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김미연,Alice Hyun Kyung Tan,기창석,이지인,장혜원,신현원,김선욱,민용기,이명식,이문규,김광원,정재훈 대한의학회 2010 Journal of Korean medical science Vol.25 No.2
Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism,also known as autosomal dominant hypocalcemia (ADH). Here we describe members of a Korean family with a heterozygous Pro221Leu mutation causing ADH. This case is the first report in Korea.
Kim, Mi Yeon,Tan, Alice Hyun Kyung,Ki, Chang-Seok,Lee, Ji In,Jang, Hye Won,Shin, Hyun Won,Kim, Sun Wook,Min, Yong-Ki,Lee, Myung-Shik,Lee, Moon-Kyu,Kim, Kwang-Won,Chung, Jae Hoon The Korean Academy of Medical Sciences 2010 JOURNAL OF KOREAN MEDICAL SCIENCE Vol.25 No.2
<P>Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). Here we describe members of a Korean family with a heterozygous Pro221Leu mutation causing ADH. This case is the first report in Korea.</P>
A Case of Resistance to Thyroid Hormone with Thyroid Cancer
김희경,김도이,유은형,이지인,장혜원,Alice Hyun Kyung Tan,허규연,김재현,김광원,정재훈,김선욱 대한의학회 2010 Journal of Korean medical science Vol.25 No.9
Resistance to thyroid hormone (RTH) is an autosomal dominant hereditary disorder that is difficult to diagnose because of its rarity and variable clinical features. The magnitude of RTH is caused by mutations in the thyroid hormone receptor beta (TRβ) gene. We recently treated a 38-yr-old woman with RTH who had incidental papillary thyroid carcinoma. She presented with goiter and displayed elevated thyroid hormone levels with an unsuppressed TSH. She was determined to harbor a missense mutation of M310T in exon 9 of the TRβgene, and diagnosed with generalized RTH. This mutation has not yet been reported in Korea. RTH is very rare and easily overlooked, but should be considered in patients who present with goiter and elevated thyroid hormone levels with an unsuppressed TSH. The association between thyroid cancer and RTH needs further study.
Park, Ki-Soo,Kim, Young-Seok,Kim, Jae-Hyeon,Choi, Bongkum,Kim, Sa-Hyun,Tan, Alice Hyun-Kyung,Lee, Myung-Shik,Lee, Moon-Kyu,Kwon, Choon-Hyuck,Joh, Jae-Won,Kim, Sung-Joo,Kim, Kwang-Won Lippincott Williams Wilkins, Inc. 2010 Transplantation Vol.89 No.5
BACKGROUND.: Mesenchymal stem cells (MSCs), also known as multipotent progenitor cells, release several factors that support cell survival and enhance wound healing. We hypothesized that MSC-secreted molecules would induce a trophic effect in pancreatic islet culture conditions. METHODS.: Pancreatic islets were co-cultured with MSCs, and ADP/ATP ratios, glucose stimulated insulin secretion (GSIS), and DNA fragmentation were evaluated to measure islet quality and viability in vitro. The induction of signal molecules related to the control of survival, function, and angiogenesis was also analyzed. Cell quality assays, DNA fragmentation assays, and islet transplantation into streptozotocin-induced diabetic mice were performed using MSC-conditioned medium (CM)–cultured islets. Furthermore, we identified soluble molecules within MSC-CM. RESULTS.: Islets co-cultured with MSCs demonstrated lower ADP/ATP ratios, and higher GSIS indexes and viability. Furthermore, co-cultured islets revealed higher levels of anti-apoptotic signal molecules (X-linked inhibitor of apoptosis protein, Bcl-xL, Bcl-2, and heat shock protein-32) and demonstrated increased vascular endothelial growth factor receptor 2 and Tie-2 mRNA expression and increased levels of phosphorylated Tie-2 and focal adhesion kinase protein. Islets cultured in MSC-CM demonstrated lower ADP/ATP ratios, less apoptosis, and a higher GSIS indexes. Diabetic mice that received islet transplants (200 islet equivalent) cultured in MSC-CM for 48 hr demonstrated significantly lower blood glucose levels and enhanced blood vessel formation. In addition, interleukin-6, interleukin-8, vascular endothelial growth factor-A, hepatocyte growth factor, and transforming growth factor-&bgr; were detected at significant levels in MSC-CM. CONCLUSIONS.: These results suggest that the trophic factors secreted by human MSCs enhance islet survival and function after transplantation.