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    Endo-ERN is focused on 8 main thematic groups (MTGs) which cover rare and/or complex endocrine conditions

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    • MTG8Thyroid
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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

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890 publication(s) found matching the search criteria

Sentinel lymph node detection in thyroid carcinoma using [68Ga]Ga-tilmanocept PET/CT: a proof-of-concept study


Author(s): de Vries LH, Lodewijk L, Ververs T, Poot AJ, van Rooij R, Brosens LAA, de Krijger RR, Rinkes IHMB, Vriens MR, de Keizer B
Affiliated Institution / ERN: University Medical Center Utrecht ;
Condition / Disease: Follicular thyroid carcinoma
Publication: European Journal of Nuclear Medicine and Molecular Imaging v51.2 p512-520 Year: 2024 ORPHAcode / other: ORPHA146
DOI: 10.1007/s00259-023-06449-0 Keywords: 68Ga-tilmanocept PET/CT,ICG-99mTc-nanocolloid,Sentinel lymph node,Thyroid carcinoma
MTG8

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study


Author(s): Dharmayat KI, Vallejo-Vaz AJ, Stevens CA, Brandts JM, Lyons AR, Groselj U, Abifadel M, Aguilar-Salinas CA, Alhabib K, Alkhnifsawi M, Almahmeed W, Alnouri F, Alonso R, Al-Rasadi K, Ashavaid TF, Banach M, Béliard S, Binder C, Bourbon M, Chlebus K, Corral P, Cruz D, Descamps OS, Drogari E, Durst R, Ezhov MV, Genest J, Harada-Shiba M, Holven KB, Humphries SE, Khovidhunkit W, Lalic K, Laufs U, Liberopoulos E, Roeters van Lennep J, Lima-Martinez MM, Lin J, Maher V, März W, Miserez AR, Mitchenko O, Nawawi H, Panayiotou AG, Paragh G, Postadzhiyan A, Reda A, Reiner Å, Reyes X, Sadiq F, Sahebkar A, Schunkert H, Shek AB, Stroes E, Su T, Subramaniam T, Susekov A, Vázquez Cárdenas A, Huong Truong T, Tselepis AD, Vohnout B, Wang L, Yamashita S, Al-Sarraf A, Al-Sayed N, Davletov K, Dwiputra B, Gaita D, Kayikcioglu M, Latkovskis G, Marais AD, Thushara Matthias A, Mirrakhimov E, Nordestgaard BG, Petrulioniene Z, Pojskic B, Sadoh W, Tilney M, Tomlinson B, Tybjærg-Hansen A, Viigimaa M, Catapano AL, Freiberger T, Hovingh GK, Mata P, Soran H, Raal F, Watts GF, Schreier L, Bañares V, Greber-Platzer S, Baumgartner-Kaut M, de Gier C, Dieplinger H, Höllerl F, Innerhofer R, Karall D, Lischka J, Ludvik B, Mäser M, Scholl-Bürgi S, Thajer A, Toplak H, Demeure F, Mertens A, Balligand J, Stephenne X, Sokal E, Petrov I, Goudev A, Nikolov F, Tisheva S, Yotov Y, Tzvetkov I, Hegele RA, Gaudet D, Brunham L, Ruel I, McCrindle B, Cuevas A, Perica D, Symeonides P, Trogkanis E, Kostis A, Ioannou A, Mouzarou A, Georgiou A, Stylianou A, Miltiadous G, Iacovides P, Deltas C, Vrablik M, Urbanova Z, Jesina P, Tichy L, Hyanek J, Dvorakova J, Cepova J, Sykora J, Buresova K, Pipek M, Pistkova E, Bartkova I, S|ulakova A, Toukalkova L, Spenerova M, Maly J, Benn M, Bendary A, Elbahry A, Ferrières J, Ferrieres D, Peretti N, Bruckert E, Gallo A, Valero R, Mourre F, Aouchiche K, Reynaud R, Tounian P, Lemale J, Boccara F, Moulin P, Charrières S, Di Filippo M, Cariou B, Paillard F, Dourmap C, Pradignac A, Verges B, Simoneau I, Farnier M, Cottin Y, Yelnik C, Hankard R, Schiele F, Durlach V, Sultan A, Carrié A, Rabès J, Sanin V, Schmieder RS, Ates S, Rizos CV, Skoumas I, Tziomalos K, Rallidis L, Kotsis V, Doumas M, Skalidis E, Kolovou G, Kolovou V, Garoufi A, Koutagiar I, Polychronopoulos G, Kiouri E, Antza C, Zacharis E, Attilakos A, Sfikas G, Koumaras C, Anagnostis P, Anastasiou G, Liamis G, Adamidis P, Milionis H, Lambadiari V, Stabouli S, Filippatos T, Mollaki V, Tsaroumi A, Lamari F, Proyias P, Harangi M, Reddy LL, Shah SAV, Ponde