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Toward Systems-Level Metabolic Analysis in Endocrine Disorders and Cancer
Aliya Lakhani, Da Hyun Kang, Yea Eun Kang, Junyoung O. Park
Endocrinol Metab. 2023;38(6):619-630.   Published online November 21, 2023
DOI: https://doi.org/10.3803/EnM.2023.1814
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AbstractAbstract PDFPubReader   ePub   
Metabolism is a dynamic network of biochemical reactions that support systemic homeostasis amidst changing nutritional, environmental, and physical activity factors. The circulatory system facilitates metabolite exchange among organs, while the endocrine system finely tunes metabolism through hormone release. Endocrine disorders like obesity, diabetes, and Cushing’s syndrome disrupt this balance, contributing to systemic inflammation and global health burdens. They accompany metabolic changes on multiple levels from molecular interactions to individual organs to the whole body. Understanding how metabolic fluxes relate to endocrine disorders illuminates the underlying dysregulation. Cancer is increasingly considered a systemic disorder because it not only affects cells in localized tumors but also the whole body, especially in metastasis. In tumorigenesis, cancer-specific mutations and nutrient availability in the tumor microenvironment reprogram cellular metabolism to meet increased energy and biosynthesis needs. Cancer cachexia results in metabolic changes to other organs like muscle, adipose tissue, and liver. This review explores the interplay between the endocrine system and systems-level metabolism in health and disease. We highlight metabolic fluxes in conditions like obesity, diabetes, Cushing’s syndrome, and cancers. Recent advances in metabolomics, fluxomics, and systems biology promise new insights into dynamic metabolism, offering potential biomarkers, therapeutic targets, and personalized medicine.

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  • Editorial: Tumor metabolism and programmed cell death
    Dan-Lan Pu, Qi-Nan Wu
    Frontiers in Endocrinology.2024;[Epub]     CrossRef
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Thyroid
Propylthiouracil-Induced Antineutrophil Cytoplasmic Antibody-Positive Vasculitis and Agranulocytosis: A Rare Case with Life-Threatening Multiple Systemic Manifestations
Da Hyun Kang, Mi-Kyung Song, Sang-Hyeon Ju, Song-I Lee, Yea Eun Kang
Endocrinol Metab. 2023;38(2):282-284.   Published online March 13, 2023
DOI: https://doi.org/10.3803/EnM.2022.1643
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  • Methylprednisolone/propylthiouracil

    Reactions Weekly.2023; 1962(1): 264.     CrossRef
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Letter
Thyroid
Efficient Dissociation Protocol for Generation of Single Cell Suspension from Human Thyroid Tissue for Single Cell RNA Sequencing
Shinae Yi, Hyun Jung Kim, Bon Seok Koo, Seong Eun Lee, Jahyun Choi, Yea Eun Kang
Endocrinol Metab. 2022;37(4):698-700.   Published online August 29, 2022
DOI: https://doi.org/10.3803/EnM.2022.1536
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  • 121 Download
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  • Unraveling the role of the mitochondrial one-carbon pathway in undifferentiated thyroid cancer by multi-omics analyses
    Seong Eun Lee, Seongyeol Park, Shinae Yi, Na Rae Choi, Mi Ae Lim, Jae Won Chang, Ho-Ryun Won, Je Ryong Kim, Hye Mi Ko, Eun-Jae Chung, Young Joo Park, Sun Wook Cho, Hyeong Won Yu, June Young Choi, Min-Kyung Yeo, Boram Yi, Kijong Yi, Joonoh Lim, Jun-Young K
    Nature Communications.2024;[Epub]     CrossRef
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Review Article
Thyroid
Development of Metabolic Synthetic Lethality and Its Implications for Thyroid Cancer
Sang-Hyeon Ju, Seong Eun Lee, Yea Eun Kang, Minho Shong
Endocrinol Metab. 2022;37(1):53-61.   Published online February 28, 2022
DOI: https://doi.org/10.3803/EnM.2022.1402
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  • 1 Web of Science
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AbstractAbstract PDFPubReader   ePub   
Cancer therapies targeting genetic alterations are a topic of great interest in the field of thyroid cancer, which frequently harbors mutations in the RAS, RAF, and RET genes. Unfortunately, U.S. Food and Drug Administration-approved BRAF inhibitors have relatively low therapeutic efficacy against BRAF-mutant thyroid cancer; in addition, the cancer often acquires drug resistance, which prevents effective treatment. Recent advances in genomics and transcriptomics are leading to a more complete picture of the range of mutations, both driver and messenger, present in thyroid cancer. Furthermore, our understanding of cancer suggests that oncogenic mutations drive tumorigenesis and induce rewiring of cancer cell metabolism, which promotes survival of mutated cells. Synthetic lethality (SL) is a method of neutralizing mutated genes that were previously considered untargetable by traditional genotype-targeted treatments. Because these metabolic events are specific to cancer cells, we have the opportunity to develop new therapies that target tumor cells specifically without affecting healthy tissue. Here, we describe developments in metabolism-based cancer therapy, focusing on the concept of metabolic SL in thyroid cancer. Finally, we discuss the essential implications of metabolic reprogramming and its role in the future direction of SL for thyroid cancer.

