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Assessing the impact of a dedicated referral and management algorithm in maternal hypothyroidism. 评估专用转诊和管理算法对孕产妇甲状腺功能减退症的影响。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-29 DOI: 10.23736/S2724-6507.24.04265-9
Jeremy A Knott, Michael J Bennett, Malgorzata M Brzozowska

Background: The significant risks of hypothyroidism during pregnancy can be mitigated through timely diagnosis and initiation of thyroxine to achieve a maternal euthyroid state. This study aimed to evaluate the efficiency of hospital endocrine services by assessing the rate of thyroxine commencement before the initial clinic appointment, the median gestational age at the first consultation, the rate of guideline-appropriate investigations, perinatal outcomes, and the proportion of referred patients who achieved their target thyroid-stimulating hormone (TSH) levels before and after implementing a dedicated referral and management pathway.

Methods: A retrospective clinical audit was conducted using electronic medical records for the first fifty consecutive patients with hypothyroidism referred to the hospital clinic during two-time intervals: from April 1 to September 1, 2020 (pre-intervention) and from April 1 to September 1, 2021 (postintervention).

Results: Following the pathway implementation, there was no significant difference in the proportion of women with initially raised TSH who were prescribed thyroxine prior to the first clinic appointment (P=0.83). However, the first TSH measurement occurred earlier (median 5.5 vs. 6.5 weeks, P=0.011), and specialist reviews were conducted sooner (median 19 vs. 22 weeks, P=0.032). Significantly more women with elevated TSH underwent thyroid autoantibody testing postintervention (78% vs. 55.5%, P=0.035). There was no significant difference in perinatal outcomes. All women achieved their target TSH levels, with a median final TSH of 1.6 mIU/L (IQR: 1.2 to 2.3).

Conclusions: While the proportion of referred patients achieving target TSH levels during pregnancy remained unchanged, certain measures of service efficiency improved. These included earlier TSH measurement, earlier endocrinologist review, and increased detection of thyroid autoantibodies.

背景:妊娠期甲状腺功能减退症的重大风险可通过及时诊断和开始使用甲状腺素来减轻,从而使孕妇达到甲状腺功能正常状态。本研究旨在评估医院内分泌服务的效率,具体方法包括评估首次门诊预约前开始使用甲状腺素的比例、首次就诊时的中位胎龄、指南适用的检查比例、围产期结局,以及在实施专门的转诊和管理路径前后,达到目标促甲状腺激素(TSH)水平的转诊患者比例:在2020年4月1日至9月1日(干预前)和2021年4月1日至9月1日(干预后)两个时间段内,利用电子病历对转诊到医院门诊的前50名连续甲减患者进行了回顾性临床审计:实施路径后,TSH首次升高的妇女在首次就诊前获得甲状腺素处方的比例没有显著差异(P=0.83)。不过,首次 TSH 测量的时间提前了(中位数为 5.5 周对 6.5 周,P=0.011),专家复查的时间也提前了(中位数为 19 周对 22 周,P=0.032)。干预后接受甲状腺自身抗体检测的 TSH 升高女性明显增多(78% 对 55.5%,P=0.035)。围产期结果无明显差异。所有妇女都达到了目标 TSH 水平,最终 TSH 中位数为 1.6 mIU/L(IQR:1.2 至 2.3):虽然转诊患者在孕期达到目标 TSH 水平的比例保持不变,但某些服务效率指标有所提高。结论:虽然转诊患者在孕期达到目标 TSH 水平的比例没有变化,但某些服务效率却有所提高,其中包括更早地测量 TSH、更早地由内分泌专家进行复查,以及更多地对甲状腺自身抗体进行检测。
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引用次数: 0
Divulging the overlooked condition: diabetic ketoacidosis as an imminent risk with sodium-glucose co-transporter-2 inhibitors treatment in type 2 diabetes mellitus. 揭示被忽视的病情:糖尿病酮症酸中毒是钠-葡萄糖协同转运体-2 抑制剂治疗 2 型糖尿病的一个迫在眉睫的风险。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-10 DOI: 10.23736/S2724-6507.24.04235-0
Ubaidullah Yousafzai, Afnan Hashmi, Malaika Saqib
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引用次数: 0
Obesity prevention across the lifespan: assessing the efficacy of intervention studies and discussing future challenges. 跨越生命周期的肥胖症预防:评估干预研究的效果并讨论未来的挑战。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-09 DOI: 10.23736/S2724-6507.24.04077-6
Raffaella Cancello, Luisella Vigna, Antonella DI Maggio, Paolo Capodaglio, Simona Bertoli, Amelia Brunani

Introduction: Obesity is intricately linked with metabolic conditions that disrupt hormones and metabolism, often resulting in weight-related challenges. Given the heightened mortality rates associated with cardiovascular and metabolic disorders linked to obesity, there is a pressing call to mobilize medical professionals, researchers, and policymakers towards advocating for healthy lifestyles and preventing obesity. Traditionally, obesity prevention and treatment have been viewed as separate endeavors, with prevention primarily falling under public health initiatives and treatment within the purview of clinicians. However, this division has led to significant healthcare costs without a substantial reduction in obesity rates.

