Abstract:
OBJECTIVE:The somatic point mutation in the BRAF gene, which results in a valine-to-glutamate substitution at residue 600 (BRAF(V600E)), is an ideal hallmark of papillary thyroid carcinoma (PTC). However, its prevalence is varyingly reported in different studies, and its expression in the follicular variant PTC is controversial, reducing its potential usefulness as diagnostic marker. DESIGN AND METHODS:We developed an assay based on mutant allele-specific PCR amplification (MASA) to detect BRAF mutation. We compared the sensitivity of MASA, single-strand conformation polymorphism (SSCP) and direct DNA sequencing of PCR products. Then, we used MASA 78 to analyze 78 archival thyroid tissues, including normal samples, follicular adenomas, follicular carcinomas and PTC. RESULTS:The MASA assay proved to be a more sensitive method than SSCP and DNA sequencing of PCR products. BRAF mutation was found by MASA in 19/43 (44.2%) of PTC, including 14/31 (45.2%) classic forms and 5/12 (41.7%) follicular variants. No mutations of BRAF were detected in the normal thyroid tissues, nor in follicular adenomas or follicular carcinomas. No correlation was found between BRAF mutation and clinicopathologic features nor with recurrence during a postoperative follow-up period of 4-11 years. BRAF(V600E) significantly correlated with absence of node metastasis. CONCLUSIONS:BRAF(V600E) is present in PTC, both in the classic form and in follicular variant with similar prevalence. No correlation was found between BRAF mutation and aggressive clinical behavior. MASA-PCR proved to be a specific, sensitive and reliable method to detect BRAF T1799A in DNA extracted from different sources, including cytologic samples obtained either fresh or from archival glass slides. We propose this method as a useful tool to improve accuracy of preoperative diagnosis identifying PTC from biopsies with indeterminate cytologic findings.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Sapio MR,Posca D,Troncone G,Pettinato G,Palombini L,Rossi G,Fenzi G,Vitale Mdoi
10.1530/eje.1.02072subject
Has Abstractpub_date
2006-02-01 00:00:00pages
341-8issue
2eissn
0804-4643issn
1479-683Xpii
154/2/341journal_volume
154pub_type
杂志文章abstract:OBJECTIVE:To examine local actions of nitric oxide (NO) on the neural mechanisms controlling the release of vasopressin (AVP) and the cardiovascular system in the anteroventral third ventricular region (AV3V), a pivotal area for autonomic functions, and to pursue the problem of whether it may have any role in the AVP a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1430523
更新日期:2000-10-01 00:00:00
abstract:OBJECTIVE:To investigate the association between birth weight and risk of type 2 diabetes, abdominal obesity and hypertension among Chinese adults. RESEARCH METHODS AND PROCEDURES:Nine hundred and seventy-three individuals from a population-based cross-sectional survey for the prevalence of type 2 diabetes conducted i...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02265
更新日期:2006-10-01 00:00:00
abstract:OBJECTIVE:Postmenopausal estradiol (E(2)) levels vary widely between individuals and this variation is an important determinant of diseases such as osteoporosis. It has been suggested that the estrogen receptor alpha (ESR1) gene may influence peripheral E(2) levels, but the role of common sequence variations in the ESR...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01973
更新日期:2005-08-01 00:00:00
abstract::We report our experience in treating growth delay in boys with isolated growth hormone deficiency (IGHD) receiving biosynthetic human growth hormone. The study was performed in 15 boys with IGHD receiving GH. At the chronological age of 13.1 (1.1) years (SD), 13 were prepubertal, two were in early puberty and there wa...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300065
更新日期:1994-01-01 00:00:00
abstract:OBJECTIVE:Patients with craniopharyngioma are at an increased risk for cardio- and cerebrovascular mortality. The metabolic syndrome (MetS) is an important cardiometabolic risk factor, but barely studied in patients with craniopharyngioma. We aimed to investigate the prevalence of and risk factors for the MetS and its ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-17-0387
更新日期:2018-01-01 00:00:00
abstract::Thyroid-stimulating hormone (TSH), like the other pituitary glycoprotein hormones, is produced and secreted as a mixture of isoforms, the majority of which represent differences in oligosaccharide structure and possess different bioactivity. When samples are quantified simultaneously by immunometric assay and bioassay...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1310331
更新日期:1994-10-01 00:00:00
abstract:Objective:Pancreatic neuroendocrine neoplasms (PanNENs) are rare tumors arising from the endocrine pancreas; however, their prognosis differs significantly upon their proliferative state, which is characterized by histopathological grading. MiRNAs are small, noncoding RNAs posttranscriptionally regulating gene expressi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-18-0305