Citations

Citations to this article as recorded by  
  • Toward Systems-Level Metabolic Analysis in Endocrine Disorders and Cancer
    Aliya Lakhani, Da Hyun Kang, Yea Eun Kang, Junyoung O. Park
    Endocrinology and Metabolism.2023; 38(6): 619.     CrossRef
  • The Role of De novo Serine Biosynthesis from Glucose in Papillary Thyroid Cancer
    Seong Eun Lee, Na Rae Choi, Jin-Man Kim, Mi Ae Lim, Bon Seok Koo, Yea Eun Kang
    International Journal of Thyroidology.2023; 16(2): 175.     CrossRef
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Corrigendum
Miscellaneous
Corrigendum: Correction of Acknowledgments. Protocol for a Korean Multicenter Prospective Cohort Study of Active Surveillance or Surgery (KoMPASS) in Papillary Thyroid Microcarcinoma
Min Ji Jeon, Yea Eun Kang, Jae Hoon Moon, Dong Jun Lim, Chang Yoon Lee, Yong Sang Lee, Sun Wook Kim, Min-Hee Kim, Bo Hyun Kim, Ho-Cheol Kang, Minho Shong, Sun Wook Cho, Won Bae Kim
Endocrinol Metab. 2022;37(1):181-182.   Published online February 28, 2022
DOI: https://doi.org/10.3803/EnM.2022.104
Corrects: Endocrinol Metab 2021;36(2):359
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  • Risk of thyroid cancer associated with glucagon‐like peptide‐1 receptor agonists and dipeptidyl peptidase‐4 inhibitors in patients with type 2 diabetes: A population‐based cohort study
    Sungho Bea, Heejun Son, Jae Hyun Bae, Sun Wook Cho, Ju‐Young Shin, Young Min Cho
    Diabetes, Obesity and Metabolism.2024; 26(1): 108.     CrossRef
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Original Articles
Thyroid
Clinicopathological Characteristics and Disease-Free Survival in Patients with Hürthle Cell Carcinoma: A Multicenter Cohort Study in South Korea
Meihua Jin, Eun Sook Kim, Bo Hyun Kim, Hee Kyung Kim, Yea Eun Kang, Min Ji Jeon, Tae Yong Kim, Ho-Cheol Kang, Won Bae Kim, Young Kee Shong, Mijin Kim, Won Gu Kim
Endocrinol Metab. 2021;36(5):1078-1085.   Published online October 28, 2021
DOI: https://doi.org/10.3803/EnM.2021.1151
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AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Background
Hürthle cell carcinoma (HCC), a type of thyroid carcinoma, is rare in South Korea, and few studies have investigated its prognosis.
Methods
This long-term multicenter retrospective cohort study evaluated the clinicopathological features and clinical outcomes in patients with HCC who underwent thyroid surgery between 1996 and 2009.
Results
The mean age of the 97 patients included in the study was 50.3 years, and 26.8% were male. The mean size of the primary tumor was 3.2±1.8 cm, and three (3.1%) patients had distant metastasis at initial diagnosis. Ultrasonographic findings were available for 73 patients; the number of nodules with low-, intermediate-, and high suspicion was 28 (38.4%), 27 (37.0%), and 18 (24.7%), respectively, based on the Korean-Thyroid Imaging Reporting and Data System. Preoperatively, follicular neoplasm (FN) or suspicion for FN accounted for 65.2% of the cases according to the Bethesda category, and 13% had malignancy or suspicious for malignancy. During a median follow-up of 8.5 years, eight (8.2%) patients had persistent/recurrent disease, and none died of HCC. Older age, gross extrathyroidal extension (ETE), and widely invasive types of tumors were significantly associated with distant metastasis (all P<0.01). Gross ETE (hazard ratio [HR], 27.7; 95% confidence interval [CI], 2.2 to 346.4; P=0.01) and widely invasive classification (HR, 6.5; 95% CI, 1.1 to 39.4; P=0.04) were independent risk factors for poor disease-free survival (DFS).
Conclusion
The long-term prognosis of HCC is relatively favorable in South Korea from this study, although this is not a nation-wide data, and gross ETE and widely invasive cancer are significant prognostic factors for DFS. The diagnosis of HCC by ultrasonography and cytopathology remains challenging.

Citations

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  • Molecular Alterations and Comprehensive Clinical Management of Oncocytic Thyroid Carcinoma
    Lindsay A. Bischoff, Ian Ganly, Laura Fugazzola, Erin Buczek, William C. Faquin, Bryan R. Haugen, Bryan McIver, Caitlin P. McMullen, Kate Newbold, Daniel J. Rocke, Marika D. Russell, Mabel Ryder, Peter M. Sadow, Eric Sherman, Maisie Shindo, David C. Shonk
    JAMA Otolaryngology–Head & Neck Surgery.2024; 150(3): 265.     CrossRef
  • Oncocytic carcinoma of the thyroid: Conclusions from a 20‐year patient cohort
    Nelson R. Gruszczynski, Shahzeb S. Hasan, Ana G. Brennan, Julian De La Chapa, Adithya S. Reddy, David N. Martin, Prem P. Batchala, Edward B. Stelow, Eric M. Dowling, Katherine L. Fedder, Jonathan C. Garneau, David C. Shonka
    Head & Neck.2024;[Epub]     CrossRef
  • Hurthle cell carcinoma: a rare variant of thyroid malignancy – a case report
    Yuvraj Adhikari, Anupama Marasini, Nawaraj Adhikari, Laxman D. Paneru, Binit Upadhaya Regmi, Manita Raut
    Annals of Medicine & Surgery.2023; 85(5): 1940.     CrossRef
  • Hürthle Cell Carcinoma: Single Center Analysis and Considerations for Surgical Management Based on the Recent Literature
    Costanza Chiapponi, Milan J.M. Hartmann, Matthias Schmidt, Michael Faust, Christiane J. Bruns, Anne M. Schultheis, Hakan Alakus
    Frontiers in Endocrinology.2022;[Epub]     CrossRef
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Diabetes, Obesity and Metabolism
Expression of LONP1 Is High in Visceral Adipose Tissue in Obesity, and Is Associated with Glucose and Lipid Metabolism
Ju Hee Lee, Saet-Byel Jung, Seong Eun Lee, Ji Eun Kim, Jung Tae Kim, Yea Eun Kang, Seul Gi Kang, Hyon-Seung Yi, Young Bok Ko, Ki Hwan Lee, Bon Jeong Ku, Minho Shong, Hyun Jin Kim
Endocrinol Metab. 2021;36(3):661-671.   Published online June 22, 2021
DOI: https://doi.org/10.3803/EnM.2021.1023
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AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Background
The nature and role of the mitochondrial stress response in adipose tissue in relation to obesity are not yet known. To determine whether the mitochondrial unfolded protein response (UPRmt) in adipose tissue is associated with obesity in humans and rodents.
Methods
Visceral adipose tissue (VAT) was obtained from 48 normoglycemic women who underwent surgery. Expression levels of mRNA and proteins were measured for mitochondrial chaperones, intrinsic proteases, and components of electron-transport chains. Furthermore, we systematically analyzed metabolic phenotypes with a large panel of isogenic BXD inbred mouse strains and Genotype-Tissue Expression (GTEx) data.
Results
In VAT, expression of mitochondrial chaperones and intrinsic proteases localized in inner and outer mitochondrial membranes was not associated with body mass index (BMI), except for the Lon protease homolog, mitochondrial, and the corresponding gene LONP1, which showed high-level expression in the VAT of overweight or obese individuals. Expression of LONP1 in VAT positively correlated with BMI. Analysis of the GTEx database revealed that elevation of LONP1 expression is associated with enhancement of genes involved in glucose and lipid metabolism in VAT. Mice with higher Lonp1 expression in adipose tissue had better systemic glucose metabolism than mice with lower Lonp1 expression.
Conclusion
Expression of mitochondrial LONP1, which is involved in the mitochondrial quality control stress response, was elevated in the VAT of obese individuals. In a bioinformatics analysis, high LONP1 expression in VAT was associated with enhanced glucose and lipid metabolism.

