Abstract:
OBJECTIVE:Recently, a somatic point mutation of the BRAF gene (V599E) has been identified as the most common genetic event in papillary thyroid carcinoma (PTC) with a variable frequency (about 25-70%) in different series from USA, Japan, Portugal and Ukraine. DESIGN:In the present study, the genetic analysis of BRAF in an Italian cohort of 65 thyroid tumours with corresponding normal tissues and 21 thyroid benign disorders is reported. METHODS:For BRAF analysis, the somatic DNA was PCR amplified by means of specific intronic primers and PCR products were directly sequenced. Statistical analyses were obtained by means of Fisher's exact test. RESULTS:All mutations detected involved a T > A transversion at 1796 (V599E) and were heterozygous. Overall, BRAF(V599E) mutation was found in 18/56 (32.1%) PTCs. According to the histological type of the tumour, the mutation was present in 38.3% of cases of conventional PTC (18/47), in 0/6 follicular variant of PTC, in 0/3 oncocytic variant of PTC. No BRAF mutations were detected either in five follicular carcinomas, or in four poorly differentiated or undifferentiated cancers or in benign thyroid disorders. No statistically significant correlation of BRAF mutation with patient age and gender, with multicentricity of the tumour, with the lymphocytic infiltration of the tissue, with the stage and with the recurrence rate, was found. BRAF(V599E) tended to be associated, although not significantly, with a greater volume and extension of the tumour and with lymph-nodal metastases at surgery. CONCLUSIONS:In conclusion, the present study on the first Italian series of thyroid cancers shows a frequency of 38.3% of BRAF(V599E) in the classical variant of PTC, confirming the key role of this mutation in promoting tumourigenesis.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Fugazzola L,Mannavola D,Cirello V,Vannucchi G,Muzza M,Vicentini L,Beck-Peccoz Pdoi
10.1111/j.1365-2265.2004.02089.xkeywords:
subject
Has Abstractpub_date
2004-08-01 00:00:00pages
239-43issue
2eissn
0300-0664issn
1365-2265pii
CEN2089journal_volume
61pub_type
杂志文章abstract:OBJECTIVE:Final adult height is determined by both childhood and pubertal growth. The later is a function of growth velocity and bone maturation, and both are regulated by growth hormone. In a study of the safety and efficacy of GH therapy, we analysed the impact of age on bone maturation and predicted adult height. P...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb02553.x
更新日期:1994-09-01 00:00:00
abstract::The possibility that oleic acid is the thyroxine binding inhibitor in the serum of seriously ill patients was investigated. 3H-Oleic acid was shown to bind directly to human thyroxine-binding globulin (TBG) by the techniques of one and two-dimensional immunoelectrophoresis in combination with autoradiography. However,...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1989.tb00450.x
更新日期:1989-07-01 00:00:00
abstract::Growth hormone and prolactin are secreted episodically in man and experimental animals. To investigate physiologic mechanisms of GH and PRL secretion, a series of experiments were performed in individual, unanaesthetized male and female rats. GH secretion in the male rat is characterized by intermittent surges that oc...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb03335.x
更新日期:1977-01-01 00:00:00
abstract::Five patients with Bloom's syndrome aged from 2 8/12 to 27 years, all of whom had hypogonadism, were subjected to an i.v. LHRH test and two of them to an i.m. HCG test. There was increased responsiveness of plasma LH and FSH, indicating that the hypogonadism is primary in nature and of early development. The tubular e...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb02013.x
更新日期:1977-04-01 00:00:00
abstract:OBJECTIVE:Strategies to limit the final height of tall children have centred on the use of high doses of sex steroids to advance skeletal maturation. This limits therapy to the peripubertal years whereas the greatest gain in height is in the prepubertal years. Prepubertal growth is largely GH dependent and previous wor...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1995.tb02670.x
更新日期:1995-05-01 00:00:00
abstract:CONTEXT:Vitamin D deficiency is widely prevalent throughout the world. Pregnant women, neonates and infants form most vulnerable groups for vitamin D deficiency. OBJECTIVE:(1) To find prevalence of vitamin D deficiency in pregnant women. (2) To evaluate the effect of supplementation with cholecalciferol in improving v...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/cen.12751
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:The diagnosis of the nonclassical form of 21-hydroxylase (NC-21OH) deficiency, established before molecular studies, is based on basal 17OH-progesterone (17OH-P) values > 15 nmol/l or ACTH-stimulated 17OH-P values > 30 nmol/l. This disease is caused by mutations in the structural gene that can be grouped into...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2000.00995.x
