Abstract:
OBJECTIVE:Recently, mutations in KCNQ1, a potassium channel gene usually linked to long QT syndrome, were reported to cause maternally inherited gingival fibromatosis and growth hormone deficiency (GHD). Expression of the mutated KCNQ1 with the auxiliary potassium channel subunit KCNE2 was shown to reduce pituitary hormone secretion in functional experiments. Here, we investigated if germline mutations in KCNQ1 and KCNE2 were present in patients with somatotropinomas, which represent a model of growth hormone excess. DESIGN AND METHODS:KCNQ1 and KCNE2 were screened for germline mutations in 53 patients with acromegaly by Sanger sequencing. Effects of the variants were predicted by in silico tools. RESULTS:Only deep intronic and synonymous polymorphisms were detected in KCNQ1. These findings were likely insignificant based on in silico predictions and the variants' frequencies in the general population. In KCNE2, a heterozygous c.22A>G, p.(Thr8Ala) mutation with unknown significance was found in three patients. It was present in the database controls with a frequency of 0.0038. CONCLUSIONS:KCNQ1 or KCNE2 mutations do not appear to account for somatotropinoma formation, although larger patient series are needed to validate the findings.
journal_name
Endocr Connectjournal_title
Endocrine connectionsauthors
Iivonen AP,Känsäkoski J,Karppinen A,Kivipelto L,Schalin-Jäntti C,Karhu A,Raivio Tdoi
10.1530/EC-18-0123subject
Has Abstractpub_date
2018-05-01 00:00:00pages
645-652issue
5issn
2049-3614pii
EC-18-0123journal_volume
7pub_type
杂志文章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::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:CONTEXT:Women with polycystic ovary syndrome (PCOS) have an increased risk of cardiovascular disease (CVD), and biomarkers can be used to detect early subclinical CVD. Midregional-pro-adrenomedullin (MR-proADM), midregional-pro-atrial natriuretic peptide (MR-proANP) and copeptin are all associated with CVD and part of ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0327
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::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:OBJECTIVE:Patients with non-functioning pituitary adenomas exhibit high morbidity and mortality rates. Growth hormone deficiency and high doses of glucocorticoid substitution therapy have been identified as corresponding risk factors. Interestingly, high levels of endogenous cortisol in, e.g., patients with post-trauma...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0362
更新日期:2018-08-01 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::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::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: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
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
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, A...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0311
更新日期:2020-11-01 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::Background The combination of mitotane and platinum-etoposide chemotherapy is a front-line treatment in metastatic adrenocortical carcinoma (ACC), although this regimen shows limited efficacy. Pharmacokinetic drug-drug interaction between mitotane, a strong CYP3A4 inducer, and etoposide, which is a substrate of CYP3A4...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0428
更新日期:2018-12-01 00:00:00
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::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:The remarkable success of iodine deficiency disorders (IDD) elimination in China has been achieved through a mandatory universal salt iodization (USI) program. The study aims to estimate the relationship between urinary iodine concentration (UIC) and iodine content in edible salt to assess the current iodine ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0568
更新日期:2020-05-01 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: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::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: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: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: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: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::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::The renin-angiotensin system (RAS), mainly associated with the regulation of blood pressure, has been recently investigated in female reproductive organs and the developing foetus. Angiotensin II (Ang II) influences oviductal gamete movements and foetal development, but there is no information about RAS in the early e...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-12-0013
更新日期:2012-06-21 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:OBJECTIVE:Insulin-like growth factors are implicated in the development of diabetic nephropathy. IGF-binding protein 2 (IGFBP2) and IGF2 are expressed in the kidney, but their associations with diabetic nephropathy are unclear. We therefore tested the hypothesis that circulating levels of IGF2 and IGFBP2 predict longit...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-12-0053
更新日期:2012-10-24 00:00:00
abstract:OBJECTIVE:Metyrapone has been approved for the treatment of patients with Cushing's syndrome (CS), but only few retrospective clinical studies are available. The aim of our study was the prospective assessment of metyrapone as pre-operative treatment. DESIGN AND METHODS:Before adrenalectomy, 7 patients with ACTH-indep...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0400
更新日期:2018-09-01 00:00:00