신생아기에 진단된 Citrullinemia 1례

송승규,오경창,홍미애,김희택,신혜정,김순영,장진근,조희승,김병일,양세원,최중환,Song, Seung Kyu,Oh, Kyung Chang,Hong, Mi Ae,Kim, Hee Taeg,Shin, Hye Jung,Kim, Soon Young,Chang, Jin Keun,Jo, Heui Seung,Kim, Beyong Il,Yang, Sei Won,Choi, J 대한소아청소년과학회 2002 Clinical and Experimental Pediatrics (CEP) Vol.45 No.4

Citrullinemia는 유전성 대사 질환 중 하나로서 argininosuccinic acid synthetase 결손에 의해 발생하는 질병이다. 구토, 기면 또는 보챔, 경련, 의식장애와 같은 증상이 고암모니아혈증에 의해 초래되고 고암모니아혈증을 신속히 치료해야만 비가역적인 뇌손상을 줄일 수 있다. 저자들은 소변 유기산 분석과 혈중 및 요중 아미노산 분석에 의해 citrullinemia 1례를 경험했기에 이에 문헌 고찰과 함께 보고하는 바이다. Citrullinemia is a rare inborn error of metabolism of the urea cycle, and was first reported by McMurray, et al. in 1962. It is inherited as an autosomal recessive trait. The normal synthesis of argininosuccinic acid is blocked in this disease due to a deficiency of argininosuccinic acid synthetase(AS), which has been demonstrated in liver cells and fibroblasts. The clinical symptoms are vomiting, lethargy or irritability, convulsion and mental retardation. The diagnosis is made by the finding of an increased plasma citrulline level. Every effort should be made to reduce the blood ammonia level as rapidly as possible before irreversible brain damage occurs. This report describes a case of citrullinemia that was diagnosed through organic acid analysis and amino acid analysis, and reviews the related literatures.

A군 연쇄구균성 인두편도염 진단을 위한 두 종류 신속항원검사법의 비교

송승규,홍미애,오경창,안승인,태미현,신혜정,장진근,차성호,Song, Seung Kyu,Hong, Mi Ae,Oh, Kyung Chang,Ahn, Seung In,Tae, Mi Hyon,Shin, Hye Jung,Chang, Jin Keun,Cha, Sung Ho 대한소아청소년과학회 2002 Clinical and Experimental Pediatrics (CEP) Vol.45 No.8

