- Adrenal gland
- Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
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Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim
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Endocrinol Metab. 2020;35(1):188-191. Published online March 19, 2020
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DOI: https://doi.org/10.3803/EnM.2020.35.1.188
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Abstract
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X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, subsequently leading to adrenomyeloneuropathy, cerebral adrenoleukodystrophy, and adrenal insufficiency. X-ALD frequently induces idiopathic Addison's disease in young male patients. Here, we confirmed the diagnosis of X-ALD in a young male patient with primary adrenal insufficiency, and identified a novel ABCD1 gene mutation (p.Trp664*, c.1991 G>A).
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- Ocular findings and genomics of X-linked recessive disorders: A review
Asima Hassan, Yaser R Mir, Raja A H Kuchay Indian Journal of Ophthalmology.2022; 70(7): 2386. CrossRef
- Bone Metabolism
- Association between Serum Fibroblast Growth Factor 21 Levels and Bone Mineral Density in Postmenopausal Women
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Hoon Sung Choi, Hyang Ah Lee, Sang-Wook Kim, Eun-Hee Cho
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Endocrinol Metab. 2018;33(2):273-277. Published online June 21, 2018
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DOI: https://doi.org/10.3803/EnM.2018.33.2.273
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- Background
Despite the beneficial effect of fibroblast growth factor 21 (FGF21) on metabolic disease, there are concerns about adverse effects on bone metabolism, supported by animal studies. However, a recent human study showed the positive association between serum FGF21 level and bone mineral density (BMD) in healthy premenopausal women. We undertook this study to examine the association between FGF21 level and BMD in healthy postmenopausal Korean women who are susceptible to osteoporosis. MethodsWe used data of 115 participants from a cohort of healthy postmenopausal women (>50 years old) to examine the association between serum FGF21 level and BMD. The clinical characteristics were obtained from the participants, and blood testing and serum FGF21 testing were undertaken. BMD of the lumbar spine, femoral neck and total hip area, and bone markers were used in the analyses. ResultsThe mean age of the participants was 60.2±7.2 years. Serum FGF21 levels showed negative correlation with BMD and T-scores in all three areas, but there were no statistically significant differences. Multivariate analyses with adjustment for age and body mass index also did not show significant association between serum FGF21 level and BMD. In addition, serum FGF21 level also showed no correlation with osteocalcin and C-telopeptide levels. ConclusionIn our study, serum FGF21 level showed no significant correlation with BMD and T-scores.
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- Effect of Fibroblast Growth Factor (FGF) 19 and 21 on Hip Geometry and Strength in Post-menopausal Osteoporosis (PMO)
EunJi Kim, Amelia. E. Moore, Dwight Dulnoan, Geeta Hampson Calcified Tissue International.2024;[Epub] CrossRef - Fibroblast growth factor 21 and bone homeostasis
Yan Tang, Mei Zhang Biomedical Journal.2023; 46(4): 100548. CrossRef - FGF21 negatively affects long-term female fertility in mice
Beat Moeckli, Thuy-Vy Pham, Florence Slits, Samuel Latrille, Andrea Peloso, Vaihere Delaune, Graziano Oldani, Stéphanie Lacotte, Christian Toso Heliyon.2022; 8(11): e11490. CrossRef - Potential role of fibroblast growth factor 21 in the deterioration of bone quality in impaired glucose tolerance
D. T. W. Lui, C. H. Lee, V. W. K. Chau, C. H. Y. Fong, K. M. Y. Yeung, J. K. Y. Lam, A. C. H. Lee, W. S. Chow, K. C. B. Tan, Y. C. Woo, K. S. L. Lam Journal of Endocrinological Investigation.2021; 44(3): 523. CrossRef - Skeletal Muscle and Bone – Emerging Targets of Fibroblast Growth Factor-21
Hui Sun, Matthew Sherrier, Hongshuai Li Frontiers in Physiology.2021;[Epub] CrossRef - Age‐related bone loss is associated with FGF21 but not IGFBP1 in healthy adults
Shuen Yee Lee, Kai Deng Fam, Kar Ling Chia, Margaret M. C. Yap, Jorming Goh, Kwee Poo Yeo, Eric P. H. Yap, Sanjay H. Chotirmall, Chin Leong Lim Experimental Physiology.2020; 105(4): 622. CrossRef - Chronic Kidney Disease Is Associated with Increased Plasma Levels of Fibroblast Growth Factors 19 and 21
Małgorzata Marchelek-Myśliwiec, Violetta Dziedziejko, Monika Nowosiad-Magda, Katarzyna Dołęgowska, Barbara Dołęgowska, Andrzej Pawlik, Krzysztof Safranow, Magda Wiśniewska, Joanna Stępniewska, Maciej Domański, Kazimierz Ciechanowski Kidney and Blood Pressure Research.2019; 44(5): 1207. CrossRef
- Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
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Eun-Hee Cho, Jae Woong Min, Sun Shim Choi, Hoon Sung Choi, Sang-Wook Kim
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Endocrinol Metab. 2017;32(2):296-301. Published online May 29, 2017
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DOI: https://doi.org/10.3803/EnM.2017.32.2.296
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Correction in: Endocrinol Metab 2021;36(2):468
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Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Whole-exome sequencing was performed and the effects of the identified mutations were assessed using bioinformatics tools, such as PolyPhen-2, SIFT, and in silico modeling. We identified two mutations: p.Leu30Pro and p.Ser383Leu. In silico analyses predicted that these mutations result in structural conformational changes, protein destabilization, and thermal instability. Our findings may inform future GCK-MODY diagnosis; furthermore, the two mutations detected in two Korean families with GCK-MODY improve our understanding of the genetic basis of the disease.
