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7. Adenomi ipofisari

Author

Castinetti, F., Albarel, F., Cuny, T., Morange, I., Vermalle, M., and Brue, T.

Abstract

Gli adenomi ipofisari sono dei tumori benigni. Anche se rari, possono essere causa di un aumento della mortalità e di severe comorbilità,attraverso tre meccanismi: 1) l’ipersecrezione di ormoni ipofisari porta a quadri clinici specifici: acromegalie per eccesso di ormone della crescita, effetti gonadici e mammari per iperprolattinemia, malattia di Cushing per ipersecrezione di ormone adrenocorticotropo e ipertiroidismo centrale per quella di TSH (ormone che stimola la tiroide); 2) delle manifestazioni relative aipossibili deficit ipofisari; 3) l’effetto massa, che porta principalmente a cefalee o a danni al campo visivo dovuti a compressione chiasmatica. Gli adenomi non ipofisarinon secernenti si sviluppano lentamente e si manifestano con segni di compressione unicamente dopo una lunga evoluzione. Il più delle volte sono anche causa di un deficit delle linee ipofisarie (ipopituitarismo). La diagnosi di adenomaipofisario è principalmente clinica e confermata dall’imaging tramite risonanza magnetica ipofisaria. Il trattamento il più delle volte prevede la chirurgia transfenoidale di prima linea, che garantisce la remissionenel 50-75% dei casi. I trattamenti farmacologici hanno anch’essi un’efficacia antitumorale e antisecretoria riconosciuta, in particolare nell’acromegalia (somatostatinergici) e nei prolattinomi (dopaminergici).

Published
2024
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9. Le réseau français ENDOCAN-COMETE améliore-t-il la survie des patients atteints de corticosurrénalome ?

Author

Libe, R., primary, Coureau, G., additional, Foucan, A.S., additional, Haissaguerre, M., additional, Drui, D., additional, Grunenwald, S., additional, Castinetti, F., additional, Laboureau, S., additional, Do Cao, C., additional, Borson-Chazot, F., additional, Goichot, B., additional, Lamartina, L., additional, Chabre, O., additional, Moog, S., additional, Hescot, S., additional, Bertherat, J., additional, Tabarin, A., additional, Faron, M., additional, and Baudin, E., additional

Published
2023
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15. Acromegaly in Carney complex

Author

Cuny, T., Mac, T. T., Romanet, P., Dufour, H., Morange, I., Albarel, F., Lagarde, A., Castinetti, F., Graillon, T., North, M. O., Barlier, A., and Brue, T.

Published
2019
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17. Cushing's syndrome in the elderly: data from the European Registry on Cushing's syndrome.

Author

Amodru, V., Ferriere, A., Tabarin, A., Castinetti, F., Tsagarakis, S., Toth, M., Feelders, R.A., Webb, S.M., Reincke, M., Netea-Maier, R.T., Kastelan, D., Elenkova, A., Maiter, D., Ragnarsson, O., Santos, A., Valassi, E., Amodru, V., Ferriere, A., Tabarin, A., Castinetti, F., Tsagarakis, S., Toth, M., Feelders, R.A., Webb, S.M., Reincke, M., Netea-Maier, R.T., Kastelan, D., Elenkova, A., Maiter, D., Ragnarsson, O., Santos, A., and Valassi, E.

Abstract

Item does not contain fulltext, OBJECTIVE: To evaluate whether age-related differences exist in clinical characteristics, diagnostic approach, and management strategies in patients with Cushing's syndrome (CS) included in the European Registry on Cushing's Syndrome (ERCUSYN). DESIGN: Cohort study. METHODS: We analyzed 1791 patients with CS, of whom 1234 (69%) had pituitary-dependent CS (PIT-CS), 450 (25%) adrenal-dependent CS (ADR-CS), and 107 (6%) had an ectopic source (ECT-CS). According to the WHO criteria, 1616 patients (90.2%) were classified as younger (<65 years old) and 175 (9.8%) as older (≥65 years old). RESULTS: Older patients were more frequently males and had a lower Body Mass Index (BMI) and waist circumference when compared with the younger. Older patients also had a lower prevalence of skin alterations, depression, hair loss, hirsutism, and reduced libido, but a higher prevalence of muscle weakness, diabetes, hypertension, cardiovascular disease, venous thromboembolism, and bone fractures than younger patients, regardless of sex (P < .01 for all comparisons). Measurement of urinary free cortisol supported the diagnosis of CS less frequently in older patients when compared with the younger (P < .05). An extrasellar macroadenoma (macrocorticotropinoma with extrasellar extension) was more common in older PIT-CS patients than in the younger (P < .01). Older PIT-CS patients more frequently received cortisol-lowering medications and radiotherapy as a first-line treatment, whereas surgery was the preferred approach in the younger (P < .01 for all comparisons). When transsphenoidal surgery was performed, the remission rate was lower in the elderly when compared with their younger counterpart (P < .05). CONCLUSIONS: Older CS patients lack several typical symptoms of hypercortisolism, present with more comorbidities regardless of sex, and are more often conservatively treated.

