European Thyroid Journal最新文献

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Sex-Specific Differences in Outcomes Following Thyroidectomy: A Population-Based Cohort Study. 甲状腺切除术后结果的性别差异:基于人群的队列研究。
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2020-09-30 DOI: 10.1159/000510618
Lara Gut, Selina Bernet, Monika Huembelin, Magdalena Mueller, Ciril Baechli, Daniel Koch, Christian Nebiker, Philipp Schuetz, Beat Mueller, Emanuel Christ, Fahim Ebrahimi, Alexander Kutz
{"title":"Sex-Specific Differences in Outcomes Following Thyroidectomy: A Population-Based Cohort Study.","authors":"Lara Gut, Selina Bernet, Monika Huembelin, Magdalena Mueller, Ciril Baechli, Daniel Koch, Christian Nebiker, Philipp Schuetz, Beat Mueller, Emanuel Christ, Fahim Ebrahimi, Alexander Kutz","doi":"10.1159/000510618","DOIUrl":"10.1159/000510618","url":null,"abstract":"<p><strong>Introduction: </strong>Numbers of thyroidectomies and awareness of postoperative quality measures have both increased. Potential sex-specific variations in clinical outcomes of patients undergoing thyroidectomy are controversial.</p><p><strong>Objective: </strong>The aim of this study was to investigate sex-specific differences in outcomes following thyroidectomy.</p><p><strong>Methods: </strong>This is a population-based cohort study of all adult patients undergoing either hemi- or total thyroidectomy in Switzerland from 2011 to 2015. The primary outcome was all-cause 30-day readmission rate. The main secondary outcomes were intensive care unit (ICU) admission, surgical re-intervention, in-hospital mortality, length of hospital stay (LOS), postoperative calcium disorder, vocal cord paresis, and hematoma.</p><p><strong>Results: </strong>Of 16,776 patients undergoing thyroidectomy, the majority of patients undergoing thyroidectomy were female (79%), with a median age of 52 (IQR 42-64) years. Within 30 days after the surgery, male patients had significantly higher rates of hospital readmission (adjusted risk ratio [RR] 1.38; 95% confidence interval [95% CI] 1.11-1.72, <i>p</i> = 0.008) and higher risks for postoperative ICU admission (RR 1.25; 95% CI, 1.09-1.44, <i>p</i> = 0.003) than female patients. There were no significant differences among sexes in the LOS, rates of surgical re-interventions, or in-hospital mortality. While postoperative calcium disorders due to hypoparathyroidism were less prevalent among male patients (RR 0.63; 95% CI, 0.54-0.72, <i>p</i> < 0.001), a 2-fold higher incidence rate of postoperative hematoma was observed (RR 1.93, 95% CI, 1.51-2.46, <i>p</i> < 0.001).</p><p><strong>Conclusions: </strong>Male patients undergoing thyroidectomy have higher 30-day hospital readmission and ICU admission rates. Following surgery, male patients revealed higher rates of neck hematoma, while hypocalcemia was more frequent among female patients.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"476-485"},"PeriodicalIF":3.5,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647072/pdf/etj-0010-0476.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39847947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New Reference Values for Thyroid Volume and a Comprehensive Assessment for Influencing Factors in Chinese Adults with Iodine Sufficiency. 中国成人甲状腺容量新参考值及碘充足影响因素综合评价。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2021-07-22 DOI: 10.1159/000513494
Wenxing Guo, Long Tan, Shuyao Dong, Ya Jin, Mei Zhu, Hongyan Wei, Yanting Chen, Lili Fan, Cong Du, Wanqi Zhang