Citations

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  • LONP1 ameliorates liver injury and improves gluconeogenesis dysfunction in acute-on-chronic liver failure
    Muchen Wu, Jing Wu, Kai Liu, Minjie Jiang, Fang Xie, Xuehong Yin, Jushan Wu, Qinghua Meng
    Chinese Medical Journal.2024; 137(2): 190.     CrossRef
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    Jiangnan Zhang, Wenliang Qiao, Youfu Luo
    Medicinal Research Reviews.2023; 43(2): 399.     CrossRef
  • Effects of Obesity and Calorie Restriction on Cancer Development
    Ekaterina Sergeeva, Tatiana Ruksha, Yulia Fefelova
    International Journal of Molecular Sciences.2023; 24(11): 9601.     CrossRef
  • Mitochondrial Dysfunction Associated with mtDNA in Metabolic Syndrome and Obesity
    Natalia Todosenko, Olga Khaziakhmatova, Vladimir Malashchenko, Kristina Yurova, Maria Bograya, Maria Beletskaya, Maria Vulf, Natalia Gazatova, Larisa Litvinova
    International Journal of Molecular Sciences.2023; 24(15): 12012.     CrossRef
  • Down‐regulation of Lon protease 1 lysine crotonylation aggravates mitochondrial dysfunction in polycystic ovary syndrome
    Yuan Xie, Shuwen Chen, Zaixin Guo, Ying Tian, Xinyu Hong, Penghui Feng, Qiu Xie, Qi Yu
    MedComm.2023;[Epub]     CrossRef
  • The mitochondrial unfolded protein response: A multitasking giant in the fight against human diseases
    Zixin Zhou, Yumei Fan, Ruikai Zong, Ke Tan
    Ageing Research Reviews.2022; 81: 101702.     CrossRef
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Thyroid
A Multicenter, Randomized, Controlled Trial for Assessing the Usefulness of Suppressing Thyroid Stimulating Hormone Target Levels after Thyroid Lobectomy in Low to Intermediate Risk Thyroid Cancer Patients (MASTER): A Study Protocol
Eun Kyung Lee, Yea Eun Kang, Young Joo Park, Bon Seok Koo, Ki-Wook Chung, Eu Jeong Ku, Ho-Ryun Won, Won Sang Yoo, Eonju Jeon, Se Hyun Paek, Yong Sang Lee, Dong Mee Lim, Yong Joon Suh, Ha Kyoung Park, Hyo-Jeong Kim, Bo Hyun Kim, Mijin Kim, Sun Wook Kim, Ka Hee Yi, Sue K. Park, Eun-Jae Jung, June Young Choi, Ja Seong Bae, Joon Hwa Hong, Kee-Hyun Nam, Young Ki Lee, Hyeong Won Yu, Sujeong Go, Young Mi Kang, MASTER study group
Endocrinol Metab. 2021;36(3):574-581.   Published online May 26, 2021
DOI: https://doi.org/10.3803/EnM.2020.943
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AbstractAbstract PDFPubReader   ePub   
Background
Postoperative thyroid stimulating hormone (TSH) suppression therapy is recommended for patients with intermediate- and high-risk differentiated thyroid cancer to prevent the recurrence of thyroid cancer. With the recent increase in small thyroid cancer cases, the extent of resection during surgery has generally decreased. Therefore, questions have been raised about the efficacy and long-term side effects of TSH suppression therapy in patients who have undergone a lobectomy.
Methods
This is a multicenter, prospective, randomized, controlled clinical trial in which 2,986 patients with papillary thyroid cancer are randomized into a high-TSH group (intervention) and a low-TSH group (control) after having undergone a lobectomy. The principle of treatment includes a TSH-lowering regimen aimed at TSH levels between 0.3 and 1.99 μIU/mL in the low-TSH group. The high-TSH group targets TSH levels between 2.0 and 7.99 μIU/mL. The dose of levothyroxine will be adjusted at each visit to maintain the target TSH level. The primary outcome is recurrence-free survival, as assessed by neck ultrasound every 6 to 12 months. Secondary endpoints include disease-free survival, overall survival, success rate in reaching the TSH target range, the proportion of patients with major cardiovascular diseases or bone metabolic disease, the quality of life, and medical costs. The follow-up period is 5 years.
Conclusion
The results of this trial will contribute to establishing the optimal indication for TSH suppression therapy in low-risk papillary thyroid cancer patients by evaluating the benefit and harm of lowering TSH levels in terms of recurrence, metabolic complications, costs, and quality of life.

