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Endocrinology and Metabolism

Eun Yeong Mo, Ji Young Lee, Su Yeon Kim, Min Ji Kim, Eun Sook Kim, Seungok Lee, Je Ho Han, Sung Dae Moon
BACKGROUND: We previously reported a patient with congenital adrenal hyperplasia (CAH) with compound heterozygous mutations in the cytochrome P450 17A1 ( CYP17A1 ) gene. One allele had a p.His373Leu and the other a new p.Glu383fsX36 mutation. The aim of this study was to investigate the functional properties of a new allele present in a compound heterozygote of CYP17A1 . METHODS: To understand how p.His373Leu and p.Glu383fsX36 affect P450c17 enzymatic activity, wild type and mutant CYP17A1 cDNAs were cloned into flag-tagged pcDNA3 vector and introduced into human embryonic kidney cells 293T (HEK293T) cells...
September 2018: Endocrinology and Metabolism
Seok Woo Hong, Jinmi Lee, Hyemi Kwon, Se Eun Park, Eun Jung Rhee, Cheol Young Park, Ki Won Oh, Sung Woo Park, Won Young Lee
BACKGROUND: Emerging evidence suggests that sphingolipids may be involved in type 2 diabetes. However, the exact signaling defect through which disordered sphingolipid metabolism induces β-cell dysfunction remains unknown. The current study demonstrated that sphingosine-1-phosphate (S1P), the product of sphingosine kinase (SphK), is an essential factor for maintaining β-cell function and survival via regulation of mitochondrial action, as mediated by prohibitin (PHB). METHODS: We examined β-cell function and viability, as measured by mitochondrial function, in mouse insulinoma 6 (MIN6) cells in response to manipulation of cellular S1P and PHB levels...
September 2018: Endocrinology and Metabolism
Young Ah Lee, Sun Wook Cho, Ho Kyung Sung, Kyungsik Kim, Young Shin Song, Sin Je Moon, Jung Won Oh, Dal Lae Ju, Sooyeon Choi, Sang Hoon Song, Gi Jeong Cheon, Young Joo Park, Choong Ho Shin, Sue K Park, Jong Kwan Jun, June Key Chung
BACKGROUND: Iodine is an intrinsic element of thyroid hormone, which is essential for childhood growth and development. The Ideal Breast Milk (IBM) cohort study aims to evaluate the effects of maternal iodine status during pregnancy and lactation on maternal thyroid function, offspring growth and development, and offspring thyroid function. METHODS: The IBM cohort study recruited pregnant women from Seoul National University Hospital between June 2016 and August 2017, followed by enrollment of their offspring after delivery...
September 2018: Endocrinology and Metabolism
Dug Hyun Choi, Chan Hee Jung, Ji Oh Mok, Chul Hee Kim, Sung Koo Kang, Bo Yeon Kim
BACKGROUND: Sodium-glucose cotransporter-2 inhibitors (SGLT2i) are expected to improve the liver function of patients with non-alcoholic fatty liver disease (NAFLD) combined type 2 diabetes mellitus (T2DM) by its characteristic mechanism. This study was designed to investigate the effect of dapagliflozin, one of the SGLT2i, on the liver function of T2DM with NAFLD when combined with metformin. METHODS: Among patients who received dual oral hypoglycemic agents within the 3 months of diagnosing NAFLD, patients who had abnormal alanine aminotransferase (ALT) level (>40 IU/L) were included...
September 2018: Endocrinology and Metabolism
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
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...
September 2018: Endocrinology and Metabolism
Michael E Serafico, Joselita Rosario C Ulanday, Marites V Alibayan, Glen Melvin P Gironella, Leah A Perlas
BACKGROUND: Iodine deficiency (ID) has become a concern not only among pregnant women, but in women of childbearing age as well. In fact, a recent report suggested that women with moderate to severe ID may experience a significantly longer time to conceive. This study aimed to investigate iodine status in Filipino women of childbearing age. METHODS: The iodine status of 6,194 Filipino women aged 15 to 45 years old was assessed through urinary iodine analysis. A casual spot urine sample was collected from women in households participating in the eighth National Nutrition Survey conducted by the Food and Nutrition Research Institute...
September 2018: Endocrinology and Metabolism
Ji Sun Nam, Jung Woo Han, Sang Bae Lee, Ji Hong You, Min Jin Kim, Shinae Kang, Jong Suk Park, Chul Woo Ahn
BACKGROUND: Genetic variations in calpain-10 and adiponectin gene are known to influence insulin secretion and resistance in type 2 diabetes mellitus. Recently, several single nucleotide polymorphisms (SNPs) in calpain-10 and adiponectin gene have been reported to be associated with type 2 diabetes and various metabolic derangements. We investigated the associations between specific calpain-10 and adiponectin gene polymorphisms and Korean type 2 diabetes patients. METHODS: Overall, 249 type 2 diabetes patients and 131 non-diabetic control subjects were enrolled in this study...
September 2018: Endocrinology and Metabolism
Eun Hee Cho
No abstract text is available yet for this article.
September 2018: Endocrinology and Metabolism
Jakob Starup-Linde, Katrine Hygum, Bente Lomholt Langdahl
Type 2 diabetes (T2D) is associated with an increased risk of fracture, which has been reported in several epidemiological studies. However, bone mineral density in T2D is increased and underestimates the fracture risk. Common risk factors for fracture do not fully explain the increased fracture risk observed in patients with T2D. We propose that the pathogenesis of increased fracture risk in T2D is due to low bone turnover caused by osteocyte dysfunction resulting in bone microcracks and fractures. Increased levels of sclerostin may mediate the low bone turnover and may be a novel marker of increased fracture risk, although further research is needed...