Evidence acquisition: Our search encompassed published articles focused on prevention, excluding any mention of "treatment". Data was gathered from diverse sources including academic databases, government health agency websites like the CDC, research organizations, clinical trials registries, and public health campaigns.

Evidence synthesis: Due to the diverse range of interventions (encompassing dietary modifications, physical activity promotion, policy initiatives, education, and community-based programs, either independently or in combination), and the variability in study design and population demographics, we conducted a narrative review to systematically present and critically analyze evidence on preventing overweight and obesity across different age groups.

Conclusions: Effectively addressing obesity prevention necessitates a comprehensive, multidisciplinary approach that establishes an environment where healthier choices are accessible and viable for all. This requires collaborative efforts between individuals, communities, healthcare providers, policymakers, and industries to institute enduring change. Furthermore, there remains a critical need for national and international guidelines tailored to age-related risk factors, paving the way for innovative precision medicine approaches centered on salutogenesis rather than pathogenesis.

引言肥胖与新陈代谢紊乱密切相关,这些紊乱的激素和新陈代谢往往会导致与体重相关的问题。鉴于与肥胖有关的心血管疾病和新陈代谢紊乱导致的死亡率升高,人们迫切要求动员医疗专业人员、研究人员和决策者倡导健康的生活方式并预防肥胖。传统上,肥胖症的预防和治疗被视为不同的工作,预防主要属于公共卫生活动,而治疗则属于临床医生的职权范围。然而,这种分工导致了巨大的医疗成本,却没有大幅降低肥胖率:我们的搜索范围包括已发表的以预防为重点的文章,不包括任何提及 "治疗 "的文章。数据收集来源多样,包括学术数据库、疾病预防控制中心等政府卫生机构网站、研究机构、临床试验登记处和公共卫生运动:由于干预措施多种多样(包括膳食调整、促进体育锻炼、政策措施、教育和社区计划,可以单独使用,也可以结合使用),而且研究设计和人群特征各不相同,因此我们进行了叙述性综述,系统地介绍并批判性地分析了不同年龄组预防超重和肥胖的证据:要有效预防肥胖,就必须采取全面、多学科的方法,营造一个人人都能获得更健康选择的环境。这需要个人、社区、医疗保健提供者、政策制定者和各行各业通力合作,才能实现持久的变革。此外,目前仍亟需针对与年龄有关的风险因素制定国家和国际指南,为以致富而非致病为中心的创新型精准医疗方法铺平道路。
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引用次数: 0
Follicle-stimulating hormone receptor gene polymorphisms influence Body Mass Index, metabolism, and bone mineral density in postmenopausal women. 卵泡刺激素受体基因多态性影响绝经后妇女的体重指数、新陈代谢和骨矿物质密度。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-30 DOI: 10.23736/S2724-6507.24.04177-0
Rossella Cannarella, Agnese Andaloro, Maria A Caruso, Nicolò Musso, Federica Barbagallo, Rosita A Condorelli, Sandro LA Vignera, Aldo E Calogero

Background: Covering a significant part of a woman's life, the postmenopausal phase is often associated with the onset of obesity, metabolic dysfunction, osteoporosis, and their most disabling complications. In this context, scant evidence from both preclinical and clinical studies suggests that single nucleotide polymorphisms (SNPs) of the follicle-stimulating hormone receptor (FSHR) gene might be involved in the etiopathogenesis of these conditions, posing them as possible molecular predictors of their development. Therefore, this study aimed to evaluate the role of the FSHR gene SNPs c.2039A>G and c.-29 G>A on Body Mass Index (BMI), metabolic parameters, and bone metabolism in postmenopausal women.

Methods: To achieve this goal, 49 postmenopausal Caucasian women aged from 45 to 80 years and with no factors known to influence metabolism and/or bone mineral density (BMD) were enrolled and assessed for their medical history, medical family history, anthropometric parameters and hormonal, metabolic and lipid profiles, and BMD. Then, they were genotyped for the FSHR gene SNPs c.2039A>G and c.-29G>A. Finally, the resulting data were classified according to woman's genotypes and subjected to statistical analysis.

Results: No significant differences were found between the distributions of most endpoint parameters examined by genotype. However, none of the women with the c.2039A>G FSHR GG gene SNP were affected by obesity and had the highest lumbar BMD z-score within the cohort. Additionally, those with the FSHR c.-29G>A AA genotype had the lowest serum glucose levels.

