Thyroid Diseases

甲状腺疾病
  • 文章类型: Journal Article
    甲状腺功能障碍显著影响青少年的健康和发育。然而,缺乏对其在美国青少年中的患病率和特征的全面研究。
    我们使用2001-2002年和2007-2012年国家健康和营养调查(NHANES)周期的数据,调查了12-18岁美国青少年甲状腺功能障碍的患病率。使用血清促甲状腺激素(TSH)和游离甲状腺素(fT4)测量来评估甲状腺功能障碍。我们分析了人口统计学亚组的患病率,并确定了相关的危险因素。
    该研究包括2,182名参与者,估计有1297万青少年。该组的加权平均年龄为15.1±0.06岁,男性占51.4%。亚临床甲状腺功能亢进是最常见的甲状腺功能障碍,影响了4.4%的人口。从2001-2002年到2011-2012年,亚临床甲状腺功能亢进症保持在4.99%与在整个队列中5.13%。分别在0.41和1.03%的青少年中发现亚临床和明显的甲状腺功能减退症,明显的甲状腺功能亢进很少见(0.04%)。总体人群中甲状腺过氧化物酶抗体(TPOAb)和甲状腺球蛋白抗体(TgAb)阳性率分别为5.8%和9.8%,分别。TgAb阳性是甲状腺功能减退症的危险因素,虽然年龄较大,女性和黑人是甲状腺功能亢进的危险因素.女性青少年和年龄较大的青少年更有可能对TPOAb和TgAb呈阳性,而黑人和墨西哥裔美国人的TPOAb和TgAb阳性风险较低。
    亚临床甲状腺功能亢进症是甲状腺功能障碍的最常见形式,从2001-2002年到2011-2012年,其患病率保持稳定。不同年龄人群甲状腺功能亢进患病率和抗体阳性率差异显著,性别和种族/族裔群体。
    UNASSIGNED: Thyroid dysfunction significantly affects the health and development of adolescents. However, comprehensive studies on its prevalence and characteristics in US adolescents are lacking.
    UNASSIGNED: We investigated the prevalence of thyroid dysfunction in US adolescents aged 12-18 years using data from the National Health and Nutrition Examination Survey (NHANES) 2001-2002 and 2007-2012 cycles. Thyroid dysfunction was assessed using serum thyroid-stimulating hormone (TSH) and free thyroxine (fT4) measurements. We analyzed the prevalence across demographic subgroups and identified associated risk factors.
    UNASSIGNED: The study included 2,182 participants, representing an estimated 12.97 million adolescents. The group had a weighted mean age of 15.1 ± 0.06 years, with males constituting 51.4%. Subclinical hyperthyroidism emerged as the most prevalent thyroid dysfunction, affecting 4.4% of the population. From 2001-2002 to 2011-2012, subclinical hyperthyroidism remained consistent at 4.99% vs. 5.13% in the overall cohort. Subclinical and overt hypothyroidism was found in 0.41 and 1.03% of adolescents respectively, and overt hyperthyroidism was rare (0.04%). The prevalence of thyroid peroxidase antibody (TPOAb) and thyroglobulin antibody (TgAb) positivity in the overall population were 5.8 and 9.8%, respectively. Positivity for TgAb was risk factors for hypothyroidism, while older age, female and Black Americans were risk factors for hyperthyroidism. Female adolescents and adolescents with an older age were more likely to be positive for TPOAb and TgAb, while Black and Mexican Americans had a lower risk of TPOAb and TgAb positivity.
    UNASSIGNED: Subclinical hyperthyroidism was the most common form of thyroid dysfunction, and its prevalence remained stable from 2001-2002 to 2011-2012. Notable disparities in the prevalence of hyperthyroidism and antibody positivity were observed among different age, sex and racial/ethnic groups.