{"title":"New Reference Values for Thyroid Volume and a Comprehensive Assessment for Influencing Factors in Chinese Adults with Iodine Sufficiency.","authors":"Wenxing Guo,&nbsp;Long Tan,&nbsp;Shuyao Dong,&nbsp;Ya Jin,&nbsp;Mei Zhu,&nbsp;Hongyan Wei,&nbsp;Yanting Chen,&nbsp;Lili Fan,&nbsp;Cong Du,&nbsp;Wanqi Zhang","doi":"10.1159/000513494","DOIUrl":"https://doi.org/10.1159/000513494","url":null,"abstract":"<p><strong>Objectives: </strong>The reference values for thyroid volume (Tvol) determined by ultrasound require supportive data of normal Tvol from local iodine-sufficient populations. This study aimed to explore new reference values for Tvol in Chinese adults and comprehensively evaluate the factors associated with enlarged Tvol.</p><p><strong>Methods: </strong>A cross-sectional study was conducted in Tianjin, China. Tvol was measured by ultrasound in adults with long-term iodine sufficiency. Blood and urine samples were collected to evaluate biochemical indexes, thyroid function, and iodine status.</p><p><strong>Results: </strong>A total of 1,991 adults from the urban and suburban areas were analysed. The trend of Tvol increasing with age was observed in men under age 40 years and in women under age 52 years. In the quantile regression analyses, we found that body surface area (BSA) (β = 7.22, 95% CI: 5.33, 9.12), thyroid-stimulating hormone (TSH) (β = -1.48, 95% CI: -2.39, -0.57), thyroid nodules (TNs) (β = 6.70, 95% CI: 2.19, 11.22), and metabolic syndrome (MetS) (β = 1.40, 95% CI: 0.63, 2.17) had a strong effect on Tvol at higher percentiles in males. The dominant factors influencing Tvol were BSA (β = 9.64, 95% CI: 2.66, 16.61), TSH (β = -0.78, 95% CI: -1.16, -0.39), and TNs (β = 1.11, 95% CI: 0.43, 1.79) in females. The largest reference values for Tvol based on BSA were 20.18 (17.79, 24.32) mL in males and 15.31 (14.05, 16.70) mL in females.</p><p><strong>Conclusions: </strong>Quantile regression analyses showed that a high BSA index, a decreased TSH level, and the prevalence of TNs were essential factors associated with the enlargement of the thyroid gland. Our findings reported the new reference values for Tvol determined by ultrasound based on gender and BSA in Chinese adults.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"447-454"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513494","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39877205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Cardiac Metastasis from Medullary Thyroid Cancers with Long-Term Survival under Vandetanib. 万德替尼治疗长期生存的甲状腺髓样癌的心脏转移。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2021-08-25 DOI: 10.1159/000517716
Camille Buffet, Sophie Leboulleux, Françoise Kraeber-Bodéré, Caroline Bodet-Milin, Laure Cabanes, Anthony Dohan, Pascal Leprince, Martin Schlumberger, Olivier Huillard, Lionel Groussin
{"title":"Cardiac Metastasis from Medullary Thyroid Cancers with Long-Term Survival under Vandetanib.","authors":"Camille Buffet,&nbsp;Sophie Leboulleux,&nbsp;Françoise Kraeber-Bodéré,&nbsp;Caroline Bodet-Milin,&nbsp;Laure Cabanes,&nbsp;Anthony Dohan,&nbsp;Pascal Leprince,&nbsp;Martin Schlumberger,&nbsp;Olivier Huillard,&nbsp;Lionel Groussin","doi":"10.1159/000517716","DOIUrl":"https://doi.org/10.1159/000517716","url":null,"abstract":"<p><strong>Background: </strong>Cardiac metastases from thyroid cancers are uncommon with a poor prognosis. There is a lack of long-term follow-up studies.</p><p><strong>Cases: </strong>We report 2 cases of cardiac metastasis from medullary thyroid cancer (MTC). Both patients presented limited metastatic disease apart from a cardiac metastasis. The initial diagnosis was challenging and was facilitated by functional imaging with an immuno-PET-CT using an anti-CEA bispecific antibody and a <sup>68</sup>Ga-labeled peptide. Both patients were treated with the multitarget kinase inhibitor vandetanib with prolonged stability. The first patient was alive at the last follow-up, 14 years after the diagnosis of cardiac metastasis. The second patient required surgical excision of the cardiac mass because of disease progression under vandetanib.</p><p><strong>Conclusion: </strong>These cases illustrate long-term survival and effectiveness of clinical management of 2 patients who developed cardiac metastases from MTC, in the current era of personalized medicine with targeted therapy.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"517-522"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647102/pdf/etj-0010-0517.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39877211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Case Report: A Rare Association of Diffuse Thyroid Lipomatosis with Amyloid Deposition. 病例报告:弥漫性甲状腺脂肪病与淀粉样蛋白沉积的罕见关联。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2021-09-07 DOI: 10.1159/000518444