목 적: A군 베타용혈성 연쇄구균은 급성 인두편도염의 원인이 되는 세균으로 류마티스성 열 및 사구체 신염과 같은 심각한 합병증을 유발할 수 있어 정확한 진단과 치료를 해야 하는 질병이다. A군 연쇄구균성 인두편도염은 증상만으로는 진단하기 어렵고, 가장 좋은 검사방법인 인두배양검사는 시간을 요하는 단점이 있다. 최근에 비교적 검사과정이 간단한 신속항원검사법을 이용할 수 있게 되었다. 이에 저자들은 두 종류의 신속항원검사법의 민감도와 특이도를 알아보고, 일치도를 평가하기 위해 본 연구를 시행하였다. 방 법: 2001년 11월부터 2002년 2월까지 한일병원 소아과 외래를 방문한 환자 중 인두의 발적과 부종, 인두의 삼출물, 인두의 점상 출혈이 있는 61명의 환자를 대상으로 인두배양검사와 신속항원검사를 시행하였다. 신속항원검사법은 BD $LINK2^{TM}$ Strep A(Becton, Dickinson & Company, U.S.A.)와 $QuickVue^{(R)}$ $In-LINK^{TM}$(Quidel Corporation, U.S.A.)를 사용하였다. 결 과 : 1) 61례의 검체 중 22례(36.1%)에서 인두배양검사상 A군 베타용혈성 연쇄구균이 배양되었다. 2) 집락수 1+는 2례(9.1%), 집락수 2+는 1례(4.5%), 집락수 3+는 10례(45.5%), 집락수 4+는 9례(40.9 %)로 배양되었다. 3) 인두배양검사에서 양성으로 나온 환자 중 3세에서 5세 사이가 14례(63.6%)로 본 연구에서 A군 연쇄구균성 인두편도염의 가장 흔한 연령층이었다. 4) 인두배양검사상 양성으로 나온 환자의 임상 증상 및 징후는 발열과 림프절 종대가 각각 18례(81.8%)에서 나타났고, 인두통 16례(72.7%), 구토 11례(50.0%), 성홍열양 피부발진 8례(36.4%), 두통 7례(31.8%), 복통 7례(31.8%), 딸기모양의 혀는 6례(27.7%)에서 관찰되었다. 5) 민감도는 BD $LINK2^{TM}$ Strep A가 81.8%(18례/22례), $QuickVue^{(R)}$ $In-LINK^{TM}$이 77.3%(17례/22례)이었다. 특이도는 BD $LINK2^{TM}$ Strep A가 89.7%(35례/39례), $QuickVue^{(R)}$ $In-LINK^{TM}$이 100%(39례/39례)이었다. 6) 양성 예측도는 BD $LINK2^{TM}$ Strep A가 81.8%, $QuickVue^{(R)}$ $In-Line^{TM}$이 100%이었다. 음성 예측도는 BD $LINK2^{TM}$ Strep A가 89.7%, $QuickVue^{(R)}$ In-Line$^{TM}$이 88.6%이었다. 7) 인두배양검사에 대한 BD $LINK2^{TM}$ Strep A의 k값은 0.72로 일치도 좋음을 보였고, $QuickVue^{(R)}$ $In-Line^{TM}$의 k값은 0.81로 일치도 아주 좋음을 나타냈다. 결 론 : 신속항원검사법인 BD $LINK2^{TM}$ Strep A와 $QuickVue^{(R)}$ $In-LINK^{TM}$은 민감도와 특이도, 일치도가 높을 뿐 아니라 신속하고 간편하게 결과를 알 수 있어서 인두배양검사와 병행하여 급성 인두편도염을 진단하고 치료하는데 많은 도움이 될 수 있을 것으로 사료된다. Purpose : Recently, a number of rapid antigen detection tests have been available to diagnose group A streptococcal pharyngotonsillitis. The purpose of this study was to determine the sensitivity, specificity and consistency of the two rapid antigen detection tests. Methods : Among the patients who visited our clinic from November 2001 to February 2002, 61 patients who had clinical findings of pharyngeal erythema or edema, pharyngeal exudates and soft palatine petechiae were enrolled in our study. A total of 61 patients were tested with rapid antigen detection tests and throat culture. BD $LINK2^{TM}$ Strep A(Becton, Dickinson & Company, U.S.A.) and $QuickVue^{(R)}$ $In-Line^{TM}$(Quidel Corporation, U.S.A.) were selected for rapid antigen detection tests. Results : Of the 61 patients tested, 22 patients were confirmed as group A streptococcal pharyngotonsillitis by throat culture. The BD $LINK2^{TM}$ Strep A had a sensitivity of 81.8% and a specificity 89.7%. The positive and negative predictive values were 81.8% and 89.7%, respectively. The $QuickVue^{(R)}$ $In-Line^{TM}$ had a sensitivity of 77.3% and a specificity of 100%. The positive and negative predictive values were 100% and 88.6%, respectively. The kappa values of BD $LINK2^{TM}$ Strep A and $QuickVue^{(R)}$ $In-Line^{TM}$ were 0.72 and 0.81, respectively. Conclusion : In addition to high sensitivity, specificity and consistency, both kits are easy to use and simple to interpret, and therefore have the potential to be used with backup throat culture for diagnosis of acute pharyngotonsillitis.

임신 오조에 합병된 Wernicke 뇌증 1 예

최용석(Yong Seok Choi),김종오(Jong Oh Kim),이성림(Seong Lim Lee),송승규(Seung Kyu Song),조봉춘(Bong Choon Jo) 대한산부인과학회 2001 Obstetrics & Gynecology Science Vol.44 No.10

Hyperemesis gravidarum is characterized by severe nausea, vomiting followed by weight loss, dehydration, electrolyte imbalance and acid-base derangements. Its treatment was composed of adequate fluid therapy, electrolyte replacement and nutrient supply. In severe case, it also leads to a variety of neurological symptoms including confusion, gait disturbance and nystagmus, possibly due to thiamine deficiency and may result in so called Wernicke's disease. We have experienced a case of Wernicke's encephalopathy associated with severe hyperemesis gravidarum and this case is presented with a brief review of literature.