Conclusions: This preliminary study suggests that the FSHR c.2039A>G GG SNP, which is associated with reduced sensitivity of the FSHR, may have a protective role against obesity, offering further evidence for the possible association among FSH, FSHR polymorphisms, and insulin metabolism.

背景:绝经后阶段是妇女一生中的重要阶段,往往与肥胖、代谢功能障碍、骨质疏松症及其最严重的致残性并发症的发生有关。在这种情况下,临床前和临床研究的少量证据表明,卵泡刺激素受体(FSHR)基因的单核苷酸多态性(SNPs)可能与这些病症的发病机制有关,并可能成为这些病症发生的分子预测因子。因此,本研究旨在评估 FSHR 基因 SNP c.2039A>G 和 c.-29 G>A 对绝经后妇女体重指数(BMI)、代谢参数和骨代谢的影响:为了实现这一目标,研究人员招募了 49 名绝经后的白种女性,她们的年龄在 45 至 80 岁之间,没有已知的影响新陈代谢和/或骨矿物质密度(BMD)的因素,研究人员对她们的病史、家族病史、人体测量参数、激素、新陈代谢和血脂概况以及 BMD 进行了评估。然后,对他们进行 FSHR 基因 SNP c.2039A>G 和 c.-29G>A 的基因分型。最后,根据妇女的基因型对所得数据进行分类,并进行统计分析:结果:大多数终点参数的分布在不同基因型之间没有发现明显差异。但是,具有 c.2039A>G FSHR GG 基因 SNP 的妇女都没有受到肥胖的影响,而且她们的腰椎 BMD z 分数在队列中最高。此外,FSHR c.-29G>A AA 基因型的女性血清葡萄糖水平最低:这项初步研究表明,FSHR c.2039A>G GG SNP 与 FSHR 敏感性降低有关,可能对肥胖具有保护作用,为 FSH、FSHR 多态性和胰岛素代谢之间可能存在的关联提供了进一步的证据。
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引用次数: 0
Inpatient palliative care in metastatic adrenocortical carcinoma: a retrospective analysis using the National Inpatient Sample database. 转移性肾上腺皮质癌的住院姑息治疗:利用全国住院病人抽样数据库进行的回顾性分析。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-30 DOI: 10.23736/S2724-6507.24.04185-X
Letizia M Jannello, Carolin Siech, Andrea Baudo, Mario de Angelis, Francesco DI Bello, Jordan A Goyal, Zhe Tian, Stefano Luzzago, Francesco A Mistretta, Elisa de Lorenzis, Fred Saad, Felix K Chun, Alberto Briganti, Luca Carmignani, Nicola Longo, Ottavio de Cobelli, Gennaro Musi, Pierre I Karakiewicz

Background: The use of inpatient palliative care (IPC) in advanced cancer patients represents a well-established guideline recommendation. This study examines the utilization rates and patterns of IPC among patients with metastatic adrenocortical carcinoma (mACC).

Methods: Relying on the Nationwide Inpatient Sample database (2007-2019), we tabulated IPC rates in mACC patients. Estimated annual percentage changes (EAPC) analyses as well as multivariable logistic regression models (MLRM) predicting IPC use were fitted.

Results: Of 2040 mACC patients, 238 (12%) received IPC. Overall, the rate of IPC increased from 3.7% to 19.1% between 2007 and 2019 (EAPC +9.6%, P=0.001). During the same period, in-hospital mortality remained unchanged from 12.1 to 13.8% (EAPC 0.1%; P=0.97). Younger age at admission (<60 years; MLRM OR=0.70, P=0.013), solitary metastatic site (OR=0.63; P=0.015), and non-brain metastases (OR=0.62; P=0.033) were all associated with lower IPC use.

Conclusions: In mACC patients, IPC use has increased from a marginal 3.7% to a moderate annual value of 19.1% in the most recent study year. These rates were not driven by a concomitant increase in in-hospital mortality (12.1% to 13.8%; P=0.9). and may be interpreted as an improvement in quality of care. Despite this encouraging increase, some patient characteristics herald lower IPC use. In consequence, younger patients, those with solitary metastatic sites, and non-brain metastases should be carefully considered for IPC to decrease or completely reduce the IPC access barrier maximally.

