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Thierry Brue, Frederic Castinetti
Secreting pituitary adenomas that cause acromegaly and Cushing's disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these conditions means that their diagnosis is not familiar to most non-specialist physicians. Consequently, pituitary adenomas may be overlooked and remain untreated, and affected individuals may develop serious comorbidities that reduce their quality of life and life expectancy. Because many signs and symptoms of pituitary adenomas overlap with those of other, more common disorders, general practitioners and non-endocrinology specialists need to be aware of the "red flags" suggestive of these conditions...
October 6, 2016: Orphanet Journal of Rare Diseases
Frédérique Albarel, Jeanne Perrin, Margaux Jegaden, Florence Roucher-Boulez, Rachel Reynaud, Thierry Brue, Blandine Courbiere
Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected individuals. To date, only two pregnancies have been described in 46,XX CLAH patients with StAR mutations; these patients exhibited ovarian steroidogenesis along with spontaneous puberty and menarche and normal menses. The patient described here presented with CLAH caused by the homozygous (unreported, 1 bp) deletion c...
October 3, 2016: Human Reproduction
Iulia Potorac, Patrick Petrossians, Adrian F Daly, Orsalia Alexopoulou, Sophie Borot, Mona Sahnoun-Fathallah, Frederic Castinetti, France Devuyst, Marie-Lise Jaffrain-Rea, Claire Briet, Florina Luca, Marion Lapoirie, Flavius Zoicas, Isabelle Simoneau, Alpha M Diallo, Ammar Muhammad, Fahrettin Kelestimur, Elena Nazzari, Rogelio Garcia Centeno, Susan M Webb, Marie-Laure Nunes, Vaclav Hana, Véronique Pascal-Vigneron, Irena Ilovayskaya, Farida Nasybullina, Samia Achir, Diego Ferone, Sebastian J C M M Neggers, Brigitte Delemer, Jean-Michel Petit, Christof Schöfl, Gerald Raverot, Bernard Goichot, Patrice Rodien, Bernard Corvilain, Thierry Brue, Franck Schillo, Luaba Tshibanda, Dominique Maiter, Jean-François Bonneville, Albert Beckers
GH-secreting pituitary adenomas can be hypo-, iso- or hyper-intense on T2-weighted MRI sequences. We conducted the current multicenter study in a large population of patients with acromegaly to analyze the relationship between T2-weighted signal intensity on diagnostic MRI and hormonal and tumoral responses to somatostatin analogs (SSA) as primary monotherapy. Acromegaly patients receiving primary SSA for at least 3 months were included in the study. Hormonal, clinical and general MRI assessments were performed and assessed centrally...
November 2016: Endocrine-related Cancer
Lori Képénékian, Hélène Cebula, Frédéric Castinetti, Thomas Graillon, Thierry Brue, Bernard Goichot
OBJECTIVE: Management of macroprolactinomas has dramatically changed in recent decades, from surgical to medical treatment as first-line therapy, with the development of dopamine agonists (DA). But few data exist on the long-term outcome of these patients. PATIENTS AND METHODS: Retrospective descriptive multicenter study of patients with macroprolactinoma followed for at least 5 years between 1973 and 2008 at the University Hospitals of Strasbourg and Marseille...
September 15, 2016: Annales D'endocrinologie
Claudia Bruè, Cesare Mariotti, Ilaria Rossiello, Andrea Saitta, Alfonso Giovannini
PURPOSE: Demyelinizing neurological disease is a rare complication after treatment with tumor necrosis factor (TNF)α antagonists. We report on a case of multiple sclerosis after TNFα antagonist treatment and discuss its differential diagnosis. METHODS: This is an observational case study. RESULTS: A 48-year-old male was referred to Ophthalmology in January 2015 for an absolute scotoma in the superior quadrant of the visual field in his right eye...
May 2016: Case Reports in Ophthalmology
Danilo César Ament, Dalton De Souza Amorim
The 55 known species of Coniceromyia are herein revised. Three new species from the Atlantic Forest in Brazil are described-C. apioneura, sp.nov., C. neofusca, sp.nov. and C. tanycrossa, sp.nov.-and fourteen species are redescribed. Most of the species have foreleg, wing, hind femur, and male terminalia illustrated. Characters previously unnoticed are described for the first time. Coniceromyia cubensis Brues, previously accepted as a synonym of C. latimana (Malloch), has its status reinstated. Taxonomic problems in the genus are addressed, including the condition of the damaged holotypes of C...
