Abstract:
PURPOSE:Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. We report the case of a 40 year-old woman who presented many times to the emergency department complaining of unexplained abdominal pain and laboratory investigations showed repeatedly hyponatremia. Syndrome of inappropriate antidiuresis (SIAD) was confirmed and measurement of urine porphobilinogen and delta-aminolevulinic acid disclosed the diagnosis of acute porphyria. The genetic analysis of PPOX gene was performed. METHODS:The entire coding sequence and exon/intron boundaries of PPOX gene were amplified in 5 different Polymerase Chain Reaction (PCR) fragments. In silico prediction of the pathogenicity of the mutation was determined by using different tools, Polyphen2, SNPs&GO, SNPs3D. RESULTS:The genetic analysis of PPOX gene revealed a novel missense variant c.1376 G > A (p.Cys459Tyr) in heterozygous state. The same variant was later found in one of her cousins with skin lesions and other three younger asymptomatic relatives. We provided evidence that this novel mutation is likely to be pathogenetic. CONCLUSIONS:Our case highlights the importance of considering VP in the differential diagnosis of SIAD and underlines the role of genetic screening in the management of such patients. The finding of a novel mutation of PPOX gene in our index case has allowed to recognize an affected family.
journal_name
Endocrinejournal_title
Endocrineauthors
Tabaro I,Reimondo G,Osella G,Aurizi C,Caraci P,Barbieri L,Giachino DF,Sirchia F,Terzolo Mdoi
10.1007/s12020-018-1569-5subject
Has Abstractpub_date
2018-09-01 00:00:00pages
403-406issue
3eissn
1355-008Xissn
1559-0100pii
10.1007/s12020-018-1569-5journal_volume
61pub_type
杂志文章相关文献
ENDOCRINE文献大全abstract::Variants of growth hormone (GH) are present in most vertebrates. Chicken GH (cGH) undergoes posttranslational modifications that contribute to its structural diversity. Although the 22-kDa form of GH is the most abundant, some other variants have discrete bioactivities that may not be shared by others. The proportion ...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1385/ENDO:17:2:91
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:Glucose and lipid disturbances, as well as higher tendency to atherosclerosis, are observed in women with polycystic ovary syndrome (PCOS). Thyroid hormones action has long been recognized as an important determinant of glucose and lipid homeostasis. Some studies suggest that even in euthyroid subjects, thyro...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-019-01913-0
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:This study aimed to investigate premature mortality and the risk of cardiovascular disease (CVD) in Chinese adults with diabetes diagnosed before the age of 45 years. METHODS:A total of 519 participants with normal glucose tolerance (NGT) and 630 with newly diagnosed diabetes mellitus (DM) were recruited in ...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-019-01928-7
更新日期:2019-07-01 00:00:00
abstract::Despite the availability of many new treatment options for type 2 diabetes, the proportion of patients achieving the HbA1c target < 7.0% remains around 50%. We put forward the hypothesis that the unchanged HbA1c results, observed in the last decade in type 2 diabetes patients, are also a consequence of medication nona...
journal_title:Endocrine
pub_type: 杂志文章,评审
doi:10.1007/s12020-017-1517-9
更新日期:2018-07-01 00:00:00
abstract::To further understand the role of ovarian hormones in the function of the serotonin neural system, we investigated the effects of estradiol (E), progesterone (P), and raloxifene on 5HT 1A and 2C receptor protein expression in the dorsal raphe region using Western blot analysis. Adult rhesus macaques (Macaca mulatta) w...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-008-9087-5
更新日期:2008-06-01 00:00:00
abstract::Ischemia-modified albumin (IMA) is a novel marker of tissue ischemia. Nowadays, IMA is accepted as a marker of oxidative stress. In this study, we aimed at establishing an association between IMA and hyperglycemia, blood pressure, lipid parameters, microvascular complications, hsCRP, and microalbuminuria in type 2 dia...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-009-9236-5
更新日期:2009-12-01 00:00:00
abstract::This article provides an overview of the increasing number of observations indicating that excitatory amino acids are involved in the control of prolactin secretion. The information available suggests that these amino acids exert a stimulatory action on hypophysial prolactin. Administration of a glutamate receptor ago...