Daniela Rodrigues Cavaco, Ana Alves Rafael, Rafael Cabrera, Helena Vilar, Valeriano Leite
{"title":"Case Report: A Rare Association of Diffuse Thyroid Lipomatosis with Amyloid Deposition.","authors":"Daniela Rodrigues Cavaco,&nbsp;Ana Alves Rafael,&nbsp;Rafael Cabrera,&nbsp;Helena Vilar,&nbsp;Valeriano Leite","doi":"10.1159/000518444","DOIUrl":"https://doi.org/10.1159/000518444","url":null,"abstract":"<p><p>Diffuse thyroid lipomatosis is a rare histopathological condition of unknown etiology, characterized by diffuse fatty infiltration of the thyroid stroma, which can result in diffuse goiter with compressive symptoms. We report a case of a 46-year-old man with 1-year history of progressive goiter enlargement with compressive symptoms. Imaging studies revealed multiple coalescent nodules. The patient underwent surgery, and the microscopic appearance revealed a diffuse infiltration of thyroid stroma by mature adipose tissue with associated amyloid deposition. A final diagnosis of diffuse lipomatosis of the thyroid gland was established. This patient represents one of the few reported cases of diffuse lipomatosis with coexisting deposition of amyloid protein of the thyroid gland and contributes to the better understanding of this extremely rare condition.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"528-532"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647057/pdf/etj-0010-0528.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39764766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Prevalence and Treatment Outcomes of Marine-Lenhart Syndrome in Japan. 日本海洋-伦哈特综合征的患病率和治疗效果。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2020-09-30 DOI: 10.1159/000510312
Hirosuke Danno, Eijun Nishihara, Kazuyoshi Kousaka, Tomohiko Nakamura, Toshihiko Kasahara, Takumi Kudo, Mitsuru Ito, Shuji Fukata, Mitsushige Nishikawa, Akira Miyauchi
{"title":"Prevalence and Treatment Outcomes of Marine-Lenhart Syndrome in Japan.","authors":"Hirosuke Danno,&nbsp;Eijun Nishihara,&nbsp;Kazuyoshi Kousaka,&nbsp;Tomohiko Nakamura,&nbsp;Toshihiko Kasahara,&nbsp;Takumi Kudo,&nbsp;Mitsuru Ito,&nbsp;Shuji Fukata,&nbsp;Mitsushige Nishikawa,&nbsp;Akira Miyauchi","doi":"10.1159/000510312","DOIUrl":"https://doi.org/10.1159/000510312","url":null,"abstract":"<p><strong>Introduction: </strong>Marine-Lenhart syndrome (MLS) is now understood to be a combination of Graves' disease and autonomously functioning thyroid nodule(s) (AFTNs). The prevalence of the syndrome and suitable treatments for those living in iodine-sufficient areas are uncertain.</p><p><strong>Objectives: </strong>We aimed to investigate the prevalence, treatment, and prognosis of MLS in Japan, an iodine-sufficient area.</p><p><strong>Methods: </strong>This study involved patients who visited our hospital between February 2005 and August 2019. Among patients with both thyrotoxicosis and thyroid nodule(s) larger than 10 mm, MLS and isolated AFTNs were diagnosed based on serum thyroid-stimulating hormone receptor antibody levels and scintigraphy using radioiodine or technetium-99m and thyroid uptake.</p><p><strong>Results: </strong>Twenty-two patients were found to have MLS, compared to 372 with isolated AFTNs and 8,343 with Graves' disease, during the period. Therefore, the rate of MLS cases was 0.26% among all patients with Graves' disease (22/8,343). Treatments and outcomes were assessed for cases of MLS (<i>n</i> = 18) and isolated AFTNs (<i>n</i> = 269). Antithyroid drugs (ATDs) were withdrawn in 27.8% of cases in the MLS group and 10.3% in the isolated AFTN group. There was no significant difference in the clinical outcome after ATD withdrawal between the 2 groups. However, the rate of hypothyroidism after radioactive iodine (RAI) administration was significantly higher in the MLS group than in the isolated AFTN group (42.9 vs. 9.0%, <i>p</i> = 0.005) despite similar doses of RAI.