자궁경부 종양에서 p53, Proliferating Cell Nuclear Antigen(PCNA), c-myc 및 Epidermal Growth Factor Receptor(EGFR)의 발현

한구택 ( Ku Taek Han ),이형근 ( Hyung Kun Lee ),유순원 ( Sun Won Yoo ),송영훈 ( Young Hun Song ),최원영 ( Won Young Choi ),유기성 ( Ki Sung Ryu ),나종구 ( Jong Gu Rha ),송승규 ( Seung Kyu Song ),이헌영 ( Hun Young Lee ),김수평 ( S 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.12

Expression of four biologic markers known as p53, proliferating cell nuclear antigen(PCNA), c-myc, and epidermal growth factor receptor(EGFR), was studied immunohistochemically in 121 cases of cervical tissues, which included 15 cases of normal cervical tissues, 50 cases of squamous intraepithelial lesions(SIL), and 56 cases of invasive carcinomas. This study was designed to elucidate the roles of these factors in the genesis and progression of cervical neoplasia and to identify their association with clinical parameters such as cell type, tumor size, lymph node involvement, squamous cell carcinoma(SCC) antigen level, and prognosis. In additon, this study evaluates the differences of coexpression rates in normal cervical tissues, SILs, and invasive carcinomas. (1) The intensities of p53, c-myc, and EGFR expression and the rates of PCNA, c-myc, and EGFR expression in cervical SILs and invasive carcinomas were significantly higher than those in normal tissues (p<0.05 and p<0.01). But there were no significant differences between SILs and invasive carcinomas in both of intensities and rates of p53, PCNA, c-myc, and EGFR expression. (2) The intensities and rates of p53, PCNA, and c-myc expression in the invasive carcinomas did not correlate with clinical parameters including cell types, tumor sizes, lymph node involvements, see antigen, and prognosis. But only the intensity and rate of EGFR expression were significantly higher in cases with tumor size larger than 3 cm when it was compared with cases with tumor sizes smaller than 3 cm(p<0.01), in cases with lymph node involvement when it was compared with cases without lymph node involvement(p<0.05), and in cases with SCC antigen levels more than 2.5 ng/ml when it was compared with cases with SCC antigen levels less than 2.5 ng/ml(p<0.05). (3) C-myc immunoreactivity was significantly correlated with EGFR overexpression(p<0.01). (4) The rates of simultaneous expression of four factors were decreased significantly in normal tissues and significantly increased in invasive carcinomas(p<0.01). The coexpression rate of two factors or more was 6.7% in normal tissues, 62.7% in SILs, and 70.0% in invasive carcinomas and the simultaneous expression rate of three factors or more was none in normal tissues, 34.0% in SILs, and 47.5 % in invasive carcinomas. These results show that the immunohistochemical detection of p53, PCNA, c-myc, and EGFR expression will be useful in differentiating the normal tissues and cervical neoplasia. The results of simultaneous immunohistochemical detection of these four factor expression also suggest to contribute a better understanding of the genesis of cervical carcinoma and that coexpression of more factors indicate more aggressiveness in cervical neoplasia, and show that simultaneous detection of these factors can be used in the early detection of cervical neoplasia and to predict malignant transformation of cervical lesions.

체외 배양에 있어서 5% 산소 환경과 superoxide dismutase ( SOD ) 가 착상전 생쥐 배아 발달에 미치는 영향

양현원(Hyun Won Yang),이치형(Chi Hyeong Lee),오기석(Kie Suk Oh),유희석(Hee Sug Ryu),송승규(Seung Kyu Song),박동욱(Dong Wook Park) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.3

