Rare diseases in clinical endocrinology: A taxonomic classification system
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Rare diseases in clinical endocrinology: A taxonomic classification system (745 views)

Marcucci G, Cianferotti L, Beck-Peccoz P, Capezzone M, Cetani F, Colao A, Davì MV, Degli Uberti E, Del Prato S, Elisei R, Faggiano A, Ferone D, Foresta C, Fugazzola L, Ghigo E, Giacchetti G, Giorgino F, Lenzi A, Malandrino P, Mannelli M, Marcocci C, Masi L, Pacini F, Opocher G, Radicioni A, Tonacchera M, Vigneri R, Zatelli MC, Brandi ML

J Endocrinol Invest (ISSN: 1720-8386, 0391-4097, 1720-8386electronic), 2015; 38(2): 193-259.

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Paper type: Journal Article,

Impact factor: 1.994, 5-year impact factor: 1.78

Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84921774107&partnerID=40&md5=2c1c52d28dff3b486ac80fea506409b0

Keywords: Endocrine Glands, Endocrinopathy, Neuroendocrine Tumors, Orphan Disease, Taxonomy, Adrenal Disease, Article, Bone Metabolism, Disease Classification, Endocrine Disease, Endocrinologist, Energy Metabolism, Hypophysis Disease, Lipid Metabolism, Mineral Metabolism, Ovary Disease, Rare Disease, Testis Disease, Thyroid Disease, Water Metabolism,

Affiliations:
*** IBB - CNR ***

Head, Bone Metablic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, Florence, Italy
Department of Clinical Sciences and Community Health, University of Milan, Endocrine Unit Fondazione IRCCS Ca' Granda, Milan, Italy
Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena Policlinico Santa Maria Alle Scotte, Siena, Italy
Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
Dipartimento di Medicina Clinica e Chirurgia, Università Federico II di Napoli, Naples, Italy
Department of Medicine, Clinic of Internal Medicine, University of Verona, Verona, Italy
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy
Section of Metabolic Diseases and Diabetes, Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy
Division of Endocrinology, Diabetology and Metabolism Department of Medical Sciences, University Hospital Città Salute e Scienza, Turin, Italy
Andrology and Metabolic Diseases, Department of Emergency and Organ Transplantation, University of Bari Aldo Moro, Bari, Italy
Section Medical Pathophysiology, Department Exp. Medicine, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy
Endocrinology Unit, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
Department of Orthopedic, Metabolic Bone Diseases Unit, AOUC-Careggi Hospital, Largo Palagi, 1, Florence, Italy
Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padua, Italy


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Rare diseases in clinical endocrinology: A taxonomic classification system

Purpose: Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced. Methods and results: This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables. Conclusions: This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment. © 2014 Italian Society of Endocrinology (SIE).
Rare diseases in clinical endocrinology: A taxonomic classification system

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Rare diseases in clinical endocrinology: A taxonomic classification system

