Stéphanie Larose, Stéfanie Parisien-La Salle, Isabelle Bourdeau, André Lacroix
{"title":"Genetics of cortisol-secreting bilateral macro- and micronodular adrenal hyperplasias","authors":"Stéphanie Larose, Stéfanie Parisien-La Salle, Isabelle Bourdeau, André Lacroix","doi":"10.1016/j.coemr.2024.100541","DOIUrl":"10.1016/j.coemr.2024.100541","url":null,"abstract":"<div><p>Bilateral adrenal cortex hyperplasias can present in various forms and are divided as either macronodular or micronodular. This review presents the recent identifications of the genetic alterations responsible for the various forms of cortisol-secreting adrenal hyperplasias. These include the tumor suppressor genes <em>ARMC5</em> in bilateral primary macronodular adrenal hyperplasia (PBMAH) and <em>KDM1A</em> in GIP-dependent PBMAH with Cushing’s syndrome. Other genetic alterations are found in PBMAH associated with rare syndromic forms and various cAMP/PKA pathway gene mutations are involved in both macronodular and micronodular adrenal hyperplasias. We present as well certain clinical recommendations for each genetic etiology, including that <em>ARMC5</em> or <em>KDM1A</em> genetic testing should be offered to all patients with PBMAH, depending on the Cushing syndrome’s GIP-dependence or not.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"36 ","pages":"Article 100541"},"PeriodicalIF":0.0,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2451965024000395/pdfft?md5=75ff7d13bafa41b57854769888e8b971&pid=1-s2.0-S2451965024000395-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141852507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Editorial overview: Genetics of endocrine tumors","authors":"Ali S. Alzahrani, Noha Mukhtar","doi":"10.1016/j.coemr.2024.100538","DOIUrl":"10.1016/j.coemr.2024.100538","url":null,"abstract":"","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"36 ","pages":"Article 100538"},"PeriodicalIF":0.0,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141951272","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}
Andrei V. Gannesen , Sergey V. Mart'yanov, Vladimir K. Plakunov
{"title":"How human hormones regulate human microbiota: Where are we in the middle of this terra incognita?","authors":"Andrei V. Gannesen , Sergey V. Mart'yanov, Vladimir K. Plakunov","doi":"10.1016/j.coemr.2024.100537","DOIUrl":"10.1016/j.coemr.2024.100537","url":null,"abstract":"<div><p>Human organism is tightly interconnected with its microbiota on physiological and signaling levels. Microbial endocrinology as an interdisciplinary area of studying host–microbiota interactions can focus on either player: how the microbiota affects the host via synthesis of host-targeted humoral factors and how the host-derived molecules regulate the microbial community homeostasis. The present mini-review presents the authors' perspective on the impact of human hormones on the microbiota. It discusses known effects, but especially outlines existing complications in this research area, and proposes directions for future investigation.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"36 ","pages":"Article 100537"},"PeriodicalIF":0.0,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141622178","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}
{"title":"Type 1 diabetes mellitus and host–bacterial interactions in the oral cavity","authors":"Ulvi Kahraman Gürsoy , Neslihan Yilmaz , Dogukan Yilmaz , Sanni Grönroos , Mervi Gürsoy","doi":"10.1016/j.coemr.2024.100536","DOIUrl":"10.1016/j.coemr.2024.100536","url":null,"abstract":"<div><p>Type 1 diabetes mellitus (T1DM) is an autoimmune disease which is characterized by the destruction of insulin-producing pancreatic β-cells. Current evidence supports the contribution of T-cells, macrophages, B-cells, and dendritic cells to the pathogenesis of T1DM as well. T1DM-associated risk factors, including defects in host immune response, socioeconomic conditions, and environmental factors create a dysbiotic environment in the oral cavity, which support the growth of pathogenic microbial biofilms. Changes in microbial composition, together with the diminished immune response, lead to the development of two most common oral diseases, caries and periodontal diseases. In the present review, we summarized the current evidence on oral manifestations of T1DM and described the shifts in oral microbial composition and oral immune response.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"36 ","pages":"Article 100536"},"PeriodicalIF":0.0,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2451965024000346/pdfft?md5=a0dd3a5069cc0af9d23b75036a52e4d5&pid=1-s2.0-S2451965024000346-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141393221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Molecular genetics of pheochromocytoma/paraganglioma","authors":"Heather Wachtel , Katherine L. Nathanson","doi":"10.1016/j.coemr.2024.100527","DOIUrl":"https://doi.org/10.1016/j.coemr.2024.100527","url":null,"abstract":"<div><p>Pheochromocytomas and paragangliomas (PPGL) are neuroendocrine tumors which secrete catecholamines, causing cardiovascular compromise. While isolated tumors and locoregional disease can be treated surgically, treatment options for metastatic disease are limited, and no targeted therapies exist. Approximately 25% of PPGL are causatively associated with germline pathogenic variants, which are known risk factors for multifocal and metastatic PPGL. Knowledge of somatic driver mutations continues to evolve. Molecular classification of PPGL has identified three genomic subtypes: Cluster 1 (pseudohypoxia), Cluster 2 (kinase signaling) and Cluster 3 (Wnt-altered). This review summaries recent studies characterizing the tumor microenvironment, genomic drivers of tumorigenesis and progression, and current research on molecular targets for novel diagnostic and therapeutic strategies in PPGL.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"36 ","pages":"Article 100527"},"PeriodicalIF":0.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141486494","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}