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- Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young
Tao Wang, Mengmeng Zhu, Yun Wang, Cheng Hu, Chen Fang, Ji Hu Endocrine.2023; 83(1): 92. CrossRef - Maturity-onset diabetes of the young in a large Portuguese cohort
Sílvia Santos Monteiro, Tiago da Silva Santos, Liliana Fonseca, Guilherme Assunção, Ana M. Lopes, Diana B. Duarte, Ana Rita Soares, Francisco Laranjeira, Isaura Ribeiro, Eugénia Pinto, Sónia Rocha, Sofia Barbosa Gouveia, María Eugenia Vazquez-Mosquera, Ma Acta Diabetologica.2022; 60(1): 83. CrossRef - Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options
Hazar Younis, Se Eun Ha, Brian G. Jorgensen, Arushi Verma, Seungil Ro Journal of Personalized Medicine.2022; 12(11): 1762. CrossRef - Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review
Kyung Mi Jang Precision and Future Medicine.2022; 6(4): 209. CrossRef - Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries
Martine Vaxillaire, Amélie Bonnefond, Stavros Liatis, Leila Ben Salem Hachmi, Aleksandra Jotic, Mathilde Boissel, Stefan Gaget, Emmanuelle Durand, Emmanuel Vaillant, Mehdi Derhourhi, Mickaël Canouil, Nicolas Larcher, Frédéric Allegaert, Rita Medlej, Asma Diabetes Research and Clinical Practice.2021; 171: 108553. CrossRef - Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi BMC Pediatrics.2021;[Epub] CrossRef - Gençlerin Erişkin Başlangıçlı Diyabeti (MODY) Sorumlu HNF4A, GCK ve HNF1 Gen Varyasyonlarının Dünya Genelinde Coğrafik Dağılımı
Deniz KANCA DEMİRCİ, Nurdan GÜL, İlhan SATMAN, Oguz OZTURK, Hülya YILMAZ AYDOĞAN Haliç Üniversitesi Fen Bilimleri Dergisi.2021; 4(1): 41. CrossRef - Undernutrition and suboptimal growth during the first year are associated with glycemia but not with insulin resistance in adulthood
Isabel Pereyra, Sandra López-Arana, Bernardo L. Horta Cadernos de Saúde Pública.2021;[Epub] CrossRef - Update on Monogenic Diabetes in Korea
Ye Seul Yang, Soo Heon Kwak, Kyong Soo Park Diabetes & Metabolism Journal.2020; 44(5): 627. CrossRef - The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)
Ken Munene Nkonge, Dennis Karani Nkonge, Teresa Njeri Nkonge Clinical Diabetes and Endocrinology.2020;[Epub] CrossRef - Novel deletion mutation in the glucokinase gene from a Korean man with GCK-MODY phenotype and situs inversus
Yun Kyung Cho, Eun-Hee Cho, Hoon Sung Choi, Sang-Wook Kim Diabetes Research and Clinical Practice.2018; 143: 263. CrossRef
- Serum Preadipocyte Factor 1 Levels Are Not Associated with Bone Mineral Density among Healthy Postmenopausal Korean Women
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Hoon Sung Choi, Sang-Wook Kim, Eun-Hee Cho
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Endocrinol Metab. 2017;32(1):124-128. Published online February 28, 2017
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DOI: https://doi.org/10.3803/EnM.2017.32.1.124
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- Background
Multipotent mesenchymal stem cells can differentiate into adipocytes or osteoblasts through closely regulated lineage-control processes. However, adipocyte precursor cells release preadipocyte factor 1 (Pref-1), which inhibits the differentiation of mesenchymal stem cells into mature adipocytes and osteoblasts. Previous studies have also reported an inverse association between Pref-1 levels and bone mineral density (BMD) among patients with anorexia nervosa. MethodsIn this retrospective study, we examined the correlations between Pref-1 levels and BMD among 124 healthy postmenopausal women (>50 years old). The patients had provided information regarding their clinical characteristics, and underwent blood testing and serum Pref-1 testing. ResultsThe subjects' mean age was 59.9±7.1 years and the median time since menopause onset was 9.1 years. A history of osteoporotic fracture was identified in 23 subjects (19%). Serum Pref-1 levels were not significantly correlated with BMD values at the lumbar spine (R2=0.038, P=0.109), femur neck (R2=0.017, P=0.869), and total hip (R2=0.041, P=0.09), and multivariate analyses with adjustment for age and body mass index also did not detect any significant correlations. Subgroup analyses according to a history of fracture also did not detect significant associations between Pref-1 levels and BMD values. ConclusionIn our study population, it does not appear that serum Pref-1 levels are significantly associated with BMD values and osteoporosis.
