Endo-ERN Publications Database
895 publication(s) found matching the search criteria
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(s):
van Haalen FM, Kaya M, Pelsma ICM, Dekkers OM, Biermasz NR, Cannegieter SC, Huisman MV, van Vlijmen BJM, Feelders RA, Klok FA, Pereira AM, Stochholm K, Fliers E, Castinetti F, Brue T, Bertherat J, Scaroni C, Colao A, Giordano R, Druce MR, Beckers A, Spranger J, Driessens N, Maiter D, Feldt-Rasmussen U, Feelders R, Webb SM, Dattani M, Husebye E, Zilaitiene B, Gaztambide S, Gatto F, Ferone D, Persani L, Chiodini I, Höybye C, Pereira AM, Biermasz NR, Klok FA, Dekkers OM, Meijer OC, Reincke M, Vila G, Perry C, Heck A, Stancampiano MR, van de Ven A, Johannsson G, Ragnarsson O, Tóth M, Volke V, Toumba M, Canu L, Vojtková J, Al-Mrayat M, Fassnacht M, Detomas M, Karavitaki N, van der Klauw MM, Groselj U, Elenkova A, Unuane D
Affiliated Institution / ERN:
Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication:
Orphanet Journal of Rare Diseases v17.1
Year:
2022
ORPHAcode / other:
ORPHA647758
DOI:
DOI: 10.1186/s13023-022-02320-x
Keywords:
Cushing’s syndrome,Endo-ERN survey,Guidelines,Hemostasis,Hypercortisolism,Thromboprophylaxis,Venous thromboembolism
Long-term efficacy and safety of osilodrostat in Cushing’s disease: final results from a Phase II study with an optional extension phase (LINC 2)
Author(s):
Fleseriu M, Biller BMK, Bertherat J, Young J, Hatipoglu B, Arnaldi G, O’Connell P, Izquierdo M, Pedroncelli AM, Pivonello R
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Cushing Disease
Publication:
Pituitary v25.6 p959-970
Year:
2022
ORPHAcode / other:
ORPHA96253
DOI:
10.1007/s11102-022-01280-6
Keywords:
Cortisol,Cushing’s disease,Cushing’s syndrome,Hypercortisolism,Osilodrostat,Steroidogenesis inhibitor
Behavioral Changes in Patients With Prader-Willi Syndrome Can Mask Severe Physical Illness
Author(s):
Van Loo L, Vogels A, Rochtus A
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
Prader Willi syndrome
Publication:
JCEM Case Reports v1.1
Year:
2022
ORPHAcode / other:
ORPHA739
DOI:
10.1210/jcemcr/luac034
Keywords:
Prader-Willi syndrome,behavioral changes,severe underlying illness
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
Author(s):
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus P, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections Volume11: Issue 12
Year:
2022
ORPHAcode / other:
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives
Author(s):
van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, Johannsson G, Hokken-Koelega ACS, Elbracht M, Eggermann T
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections doi.org/10.1530/EC-22-0277
Year:
2022
ORPHAcode / other:
Use of multikinase inhibitors/lenvatinib in singular thyroid cancer scenarios
Author(s):
Zafón C, Castelo B
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Non-metastatic Thyroid Carcinoma
Publication:
Cancer Medicine v11.S1 p3-4
Year:
2022
ORPHAcode / other:
ORPHA100088
Impact of gender-affirming treatment on bone health in transgender and gender diverse youth
Author(s):
Ciancia S, Dubois V, Cools M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections doi.org/10.1530/EC-22-0280
Year:
2022
ORPHAcode / other:
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism
Author(s):
Gentilini D, Muzza M, de Filippis T, Vigone MC, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi ES, Carbone E, Olivieri A, Persani L