2016: Zootaxa
Gary A P Gibson, Lucian Fusu
One hundred-four extant species of Eupelmus Dalman (Hymenoptera: Eupelmidae: Eupelminae) are recognized from the Palaearctic region, of which 76 species of E. (Eupelmus) are recognized following a revision of the Palaearctic fauna of the subgenus. The following 25 species are described as new: E. (Eupelmus) adustus Gibson & Fusu n. sp., E. (Eupelmus) angustifrons Gibson & Fusu n. sp., E. (Eupelmus) bicolor Gibson & Fusu n. sp., E. (Eupelmus) brachypterus Fusu & Gibson n. sp., E. (Eupelmus) brachystylus Gibson & Fusu n...
2016: Zootaxa
Thomas Cuny, Caroline Zeiller, Martin Bidlingmaier, Céline Défilles, Catherine Roche, Marie-Pierre Blanchard, Marily Theodoropoulou, Thomas Graillon, Morgane Pertuit, Dominique Figarella-Branger, Alain Enjalbert, Thierry Brue, Anne Barlier
Pegvisomant (PEG), an antagonist of growth hormone (GH)-receptor (GHR), normalizes insulin-like growth factor 1 (IGF1) oversecretion in most acromegalic patients unresponsive to somatostatin analogs (SSAs) and/or uncontrolled by transsphenoidal surgery. The residual GH-secreting tumor is therefore exposed to the action of circulating PEG. However, the biological effect of PEG at the pituitary level remains unknown. To assess the impact of PEG in vitro on the hormonal secretion (GH and prolactin (PRL)), proliferation and cellular viability of eight human GH-secreting tumors in primary cultures and of the rat somatolactotroph cell line GH4C1...
July 2016: Endocrine-related Cancer
Joel S Tieder, Joshua L Bonkowsky, Ruth A Etzel, Wayne H Franklin, David A Gremse, Bruce Herman, Eliot S Katz, Leonard R Krilov, J Lawrence Merritt, Chuck Norlin, Jack Percelay, Robert E Sapién, Richard N Shiffman, Michael B H Smith
This is the first clinical practice guideline from the American Academy of Pediatrics that specifically applies to patients who have experienced an apparent life-threatening event (ALTE). This clinical practice guideline has 3 objectives. First, it recommends the replacement of the term ALTE with a new term, brief resolved unexplained event (BRUE). Second, it provides an approach to patient evaluation that is based on the risk that the infant will have a repeat event or has a serious underlying disorder. Finally, it provides management recommendations, or key action statements, for lower-risk infants...
May 2016: Pediatrics
Bruno Francou, Charlotte Paul, Larbi Amazit, Alejandra Cartes, Claire Bouvattier, Frédérique Albarel, Dominique Maiter, Philippe Chanson, Séverine Trabado, Sylvie Brailly-Tabard, Thierry Brue, Anne Guiochon-Mantel, Jacques Young, Jérôme Bouligand
STUDY QUESTION: What is the exact prevalence of Kisspeptin Receptor (KISS1R) mutations in the population of patients with normosmic congenital hypogonadotrophic hypogonadism (nCHH) by comparison with other genes, involved in gonadotrophin-releasing hormone (GnRH) release or action? SUMMARY ANSWER: KISS1R mutants are responsible for the nCHH phenotype in only a small minority of cases and were less prevalent than GnRH Receptor (GNRHR) mutations. WHAT IS KNOWN ALREADY: The respective prevalence of each of the genetic causes of nCHH is unclear...
June 2016: Human Reproduction
Herbert A Schmid, Thierry Brue, Annamaria Colao, Mônica R Gadelha, Ilan Shimon, Karen Kapur, Alberto M Pedroncelli, Maria Fleseriu
The purpose of this study was to gain more insight into the mechanism of action of pasireotide in patients who completed the PAOLA study. PAOLA was a 24-week, Phase III, randomized, three-arm study of pasireotide LAR 40 and 60 mg versus octreotide LAR 30 mg or lanreotide Autogel 120 mg in patients with inadequately controlled acromegaly. The current work was a planned exploratory objective of the PAOLA study that evaluated changes in levels of growth hormone (GH), insulin-like growth factor 1 (IGF-1), IGF-binding proteins (IGFBP-2, IGFBP-3), glycated haemoglobin (HbA1c) and fasting plasma glucose (FPG) in each treatment arm...
July 2016: Endocrine
S Vujovic, S Vujosevic, S Kavaric, J Sopta, M Ivovic, A Saveanu, T Brue, M Korbonits, V Popovic
People are at higher risk of cancer as they get older or have a strong family history of cancer. The potential influence of environmental and behavioral factors remains poorly understood. Earlier population and case control studies reported that upper quartile of circulating IGF-I is associated with a higher risk of developing cancer suggesting possible involvement of the growth hormone (GH)/IGF system in initiation or progression of cancer. Since GH therapy increases IGF-1 levels, there have been concerns that GH therapy in hypopituitarism might increase the risk of cancer...