Objective: In the human body the embryo initially gmws in the fallopian tube which is maintained in an 3-8% O2 concentration environment, and various substances such as growth factors and antioxidants present in tbe tubal fluid assists in maintaining a healthy environment for embryo development. But in IVF programs embryo cultures are conducted in incubators with 21.9% O2 and 5% CO2 condition, and such high oxygen concentrations have been reported to increase the production of oxygen free radicals within the embryo and is detrimental to the growth and development of the embryo. The objective of this study, therefore, is to determine the culture conditions which will decrease oxygen free radical production and thereby minimize the injury to the embryo. Methods: Six to eight week old ICR strain mice embryos were cultured in 5% or 21.9% O2 conditions and in culture media to which inaement concentrations of superoxide dismutase (SOD) had been and the H2O2 concentration within the embryo, embryo developmental rate, and degree of fragmentation of the embryos was investigated. Results: The control gmup embryos which were cultured in 21.9% O2 condition without addition of SOD showed developmental arrest at the 2-cell stage or fragmentation, while those cultured in 21.9% O2 condition with addition of SOD showed development to the blastocyst stage with deaeased fragmentation. In particular, the blastulation and fragmentation rates were the lowest in the group to which 500 IU/ml of SOD was added, but in the 5% O2 enviranment group many embryos reached the blastocyst stage and with no difference in frapnentation with or without addition of SOD. The HO relative intensity (120.5+-20.2) within the embryos cultured in 21.9% O2 environment without SOD was significantly higher than that (56.8+-10.8) of group with SOD (p<0.05). As showing that in the 5% O2 environment group without SOD it was 43.8+-7.8 and in the group with SOD it was 37.3+-5.4, the H2O2 concentration within embryos cultured in 5% 02 condition was significantly lower those that of 21,9% 02 environment regardless of SOD addition (p<0.05). Conclusion: The optimal oxygen concentration in incubator for mice embryo cultures is that which is similar to the 5% 0 concentration in vivo. When 20% 02 incubators are routinely used, the addition of SOD to the culture media will decrease the H2O2 concentration within the embryos with subsequent improvement in development. The optimal concentration which should be used is thought to be 500 IU/ml. It is suggested that the use of the above method in human IVF-ET programs will lead to improved embryo quality and enhanced pregnancy rates.

여성의 클라미디아 트라코마티스 감염에 대한 임상적 고찰

김종오(Jong Oh Kim),윤일영(Il Young Yun),정도영(Do Young Chung),조봉춘(Bong Choon Jo),송승규(Seung Kyu Song) 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.10

Objective : Chlamydia trachomatis is one of the most common causative microorganisms in pelvic inflammatory disease. The symptom of Chlamydia infection is nearly absent or weak in many cases, but its complication is clinically very important because of tubal obstruction, infertility, tubal pregnancy, and recurrent pelvic inflammatory disease. This study was performed to investigate the prevalence rate and clinical characteristics of Chlamydia trachomatis. Methods : From May, 2001 to April, 2002, in Daerim St. Mary`s Hospital, OB-Gyn department, the 68 inpatients of pelvic inflammatory diseases and 607 outpatients of routine gynecologic examination were studied on history taking, physical examination, laboratory test, and polymerase chain reaction for the detection of Chlamydia trachomatis. Results : The prevalence rate of Chlamydia trachomatis was 20.6% (14/68) in pelvic inflammatory disease and 8.6% (51/593) in routine gynecologic examination. As regarding the age distribution of Chlamydia trachomatis positive group was the largest portion in the twenties, and symptom-free group was about 40%. Chlamydia infection was related to the history of artificial abortion, and showed no significant difference in parity. Most common site of infection was uterine cervix, and mixed infection rate with other bacteria was 43.1%. The treatments were given medically in 58 cases, surgically in 6 cases, and laparoscopy in 1 case were performed. Conclusion : Although the prevalence rate of Chlamydia infection is high in sexually active age group and Chlamydia infection has a serious bad effect on reproduction, the disease detection is difficult because symptom is weak or absent, but it reveals good cure rate. Therefore the screening and treatment of Chlamydia trachomatis are necessary to decrease the prevalence and prevention of complication.

전치 태반의 임상적 고찰

김수평(Soo Pyung Kim),이초희(Cho Hi Lee),김사진(Sa Jin Kim),허수영(Soo Young Hur),이귀세라(Gui Se Ra Lee),이지현(Jee Hyun Lee),권인(In Kweon),송승규(Seung Kyu Song) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.3