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Permanent congenital hypothyroidism
Publication:
Journal of Endocrinological Investigation v46.2 p393-404
Year:
2022
ORPHAcode / other:
ORPHA226292
DOI:
10.1007/s40618-022-01915-2
Keywords:
Congenital diseases,Genome-wide DNA methylation,Preterm delivery,Thyroid,Thyroid dysgenesis,Twin gestation
Prader–Willi Syndrome in Adults: An Update On Nutritional Treatment and Pharmacological Approach
Author(s):
Barrea L, Vetrani C, Fintini D, de Alteriis G, Panfili FM, Bocchini S, Verde L, Colao A, Savastano S, Muscogiuri G
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Prader Willi Syndrome and Prader Willi-like Syndrome
Publication:
Current Obesity Reports v11.4 p263-276
Year:
2022
ORPHAcode / other:
ORPHA739
DOI:
10.1007/s13679-022-00478-w
Keywords:
Diet,Drugs,Ketogenic diet,Nutrition,Nutritionist,Obesity,Prader–Willi syndrome
Pediatric Graves’ orbitopathy: a multicentre study
Author(s):
Ionescu IC, van Trotsenburg PAS, Paridaens D, Tanck M, Mooij CF, Cagienard E, Kalmann R, Pakdel F, van der Meeren S, Saeed P
Affiliated Institution / ERN:
Amsterdam UMC ; Erasmus MC: University Medical Center Rotterdam ; University Medical Center Utrecht ; Leiden University Medical Center ;
Condition / Disease:
Paediatric-onset Graves disease
Publication:
Acta Ophthalmologica v100.6
Year:
2022
ORPHAcode / other:
ORPHA525731
DOI:
10.1111/aos.15084
Keywords:
Graves’ disease,Graves’ orbitopathy,orbital decompression,paediatric,rehabilitative surgery,severity,thyroid eye disease
A Critical Evaluation of the EU-virtual consultation platform (CPMS) within the European Reference Network on Rare Endocrine Conditions
Author(s):
White EK, Wagner IV, Beuzekom C van, Iotova V, Ahmed SF, Hiort O, Pereira A
Affiliated Institution / ERN:
Leiden University Medical Center ; Amsterdam UMC ; Universitätsklinikum Schleswig-Holstein ; UMHAT “Sveta Marina” (Varna) ;
Condition / Disease:
Publication:
Endocrine Connections Volume 11: Issue 11
Year:
2022
ORPHAcode / other:
Adult- and late-onset male hypogonadism: the clinical practice guidelines of the Italian Society of Andrology and Sexual Medicine (SIAMS) and the Italian Society of Endocrinology (SIE)
Author(s):
Isidori AM, Aversa A, Calogero A, Ferlin A, Francavilla S, Lanfranco F, Pivonello R, Rochira V, Corona G, Maggi M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Endocrinological Investigation v45.12 p2385-2403
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s40618-022-01859-7
Keywords:
Bone mineral density,Erectile dysfunction,Hypogonadism,Late-onset hypogonadism,Metabolic syndrome,Obesity,Testosterone
Sellar and parasellar lesions in the transition age: a retrospective Italian multi-centre study
Author(s):
Feola T, Pirchio R, Puliani G, Pofi R, Crocco M, Sada V, Sesti F, Verdecchia F, Gianfrilli D, Appetecchia M, Di Iorgi N, Jaffrain-Rea ML, Pivonello R, Isidori AM, Grossman AB, Sbardella E, Savage AM, Foresta C, Krausz C, Durante C, De Martino MC, Paoli D, Ferrigno R, Caiulo S, Minnetti M, Hasenmajer V, Pozza C, Kanakis G, Cangiano B, Tenuta M, Petrozzi A, Carlomagno F, Di Nisio A, Pallotti F, Tarsitano MG, Spaziani M, Cargnelutti F, Sabovic I, Grani G, Virili C, Cozzolino A, Stramazzo I, Filardi T, Mazzotta P
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Endocrinological Investigation v46.1 p181-188
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s40618-022-01900-9