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  • 文章类型: Journal Article
    甲状腺调节大多数生理过程。环境因素,包括气候变化,污染,营养变化,接触化学物质,已被公认为影响甲状腺功能和健康。甲状腺疾病和癌症在过去十年有所增加,后者每年增长1.1%,这表明环境污染物必须发挥作用。这篇叙述性综述探讨了环境因素与甲状腺解剖和功能之间关系的最新知识,报告最近的数据,机制,和环境因素作用的差距。全球变暖改变甲状腺功能,生活在碘贫乏地区和火山地区都可能对甲状腺功能构成威胁,并且由于碘摄入量低以及重金属和氡的暴露,可能会导致癌症。水和土壤中硝酸盐和亚硝酸盐浓度高的地区也会对甲状腺功能产生负面影响。空气污染,特别是室外空气中的颗粒物,会使甲状腺功能恶化,并可能致癌。环境暴露于内分泌干扰化学物质可以在许多方面改变甲状腺功能,因为一些化学物质可以模拟和/或破坏甲状腺激素的合成,释放,以及对目标组织的作用,例如双酚,邻苯二甲酸酯,高氯酸盐,以及全氟烷基和多氟烷基物质。在讨论饮食和营养时,最近有证据表明微生物组相关的变化,动物脂肪消耗的增加与甲状腺自身抗体的产生增加有关。有一些证据表明微塑料的负面影响。最后,传染病可以显著影响甲状腺功能;最近,从SARS-CoV-2大流行中吸取了教训。了解环境因素和污染物如何影响甲状腺功能对于制定预防策略和政策以保证新一代的适当发育和健康代谢以及预防成人和老年人的甲状腺疾病和癌症至关重要。然而,在理解上有许多差距,需要进一步研究。
    The thyroid gland regulates most of the physiological processes. Environmental factors, including climate change, pollution, nutritional changes, and exposure to chemicals, have been recognized to impact thyroid function and health. Thyroid disorders and cancer have increased in the last decade, the latter increasing by 1.1% annually, suggesting that environmental contaminants must play a role. This narrative review explores current knowledge on the relationships among environmental factors and thyroid gland anatomy and function, reporting recent data, mechanisms, and gaps through which environmental factors act. Global warming changes thyroid function, and living in both iodine-poor areas and volcanic regions can represent a threat to thyroid function and can favor cancers because of low iodine intake and exposure to heavy metals and radon. Areas with high nitrate and nitrite concentrations in water and soil also negatively affect thyroid function. Air pollution, particularly particulate matter in outdoor air, can worsen thyroid function and can be carcinogenic. Environmental exposure to endocrine-disrupting chemicals can alter thyroid function in many ways, as some chemicals can mimic and/or disrupt thyroid hormone synthesis, release, and action on target tissues, such as bisphenols, phthalates, perchlorate, and per- and poly-fluoroalkyl substances. When discussing diet and nutrition, there is recent evidence of microbiome-associated changes, and an elevated consumption of animal fat would be associated with an increased production of thyroid autoantibodies. There is some evidence of negative effects of microplastics. Finally, infectious diseases can significantly affect thyroid function; recently, lessons have been learned from the SARS-CoV-2 pandemic. Understanding how environmental factors and contaminants influence thyroid function is crucial for developing preventive strategies and policies to guarantee appropriate development and healthy metabolism in the new generations and for preventing thyroid disease and cancer in adults and the elderly. However, there are many gaps in understanding that warrant further research.
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  • 文章类型: Editorial
    在这篇社论中,我们评论了Pavlidis等人的文章,发表在最近一期的《世界肿瘤学杂志》上。我们关注的是最近在治疗间变性甲状腺癌方面的贡献,强调手术和放疗作为一线治疗的重要性,并引入化疗以外的新的全身疗法,专注于分子改变,诊断的重要步骤,并包括在临床指南中选择理想的治疗方法。与其他肿瘤相比,免疫疗法,仍在开始对这种病理学的研究,并取得了令人鼓舞的结果。因此,病理的多模式管理以及新药似乎是增加这种肿瘤生存率的合理步骤。
    In this editorial we comment on the article by Pavlidis et al, published in the recent issue of the World Journal of Oncology. We focus on the recent contributions in the management of anaplastic thyroid carcinoma, highlighting the importance of surgery and radiotherapy as first line therapies in its management and the introduction of new systemic therapies beyond chemotherapy, focused on molecular alterations, an essential step in the diagnosis and included in clinical guidelines for the selection of the ideal treatment. In contrast to other neoplasms, immunotherapy, is still beginning in studies of this pathology with encouraging results. Therefore, multimodal management of the pathology together with new drugs seems to be the logical step to increase the survival of this neoplasm.
