Abstract:
:Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Cicognani A,Pirazzoli P,Nicoletti A,Baronio F,Conti V,Bonetti Ssubject
Has Abstractpub_date
2010-06-01 00:00:00pages
15-8issue
6 Suppleissn
0391-4097issn
1720-8386journal_volume
33pub_type
杂志文章abstract:BACKGROUND:Serum DHEAS has been found to be elevated in some women with polycystic ovary syndrome (PCOS). We wished to determine whether this prevalence is different in women with androgen excess who have different phenotypes and to correlate these findings with various cardiovascular and metabolic parameters. METHODS...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347408
更新日期:2007-02-01 00:00:00
abstract::The intravenous injection of calcium gluconate (0.11 mM/kg body weight) into conscious thyroidectomized pigs elicits a 30% rise in both ionized and total calcium concentrations of plasma, which return to basal levels within 180 min. The administration of calcitonin (2.5-10 MRC U/kg body weight) reduces this time to 30...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350579
更新日期:1983-04-01 00:00:00
abstract::The 1865 volume of the "II Morgagni", one of the most important Italian medical journals of the 19th century, presented two important articles, milestones for further scientific studies in the field of sexual differentiation. One was the original description of the "ramified cells" of testicular tubules by E. Sertoli,...
journal_title:Journal of endocrinological investigation
pub_type: 历史文章,杂志文章
doi:10.1007/BF03345329
更新日期:2005-11-01 00:00:00
abstract::Evaluation of thyroid status by measurement of free thyroid hormone concentrations seems particularly helpful in conditions with altered serum binding proteins. In pregnancy, a condition of increased thyroxine binding globulin, serum free thyroxine (FT4) and free triiodothyronine (FT3) concentrations have been reporte...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350244
更新日期:1991-01-01 00:00:00
abstract::The aim of this paper is to briefly review some practical aspects of the relationship between thyroid function and several disorders of the hemostatic system in terms of bleeding and thrombosis. Thrombocytopenia, acquired hemophilia, hypercoagulability, cardioembolism and other biochemical coagulative and fibrinolytic...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03345311
更新日期:2004-12-01 00:00:00
abstract::The in vivo suppressive effect of glucose and insulin on plasma free fatty acid concentrations was investigated in obese subjects with (n = 6) and without (n = 6) Type 2 (non-insulin-dependent) diabetes mellitus during a 4h-hyperglycemic glucose clamp (about 11.2 mmol/l). Somatostatin was infused (250 micrograms/h) du...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348582
更新日期:1990-01-01 00:00:00
abstract::To evaluate the effect of weight loss and diet therapy on plasma sex hormone behavior in male obesity, 9 men with a BMI of 43.4 +/- 6.3 participated in an 8-week semistarvation program [whose energy content ranged from 320 to 500 k calorie/day (proteins 44 to 60 g and carbohydrates 54 to 81 g per day)] followed by a t...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350136
更新日期:1988-03-01 00:00:00
abstract::Glucocorticoid receptors (GR) and 3-O-methyl-D glucose (3-O-MG) transport were determined in mononuclear leukocytes (MNL) from 11 abdominal obese subjects, 10 pituitary-dependent Cushing's syndrome (Cushing's disease) and 10 healthy controls. Using a whole-cell competitive binding assay and 3H-dexamethasone as tracer,...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350794
更新日期:1998-11-01 00:00:00
abstract:PURPOSE:Hashimoto's thyroiditis (HT) is often associated with rheumatic disorders (arthritis, etc.), but many HT patients report non-specific rheumatic signs and symptoms in the absence of clinically evident rheumatic diseases. Aim of this study was to evaluate the prevalence of non-specific rheumatic manifestations (R...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01083-w
更新日期:2020-01-01 00:00:00
abstract::We studied 8 insulin dependent stable young diabetics with a mean age of 20 yr. Each patient received 10 mg of diazepam orally after with drawing the baseline blood sample. Subsequent samples were obtained at 30 min intervals for 150 min. The oral administration of diazepam resulted in a significant increase in serum ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349471
更新日期:1982-05-01 00:00:00
abstract:PURPOSE:Visceral adipose tissue-derived serine protease inhibitor (vaspin) is an adipocytokine with insulin-sensitizing effects. Accumulating data implied that vaspin represents a compensatory mechanism but it is unknown how vaspin change during ageing. This study was designed to examine the correlation between plasma ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-016-0533-6
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:Bone marrow mesenchymal stem cells (MSC) mediate their protection by paracrine mechanism under ischemic conditions and anoxic pre-conditioning (AP) of MSC strongly enhances their survival and regenerative capacity. However, there is no report about the therapeutic potency of MSC transplantation on diabetic c...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345575
更新日期:2008-02-01 00:00:00
abstract::Six-day treatment of neonatal rats with T3 or T4 resulted in a considerable depression of T4 production in response to exogenous TSH in adulthood. This supports the hypothetical conclusion that hormonal imprinting, i.e. the presence of the hormone and its interaction with the cell during the period of receptor maturat...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348561
更新日期:1985-12-01 00:00:00
abstract::The occurrence of tumors originating from aberrant adrenocortical tissue in ectopic site is very rare. Up to now only two cases of ectopic aldosterone-producing adenoma have been described. We have observed another case of ectopic aldosteronoma, located in the retrocaval region, laterally to the body of the 12th thora...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349816
更新日期:1995-11-01 00:00:00
abstract:PURPOSE:Growth hormone deficiency (GHD) is the most common endocrine late effect observed in childhood cancer survivors (CCS) previously submitted to cranial irradiation. Radiation therapy can also increase the risk of second neoplasms (SNs). Since in previous studies GH replacement therapy was associated with increase...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-014-0179-1