- Clinical Study
- Comparison of Age of Onset and Frequency of Diabetic Complications in the Very Elderly Patients with Type 2 Diabetes
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Bong-Ki Lee, Sang-Wook Kim, Daehee Choi, Eun-Hee Cho
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Endocrinol Metab. 2016;31(3):416-423. Published online August 26, 2016
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DOI: https://doi.org/10.3803/EnM.2016.31.3.416
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- Background
The prevalence of type 2 diabetes in elderly people has increased dramatically in the last few decades. This study was designed to clarify the clinical characteristics of type 2 diabetes in patients aged ≥80 years according to age of onset. MethodsWe reviewed the medical records of 289 patients aged ≥80 years with type 2 diabetes at the outpatient diabetes clinics of Kangwon National University Hospital from September 2010 to June 2014. We divided the patients into middle-age-onset diabetes (onset before 65 years of age) and elderly-onset diabetes (onset at 65+ years of age). ResultsThere were 141 male and 148 female patients. The patients had a mean age of 83.2±2.9 years and the mean duration of diabetes was 14.3±10.4 years. One hundred and ninety-nine patients had elderly-onset diabetes. The patients with elderly-onset diabetes had a significantly lower frequency of diabetic retinopathy and nephropathy, lower serum creatinine levels, lower glycated hemoglobin (HbA1c) levels, and similar coronary revascularization and cerebral infarction rates compared to those with middle-age-onset diabetes. There was no frequency difference in coronary revascularization and cerebral infarction and HbA1c levels between three subgroups (<5, 5 to 15, and ≥15 years) of diabetes duration in elderly onset diabetes. However, both in the elderly onset diabetes and middle-age-onset diabetes, the cumulative incidence of retinopathy was increasing rapidly according to the duration of diabetes. ConclusionWe report that individuals with elderly-onset diabetes have a lower frequency of diabetic retinopathy and nephropathy and similar cardiovascular complications compared to those with middle-age-onset diabetes.
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- Rescue of High Glucose Impairment of Cultured Human Osteoblasts Using Cinacalcet and Parathyroid Hormone
V. A. Shahen, A. Schindeler, M. S. Rybchyn, C. M. Girgis, B. Mulholland, R. S. Mason, I. Levinger, T. C. Brennan-Speranza Calcified Tissue International.2023; 112(4): 452. CrossRef - Factors Related to the Occurrence and Number of Chronic Diabetic Complications in Patients with Type 2 Diabetes Mellitus: Utilizing The National Health Insurance Service-National Health Screening Cohort in Korea, 2002~2015
Haejung Lee, Misoon Lee, Gaeun Park, Ah Reum Khang Journal of Korean Gerontological Nursing.2022; 24(1): 22. CrossRef - Prevalence of and Risk Factors for Diabetic Retinopathy and Diabetic Macular Edema in Patients with Early- and Late-Onset Diabetes Mellitus
Yu Wang, Zhong Lin, Gang Zhai, Xiao Xia Ding, Liang Wen, Dong Li, Bo Zou, Ke Mi Feng, Yuan Bo Liang, Cong Xie Ophthalmic Research.2022; 65(3): 293. CrossRef - Associations of Age at Diagnosis and Duration of Diabetes With Morbidity and Mortality Among Older Adults
Christine T. Cigolle, Caroline S. Blaum, Chen Lyu, Jinkyung Ha, Mohammed Kabeto, Judy Zhong JAMA Network Open.2022; 5(9): e2232766. CrossRef - Chart Review of Diagnostic Methods, Baseline Characteristics and Symptoms for European Patients with Pancreatic Cancer
Alfredo Carrato, Davide Melisi, Gerald Prager, Christoph B Westphalen, Anabel Ferreras, Nathalie D’Esquermes, Julien Taieb, Teresa M Mercadé Future Oncology.2021; 17(15): 1843. CrossRef - Distinction of cardiometabolic profiles among people ≥75 years with type 2 diabetes: a latent profile analysis
Antoine CHRISTIAENS, Michel P. HERMANS, Benoit BOLAND, Séverine HENRARD BMC Endocrine Disorders.2019;[Epub] CrossRef - Validity of diagnostic codes and estimation of prevalence of diabetic foot ulcers using a large electronic medical record database
Avivit Cahn, Talya Altaras, Tal Agami, Ori Liran, Colette E. Touaty, Michel Drahy, Rena Pollack, Itamar Raz, Gabriel Chodick, Inbar Zucker Diabetes/Metabolism Research and Reviews.2019;[Epub] CrossRef - Response: Comparison of Age of Onset and Frequency of Diabetic Complications in the Very Elderly Patients with Type 2 Diabetes (Endocrinol Metab2016;31:416-23, Bong-Ki Lee et al.)
