Abstract:
:Silver-Russell syndrome (SRS) is both clinically and genetically a heterogeneous congenital disorder. Patients are characterised by severe intrauterine and post-natal growth retardation, dysmorphic facial features and, asymmetry. Various chromosome abnormalities have been associated with the disease, involving most often chromosome 7 and 17. In about 7% of sporadic cases, maternal uniparental disomy of chromosome 7 has been detected. Most recent findings suggest that imprinting defects within the 11p15 region also play a role in SRS.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Rossignol Ssubject
Has Abstractpub_date
2006-01-01 00:00:00pages
9-10issue
1 Suppleissn
0391-4097issn
1720-8386journal_volume
29pub_type
杂志文章,评审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:BACKGROUND:In contrast with maximal voluntary resistance exercise, which is allegedly considered a potent GH stimulus in young subjects, evaluation of GH response to whole-body vibrations (WBV) has yielded conflicting results. METHODS:The acute effects of WBV alone (test A), maximal voluntary isometric contractions (M...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347069
更新日期:2011-03-01 00:00:00
abstract::Several cases of ovarian neoplasms resulting in Cushing's syndrome due to ectopic secretion of ACTH or ectopic secretion of F have been reported. Tumors producing ACTH include adenocarcinoma, androblastoma, Sertoli cell carcinoma, carcinoid tumor and teratoma. Cortisol secretion has been reported in ovarian steroid ce...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03344020
更新日期:2002-04-01 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::A comparison of peripheral patterns of androstenedione (A), 17 beta-estradiol (E2) and progesterone (P) is reported in ten infertile women during HMG-HCG induction of ovulation, in order to assess the site of ovarian secretion of plasma A and the possible influence on conception. Evidence for both the follicular and l...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03351016
更新日期:1984-08-01 00:00:00
abstract::We have measured eye muscle antibodies, in immunoblotting, in the serum from five patients with severe ophthalmopathy associated with Graves' hyperthyroidism who underwent plasmapheresis, correlating their levels with clinical features of the eye disorder and response to treatment. Blood taken before each plasma excha...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348906
更新日期:1993-10-01 00:00:00
abstract::This study was performed to determine whether phenotypically healthy sisters of women with polycystic ovary syndrome (PCOS) have evidence of insulin resistance. We studied 54 women: 17 with PCOS, 17 sisters of these probands and 20 control women with similar age, body mass index (BMI) and waist-to-hip ratio (WHR). The...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347535
更新日期:2004-11-01 00:00:00
abstract::Monolayer cultures of medullary thyroid carcinoma (MTC) cells were prepared from 5 patients with familial and 4 with sporadic MTC. Basal calcitonin (CT) release decreased rapidly during 17 days in culture. Addition of extra calcium (2 mmol/l) or dibutyryl cyclic AMP (dBcAMP, 3 mmol/l) increased CT release in all inves...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347169
更新日期:1987-04-01 00:00:00
abstract::Impaired glucose tolerance is present in many acromegalic patients and treatment with somatostatin analogs has variable effects on glycemic control. The aim of this study was to compare the effects of 2 somatostatin analogs on glucose metabolism, lanreotide slow release (L-SR) and octreotide long acting release (O-LAR...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03345491
更新日期:2002-06-01 00:00:00
abstract::Recent evidence suggests that patients with traumatic brain injury (TBI) are at substantial risk of hypopituitarism. The pathomechanisms, however, are not completely understood yet. Little is known about the association of morphological changes in the sella region with pituitary function in TBI. In this study, we asse...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346291
更新日期:2007-04-01 00:00:00
abstract::Between 1973 and 1980, 93 patients with Graves' disease underwent subtotal thyroidectomy by the same surgeon (the size of thyroid remnant was 4 g per side). No case of operative mortality, no case of thyroid storm nor of surgical complications occurred. Three months after surgery 40% of patients were euthyroid, 25% ha...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349057
更新日期:1988-05-01 00:00:00
abstract::Prolactin (PRL) circulates as multiple molecular weight variants: glycosylated phosphorylated, deamidated and sulphated forms. The profiles of the forms, as determined by isoelectrofocusing (IEF), differ in physiological and pathological conditions. The case of a 72-year-old woman affected by an invasive prolactinoma ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350303
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND:Proliferative activity prediction is important for determining individual treatment strategies for patients with acromegaly, and tumor proliferative activity is usually measured by the expression of Ki-67. OBJECTIVE:This study aimed to assess the value of a magnetic resonance imaging (MRI)-based radiomics a...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01159-7
更新日期:2020-06-01 00:00:00
abstract:OBJECTIVE:Neuroendocrine dysfunction in polycystic ovary syndrome (PCOS) was addressed by studying the steroid hormone changes in women with PCOS with either high or normal LH levels leading to inferences regarding the primacy of elevated LH in the pathophysiology of PCOS. METHODS:A cross-sectional study was designed ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345319
更新日期:2005-11-01 00:00:00
abstract::Eleven patients with Paget's disease of bone, treated intermittently for 2-4 years with porcine calcitonin (pCT) and clinically resistant to pCT [no modifications of serum alkaline phosphatase (ALP) and urinary hydroxyproline ( uHOP ) during pCT administration] were treated with 0.5-0.25 mg/day of human calcitonin (hC...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348394
更新日期:1984-04-01 00:00:00