Keywords:
Adolescence,Parasellar lesions,Pituitary tumours,Sellar,Transition age,Young adults
Time With Glucose Level in Target Range Among Children and Adolescents With Type 1 Diabetes After a Software Update to a Closed-Loop Glucose Control System
Author(s):
Marigliano M, Scaramuzza AE, Bonfanti R, Rabbone I, Schiaffini R, Toni S, Cherubini V, Abate Daga F, Bassi M, Berioli MG, Bruzzi P, Calandretti M, Carducci C, Cavalli C, Delvecchio M, Gesuita R, Giorda S, Iafusco D, Lenzi L, Lombardo F, Lo Presti D, Maffeis C, Maltoni G, Mameli C, Marino M, Piccini B, Minuto N, Mozzillo E, Piccinno E, Pignatiello C, Predieri B, Redaelli FC, Ricciardi MR, Rigamonti A, Ripoli C, Rosanio FM, Salzano G, Savastio S, Tiberi V, Tinti D, Trada M, Zanetta S, Zanfardino A, Zucchini S
Affiliated Institution / ERN:
Meyer Children’s Hospital Florence ; AOU-Bologna ;
Condition / Disease:
Publication:
JAMA Network Open v5.8 pe2228669
Year:
2022
ORPHAcode / other:
Comprehensive molecular analysis of immortalization hallmarks in thyroid cancer reveals new prognostic markers
Author(s):
Montero‐Conde C, Leandro‐García LJ, MartÃnezâMontes ÃM, Martínez P, Moya FJ, Letón R, Gil E, Martínez‐Puente N, Guadalix S, Currás‐Freixes M, García‐Tobar L, Zafon C, Jordà M, Riesco‐Eizaguirre G, González‐García P, Monteagudo M, Torres‐Pérez R, Mancikova V, Ruiz‐Llorente S, Pérez‐Martínez M, Pita G, Galofré JC, Gonzalez‐Neira A, Cascón A, Rodríguez‐Antona C, Megías D, Blasco MA, Caleiras E, Rodríguez‐Perales S, Robledo M
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Non-metastatic Thyroid Carcinoma
Publication:
Clinical and Translational Medicine v12.8
Year:
2022
ORPHAcode / other:
ORPHA100088
DOI:
10.1002/ctm2.1001
Keywords:
5p-end FISH,TERC,TERT promoter methylation,TERT promoter mutation,subtelomeric gene expression,telomere shortening
The importance of kidney calcium handling in the homeostasis of extracellular fluid calcium
Author(s):
Prot-Bertoye C, Lievre L, Houillier P
Affiliated Institution / ERN:
Reference centre for rare diseases of calcium and phosphate-HEGP ;
Condition / Disease:
Publication:
Pflügers Archiv - European Journal of Physiology v474.8 p885-900
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s00424-022-02725-4
Keywords:
Calcium-sensing receptor,Claudin,Paracellular ion transport,Parathyroid hormone,TRPV5,Tight junction,Transcellular ion transport
A nationwide survey of Italian pediatric diabetologists about COVID-19 vaccination in children and adolescents with type 1 diabetes
Author(s):
Scaramuzza AE, Cherubini V, Schiaffini R, Rabbone I, Gallo F, Fichera G, Arnaldi C, Bonfanti R, Lombardo F, De Marco R, Pascarella F, Tornese G, Bobbio A, Suprani T, Minuto N, Franceschi R, Piccinno E, Mozzillo E, Savastio S, Piccini B, Frongia AP, Mameli C, Musolino G, Toni S, Randazzo E, Frontino G, Delvecchio M, Sogno Valin P, Reinstadler P, Calcaterra V, De Sanctis L, Trada M, Coccioli MS, Guerraggio LP, Citriniti F, Lasagni A, Rutigliano I, Stamati FA, De Berardinis F, Zampolli M, Maltoni G, Fornari E, Ripoli C, Gaiero A, Sordelli S, d’Annunzio G, Predieri B, Cardinale G, Cardella F, Iafusco D, Corò A, Zucchini S, Maffeis C, Giani E, Tinti D, Cavalli C
Affiliated Institution / ERN:
Meyer Children’s Hospital Florence ; AOU-Bologna ;
Condition / Disease:
Publication:
Acta Diabetologica v59.8 p1109-1111
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s00592-022-01885-0
