Background and Objectives: Telomerase reverse transcriptase (TERT) promoter mutations are a poor prognostic factor in differentiated thyroid carcinoma (DTC). However, their prognostic value in anaplastic thyroid carcinoma (ATC) is unclear. Therefore, we investigated whether TERT promoter mutations also act as an independent poor prognostic factor in ATC. Materials and Methods: We reviewed the medical records of 41 patients with ATC who underwent the TERT promoter mutations test at Samsung Medical Center between November 1995 and December 2022. The aggressive treatment group was defined as patients who underwent surgery, external radiotherapy, and systemic therapy. Results: Among 41 patients, 15 (36.6%) showed TERT promoter mutations. There only differences in the clinicopathological characteristics between the TERT-mutant and wild-type groups were tumor size and coexistence of DTC. Median tumor size in the TERT-mutant group was 5.1 cm (3.0-11.0), which was significantly larger than that in the wild-type group (4.1 cm, 0.8-8.0, p=0.010). Nevertheless, the TERT-mutant group received relatively more aggressive treatment (53.3% vs. 19.2%, p=0.056), and the overall survival of the TERT-mutant group was longer than that of the wild-type group (9.4 months [0.4-51.5] vs. 7.1 months [0.4-49.5]), but its difference was not significant (p=0.458). In multiple regression analysis, distant metastasis was a significant prognostic factor, but TERT promoter mutation was not. Conclusion Unlike in DTC, TERT promoter mutations were not an independent poor prognostic factor in ATC.

Background and Objectives: Telomerase reverse transcriptase (TERT) promoter mutations are a poor prognostic factor in differentiated thyroid carcinoma (DTC). However, their prognostic value in anaplastic thyroid carcinoma (ATC) is unclear. Therefore, we investigated whether TERT promoter mutations also act as an independent poor prognostic factor in ATC. Materials and Methods: We reviewed the medical records of 41 patients with ATC who underwent the TERT promoter mutations test at Samsung Medical Center between November 1995 and December 2022. The aggressive treatment group was defined as patients who underwent surgery, external radiotherapy, and systemic therapy. Results: Among 41 patients, 15 (36.6%) showed TERT promoter mutations. There only differences in the clinicopathological characteristics between the TERT-mutant and wild-type groups were tumor size and coexistence of DTC. Median tumor size in the TERT-mutant group was 5.1 cm (3.0-11.0), which was significantly larger than that in the wild-type group (4.1 cm, 0.8-8.0, p=0.010). Nevertheless, the TERT-mutant group received relatively more aggressive treatment (53.3% vs. 19.2%, p=0.056), and the overall survival of the TERT-mutant group was longer than that of the wild-type group (9.4 months [0.4-51.5] vs. 7.1 months [0.4-49.5]), but its difference was not significant (p=0.458). In multiple regression analysis, distant metastasis was a significant prognostic factor, but TERT promoter mutation was not. Conclusion Unlike in DTC, TERT promoter mutations were not an independent poor prognostic factor in ATC.

Background and Objectives: Telomerase reverse transcriptase (TERT) promoter mutations are a poor prognostic factor in differentiated thyroid carcinoma (DTC). However, their prognostic value in anaplastic thyroid carcinoma (ATC) is unclear. Therefore, we investigated whether TERT promoter mutations also act as an independent poor prognostic factor in ATC. Materials and Methods: We reviewed the medical records of 41 patients with ATC who underwent the TERT promoter mutations test at Samsung Medical Center between November 1995 and December 2022. The aggressive treatment group was defined as patients who underwent surgery, external radiotherapy, and systemic therapy. Results: Among 41 patients, 15 (36.6%) showed TERT promoter mutations. There only differences in the clinicopathological characteristics between the TERT-mutant and wild-type groups were tumor size and coexistence of DTC. Median tumor size in the TERT-mutant group was 5.1 cm (3.0-11.0), which was significantly larger than that in the wild-type group (4.1 cm, 0.8-8.0, p=0.010). Nevertheless, the TERT-mutant group received relatively more aggressive treatment (53.3% vs. 19.2%, p=0.056), and the overall survival of the TERT-mutant group was longer than that of the wild-type group (9.4 months [0.4-51.5] vs. 7.1 months [0.4-49.5]), but its difference was not significant (p=0.458). In multiple regression analysis, distant metastasis was a significant prognostic factor, but TERT promoter mutation was not. Conclusion Unlike in DTC, TERT promoter mutations were not an independent poor prognostic factor in ATC.