Published
2023

18. Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants.

Author

Taïeb, D., Wanna, G.B., Ahmad, M., Lussey-Lepoutre, C., Perrier, N.D., Nölting, S., Amar, L., Timmers, H.J.L.M., Schwam, Z.G., Estrera, A.L., Lim, M., Pollom, E.L., Vitzthum, L., Bourdeau, I., Casey, R.T., Castinetti, F., Clifton-Bligh, R., Corssmit, E.P.M., Krijger, R.R. de, Rivero, J. Del, Eisenhofer, G., Ghayee, H.K., Gimenez-Roqueplo, A.P., Grossman, A., Imperiale, A., Jansen, J.C., Jha, A., Kerstens, M.N., Kunst, H.P.M., Liu, J.K., Maher, E.R., Marchioni, D., Mercado-Asis, L.B., Mete, O., Naruse, M., Nilubol, N., Pandit-Taskar, N., Sebag, F., Tanabe, A., Widimsky, J., Meuter, L., Lenders, J.W.M., Pacak, K., Taïeb, D., Wanna, G.B., Ahmad, M., Lussey-Lepoutre, C., Perrier, N.D., Nölting, S., Amar, L., Timmers, H.J.L.M., Schwam, Z.G., Estrera, A.L., Lim, M., Pollom, E.L., Vitzthum, L., Bourdeau, I., Casey, R.T., Castinetti, F., Clifton-Bligh, R., Corssmit, E.P.M., Krijger, R.R. de, Rivero, J. Del, Eisenhofer, G., Ghayee, H.K., Gimenez-Roqueplo, A.P., Grossman, A., Imperiale, A., Jansen, J.C., Jha, A., Kerstens, M.N., Kunst, H.P.M., Liu, J.K., Maher, E.R., Marchioni, D., Mercado-Asis, L.B., Mete, O., Naruse, M., Nilubol, N., Pandit-Taskar, N., Sebag, F., Tanabe, A., Widimsky, J., Meuter, L., Lenders, J.W.M., and Pacak, K.

Abstract

Item does not contain fulltext, Patients with germline SDHD pathogenic variants (encoding succinate dehydrogenase subunit D; ie, paraganglioma 1 syndrome) are predominantly affected by head and neck paragangliomas, which, in almost 20% of patients, might coexist with paragangliomas arising from other locations (eg, adrenal medulla, para-aortic, cardiac or thoracic, and pelvic). Given the higher risk of tumour multifocality and bilaterality for phaeochromocytomas and paragangliomas (PPGLs) because of SDHD pathogenic variants than for their sporadic and other genotypic counterparts, the management of patients with SDHD PPGLs is clinically complex in terms of imaging, treatment, and management options. Furthermore, locally aggressive disease can be discovered at a young age or late in the disease course, which presents challenges in balancing surgical intervention with various medical and radiotherapeutic approaches. The axiom-first, do no harm-should always be considered and an initial period of observation (ie, watchful waiting) is often appropriate to characterise tumour behaviour in patients with these pathogenic variants. These patients should be referred to specialised high-volume medical centres. This consensus guideline aims to help physicians with the clinical decision-making process when caring for patients with SDHD PPGLs.

Published
2023

21. Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

Author

van Haalen, F. M., Kaya, M., Pelsma, I. C.M., Dekkers, O. M., Biermasz, N. R., Cannegieter, S. C., Huisman, M. V., van Vlijmen, B. J.M., Feelders, R., Klok, F. A., Pereira, A. M., Stochholm, K., Fliers, E., Castinetti, F., Brue, T., Bertherat, J., Scaroni, C., Colao, A., Giordano, R., Druce, M. R., Beckers, A., Spranger, J., Driessens, N., Maiter, D., Feldt-Rasmussen, U., Webb, S. M., Dattani, M., Husebye, E., Zilaitiene, B., Gaztambide, S., Gatto, F., Ferone, D., Persani, L., Chiodini, I., Höybye, C., Meijer, O. C., Reincke, M., Vila, G., Perry, C., Heck, A., Stancampiano, M. R., van de Ven, A., Johannsson, G., Ragnarsson, O., Tóth, M., Life Course Epidemiology (LCE), Endocrinology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Epidemiology and Data Science, APH - Aging & Later Life, APH - Societal Participation & Health, and Internal Medicine