{"title":"Erratum regarding missing Declaration of Competing Interest statements in previously published articles","authors":"","doi":"10.1016/j.coemr.2024.100526","DOIUrl":"https://doi.org/10.1016/j.coemr.2024.100526","url":null,"abstract":"","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"36 ","pages":"Article 100526"},"PeriodicalIF":0.0,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2451965024000243/pdfft?md5=1383e4c2531400c689038ed8bd3549a6&pid=1-s2.0-S2451965024000243-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141434208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Metabolic small talk during exercise: The role of metabokines and lipokines in interorgan signalling","authors":"Shaimaa A. Gad , Hannah Smith , Lee D. Roberts","doi":"10.1016/j.coemr.2024.100525","DOIUrl":"10.1016/j.coemr.2024.100525","url":null,"abstract":"<div><p>Metabolites in exercise have traditionally been viewed as a fuel source, waste product, or anabolic components required for exercise-induced biosynthetic processes. However, it is now recognised that metabolites and lipids may act as mediators of interorgan crosstalk to coordinate the local and systemic physiological adaptations required to meet the complex system-wide challenge of exercise. These bioactive metabolite and lipid signals have been termed metabokines and lipokines, respectively. There is emerging evidence that metabokines and lipokines contribute to the health benefits of exercise. This review highlights several of the key recent discoveries related to metabokine and lipokine signalling during exercise. The discovery of these metabokines and lipokines, and their signalling targets, may provide the basis of future therapies for human disease.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"35 ","pages":"Article 100525"},"PeriodicalIF":0.0,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2451965024000231/pdfft?md5=238c91dfa8d3d15927c8756c92aa3f44&pid=1-s2.0-S2451965024000231-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140756257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Biagio Palmisano , Alessandro Corsi , Mara Riminucci
{"title":"Adiponectin expressing skeletal stem/progenitor cells in the bone and bone marrow homeostasis","authors":"Biagio Palmisano , Alessandro Corsi , Mara Riminucci","doi":"10.1016/j.coemr.2024.100524","DOIUrl":"10.1016/j.coemr.2024.100524","url":null,"abstract":"<div><p>The bone marrow stroma supports hematopoiesis while replenishing osteoblasts and adipocytes. These functions rely on different stromal cell populations identified by lineage tracing, phenotypic markers and single-cell transcriptomic analysis. A marrow stromal cell subset expressing <em>Adiponectin</em> (Adipoq<sup>+</sup>) has been reported by different studies in mice. However, while there is a general agreement on the kinetics of Adipoq<sup>+</sup> stromal cells during mouse growth, their ability to generate bone marrow adipocytes and to support the bone vasculature, contrasting results have been reported on their osteogenic activity.</p><p>In this work, we review available data on Adipoq<sup>+</sup> stromal cells, with special focus on the experimental evidence demonstrating their osteoprogenitor function and the potential reasons for the divergence observed among different studies. Furthermore, we discuss the potential overlap of Adipoq<sup>+</sup> cells with other cell populations in the context of the widely recognized adipogenic bias that characterizes many marrow stromal stem cell populations.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"35 ","pages":"Article 100524"},"PeriodicalIF":0.0,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S245196502400022X/pdfft?md5=ab903d733ec060da6596c657520957f6&pid=1-s2.0-S245196502400022X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140791533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Insights into highly selective RET inhibitors in medullary thyroid cancer","authors":"Antonio Matrone, Rossella Elisei","doi":"10.1016/j.coemr.2024.100521","DOIUrl":"10.1016/j.coemr.2024.100521","url":null,"abstract":"<div><p>Medullary thyroid cancer (MTC) is a neuroendocrine malignant tumor that originates from parafollicular C-cells, producing calcitonin. Approximately 75% of cases are sporadic, while the remaining 25% are hereditary. The main molecular alteration implicated in MTC tumorigenesis, whether sporadic or hereditary, is a point mutation in the RET gene. Surgery is the initial treatment of choice, while subsequent treatments are determined based on the tumor burden and rate of progression. While in case of single metastases, low tumor burden with slow rate of progression local treatments are recommended, systemic treatments are warranted in cases with large metastatic disease and rapidly progressive conditions. Beyond multikinase inhibitors (MKIs), new highly selective compounds against RET mutation, with high efficacy and good safety profile, have been recently used in clinical trials for advanced MTC patients.</p><p>This review focuses on the details of systemic treatments with highly selective RET inhibitors for advanced and metastatic MTC.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"35 ","pages":"Article 100521"},"PeriodicalIF":0.0,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140790141","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}