Background: The adequate dose of levothyroxine (LT4) for patients who have undergone total thyroidectomy (TT) for differentiated thyroid cancer (DTC) is uncertain. We evaluated the LT4 dose required to achieve mild thyroid-stimulating hormone (TSH) suppression in DTC patients after TT. Methods: The electronic medical records of patients who underwent TT for DTC and received mild TSH suppression therapy were reviewed. Linear regression analysis was performed to evaluate the association between LT4 dose (μg/kg) and an ordinal group divided by body mass index (BMI). We also evaluated the trend in LT4 doses among groups divided by BMI and age. Results: In total, 123 patients achieved mild TSH suppression (0.1 to 0.5 mIU/L). The BMI variable was divided into three categories: <23 kg/m2 (n=46), ≥23 and <25 kg/m2 (n=30), and ≥25 kg/m2 (n=47). In the linear regression analysis, BMI was negatively associated with the LT4 dose after adjusting for age and sex (P<0.001). The LT4 doses required to achieve mild TSH suppression based on the BMI categories were 1.86, 1.71, and 1.71 μg/kg, respectively (P for trend <0.001). Further analysis with groups divided by age and BMI revealed that a higher BMI was related to a lower LT4 dose, especially in younger patients aged 20 to 39 (P for trend=0.011). Conclusion The study results suggest an appropriate LT4 dose for mild TSH suppression after TT based on body weight in patients with DTC. Considering body weight, BMI, and age in estimating LT4 doses might help to achieve the target TSH level promptly.

Objectives: The incidence of Guillain-Barré syndrome (GBS) changed significantly during the coronavirus disease 2019 (COVID-19) pandemic. Emerging reports suggest that viral vector-based vaccines may be associated with an elevated risk of GBS. Methods: In this nationwide time-series correlation study, we examined the age-specific incidence of GBS from January 2011 to August 2022, as well as data on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccinations and infections from February 2021 to August 2022. We compared the forecasted estimates of age-specific GBS incidence, using the pre-SARS-CoV-2 period as a benchmark, with the actual incidence observed during the post-vaccination period of the pandemic. Furthermore, we assessed the temporal association between GBS, SARS-CoV-2 vaccinations, and COVID-19 for different age groups. Results: In the age group of 60 and older, the rate ratio was significantly elevated during June-August and November 2021. A significant, strong positive association was observed between viral vector-based vaccines and GBS incidence trends in this age group (r=0.52, p=0.022). For the 30 to 59 years age group, the rate ratio was notably high in September 2021. A statistically significant, strong positive association was found between mRNA-based vaccines and GBS incidence in this age group (r=0.61, p=0.006). Conclusion Viral vector-based SARS-CoV-2 vaccines were found to be temporally associated with an increased risk of GBS, particularly in older adults. To minimize age-specific and biological mechanism-specific adverse events, future vaccination campaigns should adopt a more personalized approach, such as recommending homologous mRNA-based SARS-CoV-2 vaccines for older adults to reduce the heightened risk of GBS.

Background: Coronavirus disease 2019 (COVID-19) is generally asymptomatic or mild in otherwise healthy children, however, severe cases may occur. In this study, we report the clinical characteristics of children classified as critical COVID-19 in Korea to provide further insights into risk factors and management in children. Methods: This study was a retrospective case series of children < 18 years of age classified as critical COVID-19. Cases were identified by the Korea Disease Control and Prevention Agency surveillance system and medical records were reviewed. Critical COVID-19 was defined as cases with severe illness requiring noninvasive (high flow nasal cannula, continuous positive airway pressure, or bilevel positive airway pressure) or invasive mechanical ventilation, extracorporeal membrane oxygenation (ECMO) or continuous renal replacement therapy (CRRT), between January 20, 2020 and October 7, 2021. Results: Among 39,146 cases diagnosed with COVID-19 in subjects < 18 years of age, eight cases (0.02%) were identified as critical COVID-19. The median age was 13 years (range 10 month–17 years) and male-to-female ratio was 1:1. Three children had underlying diseases; one child has asthma and major depressive disorder, one child had LennoxGastaut syndrome and one child had mental retardation and was newly diagnosed with type 2 diabetes mellitus with the diagnosis of COVID-19. Among the eight children, seven were obese (body mass index range [BMI] median 29.3, range 25.9–38.2, weight-for-length > 97% for infant) and one was overweight (BMI 21.3). All patients had fever, six patients had dyspnea or cough and other accompanied symptoms included sore throat, headache, lethargy and myalgia. Radiologic findings showed pneumonia within 1–8 days after symptom onset. Pneumonia progressed in these children for 2–6 days and was improved within 5–32 days after diagnosis. Among the eight critical cases, remdesivir was administered in six cases.Steroids were provided for all cases. Inotropics were administered in one case. Six cases were treated with noninvasive mechanical ventilator and three required mechanical ventilator. One case required ECMO due to acute respiratory distress syndrome. All cases were admitted to the intensive care unit and admission period ranged from 9–39 days. Among all critical COVID-19 cases < 18 years of age, there were no fatal cases. Conclusion To develop appropriate policies for children in the COVID-19 pandemic, it is important to monitor and assess the clinical burden in this population.