背景:在晚期癌症患者中使用住院姑息治疗(IPC)是一项行之有效的指南建议。本研究探讨了转移性肾上腺皮质癌(mACC)患者使用姑息治疗的比例和模式:方法:根据全国住院患者抽样数据库(2007-2019 年),我们统计了 mACC 患者的 IPC 使用率。结果:在 2040 名 mACC 患者中,有 1.6% 的患者使用了 IPC:在 2040 名 mACC 患者中,238 人(12%)接受了 IPC。总体而言,2007年至2019年期间,IPC的使用率从3.7%增至19.1%(EAPC +9.6%,P=0.001)。同期,院内死亡率保持不变,从12.1%降至13.8%(EAPC 0.1%;P=0.97)。入院时年龄较小(结论:在 mACC 患者中,IPC 的使用率已从 3.7% 的微弱水平上升到最近研究年度 19.1% 的中等水平。院内死亡率(从12.1%上升到13.8%;P=0.9)并没有随之增加。尽管这一增长令人鼓舞,但一些患者的特征预示着IPC的使用率较低。因此,应慎重考虑年轻患者、单发转移部位患者和非脑部转移患者使用IPC,以最大限度地减少或完全消除IPC使用障碍。
{"title":"Inpatient palliative care in metastatic adrenocortical carcinoma: a retrospective analysis using the National Inpatient Sample database.","authors":"Letizia M Jannello, Carolin Siech, Andrea Baudo, Mario de Angelis, Francesco DI Bello, Jordan A Goyal, Zhe Tian, Stefano Luzzago, Francesco A Mistretta, Elisa de Lorenzis, Fred Saad, Felix K Chun, Alberto Briganti, Luca Carmignani, Nicola Longo, Ottavio de Cobelli, Gennaro Musi, Pierre I Karakiewicz","doi":"10.23736/S2724-6507.24.04185-X","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04185-X","url":null,"abstract":"<p><strong>Background: </strong>The use of inpatient palliative care (IPC) in advanced cancer patients represents a well-established guideline recommendation. This study examines the utilization rates and patterns of IPC among patients with metastatic adrenocortical carcinoma (mACC).</p><p><strong>Methods: </strong>Relying on the Nationwide Inpatient Sample database (2007-2019), we tabulated IPC rates in mACC patients. Estimated annual percentage changes (EAPC) analyses as well as multivariable logistic regression models (MLRM) predicting IPC use were fitted.</p><p><strong>Results: </strong>Of 2040 mACC patients, 238 (12%) received IPC. Overall, the rate of IPC increased from 3.7% to 19.1% between 2007 and 2019 (EAPC +9.6%, P=0.001). During the same period, in-hospital mortality remained unchanged from 12.1 to 13.8% (EAPC 0.1%; P=0.97). Younger age at admission (<60 years; MLRM OR=0.70, P=0.013), solitary metastatic site (OR=0.63; P=0.015), and non-brain metastases (OR=0.62; P=0.033) were all associated with lower IPC use.</p><p><strong>Conclusions: </strong>In mACC patients, IPC use has increased from a marginal 3.7% to a moderate annual value of 19.1% in the most recent study year. These rates were not driven by a concomitant increase in in-hospital mortality (12.1% to 13.8%; P=0.9). and may be interpreted as an improvement in quality of care. Despite this encouraging increase, some patient characteristics herald lower IPC use. In consequence, younger patients, those with solitary metastatic sites, and non-brain metastases should be carefully considered for IPC to decrease or completely reduce the IPC access barrier maximally.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350174","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
Adherence to Mediterranean diet and prevalence of differentiated thyroid cancer: a single-center Unit of Thyroid Surgery experience in a Southern-Italy cohort. 坚持地中海饮食与分化型甲状腺癌的发病率:意大利南部队列中甲状腺外科单中心的经验。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-30 DOI: 10.23736/S2724-6507.24.04173-3
Alessandro Monaco, Ludovica Verde, Marcello Filograna Pignatelli, Annamaria Docimo, Sonia Ferrandes, Luigi Barrea, Francesco Calisti, Giovanni Cozzolino, Giovanna Muscogiuri, Giovanni Docimo

Background: The Mediterranean diet (MD) is recognized as a cultural heritage by UNESCO, thus, is a nutritional model widely spread in all Mediterranean countries. As already demonstrated by several studies, high adherence to MD is a protective factor against many chronic diseases. Conversely, poor adherence to the diet is correlated with an increased prevalence of these pathologies. The aim of the current study was to investigate the relationship between the adherence to MD and the prevalence of benign and malignant thyroid disease.

Methods: We analyzed the health status of 60 patients, referred to total thyroidectomy and histological examination, due to nodular thyroid disease. Eating habits were evaluated according to the PREDIMED questionnaire, and patients' results were evaluated according to histological findings of benign or malignant disease.

Results: PREDIMED Score was lower in patients with malignant thyroid disease (MTD) than those with benign thyroid disease (BTD) (5.27±0.87 vs. 7.00±1.23, respectively; P value <0.001). A significant correlation was found between poor adherence to MD and diagnosis of MTD (r=0.454; P<0.001). Excessive consumption of butter and sugary drinks, along with low consumption of pasta, white meat, and rice were found to be predictive factors of MTD.

Conclusions: In our cohort, a PREDIMED Score ≤7 resulted significantly related to MTD diagnosis, while a good adherence to MD resulted associated with BTD. Moreover, high consumption of sweetened beverages seemed to predict MTD histologic diagnosis, while, conversely, low consumption resulted predictor of BTD. Nevertheless, more studies are needed to evaluate the effective impact of MD on MTD incidence on larger cohorts.