CK, Dalal JJ, Sawhney JP, Verma IC, Hosseini S, Jamialahmadi T, Alareedh M, Shaghee F, Rhadi SH, Abduljalal M, Alfil S, Kareem H, Cohen H, Leitersdorf E, Schurr D, Shpitzen S, Arca M, Averna M, Bertolini S, Calandra S, Tarugi P, Casula M, Galimberti F, Gazzotti M, Olmastroni E, Sarzani R, Ferri C, Repetti E, Giorgino F, Suppressa P, Bossi AC, Borghi C, Muntoni S, Cipollone F, Scicali R, Pujia A, Passaro A, Berteotti M, Pecchioli V, Pisciotta L, Mandraffino G, Pellegatta F, Mombelli G, Branchi A, Fiorenza AM, Pederiva C, Werba JP, Parati G, Nascimbeni F, Iughetti L, Fortunato G, Cavallaro R, Iannuzzo G, Calabrò P, Cefalù AB, Capra ME, Zambon A, Pirro M, Sbrana F, Trenti C, Minicocci I, Federici M, Del Ben M, Buonuomo PS, Moffa S, Pipolo A, Citroni N, Guardamagna O, Lia S, Benso A, Biolo GB, Maroni L, Lupi A, Bonanni L, Rinaldi E, Zenti MG, Masuda D, Mahfouz L, Jambart S, Ayoub C, Ghaleb Y, Kasim NAM, Nor NSM, Al-Khateeb A, Kadir SHSA, Chua Y, Razman AZ, Nazli SA, Ranai NM, Latif AZA, Torres MTM, Mehta R, Martagon AJ, Ramirez GAG, Antonio-Villa NE, Vargas-Vazquez A, Elias-Lopez D, Retana GG, Encinas BR, Macıas JJC, Zazueta AR, Alvarado RM, Portano JDM, Lopez HA, Sauque-Reyna L, Gomez Herrera LG, Simental Mendia LE, Aguilar HG, Cooremans ER, Aparicio BP, Zubieta VM, Gonzalez PAC, Ferreira-Hermosillo A, Portilla NC, Dominguez GJ, Garcia AYR, Arriaga Cazares HE, Gonzalez Gonzalez JR, Mendez Valencia CV, Padilla Padilla FG, Prado RM, De los Rios Ibarra MO, Arjona Villica~na RD, Acevedo Rivera KJ, Carrera RA, Alvarez JA, Amezcua Martinez JC, Barrera Bustillo MdlR, Vargas GC, Chacon RC, Figueroa Andrade MH, Ortega AF, Alcala HG, Garcia de Leon LE, Guzman BG, Gardu~no Garcia JJ, Garnica Cuellar JC, Gomez Cruz JR, Garcia AH, Holguin Almada JR, Herrera UJ, Sobrevilla FL, Rodriguez EM, Sibaja CM, Medrano Rodriguez AB, Morales Oyervides JC, Perez Vazquez DI, Reyes Rodriguez EA, Osorio MLR, Saucedo JR, Tamayo MT, Valdez Talavera LA, Vera Arroyo LE, Zepeda Carrillo EA, Galema-Boers A, Weigman A, Bogsrud MP, Malik M, Shah S, Khan SA, Rana MA, Batool H, Starostecka E, Konopka A, Lewek J, Bielecka-Dąbrowa A, Gach A, Jóźwiak J, Pajkowski M, Romanowska-Kocejko M, Żarczyńska-Buchowiecka M, Hellmann M, Chmara M, Wasąg B, Parczewska A, Gilis-Malinowska N, Borowiec-Wolna J, Stróżyk A, Michalska-Grzonkowska A, Chlebus I, Kleinschmidt M, Wojtecka A, Zdrojewski T, Myśliwiec M, Hennig M, Medeiros AM, Alves AC, Almeida AF, Lopes A, Guerra A, Bilhoto C, Simões F, Silva F, Lobarinhas G, Gama G, Palma I, Salgado JM, Matos LD, Moura Md, Virtuoso MJ, Tavares M, Ferreira P, Pais P, Garcia P, Coelho R, Ribeiro R, Correia S, Sadykova D, Slastnikova E, Alammari D, Mawlawi HA, Alsahari A, Khudary AA, Alrowaily NL, Rajkovic N, Popovic L, Singh S, Rasulic I, Petakov A, Lalic NM, Peng FK, Vasanwala RF, Venkatesh SA, Raslova K, Fabryova L, Nociar J, Šaligova J, Potočňáková L, Kozárová M, Varga T, Kadurova M, Debreova M, Novodvorsky P, Gonova K, Klabnik A, Buganova I, Battelino T, Bizjan BJ, Debeljak M, Kovac J, Mlinaric M, Molk N, Sikonja J, Sustar U, Podkrajsek KT, Muñiz-Grijalvo O, Díaz-Díaz JL, de Andrés R, Fuentes-Jiménez F, Blom D, Miserez EB, Shipton JL, Ganokroj P, Futema M, Ramaswami U, Alieva RB, Fozilov KG, Khoshimov SU, Nizamov UI, Abdullaeva GJ, Kan LE, Abdullaev AA, Zakirova DV, Do D, Nguyen M, Kim N, Le T, Le H, Santos R, Ray KK
Affiliated Institution / ERN: University Medical Centre Ljubljana ;
Condition / Disease: Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study/Familial hypercholesterolaemia
Publication: The Lancet v403.10421 p55-66 Year: 2024 ORPHAcode / other:
DOI: 10.1016/s0140-6736(23)01842-1 Keywords:

Understanding the burden of weekly somatrogon injections compared with daily somatropin injections in children with growth hormone deficiency: a plain language summary of publication


Author(s): Maniatis AK, Carakushansky M, Galcheva S, Prakasam G, Fox LA, Dankovcikova A, Loftus J, Palladino AA, Resa MdlA, Taylor CT, Dattani MT, Lebl J
Affiliated Institution / ERN: University Hospital Motol ; UMHAT “Sveta Marina” (Varna) ;
Condition / Disease: Combined pituitary hormone deficiencies, genetic forms
Publication: Therapeutic Advances in Endocrinology and Metabolism v15 Year: 2024 ORPHAcode / other: ORPHA95494
DOI: 10.1177/20420188241274363 Keywords: growth hormone,growth hormone deficiency,somatrogon,somatropin
MTG6

Longitudinal Changes in Acylated versus Unacylated Ghrelin Levels May Be Involved in the Underlying Mechanisms of the Switch in Nutritional Phases in Prader-Willi Syndrome


Author(s): Grootjen LN, Diene G, Molinas C, Beauloye V, Huisman TM, Visser JA, Delhanty PJ, Kerkhof GF, Tauber M, Hokken-Koelega AC
Affiliated Institution / ERN: CHU de Toulouse ;
Condition / Disease: Prader-Willi syndrome
Publication: Hormone Research in Paediatrics v97.4 p343-352 Year: 2024 ORPHAcode / other: ORPHA739
DOI: 10.1159/000534560 Keywords: Children,Ghrelin,Growth hormone,Infants,Prader-Willi syndrome
MTG5

Relacorilant, a Selective Glucocorticoid Receptor Modulator in Development for the Treatment of Patients With Cushing Syndrome, Does Not Cause Prolongation of the Cardiac QT Interval


Author(s): Donegan DM, Pivonello R, Stigliano A, Lardo P, Kearney T, Mezősi E, Ghigo E, Giordano R, Mariash CN, Feelders RA, Donaldson K, Darpo B, Xue H, Custodio JM, Hand AL, Moraitis AG
Affiliated Institution / ERN: AOU Federico II - Naples ; AO City of Health and Science - Turin ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease: Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication: Endocrine Practice v30.1 p11-18 Year: 2024 ORPHAcode / other: ORPHA647758
DOI: 10.1016/j.eprac.2023.09.011 Keywords: Cushing syndrome,QT interval prolongation,cardiac safety,relacorilant,selective glucocorticoid receptor modulator
MTG1

Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry


Author(s): Martos-Moreno GÃ, Rockman-Greenberg C, Ozono K, Petryk A, Kishnani PS, Dahir KM, Seefried L, Fang S, Högler W, Linglart A
Affiliated Institution / ERN: Hôpital Bicêtre ;
Condition / Disease: Hypophosphatasia
Publication: Hormone Research in Paediatrics v97.3 p233-242 Year: 2024 ORPHAcode / other: ORPHA436
DOI: 10.1159/000531865 Keywords: Alkaline phosphatase,Disease burden,Enzyme replacement therapy,Hypophophatasia
MTG2

Primary Central Nervous System Lymphoma Mimicking the Presentation of Pituitary Apoplexy: A Case Report


Author(s): Meira Goncalves J, Polónia P, Pereira J, Silva PA
Affiliated Institution / ERN: São João University Hospital(CHUSJ) ;
Condition / Disease: Pituitary Apoplexy
Publication: Cureus doi:10.7759/cureus.50912 Year: 2023 ORPHAcode / other: ORPHA95613
DOI: 10.7759/cureus.50912 Keywords: non-hodgkin’s lymphoma,pituitary apoplexy,primary central nervous system lymphoma (pcnsl),primary cns lymphoma,sellar
MTG6

MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations


Author(s): Aiello F, Palumbo S, Cirillo G, Tornese G, Fava D, Wasniewska M, Faienza MF, Bozzola M, Luongo C, Festa A, Miraglia del Giudice E, Grandone A
Affiliated Institution / ERN: AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease: MKRN3; central precocious puberty;
Publication: Journal of Endocrinological Investigation v47.6 p1477-1485 Year: 2023 ORPHAcode / other: ORPHA650182
DOI: 10.1007/s40618-023-02255-5 Keywords: Central precocious puberty,Children,MKRN3,Molecular screening,Mutation screening,Serum MKRN3
MTG7

Semaglutide and Cardiovascular Outcomes in Obesity without Diabetes


Author(s): Lincoff AM, Brown-Frandsen K, Colhoun HM, Deanfield J, Emerson SS, Esbjerg S, Hardt-Lindberg S, Hovingh GK, Kahn SE, Kushner RF, Lingvay I, Oral TK, Michelsen MM, Plutzky J, Tornøe CW, Ryan DH
Affiliated Institution / ERN: AOU - Ferrara ;
Condition / Disease: obesity
Publication: New England Journal of Medicine v389.24 p2221-2232 Year: 2023 ORPHAcode / other:
DOI: 10.1056/nejmoa2307563 Keywords:
MTG5

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children


Author(s): Cavarzere P, Pietrobelli A, Gandini A, Munari S, Baffico AM, Maffei M, Gaudino R, Guzzo A, Arrigoni M, Coviello D, Piacentini G, Antoniazzi F
Affiliated Institution / ERN: AOUI Verona ; IRCCS Istituto Giannina Gaslini, Genova ;
Condition / Disease: Laron syndrome
Publication: Journal of Endocrinological Investigation v47.5 p1237-1250 Year: 2023 ORPHAcode / other: ORPHA633
DOI: 10.1007/s40618-023-02243-9 Keywords: Genetic analysis,Growth,Next-generation sequencing (NGS),Short stature (SS),Variants of uncertain significance (VUS)
MTG5 MTG6

Teplizumab and β-Cell Function in Newly Diagnosed Type 1 Diabetes


Author(s): Ramos EL, Dayan CM, Chatenoud L, Sumnik Z, Simmons KM, Szypowska A, Gitelman SE, Knecht LA, Niemoeller E, Tian W, Herold KC
Affiliated Institution / ERN: Public Pediatric Teaching Hospital ;
Condition / Disease: diabetes type 1
Publication: New England Journal of Medicine v389.23 p2151-2161 Year: 2023 ORPHAcode / other:
DOI: 10.1056/nejmoa2308743 Keywords:
MTG3

Machine learning techniques to predict the risk of developing diabetic nephropathy: a literature review