journal_title:Endocrine
pub_type: 杂志文章,评审
doi:10.1385/ENDO:28:3:303
更新日期:2005-12-01 00:00:00
abstract:PURPOSE:To compare long-term outcomes in patients with adrenal incidentalomas (AIs) with the response to a 1 mg overnight dexamethasone suppression test (DST). METHODS:Consecutive patients with "non-functional" AIs (n = 365) were examined. Patients with overt hormone excess, adrenocortical cancer and known malignancy ...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-017-1400-8
更新日期:2017-11-01 00:00:00
abstract::It is well established that hypothalamic dopamine (DA) is the major physiologic regulator of prolactin (PRL) secretion, exerting a tonic inhibition throughout most of the estrous cycle. A dramatic drop in the amount of DA perfusing the anterior pituitary occurs in the afternoon of proestrus and is critical for the pro...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1385/ENDO:20:1-2:67
更新日期:2003-02-01 00:00:00
abstract:PURPOSE:In previous studies, associations between breast-milk cortisol levels obtained on one occasion and infant neurodevelopment were demonstrated. However, more recent evidence indicates that breast-milk cortisol and cortisone concentrations follow the diurnal rhythm of maternal hypothalamus-pituitary-adrenal axis, ...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-020-02273-w
更新日期:2020-06-01 00:00:00
abstract::Quality of life (QoL) is an important aspect that reflects the way people feel and function. The assessment of QoL quality of life is an essential tool for estimating the efficacy of any therapy in different pathophysiological conditions. In normal, healthy women, the perception of QoL can be significantly modified du...
journal_title:Endocrine
pub_type: 杂志文章,评审
doi:10.1385/ENDO:24:3:231
更新日期:2004-08-01 00:00:00
abstract::Many aspects of tuberoinfundibular dopaminergic neuronal function are increased by elevated prolactin (PRL) levels, including the activity of tyrosine hydroxylase, the rate-limiting enzyme in the biosynthesis of dopamine. This study evaluated the roles of calmodulin, cyclic nucleotide-dependent protein kinase, and cal...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1385/ENDO:16:2:105
更新日期:2001-11-01 00:00:00
abstract::Thioredoxin-interacting protein (TXNIP) is a known important regulatory protein of islet β-cell biology and function, but the detailed mechanism is not clear. Autophagy plays a pivotal role in maintaining cellular homoeostasis. This study aimed to elucidate the influence of TXNIP on the autophagy of β-cell. In this st...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-020-02471-6
更新日期:2020-12-01 00:00:00
abstract::Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. It is characterized by a progressive loss of dopamine in the substantia nigra and striatum. However, over 70% of dopaminergic neuronal death occurs before the first symptoms appear, which makes either early diagnos...
journal_title:Endocrine
pub_type: 杂志文章,评审
doi:10.1385/ENDO:27:2:169
更新日期:2005-07-01 00:00:00
abstract::Diabetes with hypertension is characterized by increased cerebrovascular pathology and poorer outcomes following stroke. In this study we evaluated the effect of global brain ischemia on brain metabolic parameters in normal and diabetic rats treated with a dihydropyridine calcium antagonist, felodipine. Normal and dia...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1385/ENDO:25:2:091
更新日期:2004-11-01 00:00:00
abstract::Concentrations of immunoreactive (ir-) inhibin in circulation, amniotic fluid, and testes of embryos and newly hatched ducks were determined from d 21 of incubation to d 1 of age. Plasma concentrations of FSH and LH were also determined by chicken radioimmunoassay (RIA) systems. In addition, gene expression and cellul...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1385/ENDO:28:2:171
更新日期:2005-11-01 00:00:00
abstract::Erectile dysfunction (ED) is commonly associated with risk factors for cardiovascular disease, including diabetes. The prevalence of ED in diabetic patients is high--about 75% of diabetic men 60 yr of age or older had ED in one study. Endothelial dysfunction, accelerated atherosclerosis, and diabetic neuropathy likely...
journal_title:Endocrine
pub_type: 杂志文章,评审
doi:10.1385/ENDO:23:2-3:125
更新日期:2004-03-01 00:00:00
abstract::The Metastatic progression of solid tumors, such as thyroid cancer is a complex process which involves various factors. Current understanding on the role of epithelial-mesenchymal transition (EMT) in thyroid carcinomas suggests that EMT is implicated in the progression from follicular thyroid cancer (FTC) and papillar...