背景:地中海饮食(Mediterranean diet,MD)被联合国教科文组织认定为文化遗产,因此是一种在所有地中海国家广泛传播的营养模式。多项研究表明,高度坚持地中海饮食是预防多种慢性疾病的保护因素。相反,对饮食的不良坚持则与这些病症的发病率增加有关。本研究的目的是调查坚持MD与甲状腺良性和恶性疾病发病率之间的关系:我们分析了60名因甲状腺结节病而接受甲状腺全切除术和组织学检查的患者的健康状况。根据 PREDIMED 问卷对饮食习惯进行评估,并根据良性或恶性疾病的组织学检查结果对患者的健康状况进行评估:结果:恶性甲状腺疾病(MTD)患者的 PREDIMED 评分低于良性甲状腺疾病(BTD)患者(分别为 5.27±0.87 对 7.00±1.23;P 值 结论:在我们的队列中,PREDIMED 评分低于良性甲状腺疾病(BTD)患者(分别为 5.27±0.87 对 7.00±1.23;P 值):在我们的队列中,PREDIMED评分≤7与MTD诊断有显著相关性,而良好的MD依从性则与BTD相关。此外,甜饮料的高消费量似乎预示着 MTD 的组织学诊断,反之,低消费量则预示着 BTD。尽管如此,还需要更多的研究来评估 MD 对更大规模的 MTD 发病率的有效影响。
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引用次数: 0
Can nutraceuticals counteract the detrimental effects of the environment on male fertility? A parallel systematic review and expert opinion. 营养保健品能否抵消环境对男性生育能力的不利影响?系统回顾与专家意见并行。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-11 DOI: 10.23736/S2724-6507.24.04218-0
Tommaso Cai, Luca Boeri, Carlos Miacola, Fabrizio Palumbo, Giancarlo Albo, Pasquale Ditonno, Vito Racanelli, Alessandro Palmieri, Truls E Bjerklund Johansen, Antonio Aversa

Introduction: Male fertility relies on a complex physiology that may be negatively influenced by lifestyle, diet, and environment. The beneficial effect of nutraceuticals on male fertility is a debated claim. The aim of this study was to assess if the positive effect of nutraceuticals can counteract the negative effects of the environment on male fertility.

Evidence acquisition: PubMed®/MEDLINE®, Embase and Cochrane Database were searched (September-October 2023), along with crosschecking of references and search for ongoing studies of the effects of the environment and nutraceuticals on male fertility, in accordance with the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).

Evidence synthesis: Several environmental factors such as microplastic and other endocrine-disrupting chemicals and climate changes may affect the sperm quality in terms of reduction of sperm count number, mobility and altered morphology and thereby reduce male fertility. On the other hand, new evidence demonstrates that a balanced diet rich in antioxidants and essential nutrients, together with minimized exposure to environmental toxins, may improve male fertility and reproductive health. Several nutraceutical compounds proved a protective role against negative environmental effects on male fertility.

Conclusions: Available evidence confirms that the environment may negatively impact male fertility, and this impact is estimated to rise in the forthcoming years. On the other hand, new data indicate that nutraceuticals may have a protective role against the negative impact of environmental factors on male fertility. The need for future studies to monitor and explore these aspects of men's health cannot be underestimated.

简介男性生育能力依赖于复杂的生理机能,而生活方式、饮食和环境可能会对其产生负面影响。营养保健品对男性生育能力的有利影响是一个有争议的说法。本研究旨在评估营养保健品的积极作用能否抵消环境对男性生育能力的负面影响:根据系统综述和荟萃分析首选报告项目(PRISMA)的指导原则,对PubMed®/MEDLINE®、Embase和Cochrane数据库进行了检索(2023年9月至10月),同时交叉检查了参考文献,并搜索了环境和营养保健品对男性生育能力影响的正在进行的研究:微塑料和其他干扰内分泌的化学物质以及气候变化等一些环境因素可能会影响精子质量,如精子数量减少、流动性降低和形态改变等,从而降低男性生育能力。另一方面,新的证据表明,富含抗氧化剂和必需营养素的均衡饮食,再加上尽量减少接触环境毒素,可以提高男性的生育能力和生殖健康。有几种营养保健品化合物证明,它们对环境对男性生育能力的负面影响具有保护作用:现有证据证实,环境可能会对男性生育能力产生负面影响,而且这种影响在未来几年内估计还会上升。另一方面,新的数据表明,营养保健品可能对环境因素对男性生育能力的负面影响起到保护作用。我们不能低估今后对男性健康的这些方面进行监测和探索研究的必要性。
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引用次数: 0
Genetic and epigenetic modulation of AHR pathway in GH-secreting pituitary tumors and effects on acromegaly clinical phenotype. 分泌 GH 的垂体瘤中 AHR 通路的遗传和表观遗传调节及其对肢端肥大症临床表型的影响。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-06 DOI: 10.23736/S2724-6507.24.04183-6
Aurelio Minuti, Giuseppe Giuffrida, Marta Ragonese, Ylenia Alessi, Francesco Ferraù, Salvatore Cannavò

Introduction: Several data demonstrated that chemical pollutants can be endocrine disruptors and they have an important role in tumorigenic processes. It has been shown that pollution exposure can affect pituitary cells' function and biology, indeed an increased prevalence of acromegaly has been reported in highly polluted areas.

