1.De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.
Jung Eun MOON ; Su Jeong LEE ; Suk Hyun PARK ; Jinsup KIM ; Dong Kyu JIN ; Cheol Woo KO
Annals of Pediatric Endocrinology & Metabolism 2018;23(2):107-111
Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutations. This is the first case report of a novel activating variant of the CaSR gene in a neonate with congenital hypoparathyroidism with hypomagnesemia and hypercalciuria. We also report the 3-month follow-up management of the patient.
Calcium
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Follow-Up Studies
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Humans
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Hypercalciuria
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Hypocalcemia
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Hypoparathyroidism*
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Infant, Newborn*
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Mutation, Missense
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Receptors, Calcium-Sensing
2.Dronedarone hydrochloride enhances the bioactivity of endothelial progenitor cells via regulation of the AKT signaling pathway
Jian ZHANG ; Thi Hong VAN LE ; Vinoth Kumar RETHINESWARAN ; Yeon-Ju KIM ; Woong Bi JANG ; Seung Taek JI ; Thanh Truong GIANG LY ; Jong Seong HA ; Jisoo YUN ; Jae Hun CHEONG ; Jinsup JUNG ; Sang-Mo KWON
The Korean Journal of Physiology and Pharmacology 2021;25(5):459-466
Cardiovascular disease (CVD) and its complications are the leading cause of morbidity and mortality in the world. Because of the side effects and incomplete recovery from current therapy, stem cell therapy emerges as a potential therapy for CVD treatment, and endothelial progenitor cell (EPC) is one of the key stem cells used for therapeutic applications. The effect of this therapy required the expansion of EPC function. To enhance the EPC activation, proliferation, and angiogenesis using dronedarone hydrochloride (DH) is the purpose of this study. DH received approval for atrial fibrillation treatment and its cardiovascular protective effects were already reported. In this study, DH significantly increased EPC proliferation, tube formation, migration, and maintained EPCs surface marker expression. In addition, DH treatment up-regulated the phosphorylation of AKT and reduced the reactive oxygen species production. In summary, the cell priming by DH considerably improved the functional activity of EPCs, and the use of which might be a novel strategy for CVD treatment.
3.Dronedarone hydrochloride enhances the bioactivity of endothelial progenitor cells via regulation of the AKT signaling pathway
Jian ZHANG ; Thi Hong VAN LE ; Vinoth Kumar RETHINESWARAN ; Yeon-Ju KIM ; Woong Bi JANG ; Seung Taek JI ; Thanh Truong GIANG LY ; Jong Seong HA ; Jisoo YUN ; Jae Hun CHEONG ; Jinsup JUNG ; Sang-Mo KWON
The Korean Journal of Physiology and Pharmacology 2021;25(5):459-466
Cardiovascular disease (CVD) and its complications are the leading cause of morbidity and mortality in the world. Because of the side effects and incomplete recovery from current therapy, stem cell therapy emerges as a potential therapy for CVD treatment, and endothelial progenitor cell (EPC) is one of the key stem cells used for therapeutic applications. The effect of this therapy required the expansion of EPC function. To enhance the EPC activation, proliferation, and angiogenesis using dronedarone hydrochloride (DH) is the purpose of this study. DH received approval for atrial fibrillation treatment and its cardiovascular protective effects were already reported. In this study, DH significantly increased EPC proliferation, tube formation, migration, and maintained EPCs surface marker expression. In addition, DH treatment up-regulated the phosphorylation of AKT and reduced the reactive oxygen species production. In summary, the cell priming by DH considerably improved the functional activity of EPCs, and the use of which might be a novel strategy for CVD treatment.