更新日期:2015-02-01 00:00:00
abstract:PURPOSE:Arginine vasopressin (AVP) may be involved in metabolic syndrome (MetS) by altering liver glycogenolysis, insulin and glucagon secretion, and pituitary ACTH release. Moreover, AVP stimulates the expression of 11β-hydroxysteroid-dehydrogenase-type 2 (11β-HSD2) in mineralocorticosteroid cells. We explored whether...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-017-0807-7
更新日期:2018-07-01 00:00:00
abstract:BACKGROUND:Adipose tissue has been suggested to influence bone density and metabolism through the effect of some adipokines. However, whether adiponectin and visfatin may correlate with bone metabolism is still unclear. AIM:The aim of this study was to investigate the relationship of adiponectin and visfatin with bone...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346703
更新日期:2011-01-01 00:00:00
abstract::Erythrocytes glutathione (GSH) levels were measured in erythrocytes from 33 subjects, at baseline and after 2-hour glucose loading in order to investigate the effect of glucose ingestion on the erythrocyte GSH. According to the World Health Organisation criteria 18 subjects had normal glucose tolerance (NGT)(mean age ...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03348003
更新日期:1997-09-01 00:00:00
abstract::There is increasing evidence that androgen therapy in men may be effectively applied in several conditions to improve well being and health. Classical indications for androgen therapy in males are represented by primary or secondary hypogonadism, delayed puberty, aplastic anemia and that secondary to chronic renal fai...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03343707
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND:Activation of the farnesoid X receptor (FXR), a member of the nuclear receptor steroid superfamily, leads to anti-inflammatory and anti-fibrotic effects in several tissues, including the lung. We have recently demonstrated a protective effect of the farnesoid X receptor (FXR) agonist obeticholic acid (OCA) i...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-1009-2
更新日期:2019-08-01 00:00:00
abstract::Endemic goiter in Morocco is localized in the Rif and Atlas mountains. In this study, performed in the Skoura-Toundoute areas (high Atlas), we demonstrate that iodine deficiency is the main factor involved in the development of endemic goiter. However it may not constitute the only etiological factor. The median urina...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345821
更新日期:1993-01-01 00:00:00
abstract::Circulating TSH bioactivity may vary in several clinical and experimental conditions. Since the reliability of the current methods for the measurement of TSH bioactivity is limited, a new bioassay based on cAMP accumulation in Chinese Hamster Ovary cells transfected with recombinant human TSH receptor (CHO-R) was set ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348894
更新日期:1993-07-01 00:00:00
abstract::The effects of estriol on serum prolactin (PRL) and LH levels, on the pituitary response to TRH and LHRH and on the synthesis and release of PRL from the anterior pituitary gland were investigated in female rats. The increase of serum PRL levels after estradiol administration was found to be associated with an increas...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349902
更新日期:1989-01-01 00:00:00
abstract::Because women affected by polycystic ovary syndrome (PCOS) present an increased cardiovascular risk, the safety of estroprogestin treatment is debated and contrasting data have been reported. However, cardiovascular risk is not the same in all PCOS women and individual cardiovascular risk should be assessed before sta...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.3275/8882
更新日期:2013-05-01 00:00:00
abstract:CONTEXT:The latest guidelines of the 4th International Workshop on Asymptomatic Primary Hyperparathyroidism (aPHPT) reintroduced hypercalciuria (i.e. urinary calcium > 400 mg/day) as criterion for surgery. However, the value of hypercalciuria as a predictor of nephrolithiasis and the correct cut-off values still need t...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01162-y
更新日期:2020-05-01 00:00:00
abstract::Although adjustments to nutritional lifestyle and increased physical activity remain the milestones of weight loss therapy, it is evident from the exponential increase of the number of obese subjects in Western countries that these two approaches alone are no longer able to limit this progression. This alarming phenom...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2006-01-01 00:00:00
abstract:PURPOSE:To determine the incidence and determinants of developing abnormalities on the 12-lead electrocardiogram (ECG) in persons with type 1 diabetes. METHODS:We evaluated the distribution of ECG abnormalities and risk factors for developing new abnormalities in 266 (mean age = 44 years ± 9.0; 50 % female) people wit...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-016-0564-z
更新日期:2017-03-01 00:00:00
abstract::Thyroid-stimulating antibody (TSAb) activity and the TSH-binding inhibitory immunoglobulin (TBII) index were assessed in 158 patients with Graves' disease who had been treated with 131I 6-14 years earlier. Twenty-one patients (13%) were still hyperthyroid, 45 (28%) were euthyroid, 44 (28%) were subclinically hypothyro...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349039
更新日期:1996-11-01 00:00:00
abstract::A 34-yr-old nulliparous black woman presented with hair loss, facial hirsutism, irregular menses and infertility associated with greatly increased serum total testosterone levels. The adrenal glands and the ovaries were normal on radiological and ultrasonographic investigation. Catheterization of the veins draining fr...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348033
更新日期:1997-12-01 00:00:00
abstract::The authors report the results of a correlation study between the direct Immunobead Test (d-IBT) and other techniques for antisperm antibodies detection. The Gelatin Agglutination Test (GAT) and Tray Agglutination Test (TAT) were used to detect antibodies in blood serum and seminal plasma ("indirect methods"). The Dir...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346835
更新日期:1991-06-01 00:00:00