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Volume 37(5); October 2022
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Review Articles
Thyroid
Update from the 2022 World Health Organization Classification of Thyroid Tumors: A Standardized Diagnostic Approach
Chan Kwon Jung, Andrey Bychkov, Kennichi Kakudo
Endocrinol Metab. 2022;37(5):703-718.   Published online October 4, 2022
DOI: https://doi.org/10.3803/EnM.2022.1553
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  • 1,037 Download
  • 14 Citations
AbstractAbstract PDFPubReader   ePub   CrossRef-TDMCrossref - TDM
The fifth edition of the World Health Organization (WHO) histologic classification of thyroid neoplasms released in 2022 includes newly recognized tumor types, subtypes, and a grading system. Follicular cell-derived neoplasms are categorized into three families (classes): benign tumors, low-risk neoplasms, and malignant neoplasms. The terms “follicular nodular disease” and “differentiated high-grade thyroid carcinoma” are introduced to account for multifocal hyperplastic/neoplastic lesions and differentiated thyroid carcinomas with high-grade features, respectively. The term “Hürthle cells” is replaced with “oncocytic cells.” Invasive encapsulated follicular and cribriform morular variants of papillary thyroid carcinoma (PTC) are now redefined as distinct tumor types, given their different genetic alterations and clinicopathologic characteristics from other PTC subtypes. The term “variant” to describe a subclass of tumor has been replaced with the term “subtype.” Instead, the term “variant” is reserved to describe genetic alterations. A histologic grading system based on the mitotic count, necrosis, and/or the Ki67 index is used to identify high-grade follicular-cell derived carcinomas and medullary thyroid carcinomas. The 2022 WHO classification introduces the following new categories: “salivary gland-type carcinomas of the thyroid” and “thyroid tumors of uncertain histogenesis.” This review summarizes the major changes in the 2022 WHO classification and their clinical relevance.