Evidence acquisition: One transcription factor that has a role in both carcinogenesis and in xenobiotics' detoxification is the aryl hydrocarbon receptor (AHR). Its deregulation could have a pivotal role in pituitary tumors, especially in GH-secreting pituitary tumors. Environmental chemicals affect the expression and function of ncRNAs (miRNA, lncRNA and circRNA) through different mechanisms.

Evidence synthesis: However, to date, few data on the role of the environmental pollutants in the clinical expression and pathogenesis of GH-secreting pituitary tumors are available.

Conclusions: This article presents a summary of the AHR signaling pathways that are triggered by various ligands and emphasizes the significant distinctions between the potential biological and toxicological effects of AHR gene activation. We also deepen the functions of ncRNAs and acromegaly and provide current data on their regulation by the AHR. Overall, more studies are still needed to fully understand the dynamic interplay between the AHR signaling pathway and ncRNAs in GH-secreting pituitary adenomas.

导言:一些数据表明,化学污染物可能是内分泌干扰物,在肿瘤发生过程中起着重要作用。有研究表明,接触污染会影响垂体细胞的功能和生物学特性,事实上,在污染严重的地区,肢端肥大症的发病率有所上升:芳基烃受体(AHR)是一种转录因子,在致癌和异种生物解毒过程中都有作用。它的失调可能在垂体瘤中起着关键作用,尤其是在分泌促生长激素的垂体瘤中。环境化学物质通过不同机制影响 ncRNA(miRNA、lncRNA 和 circRNA)的表达和功能。证据综述:然而,迄今为止,有关环境污染物在分泌 GH 的垂体瘤的临床表达和发病机制中的作用的数据很少:本文总结了各种配体触发的 AHR 信号通路,并强调了 AHR 基因激活的潜在生物学效应和毒理学效应之间的显著区别。我们还深化了 ncRNAs 的功能和渐冻症,并提供了 AHR 对其调控的最新数据。总之,要全面了解 AHR 信号通路和 ncRNAs 在分泌 GH 的垂体腺瘤中的动态相互作用,还需要更多的研究。
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引用次数: 0
Repeatedly non-diagnostic thyroid nodules: the experience of two thyroid clinics. 反复无法诊断的甲状腺结节:两家甲状腺诊所的经验。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-06 DOI: 10.23736/S2724-6507.24.04152-6
Filippo Egalini, Mattia Rossi, Chiara Mele, Yanina Lizet Castillo, Francesca Maletta, Barbara Puligheddu, Ezio Ghigo, Ruth Rossetto Giaccherino, Loredana Pagano, Mauro Papotti

Background: The clinical management of repeatedly non-diagnostic thyroid nodules (RNDNs) via fine needle aspiration cytology (FNAc) is a matter of debate because current recommendations and clinical practice are not based on high-quality evidence. Our purpose was to characterize RNDNs and evaluate their clinical management in our centers.

Methods: This retrospective observational study included 319 consecutive patients who underwent ultrasound (US-)guided FNAc in two Italian academic hospitals between 2016 and 2020 and had previous cytology non-diagnostic result (TIR1). Clinical management and anamnestic data were retrieved, and the cytological specimens and US exams were double-blindly reviewed by two pathologists and endocrinologists.

Results: The risk of RNDNs was significantly greater in hypoechogenic nodules (Odds Ratio [OR]=1.727, 95% confidence Interval [CI]: 1.090-2.735, P=0.02) and lower in nodules that had been recognized less than 10 years before (OR=0.349, 95% CI: 0.153-0.796, P=0.01). Clinicians chose to directly perform surgery on multinodular, intermediate-risk nodules (as per AACE/AME guidelines and EUTIRADS class 4), while larger (P<0.0001) and uninodular (P=0.03) lesions were further investigated with a third FNAc. Only 16 RNDNs were sent to surgery. Twelve nodules turned out to be benign goiters with a high rate of fibrosis, while only 3 were definitively malignant. However, retrospectively, all the malignant ones exhibited higher-risk ultrasound features and had an undetermined result (TIR3B) at the third cytological evaluation.

