Abstract:
OBJECTIVE:The European Reference Network on Rare Endocrine Conditions (Endo-ERN), operational since 2017, consists of 71 health care providers (HCPs) in 19 EU member states. Our objective was to assess education and knowledge on rare endocrine conditions. DESIGN AND METHODS:A survey was developed and sent through the DIGIT-EUROSURVEY system to all Endo-ERN HCPs. RESULTS:Response rate was 55% (n=146), 95% physicians, 58% >20 years of experience, 96% academics. Largest knowledge gaps were reported for the transition and neonatal ages, and for the GPs. Less than 50% of HCPs had structured educational rare diseases (RD) plans, while 86% used RD specific guidelines. HCPs would share educational materials within Endo-ERN (74%), and participate in an accreditation model (85%). E-learning portals of the endocrine scientific societies used 58% (ESPE) and 64% (ESE). Most participants (90%) regarded Endo-ERN coordinated educational activities (annual meetings slots, webinars, etc.) as highly important and supported a common educational platform. Social media was perceived as important for educating patients (86%) but not for physicians (36%). Seventy-five % had developed patient education materials; only 31% had specific children's materials, and by-country availability varied from 0% to 100%. Respondents provided newly diagnosed patients with own material in the national language (81%); referred to advocacy groups (68%), and relevant on-line sources (50%). Respondents believed European Commission should fund education through Endo-ERN. CONCLUSION:Identified knowledge gaps in rare endocrine disorders set the basis for fast catch-up through collaboration, alignment with patients' needs, and further development of existing and newly developed educational resources.
journal_name
Endocr Connectjournal_title
Endocrine connectionsauthors
Iotova V,Schalin-Jantti C,Bruegman P,Broesamle M,Bratina N,Tillmann V,Hiort O,Pereira AMdoi
10.1530/EC-20-0480subject
Has Abstractpub_date
2020-12-01 00:00:00issn
2049-3614pii
EC-20-0480.R1pub_type
杂志文章abstract:PURPOSE:Preoperative preparation for adrenalectomy for pheochromocytomas and paragangliomas (PPGL) is universally recognized as necessary, while the optimal strategy remains controversial. Our aims were to increase intraoperative hemodynamic stability, expedite postoperative recovery, decrease side effects and reduce c...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0232
更新日期:2017-11-01 00:00:00
abstract::Tumor cells require large amounts of energy to sustain growth. Through the mediated transport of glucose transporters, the uptake and utilization of glucose by tumor cells are significantly enhanced in the hypoxic microenvironment. Pituitary adenomas are benign tumors with high-energy metabolisms. We aimed to investig...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0444
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abstract::The experience in the field of islet transplantation shows that it is possible to replace β cells in a patient with type 1 diabetes (T1D), but this cell therapy is limited by the scarcity of organ donors and by the danger associated to the immunosuppressive drugs. Stem cell therapy is becoming a concrete opportunity t...
journal_title:Endocrine connections
pub_type: 杂志文章,评审
doi:10.1530/EC-18-0012
更新日期:2018-03-01 00:00:00
abstract::The rapid increase of obesity during the last decades and its future prospects are alarming. Besides the general discussed causes of obesity, the 'Developmental Origins of Health and Disease' (DOHaD) hypothesis received more attention in recent years. This hypothesis postulates an adverse influence during early develo...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0549
更新日期:2020-07-01 00:00:00
abstract::The goal of this study was to explore the relationship of the BRAFV600E mutation with clinicopathologic factors and evaluate the effect of radioactive iodine (RAI) therapy in a large group of intermediate- and high-risk papillary thyroid cancer (PTC) patients with the BRAFV600E mutation and without distant metastases....
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0045
更新日期:2019-06-01 00:00:00
abstract::The vasoactive intestinal peptide receptor 2 (VPAC2) is widely distributed throughout the body and is also overexpressed in a variety of human neoplastic tissues. However, little is known about its precise tissue distribution, regulation and function, which is in part be due to the lack of specific monoclonal anti-VPA...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-14-0051
更新日期:2015-03-01 00:00:00
abstract:Objective:Accurate measurement of steroid hormones remains challenging. Mass spectrometry affords a reliable means for quantitating steroid profiles accurately. Our objective was to establish and define (1) the extent of diurnal fluctuations in steroid concentrations that potentially necessitate strict adherence to tim...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0417
更新日期:2018-12-01 00:00:00
abstract::Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30 000-60 000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental impairments. We performed with the French Reference Centers for Rare ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-21-0013
更新日期:2021-01-01 00:00:00
abstract:Objectives:The aims of this paper were to evaluate the levels of Vitamin D (VitD) in patients with heart failure (HF), compared to a control group, to assess the effects of VitD on HF outcome and to compare VitD measurement between LIAISON immunoassay and HPLC-MS-MS methods in this population. Design and Methods:We co...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0207
更新日期:2018-09-01 00:00:00
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journal_title:Endocrine connections
pub_type: 杂志文章,评审
doi:10.1530/EC-18-0425
更新日期:2019-02-01 00:00:00
abstract::This study aimed to evaluate the evolving trends in clinicopathological features of pancreatic neuroendocrine tumors and to analyze the predictors of recurrence after curative resection. Data collected retrospectively from a single center between January 1990 and December 2017 were analyzed. Patients were categorized ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0282
更新日期:2019-07-01 00:00:00
abstract:INTRODUCTION:Patients with acromegaly can be treated with surgery, medical therapy and/or radiation therapy. For the patients not being cured with surgery, treatment with somatostatin analogues (SSAs) is the primary therapy. SSA can be taken by self- or partner-administered injections in addition to being given by a nu...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-16-0038
更新日期:2016-07-01 00:00:00
abstract::N/A. ...
