Abstract:
OBJECTIVE:The chromosomal regions containing the two putative tumour suppressors, fragile histidine triad gene (FHIT) and tumour suppressor gene 101 (TSG101), are deleted frequently in thyroid tumours. We therefore analysed FHIT and TSG101 transcripts in a group of advanced thyroid tumours to establish their role in thyroid tumorigenesis. DESIGN:Retrospective analysis of FHIT and TSG101 mRNA transcripts and genomic DNA from cryo-preserved thyroid tumours. TP53, previously shown at the genomic level not to be mutated in this cohort of tumours, served as a control. PATIENTS:We analysed nine follicular thyroid carcinomas (FTC), six papillary thyroid carcinomas and six follicular adenomas (FA) and histologically normal thyroid tissue from four of the FA patients. MEASUREMENTS:Single stage and nested reverse transcription polymerase chain reaction (RT-PCR) products of FHIT, TSG101, and TP53 were analysed by agarose or polyacrylamide gel electrophoresis and sequenced. Genomic DNA was also analysed by polymerase chain reaction and sequencing (FHIT) or by Southern blotting (TSG101). Clinical data were correlated with the results of the mutation analysis. RESULTS:Truncated FHIT transcripts were observed frequently alongside full length transcripts with nested RT-PCR, most often in FTC, while single stage RT-PCR revealed only normal length transcripts in all tumours. Similar results were obtained for TP53, while abnormal TSG101 transcripts were detectable by single stage RT-PCR. Sequence analysis of the truncated FHIT and TSG101 transcripts revealed mainly exon skipping and alternate RNA processing events. Only a single point mutation (of TSG101) was found. Southern blotting for the TSG101 gene, and PCR amplification and sequencing of the FHIT gene showed no evidence of genomic abnormalities in either case, and there was no evidence of splice site mutations in the FHIT gene, suggesting that the truncated transcripts result from altered RNA processing. There was no relationship between tumour stage, grade or survival and the presence of FHIT or TSG101 abnormalities. CONCLUSIONS:Truncated FHIT and TSG101 transcripts in thyroid tumours reflect alternate mRNA splicing events, rather than genomic deletions. Such abnormal RNA processing seems to be common and widespread in thyroid neoplasms, as similar results were obtained by analysis of transcripts of TP53, which we had previously shown not to be mutated in these specimens. Although a pathogenetic role for these aberrant transcripts remains possible, no correlation was found with stage, histological grade or outcome in this small group of advanced thyroid malignancies. Relaxation of mRNA splice control appears to be a feature of follicular cell-derived thyroid neoplasms.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
McIver B,Grebe SK,Wang L,Hay ID,Yokomizo A,Liu W,Goellner JR,Grant CS,Smith DI,Eberhardt NLkeywords:
subject
Has Abstractpub_date
2000-06-01 00:00:00pages
749-57issue
6eissn
0300-0664issn
1365-2265pii
cen1009journal_volume
52pub_type
杂志文章abstract:OBJECTIVE:We explored the possibility of a genetic anomaly in the sex determining region of the Y chromosome, SRY gene, known to be equated to the testis determining region. PATIENTS:Four patients with bilateral congenital anorchia, absence of testicular tissue, elevated FSH and a lack of testosterone response to huma...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb00993.x
更新日期:1993-02-01 00:00:00
abstract:OBJECTIVES:There is no licensed, dose-appropriate formulation of hydrocortisone for children with adrenal insufficiency (AI) and patients rely on compounded adult medication. The aim of this study was to evaluate the absorption, palatability and safety of Infacort® , an immediate-release, granule formulation of hydroco...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13447
更新日期:2018-01-01 00:00:00
abstract::We describe a patient with multiple endocrine adenomatosis Type I, characterized by pituitary-dependent Cushing's Syndrome, marked hyperprolactinaemia, primary hyperparathyroidism and hyperinsulinism leading to hypoglycaemia. The patient subsequently developed an exocrine pancreatic carcinoma at the age of 32 years fr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb02879.x
更新日期:1983-05-01 00:00:00
abstract:OBJECTIVE AND DESIGN:The resistance of macroprolactinomas to dopamine agonist (DA) therapy, whether defined as an absence of PRL normalization or the lack of significant tumour shrinkage after prolonged treatment at high doses, is usually regarded as unpredictable. The aim of this retrospective study, conducted in a te...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02493.x
更新日期:2006-04-01 00:00:00
abstract:OBJECTIVE:The autoimmune thyroid diseases, Graves disease and autoimmune hypothyroidism, result from a complex interaction between genetic, environmental and endogenous factors. The genetic loci conferring susceptibility remain unclear. A recent report has demonstrated an association between a microsatellite polymorphi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1710996.x