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  • 文章类型: Editorial
    甲状腺癌是一种复杂的疾病,有几种类型,最常见的是分化良好和未分化。后者,“未分化癌”,也称为间变性甲状腺癌(ATC),是一种高度侵袭性的恶性肿瘤,占所有甲状腺癌的0.2%以下,预后不良,中位生存期为5个月。BRAF基因突变是与这种类型的甲状腺癌相关的最常见的分子因素。靶向生物制剂的最新进展,免疫疗法,干细胞疗法,纳米技术,达布拉非尼/曲美替尼联合治疗,免疫检查点抑制剂(ICI)和人工智能提供了新的治疗选择。达拉非尼和曲美替尼的联合治疗是目前BRAF-V600E基因突变患者的标准治疗方法。此外,达布拉非尼/曲美替尼联合治疗,单独使用或与靶向疗法结合使用的ICI为改善这种致命疾病的预后带来了一些希望。年龄更小,早期肿瘤分期和放疗都是预后改善的预后因素.最终,治疗方案应根据监测和流行病学数据针对个体患者量身定制,多学科方法至关重要。
    Thyroid carcinoma is a complex disease with several types, the most common being well-differentiated and undifferentiated. The latter, \"undifferentiated carcinoma\", also known as anaplastic thyroid carcinoma (ATC), is a highly aggressive malignant tumor accounting for less than 0.2% of all thyroid carcinomas and carries a poor prognosis with a median survival of 5 months. BRAF gene mutations are the most common molecular factor associated with this type of thyroid carcinoma. Recent advances in targeted biological agents, immunotherapy, stem cell therapy, nanotechnology, the dabrafenib/trametinib combination therapy, immune checkpoint inhibitors (ICI) and artificial intelligence offer novel treatment options. The combination therapy of dabrafenib and trametinib is the current standard treatment for patients with BRAF-V600E gene mutations. Besides, the dabrafenib/trametinib combination therapy, ICI, used alone or in combination with targeted therapies have raised some hopes for improving the prognosis of this deadly disease. Younger age, earlier tumor stage and radiotherapy are all prognostic factors for improved outcomes. Ultimately, therapeutic regimens should be tailored to the individual patient based on surveillance and epidemiological data, and a multidisciplinary approach is essential.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    甲状腺切除术相对安全,通常可以作为微创手术进行。尽管它们可能与学习曲线有关,术中附件如能量装置的周到使用,喉返神经监测,和甲状旁腺自发荧光有可能在甲状腺手术的安全性和效率方面取得递增的改善.也许许多这些附件可能是最大的好处,当常规使用经验较少的外科医生或有选择地在高风险的手术,尽管它们在实践中的采用率总体上继续增加。
    Thyroidectomy is relatively safe and often can be done as a minimally invasive procedure. Although they may be associated with a learning curve, thoughtful use of intraoperative adjuncts such as energy devices, recurrent laryngeal nerve monitoring, and parathyroid autofluorescence have the potential to make incremental improvements in the safety and efficiency of thyroid surgery. Perhaps many of these adjuncts may be of greatest benefit when used routinely by less experienced surgeons or selectively in higher-risk operations, although their adoption in practice continues to increase overall.
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  • 文章类型: Journal Article
    甲状腺功能异常(TDH)是先天性甲状腺功能低下(CH)病例的15%-25%。这种常见的遗传性内分泌疾病的致病变异在地理上有所不同。解开TDH的遗传基础对于遗传咨询和精确的治疗策略至关重要。本研究旨在使用全外显子组测序(WES)鉴定台湾南部与TDH相关的遗传变异。我们纳入了2011年至2022年在三级医疗中心通过新生儿筛查诊断的CH患者。根据双侧甲状腺结构的影像学证据和3岁以上连续用药的要求确定永久性TDH。从血液中提取的基因组DNA用于外显子组文库构建,和致病性变异使用内部算法检测。在876名CH患者中,121人被列为永久性的,47(40%)确认为TDH。对45名患者进行了WES,在32例患者中发现了致病变异(71.1%),包括DUOX2(15例),TG(8例),TSHR(7例),TPO(5例),和DUOXA2(1例)。复发变体包括DUOX2c.3329G>A,TSHRc.1349G>A,TGc.1348delT,和TPOc.2268dupT。我们基于基因型确定了四个新的变异,包括TSHRc.113C>T,TSHRc.1349G>C,TGc.2461delA,TGc.2459T>A.这项研究强调了WES在为TDH提供明确的分子诊断方面的功效。分子诊断有助于遗传咨询,制定治疗方案,并制定管理策略。未来的研究整合更大的种群群对于进一步阐明TDH的遗传格局至关重要。
