIED BLOOD SPECIMEN, purl.org/becyt/ford/3.2 [https], Congenital Hypothyroidism, CONGENITAL HYPOPITUITARISM, medicine, Central hypothyroidism, Humans, Prospective Studies, 030212 general & internal medicine, Prospective cohort study, Triiodothyronine, medicine.diagnostic_test, business.industry, Infant, Newborn, Congenital hypopituitarism, medicine.disease, Infant newborn, CONGENITAL HYPOTHYROIDISM, Congenital hypothyroidism, Thyroxine, Pediatrics, Perinatology and Child Health, purl.org/becyt/ford/3 [https], Female, Medicina Critica y de Emergencia, CENTRAL HYPOTHYROIDISM, business
Abstract

Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days. Those with T4 ≤4.5 μg/dL (-2.3 SDS) and TSH

Published
2017
Full Text
View/download PDF

4. Prolactin Isoforms Secreted by Human Prolactinomas

Author

Thierry Brue, P. Jaquet, T. Hoffmann, G. Gunz, and C. Ronin

Subjects
Gene isoform, Glycosylation, Lymphoma, Endocrinology, Diabetes and Metabolism, Immunoblotting, Size-exclusion chromatography, Biology, Chromatography, Affinity, Endocrinology, Tumor Cells, Cultured, medicine, Humans, Pituitary Neoplasms, Prolactinoma, Polyacrylamide gel electrophoresis, Gel electrophoresis, Isoelectric focusing, Antibodies, Monoclonal, medicine.disease, Prolactin, Molecular Weight, Hexosaminidases, Biochemistry, Chromatography, Gel, biology.protein, Electrophoresis, Polyacrylamide Gel, Immunoradiometric Assay, Isoelectric Focusing, Antibody, Cell Division
Abstract

Prolactin (hPRL) secreted by human prolactinoma cells in culture was purified by gel filtration, lectin affinity chromatography and gel electrophoresis in order to identify the different isoforms of the hormone and to test their respective immunoreactivities and bioactivities. The nonglycosylated hPRL (NG-hPRL), unbound to lectins, was the major form and was a species (NG1-hPRL), of 23,000 (M(r)) apparent molecular weight. The lectin-bound glycosylated hPRL (G-hPRL) consisted of three forms, G1-, G2- and G3-hPRL, of identical molecular weights (25,000 M(r)). Endoglycosidase treatment indicated that these three forms differed by the heterogeneity of their carbohydrate chains. These G-PRLs proved to be 68% less immunoreactive and 50% less bioactive than NG-hPRL. It is concluded from these data that, in prolactinomas, the main variant of the hormone is the nonglycosylated form of PRL.

Published
1992
Full Text
View/download PDF

5. Subject Index Vol. 92, 2010

Author

Manuela Albertelli, Gloria Appolloni, Satz Mengensatzproduktion, Maria Grazia Redaelli, Valentina Piccini, Alberto Rebora, Alia Munir, Bernard Conte-Devolx, Wouter W. de Herder, Andrea Laurenzi, Miryam Talco, Anne-Sophie Thonnard, Maria Cristina De Martino, Leo J. Hofland, Elisa Borgogni, Gabriella Nesi, Piero Picozzi, Steven W. J. Lamberts, Philippe Chanson, Carla Scaroni, Viviana Daidone, Monica Mangoni, Michaela Luconi, Jens Otto Lunde Jørgensen, Yona Greenman, Renata S. Auriemma, Thierry Brue, Patrick Petrossians, Ann Mosegaard Bak, L.J. Hofland, Elena Nazzari, M.C. De Martino, Annamaria Colao, Elena Rapizzi, Richard A Feelders, Umberto Goglia, Diego Ferone, Daniela Esposito, Kristine Zøylner Rubeck, Pasquale Vitale, Marco Boscaro, Alberto M. Pereira, R.N. Clayton, Silvia Vandeva, Sabina Zacharieva, Ashley B. Grossman, Sven Schlaffer, Charlotte Steffensen, Alessia Cozzolino, Alberto M Pedroncelli, Tonino Ercolino, Chiara Simeoli, Adrian F. Daly, Giada Poli, Mara Boschetti, Krystallenia I Alexandraki, Marco Losa, Gregory Kaltsas, Sylvie Salenave, Marina Cardinaletti, P. M. van Koetsveld, Giorgio Arnaldi, Johannes A. Romijn, Federico Gatto, Alessandra Casonato, Massimo Mannelli, Gaetano Lombardi, Druck Reinhardt Druck Basel, Polyzois Makras, Letizia Canu, Franco Mantero, Maria Verena Cicala, John Newell-Price, Jitske Tiemensma, Marica Arvigo, Albert Beckers, Laura Trementino, Monica De Leo, Pietro Mortini, Valerio Mattia Scandali, Maria Yaneva, Frederic Castinetti, Giulia Cantini, R. Pivonello, Francesco Minuto, Michael Buchfelder, and Rosario Pivonello

Subjects
Gerontology, Cellular and Molecular Neuroscience, Endocrinology, Index (economics), Endocrine and Autonomic Systems, Endocrinology, Diabetes and Metabolism, Subject (documents), Psychology
Published
2010
Full Text
View/download PDF

6. Subject Index Vol. 71, Suppl. 1, 2009

Author

Virginia Boccardi, Thierry Brue, Anna M. G. Cali, J.M. Hanson, C. Poirot, F. Mantero, Robert M. Carey, S. Hassan, Erica A. Eugster, Francesco Cavagnini, Hugo L. Fideleff, Dragan Micic, Roger Bouillon, A. Grueters, Adrian F. Daly, Frida Lundgren, F. Lolli, S. Sarnacki, S.F. Ahmed, John A.H. Wass, M. Korbonits, Maria A. Tichomirow, J.J.C.W.M. Buijtels, Ezio Ghigo, Aart Jan van der Lely, Robert A. Waterland, J. van der Spuy, Jyotsna Keni, Patrick Concannon, Giuseppe Paolisso, J.M. Wit, M. Gueorguiev, S.W.J. Lamberts, D. Bishop-Bailey, H.C. Christian, Mitchell E. Geffner, Hanna Karlsson, Michela Papa, L.A. Frohman, Ana I. Castro, S. O’Toole, A.M. Wallace, P. Kuehnen, Meinolf Noeker, B.P. Meij, H. Krude, H.S. Kooistra, A.L. Robertson, C.A. Leontiou, Sabine M.P.F. de Muinck Keizer-Schrama, J.P. Chapple, Wayne S. Cutfield, D.M. Berney, Felipe F. Casanueva, N. Binart, Suna Onengut-Gumuscu, Martin Bidlingmaier, C. de Bruin, Beverly M. K. Biller, Francesca Pecori Giraldi, Lindsay McTavish, L.J. Hofland, Albert Beckers, Carolyn A. Bondy, Gudmundur Johannsson, Liesbet Lieben, S. Galac, Carlos Dieguez, F. Sauvat, Filip Callewaert, M. Stolbrink, Esko Wiltshire, L.S. Keir, J. Wray, A. Patalano, Stephen S. Rich, Sonia Caprio, V. Brancato, Leo Dunkel, A.B. Grossman, Fahrettin Kelestimur, Michelangela Barbieri, and Pinchas Cohen

Subjects
Endocrinology, Index (economics), Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Statistics, Subject (documents), Psychology
Published
2009
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results