Reviews in Endocrine and Metabolic Disorders最新文献_第2页

Pulling the trigger: Noncoding RNAs in white adipose tissue browning 扣动扳机白色脂肪组织褐变中的非编码 RNA

Reviews in Endocrine and Metabolic Disorders Pub Date : 2023-12-29 DOI: 10.1007/s11154-023-09866-6

引用次数: 0

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients 诊断和治疗儿童垂体前叶激素缺乏症

Reviews in Endocrine and Metabolic Disorders Pub Date : 2023-12-19 DOI: 10.1007/s11154-023-09868-4

Rodolfo A. Rey, Ignacio Bergadá, María Gabriela Ballerini, Débora Braslavsky, Ana Chiesa, Analía Freire, Romina P. Grinspon, Ana Keselman, Andrea Arcari

{"title":"Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients","authors":"Rodolfo A. Rey, Ignacio Bergadá, María Gabriela Ballerini, Débora Braslavsky, Ana Chiesa, Analía Freire, Romina P. Grinspon, Ana Keselman, Andrea Arcari","doi":"10.1007/s11154-023-09868-4","DOIUrl":"https://doi.org/10.1007/s11154-023-09868-4","url":null,"abstract":"Hypopituitarism, or the failure to secrete hormones produced by the anterior pituitary (adenohypophysis) and/or to release hormones from the posterior pituitary (neurohypophysis), can be congenital or acquired. When more than one pituitary hormone axis is impaired, the condition is known as combined pituitary hormone deficiency (CPHD). The deficiency may be primarily due to a hypothalamic or to a pituitary disorder, or concomitantly both, and has a negative impact on target organ function. This review focuses on the pathophysiology, diagnosis and management of anterior pituitary hormone deficiency in the pediatric age. Congenital hypopituitarism is generally due to genetic disorders and requires early medical attention. Exposure to toxicants or intrauterine infections should also be considered as potential etiologies. The molecular mechanisms underlying the fetal development of the hypothalamus and the pituitary are well characterized, and variants in the genes involved therein may explain the pathophysiology of congenital hypopituitarism: mutations in the genes expressed in the earliest stages are usually associated with syndromic forms whereas variants in genes involved in later stages of pituitary development result in non-syndromic forms with more specific hormone deficiencies. Tumors or lesions of the (peri)sellar region, cranial radiation therapy, traumatic brain injury and, more rarely, other inflammatory or infectious lesions represent the etiologies of acquired hypopituitarism. Hormone replacement is the general strategy, with critical periods of postnatal life requiring specific attention.","PeriodicalId":21105,"journal":{"name":"Reviews in Endocrine and Metabolic Disorders","volume":"198 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138745930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The genetics of Graves’ disease 巴塞杜氏病的遗传学

Reviews in Endocrine and Metabolic Disorders Pub Date : 2023-12-18 DOI: 10.1007/s11154-023-09848-8

Lydia Grixti, Laura C. Lane, Simon H Pearce

{"title":"The genetics of Graves’ disease","authors":"Lydia Grixti, Laura C. Lane, Simon H Pearce","doi":"10.1007/s11154-023-09848-8","DOIUrl":"https://doi.org/10.1007/s11154-023-09848-8","url":null,"abstract":"Graves’ disease (GD) is the commonest cause of hyperthyroidism and has a strong female preponderance. Everyday clinical practice suggests strong aggregation within families and twin studies demonstrate that genetic factors account for 60-80% of risk of developing GD. In this review, we collate numerous genetic studies and outline the discoveries over the years, starting with historic candidate gene studies and then exploring more recent genome-wide linkage and association studies, which have involved substantial cohorts of East Asian patients as well as those of European descent. Variants in genes including HLA, CTLA4, and PTPN22 have been shown to have substantial individual effects on disease susceptibility. In addition, we examine emerging evidence concerning the possibility that genetic variants may correlate with relevant clinical phenotypes including age of onset of GD, severity of thyrotoxicosis, goitre size and relapse of hyperthyroidism following antithyroid drug therapy, as well as thyroid eye disease. This review supports the inheritance of GD as a complex genetic trait, with a growing number of more than 80 susceptibility loci identified so far. Future implementation of more targeted clinical therapies requires larger studies investigating the influence of these genetic variants on the various phenotypes and different outcomes of conventional treatments.","PeriodicalId":21105,"journal":{"name":"Reviews in Endocrine and Metabolic Disorders","volume":"37 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138715867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