更新日期:2018-10-01 00:00:00
abstract::We have identified and characterized insulin-like growth factor I (IGF-I) and IGF-II/mannose-6-phosphate (IGF-II/M6P) receptors in bovine adrenal cells. Iodine-125-labeled IGF-I ([125I]IGF-I) binding was characteristic of the IGF-I receptor, and binding kinetics as well as receptor densities were similar in cortical a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300265
更新日期:1994-03-01 00:00:00
abstract::Approximately 15 million babies are born preterm across the world every year, with less than 37 completed weeks of gestation. Survival rates increased during the last decades with the improvement of neonatal care. With premature birth, babies are deprived of the intense intrauterine growth phase, and postnatal growth ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-16-0482
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVE:Recent observational studies have established progression and recurrence rates of pituitary adenomas. However, it is still unknown how individual pituitary adenomas grow over years and whether growth kinetics follow a distinct growth model. The objective of this study was to define a growth model for non-func...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0502
更新日期:2008-03-01 00:00:00
abstract:OBJECTIVE:To investigate the prevalence of thyroid dysfunction (TD) and IgG subclasses of thyroid autoantibodies (TAs) and to determine the predictive factors of TD in chronic hepatitis C (CHC) patients. DESIGN:Three hundred and twelve untreated hepatitis C virus-infected patients without a history of TD or treatment ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-12-0775
更新日期:2013-04-15 00:00:00
abstract:OBJECTIVE:In males, the pubertal increase in sex hormone production has been associated with proatherogenic changes in lipid and carbohydrate metabolism. Aromatase inhibitors, a novel treatment modality for some growth disorders, may significantly influence these risk factors for cardiovascular disease by suppressing o...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/eje.1.02226
更新日期:2006-09-01 00:00:00
abstract::This study was designed to ascertain the long-term safety and efficacy profile of the somatostatin analogue octreotide as treatment of refractory acromegaly. Eight patients (aged 21-62 years) with persistent growth hormone (GH) elevation (duration 1-15 years) despite previous therapy were studied. Octreotide was given...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1320429
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:To assess the performance of current clinical recommendations for the evaluation of an adrenal incidentaloma. DESIGN AND METHODS LITERATURE REVIEW: Electronic databases (Pubmed, Ovid and citation searches from key articles) from 1980 to 2008 were searched. Eligible studies were those deemed most applicable to...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0234
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVE:The molecular mechanisms of TSH receptor (TSHR) activation and intramolecular signal transduction are largely unknown. Deletion of the extracellular domain (ECD) of the TSHR results in increased constitutive activity, which suggests a self-inhibitory interaction between the ECD and the extracellular loops (EC...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01891
更新日期:2005-04-01 00:00:00
abstract:CONTEXT:Measurements of plasma methoxytyramine, the O-methylated dopamine metabolite, are useful for detecting rare dopamine-producing pheochromocytomas and paragangliomas (PPGLs) and head and neck paragangliomas (HNPGLs), but utility for screening beyond that achieved using standard measurements of normetanephrine and...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-17-0077
更新日期:2017-08-01 00:00:00
abstract::The p16INK4A and p15INK4B genes on chromosome 9p21 encode the p16 and p15 inhibitors of cyclin D/cyclin-dependent kinase 4 complexes respectively. Mutations and deletions of the p16INK4A gene have been found in melanomas and many other types of tumors. To assess the role of the p16INK4A and p15NK4B genes in tumorigene...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1360074
更新日期:1997-01-01 00:00:00
abstract:OBJECTIVE:Previous evidence has suggested that a low sex hormone-binding globulin (SHBG) concentration is associated with insulin-resistance and a low adiponectin concentration. We investigated the association between SHBG and the risk of hyperglycemia in each sex and we determined potential interactions between SHBG a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0202
