Abstract:
:The PI3K-Akt-mTOR pathway plays a central role in the development of non-medullary thyroid carcinoma (NMTC). Although somatic mutations have been identified in these genes in NMTC patients, the role of germline variants has not been investigated. Here, we selected frequently occurring genetic variants in AKT1, AKT2, AKT3, PIK3CA and MTOR and have assessed their effect on NMTC susceptibility, progression and clinical outcome in a Dutch discovery cohort (154 patients, 188 controls) and a Romanian validation cohort (159 patients, 260 controls). Significant associations with NMTC susceptibility were observed for AKT1 polymorphisms rs3803304, rs2494732 and rs2498804 in the Dutch discovery cohort, of which the AKT1 rs3803304 association was confirmed in the Romanian validation cohort. No associations were observed between PI3K-Akt-mTOR polymorphisms and clinical parameters including histology, TNM staging, treatment response and clinical outcome. Functionally, cells bearing the associated AKT1 rs3803304 risk allele exhibit increased levels of phosphorylated Akt protein, potentially leading to elevated signaling activity of the oncogenic Akt pathway. All together, germline encoded polymorphisms in the PI3K-Akt-mTOR pathway could represent important risk factors in development of NMTC.
journal_name
Endocr Connectjournal_title
Endocrine connectionsauthors
Crezee T,Petrulea M,Piciu D,Jaeger M,Smit JWA,Plantinga TS,Georgescu CE,Netea-Maier Rdoi
10.1530/EC-20-0311subject
Has Abstractpub_date
2020-11-01 00:00:00pages
1065-1074issue
11issn
2049-3614pii
EC-20-0311journal_volume
9pub_type
杂志文章abstract:BACKGROUND:Worldwide there is a high prevalence of 25-hydroxyvitamin D (25OHD) deficiency and has been associated with adverse outcomes during pregnancy. OBJECTIVE:This is a nested, case-control study in a longitudinal cohort to compare the serum 25OHD levels and other biomarkers throughout pregnancy in a group of 20 ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0055
更新日期:2018-05-01 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:Objectives:Walking and postural balance are extremely important to obtain food and to work. Both are critical for quality of life and ability to survive. While walking reflects musculoskeletal and cardiopulmonary systems, postural balance depends on body size, muscle tone, visual, vestibular and nervous systems. Since ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0103
更新日期:2019-04-01 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::Thyroid hormones stimulate bone turnover in adults by increasing osteoclastic bone resorption. TSH suppressive therapy is usually applied in patients with differentiated thyroid cancer (DTC) to improve the disease outcome. Over the last decades several authors have closely monitored the potential harm suffered by the ...
journal_title:Endocrine connections
pub_type: 杂志文章,评审
doi:10.1530/EC-20-0167
更新日期:2020-07-01 00:00:00
abstract::Hormonal cancers affect over 400,000 men and women and contribute collectively to over 100,000 deaths in the United States alone. Thanks to advances in the understanding of these cancers at the molecular level and to the discovery of several disease-modifying therapeutics, the last decade has seen a plateauing or even...
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::Few data are available on the association between serum lipids and insulin secretion (ISEC) in children. We evaluated the association of triglycerides (TG), HDL cholesterol (HDL-C) and LDL cholesterol (LDL-C) with ISEC in 1150 non-diabetic obese children and adolescents using multivariable robust median regression. Th...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0333
更新日期:2019-10-01 00:00:00
abstract::Hypercalcemic crisis is a severe but rare complication of primary hyperparathyroidism (PHPT), and data on denosumab treatment of patients with this disease is still very limited. The aim of this paper is to investigate the hypocalcemic effect of denosumab in PHPT patients with severe hypercalcemia when surgery should ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0380
更新日期:2020-10-01 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:BACKGROUND:The Institute of Medicine 2011 Report on Dietary Reference Intakes for Calcium and Vitamin D specified higher intakes for all age groups compared to the 1997 report, but also cautioned against spurious claims about an epidemic of vitamin D deficiency and against advocates of higher intake requirements. Over ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-15-0037
更新日期:2015-09-01 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:OBJECTIVE:Little is known about how women with isolated GnRH deficiency cope with their condition. This study aimed to examine the health and informational needs of women with congenital hypogonadotropic hypogonadism (CHH) and evaluate if their experiences differ from women with more common forms of infertility. DESIG...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0095
更新日期:2017-08-01 00:00:00
abstract::Steroid hormones play clinically important and specific regulatory roles in the development, growth, metabolism, reproduction and brain function in human. The type 1 and 2 11-beta hydroxysteroid dehydrogenase enzymes (11β-HSD1 and 2) have key roles in the pre-receptor modification of glucocorticoids allowing aldostero...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0119
更新日期:2017-10-01 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::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: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::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: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::Chemerin is a recently discovered adipokine with inflammatory and metabolic actions relevant for chronic disease development. However, evidence from human research on the role of chemerin in chronic disease risk is still lacking. We assessed the reliability of plasma chemerin concentrations measured on two occasions o...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0098
更新日期:2017-07-01 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
abstract::Polycystic ovarian syndrome (PCOS) affects 18-22% of women at reproductive age. We conducted a systematic review and meta-analysis evaluating the expected benefits of lifestyle (exercise plus diet) interventions on the reproductive endocrine profile in women with PCOS. Potential studies were identified by systematical...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-14-0010
更新日期:2014-02-28 00:00:00
abstract::Promotion of brown adipose tissue (BAT) activity or browning of white adipose tissue has shown great potential as anti-obesity strategy in numerous preclinical models. The discovery of active BAT in humans and the recent advances in the understanding of human BAT biology and function have significantly propelled this ...
journal_title:Endocrine connections
pub_type: 杂志文章,评审
doi:10.1530/EC-17-0037
更新日期:2017-07-01 00:00:00
abstract::According to its incidence patterns, colorectal cancer (CRC) tends to occur more frequently in males than in females, and the evidence shows that CRC is a hormone-related tumor. These findings indicate that androgen receptor (AR) gene methylation might be important for the regulation of the CRC risk in the different s...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0122
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:Primary aldosteronism (PA) is associated with increased cardiovascular morbidity, presumably due to left ventricular (LV) hypertrophy and fibrosis. However, the degree of fibrosis has not been extensively studied. Cardiac magnetic resonance imaging (CMR) contrast enhancement and novel sensitive T1 mapping to...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0039
更新日期:2018-03-01 00:00:00
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::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::Macroprolactinomas are the most common functional pituitary tumours. Hypotheses proposed to explain predominance of large tumours in males are: i) diagnostic delay, as hyperprolactinaemia remains under recognised in males and ii) gender-specific difference in tumour proliferation indices. Our study objectives are to c...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-15-0105
更新日期:2016-01-01 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: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 ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0480
更新日期:2020-12-01 00:00:00
abstract::Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of s...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-14-0085
更新日期:2014-12-01 00:00:00