</p><p><strong>Conclusions: </strong>The prevalence of MLS among patients with Graves' disease was 0.26% in Japan. RAI therapy induces hypothyroidism more frequently than in those with AFTNs probably because RAI is taken up in the surrounding Graves' tissues.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"461-467"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000510312","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39847946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
3D-Printed Template-Guided 125I Seed Brachytherapy: A Salvage Approach for Locoregional Refractory Recurrence of Papillary Thyroid Cancer. 3d打印模板引导的125I粒子近距离放射治疗:局部难治性甲状腺乳头状癌复发的挽救方法。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2021-10-04 DOI: 10.1159/000519572
Zhen Gao, Hongtao Zhang, Lijuan Zhang, Huimin Yu, Xuemin Di, Zeyang Wang, Zezhou Liu, Aixia Sui, Juan Wang, Gaofeng Shi
{"title":"3D-Printed Template-Guided <sup>125</sup>I Seed Brachytherapy: A Salvage Approach for Locoregional Refractory Recurrence of Papillary Thyroid Cancer.","authors":"Zhen Gao,&nbsp;Hongtao Zhang,&nbsp;Lijuan Zhang,&nbsp;Huimin Yu,&nbsp;Xuemin Di,&nbsp;Zeyang Wang,&nbsp;Zezhou Liu,&nbsp;Aixia Sui,&nbsp;Juan Wang,&nbsp;Gaofeng Shi","doi":"10.1159/000519572","DOIUrl":"https://doi.org/10.1159/000519572","url":null,"abstract":"<p><strong>Background: </strong>Papillary thyroid carcinoma (PTC) is typically treated with surgical resection, even in recurrent cases. However, some cases of recurrent PTC are refractory to the conventionally used locoregional radiotherapy and resection methods. <sup>125</sup>I seed permanent brachytherapy has emerged as a promising alternative for such PTCs, but no effective brachytherapy protocol has been reported for tumors with a huge volume, liquefaction, necrosis, and skin invasion.</p><p><strong>Case presentation: </strong>A 47-year-old man presented with recurrence 8 years after 2 thyroidectomy procedures for PTC and recurrent PTC. The tumor measured 6 × 7 × 8 cm<sup>3</sup> and exhibited liquefaction, necrosis, and skin invasion. The patient was treated at our hospital from December 2017 to November 2018. He received one round of <sup>125</sup>I seed temporary brachytherapy and 4 rounds of <sup>125</sup>I seed permanent implantation. The activity of the seeds was 0.3-3.0 mCi, and the total dose delivered to the tumor was 145 Gy. The recurrent tumor was successfully removed by <sup>125</sup>I seed brachytherapy guided with a 3D-printed template and ultrasound and CT scanning. The refractory tumor healed uneventfully after <sup>125</sup>I seed brachytherapy without recurrence over the 25-month follow-up.</p><p><strong>Conclusions: </strong>To the best of our knowledge, this is the first reported case of a large thyroid carcinoma that was effectively treated by 3D-printed template-guided <sup>125</sup>I seed brachytherapy.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"504-510"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647112/pdf/etj-0010-0504.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39847948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Levothyroxine Administration during Ramadan: A Prospective Randomized Controlled Trial. 斋月期间给药左甲状腺素:一项前瞻性随机对照试验。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2021-08-10 DOI: 10.1159/000517706
Samer El-Kaissi, Laila AbdelWareth, Ruba Dajani, Terrence J Lee-St John, Sherry Ann Santarina, Fiona Makia, Malak AlTakruri, AbedElRahman Kaskas, Yahya Ahmed
