저신장을 주소로 내원한 환아에서 발견된 기질성 원인 질환에 대한 임상적 고찰

고시환,이동환 순천향의학연구소 1998 Journal of Soonchunhyang Medical Science Vol.4 No.1

Background: Growth is a sensitive index, which reflects the health status, nutrition and hereditary background of children. If a growth pace deviates from the normal, it could be a warning that represent s congenital or secondary diseases. A lot of research and clinical have been done since Raben reported the treatment of dwarfism using growth hormone for the first time in 1958. Recently, the interest in the growth is more and more increasing, which results in a lot of request. It is usually known that it is rare most children with short stature have abnormality in other internal organs except endocrine or congenital problems . Sometimes, however, the short height itself could be manifestation of major diseases caused by the problem of other internal organs. Accordingly, this study reports the cases of unexpected major diseases found in patients with short stature who have been observed in the outpation clinic and emphasizes the importance of early diagnosis of the diseases. Methods: The retrospective study has been done with the records of patients who were diagnosed as short sture with a basis of below 2 SD (Standard Deviation) or 3 percentile in the pediatric clinic of the Samsung seoul hospital from January of 1996 to July of 1997. The study excludes children patients who indicated vomiting, headache and other nervous diseases-related symptoms except short stature among brain tumor patients. Results : The results were as follows 1) Major internal organ problems have been found in 5 of 52 cases which were diagnosed as short stature after visiting the outpatient clinic with the chief complaint of growth retardation. 2) 2 of the 5 cases were diagnosed chronic renal failure and started dialysis treatment after several months. No specific problems were found in the urinalysis till the term of renal failure. 3) The problems on the Sella MRI test were found in 3 cases of 1 case craniopharyngioma, 1 case histiocytosis X and 1 case focal mass in the pituitary body. Conclusion: Although a few children have the problems in the major internal organs among patients who were diagnosed as short stature, major diseases were found in all 5 cases who have problem Accordingly, it is considered to be necessary to estimate other internal organs minutely.

주택과 고층 아파트 주거 아동의 행동 발달 상태에 대한 연구 : Between a separate dwelling and apartment

고시환,오경환,이우령,박재옥,이상주 순천향대학교 1993 논문집 Vol.16 No.2

The social and the physical environment, especially residential environment as a primary living space, have great influence on children's behavior development. So it is necessary to compare the differences according to children's residential environments. The purpose of this study is intended to find the influence of physical and social dwelling environments due to the difference between a separate dwelling and an apartment of the characteristics on children's behavior development. The subject of this study was 471 children(separate dwelling=297, apartment=174). The data of this study was obtained by questionnaire that administered to the sample.

誘導電動機 回轉子時定數 測定의 새로운 방법

최봉환,고시영,구본호 경일대학교 산업기술연구소 1991 産業技術硏究所 論文集 Vol.1 No.-

Among the parameters of induction machine, the rotor time constant is essential for high performance motor control. The paper deals with a simple and exact measurement of rotor time constant of induction motor. In this paper, rotor time constant is measured by emission time of stored energy in magnetizing inductance of motor. The proposed method is compared with conventional parameter mesurement method(no-load and blocked rotor test). The test results show that the former is good agreement with the latter. The latter method has some problems that require external DC motor for no-load test and locking appratus for blocked test. But the former does not need such things. That is to say, the proposed method is much more simple than the conventional method in measuremetn.

Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients

Jin, Dong-Kyu,Beck, Nam-Seon,Oh, Phil-Soo,Whang, Hye-Zin,Koh, Si-Whan,Kim, Jung-Sim,Oh, Myung-Ryurl Korean Society of Medical Genetics 1997 대한의학유전학회지 Vol.1 No.1

Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia (CAH) and is caused by genetic impairment of the gene (CYP21B). In the human genome, CYP21B is located within the MHC class III region on the short arm of chromosome 6. Most of the genes in this region are highly polymorphic and crowded. Also the CYP21B gene is accompanied by its pseudogene (CYP21A) and tandemly arranged with two genes of fourth component of complement. This highly complex gene cluster in this area may predispose genetic instability of CYP21, i.e. mutations. In this study, tried to investigate the frequency of duplication and deletion of CYP21 and patterns of the genetic alterations of these genes.We also compared the genetic alteration in normal subjects with those of the CAH patients. The results showed that 15% of the normal korean population have duplication or deletion of CYP21. There was one normal subject with heterozygous deletion of CYP21B. Of the 5 CAH patients examined, 2 were found to show abnormal patterns. One was a large-scale gene conversion and the other a gene conversion associated with deletion involving both CYP21B and C4 locus II gene. Through this study, we carne to the conclusion that the duplication or even deletion of CYP21 and C4 might be quite a common event in the Korean population and these rearrangements must be regarded as polymorphisms. It could contribute to a high incidencs of CAH by providing a genetic pool of instable CYP21.

