Frontiers of Hormone Research最新文献_第4页

Euvolemic Hyponatremia Secondary to the Syndrome of Inappropriate Antidiuresis. 不适当抗利尿综合征继发的低钠血症。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2019-01-15 DOI: 10.1159/000493238

Joseph G Verbalis

引用次数: 19

The Diagnostic Approach to the Patient with Hyponatremia: Are the Correct Investigations Being Done? 低钠血症的诊断方法:是否做了正确的调查?

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2019-01-15 DOI: 10.1159/000493248

Ploutarchos Tzoulis, Isabelle Runkle-De la Vega

{"title":"The Diagnostic Approach to the Patient with Hyponatremia: Are the Correct Investigations Being Done?","authors":"Ploutarchos Tzoulis, Isabelle Runkle-De la Vega","doi":"10.1159/000493248","DOIUrl":"https://doi.org/10.1159/000493248","url":null,"abstract":"Numerous observational studies have confirmed that inadequate investigation of hyponatremia leads to diagnostic errors and incorrect treatment. In fact, only one out of five patients diagnosed as having syndrome of inappropriate antidiuresis (SIAD) have had all the tests necessary to meet the diagnostic criteria. Diagnostic errors could help explain why a majority of patients presenting hyponatremia during hospitalization are discharged while still hyponatremic. The correct differentiation of hypovolemic from euvolemic patients is a clinical diagnostic challenge. Yet the value of the physical examination in the volemic classification of the patient with hyponatremia has been reinforced by ultrasound studies revalidating the utility of the measurement of internal jugular vein pulse height in the clinical evaluation of intravascular volume. In this chapter, we review the data available on current approaches to the diagnosis of hyponatremia, and suggest our recommended approach to the evaluation of patients with hyponatremia, and more specifically, patients with SIAD. In addition, we will explore how specialized input from multidisciplinary hospital \"hyponatremia teams,\" supported by technologies such as automated electronic alert systems, and computerized physician-support systems can aid the diagnostic pathway and clinical care delivery for patients with hyponatremia.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"52 ","pages":"190-199"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000493248","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37675739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

Hypoparathyroidism. Hypoparathyroidism。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2018-11-19 DOI: 10.1159/000491042

Yasser Hakami, Aliya Khan

{"title":"Hypoparathyroidism.","authors":"Yasser Hakami, Aliya Khan","doi":"10.1159/000491042","DOIUrl":"https://doi.org/10.1159/000491042","url":null,"abstract":"The regulation of plasma calcium levels is essential for the normal physiologic function of every cell. Parathyroid hormone (PTH) is the principal regulator of serum calcium and phosphate homeostasis. PTH is synthesized and secreted by the parathyroid chief cells in the parathyroid glands primarily in response to a decline in serum calcium levels. The causes of hypocalcemia can be broadly classified as inadequate PTH or vitamin D production, PTH resistance, or miscellaneous causes. The term \"hypoparathyroidism\" refers to a metabolic disorder in which hypocalcemia and hyperphosphatemia occur either from a failure of the parathyroid glands to secrete sufficient amounts of biologically active PTH, or from an inability of PTH to appropriately induce a biological response in its target tissues. The most common cause of acquired hypoparathyroidism is surgery, accounting for 75% of all cases. Nonsurgical causes of hypoparathyroidism include autoimmune, genetic variants, infiltrative, metastatic, radiation, mineral deposition, magnesium deficiency or excess or idiopathic. The objective of this chapter is to provide a comprehensive review of the physiology of calcium homeostasis, the causes of hypocalcemia, and the epidemiology of hypoparathyroidism. It is very important to determine the underlying cause of the hypoparathyroidism in order to effectively treat our patients and improve quality of life.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"109-126"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36862641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

Parathyroid Carcinoma. 甲状旁腺癌。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2018-11-19 DOI: 10.1159/000491039