    Thyroid dyshormonogenesis (TDH) is responsible for 15%-25% of congenital hypothyroidism (CH) cases. Pathogenetic variants of this common inherited endocrine disorders vary geographically. Unraveling the genetic underpinnings of TDH is essential for genetic counseling and precise therapeutic strategies. This study aims to identify genetic variants associated with TDH in Southern Taiwan using whole exome sequencing (WES). We included CH patients diagnosed through newborn screening at a tertiary medical center from 2011 to 2022. Permanent TDH was determined based on imaging evidence of bilateral thyroid structure and the requirement for continuous medication beyond 3 years of age. Genomic DNA extracted from blood was used for exome library construction, and pathogenic variants were detected using an in-house algorithm. Of the 876 CH patients reviewed, 121 were classified as permanent, with 47 (40%) confirmed as TDH. WES was conducted for 45 patients, and causative variants were identified in 32 patients (71.1%), including DUOX2 (15 cases), TG (8 cases), TSHR (7 cases), TPO (5 cases), and DUOXA2 (1 case). Recurrent variants included DUOX2 c.3329G>A, TSHR c.1349G>A, TG c.1348delT, and TPO c.2268dupT. We identified four novel variants based on genotype, including TSHR c.1135C>T, TSHR c.1349G>C, TG c.2461delA, and TG c.2459T>A. This study underscores the efficacy of WES in providing definitive molecular diagnoses for TDH. Molecular diagnoses are instrumental in genetic counseling, formulating treatment, and developing management strategies. Future research integrating larger population cohorts is vital to further elucidate the genetic landscape of TDH.
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  • 文章类型: Journal Article
    在对许多人类疾病的了解方面取得了重大进展,尤其是癌症,这有助于改善和提高生存率。人类基因组计划和癌症基因组图谱计划带来了一个新时代,在分子水平上对遗传疾病的理解,这随后促进了精准医学的选择。精准医学有助于在个人层面制定治疗决策,例如,在晚期疾病的手术治疗或靶向治疗方面。尽管基因引导精准医学的进步越来越大,这并没有转化为患者的摄取增加。造成这种情况的原因可能是临床医生之间潜在的知识差距;由于基因检测缺乏的原因,例如文化,宗教或个人信仰;以及财务影响,如缺乏保险公司的支持。在这次审查中,我们看看目前的遗传筛查常见的遗传内分泌疾病影响甲状腺的情况,新加坡的甲状旁腺和肾上腺,以及与之相关的含义。
    Significant progress has been made in the understand-ing of many human diseases, especially cancers, which has contributed to improved and increased survival. The Human Genome Project and The Cancer Genome Atlas project brought about a new era, with an understanding of inherited diseases at a molecular level, which subsequently facilitated the option of precision medicine. Precision medicine has helped tailor treatment decisions at an individual level, for instance in terms of surgical treatments or targeted therapies in advanced diseases. Despite the increasing advances in genetic-lead precision medicine, this has not translated into increasing uptake among patients. Reasons for this may be potential knowledge gaps among clinicians; on reasons for poor uptake of genetic testing such as for cultural, religious or personal beliefs; and on financial implications such as lack of support from insurance companies. In this review, we look at the current scenario of genetic screening for common inherited endocrine conditions affecting the thyroid, parathyroid and adrenal glands in Singapore, and the implications associated with it.
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  • 文章类型: Journal Article
    先前的观察性研究显示,补充维生素治疗甲状腺疾病的结果相互矛盾。维生素与甲状腺疾病之间的因果关系尚不清楚。因此,我们进行了一项双样本双向孟德尔随机化(MR)研究,以探讨循环维生素水平与甲状腺疾病的相关性.
