-
Je něco špatně v tomto záznamu ?
The current landscape of European registries for rare endocrine conditions
SR. Ali, J. Bryce, M. Cools, M. Korbonits, JG. Beun, D. Taruscio, T. Danne, M. Dattani, OM. Dekkers, A. Linglart, I. Netchine, A. Nordenstrom, A. Patocs, L. Persani, N. Reisch, A. Smyth, Z. Sumnik, WE. Visser, O. Hiort, AM. Pereira, SF. Ahmed,
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
NLK
Open Access Digital Library
od 1948-06-01
Open Access Digital Library
od 1997-07-01
PubMed
30407922
DOI
10.1530/eje-18-0861
Knihovny.cz E-zdroje
- MeSH
- lidé MeSH
- nemoci endokrinního systému * MeSH
- registrace * MeSH
- vzácné nemoci * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.
APHP Bicêtre Paris Sud le Kremlin Bicêtre France
Department of Pediatrics Motol University Hospital Prague Czech Republic
Diabetes Center AUF DER BULT Hannover Germany
Dutch Adrenal Network JH Soest the Netherlands
Genetics and Genomic Medicine Programme UCL GOS Institute of Child Health London UK
Medizinische Klinik und Poliklinik 4 Klinikum der Universität München Munich Germany
National Centre for Rare Diseases Istituto Superiore di Sanità Rome Italy
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc19012172
- 003
- CZ-PrNML
- 005
- 20190411113844.0
- 007
- ta
- 008
- 190405s2019 enk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1530/EJE-18-0861 $2 doi
- 035 __
- $a (PubMed)30407922
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a enk
- 100 1_
- $a Ali, S R $u Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, UK. Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.
- 245 14
- $a The current landscape of European registries for rare endocrine conditions / $c SR. Ali, J. Bryce, M. Cools, M. Korbonits, JG. Beun, D. Taruscio, T. Danne, M. Dattani, OM. Dekkers, A. Linglart, I. Netchine, A. Nordenstrom, A. Patocs, L. Persani, N. Reisch, A. Smyth, Z. Sumnik, WE. Visser, O. Hiort, AM. Pereira, SF. Ahmed,
- 520 9_
- $a Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.
- 650 12
- $a nemoci endokrinního systému $7 D004700
- 650 _2
- $a lidé $7 D006801
- 650 12
- $a vzácné nemoci $7 D035583
- 650 12
- $a registrace $7 D012042
- 651 _2
- $a Evropa $7 D005060
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Bryce, J $u Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.
- 700 1_
- $a Cools, M $u Department of Internal Medicine and Paediatrics, Ghent University. Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.
- 700 1_
- $a Korbonits, M $u Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
- 700 1_
- $a Beun, J G $u Dutch Adrenal Network (AdrenalNET), JH Soest, the Netherlands.
- 700 1_
- $a Taruscio, D $u National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
- 700 1_
- $a Danne, T $u Diabetes Center AUF DER BULT, Hannover, Germany.
- 700 1_
- $a Dattani, M $u Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, London, UK.
- 700 1_
- $a Dekkers, O M $u Departments of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands.
- 700 1_
- $a Linglart, A $u APHP, Bicêtre Paris Sud, le Kremlin Bicêtre, France.
- 700 1_
- $a Netchine, I $u Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France.
- 700 1_
- $a Nordenstrom, A $u Pediatric Endocrinology and Inborn Errors of Metabolism, Karolinska University Hospital, Stockholm, Sweden.
- 700 1_
- $a Patocs, A $u Department of Laboratory Medicine, Clinical Genetics and Endocrinology Laboratory, Semmelweis University, Budapest, Hungary.
- 700 1_
- $a Persani, L $u Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano. Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
- 700 1_
- $a Reisch, N $u Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.
- 700 1_
- $a Smyth, A $u Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.
- 700 1_
- $a Sumnik, Z $u Department of Pediatrics, Motol University Hospital, Prague, Czech Republic.
- 700 1_
- $a Visser, W E $u Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, the Netherlands.
- 700 1_
- $a Hiort, O $u Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
- 700 1_
- $a Pereira, A M $u Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands.
- 700 1_
- $a Ahmed, S F $u Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, UK. Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.
- 773 0_
- $w MED00009634 $t European journal of endocrinology $x 1479-683X $g Roč. 180, č. 1 (2019), s. 89-98
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/30407922 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20190405 $b ABA008
- 991 __
- $a 20190411113902 $b ABA008
- 999 __
- $a ok $b bmc $g 1391482 $s 1050477
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2019 $b 180 $c 1 $d 89-98 $i 1479-683X $m European journal of endocrinology $n Eur J Endocrinol $x MED00009634
- LZP __
- $a Pubmed-20190405