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVES:Papillary thyroid microcarcinoma (PTMC) has an excellent prognosis with an indolent disease course. However, some PTMCs have an aggressive course with lateral cervical lymph node (LCLN) metastasis or distant metastasis. This study aimed to evaluate the pre-operative features of PTMC associated with LCLN meta...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13322
更新日期:2017-06-01 00:00:00
abstract:CONTEXT:To study the prevalence of thyroid dysfunction in a very large unselected population. OBJECTIVE:To determine the prevalence of abnormal thyroid function and evaluate potential modulatory factors. DESIGN AND SETTING:The Estudio de Atención Primaria de Navarra, The APNA Study, is a cross-sectional study conduct...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13764
更新日期:2018-09-01 00:00:00
abstract:CONTEXT:Teriparatide (TPTD) therapy has been proposed as a potential treatment strategy in severe cases of pregnancy- and lactation-associated osteoporosis (PLO) characterized by the occurrence of fragility fractures in the third trimester or early postpartum. OBJECTIVE:To investigate the changes in bone mineral densi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13557
更新日期:2018-05-01 00:00:00
abstract::Amniotic fluid concentrations of 3,3',5'-tri-iodothyronine (rT3), 3,3'-Di-iodothyronine (3,3'-T2), 3,5,3'-tri-iodothyronine (T3) and T4 were studied in 384 women during normal and complicated pregnancy. An inverse correlation was observed between decreasing rT3 and increasing 3,3'-T2 concentrations in amniotic fluid w...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1979.tb02090.x
更新日期:1979-04-01 00:00:00
abstract::The fundamental question in assessing an older man with a slightly low total testosterone and normal gonadotrophin levels is to determine whether or not he has clinical hypogonadism. Hypogonadism is defined as a clinical syndrome complex, which comprises both symptoms as well as biochemical testosterone deficiency. As...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03737.x
更新日期:2010-05-01 00:00:00
abstract::The response of plasma immunoreactive met-enkephalin (IR-met-enkephalin) to ethanol (8 g by mouth) after chlorpropamide (250 mg daily for 14 d) was studied in three groups of non-insulin dependent diabetics (a) six diabetics who showed chlorpropamide alcohol flush (CPAF) and in whom the reaction could be blocked by in...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb01386.x
更新日期:1984-11-01 00:00:00
abstract:OBJECTIVE:Growth hormone release in response to all known stimuli of GH secretion is blunted in obese subjects. Several studies, using d,l-fenfluramine (d,l-FF) as a serotoninergic tool, suggest that brain serotonin plays a role in the pathogenesis of this phenomenon. However, the effect of d,l-FF appears to be depende...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1996.727548.x
更新日期:1996-05-01 00:00:00
abstract::A receptor assay for TSH receptor antibodies is described in which unextracted serum, detergent solubilised TSH receptors and 125I-labelled TSH are used. The assay was rapid and reproducible with coefficients of inter-assay variation of 12.3%, 2.1 and 2.6% at mean inhibition of TSH binding values of 11, 53, and 79 res...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb00102.x
更新日期:1984-05-01 00:00:00
abstract:OBJECTIVE:This study was conducted to determine the effects of folate supplementation on inflammatory factors and biomarkers of oxidative stress among women with polycystic ovary syndrome (PCOS). DESIGN, PATIENTS AND MEASUREMENTS:This randomized, double-blind, placebo-controlled clinical trial was conducted among 69 w...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/cen.12451
更新日期:2014-10-01 00:00:00
abstract:OBJECTIVES:Widespread amyloid deposition in the thyroid gland causes diffuse, clinically apparent enlargement of the thyroid (amyloid goitre: AG). The aim of this study was to clarify the abnormalities of thyroid function in patients with AG. DESIGN:Thirty patients with secondary amyloidosis were retrospectively analy...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1841000.x
更新日期:1997-06-01 00:00:00
abstract:OBJECTIVE:Primary hyperparathyroidism (PHPT) is an uncommonly diagnosed condition among adolescents and young adults. We review the clinical characteristics of these patients based on our institutional experience. SUBJECTS:Patients aged 12-28 years treated for PHPT at our institution from 1990 to 1996 were evaluated b...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00329.x
更新日期:1998-04-01 00:00:00