{"title":"Levothyroxine Administration during Ramadan: A Prospective Randomized Controlled Trial.","authors":"Samer El-Kaissi,&nbsp;Laila AbdelWareth,&nbsp;Ruba Dajani,&nbsp;Terrence J Lee-St John,&nbsp;Sherry Ann Santarina,&nbsp;Fiona Makia,&nbsp;Malak AlTakruri,&nbsp;AbedElRahman Kaskas,&nbsp;Yahya Ahmed","doi":"10.1159/000517706","DOIUrl":"https://doi.org/10.1159/000517706","url":null,"abstract":"<p><strong>Background and aim: </strong>We have previously shown in a retrospective analysis that the plasma thyroid-stimulating hormone (TSH) rises significantly post-Ramadan in levothyroxine-treated hypothyroid patients, possibly as a result of lifestyle alterations and time restrictions during the nonfasting period from dusk until dawn. The aim of this study is to determine the best time to instruct patients to take levothyroxine during Ramadan so as to minimize changes in thyroid function tests during this period.</p><p><strong>Methods: </strong>In a randomized prospective design, hypothyroid patients taking levothyroxine were randomized to receive instructions to take levothyroxine at one of the following 3 times during Ramadan: (group 1) at dusk 30-min before Iftar meal, (group 2) 3 or more hours after Iftar meal, or (group 3) at dawn 30-min before Suhur meal. Thyroid function tests were performed within 3 months before Ramadan and within 6 weeks post-Ramadan. Data from patients with at least 1 blood test before or after Ramadan were analyzed using mixed-effects regression models.</p><p><strong>Results: </strong>Plasma TSH levels were available at one or more time points for 148 patients, group 1 (<i>n</i> = 50), group 2 (<i>n</i> = 46), and group 3 (<i>n</i> = 52). A statistically significant within-patient increase in plasma TSH was seen in patients at the 25th percentile pre-Ramadan in groups 2 and 3 (<i>p</i> values <0.001), but not in group 1. A statistically significant within-patient decrease in plasma TSH was found in patients at the 75th percentile in group 1 only. For patients at the 50th percentile pre-Ramadan, no statically significant within-patient changes were found, though descriptively, increases in plasma TSH were observed for groups 2 and 3, while a decrease was observed in group 1.</p><p><strong>Conclusions: </strong>Our data suggest that instructing patients to take levothyroxine at the time of breaking the fast 30 min before the Iftar meal minimizes unfavorable changes in plasma TSH post-Ramadan. In contrast, instructing patients to take levothyroxine 3 h post-Iftar or 30 min before Suhur led to a greater rise in post-Ramadan TSH.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"455-460"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647124/pdf/etj-0010-0455.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39877206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome. 游离甲状腺激素测量结果不一的临床后果:导致甲状腺激素抵抗综合征的 THRB 基因新型变异家庭的不寻常表现。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2021-10-22 DOI: 10.1159/000519748
Irene Campi, Maura Agostini, Federica Marelli, Tiziana de Filippis, Beatriz Romartinez-Alonso, Odelia Rajanayagam, Giuditta Rurale, Ilaria Gentile, Federica Spagnolo, Massimiliano Andreasi, Francesco Ferraù, Salvatore Cannavò, Laura Fugazzola, Krishna V Chatterjee, Luca Persani
{"title":"Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the <i>THRB</i> Gene Causing Resistance to Thyroid Hormone Syndrome.","authors":"Irene Campi, Maura Agostini, Federica Marelli, Tiziana de Filippis, Beatriz Romartinez-Alonso, Odelia Rajanayagam, Giuditta Rurale, Ilaria Gentile, Federica Spagnolo, Massimiliano Andreasi, Francesco Ferraù, Salvatore Cannavò, Laura Fugazzola, Krishna V Chatterjee, Luca Persani","doi":"10.1159/000519748","DOIUrl":"10.1159/000519748","url":null,"abstract":"<p><strong>Introduction: </strong>Resistance to thyroid hormone β (RTHβ) is an inherited syndrome caused by dominant negative variants in the <i>THRB</i> gene (NM_000461.5). The clinical picture of RTHβ is variable, and patients harboring the same variant may display different degrees of disease severity.