Subjects
Hemostasis, Endometriosis, Hypercortisolism, Anticoagulants, Cushing's syndrome, General Medicine, macromolecular substances, Guidelines, Endocrine System Diseases, Endo-ERN survey, Rare Diseases, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Cushing’s syndrome, Humans, Pharmacology (medical), Female, Thromboprophylaxis, Cushing Syndrome, Genetics (clinical), Venous thromboembolism
Abstract

Background Cushing’s syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are currently lacking. We aimed to map the current clinical practice for thromboprophylaxis management in patients with CS across reference centers (RCs) of the European Reference Network on Rare Endocrine Conditions (Endo-ERN), which are endorsed specifically for the diagnosis and treatment of CS. Using the EU survey tool, a primary screening survey, and subsequently a secondary, more in-depth survey were developed. Results The majority of the RCs provided thromboprophylaxis to patients with CS (n = 23/25), although only one center had a standardized thromboprophylaxis protocol (n = 1/23). RCs most frequently started thromboprophylaxis from CS diagnosis onwards (n = 11/23), and the majority stopped thromboprophylaxis based on individual patient characteristics, rather than standardized treatment duration (n = 15/23). Factors influencing the initiation of thromboprophylaxis were ‘medical history of VTE’ (n = 15/23) and ‘severity of hypercortisolism’ (n = 15/23). Low-Molecular-Weight-Heparin was selected as the first-choice anticoagulant drug for thromboprophylaxis by all RCs (n = 23/23). Postoperatively, the majority of RCs reported ‘severe immobilization’ as an indication to start thromboprophylaxis in patients with CS (n = 15/25). Most RCs (n = 19/25) did not provide standardized testing for variables of hemostasis in the postoperative care of CS. Furthermore, the majority of the RCs provided preoperative medical treatment to patients with CS (n = 23/25). About half of these RCs (n = 12/23) took a previous VTE into account when starting preoperative medical treatment, and about two-thirds (n = 15/23) included ‘reduction of VTE risk’ as a goal of treatment. Conclusions There is a large practice variation regarding thromboprophylaxis management and perioperative medical treatment in patients with CS, even in Endo-ERN RCs. Randomized controlled trials are needed to establish the optimal prophylactic anticoagulant regimen, carefully balancing the increased risk of (perioperative) bleeding, and the presence of additional risk factors for thrombosis.

Published
2022

23. Craniopharyngiome chez l’adulte : une étude de cohorte française

Author

Cuny, T., primary, Loiseau, Pr H., additional, Alkhiami, F., additional, Castinetti, F., additional, Albarel, F., additional, Graillon, T., additional, Ramaroson, H., additional, Morange, I., additional, Tabarin, A., additional, Brue, T., additional, Dufour, H., additional, and Gatta-Cherifi, B., additional

Published
2022
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25. Évolution de l’approche thérapeutique multimodale dans l’acromégalie au cours des 2 dernières décennies dans un centre de référence français : le projet acrotime

Author

Amodru, V., primary, Sahakian, N., additional, Piazzola, C., additional, Graillon, T., additional, Cuny, T., additional, Romanet, P., additional, Appay, R., additional, Morange, I., additional, Albarel, F., additional, Vermalle, M., additional, Figarella-Branger, D., additional, Barlier, A., additional, Regis, J., additional, Dufour, H., additional, Brue, T., additional, and Castinetti, F., additional

Published
2022
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27. Corticotroph tumor progression after bilateral adrenalectomy: data from ERCUSYN

Author

Valassi, E., Castinetti, F., Ferriere, A., Tsagarakis, S., Feelders, R.A., Netea-Maier, R.T., Droste, M., Strasburger, C.J., Maiter, D., Kastelan, D., Chanson, P., Webb, S.M., Demtröder, F., Pirags, V., Chabre, O., Franz, H., Santos, A., Reincke, M., Valassi, E., Castinetti, F., Ferriere, A., Tsagarakis, S., Feelders, R.A., Netea-Maier, R.T., Droste, M., Strasburger, C.J., Maiter, D., Kastelan, D., Chanson, P., Webb, S.M., Demtröder, F., Pirags, V., Chabre, O., Franz, H., Santos, A., and Reincke, M.

