Best practice & research. Clinical endocrinology & metabolism最新文献

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Current views on paediatric phaeochromocytoma and paraganglioma with a focus on newest guidelines. 当前对儿科嗜铬细胞瘤和副神经节瘤的看法,重点是最新指南。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-11-14 DOI: 10.1016/j.beem.2024.101957
Christina Pamporaki, Ruth T Casey
{"title":"Current views on paediatric phaeochromocytoma and paraganglioma with a focus on newest guidelines.","authors":"Christina Pamporaki, Ruth T Casey","doi":"10.1016/j.beem.2024.101957","DOIUrl":"https://doi.org/10.1016/j.beem.2024.101957","url":null,"abstract":"<p><p>Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours which arise from chromaffin cells of the adrenal medulla or extra-adrenal autonomic ganglia. PPGL most commonly present in adulthood but can arise in childhood and adolescence with an estimated annual incidence of 0.5 cases per million children per year. There have been significant advances in the diagnosis and management of PPGL over the past 2-3 decades based largely on the study of adult patients. These advances in clinical knowledge can be applied to paediatric patients but like other cancers, paediatric PPGL must be viewed as a distinct subset with their own specific challenges and opportunities for improved clinical care. This review article provides an overview on the diagnosis and management of PPGL in children focusing on recent international guidance.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101957"},"PeriodicalIF":0.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649974","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
Progress in surgical approaches and outcomes of patients with pheochromocytoma and paraganglioma. 嗜铬细胞瘤和副神经节瘤患者的手术方法和疗效进展。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-09-21 DOI: 10.1016/j.beem.2024.101954
Lindsay R Friedman, Bhavishya Ramamoorthy, Naris Nilubol
{"title":"Progress in surgical approaches and outcomes of patients with pheochromocytoma and paraganglioma.","authors":"Lindsay R Friedman, Bhavishya Ramamoorthy, Naris Nilubol","doi":"10.1016/j.beem.2024.101954","DOIUrl":"10.1016/j.beem.2024.101954","url":null,"abstract":"<p><p>Significant advances have been made in the past few decades in surgical management and outcomes of patients with pheochromocytoma and paraganglioma. Improvements in preoperative hypertensive control with the implementation of alpha- and beta-adrenergic blockade has resulted in better intra-operative blood pressure control and less incidence of hypertensive crises, which had been a large source of morbidity in the past. Emphasis on anesthesia and surgical team communication has also assisted in minimizing intraoperative hypertensive events at critical points of the operation. Shifting away from open resection, the now standard-of-care laparoscopic and minimally invasive adrenalectomy offers less pain, shorter hospitalizations, and quicker recoveries. Patient underlying germline mutations can guide the timing, approach, and extent of surgery. Postoperative outcomes have significantly improved with recent advancements in perioperative care in addition to regimented biochemical and radiographic surveillance. Here, we highlight the recent advancements in surgical approaches and outcomes for patients with pheochromocytoma and paraganglioma.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101954"},"PeriodicalIF":0.0,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376433","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
SDH-related head and neck paragangliomas: Unraveling PET radiomics beyond 18F-FDG. 与 SDH 相关的头颈部副神经节瘤:揭示 18F-FDG 以外的 PET 放射组学。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-08-23 DOI: 10.1016/j.beem.2024.101926
Alessio Imperiale, Valentina Berti
{"title":"SDH-related head and neck paragangliomas: Unraveling PET radiomics beyond <sup>18</sup>F-FDG.","authors":"Alessio Imperiale, Valentina Berti","doi":"10.1016/j.beem.2024.101926","DOIUrl":"https://doi.org/10.1016/j.beem.2024.101926","url":null,"abstract":"<p><p>Radiomics revolutionizes medical imaging by providing quantitative analysis that complements traditional qualitative assessments through advanced computational techniques. In this narrative review we have investigated the impact of succinate dehydrogenase (SDH) pathogenic variants on the radiomic profile of <sup>18</sup>F-FDG, <sup>18</sup>F-DOPA, and <sup>68</sup>Ga-DOTA-peptides PET in paragangliomas, focusing on head and neck localizations (HNPGLs). This influence manifests in uptake intensity and textural heterogeneity, revealing a complex radiomic landscape that may reflect specific tumor behaviors and mutation statuses. By combining radiomic analysis with genetic data, we will gain new insights into the relationship between PET imaging features and underlying molecular changes. In the future, we envision an approach integrating macroscopic indices, such as lesion location, size, and SUV, with advanced computer-based algorithms. This comprehensive analysis could facilitate in vivo predictions of SDH pathogenic variants, thereby encouraging genetic testing, and ultimately improving patient outcomes.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101926"},"PeriodicalIF":0.0,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082832","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 current and upcoming era of radiomics in phaeochromocytoma and paraganglioma. phaeochromocytoma 和副神经节瘤放射组学的当前和未来时代。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-08-23 DOI: 10.1016/j.beem.2024.101923
Zbyněk Tüdös, Lucia Veverková, Jan Baxa, Igor Hartmann, Filip Čtvrtlík