Eun-Hee Cho Endocrinology and Metabolism.2017; 32(1): 142. CrossRef - Letter: Comparison of Age of Onset and Frequency of Diabetic Complications in the Very Elderly Patients with Type 2 Diabetes (Endocrinol Metab2016;31:416-23, Bong-Ki Lee et al.)
Mee Kyoung Kim Endocrinology and Metabolism.2017; 32(1): 140. CrossRef
- Clinical Study
- High Levels of Serum DPP-4 Activity Are Associated with Low Bone Mineral Density in Obese Postmenopausal Women
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Sang-Wook Kim, Eun-Hee Cho
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Endocrinol Metab. 2016;31(1):93-99. Published online March 16, 2016
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DOI: https://doi.org/10.3803/EnM.2016.31.1.93
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- Background
Dipeptidyl peptidase 4/CD26 (DPP-4) is a widely expressed cell surface serine protease. DPP-4 inhibitors, one of common anti-diabetic agents play a protective role in bone metabolism in recent studies. A soluble form of DPP-4 is found in serum, and exhibits DPP-4 enzymatic activity. However, the physiological role of serum or soluble DPP-4 and its relationship with DPP-4 enzymatic function remain poorly understood. The aims of current study were to determine the association between serum DPP-4 activity and bone mineral density (BMD) in postmenopausal women. MethodsWe recruited data and serum samples from 124 consecutive healthy postmenopausal women aged >50 years. We divided study subjects into obese (body mass index [BMI] ≥25 kg/m2) and non-obese (BMI <25 kg/m2) postmenopausal women and examined the correlation between serum DPP-4 activity and clinical variables in each groups. ResultsA total of 124 postmenopausal women was enrolled, with a mean age of 59.9±7.1 years. The mean BMI of the study patients was 24.4±2.8 kg/m2. Regarding bone turnover markers, serum DPP-4 activity was positively correlated with serum calcium concentrations, intact parathyroid hormone, and serum C-telopeptide levels in all of the study subjects. However, there was no association between serum DPP-4 activity and BMD in the spine or femoral neck in all of the study subjects. Serum DPP-4 activity was negatively correlated (R=−0.288, P=0.038) with BMD of the spine in obese postmenopausal women. ConclusionThis study demonstrated for the first time that serum soluble DPP-4 activity was negatively correlated with BMD in obese postmenopausal women.
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L. M. Pechmann, F. I. Pinheiro, V. F. C. Andrade, C. A. Moreira Diabetology & Metabolic Syndrome.2024;[Epub] CrossRef - Comparative evaluation of Sodium-glucose co-transporter-2 inhibitors and dipeptidyl peptidase-4 inhibitors influence on bone turnover markers in rats with experimental type 2 diabetes mellitus
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Guillaume Mabilleau, Béatrice Bouvard Expert Review of Endocrinology & Metabolism.2020; 15(6): 415. CrossRef - Soluble Dipeptidyl Peptidase-4 Levels Are Associated with Decreased Renal Function in Patients with Type 2 Diabetes Mellitus
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Thomas H. Ambrosi, Antonio Scialdone, Antonia Graja, Sabrina Gohlke, Anne-Marie Jank, Carla Bocian, Lena Woelk, Hua Fan, Darren W. Logan, Annette Schürmann, Luis R. Saraiva, Tim J. Schulz Cell Stem Cell.2017; 20(6): 771. CrossRef - The emerging role of bone marrow adipose tissue in bone health and dysfunction
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