Abstract

Item does not contain fulltext, Corticotroph tumor progression after bilateral adrenalectomy/Nelson's syndrome (CTP-BADX/NS) is a severe complication of bilateral adrenalectomy (BADX). The aim of our study was to investigate the prevalence, presentation and outcome of CTP-BADX/NS in patients with Cushing's disease (CD) included in the European Registry on Cushing's Syndrome (ERCUSYN). We examined data on 1045 CD patients and identified 85 (8%) who underwent BADX. Of these, 73 (86%) had follow-up data available. The median duration of follow-up since BADX to the last visit/death was 7 years (IQR 2-9 years). Thirty-three patients (45%) experienced CTP-BADX/NS after 3 years (1.5-6) since BADX. Cumulative progression-free survival was 73% at 3 years, 66% at 5 years and 46% at 10 years. CTP-BADX/NS patients more frequently had a visible tumor at diagnosis of CD than patients without CTP-BADX/NS (P < 0.05). Twenty-seven CTP-BADX/NS patients underwent surgery, 48% radiotherapy and 27% received medical therapy. The median time since diagnosis of CTP-BADX/NS to the last follow-up visit was 2 years (IQR, 1-5). Control of tumor progression was not achieved in 16 of 33 (48%) patients, of whom 8 (50%) died after a mean of 4 years. Maximum adenoma size at diagnosis of CD was associated with further tumor growth in CTP-BADX/NS despite treatment (P = 0.033). Diagnosis of CTP-BADX/NS, older age, greater UFC levels at diagnosis of CD and initial treatment predicted mortality. In conclusion, CTP-BADX/NS was reported in 45% of the ERCUSYN patients who underwent BADX, and control of tumor growth was reached in half of them. Future studies are needed to establish effective strategies for prevention and treatment.

Published
2022

28. Évaluation de l’utilisation de la métyrosine chez les patients atteints de paragangliomes et phéochromocytomes : résultats de l’étude nationale multicentrique FREUD (FREnch descriptive study on the Use of Demser®)

Author

Vrignaud, S., Ferrao, D., Moog, S., Lasolle, H., Do Cao, C., Espiard, S., Libe, R., Guignat, L., Thomeret, L., Bouillet, B., Haissaguerre, M., Rousseau, D., Illouz, F., Lejeune, S., Pinto, S., Baltzinger, P., Droumaguet, C., Tauveron, I., Vaillant, C., Drutel, A., Cornu, E., Paepegaey, A.C., Castinetti, F., Drui, D., Lugat, A., Chevalier, N., Azizi, M., Amar, L., and Mallart-Riancho, J.

Abstract

Les paragangliomes et phéochromocytomes sont des tumeurs rares pouvant entraîner des symptômes tels qu’une hypertension artérielle (HTA) non contrôlée, des céphalées, des sueurs, des palpitations ou une constipation secondaires à une sécrétion excessive de catécholamines. La métyrosine (Demser®) vise à atténuer ces symptômes en limitant cette sécrétion, et bénéficie d’une autorisation temporaire d’utilisation en France. Son efficacité clinico-biologique ainsi que ses effets secondaires ont peu été étudiés.

Published
2024
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29. Cathétérisme des sinus pétreux sous desmopressine : une alternative au CRH pour distinguer maladie de Cushing et sécrétion ectopique d’ACTH ?

Author

Piazzola, C., Sahakian, N., Morange, I., Albarel, F., Vermalle, M., Cuny, T., Graillon, T., Girard, N., Dufour, H., Brue, T., and Castinetti, F.

Abstract

Le cathétérisme des sinus pétreux (KTSP) avec stimulation par CRH était considéré comme le « gold standard » pour différencier maladie de Cushing (MC) et sécrétion ectopique d’ACTH (EAS). Le CRH n’est désormais plus disponible.

