자폐장애 환자에서 FMR-1 유전 삼염기 반복의 분자생물학적 분석

곽호순,정철호,전효진,장은진,김희철,김정범,박영남 대한소아청소년정신의학회 2000 소아청소년정신의학 Vol.11 No.1

연구목적 : 자폐장애의 원인을 유전학적으로 규명하려는 연구가 시도되고 있으며, 그 중 fragile-X 증후군과의 연관성에 대한 연구가 활발히 진행되고 있다. fragile-X 염색체(Xq27.3)는 세포유전학적 방법으로 증명할 수 있으나 검사에 많은 제약과 단점이 있으므로, 본 연구에서는 보다 신뢰성이 높은 분자 생물학적 방법으로 FMR-1 유전자내 CGG 삼염기 반복부위를 분석하여 자폐장애와 fragile-X 증후군의 연관성을 규명하고자 하였다. 방법 : 자폐장애 환아(99명)와 정상대조군(8명)을 대상으로 FMR-1 유전자의 CGG 반복배열 부위를 sense와 antisense primer를 이용하여 PCR법으로 분석하엿으며, 동시에 세포유전학적 검사도 시행하였다. PCR 분석에서 CGG 반복수가 50 이상인 경우에 대해서는 StB12.3 혹은 Pfxa3 probe를 이용한 Sourthern blot hybridization으로 확인하였다. 결과 : FMR-1 유전자의 CGG 반복배열에 대한 PCR 분석 결과 CGG 삼염기의 반복배열의 수는 자폐장애 환자군과 정상대조군 사이에 통계적으로 유의한 차이가 없었다(p=0.207). 자폐장애 환자에서 CGG 반복수가 50회 이상인 조기변이(premutation) 환자가 2명 있었으나 Sourthern blot hybridization 결과 완전변이(full mutation)로 판정할 수 있는 경우는 없었다. 세포유전학적 검사에서 환자군 모두에서 정상 핵형을 나타내었으며 fragile-X 염색체는 확인되지 않았다. 결론 : 이상의 결과에서 자페장애 환자가 FMR-1 유전자의 CGG 삼염기 반복부위 이상, 즉 fragile-X 염색체 이상을 동반하지 않았음을 증명할 수 있었다. 이는 fragile-X 증후군을 자�장애의 직접적인 원인이라고 보기에는 어려움이 있음을 시사한다. Objectives : There has been a rapid expansion of studies aimed at elucidating the genetic basis of autistic disorder, especially it's relationship to fragile-X syndrome. The detection of fragile X chromosome(Xq27.3) by cytogenetic analysis has revealed many difficulties in testing. Therefore, to explore the relationship between autistic disorder and fragile X syndrome, this study administered molecular biologic methods which examined an unstable CGG repeat within the fragile X mental retardation-1(FMR-1) gene. Methods : Ninety nine autistic children and eight normal control children were tested. The number of CGG repeats within FMR-1 gene was measured after amplification by PCR, and cytogenetic analysis was also carried out to detect fragile site Xq27.3. Sourthern blot hybridization, using StB12.3 and/or Pfxa3 probe, was done for the patients showing expansion of more than 50 CGG repeats(premutation). Results : All but two autistic patients had no expansion in CGG repeats by PCR and there was no significant statistical difference in number of CGG repeat in comparison with normal control. Two autistic patients, considered as premutation by PCR analysis, had no full mutation or premutation by Southern blot hybridization. All autistic children tested did not have any abnormal karyotype or fragile site Xq27.3. Conclusions : These results suggest that autistic patients may not have abnormality in FMR-1 gene or abnormal expansion in CGG repeat. In conclusion, fragile X syndrome may not be antecedent of autistic disorder. KEY WORDS : Autistic disorder·FMR-1 gene trinucleotide repeats·Molecular biologic analysis.

무릎골절 환자에 발생한 폐동맥의 안장 색전증 : An autopsy case report

정민희,채종민,곽정식 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

Pulmonary embolism is a complication principally in patients already suffering from some underlying disorder, such as cardiac disease or cancer, or who are immobilized for long periods. It appears to be particularly a disease of modern developed and industrialized countries. The incidence if believed to be much lower in African and Asian populations than in the Western world. Sudden death often ensues, owing largely to the blockage of blood flow through the lungs. Because of the rarity of the incidence, it seems worthwhile to present an example studied at autopsy. Pulmonary embolism was associated with sudden death in a hospitalized patient who was immobilized for long periods after fracture surgery. There was a large embolus from deep femoral vein lying at bifurcation of main pulmonary arteries, extending into left and right branches.