</p><p><strong>Case presentation: </strong>A 30-year-old man presented with thyrotoxicosis and central hyperthyroidism and was found to have a novel variant in the exon 10 of <i>THRB</i> gene (c.C1282G, p.L428V), located within the third hot spot region of the C-terminal of the receptor. Surprisingly, the same variant was found in two other relatives with an apparent normal thyroid function at initial screening. After exclusion of a TSH-secreting adenoma and serum interference in the proband, and the finding that exogenous levothyroxine failed to suppress the TSH in the brother affected by nodular goiter, relatives' thyroid function tests (TFTs) were reassessed with additional analytical method revealing biochemical features consistent with RTHβ in all carriers of the p.L428V variant. Functional studies showed a slightly impaired in vitro transcriptional activity of p.L428V. Interestingly' the expression of the human p.L428V thyroid hormone receptor beta in the zebrafish embryo background generated a phenotype consistent with RTHβ.</p><p><strong>Conclusion: </strong>Variable results of TFTs on some immunoassays can be a cause of RTHβ diagnostic delay, but the genotype-phenotype correlation in this family and functional studies support p.L428V as a novel <i>THRB</i> variant expanding the spectrum of gene variants causing RTHβ. In vivo, rather than in vitro, functional assays may be required to demonstrate the dominant negative action of <i>THRB</i> variants.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"533-541"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647126/pdf/etj-0010-0533.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39764767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inherited Selenocysteine Transfer RNA Mutation: Clinical and Hormonal Evaluation of 2 Patients. 遗传性硒半胱氨酸转移RNA突变:2例患者的临床和激素评价。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2021-08-26 DOI: 10.1159/000518275
Aurore Geslot, Frédérique Savagner, Philippe Caron
{"title":"Inherited Selenocysteine Transfer RNA Mutation: Clinical and Hormonal Evaluation of 2 Patients.","authors":"Aurore Geslot,&nbsp;Frédérique Savagner,&nbsp;Philippe Caron","doi":"10.1159/000518275","DOIUrl":"https://doi.org/10.1159/000518275","url":null,"abstract":"<p><strong>Introduction: </strong>Iodothyronine deiodinases are selenoproteins with the amino acid selenocysteine (Sec) introduced into the position of a TGA stop codon by a complex machinery involving tRNA<sup>[Ser]Sec</sup> when a cis-acting Sec-insertion sequence element is present in the 3' end of the mRNA. Recently, a variant in the <i>TRU-TCA1-1</i> gene encoding for tRNA<sup>[Ser]Sec</sup> was reported, which resulted in reduced expression of stress-related selenoproteins. The proband presented with multisystem symptoms, euthyroid hyperthyroxinemia, and selenium deficiency. Here, we describe 2 new members of a family harboring the same tRNA<sup>[Ser]Sec</sup> variant.</p><p><strong>Case presentation: </strong>A 13-year-old patient was seen for Hashimoto's disease with high FT3 (4.6 pg/mL, normal range 2-4.2 pg/mL) and normal FT4 and TSH concentrations. He had no clinical complaints. During a 6-year clinical and hormonal follow-up, the index patient was not treated, FT3 decreased, FT4 increased, and serum TSH stayed in the normal range resulting in a euthyroid hyperthyroxinemia. Reverse T3 concentration was significantly increased at the last visit (19 years and 4 months). At the last evaluation, the total selenium level was low (91 μg/L, normal range 95-125). DNA sequencing identified a germinal homozygous variant (C65G) in the <i>TRU-TCA1-1</i> gene. During follow-up, no additional clinical symptom was observed in the absence of any treatment. The same germinal tRNA<sup>[Ser]Sec</sup> variant was identified at heterozygous state in his father, who had normal thyroid function tests except a moderately increased reverse T3 concentration, with increased total selenium (143 μg/L) level. In both patients, the expression of stress-related selenoprotein GPX3 was in the low-normal range (168 and 180 IU/L, respectively, normal range: 150-558 IU/L). We did not find any significant biological abnormalities evocative of other selenoprotein deficiencies.