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https://www.readbyqxmd.com/read/28192580/a-brief-resolved-unexplained-event-and-congenital-neurosyphilis
#1
Justin Triemstra, Kelsey Reno, Rebecca Chohlas-Wood, Colleen Nash
Brief resolved unexplained event (BRUE) is a common pediatric problem that presents to ambulatory and emergency settings. Infants presenting with a BRUE can be separated into low- and high-risk groups per recent guidelines. Most low-risk infants who present with a BRUE can be discharged home with anticipatory guidance and education provided to the caregivers; however, high-risk infants should undergo further testing and observation to determine the cause of their event. Congenital neurosyphilis can be a rare cause of a BRUE...
February 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28115439/brief-resolved-unexplained-event-new-diagnosis-in-infants
#2
Karen Arane, Ilene Claudius, Ran D Goldman
QUESTION: For many years, the term apparent life-threatening event (ALTE) was associated with sudden infant death syndrome, and parents who described an acute event in their infants were sent to the hospital for admission. I understand that for infants new terminology is recommended. What is the current approach to a near-death experience of an infant? ANSWER: A recent clinical practice guideline revised the name and definition of an ALTE to a brief resolved unexplained event (BRUE)...
January 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28100630/a-multivariable-prediction-model-for-pegvisomant-dosing-monotherapy-and-in-combination-with-long-acting-somatostatin-analogues
#3
S E Franck, T I M Korevaar, P Petrossians, A F Daly, P Chanson, M L Jaffrain-Réa, T Brue, G K Stalla, D Carvalho, A Colao, V Hána, B Delemer, C Fajardo, A J van der Lely, A Beckers, S J C M M Neggers
BACKGROUND: Effective treatment of acromegaly with pegvisomant (PEGV), a growth hormone receptor antagonist, requires an appropriate dose titration. PEGV doses vary widely among individual patients, and various covariates may affect its dosing and pharmacokinetics. OBJECTIVE: To identify predictors of the PEGV dose required to normalize insulin-like growth factor I (IGF-I) levels during PEGV monotherapy and in combination with long-acting somatostatin analogues (LA-SSAs)...
April 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28079350/transcranial-approach-in-giant-pituitary-adenomas-results-and-outcome-in-a-modern-series
#4
Thomas Graillon, Frédéric Castinetti, Stéphane Fuentes, Regis Gras, Thierry Brue, Henry Dufour
BACKGROUND: Today, transcranial (TC) approach indications are particularly rare in pituitary adenomas (PA), representing 1.1% of all PA surgeries in our experience. In these rare and selected cases, the complications, advantages, and disadvantages of TC approach were also analyzed. METHODS: 19 cases of giant PA (≥40 mm) operated via TC approach alone or combined with transsphenoidal (TS) approach between 2000 and 2016 were selected. RESULTS: The most frequently observed symptom was visual disturbance...
January 12, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28073906/mri-follow-up-is-unnecessary-in-patients-with-macroprolactinomas-and-long-term-normal-prolactin-levels-on-dopamine-agonist-treatment
#5
MULTICENTER STUDY
J Eroukhmanoff, I Tejedor, I Potorac, T Cuny, J F Bonneville, H Dufour, G Weryha, A Beckers, P Touraine, T Brue, F Castinetti
OBJECTIVE: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once prolactin is controlled. The aim of our study was to determine whether a regular MRI follow-up was necessary in patients with long-term normal prolactin levels under DA. PATIENTS AND METHODS: We conducted a retrospective multicenter study (Marseille, Paris La Pitie Salpetriere and Nancy, France; Liege, Belgium) including patients with macroprolactinomas (largest diameter: >10 mm and baseline prolactin level: >100 ng/mL) treated by dopamine agonists, and regularly followed (pituitary MRI and prolactin levels) during at least 48 months once normal prolactin level was obtained...
March 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27869406/brue-a-new-term-and-approach-that-could-improve-our-practice
#6
Manuel Rocca Rivarola
No abstract text is available yet for this article.
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27716353/the-risks-of-overlooking-the-diagnosis-of-secreting-pituitary-adenomas
#7
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
https://www.readbyqxmd.com/read/27698074/successful-ivf-pregnancy-despite-inadequate-ovarian-steroidogenesis-due-to-congenital-lipoid-adrenal-hyperplasia-clah-a-case-report
#8
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...
November 2016: Human Reproduction
https://www.readbyqxmd.com/read/27649724/t2-weighted-mri-signal-predicts-hormone-and-tumor-responses-to-somatostatin-analogs-in-acromegaly
#9
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
https://www.readbyqxmd.com/read/27641080/long-term-outcome-of-macroprolactinomas
#10
MULTICENTER STUDY
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...
December 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/27504093/demyelinizing-neurological-disease-after-treatment-with-tumor-necrosis-factor-%C3%AE-antagonists
#11
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
https://www.readbyqxmd.com/read/27394322/taxonomic-revision-of-coniceromyia-borgmeier-diptera-phoridae-%C3%A2-with-the-description-of-three-new-species-from-brazil
#12
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...
March 6, 2016: Zootaxa
https://www.readbyqxmd.com/read/27394215/revision-of-the-palaearctic-species-of-eupelmus-eupelmus-dalman-hymenoptera-chalcidoidea-eupelmidae
#13
REVIEW
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...
February 17, 2016: Zootaxa
https://www.readbyqxmd.com/read/27267119/in-vitro-impact-of-pegvisomant-on-growth-hormone-secreting-pituitary-adenoma-cells
#14
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
https://www.readbyqxmd.com/read/27244835/brief-resolved-unexplained-events-formerly-apparent-life-threatening-events-and-evaluation-of-lower-risk-infants
#15
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
https://www.readbyqxmd.com/read/27094476/prevalence-of-kiss1-receptor-mutations-in-a-series-of-603-patients-with-normosmic-congenital-hypogonadotrophic-hypogonadism-and-characterization-of-novel-mutations-a-single-centre-study
#16
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
https://www.readbyqxmd.com/read/26906713/effect-of-pasireotide-on-glucose-and-growth-hormone-related-biomarkers-in-patients-with-inadequately-controlled-acromegaly
#17
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
https://www.readbyqxmd.com/read/26886902/cancerous-leptomeningitis-and-familial-congenital-hypopituitarism
#18
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
https://www.readbyqxmd.com/read/26874361/spontaneous-fertility-and-pregnancy-outcomes-amongst-480-women-with-turner-syndrome
#19
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/26797872/gpr101-mutations-are-not-a-frequent-cause-of-congenital-isolated-growth-hormone-deficiency
#20
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
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