Published
2024
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32. Meningiomas in patients with long-term exposition to progestins: Characteristics and outcome

Author

Graillon, T., primary, Boissonneau, S., additional, Appay, R., additional, Boucekine, M., additional, Peyrière, H., additional, Meyer, M., additional, Farah, K., additional, Albarel, F., additional, Morange, I., additional, Castinetti, F., additional, Brue, T., additional, Fuentes, S., additional, Figarella-Branger, D., additional, Cuny, T., additional, and Dufour, H., additional

Published
2021
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34. Utilisation de Isturisa/Osilodrostat dans le syndrome de Cushing (SC) en France, expérience en vraie vie issue du traitement de 85 patients

Author

Dormoy, A., primary, Haissaguerre, M., additional, Drui, D., additional, Demarquet, L., additional, Lassole, H., additional, Do Cao, C., additional, Guignat, L., additional, Vaillant, C., additional, Paepegaey, A., additional, Reznik, Y., additional, Lebras, M., additional, Salenave, S., additional, Raingeard, I., additional, Vantyghem, M.C., additional, François, M., additional, Luca, F., additional, Mayer, A., additional, Petit, J.M., additional, Baudin, E., additional, Chanson, P., additional, Castinetti, F., additional, Chabre, O., additional, Tabarin, A., additional, and Young, J., additional

Published
2021
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35. Adénome hypophysaire et NEM1–nouvelles données issues de la cohorte du GTE (Groupe d’étude des tumeurs endocrines)

Author

Le Bras, M., primary, Leclerc, H., additional, Rousseau, O., additional, Goudet, P., additional, Cuny, T., additional, Castinetti, F., additional, Cardot-Bauters, C., additional, Chanson, P., additional, Tabarin, A., additional, Gaujoux, S., additional, Christin-Maitre, S., additional, Ruszniewski, P., additional, Borson-Chazot, F., additional, Guilhem, I., additional, Caron, P., additional, Goichot, B., additional, Beckers, A., additional, Delemer, B., additional, Raingeard, I., additional, Verges, B., additional, Smati-Grangeon, S., additional, Wargny, M., additional, Cariou, B., additional, and Hadjadj, S., additional

Published
2021
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38. The Use Of e-REC For Capturing The Occurrence Of COVID-19 Infections In People With Rare Endocrine Conditions

Author

Bryce, J, Di Guisto, V, Ali, SR, Alexandraki, K, Badiu, C, Baronio, F, Biermasz, NR, Brandi, ML, Castinetti, F, Ceccato, F, Chifu, IO, Cools, M, Danne, T, Druce, M, Esposito, D, Falhammar, H, Fugazzola, L, Gan, HW, Giordano, R, Isidori, AM, Johannsson, G, Karavitaki, N, Linglart, A, Luger, A, Maffei, P, Marazuela, M, Jaksic, VP, Paschou, SA, Persani, L, Domingo, MP, Reisch, N, Schalin-Jantti, C, van den Akker, ELT, Vassiliadi, D, Young, J, Appelman-Dijkstra, N, Grozinsky-Glasberg, S, Pereira, AM, and Ahmed, SF

Published
2021

42. Devenir des tumeurs hypophysaires corticotropes non fonctionnelles opérées : silencieuses mais pas indolentes

Author

Sahakian, N., Goetz, L., Appay, R., Graillon, T., Piazzola, C., Regis, J., Castinetti, F., Brue, T., Dufour, H., and Cuny, T.

Abstract

Les tumeurs corticotropes silencieuses (siACTH) sont rares et habituellement plus agressives que les autres tumeurs hypophysaires (PT). Peu de facteur prédictifs de récidive postopératoire ont été identifiés. L’objectif de cette étude était d’évaluer le devenir des siACTH opérées en fonction de la classification clinicopathologique française et de comparer les caractéristiques des siACTH aux adénomes gonadotropes (siLH/FSH) et macroadénomes corticotropes fonctionnels (macroCD).

Published
2024
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43. Facteurs de risque de métastases/récidive des phéochromocytomes de grande taille (≥4cm) évalués par PET/CT

Author

Piazzola, C., Paladino, N.C., Guerin, C., Elsa, B., Cuny, T., Imperiale, A., Loundou, A., Hamidou, Z., Sarrabay, G., Castinetti, F., Pacak, K., Sebag, F., and Taieb, D.

Abstract

Plusieurs facteurs prédictifs ont été décrits concernant le risque de récurrence/métastases des phéochromocytomes. Bien que la taille de la tumeur soit considérée comme l’un d’entre eux, la littérature est entravée par l’inclusion fréquente des paragangliomes dans les études.