Citations

Citations to this article as recorded by  
  • Update on C-Cell Neuroendocrine Neoplasm: Prognostic and Predictive Histopathologic and Molecular Features of Medullary Thyroid Carcinoma
    Chan Kwon Jung, Shipra Agarwal, Jen-Fan Hang, Dong-Jun Lim, Andrey Bychkov, Ozgur Mete
    Endocrine Pathology.2023; 34(1): 1.     CrossRef
  • The 5th edition of WHO classification of tumors of endocrine organs: changes in the diagnosis of follicular-derived thyroid carcinoma
    Fulvio Basolo, Elisabetta Macerola, Anello Marcello Poma, Liborio Torregrossa
    Endocrine.2023; 80(3): 470.     CrossRef
  • Preoperative Risk Stratification of Follicular-patterned Thyroid Lesions on Core Needle Biopsy by Histologic Subtyping and RAS Variant-specific Immunohistochemistry
    Meejeong Kim, Sora Jeon, Chan Kwon Jung
    Endocrine Pathology.2023;[Epub]     CrossRef
  • Ultrasound evolution of parenchymal changes in the thyroid gland with autoimmune thyroiditis in children prior to the development of papillary thyroid carcinoma – a follow-up study
    Dominika Januś, Monika Kujdowicz, Małgorzata Wójcik, Anna Taczanowska-Niemczuk, Aleksandra Kiszka-Wiłkojć, Wojciech Górecki, Jerzy B. Starzyk
    Frontiers in Endocrinology.2023;[Epub]     CrossRef
  • Papillary thyroid carcinoma with aggressive fused follicular and solid growth pattern: A unique histological subtype with high‐grade malignancy?
    Shin‐ichi Murata, Ibu Matsuzaki, Mitsuo Kishimoto, Naomi Katsuki, Toshinori Onishi, Mitsuyoshi Hirokawa, Fumiyoshi Kojima
    Pathology International.2023; 73(5): 207.     CrossRef
  • Multi-Omics and Management of Follicular Carcinoma of the Thyroid
    Thifhelimbilu Emmanuel Luvhengo, Ifongo Bombil, Arian Mokhtari, Maeyane Stephens Moeng, Demetra Demetriou, Claire Sanders, Zodwa Dlamini
    Biomedicines.2023; 11(4): 1217.     CrossRef
  • Molecular Genetics of Diffuse Sclerosing Papillary Thyroid Cancer
    Meshael Alswailem, Balgees Alghamdi, Anwar Alotaibi, Abeer Aljomiah, Hindi Al-Hindi, Avaniyapuram Kannan Murugan, Mohamed Abouelhoda, Yufei Shi, Ali S Alzahrani
    The Journal of Clinical Endocrinology & Metabolism.2023;[Epub]     CrossRef
  • Multifunctional Phase-Transition Nanoparticles for Effective Targeted Sonodynamic-Gene Therapy Against Thyroid Papillary Carcinoma
    Shihui Guan, Dengke Teng, Hui Wang, Qimeihui Wang, Xi Zhen, Guoqing Sui, Yang Wang, Lingyu Zhu, Yuanqiang Lin, Dan Jiao, Feng Guo
    International Journal of Nanomedicine.2023; Volume 18: 2275.     CrossRef
  • Utilizing Dynamic Risk Stratification in Patients With Tall Cell Variant Papillary Thyroid Cancer
    David Zimmer, Gilman Plitt, Brandon Prendes, Jamie Ku, Natalie Silver, Eric Lamarre, Emrullah Yilmaz, Jessica Geiger, Christian Nasr, Lea El Hage, Mario Skugor, Shauna Cambpell, Shlomo Koyfman, Jacob Miller, Neil Woody, Katherine Heiden, Nikhil Joshi, Tar
    The Laryngoscope.2023;[Epub]     CrossRef
  • Ultrasound, laboratory and histopathological insights in diagnosing papillary thyroid carcinoma in a paediatric population: a single centre follow-up study between 2000-2022
    Dominika Januś, Małgorzata Wójcik, Anna Taczanowska-Niemczuk, Aleksandra Kiszka-Wiłkojć, Monika Kujdowicz, Małgorzata Czogała, Wojciech Górecki, Jerzy B. Starzyk
    Frontiers in Endocrinology.2023;[Epub]     CrossRef
  • Medullary Thyroid Carcinoma: A Single Institute Experience
    Sonal Trivedi, T. Salahuddin, Mohamed Taher Mithi, Priyank Rathod, Arpit Bandi, Shashank J. Pandya, Mohit Sharma, Shailesh Patel, Vikas Warikoo, Ketul Puj, Abhijeet Salunkhe, Keval Patel, Shivam Pandya
    Indian Journal of Otolaryngology and Head & Neck Surgery.2023;[Epub]     CrossRef
  • Reprogramming of Cellular Metabolism and Its Therapeutic Applications in Thyroid Cancer
    Yuji Nagayama, Koichiro Hamada
    Metabolites.2022; 12(12): 1214.     CrossRef
  • Developments to improve outcomes in thyroid surgery
    Thomas J. Musholt
    Innovative Surgical Sciences.2022; 7(3-4): 77.     CrossRef
  • The relationship of the clinicopathological characteristics and treatment results of post-Chornobyl papillary thyroid microcarcinomas with the latency period and radiation exposure
    Tetiana Bogdanova, Serhii Chernyshov, Liudmyla Zurnadzhy, Tatiana I. Rogounovitch, Norisato Mitsutake, Mykola Tronko, Masahiro Ito, Michael Bolgov, Sergii Masiuk, Shunichi Yamashita, Vladimir A. Saenko
    Frontiers in Endocrinology.2022;[Epub]     CrossRef
Hypothalamus and Pituitary Gland
Independent Skeletal Actions of Pituitary Hormones
Se-Min Kim, Farhath Sultana, Funda Korkmaz, Daria Lizneva, Tony Yuen, Mone Zaidi
Endocrinol Metab. 2022;37(5):719-731.   Published online September 28, 2022
DOI: https://doi.org/10.3803/EnM.2022.1573
  • 1,578 View
  • 174 Download
  • 3 Citations
AbstractAbstract PDFPubReader   ePub   CrossRef-TDMCrossref - TDM
Over the past years, pituitary hormones and their receptors have been shown to have non-traditional actions that allow them to bypass the hypothalamus-pituitary-effector glands axis. Bone cells—osteoblasts and osteoclasts—express receptors for growth hormone, follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), adrenocorticotrophic hormone (ACTH), prolactin, oxytocin, and vasopressin. Independent skeletal actions of pituitary hormones on bone have been studied using genetically modified mice with haploinsufficiency and by activating or inactivating the receptors pharmacologically, without altering systemic effector hormone levels. On another front, the discovery of a TSH variant (TSH-βv) in immune cells in the bone marrow and skeletal action of FSHβ through tumor necrosis factor α provides new insights underscoring the integrated physiology of bone-immune-endocrine axis. Here we discuss the interaction of each pituitary hormone with bone and the potential it holds in understanding bone physiology and as a therapeutic target.