May 2016: Endocrine
Valérie Bernard, Bruno Donadille, Delphine Zenaty, Carine Courtillot, Sylvie Salenave, Aude Brac de la Perrière, Frédérique Albarel, Anne Fèvre, Véronique Kerlan, Thierry Brue, Brigitte Delemer, Françoise Borson-Chazot, Jean-Claude Carel, Philippe Chanson, Juliane Léger, Philippe Touraine, Sophie Christin-Maitre
STUDY QUESTION: What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)? SUMMARY ANSWER: Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women. WHAT IS KNOWN ALREADY: Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients. STUDY DESIGN, SIZE, DURATION: The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS...
April 2016: Human Reproduction
F Castinetti, A F Daly, C A Stratakis, J-H Caberg, E Castermans, G Trivellin, L Rostomyan, A Saveanu, N Jullien, R Reynaud, A Barlier, V Bours, T Brue, A Beckers
Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone (GH) hypersecretion from mixed GH-PRL adenomas and hyperplasia. The microduplication includes GPR101, which is upregulated in patients' tumor tissue. The GPR101 gene codes for an orphan G protein coupled receptor that is normally highly expressed in the hypothalamus. Our aim was to determine whether GPR101 loss of function mutations or deletions could be involved in patients with congenital isolated GH deficiency (GHD)...
June 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Jay C Erie, Matthew R Pueringer, Scott M Brue, Alanna M Chamberlain, David O Hodge
PURPOSE: To determine the association between statin use and incident cataract surgery. METHODS: Using the resources of the Rochester Epidemiology Project, a retrospective population-based, case-control study was performed. Cases included 6024 county residents aged 50 years and older who had first-eye cataract surgery between 1 January 2004 and 31 December 2011. Controls included residents who had never had cataract surgery and were matched to cases by age, sex, and index date within 1 month of surgery...
2016: Ophthalmic Epidemiology
Carole Guerin, David Taieb, Giorgio Treglia, Thierry Brue, André Lacroix, Frederic Sebag, Frederic Castinetti
Therapeutic options available for the treatment of Cushing's syndrome (CS) have expanded over the last 5 years. For instance, the efficient management of severe hypercortisolism using a combination of fast-acting steroidogenesis inhibitors has been reported. Recent publications on the long-term efficacy of drugs or radiation techniques have also demonstrated low toxicity. These data should encourage endocrinologists to reconsider the place of bilateral adrenalectomy in patients with ACTH-dependent aetiologies of CS; similarly, the indication of bilateral adrenalectomy is reassessed in primary bilateral macronodular adrenal hyperplasia...
February 2016: Endocrine-related Cancer
Frederic Castinetti, Rachel Reynaud, Alexandru Saveanu, Nicolas Jullien, Marie Helene Quentien, Claire Rochette, Anne Barlier, Alain Enjalbert, Thierry Brue
Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. New modes of inheritance for alterations of genes encoding transcription factors have also been described. Finally, actors known to be involved in a very specific phenotype (hypogonadotroph hypogonadism for instance) have been identified in a wider range of phenotypes...
June 2016: European Journal of Endocrinology
Audrey Roussel-Gervais, Catherine Couture, David Langlais, Shinobu Takayasu, Aurelio Balsalobre, Bo R Rueda, Lawrence R Zukerberg, Dominique Figarella-Branger, Thierry Brue, Jacques Drouin
CONTEXT: Cushing disease (CD) is due to pituitary corticotrope adenomas that produce unrestrained ACTH secretion and have lost the negative feedback exerted by glucocorticoids (GCs). GCs also restrain corticotrope proliferation, and the mechanisms of this inhibition are poorly understood. OBJECTIVE: The aim of the study was to identify cell cycle regulatory genes that are regulated by GCs and the glucocorticoid receptor and to assess regulatory genes that have a rate-limiting action on corticotrope proliferation and may be disregulated in CD...
February 2016: Journal of Clinical Endocrinology and Metabolism
Philippe Chanson, Thierry Brue, Brigitte Delemer, Philippe Caron, Françoise Borson-Chazot, Hichem Zouater
OBJECTIVE: To monitor long-term pegvisomant treatment of patients with acromegaly in routine clinical practice. PATIENTS AND METHODS: The French ACROSTUDY is part of the global ACROSTUDY, an observational post-authorization safety surveillance study of acromegaly treatment with pegvisomant. RESULTS: The median duration of follow-up of the 292 included patients was 5.2 years. Overall 272 (93%) patients received somatostatin analogues before initiation of pegvisomant...
December 2015: Annales D'endocrinologie
A Pleil, A J van der Lely, X Badia, T Brue, M Buchfelder, P Burman, E Ghigo, R Gomez, J O Jorgensen, A Luger, J van der Lans-Bussemaker, S Webb, C Strasburger
No abstract text is available yet for this article.
November 2015: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
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