Citations

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  • Effect of thyroid-stimulating hormone suppression on quality of life in thyroid lobectomy patients: interim analysis of a multicenter, randomized controlled trial in low- to intermediate-risk thyroid cancer patients (MASTER study)
    Ja Kyung Lee, Eu Jeong Ku, Su-jin Kim, Woochul Kim, Jae Won Cho, Kyong Yeun Jung, Hyeong Won Yu, Yea Eun Kang, Mijin Kim, Hee Kyung Kim, Junsun Ryu, June Young Choi
    Annals of Surgical Treatment and Research.2024; 106(1): 19.     CrossRef
  • Clinical impact of coexistent chronic lymphocytic thyroiditis on central lymph node metastasis in low- to intermediate-risk papillary thyroid carcinoma: The MASTER study
    Da Beom Heo, Ho-Ryun Won, Kyung Tae, Yea Eun Kang, Eonju Jeon, Yong Bae Ji, Jae Won Chang, June Young Choi, Hyeong Won Yu, Eu Jeong Ku, Eun Kyung Lee, Mijin Kim, Jun-Ho Choe, Bon Seok Koo
    Surgery.2024; 175(4): 1049.     CrossRef
  • Dynamic Changes in Treatment Response af-ter 131I in Differentiated Thyroid Cancer and Their Relationship with Recurrence Risk Stratification and TNM Staging
    璐 狄
    Advances in Clinical Medicine.2024; 14(03): 1083.     CrossRef
  • ASO Author Reflections: Active Surveillance may be Possible in Patients with T1b Papillary Thyroid Carcinoma Over 55 Years of Age Without High-Risk Features on Preoperative Examinations
    Ho-Ryun Won, Eonju Jeon, Da Beom Heo, Jae Won Chang, Minho Shong, Je Ryong Kim, Hyemi Ko, Yea Eun Kang, Hyon-Seung Yi, Ju Hee Lee, Kyong Hye Joung, Ji Min Kim, Younju Lee, Sung-Woo Kim, Young Ju Jeong, Yong Bae Ji, Kyung Tae, Bon Seok Koo
    Annals of Surgical Oncology.2023; 30(4): 2254.     CrossRef
  • Outcomes and Trends of Treatments in High‐Risk Differentiated Thyroid Cancer
    Arash Abiri, Khodayar Goshtasbi, Sina J. Torabi, Edward C. Kuan, William B. Armstrong, Tjoson Tjoa, Yarah M. Haidar
    Otolaryngology–Head and Neck Surgery.2023; 168(4): 745.     CrossRef
  • Current Controversies in Low-Risk Differentiated Thyroid Cancer: Reducing Overtreatment in an Era of Overdiagnosis
    Timothy M Ullmann, Maria Papaleontiou, Julie Ann Sosa
    The Journal of Clinical Endocrinology & Metabolism.2023; 108(2): 271.     CrossRef
  • Age-Dependent Clinicopathological Characteristics of Patients with T1b Papillary Thyroid Carcinoma: Implications for the Possibility of Active Surveillance
    Ho-Ryun Won, Eonju Jeon, Da Beom Heo, Jae Won Chang, Minho Shong, Je Ryong Kim, Hyemi Ko, Yea Eun Kang, Hyon-Seung Yi, Ju Hee Lee, Kyong Hye Joung, Ji Min Kim, Younju Lee, Sung-Woo Kim, Young Ju Jeong, Yong Bae Ji, Kyung Tae, Bon Seok Koo
    Annals of Surgical Oncology.2023; 30(4): 2246.     CrossRef
  • Potential impact of obesity on the aggressiveness of low- to intermediate-risk papillary thyroid carcinoma: results from a MASTER cohort study
    Mijin Kim, Yae Eun Kang, Young Joo Park, Bon Seok Koo, Eu Jeong Ku, June Young Choi, Eun Kyung Lee, Bo Hyun Kim
    Endocrine.2023; 82(1): 134.     CrossRef
  • Differentiated thyroid cancer: a focus on post-operative thyroid hormone replacement and thyrotropin suppression therapy
    Benjamin J. Gigliotti, Sina Jasim
    Endocrine.2023; 83(2): 251.     CrossRef
  • Thyroid stimulating hormone suppression and recurrence after thyroid lobectomy for papillary thyroid carcinoma
    Mi Rye Bae, Sung Hoon Nam, Jong-Lyel Roh, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim
    Endocrine.2022; 75(2): 487.     CrossRef
  • The Concept of Economic Evaluation and Its Application in Thyroid Cancer Research
    Kyungsik Kim, Mijin Kim, Woojin Lim, Bo Hyun Kim, Sue K. Park
    Endocrinology and Metabolism.2021; 36(4): 725.     CrossRef
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Clinical Study
Protocol for a Korean Multicenter Prospective Cohort Study of Active Surveillance or Surgery (KoMPASS) in Papillary Thyroid Microcarcinoma
Min Ji Jeon, Yea Eun Kang, Jae Hoon Moon, Dong Jun Lim, Chang Yoon Lee, Yong Sang Lee, Sun Wook Kim, Min-Hee Kim, Bo Hyun Kim, Ho-Cheol Kang, Minho Shong, Sun Wook Cho, Won Bae Kim
Endocrinol Metab. 2021;36(2):359-364.   Published online March 23, 2021
DOI: https://doi.org/10.3803/EnM.2020.890
Correction in: Endocrinol Metab 2022;37(1):181
  • 5,799 View
  • 202 Download
  • 17 Web of Science
  • 17 Crossref
AbstractAbstract PDFPubReader   ePub   
Background
A Korean Multicenter Prospective cohort study of Active Surveillance or Surgery (KoMPASS) for papillary thyroid microcarcinomas (PTMCs) has been initiated. The aim is to compare clinical outcomes between active surveillance (AS) and an immediate lobectomy for low-risk PTMCs. We here outline the detailed protocol for this study.
Methods
Adult patients with a cytopathologically confirmed PTMC sized 6.0 to 10.0 mm by ultrasound (US) will be included. Patients will be excluded if they have a suspicious extra-thyroidal extension or metastasis of a PTMC or multiple thyroid nodules or other thyroid diseases which require a total thyroidectomy. Printed material describing the prognosis of PTMCs, and the pros and cons of each management option, will be provided to eligible patients to select their preferred intervention. For the AS group, thyroid US, thyroid function, and quality of life (QoL) parameters will be monitored every 6 months during the first year, and then annually thereafter. Disease progression will be defined as a ≥3 mm increase in maximal diameter of a PTMC, or the development of new thyroid cancers or metastases. If progression is detected, patients should undergo appropriate surgery. For the lobectomy group, a lobectomy with prophylactic central neck dissection will be done within 6 months. After initial surgery, thyroid US, thyroid function, serum thyroglobulin (Tg), anti-Tg antibody, and QoL parameters will be monitored every 6 months during the first year and annually thereafter. Disease progression will be defined in these cases as the development of new thyroid cancers or metastases.
Conclusion
KoMPASS findings will help to confirm the role of AS, and develop individualized management strategies, for low-risk PTMCs.