abstract:PURPOSE:Aims of this study were to evaluate the agreement between the short and long versions of the International Physical Activity Questionnaire (IPAQ: Italian versions), their reproducibility (agreement and reliability) and construct validity (relative to pedometry) in a clinical population. METHODS:Ninety patients...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-017-0746-3
更新日期:2018-03-01 00:00:00
abstract::We evaluated the usefulness of premarin priming on exercise induced growth hormone release and the value of combining several growth hormone screening agents in a large population of prepubertal children. Two hundred five short healthy prepubertal children growing below the 5th percentile in height were studied. One h...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346963
更新日期:1986-12-01 00:00:00
abstract:BACKGROUND:Vitamin D exerts pleiotropic effects and few studies are available in the Italian population. AIM:Aim of our study was to evaluate vitamin D status in children living in Northern Italy. METHODS:We studied vitamin D levels in a population of 113 normal weight (NW) and 444 obese (OB) children, prepubertal an...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-014-0108-3
更新日期:2014-09-01 00:00:00
abstract:PURPOSE:The diagnosis of polycystic ovary syndrome (PCOS) is based on a combination of various clinical phenotypes in each patient. However, insulin resistance (IR) and dysmetabolism are not included in the diagnostic criteria of PCOS. Therefore, the definition of PCOS is controversial. The objective of this study is t...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-018-0902-4
更新日期:2018-12-01 00:00:00
abstract::Patients with active Cushing's syndrome have an increased thrombotic tendency. We chose to reassess the mechanism underlying the thrombophilic state associated with this clinical condition using sensitive markers of coagulation and fibrinolysis activation in 17 patients with active disease. The results were compared w...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03343697
更新日期:2000-03-01 00:00:00
abstract::A 41-year-old male with primary hypothyroidism and a huge TSH-secreting pituitary tumor presented with a bleeding nasal mass that was initially misdiagnosed as a paraganglioma. Other unique features of the case include lack of complaints related to hypothyroidism, an extremely elevated TSH level of 3474 mU/l, and a lo...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343584
更新日期:1999-06-01 00:00:00
abstract::To analyze the inhibitory effect of hormone replacement therapy (HRT) on bone resorption, we measured urinary excretion of C-telopeptide (CTX) and N-telopeptide (NTX) of type I collagen as new markers of bone resorption and assessed their correlation with bone mineral density, in comparison with urinary pyridinoline (...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347294
更新日期:1998-03-01 00:00:00
abstract::The occurrence of a genetic background in the etiology of polycystic ovarian syndrome (PCOS) represents the rational basis to postulate the existence of a male PCOS equivalent. Hormonal and metabolic abnormalities have been described in male relatives of women with PCOS. These males also have a higher prevalence of ea...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/s40618-017-0728-5
更新日期:2018-01-01 00:00:00
abstract::Scavenger receptor A (SR-A) is the main receptor through which oxidized LDL (oxLDL) and advanced glycation end products get into the cells. The aim of the present study was to investigate the effect of an ACE inhibitor, perindopril, on the expression of SR-A in renal tubulointerstitium of diabetic rats. Diabetes was i...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/7867
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:Neonatal hypothyroidism has serious effects on growth, development, and metabolism. AIM:This study aims to investigate the effects of the neonatal hypothyroidism on carbohydrate metabolism, islet insulin secretion and morphology of the pancreatic islets in adult male offspring. MATERIALS/SUBJECTS AND METHO...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/8468
更新日期:2013-01-01 00:00:00
abstract:PURPOSE:Initial surgery for medullary thyroid cancer (MTC) with no evidence of lymph node involvement in neck compartments consists of total thyroidectomy and prophylactic central neck dissection. This study evaluated the reliability of a radiotracer technique for the intraoperative detection of sentinel lymph nodes (S...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-014-0112-7
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:The relative contribution of fasting and post-prandial glucose to glycated hemoglobin (HbA1c) is controversial. In the present study, we assessed the relationship with HbA1c of fasting and post-prandial glucose measured in a more naturalistic setting, through home glucose self-monitoring or with a continuous ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03344161
更新日期:2006-07-01 00:00:00
abstract::The type of dietary fat affects the action of insulin by changes induced in the fatty acid composition of cell membranes. Little is known, however, about the effects of dietary fatty acids on insulin secretion or the possible relation between the fatty acid composition of the membrane phospholipids and insulin secreti...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03344034
更新日期:2002-05-01 00:00:00
abstract::Sleep-related breathing disorders are recognized as major health problems in obesity. They are involved in both hypertension and Type 2 diabetes, through mechanisms possibly related to increased sympathetic tone. We studied the association of habitual snoring with diabetes, hypertension, weight cycling and physical ac...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346260
更新日期:2004-02-01 00:00:00
abstract::Gonadotropins control male and female gonadal function by acting through specific receptors. The recent description of several mutations in LH and FSH receptors has significantly improved our understanding of the pathophysiology of several sexual disorder. Both gain- and loss-of-function germline mutations leading to ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03343777
更新日期:2000-10-01 00:00:00