Author(s): Mesquita F, Bernardino J, Henriques J, Raposo J, Ribeiro R, Paredes S
Affiliated Institution / ERN: APDP – Diabetes Portugal ;
Condition / Disease: diabetic nephropathy
Publication: Journal of Diabetes & Metabolic Disorders v23.1 p825-839 Year: 2023 ORPHAcode / other:
DOI: 10.1007/s40200-023-01357-4 Keywords: Clinical data,Diabetic nephropathy,Kidney disease,Machine learning,Risk prediction
MTG3

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation


Author(s): Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K
Affiliated Institution / ERN: AOU-Bologna ;
Condition / Disease: SBP2 defects - Rare thyroid signaling defect
Publication: Nature Communications v14.1 Year: 2023 ORPHAcode / other: ORPHA596426
DOI: 10.1038/s41467-023-43851-6 Keywords:
MTG8

Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out


Author(s): Ludwik KA, Opitz R, Jyrch S, Megges M, Weiner J, Beule D, Kühnen P, Stachelscheid H
Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;
Condition / Disease: X-linked Allan-Herndon-Dudley syndrome
Publication: Stem Cell Research v73 p103256 Year: 2023 ORPHAcode / other: ORPHA59; ORPHA596426; ORPHA101955;
DOI: 10.1016/j.scr.2023.103256 Keywords: Allan-Herndon-Dudley syndrome,MCT8,SLC16A2
MTG8

Autonomously functioning thyroid nodules present intermediate malignancy risk according to European Thyroid Imaging Reporting and Data System (EU-TIRADS) and yield indeterminate cytology results


Author(s): Aglaia Kyrilli, Nunzia Tacelli, Lucia Russo, Laetitia Lebrun, Isabelle Salmon, Gilles Russ, Rodrigo Moreno-Reyes, Bernard Corvilain
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;
Condition / Disease: Thyroid nodules and cancer stratification
Publication: Eur Thyroid J 2(6):e230135 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.1530/ETJ-23-0135 Keywords: utonomously functioning thyroid nodules, cytology; scintigraphy, thyroid cancer, ultrasound
MTG8

Clinical Significance of T2-Weighted Sequence Intensity on Magnetic Resonance Imaging in Clinically Non-Functioning Pituitary Adenomas


Author(s): Iglesias P, Biagetti B, Araujo-Castro M, Alcázar V, Guerrero-Pérez F, Rivero N, Casteràs A, Gómez CG, Izquierdo BG, Torres VV, Pascual-Corrales E, Pavón I, Villabona C, Cordido F, Díez JJ
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;
Condition / Disease: Pituitary adenomas
Publication: Experimental and Clinical Endocrinology & Diabetes v131.12 p631-638 Year: 2023 ORPHAcode / other: ORPHA963; ORPHA91349;
DOI: 10.1055/a-2197-3566 Keywords:
MTG6

Diagnosis and management of prolactin-secreting pituitary adenomas: a Pituitary Society international Consensus Statement


Author(s): Petersenn S, Fleseriu M, Casanueva FF, Giustina A, Biermasz N, Biller BMK, Bronstein M, Chanson P, Fukuoka H, Gadelha M, Greenman Y, Gurnell M, Ho KKY, Honegger J, Ioachimescu AG, Kaiser UB, Karavitaki N, Katznelson L, Lodish M, Maiter D, Marcus HJ, McCormack A, Molitch M, Muir CA, Neggers S, Pereira AM, Pivonello R, Post K, Raverot G, Salvatori R, Samson SL, Shimon I, Spencer-Segal J, Vila G, Wass J, Melmed S
Affiliated Institution / ERN: AOU Federico II - Naples ; Leiden University Medical Center ;
Condition / Disease: Prolactinoma
Publication: Nature Reviews Endocrinology v19.12 p722-740 Year: 2023 ORPHAcode / other: ORPHA2965
DOI: 10.1038/s41574-023-00886-5 Keywords:
MTG6

Parathyroid cancer with MTOR gene mutation: Case report and review of the literature


Author(s): Stark J, Tőke J, Huszty G, Nagy P, Bedics G, Bödör C, Tímár J, Tóth M
Affiliated Institution / ERN: Semmelweis University ;
Condition / Disease: Parathyroid carcinoma
Publication: Annales d'Endocrinologie v84.6 p761-763 Year: 2023 ORPHAcode / other: ORPHA143
DOI: 10.1016/j.ando.2023.06.003 Keywords:
MTG2

Long-term surveillance of a Von Hippel-Lindau disease pituitary stalk hemangioblastoma


Author(s): LOPES-PINTO M, LACERDA-NOBRE E, MARQUES P, BUGALHO MJ
Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease: Von Hippel-Lindau
Publication: Minerva Endocrinology v48.4 Year: 2023 ORPHAcode / other: ORPHA892
DOI: 10.23736/s2724-6507.23.03885-x Keywords:
MTG4

Subcentimetric Papillary Thyroid Carcinoma: Does the Diagnosis Kind Impact Prognosis?