Citations

Citations to this article as recorded by  
  • New tools for bone health assessment in secreting pituitary adenomas
    Meliha Melin Uygur, Stefano Frara, Luigi di Filippo, Andrea Giustina
    Trends in Endocrinology & Metabolism.2023; 34(4): 231.     CrossRef
  • A Causality between Thyroid Function and Bone Mineral Density in Childhood: Abnormal Thyrotropin May Be Another Pediatric Predictor of Bone Fragility
    Dongjin Lee, Moon Ahn
    Metabolites.2023; 13(3): 372.     CrossRef
  • The mechanism of oxytocin and its receptors in regulating cells in bone metabolism
    Liu Feixiang, Feng Yanchen, Li Xiang, Zhang Yunke, Miao Jinxin, Wang Jianru, Lin Zixuan
    Frontiers in Pharmacology.2023;[Epub]     CrossRef
Calcium & Bone Metabolism
Updates on Paget’s Disease of Bone
Yong Jun Choi, Young Bae Sohn, Yoon-Sok Chung
Endocrinol Metab. 2022;37(5):732-743.   Published online October 25, 2022
DOI: https://doi.org/10.3803/EnM.2022.1575
  • 1,554 View
  • 208 Download
  • 1 Citations
AbstractAbstract PDFPubReader   ePub   CrossRef-TDMCrossref - TDM
Paget’s disease of the bone is a prevalent bone disease characterized by disorganized bone remodeling; however, it is comparatively uncommon in East Asian countries, including China, Japan, and Korea. The exact cause still remains unknown. In genetically susceptible individuals, environmental triggers such as paramyxoviral infections are likely to cause the disease. Increased osteoclast activity results in increased bone resorption, which attracts osteoblasts and generates new bone matrix. Fast bone resorption and formation lead to the development of disorganized bone tissue. Increasing serum alkaline phosphatase or unique radiographic lesions may serve as the diagnostic indicators. Common symptoms include bone pain, bowing of the long bones, an enlarged skull, and hearing loss. The diagnosis is frequently confirmed by radiographic and nuclear scintigraphy of the bone. Further, bisphosphonates such as zoledronic acid and pamidronate are effective for its treatment. Moreover, biochemical monitoring is superior to the symptoms as a recurrence indicator. This article discusses the updates of Paget’s disease of bone with a clinical case.