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:Recovery of thyroid function in patients following hypothyroidism induced by 131I therapy for Graves' disease has been described, but only a few detailed clinical and biochemical studies of this phenomenon (transient hypothyroidism) have been published. The prevalence, mechanism, and final outcome of transien...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.d01-1737.x
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Parathyroid hormone-related protein (PTHrP) produced by cancers has a central role as a humoral mediator of hypercalcaemia in patients with malignancy. Since the prevalences of hypercalcaemia of malignancy and parathyroid disease reflect the population studied, hypercalcaemic patients from a di...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2265.1994.tb02569.x
更新日期:1994-10-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to examine (1) the diurnal variation in SHBG and (2) the inter-relationships of insulin, IGF-I, SHBG and IGFBP-1 over 24 hours in 10 women with anovulatory PCOS and compare them with weight-matched ovulatory controls. PATIENTS AND METHODS:The two groups comprised 10 anovulatory wom...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb01910.x
更新日期:1995-08-01 00:00:00
abstract::A controlled therapeutic trial on seventy-four 70-year-old women was carried out with the purpose of finding the optimal treatment for post menopausal osteoporosis. The bone mineral content (BMC) was measured by I-photonabsorptiometry at two sites in the distal part of the forearms, where the trabecular/cortical ratio...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1982.tb02769.x
更新日期:1982-05-01 00:00:00
abstract:OBJECTIVE:Because there is discordance between different immunoassay values for serum hGH, and because clinical state may not correlate with immunoreactive hGH, we have developed an assay to accurately measure serum hGH somatogenic bioactivity. The results of this assay were compared with the Elegance two-site ELISA as...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01507.x
更新日期:2002-04-01 00:00:00
abstract:OBJECTIVE:We investigated the content and compared the molecular forms of parathyroid hormone-related protein in tumour tissue, plasma and pleural fluid. DESIGN:Measurement of parathyroid hormone-related protein in tumour extracts and biological fluids and comparison of the elution profiles of parathyroid hormone-rela...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb01008.x
更新日期:1993-03-01 00:00:00
abstract:CONTEXT:In men, obesity and the metabolic syndrome are accompanied by decreased testosterone levels, but little is known about the associations between visceral adipose tissue (VAT), VAT-related inflammation and sex steroids. OBJECTIVE:To examine the relative impact of VAT, abdominal subcutaneous adipose tissue (SAT) ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04401.x
更新日期:2013-03-01 00:00:00
abstract:OBJECTIVE:Whether nonalcoholic fatty liver disease (NAFLD) can predict atherosclerosis in obese patients remains unclear. The aim of our study was to investigate the usefulness of NAFLD and other cardiometabolic parameters in predicting subclinical atherosclerosis in obese patients. DESIGN, PATIENTS AND MEASUREMENTS:W...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12698
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:The protein polymorphism of the GH receptor caused by genomic deletion of exon 3 (d3) has been linked to the magnitude of the first-year-growth response to GH in girls with Turner syndrome. Here, we studied the long-term effect of GH therapy in Turner syndrome in correlation to this polymorphism. DESIGN:The ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.03090.x
更新日期:2008-04-01 00:00:00
abstract:RATIONALE:In vitro fertilization (IVF) is a common treatment for infertility. In mice, IVF is associated with development of glucose intolerance. However, human data are limited regarding the metabolic, endocrine and inflammatory effects of IVF therapy in IVF-conceived pregnancies. OBJECTIVE:To explore effects of IVF ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14270
更新日期:2020-12-01 00:00:00
abstract:INTRODUCTION:Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma (PHEO) in all/normotensive patients with neurofibromatosis type 1 (NF1), in contrast to other PHEO-predisposing genetic syndromes such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. OBJ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13265
更新日期:2017-03-01 00:00:00
abstract::The adrenolytic agent, 2,2-bis[2-chlorophenyl-4-chlorophenyl] 1,1 dichloroethane (o,p'-DDD), was used over a 20-month period following surgery in a 2 3/12-year-old girl for treatment of adrenocortical carcinoma. The child remained free of disease and was maintained on glucocorticoid and mineralo-corticoid supplements ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb03434.x
更新日期:1984-04-01 00:00:00