New insights on diagnosis and treatment of AVP deficiency 关于 AVP 缺乏症诊断和治疗的新见解

Reviews in Endocrine and Metabolic Disorders Pub Date : 2023-12-13 DOI: 10.1007/s11154-023-09862-w

Julie Refardt, Cihan Atila, Mirjam Christ-Crain

{"title":"New insights on diagnosis and treatment of AVP deficiency","authors":"Julie Refardt, Cihan Atila, Mirjam Christ-Crain","doi":"10.1007/s11154-023-09862-w","DOIUrl":"https://doi.org/10.1007/s11154-023-09862-w","url":null,"abstract":"Arginine vasopressin deficiency (AVP-D) is one of the main entities of the polyuria-polydipsia syndrome. Its correct diagnosis and differentiation from the other two causes - AVP resistance and primary polydipsia – is crucial as this determines the further management of these patients.Over the last years, several new diagnostic tests using copeptin, the stable surrogate marker of AVP, have been introduced. Among them, hypertonic saline stimulated copeptin was confirmed to reliably and safely improve the diagnostic accuracy to diagnose AVP-D. Due to its simplicity, arginine stimulated copeptin was put forward as alternative test procedure. Glucagon-stimulated copeptin also showed promising results, while the oral growth hormone secretagogue Macimorelin failed to provide a sufficient stimulus. Interestingly, an approach using machine learning techniques also showed promising results concerning diagnostic accuracy.Once AVP-D is diagnosed, further workup is needed to evaluate its etiology. This will partly define the further treatment and management. In general, treatment of AVP-D focuses on desmopressin substitution, with oral formulations currently showing the best tolerance and safety profile. However, in addition to desmopressin substitution, recent data also showed that psychopathological factors play an important role in managing AVP-D patients.","PeriodicalId":21105,"journal":{"name":"Reviews in Endocrine and Metabolic Disorders","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138627817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Role of CaMKII in diabetes induced vascular injury and its interaction with anti-diabetes therapy CaMKII 在糖尿病诱导的血管损伤中的作用及其与抗糖尿病疗法的相互作用

Reviews in Endocrine and Metabolic Disorders Pub Date : 2023-12-08 DOI: 10.1007/s11154-023-09855-9

Stephanie Chacar, Abdulhamid Abdi, Khalifa Almansoori, Jawaher Alshamsi, Cynthia Al Hageh, Pierre Zalloua, Ali A. Khraibi, Stephen G. Holt, Moni Nader