Keywords:
Adolescents,COVID-19,Children,Type 1 diabetes,Vaccination,Vaccine
Are there country-specific differences in the use of pegvisomant for acromegaly in clinical practice? An analysis from ACROSTUDY
Author(s):
Grottoli S, Bianchi A, Bogazzi F, Bona C, Carlsson MO, Colao A, Dassie F, Giampietro A, Gomez R, Granato S, Maffei P, Pivonello R, Prencipe N, Ragonese M, Urbani C, Cannavò S
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation v45.8 p1535-1545
Year:
2022
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s40618-022-01789-4
Keywords:
Acromegaly,Effectiveness,Pegvisomant,Real-world analysis,Safety,Treatment schemes
Multidisciplinary integrated care pathway for von Hippel–Lindau disease
Author(s):
Wolters WPG, Dreijerink KMA, Giles RH, van der Horst‐Schrivers ANA, van Nesselrooij B, Zandee WT, Timmers HJLM, Seute T, de Herder WW, Verrijn Stuart AA, Kilic E, Brinkman WM, Zondervan PJ, Vandertop WP, Daniels AB, Wolbers T, Links TP, van Leeuwaarde RS
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
VHL Syndrome
Publication:
Cancer v128.15 p2871-2879
Year:
2022
ORPHAcode / other:
ORPHA892
DOI:
10.1002/cncr.34265
Keywords:
care pathway,hemangioblastoma,pancreatic neuroendocrine tumor,renal cell carcinoma,retinal angioma,von Hippel-Lindau (VHL)
New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study
Author(s):
Gambineri A, Scarano E, Rucci P, Perri A, Tamburrino F, Altieri P, Corzani F, Cecchetti C, Dionese P, Belardinelli E, Ibarra-Gasparini D, Menabò S, Vicennati V, Repaci A, di Dalmazi G, Pelusi C, Zavatta G, Virdi A, Neri I, Fanelli F, Mazzanti L, Pagotto U
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Endocrinological Investigation v45.12 p2247-2256
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s40618-022-01853-z
Keywords:
Cancer,Cardiovascular events,Osteoporosis,Turner syndrome,Type 2 diabetes
Testosterone in men with hypogonadism and transgender males: a systematic review comparing three different preparations
Author(s):
Madsen MC, Heijer MD, Pees C, Biermasz NR, Bakker LEH
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections doi.org/10.1530/EC-22-0112
Year:
2022
ORPHAcode / other:
Health-related quality of life in patients with neuroendocrine neoplasms: a two-wave longitudinal study
Author(s):
Modica R, Scandurra C, Maldonato NM, Dolce P, Dipietrangelo GG, Centello R, Di Vito V, Giannetta E, Isidori AM, Lenzi A, Faggiano A, Colao A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Endocrinological Investigation v45.11 p2193-2200
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s40618-022-01872-w
Keywords:
HRQoL,Metastases,Neuroendocrine tumor,Quality of life,Resilience,Severity
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects
Author(s):
Kummer S, Rinné S, Seemann G, Bachmann N, Timothy K, Thornton PS, Pillekamp F, Mayatepek E, Bergmann C, Meissner T, Decher N
Affiliated Institution / ERN:
Universitätsklinikum Düsseldorf ; Charité Universitätsmedizin Berlin ;
Condition / Disease:
Diazoxide-sensitive diffuse hyperinsulinism
Publication:
International Journal of Molecular Sciences v23.15 p8097
Year:
2022
ORPHAcode / other:
ORPHA165985
MKRN3 circulating levels in Prader–Willi syndrome: a pilot study
Author(s):
Mariani M, Fintini D, Cirillo G, Palumbo S, del Giudice EM, Bocchini S, Manco M, Cappa M, Grandone A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Endocrinological Investigation v45.11 p2165-2170