September 2018: Endocrinology and Metabolism
Takenobu Katagiri, Sho Tsukamoto, Yutaka Nakachi, Mai Kuratani
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that is characterized by the formation of heterotopic bone tissues in soft tissues, such as skeletal muscle, ligament, and tendon. It is difficult to remove such heterotopic bones via internal medicine or invasive procedures. The identification of activin A receptor, type I (ACVR1)/ALK2 gene mutations associated with FOP has allowed the genetic diagnosis of FOP. The ACVR1/ALK2 gene encodes the ALK2 protein, which is a transmembrane kinase receptor in the transforming growth factor-β family...
September 2018: Endocrinology and Metabolism
Hoon Sung Choi, Hyang Ah Lee, Sang Wook Kim, Eun Hee Cho
This corrects the article on p. 273 in vol. 33, PMID: 29947182.
September 2018: Endocrinology and Metabolism
Jae Hoon Moon, Ji Hoon Kim, Eun Kyung Lee, Kyu Eun Lee, Sung Hye Kong, Yeo Koon Kim, Woo Jin Jeong, Chang Yoon Lee, Roh Eul Yoo, Yul Hwangbo, Young Shin Song, Min Joo Kim, Sun Wook Cho, Su Jin Kim, Eun Jae Chung, June Young Choi, Chang Hwan Ryu, You Jin Lee, Jeong Hun Hah, Yuh Seog Jung, Junsun Ryu, Yunji Hwang, Sue K Park, Ho Kyung Sung, Ka Hee Yi, Do Joon Park, Young Joo Park
This corrects the article on p. 278 in vol. 33, PMID: 29947183.
September 2018: Endocrinology and Metabolism
Megan C Moorer, Ryan C Riddle
Wnt/β-catenin signaling plays a critical role in the achievement of peak bone mass, affecting the commitment of mesenchymal progenitors to the osteoblast lineage and the anabolic capacity of osteoblasts depositing bone matrix. Recent studies suggest that this evolutionarily-conserved, developmental pathway exerts its anabolic effects in part by coordinating osteoblast activity with intermediary metabolism. These findings are compatible with the cloning of the gene encoding the low-density lipoprotein related receptor-5 (LRP5) Wnt co-receptor from a diabetes-susceptibility locus and the now well-established linkage between Wnt signaling and metabolism...
September 2018: Endocrinology and Metabolism
Sunyoung Kang, Seung Shin Park, Jae Hyun Bae, Kyu Eun Lee, Jung Hee Kim, Chan Soo Shin
No abstract text is available yet for this article.
September 2018: Endocrinology and Metabolism
Wann Jia Loh, Dawn Shao Ting Lim, Lih Ming Loh, Peng Chin Kek
BACKGROUND: The aim of this study was to investigate the factors associated with resolution of hypertension after adrenalectomy in patients with primary aldosteronism. A secondary aim was to describe our use of the contralateral ratio in adrenal venous sampling (AVS) in the setting of suboptimal successful cannulation rates. METHODS: A retrospective review of patients who underwent AVS followed by unilateral adrenalectomy for primary aldosteronism was performed...
September 2018: Endocrinology and Metabolism
Arkiath Veettil Raveendran, Anjali Deshpandae, Shashank R Joshi
Yoga originated in India more than 5,000 years ago and is a means of balancing and harmonizing the body, mind, and emotions. Yoga practice is useful in the management of various lifestyle diseases, including type 2 diabetes. Psycho-neuro-endocrine and immune mechanisms are involved in the beneficial effects of yoga on diabetes. Incorporation of yoga practice in daily life helps to attain glycaemic control and reduces the risk of complications in people with diabetes. In this review, we briefly describe the role of various yoga practices in the management of diabetes based on evidence from various clinical studies...
September 2018: Endocrinology and Metabolism
Hee Bok Kim, So Hyun Lim, Chang Gun Cho, Han Seok Choi
BACKGROUND: Vitamin D plays an important role in the immune response against infection. The purpose of the present study was to investigate the influence of vitamin D deficiency on the progression of otitis media (OM) using an experimental rat model. METHODS: Four-week-old male Sprague-Dawley rats (n=72) were divided into two groups based on their diet: a control diet group (n=36) and a vitamin D-deficient diet group (n=36). After 8 weeks of diet, experimental OM was induced by inoculation of non-typeable Haemophilus influenzae in the middle ear cavity...
June 2018: Endocrinology and Metabolism
Hosu Kim, Hye In Kim, Sun Wook Kim, Jaehoon Jung, Min Ji Jeon, Won Gu Kim, Tae Yong Kim, Hee Kyung Kim, Ho Cheol Kang, Ji Min Han, Yoon Young Cho, Tae Hyuk Kim, Jae Hoon Chung
BACKGROUND: Most patients with differentiated thyroid cancer (DTC) have a favorable prognosis. However, patients with DTC and initial distant metastasis have not been commonly found, and their clinical characteristics have seldom been reported. In this study, we analyzed the clinical features and prognosis of patients with DTC and initial distant metastasis in Korea. METHODS: We retrospectively reviewed the clinical data of 242 patients with DTC and initial distant metastasis treated from 1994 to 2013, collected from five tertiary hospitals in Korea...
June 2018: Endocrinology and Metabolism
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