Citations

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  • Active Surveillance for Low-Risk Thyroid Cancers: A Review of Current Practice Guidelines
    Min Joo Kim, Jae Hoon Moon, Eun Kyung Lee, Young Shin Song, Kyong Yeun Jung, Ji Ye Lee, Ji-hoon Kim, Kyungsik Kim, Sue K. Park, Young Joo Park
    Endocrinology and Metabolism.2024; 39(1): 47.     CrossRef
  • It Is Time to Understand the Additional Benefits of Active Surveillance for Low-Risk Papillary Thyroid Carcinoma
    Kyeong Jin Kim
    Endocrinology and Metabolism.2024; 39(1): 95.     CrossRef
  • Active Surveillance for Low-Risk Papillary Thyroid Carcinoma as an Acceptable Management Option with Additional Benefits: A Comprehensive Systematic Review
    Jee Hee Yoon, Wonsuk Choi, Ji Yong Park, A Ram Hong, Hee Kyung Kim, Ho-Cheol Kang
    Endocrinology and Metabolism.2024; 39(1): 152.     CrossRef
  • Active Surveillance for Low-Risk Papillary Thyroid Carcinoma as an Acceptable Management Option with Additional Benefits: A Comprehensive Systematic Review
    Jee Hee Yoon, Wonsuk Choi, Ji Yong Park, A Ram Hong, Hee Kyung Kim, Ho-Cheol Kang
    Endocrinology and Metabolism.2024; 39(1): 152.     CrossRef
  • Thyroid‐Stimulating Hormone, Age, and Tumor Size are Risk Factors for Progression During Active Surveillance of Low‐Risk Papillary Thyroid Microcarcinoma in Adults
    Yasuhiro Ito, Akira Miyauchi, Makoto Fujishima, Takuya Noda, Tsutomu Sano, Takahiro Sasaki, Taketoshi Kishi, Tomohiko Nakamura
    World Journal of Surgery.2023; 47(2): 392.     CrossRef
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    Mitsuyoshi Hirokawa, Manon Auger, Chan Kwon Jung, Fabiano Mesquita Callegari
    Cancer Cytopathology.2023; 131(7): 415.     CrossRef
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    Do Joon Park
    Endocrinology and Metabolism.2023; 38(1): 69.     CrossRef
  • Lower Thyroid Cancer Mortality in Patients Detected by Screening: A Meta-Analysis
    Shinje Moon, Young Shin Song, Kyong Yeun Jung, Eun Kyung Lee, Young Joo Park
    Endocrinology and Metabolism.2023; 38(1): 93.     CrossRef
  • Long-Term Outcomes of Active Surveillance and Immediate Surgery for Adult Patients with Low-Risk Papillary Thyroid Microcarcinoma: 30-Year Experience
    Akira Miyauchi, Yasuhiro Ito, Makoto Fujishima, Akihiro Miya, Naoyoshi Onoda, Minoru Kihara, Takuya Higashiyama, Hiroo Masuoka, Shiori Kawano, Takahiro Sasaki, Mitsushige Nishikawa, Shuji Fukata, Takashi Akamizu, Mitsuru Ito, Eijun Nishihara, Mako Hisakad
    Thyroid®.2023; 33(7): 817.     CrossRef
  • Active Surveillance Outcomes of Patients with Low-Risk Papillary Thyroid Microcarcinoma According to Levothyroxine Treatment Status
    Masashi Yamamoto, Akira Miyauchi, Yasuhiro Ito, Makoto Fujishima, Takahiro Sasaki, Takumi Kudo
    Thyroid®.2023; 33(10): 1182.     CrossRef
  • Cost-Effectiveness of Active Surveillance Compared to Early Surgery of Small Papillary Thyroid Cancer: A Retrospective Study on a Korean Population
    Han-Sang Baek, Jeonghoon Ha, Kwangsoon Kim, Jaseong Bae, Jeong Soo Kim, Sungju Kim, Dong-Jun Lim, Chulmin Kim
    Journal of Korean Medical Science.2023;[Epub]     CrossRef
  • Optimal Cutoff Values of the Contact Angle of Tumor on Sonography System for Predicting Extrathyroidal Extension of Papillary Thyroid Carcinoma by Tumor Location
    Ik Beom Shin, Do Hoon Koo, Dong Sik Bae
    Clinical Medicine Insights: Oncology.2023;[Epub]     CrossRef
  • Thermal ablation for papillary thyroid microcarcinoma located in the isthmus: a study with 3 years of follow-up
    Lin Zheng, Fang-yi Liu, Jie Yu, Zhi-gang Cheng, Xiao-ling Yu, Xiao-cong Dong, Zhi-yu Han, Ping Liang
    Future Oncology.2022; 18(4): 471.     CrossRef
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    Elisa Pasqual, Julie Ann Sosa, Yingxi Chen, Sara J. Schonfeld, Amy Berrington de González, Cari M. Kitahara
    Thyroid.2022; 32(4): 397.     CrossRef
  • Management of Low-Risk Thyroid Cancers: Is Active Surveillance a Valid Option? A Systematic Review of the Literature
    Renato Patrone, Nunzio Velotti, Stefania Masone, Alessandra Conzo, Luigi Flagiello, Chiara Cacciatore, Marco Filardo, Vincenza Granata, Francesco Izzo, Domenico Testa, Stefano Avenia, Alessandro Sanguinetti, Andrea Polistena, Giovanni Conzo
    Journal of Clinical Medicine.2021; 10(16): 3569.     CrossRef
  • Cost-Effectiveness Analysis of Active Surveillance Compared to Early Surgery in Small Papillary Thyroid Cancer: A Systemic Review
    Han-sang Baek, Chai-ho Jeong, Jeonghoon Ha, Ja-Seong Bae, Jeong-soo Kim, Dong-Jun Lim, Chul-Min Kim
    Cancer Management and Research.2021; Volume 13: 6721.     CrossRef
  • Active Surveillance as an Effective Management Option for Low-Risk Papillary Thyroid Microcarcinoma
    Min Ji Jeon, Won Gu Kim, Tae Yong Kim, Young Kee Shong, Won Bae Kim
    Endocrinology and Metabolism.2021; 36(4): 717.     CrossRef
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Clinical Study
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Seon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yi
Endocrinol Metab. 2018;33(3):380-386.   Published online September 18, 2018
DOI: https://doi.org/10.3803/EnM.2018.33.3.380
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AbstractAbstract PDFPubReader   ePub   
Background

Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing.

Methods

We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function.

Results

Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software.

Conclusion

We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.

Citations

Citations to this article as recorded by  
  • Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
    Xiu-Li Song, Li-Yuan Peng, Dao-Wen Wang, Hong Wang
    World Journal of Clinical Cases.2022; 10(20): 6936.     CrossRef
  • Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia
    Ricardo Fernandes, C J Jordan, Colin Driver
    Veterinary Record Case Reports.2019;[Epub]     CrossRef
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Clinical Study
The Role of Circulating Slit2, the One of the Newly Batokines, in Human Diabetes Mellitus
Yea Eun Kang, Sorim Choung, Ju Hee Lee, Hyun Jin Kim, Bon Jeong Ku
Endocrinol Metab. 2017;32(3):383-388.   Published online September 18, 2017
DOI: https://doi.org/10.3803/EnM.2017.32.3.383
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  • 19 Web of Science
  • 17 Crossref
AbstractAbstract PDFPubReader   
Background

Slit2 is a new secreted protein from adipose tissue that improves glucose hemostasis in mice; however, there is no study about the serum levels and precise role of Slit2 in human. The aim of this study is to explore the serum level of Slit2 in human, and to identify the role of Slit2 in diabetes mellitus (DM).

Methods

The participants of this study consist of 38 subjects with newly diagnosed DM, and 75 healthy subjects as a control group. Serum Slit2 levels were measured using an enzyme-linked immunosorbent assay. Relationship between circulating Slit2 and diabetic related factors was investigated in diabetic group compared with non-diabetic group. Additionally, the correlations between the serum level of Slit2 and diverse metabolic parameters were analyzed.

Results

Circulating Slit2 level was more decreased in diabetic group than in control group, but there was no significant difference statistically. Interestingly, serum levels of Slit2 were significantly negatively correlated to the serum concentrations of fasting glucose (coefficient r=–0.246, P=0.008), the serum concentrations of postprandial glucose (coefficient r=–0.233, P=0.017), and glycosylated hemoglobin (HbA1c; coefficient r=–0.357, P<0.001).

Conclusion

From our study, the first report of circulating Slit2 levels in human, circulating Slit2 level significantly negatively correlated with serum glucose and HbA1c. Our results suggest that the circulating Slit2 may play a role in maintainence of glucose homeostasis in human, even though exact contribution and mechanism are not yet known.