Filomena Cetani, Elena Pardi, Claudio Marcocci

{"title":"Parathyroid Carcinoma.","authors":"Filomena Cetani, Elena Pardi, Claudio Marcocci","doi":"10.1159/000491039","DOIUrl":"https://doi.org/10.1159/000491039","url":null,"abstract":"Parathyroid carcinoma (PC) is a rare endocrine malignancy, accounting for <1% of all cases of sporadic primary hyperparathyroidism (PHPT) and up to 15% in the hereditary hyperparathyroidism-jaw tumor syndrome. Genomic alterations identified in PC are mostly represented by CDC73 gene mutations, codifying for a loss-of-function protein termed parafibromin. Whole exome sequencing identified mutations in other genes, such as mTOR, KMT2D, CDKN2C, THRAP3, PIK3CA, and EZH2 genes, CCND1 gene amplification. The diagnosis of PC is quite difficult due to the lack of reliable clinical diagnostic criteria, and in the majority of cases is made postoperatively at histological examination. The clinical manifestations of PC are primarily due to the excessive secretion of PTH by the tumor rather than spread to local or distant organs. En bloc resection of the parathyroid tumor represents the initial mainstay treatment of patients with PC. Multiple surgical procedures may be required, although surgical morbidity should be taken into account. A 5- and 10-year survival between 77-100 and 49-91%, respectively, has been reported. When the tumor is no more resectable, medical treatment of hypercalcemia has a pivotal role in the management of these patients.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"63-76"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491039","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36863660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 32

Inactivating PTH/PTHrP Signaling Disorders. PTH/PTHrP信号失活障碍。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2018-11-19 DOI: 10.1159/000491045

Giovanna Mantovani, Francesca M Elli

{"title":"Inactivating PTH/PTHrP Signaling Disorders.","authors":"Giovanna Mantovani, Francesca M Elli","doi":"10.1159/000491045","DOIUrl":"https://doi.org/10.1159/000491045","url":null,"abstract":"Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels. All these disorders are caused by impairments in the cAMP-mediated signal transduction pathway and, in particular, in the PTH/PTHrP signaling pathway: the main subtypes of PHP and related disorders are caused by de novo or autosomal dominantly inherited inactivating genetic mutations, and/or epigenetic, sporadic, or genetic-based alterations within or upstream of GNAS, PRKAR1A, PDE4D, and PDE3A. Here we will review the impressive progress that has been made over the past 30 years on the pathophysiology of these diseases and will describe the recently proposed novel nomenclature and classification. The new term \"inactivating PTH/PTHrP signaling disorder,\" iPPSD: (1) defines the common mechanism responsible for all diseases, (2) does not require a confirmed genetic defect, (3) avoids ambiguous terms like \"pseudo,\" and (4) eliminates the clinical or molecular overlap between diseases.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"147-159"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491045","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36862644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16

Androgens in Congenital Adrenal Hyperplasia. 先天性肾上腺增生中的雄激素。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 DOI: 10.1159/000494903