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Verde F, Galatola R, Romeo V, Perillo T, Liuzzi R, Camera L, Klain M, Modica R, Faggiano A, Napolitano V, Colao A, Brunetti A, Maurea S
* Pancreatic Neuroendocrine Tumors in Patients with Multiple Endocrine Neoplasia Type 1: Diagnostic Value of Different MRI Sequences (19 views)
Neuroendocrinology (ISSN: 0028-3835linking), 2021; 111(7): 696-704.
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Lastoria S, Marciello F, Faggiano A, Aloj L, Caraco C, Aurilio M, D'Ambrosio L, Di Gennaro F, Ramundo V, Camera L, De LucaL, Fonti R, Napolitano V, Colao A
* Role of (68)Ga-DOTATATE PET/CT in patients with multiple endocrine neoplasia type 1 (MEN1) (259 views)
Endocrine (ISSN: 1355-008x), 2016 Jun; 52(3): 488-494.
Impact Factor: 3.131
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De Luca S, Fonti R, Palmieri G, Federico P, Del Prete G, Pacelli R, Pace L, De Placido S, Salvatore M, Del Vecchio S
* Combined Imaging With 18f-Fdg-Pet/Ct And 111in-Labeled Octreotide Spect For Evaluation Of Thymic Epithelial Tumors (349 views)
Clin Nucl Med (ISSN: 1536-0229, 0363-3976, 0363-9762), 2013; 38(5): 354-358.
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Faggiano A, Ramundo V, Del Prete M, Marotta V, Marciello F, Camera L, Napolitano V,  de LucaL, Lombardi G, Colao A
* Long-Acting Somatostatin Analogues are Highly Effective in Patients with Early Stage MEN-1-Related Well-Differentiated Neuroendocrine Tumors (223 views)
Neuroendocrinology (ISSN: 0028-3835, 0028-3835linking), 2012; 96: N/D-N/D.
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Pulcrano M, Camera L, Pagano L, Del Vecchio S, Ferone D, Bodei L, Murgia A, Pace L, Storto G, Paganelli G, Colao A, Salvatore M, Lombardi G, Biondi B
* Usefulness of [(111)In-DTPA(0)] octreotide scintigraphy in a family with von Hippel-Lindau disease (359 views)
J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 2008 Apr; 31(4): 352-359.
Impact Factor: 1.888
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Maurea S, Imbriaco M, D'Angelillo M, Mollica C, Camera L, Salvatore M
* Diagnostic accuracy of chemical-shift MR imaging to differentiate between adrenal adenomas and non adenoma adrenal lesions (327 views)
Radiol Med (ISSN: 0033-8362, 1826-6983, 1826-6983electronic), 2006 Sep; 111(5): 674-686.
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Tauchmanovà L, Pensabene M, Capuano I, Spagnoletti I, Zeppa P, Del Vecchio S, Mainenti PP, De Rosa G, Colao A, Contegiacomo A
* Poorly differentiated small cell neuroendocrine carcinoma localized in three different endocrine glands: Response to chemotherapy and octreotide LAR (328 views)
J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 2005 Apr; 28(4): 371-378.
Impact Factor: 1.496
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Aloj L, Caracò C, Panico M, Zannetti A, Del Vecchio S, Tesauro D, De Luca S, Arra C, Pedone C, Morelli G, Salvatore M
* In vitro and in vivo evaluation of In-111-DTPAGlu-G-CCK8 for cholecystokinin-B receptor imaging (587 views)
J Nucl Med (ISSN: 1535-5667, 0161-5505, 1535-5667electronic), 2004 Mar; 45(3): 485-494.
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Aloj L, Panico M, Caraco C, Del Vecchio S, Arra C, Affuso A, Accardo A, Mansi R, Tesauro D, De Luca S, Pedone C, Visentin R, Mazzi U, Morelli G, Salvatore M
* In vitro and in vivo characterization of Indium-111 and Technetium-99m labeled CCK-8 derivatives for CCK-B receptor imaging (519 views)
Cancer Biotherapy And Radiopharmaceuticals (ISSN: 1084-9785, 1084-4978), 2004 Feb; 19(1): 93-98.
Impact Factor: 1.091
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Camera L, Del Vecchio S, Quarantelli M, Ibello F, Pellegrino T, Salvatore M
* Radiolabeled somatostatin analogs in the diagnosis and staging of neuroendocrine tumors (329 views)
J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 2003; 26(8Suppl): 60-62.
Impact Factor: 1.621
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Colao A, Lastoria S, Ferone D, Varrella P, Marzullo P, Pivonello R, Cerbone G, Acampa W, Salvatore M, Lombardi G
The pituitary uptake of In-111-DTPA-D-Phe(1)-octreotide in the normal pituitary and in pituitary adenomas (387 views)
J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 1999 Mar; 22(3): 176-183.
Impact Factor: 0.957
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Lastoria S, Maurea S, Vergara E, Acampa W, Varrella P, Klain M, Muto P, Bernardy JD, Salvatore M
Comparison of labeled MIBG and somatostatin analogs in imaging neuroendocrine tumors (336 views)
Q J Nucl Med (ISSN: 1125-0135, 1124-3937), 1995 Dec; 39(4Suppl1): 145-149.
Impact Factor: 2.125
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12 Records (11 excluding Abstracts).
Total impact factor: 29.704 (26.167 excluding Abstracts).
Total 5 year impact factor: 30.854 (27.226 excluding Abstracts).

Last modified by Marco Comerci on Sunday 12 July 2020, 13:14:50
745 views. Last view on Sunday 19 March 2023, 17:20:42