Conclusions: In a real-life context, RNDNs exhibited a very low rate of malignancy and were mostly long-known goiters with regressive changes, as suggested by a hypoechoic pattern. Consequently, a clinical-US surveillance approach could be cautiously hypothesized, while greater attention could be given to larger and higher-US-risk (both as EUTIRADS 4-5 and AACE/AME intermediate- and high-risk classes) nodules.

背景:通过细针穿刺细胞学检查(FNAc)对反复无诊断性甲状腺结节(RNDNs)进行临床管理是一个争论不休的问题,因为目前的建议和临床实践并非基于高质量的证据。我们的目的是描述 RNDNs 的特征,并评估我们中心的临床管理情况:这项回顾性观察研究纳入了 2016 年至 2020 年期间在两家意大利学术医院接受超声(US)引导 FNAc 的 319 例连续患者,这些患者之前都有细胞学非诊断性结果(TIR1)。研究人员检索了临床管理和病理数据,并由两名病理学家和内分泌学家对细胞学标本和超声检查进行了双盲审查:结果:低糜烂性结节发生 RNDNs 的风险明显更高(Odds Ratio [OR]=1.727,95% 置信区间 [CI]:1.090-2.735,P=0.02),而 10 年前发现的结节发生 RNDNs 的风险更低(OR=0.349,95% 置信区间 [CI]:0.153-0.796,P=0.01)。临床医生选择直接对多结节、中危结节(根据 AACE/AME 指南和 EUTIRADS 4 级)进行手术治疗,而对较大的结节(PConclusions:在现实生活中,RNDNs 的恶性率非常低,而且大多是长期已知的甲状腺肿,具有退行性变化,如低回声模式所示。因此,可以谨慎地假设采用临床-美国监测方法,同时对较大和美国风险较高(包括 EUTIRADS 4-5 级和 AACE/AME 中高危级别)的结节给予更多关注。
{"title":"Repeatedly non-diagnostic thyroid nodules: the experience of two thyroid clinics.","authors":"Filippo Egalini, Mattia Rossi, Chiara Mele, Yanina Lizet Castillo, Francesca Maletta, Barbara Puligheddu, Ezio Ghigo, Ruth Rossetto Giaccherino, Loredana Pagano, Mauro Papotti","doi":"10.23736/S2724-6507.24.04152-6","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04152-6","url":null,"abstract":"<p><strong>Background: </strong>The clinical management of repeatedly non-diagnostic thyroid nodules (RNDNs) via fine needle aspiration cytology (FNAc) is a matter of debate because current recommendations and clinical practice are not based on high-quality evidence. Our purpose was to characterize RNDNs and evaluate their clinical management in our centers.</p><p><strong>Methods: </strong>This retrospective observational study included 319 consecutive patients who underwent ultrasound (US-)guided FNAc in two Italian academic hospitals between 2016 and 2020 and had previous cytology non-diagnostic result (TIR1). Clinical management and anamnestic data were retrieved, and the cytological specimens and US exams were double-blindly reviewed by two pathologists and endocrinologists.</p><p><strong>Results: </strong>The risk of RNDNs was significantly greater in hypoechogenic nodules (Odds Ratio [OR]=1.727, 95% confidence Interval [CI]: 1.090-2.735, P=0.02) and lower in nodules that had been recognized less than 10 years before (OR=0.349, 95% CI: 0.153-0.796, P=0.01). Clinicians chose to directly perform surgery on multinodular, intermediate-risk nodules (as per AACE/AME guidelines and EUTIRADS class 4), while larger (P<0.0001) and uninodular (P=0.03) lesions were further investigated with a third FNAc. Only 16 RNDNs were sent to surgery. Twelve nodules turned out to be benign goiters with a high rate of fibrosis, while only 3 were definitively malignant. However, retrospectively, all the malignant ones exhibited higher-risk ultrasound features and had an undetermined result (TIR3B) at the third cytological evaluation.</p><p><strong>Conclusions: </strong>In a real-life context, RNDNs exhibited a very low rate of malignancy and were mostly long-known goiters with regressive changes, as suggested by a hypoechoic pattern. Consequently, a clinical-US surveillance approach could be cautiously hypothesized, while greater attention could be given to larger and higher-US-risk (both as EUTIRADS 4-5 and AACE/AME intermediate- and high-risk classes) nodules.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140559","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
Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges. 内分泌和代谢紊乱中的巨舌症:现有证据、前景和挑战。
IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-07-31 DOI: 10.23736/S2724-6507.24.04219-2
Rodopi Emfietzoglou, Giovanna Muscogiuri, Dimitrios Tsilingiris, Dimitrios Kounatidis, Theodora Stratigou, Natalia Vallianou, Irene Karampela, Efthimia K Basdra, Maria Dalamaga