D. Pignatelli, S. Pereira, R. Pasquali

{"title":"Androgens in Congenital Adrenal Hyperplasia.","authors":"D. Pignatelli, S. Pereira, R. Pasquali","doi":"10.1159/000494903","DOIUrl":"https://doi.org/10.1159/000494903","url":null,"abstract":"Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health. The majority of CAH cases is due to a deficiency in 21-hydroxylase as a result of the existence of mutations in both alleles of the CYP21A2 gene. Since the identification of mild, non-classic forms of this disease, CAH has been recognized to be one of the most common genetic diseases in human beings. This disease is generally associated with elevated secretion of androgens, sometimes resulting in virilizing syndromes, including genital ambiguity, precocious puberty in both sexes, or milder syndromes of androgen excess like precocious pubarche or the occurrence of hirsutism and oligomenorrhea in women. Accumulating precursors like 17-hydroxypregnenolone and 17-hydroxyprogesterone (17OHP) are directed to the synthesis of androgens through the enzyme 17-hydroxylase/17,20 lyase leading to the production of dehydroepiandrosterone that is then converted to testosterone and dihydrotestosterone (DHT) at the gonads and at other peripheral tissues. 17OHP, the hallmark of 21-hydroxylase deficiency, can be converted to androstenedione (in a low efficiency molecular process) but can also be converted to DHT through an alternative pathway that becomes active due to the large amounts of accumulated 17OHP - the backdoor pathway. Another important pathway that becomes significant in this disease is the 11-oxyandrogens pathway through which androstenedione is converted to 11β-hydroxyandrostenedione at the adrenal and from there to 11-ketotestosterone and 11-ketoDHT. The elevated androgens levels affect the hypothalamic-pituitary-gonadal axis and, in some cases, the ovary resulting in chronic anovulation and infertility.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"53 1","pages":"65-76"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000494903","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65285074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16

Androgens, Body Composition, and Their Metabolism Based on Sex. 基于性别的雄激素、身体成分及其代谢。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 DOI: 10.1159/000494900

V. Giagulli, M. Castellana, C. Pelusi, V. Triggiani

引用次数: 10

Morbidity and Mortality of Hyponatremia. 低钠血症的发病率和死亡率。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2019-01-15 DOI: 10.1159/000493235

Alessandro Peri

引用次数: 25

Future of Hyponatremia Research. 低钠血症研究的未来。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2019-01-15 DOI: 10.1159/000493249

Joseph G Verbalis, Alessandro Peri, Chris J Thompson

引用次数: 2

Nonparathyroid Hypercalcemia. 非甲状旁腺功能亢进症。

2区医学

Frontiers of Hormone Research Pub Date : 2019-01-01 Epub Date: 2018-11-19 DOI: 10.1159/000491040

David Goltzman

{"title":"Nonparathyroid Hypercalcemia.","authors":"David Goltzman","doi":"10.1159/000491040","DOIUrl":"https://doi.org/10.1159/000491040","url":null,"abstract":"Primary hyperparathyroidism is among the most common causes of hypercalcemia. However, ingestion of medication, including hydrochlorathiazide, lithium, and foscarnet, excessive vitamin A ingestion, endocrinopathies such as hyperthyroidism, adrenal insufficiency, and acromegaly, abnormal nutrient intake such as parenteral nutrition in preterm infants and milk-alkali syndrome, and prolonged immobilization have all been associated with hypercalcemia. The most common cause of nonparathyroid hypercalcemia is neoplasia. Hypercalcemia is generally due to the secretion of parathyroid hormone (PTH)-related peptide (PTHrP) by a wide variety of nonmetastatic solid tumors, including squamous cell tumors but also hematologic tumors. PTHrP, although encoded by a distinct gene, shares amino acid sequence homology with PTH in the amino-terminal domain, which allows it to cross-react at a common G protein receptor, the type 1 PTH/PTHrP receptor (PTHR1), resulting in similar skeletal effects and effects on calcium and phosphorus metabolism. Increased PTHrP action with hypercalcemia may be seen in the benign disease Jansen's metaphyseal chondrodysplasia due to a gain-of-function mutation in PTHR1. Another humoral factor, 1,25-dihyroxyvitamin D [1,25(OH)2D] may be produced by lymphomas, but also by benign granulomatous disorders and may also cause hypercalcemia when its metabolism is genetically impaired. Vitamin D intoxication may cause hypercalcemia due to overproduction of the metabolite, 25 hydroxyvitamin D, apparently in the absence of conversion to 1,25(OH)2D. Malignancies metastatic to bone or arising in bone (such as multiple myeloma) may produce a variety of growth factors and cytokines, in addition to PTHrP, which can contribute to tumor growth as well as osteolysis and hypercalcemia.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"77-90"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491040","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36863663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 15