Citations

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  • Newly Diagnosed Monostotic Paget’s Disease of Bone during Living Kidney Donor Candidate Evaluation
    Diana Jędrzejuk, Paweł Poznański, Paweł Szewczyk, Oktawia Mazanowska, Marek Bolanowski, Magdalena Krajewska, Dorota Kamińska
    Biomedicines.2023; 11(2): 401.     CrossRef
Calcium & Bone Metabolism
Update on Preoperative Parathyroid Localization in Primary Hyperparathyroidism
Hye-Sun Park, Namki Hong, Jong Ju Jeong, Mijin Yun, Yumie Rhee
Endocrinol Metab. 2022;37(5):744-755.   Published online October 25, 2022
DOI: https://doi.org/10.3803/EnM.2022.1589
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  • 228 Download
AbstractAbstract PDFPubReader   ePub   CrossRef-TDMCrossref - TDM
Parathyroidectomy is the treatment of choice for primary hyperparathyroidism when the clinical criteria are met. Although bilateral neck exploration is traditionally the standard method for surgery, minimally invasive parathyroidectomy (MIP), or focused parathyroidectomy, has been widely accepted with comparable curative outcomes. For successful MIP, accurate preoperative localization of parathyroid lesions is essential. However, no consensus exists on the optimal approach for localization. Currently, ultrasonography and technetium-99m-sestamibi–single photon emission computed tomography/computed tomography are widely accepted in most cases. However, exact localization cannot always be achieved, especially in cases with multiglandular disease, ectopic glands, recurrent disease, and normocalcemic primary hyperparathyroidism. Therefore, new modalities for preoperative localization have been developed and evaluated. Positron emission tomography/computed tomography and parathyroid venous sampling have demonstrated improvements in sensitivity and accuracy. Both anatomical and functional information can be obtained by combining these methods. As each approach has its advantages and disadvantages, the localization study should be deliberately chosen based on each patient’s clinical profile, costs, radiation exposure, and the availability of experienced experts. In this review, we summarize various methods for the localization of hyperfunctioning parathyroid tissues in primary hyperparathyroidism.
Editorial
Diabetes, Obesity and Metabolism
You Can’t Avoid Shift Work? Then Focus on Body Fat Rather than Weight
Eun Kyung Lee
Endocrinol Metab. 2022;37(5):756-758.   Published online October 25, 2022
DOI: https://doi.org/10.3803/EnM.2022.501
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Original Articles
Diabetes, Obesity and Metabolism
Big Data Articles (National Health Insurance Service Database)
Association between the Diabetes Drug Cost and Cardiovascular Events and Death in Korea: A National Health Insurance Service Database Analysis
Seung Min Chung, Ji-In Lee, Eugene Han, Hyun-Ae Seo, Eonju Jeon, Hye Soon Kim, Ji Sung Yoon
Endocrinol Metab. 2022;37(5):759-769.   Published online October 5, 2022
DOI: https://doi.org/10.3803/EnM.2022.1515
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  • 146 Download
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   CrossRef-TDMCrossref - TDM
Background
This study aimed to investigate the long-term effects of diabetes drug costs on cardiovascular (CV) events and death.
Methods
This retrospective observational study used data from 2009 to 2018 from the National Health Insurance in Korea. Among the patients with type 2 diabetes, those taking antidiabetic drugs and who did not have CV events until 2009 were included. Patients were divided into quartiles (Q1 [lowest]–4 [highest]) according to the 2009 diabetes drug cost. In addition, the 10-year incidences of CV events (non-fatal myocardial infarction, stroke, hospitalization for heart failure, and coronary revascularization) and CV death (death due to CV events) were analyzed.
Results
A total of 441,914 participants were enrolled (median age, 60 years; men, 57%). CV events and death occurred in 28.1% and 8.36% of the patients, respectively. The 10-year incidences of CV events and deaths increased from Q1 to 4. After adjusting for sex, age, income, type of diabetes drugs, comorbidities, and smoking and drinking status, the risk of CV events significantly increased according to the sequential order of the cost quartiles. In contrast, the risk of CV death showed a U-shaped pattern, which was the lowest in Q3 (hazard ratio [HR], 0.953; 95% confidence interval [CI], 0.913 to 0.995) and the highest in Q4 (HR, 1.266; 95% CI, 1.213 to 1.321).
