Abstract:
:Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes that function within the collagen biosynthesis pathway or are involved in osteoblast differentiation and bone mineralization. Clinically, OI is heterogeneous in features and variable in severity. In addition to the skeletal findings, it can affect multiple systems including dental and craniofacial abnormalities, muscle weakness, hearing loss, respiratory and cardiovascular complications. A multi-disciplinary approach to care is recommended to address not only the fractures, reduced mobility, growth and bone pain but also other extra-skeletal manifestations. While bisphosphonates remain the mainstay of treatment in OI, new strategies are being explored, such as sclerostin inhibitory antibodies and TGF beta inhibition, to address not only the low bone mineral density but also the inherent bone fragility. Studies in animal models have expanded the understanding of pathomechanisms of OI and, along with ongoing clinical trials, will allow to develop better therapeutic approaches for these patients.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Marom R,Rabenhorst BM,Morello Rdoi
10.1530/EJE-20-0299subject
Has Abstractpub_date
2020-10-01 00:00:00pages
R95-106issue
4eissn
0804-4643issn
1479-683Xpii
EJE-20-0299journal_volume
183pub_type
杂志文章,评审abstract:OBJECTIVE:To test further the hypothesis that autosomal dominant neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the vasopressin-neurophysin II (AVP-NPII) gene that exert a dominant negative effect by producing a precursor that misfolds, accumulates and eventually destroys the neuros...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460649
更新日期:2002-05-01 00:00:00
abstract::The rat prostate, a classical androgen-target tissue, contains both known isozymes of steroid 5alpha-reductase. i.e. type I and type II. So far, the role of the type I isozyme has been proposed as catabolic. The abundant expression of type I 5alpha-reductase in an androgen-target tissue is therefore puzzling. Assessme...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1340386
更新日期:1996-03-01 00:00:00
abstract::Postmenopausal hyperandrogenism is a state of relative or absolute androgen excess originating from either the adrenals and/or the ovaries, clinically manifested as the appearance and/or increase in terminal hair growth or the development of symptoms/signs of virilization. In either settings, physicians need to evalua...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-14-0468
更新日期:2015-02-01 00:00:00
abstract:CONTEXT:The TIMES2 (testosterone replacement in hypogonadal men with either metabolic syndrome or type 2 diabetes) study reported beneficial effects of testosterone replacement therapy (TRT) on insulin resistance and other variables in men with diabetes or metabolic syndrome. The androgen receptor CAG repeat polymorphi...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-13-0703
更新日期:2013-12-21 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:OBJECTIVES:We aimed to investigate the relationship between nonalcoholic fatty liver disease (NAFLD), serum adiponectin concentration and brachial-ankle pulse wave velocity (baPWV) as a risk marker for atherosclerosis. METHODS:A total of 213 nonalcoholic subjects (67 males, 146 females) participated in this study. Div...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01842
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVE:The antagonism of Agouti protein (AP) and Agouti-related protein on melanocortin receptors suggests an inhibitory role in the regulation of steroidogenesis. However, we have previously demonstrated that ectopic AP overexpression increased restraint-induced corticosterone release and adrenal reactivity to ACTH...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1510613
更新日期:2004-11-01 00:00:00
abstract::We here investigate the potential rescue of the relative hyposomatotropism of aging and obesity by 3-day pulsatile GHRH infusions (i.v. bolus 0.33 microg/kg every 90 min) in 19 healthy men of varying ages (18 to 66 years) and body compositions (12 to 37% total body fat). Baseline (control) and GHRH-driven pulsatile GH...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1530/eje.0.1390059
更新日期:1998-07-01 00:00:00
abstract:AIMS:Reported cure rates following trans-sphenoidal surgery for microprolactinoma are variable and recurrence rates in some series are high. We wished to examine the cure rate of trans-sphenoidal surgery for microprolactinoma, and to assess the long-term complications and recurrence rate. DESIGN:A retrospective review...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1400043
更新日期:1999-01-01 00:00:00
abstract::Differentiated thyroid cancer (DTC) is the most common endocrine cancer and its incidence has increased in recent decades. Initial treatment usually consists of total thyroidectomy followed by ablation of thyroid remnants by iodine-131. As thyroid cells are assumed to be the only source of thyroglobulin (Tg) in the hu...
