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이윤호,김승준,김순호,임중규,전인표,임석환,배원엽,허진득 대한내분비학회 1995 Endocrinology and metabolism Vol.10 No.2
Polyglandular autoimmune(PGA) syndrome designates the dysfunction of endocrine and nonendocrine system involving two or more glands on the basis of autoimmunity. There are three types of PGA syndrome and their pathogenesis is still not completely understood. A 27-year-old woman developed polyglandular autoimmune syndrome manifesting insulin-dependent diabetes mellitus, myasthenia gravis and Graves' disease associated papillary thyroid carcinoma. The thyroid antimicrosomal antibody and antiacetylcholine receptor antibody were positive. Her HLA serotype was A2, A11, A62, B60, CW3, CW4, DR4, DR9. We report here a case of polyglandular autoimmune syndrome, type III manifesting insulin-dependent diabetes mellitus, myasthenia gravis and Graves' disease associated with papillary thyroid carcinoma(J Kor Soc Endocrinol 10: 142-147, 1995).
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현성은,최병세,장자현,전인표,장대현,류주석 대한재활의학회 2019 Annals of Rehabilitation Medicine Vol.43 No.2
Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any of the EIF2B1-5 genes. Any dysfunction of the EIF2B1-5 gene encoded eIF2B causes stress-provoked episodic rapid neurological deterioration in the patient, followed by a chronic progressive disease course. We present the case of a patient with an infantile-onset VWM with the pre-described specific clinical course, subsequent neurological aggravation induced by each viral infection, and the noted consequent progression into a comatose state. Although the initial brain magnetic resonance imaging did not reveal specific pathognomonic signs of VWM to distinguish it from other types of demyelinating leukodystrophy, the next-generation sequencing studies identified heterozygous missense variants in EIF2B3, including a novel variant in exon 7 (C706G), as well as a 0.008% frequency reported variant in exon 2 (T89C). Hence, the characteristic of unbiased genomic sequencing can clinically affect patient care and decision-making, especially in terms of the consideration of genetic disorders such as leukoencephalopathy in pediatric patients.
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이윤호,김승준,김순호,임중규,전인표,임석환,배원엽,허진득 대한내분비학회 1994 Endocrinology and metabolism Vol.9 No.1
Klinefelter syndrome is the most common form of male hypogonadism. It is characterized by small, firm testis, gynecomastia, a variable degree of eunuchoidism, azoospermia, elevated gonadotropin level. Increased frequency of diabetes mellitus, breast cancer, empysema, chronic bronchitis, varicose vein, germ cell neoplasia occurs in Klinefelter syndrome. We report a 19 year-old male patient with diabetes mellitus in association with Klinefelter syndrome, which was confirmed by chromosome analysis. The patient is being treated with insulin for diabetes mellius and with testostrone replacement for Klinefelter syndrome(J Kor Soc Endocrinol 9:46-49, 1994).
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미세단백뇨를 보인 인슐린비의존성 당뇨병환자에서 혈압 및 맥박의 일중변동의 변화
김승준(Seung Jun Kim),배원엽(Won Yeop Bae),임석환(Seok Hwan Lim),이윤호(Yun Ho Lee),전인표(In Pyo Jeon),김순호(Sun Ho Kim),조상기(Sang Kee Cho),임중규(Joong Kyu Im),허진득(Jin Deuk Hur) 대한내과학회 1997 대한내과학회지 Vol.52 No.3
N/A Objectives: In diabetics the disturbance of circardian variation of blood pressure and heart rate has been supposed to be related to diabetic autonomic neuropathy and diabetic nephropathy. We performed this study to evaluate the circardian variation of blood pressure and heart rate and the difference of affecting factors between normoalbuminuric patients and microalbuminuric patients. Methods: We studied 50normotensive NIDDM patients without overt nephropathy, divided two grooups, which are normoalbuminuric patients(D1 group) and microalhuminuric patients(D2 group), according to the urinary albumine excretion rate(AER) on 24-h urine collection. We simultaneosly measured 24-hour blood pressure and heart rate by using of ambulatory 24-hour blood pressure monitoring (ABPM). Results: 1) In group Kb, 24-h systolic and diastolic blood pressure were significantly higher than in C(normal control group) and D1 2) 24-h heart rate values did not significantly differ between the groups, but night heart was significantly elevated in group D2 than C and D1. 3) The night/day ratio of SBP(systolic blood pressure) and HR(heart rate) was significantly higher in D2 than C and D1, but the night/day ratio of DBP(diastolic blood pressure) was significantly higher in D2 compaired with C only. 4) The night/day ratio of SBP correlated significantly with duration of diabetes, log of AER, HDL, HbAlc and 24-h DBP. The determinants selected in a multiple stepwise regression were duration of diabetes and HbAlc. 5) The night/day ratio of DBP was related to duration of diabetes, log of AER, 24-h DBP and night HR. The determinants selected in a multiple stepwise regression were duration of diabetes and 24-h DBP. 6) The night/day ratio of HB was related to neuropathy, 1/creatinine, HDL, night SBP, duration of diabetes and log of AER. The determinants selected in a multiple stepwise regression were neruopathy and night SBP. Conclusion: In this study, the normal circardian variation of blood pressure was disturbed in a group of micoralbuminuric patients. But it seems that AER was not a principle independent factor and circardian variation of blood pressure and heart rate were affected by different several factors identified in this study. The nocturnal heart rate was significantly elevated in microalbuminuric group, suggesting the possibility of the presence of parasympathetic neuropathy which is supposed to be related with sudden cardiac death. So it is thought that blunted circardian variation of blood pressure and heart rate can be a prognostic indicator and further prospective study is necessary.
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