Conclusion
Diabetes drug expenditure affects 10-year CV events and mortality. Therefore, affording an appropriate diabetes drug cost at a similar risk of CV is an independent protective factor against CV death.
Diabetes, Obesity and Metabolism
Big Data Articles (National Health Insurance Service Database)
Association among Current Smoking, Alcohol Consumption, Regular Exercise, and Lower Extremity Amputation in Patients with Diabetic Foot: Nationwide Population-Based Study
Yoon Jae Lee, Kyung-Do Han, Jun Hyeok Kim
Endocrinol Metab. 2022;37(5):770-780.   Published online October 12, 2022
DOI: https://doi.org/10.3803/EnM.2022.1519
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AbstractAbstract PDFPubReader   ePub   CrossRef-TDMCrossref - TDM
Background
The present study investigates whether modifiable behavioral factors of current cigarette smoking, heavy alcohol consumption, and regular exercise are associated with risk of lower extremity amputation (LEA) in diabetic patients.
Methods
A total of 2,644,440 diabetic patients (aged ≥20 years) was analyzed using the database of the Korean National Health Insurance Service. Cox proportional hazard regression was used to assess adjusted hazard ratios (HRs) for the behavioral factors with risk of LEA under adjustment for potential confounders.
Results
The risk of LEA was significantly increased by current cigarette smoking and heavy alcohol consumption (HR, 1.436; 95% confidence interval [CI], 1.367 to 1.508 and HR, 1.082; 95% CI, 1.011 to 1.158) but significantly decreased with regular exercise (HR, 0.745; 95% CI, 0.706 to 0.786) after adjusting for age, sex, smoking, alcohol consumption, exercise, low income, hypertension, dyslipidemia, body mass index, using insulin or oral antidiabetic drugs, and diabetic duration. A synergistically increased risk of LEA was observed with larger number of risky behaviors.
Conclusion
Modification of behaviors of current smoking, heavy alcohol intake, and exercise prevents LEA and can improve physical, emotional, and social quality of life in diabetic patients.
Diabetes, Obesity and Metabolism
Association of Shift Work with Normal-Weight Obesity in Community-Dwelling Adults
Chul Woo Ahn, Sungjae Shin, Seunghyun Lee, Hye-Sun Park, Namki Hong, Yumie Rhee
Endocrinol Metab. 2022;37(5):781-790.   Published online October 25, 2022
DOI: https://doi.org/10.3803/EnM.2022.1532
  • 1,504 View
  • 137 Download
  • 2 Citations
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   CrossRef-TDMCrossref - TDM
Background
Shift work is associated with obesity and metabolic syndrome. However, this association in the normal-weight population remains unclear. This study aimed to investigate whether shift work is associated with normal-weight obesity (NWO).
Methods
From the nationally representative Korea National Health and Nutrition Examination Survey (KNHANES) dataset (2008 to 2011), 3,800 full-time workers aged ≥19 years with a body mass index (BMI) ≤25 kg/m2 were analysed. We defined NWO as BMI ≤25 kg/m2 and body fat percentage ≥25% in men and ≥37% in women. Working patterns were classified into “daytime,” “other than daytime,” and “shift.” Multivariable logistic regression analysis was performed to evaluate the relationship between shift work and NWO.
Results
Shift work was associated with higher odds of NWO than daytime work (adjusted odds ratio [aOR], 1.47; 95% confidence interval [CI], 1.04 to 2.09) and night/evening work (aOR, 1.87; 95% CI, 1.11 to 3.14) after adjustment for type of work, working hours, age, sex, BMI, 25-hydroxyvitamin D levels, homeostatic model assessment for insulin resistance, and other sociodemographic factors. In subgroup analyses, the association between shift work and NWO was more robust in those aged ≥60 years and those working ≥56 hours/week.
Conclusion
Shift work was associated with NWO in community-dwelling Korean adults, independent of age, sex, BMI, and other covariates.