abstract:OBJECTIVE:Thyroid cancer is the most common malignant endocrine tumour, and its incidence has continuously increased worldwide over the past three decades. We focused on the association of multifocal papillary thyroid carcinoma (PTC) with messenger RNA (mRNA) expression to characterize how molecular and histopathologic...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13928
更新日期:2019-04-01 00:00:00
abstract::The role of endogenous opiate peptides in puerperal hyperprolactinaemia, and in the control of TSH in hypothyroidism, has been investigated. Although exogenous opioids raise prolactin and TSH levels, 16 mg naloxone administered to women on days 2-4 of the puerperium produced no significant change in serum prolactin an...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1982.tb00722.x
更新日期:1982-03-01 00:00:00
abstract:CONTEXT:Primary hyperparathyroidism is a common condition and results in hypercalcaemia, especially in older women. Thus, it is critical to obtain a robust estimate for the upper limit of the reference interval for albumin-adjusted serum calcium in the general population. The current reference interval in use in the UK...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14326
更新日期:2021-01-01 00:00:00
abstract:OBJECTIVE:Women with Turner's syndrome (TS) have recently been shown to be at an increased risk of developing chronic liver disease. There has been some concern that oestrogen replacement therapy may exacerbate hepatic dysfunction. The aim of this study was to assess hepatic function in women with TS and to determine t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01321.x
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVE:The metabolites of steroidal hormones, including sulphate, glucuronide, and fatty acid (FA) ester derivatives, have received little attention, although these steroid derivatives are essential components in the global assessment of steroid metabolism. The study of FA-derivatives could, in obesity, contribute s...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00669.x
更新日期:1999-02-01 00:00:00
abstract::An oestrogen provocation test was performed in five healthy women during chronic intranasal treatment with 400 or 600 micrograms of the superactive LHRH agonist D-Ser(TBU)6-EA10-LHRH daily. Oestradiol benzoate 2.5 mg was administered intramuscularly after at least 3 months of LHRH agonist treatment. The serum levels o...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb03158.x
更新日期:1982-02-01 00:00:00
abstract:OBJECTIVE:To determine whether maternal vitamin D supplementation, in the vitamin D deficient mother, prevents neonatal vitamin D deficiency. DESIGN:Open-label randomized controlled trial. SETTING:Metropolitan Melbourne, Australia, tertiary hospital routine antenatal outpatient clinic. PARTICIPANTS:Seventy-eight wom...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/cen.12762
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVES:Localization of ectopic ACTH-secreting tumours causing Cushing syndrome (ECS) is essential for clinical management, yet often difficult. [68 Ga]-DOTATATE PET/CT ([68 Ga]-DOTA-(Tyr3 )-octreotate)] is an FDA-approved high-resolution diagnostic tool for imaging neuroendocrine tumours. Data on the clinical utili...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/cen.14008
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE:To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosomal dominant disorders...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02460.x
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age. Some evidence suggests that dysbiosis of the gut microbiota could be associated with PCOS clinical parameters, but little is known for the association between vaginal microbiome and PCOS. OBJECTIVE:To determine ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14198
更新日期:2020-07-01 00:00:00
abstract:OBJECTIVES:Plasma C-reactive protein (CRP) is associated with cardiovascular disease (CVD), but effects may vary by gender and degree of CVD risk. Whether CRP has value as a CVD risk marker in type-2 diabetes (T2DM) is unclear. We examined whether CRP has gender differences in association with coronary artery calcium (...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03879.x
更新日期:2011-01-01 00:00:00
abstract::Patients with thyrotoxic Graves' disease were treated daily for 10 d with 1 g sodium ipodate, an iodine rich X-ray contrast agent which impairs outer ring (5'-) deiodination of T4 to T3, or with 12 drops of a saturated solution of potassium iodide (SSKI). T4, T3 and reverse T3 (rT3) concentrations were measured before...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb00148.x
更新日期:1985-04-01 00:00:00
abstract:OBJECTIVE:No single histological or molecular marker is diagnostic for malignant phaeochromocytomas and paragangliomas (PPGLs). This study aimed to establish and evaluate a prognostic nomogram to improve the prediction of metastatic probability in individual PPGL patients. METHODS:Three hundred and 47 consecutive PPGL...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13357
更新日期:2017-08-01 00:00:00