{"title":"Role of CaMKII in diabetes induced vascular injury and its interaction with anti-diabetes therapy","authors":"Stephanie Chacar, Abdulhamid Abdi, Khalifa Almansoori, Jawaher Alshamsi, Cynthia Al Hageh, Pierre Zalloua, Ali A. Khraibi, Stephen G. Holt, Moni Nader","doi":"10.1007/s11154-023-09855-9","DOIUrl":"https://doi.org/10.1007/s11154-023-09855-9","url":null,"abstract":"Diabetes mellitus is a metabolic disorder denoted by chronic hyperglycemia that drives maladaptive structural changes and functional damage to the vasculature. Attenuation of this pathological remodeling of blood vessels remains an unmet target owing to paucity of information on the metabolic signatures of this process. Ca2+/calmodulin-dependent kinase II (CaMKII) is expressed in the vasculature and is implicated in the control of blood vessels homeostasis. Recently, CaMKII has attracted a special attention in view of its chronic upregulated activity in diabetic tissues, yet its role in the diabetic vasculature remains under investigation.This review highlights the physiological and pathological actions of CaMKII in the diabetic vasculature, with focus on the control of the dialogue between endothelial (EC) and vascular smooth muscle cells (VSMC). Activation of CaMKII enhances EC and VSMC proliferation and migration, and increases the production of extracellular matrix which leads to maladaptive remodeling of vessels. This is manifested by activation of genes/proteins implicated in the control of the cell cycle, cytoskeleton organization, proliferation, migration, and inflammation. Endothelial dysfunction is paralleled by impaired nitric oxide signaling, which is also influenced by CaMKII signaling (activation/oxidation). The efficiency of CaMKII inhibitors is currently being tested in animal models, with a focus on the genetic pathways involved in the regulation of CaMKII expression (microRNAs and single nucleotide polymorphisms). Interestingly, studies highlight an interaction between the anti-diabetic drugs and CaMKII expression/activity which requires further investigation. Together, the studies reviewed herein may guide pharmacological approaches to improve health-related outcomes in patients with diabetes.","PeriodicalId":21105,"journal":{"name":"Reviews in Endocrine and Metabolic Disorders","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138556854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction: Vitamin D status and supplementation before and after Bariatric Surgery: Recommendations based on a systematic review and meta‑analysis 更正:减肥手术前后维生素D状态和补充:基于系统评价和荟萃分析的建议

Reviews in Endocrine and Metabolic Disorders Pub Date : 2023-09-25 DOI: 10.1007/s11154-023-09837-x

Andrea Giustina, Luigi di Filippo, Antonio Facciorusso, Robert A. Adler, Neil Binkley, Jens Bollerslev, Roger Bouillon, Felipe F. Casanueva, Giulia Martina Cavestro, Marlene Chakhtoura, Caterina Conte, Lorenzo M. Donini, Peter R. Ebeling, Angelo Fassio, Stefano Frara, Claudia Gagnon, Giovanni Latella, Claudio Marcocci, Jeffrey I. Mechanick, Salvatore Minisola, René Rizzoli, Ferruccio Santini, Joseph L. Shaker, Christopher Sempos, Fabio Massimo Ulivieri, Jyrki K. Virtanen, Nicola Napoli, Anne L. Schafer, John P. Bilezikian

引用次数: 0

Ser/Thr phosphatases: One of the key regulators of insulin signaling 丝氨酸/苏氨酸磷酸酶:胰岛素信号传导的关键调控因子之一

Reviews in Endocrine and Metabolic Disorders Pub Date : 2022-06-13 DOI: 10.1007/s11154-022-09727-8

Yamini Yadav, C. Dey

引用次数: 4

Posttranslational modifications in diabetes: Mechanisms and functions 糖尿病的翻译后修饰:机制和功能

Reviews in Endocrine and Metabolic Disorders Pub Date : 2022-06-13 DOI: 10.1007/s11154-022-09740-x

Ang Hu, Haohong Zou, Bin Chen, Jianing Zhong

引用次数: 2

Metabolic actions of the growth hormone-insulin growth factor-1 axis and its interaction with the central nervous system 生长激素-胰岛素生长因子-1轴的代谢作用及其与中枢神经系统的相互作用

Reviews in Endocrine and Metabolic Disorders Pub Date : 2022-06-10 DOI: 10.1007/s11154-022-09732-x

O. Al-Massadi, P. Parini, Johan Fernø, S. Luquet, Mar Quiñones

引用次数: 2

Correction to: The role of transforming growth factor beta in thyroid autoimmunity: current knowledge and future perspectives 更正:转化生长因子β在甲状腺自身免疫中的作用:目前的知识和未来的观点

Reviews in Endocrine and Metabolic Disorders Pub Date : 2022-06-02 DOI: 10.1007/s11154-022-09722-z

Efstratios Kardalas, E. Sakkas, M. Ruchała, D. Macut, G. Mastorakos

引用次数: 0