Citations

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  • Brown adipose tissue-derived metabolites and their role in regulating metabolism
    Khanyisani Ziqubu, Phiwayinkosi V. Dludla, Sihle E. Mabhida, Babalwa U. Jack, Susanne Keipert, Martin Jastroch, Sithandiwe E. Mazibuko-Mbeje
    Metabolism.2024; 150: 155709.     CrossRef
  • An update on the secretory functions of brown, white, and beige adipose tissue: Towards therapeutic applications
    Zeinab Ghesmati, Mohsen Rashid, Shabnam Fayezi, Frank Gieseler, Effat Alizadeh, Masoud Darabi
    Reviews in Endocrine and Metabolic Disorders.2024; 25(2): 279.     CrossRef
  • The integrated bioinformatic analysis identifies immune microenvironment-related potential biomarkers for patients with gestational diabetes mellitus
    Jie-ling Chen, Hui-fang Dai, Xin-chen Kan, Jie Wu, Hong-Wu Chen
    Frontiers in Immunology.2024;[Epub]     CrossRef
  • Adipokines from white adipose tissue in regulation of whole body energy homeostasis
    Bijayashree Sahu, Naresh C. Bal
    Biochimie.2023; 204: 92.     CrossRef
  • The Role of Slit-2 in Gestational Diabetes Mellitus and Its Effect on Pregnancy Outcome
    Yan Wang, Shihua Zhao, Wei Peng, Ying Chen, Jingwei Chi, Kui Che, Yangang Wang
    Frontiers in Endocrinology.2022;[Epub]     CrossRef
  • The Heartwarming Effect of Brown Adipose Tissue
    Kelsey M. Pinckard, Kristin I. Stanford
    Molecular Pharmacology.2022; 102(1): 39.     CrossRef
  • New players of the adipose secretome: Therapeutic opportunities and challenges
    Laetitia Coassolo, Niels Banhos Dannieskiold-Samsøe, Meng Zhao, Hobson Allen, Katrin J. Svensson
    Current Opinion in Pharmacology.2022; 67: 102302.     CrossRef
  • Serum CD14 concentration is associated with obesity and insulin resistance in non-diabetic individuals
    Yea Eun Kang, Kyong Hye Joung, Ji Min Kim, Ju Hee Lee, Hyun Jin Kim, Bon Jeong Ku
    Journal of International Medical Research.2022; 50(10): 030006052211300.     CrossRef
  • Brown/Beige adipose tissues and the emerging role of their secretory factors in improving metabolic health: The batokines
    Bilal Ahmad, Muhammad Sufyan Vohra, Mansab Ali Saleemi, Christopher J. Serpell, Isabel Lim Fong, Eng Hwa Wong
    Biochimie.2021; 184: 26.     CrossRef
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    Bruna B. Brandão, Ankita Poojari, Atefeh Rabiee
    International Journal of Molecular Sciences.2021; 22(11): 5906.     CrossRef
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    Camilla Scheele, Christian Wolfrum
    Endocrine Reviews.2020; 41(1): 53.     CrossRef
  • Development of a Cell-Based Assay for the Detection of Neutralizing Antibodies to PF-06730512 Using Homogenous Time-Resolved Fluorescence
    Michael Luong, Ying Wang, Stephen P. Berasi, Janet E. Buhlmann, Hongying Yang, Boris Gorovits
    The AAPS Journal.2020;[Epub]     CrossRef
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    Stefania Carobbio, Anne-Claire Guénantin, Isabella Samuelson, Myriam Bahri, Antonio Vidal-Puig
    Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids.2019; 1864(1): 37.     CrossRef
  • Serum R-Spondin 1 Is a New Surrogate Marker for Obesity and Insulin Resistance
    Yea Eun Kang, Ji Min Kim, Hyon-Seung Yi, Kyong Hye Joung, Ju Hee Lee, Hyun Jin Kim, Bon Jeong Ku
    Diabetes & Metabolism Journal.2019; 43(3): 368.     CrossRef
  • Deletion of Robo4 prevents high‐fat diet‐induced adipose artery and systemic metabolic dysfunction
    Tam T. T. Phuong, Ashley E. Walker, Grant D. Henson, Daniel R. Machin, Dean Y. Li, Anthony J. Donato, Lisa A. Lesniewski
    Microcirculation.2019;[Epub]     CrossRef
  • Adipose Tissue-Derived Signatures for Obesity and Type 2 Diabetes: Adipokines, Batokines and MicroRNAs
    Min-Woo Lee, Mihye Lee, Kyoung-Jin Oh
    Journal of Clinical Medicine.2019; 8(6): 854.     CrossRef
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    Katarina Klepac, Anastasia Georgiadi, Matthias Tschöp, Stephan Herzig
    Molecular Aspects of Medicine.2019; 68: 90.     CrossRef
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Clinical Study
The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome
Younghak Lee, Hyon-Seung Yi, Hae Ri Kim, Kyong Hye Joung, Yea Eun Kang, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong
Endocrinol Metab. 2017;32(3):353-359.   Published online September 18, 2017
DOI: https://doi.org/10.3803/EnM.2017.32.3.353
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AbstractAbstract PDFPubReader   
Background

Cushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined.

Methods

A retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records.

Results

Eosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome.

Conclusion

Smaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome.

Citations

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  • Association between Eosinophil Count and Cortisol Concentrations in Equids Admitted in the Emergency Unit with Abdominal Pain
    María Villalba-Orero, María Dolores Contreras-Aguilar, Jose Joaquín Cerón, Beatriz Fuentes-Romero, Marta Valero-González, María Martín-Cuervo
    Animals.2024; 14(1): 164.     CrossRef
  • Inverse relationship between eosinophil profiles and serum glucose concentration in dogs with naturally occurring hypercortisolism
    Jimin Oh, Dohee Lee, Taesik Yun, Yoonhoi Koo, Yeon Chae, Mhan-Pyo Yang, Byeong-Teck Kang, Hakhyun Kim
    Domestic Animal Endocrinology.2022; 80: 106727.     CrossRef
  • Serum Cortisol and Its Correlation with Leucocyte Profile and Circulating Lipids in Donkeys (Equus asinus)
    Daniela Alberghina, Alessandra Statelli, Vincenzo Monteverde, Irene Vazzana, Giuseppe Cascone, Michele Panzera
    Animals.2022; 12(7): 841.     CrossRef
  • Changes in leukocytes and CRP in different stages of major depression
    Deepti Singh, Paul C. Guest, Henrik Dobrowolny, Veronika Vasilevska, Gabriela Meyer-Lotz, Hans-Gert Bernstein, Katrin Borucki, Alexandra Neyazi, Bernhard Bogerts, Roland Jacobs, Johann Steiner
    Journal of Neuroinflammation.2022;[Epub]     CrossRef
  • HIF1α is a direct regulator of steroidogenesis in the adrenal gland
    Deepika Watts, Johanna Stein, Ana Meneses, Nicole Bechmann, Ales Neuwirth, Denise Kaden, Anja Krüger, Anupam Sinha, Vasileia Ismini Alexaki, Luis Gustavo Perez-Rivas, Stefan Kircher, Antoine Martinez, Marily Theodoropoulou, Graeme Eisenhofer, Mirko Peitz
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    Valeria Hasenmajer, Emilia Sbardella, Francesca Sciarra, Marianna Minnetti, Andrea M. Isidori, Mary Anna Venneri
    Trends in Endocrinology & Metabolism.2020; 31(9): 655.     CrossRef
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Obesity and Metabolism
Plasma Adiponectin Levels in Elderly Patients with Prediabetes
Si Eun Kong, Yea Eun Kang, Kyong Hye Joung, Ju Hee Lee, Hyun Jin Kim, Bon Jeong Ku
Endocrinol Metab. 2015;30(3):326-333.   Published online August 4, 2015
DOI: https://doi.org/10.3803/EnM.2015.30.3.326
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  • 7 Web of Science
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AbstractAbstract PDFPubReader   
Background

The significance of adiponectin levels in elderly individuals with prediabetes has yet to be determined. Thus, the present study was performed to evaluate the relationships between adiponectin levels and anthropometric variables, body composition parameters, insulin sensitivity, and lipid profiles in elderly prediabetic patients.