Macroglossia is an uncommon condition characterized by chronic, painless and abnormal enlargement of the tongue. A multitude of medical conditions can cause macroglossia. Major endocrine and metabolic disorders associated with macroglossia include genetic, congenital and acquired conditions, such as mucopolysaccharidoses; acquired and congenital hypothyroidism and myxedema; transient neonatal diabetes mellitus; acromegaly and amyloidosis. Macroglossia is often associated (~57-60%) with all types of mucopolysaccharidoses, particularly type I (Hurler syndrome) and type II (Hunter syndrome), being a prominent feature of the disorder. It may also occur in patients with acquired and congenital hypothyroidism and myxedema, being a common sign of congenital hypothyroidism with an approximate prevalence of 12-25% at the time of diagnosis. Macroglossia is a predominant oral finding in subjects with transient neonatal diabetes mellitus (~44%), acromegaly (54-69%) and amyloidosis (10-25%), particularly AL amyloidosis (20-40%) whereas is considered a hallmark of the disease. Secondary to macroglossia various disturbances may occur, such as difficulty in speech or eating, orthodontic anomalies or even more serious conditions including upper airway obstruction or obstructive sleep apnea. Until now, no comprehensive review has been conducted focusing on macroglossia in endocrine and metabolic disorders. The objective of this review is to summarize literature on the etiology and epidemiology of macroglossia in major endocrine and metabolic disorders. It highlights key aspects such as pathophysiology, clinical presentation, diagnostic evaluation, management and prognosis of macroglossia in the context of endocrine and metabolic disorders.

巨舌症是一种不常见的疾病,其特点是舌头慢性、无痛且异常肿大。多种疾病都可能导致巨舌症。与巨舌症有关的主要内分泌和代谢疾病包括遗传性、先天性和后天性疾病,如粘多糖病;后天性和先天性甲状腺功能减退症和肌水肿;一过性新生儿糖尿病;肢端肥大症和淀粉样变性。巨舌症通常(约 57-60%)与所有类型的粘多糖病有关,尤其是 I 型(赫勒综合征)和 II 型(亨特综合征),是该疾病的一个显著特征。后天性和先天性甲状腺功能减退症和肌水肿患者也可能出现巨舌症,这是先天性甲状腺功能减退症的常见症状,诊断时的发病率约为12%-25%。在患有一过性新生儿糖尿病(约44%)、肢端肥大症(54-69%)和淀粉样变性(10-25%),尤其是AL淀粉样变性(20-40%)的受试者中,巨舌是主要的口腔发现,而这被认为是该疾病的标志。巨舌症可能会继发各种障碍,如说话或进食困难、牙齿畸形或更严重的情况,包括上气道阻塞或阻塞性睡眠呼吸暂停。迄今为止,还没有针对大口畸形在内分泌和代谢紊乱中的表现进行过全面的综述。本综述旨在总结有关主要内分泌和代谢性疾病中巨口症的病因学和流行病学的文献。它强调了内分泌和代谢性疾病中巨口症的病理生理学、临床表现、诊断评估、管理和预后等关键方面。
{"title":"Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges.","authors":"Rodopi Emfietzoglou, Giovanna Muscogiuri, Dimitrios Tsilingiris, Dimitrios Kounatidis, Theodora Stratigou, Natalia Vallianou, Irene Karampela, Efthimia K Basdra, Maria Dalamaga","doi":"10.23736/S2724-6507.24.04219-2","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04219-2","url":null,"abstract":"<p><p>Macroglossia is an uncommon condition characterized by chronic, painless and abnormal enlargement of the tongue. A multitude of medical conditions can cause macroglossia. Major endocrine and metabolic disorders associated with macroglossia include genetic, congenital and acquired conditions, such as mucopolysaccharidoses; acquired and congenital hypothyroidism and myxedema; transient neonatal diabetes mellitus; acromegaly and amyloidosis. Macroglossia is often associated (~57-60%) with all types of mucopolysaccharidoses, particularly type I (Hurler syndrome) and type II (Hunter syndrome), being a prominent feature of the disorder. It may also occur in patients with acquired and congenital hypothyroidism and myxedema, being a common sign of congenital hypothyroidism with an approximate prevalence of 12-25% at the time of diagnosis. Macroglossia is a predominant oral finding in subjects with transient neonatal diabetes mellitus (~44%), acromegaly (54-69%) and amyloidosis (10-25%), particularly AL amyloidosis (20-40%) whereas is considered a hallmark of the disease. Secondary to macroglossia various disturbances may occur, such as difficulty in speech or eating, orthodontic anomalies or even more serious conditions including upper airway obstruction or obstructive sleep apnea. Until now, no comprehensive review has been conducted focusing on macroglossia in endocrine and metabolic disorders. The objective of this review is to summarize literature on the etiology and epidemiology of macroglossia in major endocrine and metabolic disorders. It highlights key aspects such as pathophysiology, clinical presentation, diagnostic evaluation, management and prognosis of macroglossia in the context of endocrine and metabolic disorders.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855969","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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Minerva endocrinology
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