Year:
2022
ORPHAcode / other:
The dopaminergic control of Cushing’s syndrome
Author(s):
Pivonello R, Pivonello C, Simeoli C, De Martino MC, Colao A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Adrenal Cushing syndrome
Publication:
Journal of Endocrinological Investigation v45.7 p1297-1315
Year:
2022
ORPHAcode / other:
ORPHA647758
DOI:
10.1007/s40618-021-01661-x
Keywords:
Cabergoline,Cushing’s disease,Cushing’s syndrome,Dopamine,Dopaminergic system
Five-Year Changes in Weight and Diabetes Status After Bariatric Surgery for Craniopharyngioma-Related Hypothalamic Obesity: a Case–Control Study
Author(s):
Faucher P, Carette C, Jannot A, Gatta-Cherifi B, Van Straaten A, Piquet M, Raverot G, Alligier M, Batisse T, Ziegler O, Drui D, Bretault M, Farigon N, Slim K, Genser L, Poghosyan T, Vychnevskaia K, Blanchard C, Robert M, Gronnier C, Poitou C, Czernichow S
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Craniopharyngioma
Publication:
Obesity Surgery v32.7 p2321-2331
Year:
2022
ORPHAcode / other:
ORPHA54595
DOI:
10.1007/s11695-022-06079-9
Keywords:
Bariatric surgery,Case–control study,Craniopharyngioma,Hypothalamic obesity,Type 2 diabetes,Weight loss
Body composition and obstructive sleep apnoea assessment in adult patients with Prader–Willi syndrome: a case control study
Author(s):
Pugliese G, Barrea L, Sanduzzi Zamparelli A, de Alteriis G, Laudisio D, Muscogiuri G, Canora A, Bocchino M, Colao A, Savastano S
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Prader Willi Syndrome and Prader Willi-like Syndrome
Publication:
Journal of Endocrinological Investigation v45.10 p1967-1975
Year:
2022
ORPHAcode / other:
ORPHA739
DOI:
10.1007/s40618-022-01831-5
Keywords:
Body composition,Genetic obesity,Obstructive sleep apnoea,Prader–Willi syndrome,Sleep-breathing disorder
Computerized tomography texture analysis of pheochromocytoma: relationship with hormonal and histopathological data
Author(s):
De Leo A, Vara G, Paccapelo A, Balacchi C, Vicennati V, Tucci L, Pagotto U, Selva S, Ricci C, Alberici L, Minni F, Nanni C, Ambrosi F, Santini D, Golfieri R, Di Dalmazi G, Mosconi C
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
Sporadic PCC/secreting PGL
Publication:
Journal of Endocrinological Investigation v45.10 p1935-1944
Year:
2022
ORPHAcode / other:
ORPHA276621
DOI:
10.1007/s40618-022-01826-2
Keywords:
Adrenal,Computed tomography,Pheocromocytoma,Radiomics,Texture analysis
Diagnostic Performance of 124I-Metaiodobenzylguanidine PET/CT in Patients with Pheochromocytoma
Author(s):
Weber M, Schmitz J, Maric I, Pabst K, Umutlu L, Walz M, Herrmann K, Rischpler C, Weber F, Jentzen W, Theurer S, Poeppel TD, Unger N, Fendler WP
Affiliated Institution / ERN:
Children's Clinical University Hospital, Riga ;
Condition / Disease:
Pheochromocytoma-paraganglioma
Publication:
Journal of Nuclear Medicine v63.6 p869-874
Year:
2022
ORPHAcode / other:
ORPHA573163
Sex differences in carcinoid syndrome: A gap to be closed
Author(s):
Ruggeri RM, Altieri B, Grossrubatcher E, Minotta R, Tarsitano MG, Zamponi V, MIsidori A, Faggiano A, Colao AM
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Publication:
Reviews in Endocrine and Metabolic Disorders v23.3 p659-669
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s11154-022-09719-8
Keywords:
Carcinoid syndrome,Epidemiology,Gender difference,Neuroendocrine tumours,Serotonin pathway,Sex