abstract:CONTEXT:Transient thelarche (TT), that is, the appearance, regression and subsequent reappearance of breast buds, is a frequent phenomenon, but little is known about pubertal transition in these girls. OBJECTIVE:To describe pubertal progression, growth, genotypes, reproductive hormones and growth factors in girls with...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14248
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:Thyroid dysfunction and obesity during pregnancy have been associated with negative neonatal and obstetric outcomes. Thyroid hormone reference ranges have not been established for the pregnant Hispanic population. This study defines thyroid hormone reference ranges during early pregnancy in Chilean women and ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13127
更新日期:2016-12-01 00:00:00
abstract:INTRODUCTION:Growth hormone deficiency is considered the most important factor determining skeletal fragility in hypopituitary patients. Osteoblasts and chondrocytes express growth hormone (GH) receptor. Two GH receptor isoforms (GHRi) have been identified: they differ for the presence/absence of a protein fragment enc...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13161
更新日期:2016-11-01 00:00:00
abstract::Prolactin secretion and biological activity have been investigated in 20 females with persistent idiopathic galactorrhoea who had normal resting serum prolactin levels at presentation. Results were compared with those in 34 normal controls. Hyperprolactinaemia, which was persistent in one and intermittent in the other...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb03003.x
更新日期:1985-05-01 00:00:00
abstract:OBJECTIVE:Androgen insensitivity syndromes (AIS) in subjects with 46, XY karyotype and normal or even elevated androgen blood levels are characterized by various aberrations in male differentiation and virilization. AIS is often accompanied by a broad spectrum of abnormal binding characteristics of the androgen recepto...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1996.8600869.x
更新日期:1996-12-01 00:00:00
abstract:OBJECTIVE:In January 1997 we introduced a protocol for the treatment with GH of children with impaired growth after unfractionated total body irradiation (TBI). This study is an evaluation of that protocol. PATIENTS AND METHODS:Between January 1997 and July 2005, 66 patients (48 male) treated for haematological malign...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.2007.02930.x
更新日期:2007-10-01 00:00:00
abstract::Anorexia nervosa is associated with several abnormalities in GH secretion elicited by different stimuli. To investigate the precise mechanism of this alteration, GHRH was administered to 14 women: a group of eight anorexia nervosa patients in the acute phase of their illness and a control group of six age-matched volu...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1987.tb01181.x
更新日期:1987-11-01 00:00:00
abstract:OBJECTIVE:We wished to investigate the effects of nicotinamide and 3-aminobenzamide, well known as inhibitors of poly(ADP ribose) synthetase, on interferon-gamma-induced HLA-DR antigen expression using cultured human thyroid cells from patients with Graves' disease. DESIGN AND MEASUREMENTS:Cultured thyroid cells were ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb02907.x
更新日期:1992-01-01 00:00:00
abstract::We studied day/night (D:N) patterns of urinary sodium excretion and the 24 hour ambulatory electrocardiogram in seven normal subjects before and during the administration of T4. Thyroxine increased thyroid hormone levels within the normal range and inhibited the plasma TSH response to TRH. This was associated with a s...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb02881.x
更新日期:1983-05-01 00:00:00
abstract::Thyroid function, the clinical occurrence of goitre and ultrasonically determined thyroid gland volume were investigated in 23 patients with phenytoin- and 28 patients with carbamazepine-treated convulsive disorders and compared with matched healthy controls. In the phenytoin treated group median thyroid volume was 26...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01100.x
更新日期:1985-10-01 00:00:00
abstract:OBJECTIVE:Androgens have paradoxically different effects on hair follicles depending on body site, stimulating beard growth while inducing regression in some areas of the scalp. The mesenchyme derived dermal papilla at the base of the hair follicle regulates many aspects of the growth of follicular epithelium, and is p...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02420.x
更新日期:1993-12-01 00:00:00
abstract::In an attempt to obtain further information on the aetiology of premenstrual syndrome (PMS), the endocrine changes following enucleation of the corpus luteum in the mid-luteal phase of the cycle were studied in seven patients with PMS, and the results compared to details of seven control patients undergoing hysterecto...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb00162.x
更新日期:1985-06-01 00:00:00