Citations

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  • Impaired Melatonin Secretion, Oxidative Stress and Metabolic Syndrome in Night Shift Work
    Sorina Hohor, Cristina Mandanach, Andreea Maftei, Corina Aurelia Zugravu, Marina Ruxandra Oțelea
    Antioxidants.2023; 12(4): 959.     CrossRef
  • You Can’t Avoid Shift Work? Then Focus on Body Fat Rather than Weight
    Eun Kyung Lee
    Endocrinology and Metabolism.2022; 37(5): 756.     CrossRef
Thyroid
Big Data Articles (National Health Insurance Service Database)
Recent Changes in the Incidence of Thyroid Cancer in Korea between 2005 and 2018: Analysis of Korean National Data
Yun Mi Choi, Jiwoo Lee, Mi Kyung Kwak, Min Ji Jeon, Tae Yong Kim, Eun-Gyoung Hong, Won Bae Kim, Won Gu Kim
Endocrinol Metab. 2022;37(5):791-799.   Published online October 11, 2022
DOI: https://doi.org/10.3803/EnM.2022.1533
  • 1,232 View
  • 155 Download
  • 2 Citations
AbstractAbstract PDFPubReader   ePub   CrossRef-TDMCrossref - TDM
Background
In this study, we evaluated the recent changes in the standardized, age-specific, stage-specific incidence rates (IRs) of thyroid cancer in Korea and compared them with the incidence data reported by the Surveillance, Epidemiology, and End Results Program.
Methods
The analysis was conducted using the incidence data (2005 to 2018) from the Statistics Korea and Korea Central Cancer Registry.
Results
The age-standardized IR (SIR) of thyroid cancer increased from 24.09 per 100,000 in 2005 to 74.83 in 2012 (annual percent change [APC], 14.5). From 2012 to 2015, the SIR decreased to 42.52 (APC, –17.9) and then remained stable until 2018 (APC, 2.1). This trend was similar in both men and women. Regarding age-specific IRs, the IRs for ages of 30 years and older showed a trend similar to that of the SIR; however, for ages below 30 years, no significant reduction was observed from the vertex of IR in 2015. Regarding stage-specific IRs, the increase was more prominent in those with regional disease (APC, 17.4) than in those with localized disease until 2012; then, the IR decreased until 2015 (APC, –16.1). The average APC from 2005 to 2018 increased in men, those under the age of 30 years, and those with regional disease.
Conclusion
The SIR in Korea peaked in 2012 and decreased until 2015 and then remained stable until 2018. However, in young individuals under the age of 30 years, the IR did not significantly decrease but tended to increase again. In terms of stage-specific IRs, the sharpest increase was seen among those with regional disease.