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVE:Surgery remains a common form of treatment for sellar and parasellar tumors involving the pituitary gland and adjacent structures. Studies have suggested that pituitary surgery procedures performed at high-volume centers are associated with less adverse outcomes, yet it remains unclear which types of patients...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0043
更新日期:2009-08-01 00:00:00
abstract:OBJECTIVE:Paraoxonase-1 (PON-1), which has PON and arylesterase activities, is a high-density lipoprotein (HDL)-bound antioxidant enzyme that inhibits atherosclerosis. Diabetes has been shown to have an impact on oxidative stress. The effect of metabolic syndrome (MetS) on oxidative stress and PON-1 has been shown befo...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0732
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVE:Adrenocorticotropic hormone (ACTH) is the primary secretagogue stimulating secretion of adrenal androgens (AA). Yet, genetic and environmental factors are assumed to play a determining role in the regulation of their biosynthesis and thus might explain the high variability of AA levels. Here we investigate th...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02015
更新日期:2005-11-01 00:00:00
abstract::Effective diabetes care requires a partnership between prepared, proactive practice teams and informed, activated patients. Diabetes education helps to overcome many of the barriers to effective self-management by enabling people with diabetes to make informed decisions about their day-to-day self-care. Both psychosoc...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.151t019
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVE:A phase I single centre, open label study of the pharmacokinetics and tolerability of a buccal testosterone tablet (COL 1621) was carried out. DESIGN:Twelve testosterone-deficient males were treated with the buccal tablet twice daily for 7 consecutive days. Multiple blood samples were drawn for testosterone,...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1500057
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:GH causes insulin resistance, impairs glycemic control and increases the risk of vascular diabetic complications. Sulphonylureas stimulate GH secretion and this study was undertaken to investigate the possible stimulatory effect of repaglinide and nateglinide, two novel oral glucose regulators, on critical st...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470133
更新日期:2002-07-01 00:00:00
abstract:OBJECTIVE:Hyperthyroidism in rats produces organ hypertrophy and increases in circulating IGF-I and IGF-binding protein (IGFBP)-3. Chronic treatment with thyroxine (T(4)) during pregnancy advances parturition, blocks lactation and changes several hormone receptors in mammary gland and liver. Since IGFs are implicated i...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460729
更新日期:2002-05-01 00:00:00
abstract::All children and adolescents with Graves' disease in the county of Uppsala (catchment area population 250,000) treated between 1970 and 1994 were evaluated in a retrospective study. The material comprised 31 patients with a mean age of 11 years (range 4-16), 29 (94%) of whom were girls, and four (13%) of the patients ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1340710
更新日期:1996-06-01 00:00:00
abstract:Introduction:Pathologically high growth hormone (GH) and insulin-like growth factor-1 (IGF-1) levels in patients with acromegaly are associated with arthropathy. Several studies highlight the potential role of the GH/IGF-1 axis in primary osteoarthritis (OA). We aimed to disentangle the role of IGF-1 levels in primary ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-20-0904
更新日期:2021-01-01 00:00:00
abstract:UNLABELLED:To improve management of patients with Graves' orbitopathy, a multi-center collaborative approach is necessary in order to have large enough sample sizes for meaningful randomized clinical trials. This is hampered by a lack of consensus on how to investigate the eye condition. The European Group on Graves' O...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/eje.0.1480491
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVES:HDLs have many diverse functions. The goal of this study was to determine the association of HDL cholesterol (HDL-C) and apolipoprotein A-I (apoA-I) with the development of type 2 diabetes (T2D). In particular, this study determined the association between the ratio of HDL-C to apoA-I (HA) and incident T2D. ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-0195
更新日期:2014-07-01 00:00:00
abstract:OBJECTIVE:To determine the benefit of periodical clinical screening of carriers of a mutation in the multiple endocrine neoplasia type 1 (MEN-1) gene, because any useful discussion requires more concrete data. DESIGN AND METHODS:Our study population consisted of all the patients with MEN-1 (n=58) who were treated at t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1490577
更新日期:2003-12-01 00:00:00