Objective: A Clinical Study of Placenta P#revia done by cesarean section and the study of preterm delivery that is major cause of premature motality even thought expected managment of placente previa. Methods: This study was evaluated for the clinical analysis on the 641 patients with placenta previa among total deliveries of 56,120 cases at the St. Mary and Holy Family hospital of Catholic University from Jan. 1,1989 to Dec.31,1997. Results: The following results were obtained: 1. The total incidence of placenta previa was 1.14%. 2. The incidence of placenta previa increases with age. 3. Placenta previa has occurred more often in multipara(60.2%) than primipara(39.8%), and placenta previa has occurred more often in women who had experienced abortion(71.8%) than women who hadnt(28.2%). 4. The types of placenta previa distributed 326 cases of totalis(50.9%), 110 cases of partialis(17.2%), 99 cases of marginal(15.4%) and 106 cases of low lying placenta(16.4%). 5. The fetal presentation distributed 557 cases of vertex(86.9%), 49 cases of breech(7.6%), 28 cases of transverse lie(4.4%). 6. The types of uterine incision included 543 cases of low sepnent transverse incision(84.7%), 46 cases of classical incision(7.2%), 9 cases of inverted T incision and 43 cases of cesarean hysterectomy(6.7%). 7. Premature delivery of placenta previa prior to completion of 37 weeks was 186 cases(29.0%) and low birth infant less than 2,500gm was 128 cases(20.0%).and perinatal mortality rate was 28.0 per 1,000. 8. During delivery, 278 cases of placenta previa(43.4%) were transfused with mean 3.6 pints. Incidence of vaginal bleeding was 49.3% of placenta previa,mean admission day until delivery was about 5 day. Conclusion: there is a strong association between advancing age and incidence of placenta previa, and then. the risk increases with parity & the number of abortion. Considering the mean volume of blood loss more than 3 pints of blood should be prepared befor delivery.

난소의 출혈성 병변에 대한 임상 및 조직병리학적 연구

김명찬(Myeong Chan Kim),하상범(Sang Bum Ha),최용석(Yong Suk Choi),김종오(Jong Oh Kim),이성림(Seong Lim Lee),이헌경(Hun Kyung Lee),송승규(Seung Kyu Song),조봉춘(Bong Choon Jo) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.10

Objective : Ovarian hemorrhage in a woman of reproductive age is often confused with other surgical emergencies such as acute appendicitis and ectopic pregnancy because there are no typical symptoms and signs that will make definitive diagnosis possible. The authors analyzed 101 cases of ovarian hemorrhages with the purpose of obtaining rapid and precise diagnosis and appropriate treatment. Methods : We analyzed 101 cases of ovarian hemorrhages at the Department of Obstetrics and Gynecology at Dae Rim Saint Mary's Hospital from 1993 to 1999. This analysis includes 96 preexisting cases involving finalized successful surgical treatment and 5 inpatient cases involving conservative treatment. We examined age, parity, clinical features, elapsed days of cycle, histopathologic findings, and operative methods.Results : Mean age of occurrence was 26.3 years, and 57.4% of the cases occurred in nullipara. 64 cases involved the right ovary, and 18 cases were associated with paracoital injuries. The onset of symptoms occurred most frequently between the 20th and 30th days of the menstrual cycle. The histopathologic findings were corpus luteum cyst(30.7%), corpus luteum(24.8%), follicular cyst(14.9%), and ovarian pregnancy(8.9%). The most common type of operation is ovarian cystectomy or ovarian wedge resection(61.4%).Conclusion : Ovarian hemorrhage is a relatively common disease which is accompanied by severe abdominal pain and often life-threatening surgical conditions. Therefore, differential diagnosis should be performed rapidly and precisely from other acute abdomens in a woman of reproductive age. Surgical management should be performed rapidly if indicated. If ovarian hemorrhage is minimal, it can be managed by observation or conservative treatment.

거대아를 분만한 임신부에서의 분만후 75g 당부하검사의 의의

권인 ( In Kweon ),이귀세라 ( Gui Se Ra Lee ),김사진 ( Sa Jin Kim ),이근호 ( Kun Ho Lee ),허수영 ( Soo Young Hur ),김은중 ( Eun Jung Kim ),송승규 ( Seung Kyu Song ),김수평 ( Soo Pyung Kim ) 대한주산의학회 1997 大韓周産醫學會雜誌 Vol.8 No.4

태아 양측 유미흉의 흉부-양수 도관 관류 -도관의 흉곽내 이동증례 1예-

이용석 ( Yong Seok Lee ),김사진 ( Sa Jin Kim ),이해규 ( Hae Gyu Lee ),최윤경 ( Yun Kyung Choi ),이귀세라 ( Gui Sera Lee ),노승혜 ( Seung Hye Rho ),신종철 ( Jong Chul Shin ),송승규 ( Sung Kyu Song ),김수평 ( Su Pyung Kim ) 대한주산의학회 1998 大韓周産醫學會雜誌 Vol.9 No.4