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전성완,서원나,문지애,육종인,정윤석,이유미,이은직,임승길,김세화,정종열 대한내분비학회 2006 Endocrinology and metabolism Vol.21 No.6
Familial hypocalciuric hypercalcemia is caused by heterozygous loss-of-function mutation of the calcium sensing receptor gene, and this is characterized by mild, persistently elevated levels of serum calcium without symptoms or complications. We present a case of clinically diagnosed familial hypocalciuric hypercalcemia with unexpected low bone mass. A 19-year-old man presented with incidentally discovered hypercalcemia. He showed normal growth and sexual maturation. Biochemical studies showed hypercalcemia, increased parathyroid hormone, hypocalciuria, a decreased urinary calcium-creatinine ratio and decreased serum 25-hydroxy-vitamin D. The other hormonal studies were normal. Dual energy x-ray absorptiometry showed low bone mineral density, and the Sestamibi scan showed no abnormality in the parathyroid glands. Iliac bone biopsy showed a general decrease in bone density and increased porosity of the cortical bone. Normal mineralization was also shown, but in part, osteoid deposition was also found. Direct sequencing of the patient's calcium sensing receptor gene showed a point mutation at exon7, Q926R. (J Kor Endocrinol Soc 21:583~588, 2006) 저자들은 임상적, 유전학적으로 가족성 저칼슘뇨성 고칼슘혈증으로 진단한 환자에서 비타민 D 부족에 의하였을 것으로 추정되는 골감소 소견이 동반되어 이를 보고하는 바이다.
증례 : 두 종류의 항체를 보유한 자가면역성 저혈당 1예
전성완 ( Sung Wan Chun ),이병완 ( Byung Wan Lee ),강은석 ( Eun Seok Kang ),차봉수 ( Bong Soo Cha ),이은직 ( Eun Jig Lee ),임승길 ( Sung Kil Lim ),이현철 ( Hyun Chul Lee ) 대한당뇨병학회 2009 임상당뇨병 Vol.10 No.2
자가항체로 인한 고인슐린성 저혈당증을 특징으로 하는 자가면역 저혈당은 인슐린 자가면역 증후군과 B형 인슐린저항성으로 나뉘며, 서로 다른 임상적 특성을 보인다. 저자들은 glucocorticoid 치료에 반응하지 않는 자가면역성 저혈당증에 대해 두 가지 종류의 인슐린 항체가 함께 존재함을 확인하고 cyclophosphamide 충격요법으로 저혈당이 호전된 73세 여자 환자 증례를 경험하였기에 문헌고찰과 함께 보고하는 바이다. Autoimmune hypoglycemia is rare kind of autoimmune disease caused by either anti-insulin antibodies (insulin autoimmune syndrome, IAS) or anti-insulin receptor antibodies (type B insulin resistance, type-B IR). We experienced an extremely rare case of the IAS accompanied by type-B IR. A 73-year-old woman presented with recurrent severe hypoglycemic symptoms at dawn for one month was admitted to the Severance hospital. She had several medical histories including 30 years of hypertension, 15 years of type 2 diabetes, and 4 years of coronary artery disease before admission. She had never received an insulin injection. Hypoglycemia was diagnosed at 10 hours in the 72-hour fasting test with glucose, insulin, and C-peptide levels of 42 mg/dL, 280.31 μU/mL, and 7.70 ng/mL, respectively. The insulin autoantibody titer was 130 μU/mL and quantitative assay for insulin receptor antibody was positive. Insulinoma was ruled out by imaging techniques and calcium stimulation test. She has no evidence of other diseases associated with altered immunity. Despite of treatment with prednisolone, symptomatic hypoglycemic events persisted at fasting state. Early induction of 300 mg cyclophosphamide therapy resulted in remission of hypoglycemia accompanied by suppressed antibody titer. The changes in autoantibodies might result in alleviation of the symptoms of hypoglycemia and improvement in insulin and C-peptide levels. (Korean Clinical Diabetes J 10:123-128, 2009)
장기간 메티마졸 사용 후 발생한 무과립구증과 연조직농양 1예
박세윤,전성완,김여주,김상진 대한갑상선학회 2011 International Journal of Thyroidology Vol.4 No.1
Antithyroid drugs (ATD) has been widely used to treat Graves’ disease. However agranulocytosis, a serious fatal complication of ATD treatment, occurs in about 0.5 percent. The symptoms may mimic viral infections (fever,sore throat), and the potentially life-threatening pyogenic infections can go unrecognized initially. The median duration of drug exposure before the onset of acute agranulocytosis is within 30 days in most cases. We report a case of agranulocytosis with secondary soft tissue infection and abscess occuring after increasing the dose of methimazole in a woman who had taken methimazole for more than 10 years. We administered broad-spectrum antibiotics and aspirated the soft tissue abscess. A review of the medical literature regarding agranulocytosis in the setting of ATDs is presented.