    我们使用全基因组关联研究(GWAS)数据进行了双向MR分析。循环维生素水平的遗传工具变量包括维生素A,B9,B12,C,D,E,甲状腺疾病的遗传工具变量包括自身免疫性甲状腺功能亢进,自身免疫性甲状腺功能减退症,甲状腺结节(TNs),甲状腺癌(TC)。逆方差加权乘法随机效应(IVW-RE)主要用于MR分析,使用加权中位数(WM)和MREgger作为辅助方法评估循环维生素水平与甲状腺疾病之间的关系.敏感性和多能性通过Cochran'sQ检验进行评估,MR-PRESSO,径向MR,MR-Egger回归和留一法分析。
    MR阳性证据表明循环维生素C水平是自身免疫性甲状腺功能减退症的保护因素(ORIVW-RE=0.69,95CI:0.58-0.83,p=1.05E-04)。反向MR证据表明,自身免疫性甲状腺功能亢进的遗传易感性与循环维生素A水平降低有关(ORIVW-RE=0.97,95%CI:0.95-1.00,p=4.38E-02),TNs的遗传易感性与循环维生素D水平升高相关(ORIVW-RE=1.02,95%CI:1.00-1.03,p=6.86E-03).在其他循环维生素水平与甲状腺疾病之间未检测到因果关系和反向因果关系。
    我们的研究结果提供了遗传证据,支持循环维生素水平与甲状腺疾病之间的双向因果关系。这些发现为临床应用维生素防治甲状腺疾病提供了信息。
    UNASSIGNED: Previous observational studies have shown conflicting results of vitamins supplementation for thyroid diseases. The causal relationships between vitamins and thyroid diseases are unclear. Therefore, we conducted a two-sample bidirectional Mendelian randomization (MR) study to explore association of circulating vitamin levels with thyroid diseases.
    UNASSIGNED: We performed a bidirectional MR analysis using genome-wide association study (GWAS) data. Genetic tool variables for circulating vitamin levels include vitamins A, B9, B12, C, D, and E, Genetic tool variables of thyroid diseases include autoimmune hyperthyroidism, autoimmune hypothyroidism, thyroid nodules (TNs), and Thyroid cancer (TC). Inverse-variance weighted multiplicative random effects (IVW-RE) was mainly used for MR Analysis, weighted median (WM) and MR Egger were used as supplementary methods to evaluate the relationships between circulating vitamin levels and thyroid diseases. Sensitivity and pluripotency were evaluated by Cochran\'s Q test, MR-PRESSO, Radial MR, MR-Egger regression and leave-one-out analysis.
    UNASSIGNED: Positive MR evidence suggested that circulating vitamin C level is a protective factor in autoimmune hypothyroidism (ORIVW-RE=0.69, 95%CI: 0.58-0.83, p = 1.05E-04). Reverse MR Evidence showed that genetic susceptibility to autoimmune hyperthyroidism is associated with reduced level of circulating vitamin A(ORIVW-RE = 0.97, 95% CI: 0.95-1.00, p = 4.38E-02), genetic susceptibility of TNs was associated with an increased level of circulating vitamin D (ORIVW-RE = 1.02, 95% CI: 1.00-1.03, p = 6.86E-03). No causal and reverse causal relationship was detected between other circulating vitamin levels and thyroid diseases.
    UNASSIGNED: Our findings provide genetic evidence supporting a bi-directional causal relationship between circulating vitamin levels and thyroid diseases. These findings provide information for the clinical application of vitamins prevention and treatment of thyroid diseases.
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  • 文章类型: Journal Article
    关于颈围(NC)与甲状腺状态之间的关系的报道相互矛盾。这项研究旨在比较有或没有甲状腺疾病的韩国成年人的NC。
    对参加2019-2020年韩国国家健康和营养检查调查的8,198名受试者(年龄40-80岁)的数据进行分析。由经过培训的工作人员用卷尺测量NC,精度为±0.1cm。使用多种逻辑模型通过NC水平评估男性以及绝经前和绝经后女性的甲状腺疾病患病率。
    大约5%的受试者有甲状腺疾病史。与男性和绝经后女性相比,绝经前NC较大的女性甲状腺疾病患病率明显较高(P值=0.025).
    在绝经前的韩国女性中,大的NC与甲状腺疾病显著相关。
    UNASSIGNED: There were contradictory reports about the relationship between neck circumference (NC) and thyroid status. This study aimed to compare the NCs of Korean adults with or without thyroid disease.
    UNASSIGNED: The data of 8,198 subjects (aged 40-80 yr) that participated in the 2019-2020 Korean National Health and Nutrition Examination Survey were subjected to analysis. NCs were measured by trained staff to an accuracy of ±0.1 cm with a tape measure. Multiple logistic models were used to assess the prevalence of thyroid disease by NC level among men and pre- and postmenopausal women.
    UNASSIGNED: Approximately 5% of subjects had a history of thyroid disease. In contrast to men and postmenopausal women, premenopausal women with a larger NC had a significantly higher prevalence of thyroid disease (P-value=0.025).
    UNASSIGNED: A large NC is significantly associated with thyroid disease among premenopausal Korean women.
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