Author(s): Ramalho D, Teixeira E, Cueto R, Correia S, Rocha G, Oliveira MJ, Soares P, Póvoa AA
Affiliated Institution / ERN: São João University Hospital(CHUSJ) ;
Condition / Disease: Papillary Thyroid Carcinoma
Publication: Cureus doi:10.7759/cureus.49563 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.7759/cureus.49563 Keywords: disease-free survival,papillary thyroid microcarcinoma,prognosis,recurrence,thyroid neoplasms
MTG8

Prediction of classical versus non classical papillary thyroid carcinoma subtypes from cytology of nodules classified according to TIRADS


Author(s): Scappaticcio L, Trimboli P, Bellastella G, Ferrazzano P, Clery E, Cozzolino I, Montella M, Fasano M, Pirozzi M, Ferrandes S, Docimo G, Ciardiello F, Franco R, Esposito K
Affiliated Institution / ERN: AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease: Follicular thyroid carcinoma
Publication: Endocrine v84.2 p560-570 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.1007/s12020-023-03604-3 Keywords: PTC subtypes,TI-RADS,Thyroid nodules
MTG8

Improved guidance is needed to optimise diagnostics and treatment of patients with thyroid cancer in Europe


Author(s): de la Fouchardière C, Fugazzola L, Locati LD, Alvarez CV, Peeters RP, Camacho P, Simon IM, Jarząb B, Netea-Maier R
Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ; Radboud University Medical Centre Nijmegen ;
Condition / Disease: Follicular thyroid carcinoma
Publication: Endocrine v83.3 p585-593 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.1007/s12020-023-03610-5 Keywords: Diagnosis,Guidelines,Molecular testing,Real-world evidence,Thyroid cancer
MTG8

Glycemic Control, Basal/Bolus Distribution, BMI and Meal Management in Children and Adolescents with Type 1 Diabetes and Advanced Hybrid Closed Loop


Author(s): Piccini B, Felicioni M, Pessina B, Bertini M, Casalini E, Ceccotti C, Farina S, Ferrari M, Lenzi L, Monzali F, Toni S
Affiliated Institution / ERN: Meyer Children’s Hospital Florence ;
Condition / Disease: diabetes type 1
Publication: Nutrients v15.23 p4875 Year: 2023 ORPHAcode / other:
DOI: 10.3390/nu15234875 Keywords: advanced hybrid closed loop,body mass index,carbohydrate,glycemic control,pediatric diabetes
MTG3

High Filamin a Expression in Adrenocortical Carcinomas Is Associated with a Favourable Tumour Behaviour: A European Multicentric Study


Author(s): Catalano R, Altieri B, Angelousi A, Arosio M, Bravi F, Canu L, Croci GA, Detomas M, Esposito E, Ferrante E, Ferrero S, Fuss CT, Kaltsas G, Kimpel O, Landwehr L, Luconi M, Morelli V, Nesi G, Nozza E, Sbiera S, Serban AL, Ronchi CL, Mantovani G, Peverelli E
Affiliated Institution / ERN: General Hospital of Athens “LAIKO” ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease: Adrenocortical carcinoma (ACC)
Publication: International Journal of Molecular Sciences v24.23 p16573 Year: 2023 ORPHAcode / other: ORPHA1501
DOI: 10.3390/ijms242316573 Keywords: ACC prognostic factor,IGF2,adrenocortical carcinoma,filamin A,molecular marker
MTG1

Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project


Author(s): S R Ali, J Bryce, A L Priego-Zurita, M Cherenko, C Smythe, T M de Rooij, M Cools, T Danne, H Katugampola, O M Dekkers, O Hiort, A Linglart, I Netchine, A Nordenstrom, P Attila, L Persani, N Reisch, A Smyth, Z Sumnik, D Taruscio, W E Visser, A M Pereira, N M Appelman-Dijkstra, S F Ahmed
Affiliated Institution / ERN: University Hospital Motol ; General Hospital of Athens “LAIKO” ; Hôpital Bicêtre ; Universitätsklinikum Schleswig-Holstein ; Klinikum der Universität München ; IRCCS Auxologico Italian Institute - Milan ; AOU-Bologna ;
Condition / Disease: EuRRECa - registries
Publication: Endocrine Connections 12(12):e230434 Year: 2023 ORPHAcode / other:
DOI: 10.1530/EC-23-0434 Keywords: European Reference Networks, databases, Endo-ERN, rare conditions, rare diseases, registries
MTG1 MTG2 MTG3 MTG4 MTG5 MTG6 MTG7 MTG8

Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review


Author(s): Pellikaan K, Nguyen NQC, Rosenberg AGW, Coupaye M, Goldstone AP, Høybye C, Markovic T, Grugni G, Crinò A, Caixàs A, Poitou C, Corripio R, Nieuwenhuize RM, van der Lely AJ, de Graaff LCG
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: Prader-Willi syndrome
Publication: The Journal of Clinical Endocrinology & Metabolism v108.12 pe1720-e1730 Year: 2023 ORPHAcode / other: ORPHA739
DOI: 10.1210/clinem/dgad312 Keywords: Prader-Willi syndrome,comorbidity,hypothalamo-hypophyseal system,neoplasms
MTG5

Phase 3 Trial of Selpercatinib in Advanced RET -Mutant Medullary Thyroid Cancer


Author(s): Hadoux J, Elisei R, Brose MS, Hoff AO, Robinson BG, Gao M, Jarzab B, Isaev P, Kopeckova K, Wadsley J, Führer D, Keam B, Bardet S, Sherman EJ, Tahara M, Hu MI, Singh R, Lin Y, Soldatenkova V, Wright J, Lin B, Maeda P, Capdevila J, Wirth LJ
Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;
Condition / Disease: Medullary Thyroid Cancer
Publication: New England Journal of Medicine v389.20 p1851-1861 Year: 2023 ORPHAcode / other: ORPHA1332
DOI: 10.1056/nejmoa2309719 Keywords:
MTG8

Arginine or Hypertonic Saline–Stimulated Copeptin to Diagnose AVP Deficiency


Author(s): Refardt J, Atila C, Chifu I, Ferrante E, Erlic Z, Drummond JB, Indirli R, Drexhage RC, Sailer CO, Widmer A, Felder S, Powlson AS, Hutter N, Vogt DR, Gurnell M, Soares BS, Hofland J, Beuschlein F, Fassnacht M, Winzeler B, Christ-Crain M
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease: AVP Deficiency
Publication: New England Journal of Medicine v389.20 p1877-1887 Year: 2023 ORPHAcode / other: ORPHA101957; ORPHA30925;
DOI: 10.1056/nejmoa2306263 Keywords:
MTG6

The adult growth hormone multicentric retrospective observational study: a 24-month Italian experience of adherence monitoring via Easypod™ of recombinant growth hormone treatment in adult GH deficiency


Author(s): Mancini A, Vergani E, Bruno C, Giavoli C, Spaziani M, Isidori AM, Arosio M, Pontecorvi A
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease: Growth hormone deficiency (GHD)
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA631; ORPHA101957
DOI: 10.3389/fendo.2023.1298775 Keywords: IGF-1,adherence,compliance,e-health,growth hormone,personalized medicine
MTG5 MTG6

Inflammation-based scores in benign adrenocortical tumours are linked to the degree of cortisol excess: a retrospective single-centre study


Author(s): Favero V, Prete A, Mangone A, Elhassan YS, Pucino V, Asia M, Hardy R, Chiodini I, Ronchi CL
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease: Adrenocortical carcinoma (ACC)
Publication: European Journal of Endocrinology v189.5 p517-526 Year: 2023 ORPHAcode / other: ORPHA1501
DOI: 10.1093/ejendo/lvad151 Keywords: 1 mg overnight dexamethasone suppression test,Cushing's syndrome,adrenocortical tumours,inflammation scores,mild autonomous cortisol secretion
MTG1
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