Published
2024
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44. ACCacia, une approche de machine-learningpour la classification moléculaire des corticosurrénalomes en routine clinique

Author

Gravrand, V., Violon, F., Birtolo, M.F., Benkhellat, M., Letourneur, F., Adoux, L., Perlemoine, K., Benanteur, N., Bonnet-Serrano, F., Gaillard, M., Libe, R., Guignat, L., Groussin, L., Bouys, L., Bessiene, L., Vaczlavik, A., Vaduva, P., Amar, L., Baudin, E., Jannin, A., Drui, D., Laboureau, S., Goichot, B., Lasolle, H., Cristante, J., Tabarin, A., Vezzosi, D., Castinetti, F., Sonnet, E., Lussey-Lepoutre, C., Lefebvre, H., Sibony, M., Bertherat, J., Jouinot, A., and Assie, G.

Abstract

Le pronostic des corticosurrénalomes est hétérogène. La classification transcriptomique sépare les adénomes (cluster « C2 ») des corticosurrénalomes et en identifie deux clusters, « C1A » et « C1B » de pronostic différent. Le RNA-seq3′ permet de déterminer le transcriptome sur tissus fixés et inclus en paraffine, même sur des ARN très dégradés, mais au prix de données manquantes sur 10 à 50 % des transcrits. Notre objectif est de tester un algorithme de réseau de neurones pour prédire la classe moléculaire en routine.

Published
2024
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45. Hypophysite : la nécéssité d’une collaboration entre endocrinologue et interniste

Author

Miquel, L., Testud, B., Albarel, F., Sahakian, N., Cuny, T., Brue, T., Schleinitz, N., Kaplanski, G., Ebbo, M., and Castinetti, F.

Abstract

L’hypophysite est une atteinte inflammatoire de l’hypophyse et/ou de l’infundibulum, pouvant entraîner des séquelles cliniques, radiologiques et hormonales. Sa caractérisation est limitée dans la littérature.

Published
2024
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46. Chirurgie des incidentalomes surrénaliens unilateraux responsables de MACS : résultats de l’etude Chiracic sur l’hypertension

Author

Tabarin, A., Espiard, S., Deutschbein, T., Mouly, C., Di Dalmazi, G., Reznik, Y., Young, J., Desailloud, R., Goichot, B., Amar, L., Drui, D., Bertherat, J., Lefebvre, H., Strasburger, C., Castinetti, F., Laboureau-Soares, S., Mercky-Fraty, M., Galioot, A., Vantyghem, M.C., Fassnacht-Capeller, M., and Gosse, P.

Abstract

Les incidentalomes corticosurrénaliens (ICS) responsables d’hypercortisolisme modéré et autonome (MACS) sont associés à une morbidité et mortalité cardiovasculaires accrues par rapport aux ICS non fonctionnels. La causalité du MACS et le bénéfice de l’exérèse des ICS demeure incertaine du fait des imperfections méthodologiques des études publiées.

Published
2024
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47. Interim analysis from prospective, multi-country, post-authorization safety study of patients with endogenous Cushing's syndrome treated with Ketoconazole HRA, using the existing European Registry on Cushing's syndrome (ERCUSYN), to assess safety and effectiveness

Author

Castinetti, F., Webb, S.M., Santos, A., Aulinas Maso, A., Zibar Tomsic, K., Amaral, C., Feelders, R., Ragnarsson, O., Ferrante, E., Ceccato, F., Chabre, O., Cristante, J., Hanzu, F., Reincke, M., Chanson, P., Tabarin, A., Duarte, J.S., Guelho, D., Fajardo, C., Rames, A., Bou Nader, M., Bertherat, J., and Brue, T.

Abstract

Ketoconazole HRA is approved for endogenous Cushing's syndrome (CS). A post-authorization safety study (PASS) in 200 CS patients>12 years is ongoing to confirm Ketoconazole safety and effectiveness. Interim data are presented below.

Published
2024
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48. Caractéristiques génétiques et phénotypiques des patients porteurs d’une néoplasie endocrinienne multiple de type 2 en France : données préliminaires d’une base nationale

Author

Sahakian, N., Prunier-Mirabeau, D., Drui, D., Borson-Chazot, F., Vecten, M., Raingeard, I., Barlier, A., Romanet, P., and Castinetti, F.

Abstract

La néoplasie endocrinienne de type 2 (NEM2), maladie rare due à des variations activatrices du proto-oncogène RET, est responsable de carcinomes médullaires thyroïdiens (CMT) et de phéochromocytomes. Malgré une corrélation génotype-phénotype connue, certaines variabilités d’expression restent mal comprises. Notre objectif est de réaliser une analyse rétrospective des caractéristiques cliniques, biologiques et génétiques des patients porteurs d’une NEM2 en France afin de mieux connaître l’histoire naturelle de la maladie et d’identifier des facteurs modificateurs d’évolution.

Published
2024
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