Citations

Citations to this article as recorded by  
  • Cancer and Mortality Risks of Graves’ Disease in South Korea Based on National Data from 2010 to 2019
    Young Ju Choi, Kyungdo Han, Won Kyoung Cho, Min Ho Jung, Byung-Kyu Suh
    Clinical Epidemiology.2023; Volume 15: 535.     CrossRef
  • Survival Comparison of Incidentally Found versus Clinically Detected Thyroid Cancers: An Analysis of a Nationwide Cohort Study
    Shinje Moon, Eun Kyung Lee, Hoonsung Choi, Sue K. Park, Young Joo Park
    Endocrinology and Metabolism.2023; 38(1): 81.     CrossRef
Miscellaneous
DN200434 Inhibits Vascular Smooth Muscle Cell Proliferation and Prevents Neointima Formation in Mice after Carotid Artery Ligation
Sudeep Kumar, Jonghwa Jin, Hyeon Young Park, Mi-Jin Kim, Jungwook Chin, Sungwoo Lee, Jina Kim, Jung-Guk Kim, Yeon-Kyung Choi, Keun-Gyu Park
Endocrinol Metab. 2022;37(5):800-809.   Published online September 28, 2022
DOI: https://doi.org/10.3803/EnM.2022.1462
  • 1,423 View
  • 150 Download
  • 1 Citations
AbstractAbstract PDFPubReader   ePub   CrossRef-TDMCrossref - TDM
Background
Excessive proliferation and migration of vascular smooth muscle cells (VSMCs), which contributes to the development of occlusive vascular diseases, requires elevated mitochondrial oxidative phosphorylation to meet the increased requirements for energy and anabolic precursors. Therefore, therapeutic strategies based on blockade of mitochondrial oxidative phosphorylation are considered promising for treatment of occlusive vascular diseases. Here, we investigated whether DN200434, an orally available estrogen receptor-related gamma inverse agonist, inhibits proliferation and migration of VSMCs and neointima formation by suppressing mitochondrial oxidative phosphorylation.
Methods
VSMCs were isolated from the thoracic aortas of 4-week-old Sprague-Dawley rats. Oxidative phosphorylation and the cell cycle were analyzed in fetal bovine serum (FBS)- or platelet-derived growth factor (PDGF)-stimulated VSMCs using a Seahorse XF-24 analyzer and flow cytometry, respectively. A model of neointimal hyperplasia was generated by ligating the left common carotid artery in male C57BL/6J mice.
Results
DN200434 inhibited mitochondrial respiration and mammalian target of rapamycin complex 1 activity and consequently suppressed FBS- or PDGF-stimulated proliferation and migration of VSMCs and cell cycle progression. Furthermore, DN200434 reduced carotid artery ligation-induced neointima formation in mice.
Conclusion
Our data suggest that DN200434 is a therapeutic option to prevent the progression of atherosclerosis.

Citations

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  • Jatrorrhizine inhibits Piezo1 activation and reduces vascular inflammation in endothelial cells
    Tianying Hong, Xianmei Pan, Han Xu, Zhijuan Zheng, Lizhen Wen, Jing Li, Mingfeng Xia
    Biomedicine & Pharmacotherapy.2023; 163: 114755.     CrossRef
Brief Report
Adrenal Gland
A Novel Missense PRKAR1A Variant Causes Carney Complex
Boram Kim, Han Na Jang, Kyung Shil Chae, Ho Seop Shin, Yong Hwy Kim, Su Jin Kim, Moon-Woo Seong, Jung Hee Kim
Endocrinol Metab. 2022;37(5):810-815.   Published online October 4, 2022
DOI: https://doi.org/10.3803/EnM.2022.1544
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  • 130 Download
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   CrossRef-TDMCrossref - TDM
The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of PRKAR1A (c.176A>T). Her relatives, suspected of having CNC, also carried the same variant. RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. This study broadens our understanding of the genetic spectrum of CNC. We suggest that PRKAR1A genetic testing and counseling be recommended for patients with CNC and their families.
Letter
Thyroid
Re-Increasing Trends in Thyroid Cancer Incidence after a Short Period of Decrease in Korea: Reigniting the Debate on Ultrasound Screening
Chan Kwon Jung, Ja Seong Bae, Young Joo Park
Endocrinol Metab. 2022;37(5):816-818.   Published online October 11, 2022
DOI: https://doi.org/10.3803/EnM.2022.1586
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  • 140 Download
  • 1 Citations
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Citations

Citations to this article as recorded by  
  • Survival Comparison of Incidentally Found versus Clinically Detected Thyroid Cancers: An Analysis of a Nationwide Cohort Study
    Shinje Moon, Eun Kyung Lee, Hoonsung Choi, Sue K. Park, Young Joo Park
    Endocrinology and Metabolism.2023; 38(1): 81.     CrossRef

Endocrinol Metab : Endocrinology and Metabolism