</p><p><strong>Discussion/conclusion: </strong>We report on 2 members of a family with a variant in the <i>TRU-TCA1-1</i> gene encoding for tRNA<sup>[Ser]Sec</sup>. Our study suggests that this tRNA<sup>[Ser]Sec</sup> variant is not exclusively causative of disruption in selenoprotein synthesis.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"542-547"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647050/pdf/etj-0010-0542.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39764768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Continuous, Large-Volume Hydrodissection to Protect Delicate Structures around the Thyroid throughout the Radiofrequency Ablation Procedure. 在整个射频消融过程中,持续的、大体积的水解剖以保护甲状腺周围的脆弱结构。
IF 4.7 2区 医学
European Thyroid Journal Pub Date : 2021-11-01 Epub Date: 2021-10-15 DOI: 10.1159/000519625
Yanping Ma, Tao Wu, Zhicheng Yao, Bowen Zheng, Lei Tan, Ge Tong, Yufan Lian, Jung Hwan Baek, Jie Ren
{"title":"Continuous, Large-Volume Hydrodissection to Protect Delicate Structures around the Thyroid throughout the Radiofrequency Ablation Procedure.","authors":"Yanping Ma,&nbsp;Tao Wu,&nbsp;Zhicheng Yao,&nbsp;Bowen Zheng,&nbsp;Lei Tan,&nbsp;Ge Tong,&nbsp;Yufan Lian,&nbsp;Jung Hwan Baek,&nbsp;Jie Ren","doi":"10.1159/000519625","DOIUrl":"https://doi.org/10.1159/000519625","url":null,"abstract":"<p><strong>Introduction: </strong>Small-volume hydrodissection liquid dissipates rapidly and confers only short-term protection during radiofrequency ablation (RFA) of benign thyroid nodules. The aim of this study was to establish a safe method for continuous, large-volume hydrodissection.</p><p><strong>Methods: </strong>A long needle was inserted and positioned outside the thyroid capsule; 5% glucose was injected to maintain a 3- to 5-mm continuous safety buffer. From October 2015 to July 2020, 166 patients underwent hydrodissection with different volumes, and ablation efficacy and complications associated with different liquid volumes (≤40 mL vs. >40 mL) were compared at 1-month postprocedure. Moreover, 20 mL liquid (equivalent to 250 mL in the human body) was injected around the thyroid of a rhesus monkey, after which CT scans were used to visualize the liquid's fate and verify its safety.</p><p><strong>Results: </strong>The 51 patients with 10-40 mL injections and 116 patients with larger injections (45-450 mL) showed similar complete ablation rates (88.46% vs. 90.44%, <i>p</i> = 0.582), comparable 6-month VRR (82.79% vs. 76.62%, <i>p</i> = 0.079), and complication incidences, although the latter group had larger nodules (9.11 mL vs. 13.79 mL, <i>p</i> = 0.003), more energy delivered (3.44 kcal vs. 6.04 kcal, <i>p</i> < 0.001), and longer operation times (51.37 min vs. 69.2 min, <i>p</i> < 0.001). In the animal experiment, the 20 mL of liquid diffused quickly (within 10 min) from the vicinity of the thyroid to the mediastinum and retropharyngeal space. It was observed in the kidneys at 10 min and disappeared from the neck and chest space by 24 h.</p><p><strong>Conclusions: </strong>Continuous, large-volume hydrodissection can protect the delicate structures around the thyroid throughout the RFA procedure and might be beneficial in large thyroid nodule ablation.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"10 6","pages":"495-503"},"PeriodicalIF":4.7,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647085/pdf/etj-0010-0495.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39877209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
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