水耕裁培 토마토의 生育 및 果實發育에 미치는 窒素源의 影響

郭倫僖,閔炳訓,李政明 경희대학교 부설 식량자원개발연구소 1990 硏究論文集 Vol.11 No.-

Experiments was conducted to investigate the shoot growth and fruit development in two cultivars of tomato(Lycopersicum esculentum Mill cv. 'Kangyuk and Ruby') as influenced by the composition of NO_(3)-N and NH_(4)-N in hydroponic culture solution. When the nitrogen was supplied entirely with NH_(4)-N, root browning and foliage withering were initially observed and most plants in this plot were eventually killed. The best shoot growth was obtained from the hydroponic culture containing an equal amount of NO_(3)-N and NH_(4)-N. The 2 tested cultivars exhibited similar response even though they possessed very different growth characteristics. Mean fruit fresh weight of 'Kangyuk' and Ruby tomatoes was significantly higher in nutrient solution composed of 70% NO_(3)-N and 30% NH_(4)-N and the fruits also showed the best qualities. However, higher composition of NH_(4)-N resulted in the lower mean fruit fresh weight. Total fruit yield and the number of fruits harvested per plant were not influenced by the composition of NO_(3)-N and NH_(4)-N in the nutrient solution except in the plot supplied entirely with NH_(4)-N. The composition of nitrogen form in nutrient solution had little or no effect on the soluble solids content, juice acidity, and juice titratable acidity unless the nitrogen was supplied only with NH_(4)-N.

시상부위에 발생한 단일성 뇌농양 : 증례 보고 및 문헌고찰 Report of Two Cases and Review of the Literature

곽호신,김동규,이상형,정희원,이현구,김현집,한대희 대한신경외과학회 1992 Journal of Korean neurosurgical society Vol.21 No.12

The authors present two cases of solitary thalamic abscess which were intially diagnosed as malignant thalamic glioma. After treatment with steroids and osmotic agents, the patients' clinical conditions improved after two to three days. However, sudden deterioration of consciousness level developed and the CT scan showed acute hydrocephalus with increment of thalamic low-density lesions. We performed extraventricular drainage and obtained CSF containing numerous inflammatory cells. This suggested the possibility that the lesion was a pyogenic abscess. which progressed to ventriculitis, rather than a malignant glioma. Stereotactic aspiration of the lesion confirmed thalamic abscess. These findings and review of previous reports of thalamic abscess suggested that early diagnosis and stereotactic drainage of the thalamic abscess is of primary importance.

야생 버섯을 복용 후 발생한 재생불량성 빈혈 1예

조소영,곽명옥,김정아,나현희,황동희,이홍기 仁濟大學校 白病院 2010 仁濟醫學 Vol.31 No.-

Aplastic anemia is one of the hematologic disease which is characterized by cytopenia in peripheral blood, hypocelluarity in bone marrow and marrow failure. Most common cause of aplastic anemia is unknown. Acquired causes of it are viral infection, drugs, and chemical agents. The symptoms of aplastic anemia are fatigue, headache, dizziness, exertional dyspnea, and pallor, and they are due to abrupt decrease in hemoglobin level. The incidence of acquired aplastic anemia is higher in Eastern population than Western. In geeral, men and women are affected with equal frequency, but the age distribution is biphasic, with the major peak in the teens and tweenties and a second rise in the elderly. We report a case of a 28-year-old man who experience aplastic anemia after ingestion of Cordyceps with the review of literatures.

전신장기의 호산구 침윤을 동반한 급성 심내막염과 심근염 : An Autopsy Case 부검증례

이상한,이숙희,임재원,곽정식,채종민 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

We experienced an autopsy case of acute endocarditis and myocarditis with systemic organic eosinophilic infiltration probably due to Clonorchis sinensis infection. Localized hypersensitivity reaction due to parasitic infection is common. Systemic eosinophilic infiltration is generally noted in idiopathic hypereosinophilic syndrome, drug induced reaction and parasitic infection.

Optimal Condition of Fish Collagen Peptide-loaded Liposome Depending on Manufacture Scales

YunJung Lee,Eunji Kwak1,Honggyun Kim,Jingjing Bai,SangYoon Lee,Jung Gyu Lee,Dong Hyeon Park,Hee Jeong Choi,Junhwan Bae,Youngjae Cho,Mi-Jung Choi 한국식품영양과학회 2017 한국식품영양과학회 학술대회발표집 Vol.2016 No.10