갑상선암 세포주와 갑상선암 조직에서 Gelsolin 유전자의 DNA Methylation의 양상
고희자,전성완,김여주,김상진 순천향대학교 순천향의학연구소 2010 Journal of Soonchunhyang Medical Science Vol.16 No.2
Gelsolin is an actin-binding protein involved in dynamic changes of the actin cytoskeleton. The protein regulates the length of actin filaments by binding, severing, and capping the fast-growing filament ends and promotes actin nucleation. Gelsolin is widely expressed in normal tussues. Decreased gelsolin expression occurs in many transformed cell types and in carcinomas of the colon,bladder, breast, lung, stomach, and prostate. Transciptional silencing of tumor suppressor genes by aberrant methylation of CpG islands plays a crucial role in the development of various cancers. Noske et al. showed inactivation of gelsolin might be mediated by epigenetic modification. But there is no information about the relationship between the gelsolin gene and thyroid cancer. We investigated DNA methylation in thyroid cancer cell lines and tissues from papillary thyroid cancer. We performed reverse transcription-polymerases chain reaction with methylation inhibitor 5-aza-2’-deoxycytidine (DAC) treatment and histone deacetylase inhibitor trichostatin A (TSA) treatment in 3 thyroid cancer cell lines, and combined bisulfite restriction analysis in 5 thyroid cancer cell lines and thyroid tissues from 12 papillary thyroid cancers. Almost all thyroid cancer cell lines showed promoter hypermethylation of gelsolin. Gelsolin was not methylated in all of 12 papillary thyroid cancer tissue specimens. DAC and TSA treatment did not increase the expression of gelsolin messenger RNA in thyroid cancer cell lines. These results suggest that DNA methylation of gelsolin does not contribute to thyroid tumor development, especially in papillary thyroid carcinoma.
정하은,홍채환,전성완,문소정,원영대,김영규 한국공업화학회 2018 한국공업화학회 연구논문 초록집 Vol.2018 No.0
점차 심각해지는 환경오염과 유가의 재상승으로 인해 석유기반 화합물의 대안으로 바이오매스 유래 고부가가치 화합물에 대한 개발이 필요하다. 그 중 아디픽산은 산업적으로 유용한 물질로, 기존에는 원유를 cyclohexane으로 정제 및 산화시켜 만들었으나 환경오염 문제로 Benzene-Free 아디픽산 합성에 관한 연구가 대두되었다. 또한 현재의 많은 연구들은 질산을 이용해 산화 시키고 대기오염의 주범인 질소산화물을 배출한다. 본 연구에서는 육상식물로부터 유래된 글루코스에서 부터 아디픽산을 만들어 바이오나일론으로 이용하기 위한 전 단계 중 글루카릭산칼륨염(monopotassium D-glucarate)을 합성하기 위한 것이다. 벤젠과 질산을 사용하지 않고 글루코스에서 아디픽산으로 제조하는 친환경적인 방법을 제시하고자 한다.