journal_title:European journal of endocrinology
pub_type: 共识发展会议,杂志文章,评审
doi:10.1530/EJE-14-0148
更新日期:2014-08-01 00:00:00
abstract::The strategy for diagnosis of primary aldosteronism (PA) in the hypertensive population includes firstly a screening step, based on the measurement of plasma aldosterone-to-renin ratio (ARR), a test which must have high sensitivity, and secondly a confirmatory step based on the demonstration of excessive aldosterone p...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-18-0704
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVES:Women with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances, in particular from insulin resistance. Accumulating evidence suggests that vitamin D deficiency may contribute to the development of the metabolic syndrome (MS). Hence, the aim of our study was to investigate the assoc...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0432
更新日期:2009-10-01 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:BACKGROUND:Primary aldosteronism (PA) is the most common form of secondary hypertension, while Gitelman's syndrome (GS) is the most common inherited renal tubular disease. However, coexistence of these two diseases has never been previously reported. AIM AND SUBJECTS: The aim of our study was to describe the associatio...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0271
更新日期:2009-08-01 00:00:00
abstract:OBJECTIVE:An inherited profile of genes related to the response to aggressive environmental factors such as viruses and chemicals may be related to an increased susceptibility to Graves' disease (GD). DESIGN AND METHODS:This prospective case-control study was designed to examine the relationship between human herpesvi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0719
更新日期:2010-02-01 00:00:00
abstract::Rituximab (RTX) use in open-label series has been associated with very encouraging responses in patients with active and moderate-to-severe Graves' orbitopathy (GO). Recently, randomized controlled trials of RTX have been performed in such patients to answer the question of clinical efficacy and the safety profile of ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-16-0552
更新日期:2017-02-01 00:00:00
abstract::In addition to the classical hormones, the production of numerous polypeptide growth factors, cytokines, vasogenic substances and neuropeptides by pituitary cells has been demonstrated. Expression of the corresponding receptors on pituitary cells enables these factors to influence growth and function of the pituitary ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1350515
更新日期:1996-11-01 00:00:00
abstract::This is a brief review of the normal changes in adolescent behaviour and the interplay between biology and social factors that occur at and around puberty, in an attempt to explain when this transition may become problematic The onset of puberty is a biological marker for an individual's transition from a non-reproduc...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.151u151
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVE:Recent trials suggest that using ergot-derived dopamine agonists such as cabergoline in the treatment of Parkinson's disease is associated with an increased risk of valvular heart disease. However, the dose of cabergoline used to treat hyperprolactinaemia is considerably less than that used in Parkinson's dis...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0365
更新日期:2008-10-01 00:00:00
abstract:OBJECTIVE:To identify chromosomal gains and losses in sporadic parathyroid adenomas (PAs). METHODS:Fourteen sporadic PAs were studied by comparative genomic hybridization (CGH). RESULTS:The fourteen studied PAs showed chromosomal imbalances. All cases except one exhibited two or more abnormalities. Chromosomal gains ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460209
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVE:Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered indication for GH treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplication...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-15-0451
更新日期:2015-11-01 00:00:00
abstract::Orthodenticle homolog 2 (OTX2) is a homeobox family transcription factor required for brain and eye formation. Various genetic alterations in OTX2 have been described, mostly in patients with severe ocular malformations. In order to expand the knowledge of the spectrum of OTX2 mutation, we performed OTX2 mutation scre...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-12-0333
更新日期:2012-09-01 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:OBJECTIVES:Investigation of small numbers of parathyroid tumours by X-chromosome inactivation analysis suggests that the majority of them are monoclonal lesions most likely caused by a somatic mutation. Somatic mutations in the MEN1 gene located on chromosome 11q13 have recently been identified in 12-17% of solitary pa...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1430047
更新日期:2000-07-01 00:00:00
abstract:UNLABELLED:Chronic exposure to hypercortisolism has significant impact on patient's health and health-related quality of life (HRQoL), as demonstrated with generic questionnaires. We have developed a disease-generated questionnaire to evaluate HRQoL in patients with Cushing's syndrome (CS; CushingQoL). OBJECTIVE:Valid...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0762
更新日期:2008-05-01 00:00:00
abstract::Glucose is the main substrate utilized by the brain and as such multiple regulatory mechanisms exist to maintain glucose concentrations. When these mechanisms fail or are defective, hypoglycemia ensues. Due to these robust mechanisms, hypoglycemia is uncommon and usually occurs in the setting of the treatment of diabe...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-16-1062
更新日期:2017-07-01 00:00:00
abstract:OBJECTIVE:Depot GnRH agonists are commonly used in the treatment of central precocious puberty (CPP). The triptorelin 11.25 mg 3-month depot, currently used in adult indications, had not previously been evaluated in CPP. DESIGN:This was a multicenter, open-label, 12 month trial conducted in 64 CPP children (54 girls a...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1530/eje.1.02056
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:Inactivating mutations of the GH-releasing hormone receptor (GHRHR) gene (GHRHR) cause familial isolated GH deficiency (IGHD) type IB. The GH response to physical exercise (PE) in patients lacking GHRHR has never been studied. We hypothesized that subjects lacking functional GHRHR may be a model to study GH r...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470591
更新日期:2002-11-01 00:00:00
abstract:CONTEXT AND OBJECTIVE:The precise diagnosis of partially virilised women with 46,XY disorders of sex development (DSD) is often obscure. In practice, this group often comes under the poorly defined, clinically based label of partial androgen insensitivity syndrome (PAIS). In a previous study, we found that 5α-reductase...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-0994
更新日期:2015-06-01 00:00:00
abstract:Objectives:Male hypogonadism is associated with higher risk of co-morbidity and premature mortality. It is, therefore, of utmost importance to identify young men who are at the highest risk of testosterone deficiency and who may benefit from preventive measures. In this context, infertile men constitute a high-risk gro...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0734
更新日期:2020-04-01 00:00:00