journal_title:Endocrine
pub_type: 杂志文章,评审
doi:10.1007/s12020-019-02030-8
更新日期:2019-12-01 00:00:00
abstract::Initiation and maintenance of labor in humans is associated with an increase in prostaglandin synthesis by intrauterine tissues. The objective of the present study was to characterize the distribution of membrane-bound PGES (mPGES) protein and mPGES mRNA in human placenta, fetal membranes, and decidua at term and to d...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1385/ENDO:20:3:219
更新日期:2003-04-01 00:00:00
abstract:PURPOSE:To evaluate the reliability of intermittent intraoperative neuromonitoring (I-IONM) through recurrent laryngeal nerve (RLN) stimulation and laryngeal palpation in predicting postoperative vocal cord palsy and to examine the reliability of this technique in providing useful information in the decision to perform...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-018-1739-5
更新日期:2018-12-01 00:00:00
abstract::Adrenal transplantation may restore adrenal function after bilateral adrenalectomy or when adrenal function is lost. Thus, animal experiments could provide useful information before clinical application of adrenal transplantation. Using an experimental model of autotransplantion of a complete adrenal gland in the sple...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1385/endo:16:3:173
更新日期:2001-12-01 00:00:00
abstract::Many new techniques are rapidly being developed and applied to the study of normal and neoplastic pituitary. DNA microarrays are a uniquely efficient method for simultaneously assessing the expression levels of thousands of genes, identifying disease subphenotypes, and predicting disease progression. This article revi...
journal_title:Endocrine
pub_type: 杂志文章,评审
doi:10.1385/ENDO:28:1:049
更新日期:2005-10-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Dopamine agonist (DA)-resistant prolactinomas are rare but they constitute a real challenge, since there are few therapeutic alternatives left for these patients. DESIGN AND SETTING:Proof-of-concept study at a tertiary care, referral center. PATIENTS AND METHODS:The studied population consis...
journal_title:Endocrine
pub_type: 临床试验,杂志文章
doi:10.1007/s12020-018-1638-9
更新日期:2018-08-01 00:00:00
abstract::The oncogenic activation of the rearranged during transfection (RET) proto-oncogene has a main role in the pathogenesis of medullary thyroid cancer (MTC). Several lines of evidence suggest that RET function could be influenced by cyclic AMP (cAMP)-dependent protein kinase A (PKA) activity. We evaluated the in vitro an...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-015-0597-7
更新日期:2016-01-01 00:00:00
abstract::This study was performed to ascertain whether a relationship exists between thyroid function and blood pressure in school-aged Chinese subjects without overt thyroid disease. A cross-sectional survey of 880 subjects (541 females and 339 males) aged 7-18 years in Bengbu, Anhui province was conducted. The investigation,...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-011-9517-7
更新日期:2012-02-01 00:00:00
abstract::The main objective of this article is to study the psychosocial profile of patients of Cushing disease (CD) in a developing country setting. Eighteen patients with CD underwent a cross-sectional assessment regarding their socio-demographic and clinical profile, life events, social support, coping, dysfunction, quality...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-009-9182-2
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVE:In order to study the association of G241R polymorphism of ICAM-1 gene with an earlier onset of Graves' disease (GD) and the susceptibility of K469E polymorphism to Graves' ophthalmopathy (GO) in Chinese population. STUDY DESIGN:A case-control and replication study was performed in 212 GD patients and 204 he...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-007-0032-9
更新日期:2007-04-01 00:00:00
abstract::Oxytocin (OT) and arginine-vasopressin (AVP) are two major neurohypophysary nonapeptides that have impor-tant roles during pregnancy and labor. Using the expiant model at term, we have examined the effect of physiologic concentrations of both nonapeptides on placental hormone secretion. We found that OT had a dose-dep...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/BF03021401
更新日期:1995-04-01 00:00:00
abstract::Recent studies have reported that standardized uptake values of FDG-PET imaging might predict malignant thyroid nodules and can be used in the preoperative evaluation of thyroid lesions. The aim of our study was to evaluate FDG-PET imaging in patients with cold thyroid nodules and to compare the imaging findings with ...
journal_title:Endocrine
pub_type: 杂志文章
doi:10.1007/s12020-015-0580-3
更新日期:2015-09-01 00:00:00
abstract::Chronic stress can have a deleterious effect on the re-productive axis that, for females, is manifested in an increased incidence of infertility. However, gonadal steroids may, in turn, affect a female's response to stress as measured by activity within the limbic-hypothalamic-pituitary-adrenal (LHPA) axis. What is no...
journal_title:Endocrine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1385/ENDO:26:2:089
更新日期:2005-03-01 00:00:00