1995년도 대구지역 법의 부검 통계

채종민,이숙희,정민희,곽정식 大韓法醫學會 1996 대한법의학회지 Vol.20 No.1

This is a statistical observation by authors based on data of deaths brought to department of forensic medicine, Kyungpook National University School of Medicine for medicolegal autopsy by all of law enforcement agencies in Taegu area during the year of 1995. The report aims to reveal facts on various causes of death in Taegu area in attempt to analyse 205 cases statistically. The following are the summary of results ; 1. The total numbers of autopsy were 205 cases, of these 121 cases (58%) were males and 83 cases (40%) were females. 2. The violent deaths were 135 cases (66%) and the natural deaths were 63 cases (31%) and unknown cases were 7 (3%). 3. The percentage of autopsied cases with 30's age group was 28.2% (the most), 20's was 17.2%, 40's was 13.8%, 10's was 13.8%... in violent deaths. The percentage of autopsied cases with 30's age group was 31%, 40's was 20%, 20's was 20%, 50's was 15.5%...in natural deaths. 4. For the violent deaths, the percentage deaths due to injury was 52.9%, asphyxia was 29.8%, intoxication was 10.4% and abnormal temperature(hypothermia or fire) or electrocution was 6.7%. 5. For deaths due to injuries, the percentage of deaths due to blunt injury was 45.7%, sharp force injury was 29.5%, fall was 17.1%. and traffic accident was 7.1%. 6. For the natural deaths, 60 cases were recorded and the death due to the disese of the cardiocascular system was taking the most of the total percentage with 53%. 7. For deaths due to injuries, the percentage of accidental death was 57.3%, homicide was 22% and suicide was 14.7%. 8. 31 subjects (51.7%) of 128 violent deaths have positive blood alcohol concentrations (0.05% and above) , and 8.1% of natural deaths were associated with alcohol intake. 9. For deaths by medical dispute, 7 cases were recorded and deaths combined with operation were taking the most of the total percentage with 43%.

석탄회 및 석고첨가가 퇴비화에 미치는 영향

유현철,김정섭,곽명화,윤철종,이희인,박승조 동아대학교 환경문제연구소 2001 硏究報告 Vol.24 No.1

Problems of wastes that pigs produce are increasing rapidly in the hog raising industry nowadays. consequently, the generation volume of excreta also is increasing but most of that is not disposed appropriately and exposed in eco-system therefore the disposal of stock excreta is becoming more and more serious. considering the physical and chemical characteristics of livestock excreta, the pollution loading rate - BOD, COD etc. - is very high. as alternative plan, that is, as one method kind of composisting, the utilization of the soil reformation agent will become one solution in managing the upper problems. also, the flyash of 3.7 million tons are producing every year and about 32.2% of that, 1.18 million ton is recycled as concrete, cement, cementassistance, road etc. consequently, the discharged flyash is not abandoned and a plan of recycling is needed acutely. gypsum of 4.16 million tons in 1998 presently was produced and about 57.2% of that, 2.38 million tons was recycled as cement, construction materials. the present stock is 25 million tons. therefore, in this study, because organic materials can be obtained in pig excreta and calciums can be obtained in gypsum, the small amount of elements can be acquired in flyash for the soil reformation agents, mixing the three materials - pig excreta, gypsum, flyash - adequately, investigated technique of making the soil reformation agents and described below in comparrision with the changes of temperature, PH TOC, T-N, TOC/T-N ratio etc.

한국인에 있어서 상부식도의 이소성 위점막의 빈도 및 임상적 양상

이동욱(Dong Wook Lee),김은영(Eun Young Kim),박정모(Jung Mo Park),이원석(Won Suk Lee),곽동협(Dong Hyup Kwak),김정희(Jung Hee Kim) 대한내과학회 1998 대한내과학회지 Vol.54 No.1

N/A Objectives: This study was performed to investigate the incidence and the clinical significance of inlet patch of heterotopic gastric mucosa in Koreans. This lesion can be found by close observation around the upper esophageal sphincter during upper gastrointestinal endoscopy. Methods: From March 1, 1996 to July 8, 1996, at Kwak's hospital, randomly selected 271 patients undergoing routine diagnostic upper gastrointestinal endoscopy were included in this study. Patients with the inlet patch were confirmed by histology. Clinical symptoms observed through medical history were recorded. Results: Twenty-six cases(9.6%) of the 271 patients studied had heterotopic gastric mucosa which was found at or just below the upper esophageal sphincter, varing from 3 to 30mm in diameter. It was velvety red in color and distinct from the surrounding normal squamous esophageal mucosa, resembling the Z-line at the esophagogastric junction. Parietal cells were identified in all 18 cases in which biopsy specimen contained deep glands, and chief cells were found in 14 eases. Histologically, fundic gland type was most frequent. The symptoms were relatively mild, 5 out of 6 patients who complained of throat discomfort were relieved by H2 antagonists. Conclusion: In Koreans the incidence of heterotopic gastric mucosa in the upper esophagus was similar to the reports from western countries unlike Barrett's esophagus, The etiology of these patches appeared to be congenital rather than acquired from reflux of gastric acid. This was supported by its location in the proximal esophagus and lack of correlation with reflux esophagitis. It must be considered as one of the differential diagnosis of a patient who complains of throat discomfort during diagnostic upper gastrointestinal endoscopy. Attention needs to be paid to find possible development of complications such as stricture and adenocarcinoma in patients with the inlet patch of heterotopic gastric mucosa.