Methods

The present study included 120 subjects with prediabetes who were >65 years of age and were selected from among 1,993 subjects enrolled in the Korea Rural Genomic Cohort Study. All subjects underwent a 75 g oral glucose tolerance test and tests for measurement of insulin sensitivity. All diagnoses of prediabetes satisfied the criteria of the American Diabetes Association.

Results

Plasma adiponectin levels were lower in elderly prediabetic subjects than elderly subjects with normal glucose tolerance (P<0.01) as well as in elderly prediabetic patients with metabolic syndrome (MetS) than in those without MetS (P<0.02). When the subjects were categorized into two groups according to plasma adiponectin levels, the waist-to-hip ratio and 2-hour insulin levels were significantly lower in individuals with high plasma adiponectin levels than in those with low plasma adiponectin levels. Additionally, the plasma adiponectin levels of elderly prediabetic subject were inversely correlated with body mass index (BMI), waist circumference (WC), waist-to-hip ratio, visceral fat, visceral fat ratio, and 2-hour insulin levels.

Conclusion

The present findings demonstrated that the major factors correlated with adiponectin levels in elderly prediabetic subjects were BMI, WC, waist-to-hip ratio, visceral fat, visceral fat ratio, and 2-hour insulin levels.

Citations

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  • Differential Association of Selected Adipocytokines, Adiponectin, Leptin, Resistin, Visfatin and Chemerin, with the Pathogenesis and Progression of Type 2 Diabetes Mellitus (T2DM) in the Asir Region of Saudi Arabia: A Case Control Study
    Mohammad Muzaffar Mir, Rashid Mir, Mushabab Ayed Abdullah Alghamdi, Javed Iqbal Wani, Zia Ul Sabah, Mohammed Jeelani, Vijaya Marakala, Shahzada Khalid Sohail, Mohamed O’haj, Muffarah Hamid Alharthi, Mohannad Mohammad S. Alamri
    Journal of Personalized Medicine.2022; 12(5): 735.     CrossRef
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    Norimitsu Murai, Naoko Saito, Sayuri Nii, Yuto Nishikawa, Asami Suzuki, Eriko Kodama, Tatsuya Iida, Kentaro Mikura, Hideyuki Imai, Mai Hashizume, Yasuyoshi Kigawa, Rie Tadokoro, Chiho Sugisawa, Kei Endo, Toru Iizaka, Fumiko Otsuka, Shun Ishibashi, Shoichi
    Hypertension Research.2021; 44(11): 1515.     CrossRef
  • Association of Adiponectin and rs1501299 of the ADIPOQ Gene with Prediabetes in Jordan
    Mahmoud Alfaqih, Faheem Al-Mughales, Othman Al-Shboul, Mohammad Al Qudah, Yousef Khader, Muhammad Al-Jarrah
    Biomolecules.2018; 8(4): 117.     CrossRef
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Review Article
Thyroid
Mitochondrial Energy Metabolism and Thyroid Cancers
Junguee Lee, Joon Young Chang, Yea Eun Kang, Shinae Yi, Min Hee Lee, Kyong Hye Joung, Kun Soon Kim, Minho Shong
Endocrinol Metab. 2015;30(2):117-123.   Published online June 30, 2015
DOI: https://doi.org/10.3803/EnM.2015.30.2.117
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AbstractAbstract PDFPubReader   

Primary thyroid cancers including papillary, follicular, poorly differentiated, and anaplastic carcinomas show substantial differences in biological and clinical behaviors. Even in the same pathological type, there is wide variability in the clinical course of disease progression. The molecular carcinogenesis of thyroid cancer has advanced tremendously in the last decade. However, specific inhibition of oncogenic pathways did not provide a significant survival benefit in advanced progressive thyroid cancer that is resistant to radioactive iodine therapy. Accumulating evidence clearly shows that cellular energy metabolism, which is controlled by oncogenes and other tumor-related factors, is a critical factor determining the clinical phenotypes of cancer. However, the role and nature of energy metabolism in thyroid cancer remain unclear. In this article, we discuss the role of cellular energy metabolism, particularly mitochondrial energy metabolism, in thyroid cancer. Determining the molecular nature of metabolic remodeling in thyroid cancer may provide new biomarkers and therapeutic targets that may be useful in the management of refractory thyroid cancers.

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    Angelika Buczyńska, Maria Kościuszko, Adam Jacek Krętowski, Anna Popławska-Kita
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    Jaume Forés-Martos, Cesar Boullosa, David Rodrigo-Domínguez, Jon Sánchez-Valle, Beatriz Suay-García, Joan Climent, Antonio Falcó, Alfonso Valencia, Joan Anton Puig-Butillé, Susana Puig, Rafael Tabarés-Seisdedos
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Case Report
Bone Metabolism
A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets
Yea Eun Kang, Jun Hwa Hong, Jimin Kim, Kyong Hye Joung, Hyun Jin Kim, Bon Jeong Ku, Koon Soon Kim
Endocrinol Metab. 2014;29(2):195-201.   Published online June 26, 2014
DOI: https://doi.org/10.3803/EnM.2014.29.2.195
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  • 34 Download
  • 5 Web of Science
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AbstractAbstract PDFPubReader   

Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site mutation in the PHEX gene (c.663+1G>A) at the exon 5-intron 5 boundary. The patient had recently suffered from right thigh pain and an aggravated waddling gait. She also presented with very short stature, generalized bone pain, and muscle weakness. Despite low serum phosphate levels, her phosphate reabsorption rate was lower than normal. Additionally, her 1,25-dihydroxyvitamin D3 concentration was lower than normal, although FGF23 level was normal. After treatment with alfacalcidol and elemental phosphate, her rachitic symptoms subsided, and callus formation was observed in the fracture site on the right femur.

Citations

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  • A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
    In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
    Annals of Pediatric Endocrinology & Metabolism.2021; 26(2): 130.     CrossRef
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    Agnieszka Jędzura, Omar Bjanid, Piotr Adamczyk, Krzysztof Plesiński, Karolina Klimaszewska-Adamus, Maria Szczepańska
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    Won-Young Lee
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Endocrinol Metab : Endocrinology and Metabolism