{"title":"The current and upcoming era of radiomics in phaeochromocytoma and paraganglioma.","authors":"Zbyněk Tüdös, Lucia Veverková, Jan Baxa, Igor Hartmann, Filip Čtvrtlík","doi":"10.1016/j.beem.2024.101923","DOIUrl":"https://doi.org/10.1016/j.beem.2024.101923","url":null,"abstract":"<p><p>The topic of the diagnosis of phaeochromocytomas remains highly relevant because of advances in laboratory diagnostics, genetics, and therapeutic options and also the development of imaging methods. Computed tomography still represents an essential tool in clinical practice, especially in incidentally discovered adrenal masses; it allows morphological evaluation, including size, shape, necrosis, and unenhanced attenuation. More advanced post-processing tools to analyse digital images, such as texture analysis and radiomics, are currently being studied. Radiomic features utilise digital image pixels to calculate parameters and relations undetectable by the human eye. On the other hand, the amount of radiomic data requires massive computer capacity. Radiomics, together with machine learning and artificial intelligence in general, has the potential to improve not only the differential diagnosis but also the prediction of complications and therapy outcomes of phaeochromocytomas in the future. Currently, the potential of radiomics and machine learning does not match expectations and awaits its fulfilment.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101923"},"PeriodicalIF":0.0,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127599","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
Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective. 拉丁美洲嗜铬细胞瘤和副神经节瘤的个性化治疗:遗传学视角。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-08-14 DOI: 10.1016/j.beem.2024.101922
Felipe Freitas-Castro, Madson Q Almeida
{"title":"Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective.","authors":"Felipe Freitas-Castro, Madson Q Almeida","doi":"10.1016/j.beem.2024.101922","DOIUrl":"https://doi.org/10.1016/j.beem.2024.101922","url":null,"abstract":"<p><p>Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with clinical heterogeneity and a high association with hereditary disease, affecting approximately 30 % of the cases. Differences in the presentation and genetic etiologies of PPGLs have been demonstrated between Chinese and European patients. The frequency of germline genetic diagnosis was remarkably higher in Brazilian patients (∼50 %) compared with other cohorts (Chinese 21 %, European 31 %, and The Cancer Genome Atlas Program cohort 27 %). Interestingly, germline SDHB genetic defects were also more prevalent in Brazilian patients (17 %) with PPGLs when compared with other cohorts (3-9 %). The SDHB exon 1 deletion was responsible for approximately 50 % of the SDHB pathogenic/likely pathogenic variants in Brazilian patients with PPGLs due to a founder effect. The germline SDHB exon 1 deletion represents ∼10 % of the germline drivers in Brazilian patients (and possibly in Latin America). Therefore, a single diagnostic PCR for the SDHB exon 1 deletion might be very useful in clinical practice for genetic testing and counseling of patients with PPGLs in Latin America.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101922"},"PeriodicalIF":0.0,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147066","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
Autoimmune Addison's disease. 自身免疫性艾迪生病。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2020-01-01 DOI: 10.1056/nejm196312122692422
Serena Saverino, A. Falorni
{"title":"Autoimmune Addison's disease.","authors":"Serena Saverino, A. Falorni","doi":"10.1056/nejm196312122692422","DOIUrl":"https://doi.org/10.1056/nejm196312122692422","url":null,"abstract":"Primary adrenal insufficiency (PAI) occurs in 1/5000-1/7000 individuals in the general population. Autoimmune Addison's disease (AAD) is the major cause of PAI and is a major component of autoimmune polyendocrine syndrome type 1 (APS1) and type 2 (APS2). Presence of 21-hydroxylase autoantibodies (21OHAb) identifies subjects with ongoing clinical or pre-clinical adrenal autoimmunity. AAD requires life-long substitutive therapy with two-three daily doses of hydrocortisone (HC) (15-25 mg/day) or one daily dose of dual-release HC and with fludrocortisone (0.5-2.0 mg/day). The lowest possible HC dose must be identified according to clinical and biochemical parameters to minimize long-term complications that include osteoporosis and cardiovascular and metabolic alterations. Women with AAD have lower fertility and parity as compared to age-matched healthy controls. Patients must be educated to double-triple HC dose in the case of fever or infections and to switch to parenteral HC in the case of vomiting, diarrhoea or acute hypotension.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"1 1","pages":"101379"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1056/nejm196312122692422","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42725642","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: 10
Puberty. 青春期。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2019-02-15 DOI: 10.1002/9781119386230.ch5
M. Zacharin
{"title":"Puberty.","authors":"M. Zacharin","doi":"10.1002/9781119386230.ch5","DOIUrl":"https://doi.org/10.1002/9781119386230.ch5","url":null,"abstract":"","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"1 1","pages":"101301"},"PeriodicalIF":0.0,"publicationDate":"2019-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/9781119386230.ch5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43739674","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
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