Background: Bone mineral density (BMD) testing is indicated for women aged 65 years, but screening strategies for osteoporosis are controversial. Currently, there is no study focusing on the BMD testing interval in Asian populations. The current study aimed to evaluate the estimated time interval for screening osteoporosis. Methods: We conducted a study of 6,385 subjects aged 50 years and older who underwent dual-energy X-ray absorptiometry screening more than twice at Samsung Medical Center as participants in a routine health checkup. Subjects were divided based on baseline T-score into mild osteopenia (T-score, <–1.0 to >–1.5), moderate osteopenia (T-score, ≤–1.5 to >–2.0), and severe osteopenia (T-score, ≤–2.0 to >–2.5). Information about personal medical and social history was collected by a structured questionnaire. Results: The adjusted estimated BMD testing interval for 10% of the subjects to develop osteoporosis was 13.2 years in mild osteopenia, 5.0 years in moderate osteopenia, and 1.5 years in severe osteopenia. Conclusion Our study provides extended information about BMD screening intervals in Asian female population. Baseline T-score was important for predicting BMD screening interval, and repeat BMD testing within 5 years might not be necessary in mild osteopenia subjects.

Background: Thyroxine-binding globulin (TBG) is a major transporter protein for thyroid hormones. The serpin family A member 7 (SERPINA7) gene codes for TBG, and mutations of the SERPINA7 gene result in TBG deficiency. Although more than 40 mutations have been reported in several countries, only a few studies of TBG deficiency and SERPINA7 gene mutation have been performed in Korea. The aim of this study is to review the clinical presentations and laboratory findings of patients with TBG deficiency and to investigate the types of SERPINA7 gene mutation. Methods: Five unrelated Korean adults with TBG deficiency attending endocrinology clinic underwent SERPINA7 gene sequencing. Four patients harbored a SERPINA7 gene mutation. Serum thyroid hormones, anti-microsomal antibodies, and TBG were measured. Genomic DNA was extracted from whole blood. All exons and intron-exon boundaries of the TBG gene were amplified and sequencing was performed. Results: Two patients were heterozygous females, and the other two were hemizygous males. One heterozygous female had coexisting hypothyroidism. The other heterozygous female was erroneously prescribed levothyroxine at a local clinic. One hemizygous male harbored a novel mutation, p.Phe269Cysfs*18, which caused TBG partial deficiency. Three patients had the p.Leu372Phefs*23 mutation, which is known as TBG-complete deficiency Japan (TBG-CDJ) and was also presented in previous mutation analyses in Korea. Conclusion This study presents four patients diagnosed with TBG deficiency and provides the results of SERPINA7 gene sequencing. One novel mutation, p.Phe269Cysfs*18, causing TBD-partial deficiency and three cases of TBG-CDJ were demonstrated. It is necessary to identify TBG deficiency to prevent improper treatment. Also, sequencing of the SERPINA7 gene would provide valuable information about the TBG variants in Korea.

Background: Telomerase reverse transcriptase (TERT) promoter mutations are associated with increased recurrence and mortality in patients with thyroid carcinoma. Previous studies on TERT promoter mutations were retrospectively conducted on a limited number of patients. Methods: We prospectively collected data on all consecutive patients who underwent thyroid carcinoma surgery between January 2019 and December 2020 at the Samsung Medical Center, Seoul, Korea. We included 2,092 patients with thyroid carcinoma. Results: Of 2,092 patients, 72 patients (3.4%) had TERT promoter mutations. However, the frequency of TERT promoter mutations was 0.5% in papillary thyroid microcarcinoma (PTMC) ≤1 cm and it was 5.8% in papillary thyroid carcinoma (PTC) >1 cm. The frequency of TERT promoter mutations was significantly associated with older age at diagnosis (odds ratio [OR], 1.12; P<0.001), larger primary tumor size (OR, 2.02; P<0.001), and aggressive histological type (OR, 7.78 in follicular thyroid carcinoma; OR, 10.33 in poorly differentiated thyroid carcinoma; OR, 45.92 in anaplastic thyroid carcinoma; P<0.001). Advanced T stage, advanced N stage, and distant metastasis at diagnosis were highly prevalent in mutated thyroid cancers. However, initial distant metastasis was not present in patients with TERT promoter mutations in PTMC. Although the C228T mutation was more highly detected than the C250T mutation (64 cases vs. 7 cases), there were no significant clinicopathological differences. Conclusion This study is the first attempt to investigate the frequency of TERT promoter mutations in a real-world setting. The frequency of TERT promoter mutations in PTC was lower than expected, and in PTMC, young patients, and female patients, the frequency was very low.