journal_title:Endocrine connections
pub_type: 杂志文章,评审
doi:10.1530/EC-21-0044
更新日期:2021-01-01 00:00:00
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journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0088
更新日期:2019-04-01 00:00:00
abstract::B lymphocytes are the source of autoantibodies against the thyroid-stimulating hormone receptor (TSHR) in Graves' disease (GD). Characterization of autoimmune B-cell expression profiles might enable a better understanding of GD pathogenesis. To reveal this, the expression levels of long noncoding RNAs (lncRNAs) and mR...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0045
更新日期:2020-05-01 00:00:00
abstract::Acromegaly is a rare and insidious disease characterized by the overproduction of growth hormone (GH) and insulin-like growth factor 1 (IGF1) and is most commonly due to a pituitary adenoma. Patients with acromegaly who experience prolonged exposure to elevated levels of GH and IGF1 have an increased mortality risk an...
journal_title:Endocrine connections
pub_type: 杂志文章,评审
doi:10.1530/EC-15-0064
更新日期:2015-12-01 00:00:00
abstract:Objective:Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence o...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0163
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations of the autoimmune regulator (AIRE) gene, whose loss of function leads to the escape of self-reactive T cells from the thymus and autoimmunity. APECED patients typically develop t...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-12-0074
更新日期:2013-02-25 00:00:00
abstract::Estradiol has been used to prevent metabolic diseases, bone loss and menopausal symptoms, even though it might raise the risk of cancer. Metformin is usually prescribed for type 2 diabetes mellitus and lowers food intake and body mass while improving insulin resistance and the lipid profile. Ovariectomized rats show i...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0470
更新日期:2019-12-01 00:00:00
abstract::Vitamin D deficiency is common in pregnant women and may contribute to adverse events in pregnancy such as preeclampsia (PET). To date, studies of vitamin D and PET have focused primarily on serum concentrations vitamin D, 25-hydroxyvitamin D3 (25(OH)D3) later in pregnancy. The aim here was to determine whether a more...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0308
更新日期:2018-01-01 00:00:00
abstract::The genetic aetiology of congenital hypopituitarism (CH) is not entirely elucidated. FGFR1 and PROKR2 loss-of-function mutations are classically involved in hypogonadotrophic hypogonadism (HH), however, due to the clinical and genetic overlap of HH and CH; these genes may also be involved in the pathogenesis of CH. Us...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-15-0015
更新日期:2015-06-01 00:00:00
abstract::The role of G protein-coupled estrogen receptor 1 (GPER) signaling, including promotion of Ezrin phosphorylation (which could be activated by estrogen), has not yet been clearly identified in triple-negative breast cancer (TNBC). This study aimed to evaluate the prognostic value of GPER and Ezrin in TNBC patients. Cli...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0164
更新日期:2019-06-01 00:00:00
abstract::Growth hormone (GH) is used to treat short stature and growth failure associated with growth disorders. Birth size and GH status variably modulate response to GH therapy. The aim of this study was to determine the effect of birth size on response to GH therapy, and to determine the impact of GH status in patients born...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0286
更新日期:2018-08-23 00:00:00
abstract:BACKGROUND/AIMS:Growth failure is a difficult but key aspect of care in children with anorexia nervosa (AN). The effects of hGH therapy have not been studied. The aim was to investigate the effect of hGH treatment on height velocity (HV) in children with AN. METHODS:We carried out a retrospective observational study. ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0200
更新日期:2017-11-01 00:00:00
abstract:Background:Non-adherence to r-hGH treatments occurs in a variable percentage of subjects. One problem found when evaluating adherence is the great variability in methods of detection and definitions utilized in studies. This study assessed the level of adherence in subjects receiving r-hGH with the easypod™ electronic ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0325
更新日期:2019-09-01 00:00:00
abstract:Purpose:Gallbladder neuroendocrine neoplasm (GB-NEN) is a relatively rare neoplasm, accounting for 0.5% of all neuroendocrine neoplasm cases and 2.1% of gallbladder cancers. Because of the limited understanding of GB-NEN, the aim of this study was to explore the clinicopathology and survival of GB-NEN patients selected...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0124
更新日期:2019-09-01 00:00:00
abstract::As many as 20-55% of patients with a history of traumatic brain injury (TBI) experience chronic endocrine dysfunction, leading to impaired quality of life, impaired rehabilitation efforts and lowered life expectancy. Endocrine dysfunction after TBI is thought to result from acceleration-deceleration forces to the brai...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-16-0031
更新日期:2016-07-01 00:00:00
abstract:Objective:First-line chemotherapy in metastatic neuroendocrine carcinomas (NECs) is based on etoposide and platinum. However, there is no standard concerning second-line treatment. The objective of this study was to evaluate efficacy and tolerance of dacarbazine or temozolomide in metastatic digestive NEC as post first...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0192
更新日期:2020-06-01 00:00:00
abstract::Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system which often secrete catecholamines. Variants of the SDHX (SDHA, -AF2, -B, -C, -D) genes are a frequent cause of familial PPGLs. In this study from a single tertiary centre, we aimed to characte...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0279
更新日期:2020-08-01 00:00:00
abstract::Acromegaly is a rare disease due to chronic excess growth hormone (GH) and IGF-1. Aryl hydrocarbon receptor interacting protein (AIP) mutations are associated with an aggressive, inheritable form of acromegaly that responds poorly to SST2-specific somatostatin analogs (SSA). The role of pasireotide, an SSA with affini...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0004
更新日期:2019-04-01 00:00:00