이소성 췌장조직을 동반한 상부 위장관 출혈 1례

이상주,서원석,오창수,고시환,신상만,이동화 순천향대학교 1991 논문집 Vol.14 No.2

Pancreatic heteropia is defined as being the presence of pancreatic tissue outside its usual or habitual location and without anatomic relation either of continuity or of vascularization with the pancreas proper. The first reported example of pancreatic heterotopia was presented by Jean Schultz in 1727. He found this during autopsy of a newborn ; there was "a wart similar to a gland" in an ileal diverticulum but histologic confirmation was lacking. It remainded for Klob in 1895 to present histologic confirmation of this condition in two cases. In his first case, heterotopia involved the greater curvature of the stomach ; in the second, heterotopia was in the jejunum 10㎝ from the ligament of Treitz. Variously called heteropic pancreatic tissue, accessory pancreas, or aberrant pancreas. We experienced 1 case of ectopic pancreas associated with upper gastro-intestinal bleeding in a 4 years old male patient treated with operation. A brief review of related literature was made.

Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and adrenogenital syndrome patients

Dong Kyu Jin,Nam Seon Beck,Phil Soo Oh,Hye Zin Whang,Si Whan Koh,Jung Sim Kim,Myung Ryurl Oh 대한의학유전학회 1997 대한의학유전학회지 Vol.1 No.1

Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia (CAH) and is caused by genetic impairment of the gene (CYP21B). In the human genome, CYP21B is located within the MHC class Ⅲ region on the short arm of chromosome 6. Most of the genes in this region are highly polymorphic and crowded. Also the CYP21B gene is accompanied by its pseudogene (CYP21A) and tandemly arranged with two genes of the fourth component of complement. A highly complex gene cluster in this area may predispose genetic instability of CYP21, i.e. mutations. In this study, we tried to investigate the frequency of duplication and deletion of CYP21 and patterns of the genetic alterations of these genes. We also compared the genetic alterations in normal subjects with those of the CAH patients. The results showed that 15% of the normal Korean population have duplication or deletion of CYP21. There was one normal subject heterozygous for the deletion of CYP21B. of the 5 CAH patients examined, 2 were found to show abnormal patterns. One was a large-scale gene conversion and the other a gene conversion associated with deletion involving both CYP21B and C4 locus Ⅱ gene. Through this study, we came to the conclusion that the duplication or even deletion of CYP21 and C4 might be quite a common event in the Korean population and these rearrangements must be regarded as polymorphisms. It could contribute to a high incidence of CAH by providing a genetic pool of instable CYP21.

한국인에서 21-hydroxylase 결핍에 의해 초래되는 선천성 부신피질 과형성의 유전자형과 임상형에 관한 연구

김흥식,박성준,이진성,이동환,진동규,오필수,김덕희,유한욱,송승미,김정심,황혜진,온화영,고시환,엄미령,신재훈,한헌석,고철우 대한내분비학회 2000 Endocrinology and metabolism Vol.15 No.2

Background : Congenital adrenal hyperplasia(CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. It appears that the frequency and the type of the responsible mutations differ according to the ethnic background and the type of mutation can predict the clinical outcomes such as salt losing type(SL), simple virilizing type(SV) and non-classic type(NC). Methods : We have analyzed CYP21 genes in 55 Korean cases(110 chromosomes) of CAH by Southern blotting, PCR-dot hybridization and PCR amplification-created restriction site method. The patients include 43 cases of SL and 12 of SV. None of the NC was found. Results : We found the mutations in 94%(103/110) of the examined chromosomes. A total of 10 types of mutations were discovered. The mutations include aberrant splicing of intron 2(i2, 35%), CYP21 gene deletion(32%) and I172N(11%) in order. When the relationship between the clinical types and genotypes were correlated, most of the SL patients have either i2(42%) or CYP21 gene deletion(41%), while SV patients have I172N(33%) or P30L(21%). The parents' mutation was investigated in 20 cases. In 4 families, one of the parents was not the obligatory heterozygote carrier i.e. did not have a mutation. The results suggest the high incidence of de novo mutation. Conclusion : We have identified the frequency of mutations of the CYP21 in Korean AGS patients. Our results shows that the clinical type of AGS can be predicted from the genotypes of CYP21. Also the high incidence of de novo mutation of CYP21 confirmed the genetic instability of major histocompatibility III region where the CYP21 is located(J Kor Soc Endocrinol 15:237-247, 2000).