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Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

  • Lee, Bom-Yi;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Park, So-Yeon;Ryu, Hyun-Mee;Lee, Si-Won
    • Journal of Genetic Medicine
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    • 제14권2호
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    • pp.62-66
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    • 2017
  • Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.

양분선택형 조건부가치측정법 응답자료의 실증적 쟁점분석 (A Critical Evaluation of Dichotomous Choice Responses in Contingent Valuation Method)

  • 엄영숙
    • 자원ㆍ환경경제연구
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    • 제20권1호
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    • pp.119-153
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    • 2011
  • 본 연구는 조건부가치측정법(CVM)의 지불의사유도 방법으로 가장 많이 적용되고 있는 양분선택형 응답자료를 활용하여 WTP 함수의 추정과 편익의 측정단계에 쟁점이 될 수 있는 경제이론적 근거, 확률분포의 가정, 확률모형의 표기, 함수형태 그리고 편익의 범위 등 분석자의 입장에서 중요한 제요소들에 대해 이론적으로 검토하고 산림보존을 위한 가치추정 자료를 사용하여 실증적으로 분석하였다. WTP 함수를 선형으로 표기하는 한, 확률효용모형과 확률지출모형은 쌍대적 접근으로 해석할 수 있었고, 또한 확률모형의 오차항의 분포를 정규분포로 하든지 로지스틱분포로 가정하든지 계수들의 추정치와 이들을 사용하여 측정된 표본 WTP도 차이가 없었다. 그러나 이중양분선택모형은 WTP 함수 추정과 편익측정 결과는 두 CV 제시금액에 대한 응답이 같은 WTP 분포로 왔다고 보기 어려워 단일양분선택형 모형이 갖는 유인일치성이 약화되었다. 나아가서 WTP를 비음의 영역으로 제한하는 WTP 함수형태의 경우 척도모수가 클 경우 표본 WTP의 평균과 중앙값이 크게 다른 것으로 나타났다.

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중등도 이상의 무지 외반증에서 근위 초승달형 절골술의 효과 (Results of the Proximal Crescentic Osteotomy for Moderate to Severe Hallux Valgus Deformity)

  • 이윤태;김형복;윤한국
    • 대한족부족관절학회지
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    • 제14권1호
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    • pp.11-15
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    • 2010
  • Purpose: The purpose of this study was to retrospectively analyze the clinical and radiologic results of the proximal crescentic osteotomy for moderate to severe hallux valgus deformity. Materials and Methods: Between March 2001 and March 2008, 55 patients (71 feet) who had undergone crescentic osteotomy and distal soft tissue procedure for hallux valgus were followed up for more than one year. The average follow-up period was 15.8 months (12~28 months) and the average age at the time of surgery was 49.8 years (20~69 years). We analyzed the hallux valgus angle (HVA), the first-second intermetatarsal angle (IMA), the length of 1st metatarsal bone and the position of medial sesamoid in preoperative and the last follow-up radiographs. The American Othopeaedic Foot and Ankle Society (AOFAS) score and patient satisfaction were measured by modifying Johnson's method which were used for clinical outcome assessments. Results: The HVA and the IMA were 36.2 and 15.8 degrees preoperatively, and 10.8 and 3.9 degrees at the last follow-up, respectively. The amount of shortening of 1st metatarsal bone averaged $2.3{\pm}1.1$ rum postoperatively. The medial sesamoid position improved from a preoperative average of grade 6.6 to the last follow-up average of grade 1.9. The AOFAS score improved from a preoperative average of 45.3 points to an average 90.6 points at the last follow-up. The patient's satisfaction was completely satisfied in 61 cases (85.9%), satisfied with minor reservations in 6 cases (8.5%), satisfied with major reservations in 2 cases (2.8%), and dissatisfied in 2 cases (2.8%). Conclusion: Proximal crescentic osteotomy produced satisfactory results for moderate to severe hallux valgus deformity.

지역사회 정신보건관련 센터 근무자와 병원 근무자들의 자살에 대한 인식 및 태도 (Awareness and Attitude Toward Suicide in Community Mental Health Professionals and Hospital Workers)

  • 김성남;이강숙;이선영;유재희;홍아름
    • Journal of Preventive Medicine and Public Health
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    • 제42권3호
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    • pp.183-189
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    • 2009
  • Objectives : The purpose of this study was to evaluate community mental health professionals and hospital workers attitude and awareness towards suicide. Methods : This study investigated 264 community mental health professionals and 228 hospital workers. SOQs (Suicidal Opinion Questionnaires) were used from July 2007 to September 2007. After a factor analysis for the attitude towards suicide, the items on ethics, mental illness, religion, risk, and motivation were included in the subsequent analysis. Results : There were significant differences in the attitude towards suicide according to religion, age, educational background, the marriage status, the economic position, and different professional licenses. Hospital workers' view was different from the community workers'. The hospital workers judged that suicide was due to mental illness, and suicide was high for the people in a special environment and who lacked motivation, which caused them to fall in a dangerous situation. For the lower educational group, they thought that suicide was attributable to mental illness. The awareness for suicide was significantly higher in the group with a postgraduate education, unmarried people, mental health professionals and the persons who had concern and experience with suicide. The factors that had an influence on the awareness of suicide were the items of mental illness, religion, risk and motivational factors. Conclusions : This study suggested that the factors to increase the awareness and attitude for suicide were the experience of increased education and case management of suicide. Therefore, education dealing with suicide and reinforcement of crisis management programs should be developed.

GIS 자료를 활용한 지상 바람 관측환경 분석 (Analysis on the Observation Environment of Surface Wind Using GIS data)

  • 권아름;김재진
    • 대한원격탐사학회지
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    • 제31권2호
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    • pp.65-75
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    • 2015
  • 본 연구에서는 전산유체역학 모델과 지리정보시스템 자료를 이용하여 밀양시 내이동에 위치한 자동지상관측소(AWS 288)의 지상 바람 관측환경을 분석하였다. AWS 288 인근 지역에 건축 중인 아파트 단지에 의한 관측환경 변화를 분석하기 위하여 16방위의 유입류를 고려하였다. AWS 위치에서 수치 모의된 풍속과 풍향 변화를 중점적으로 분석하였고, 3가지 유입류(남남서풍, 남남동풍, 북북서풍)에 대해서는 AWS 288 주위의 흐름 특성을 상세하게 분석하였다. 남남서풍의 경우, AWS 288 지점에서는 남서쪽에 위치한 아파트 단지의 영향으로 아파트 단지 건축 전과 후의 풍속 차이가 가장 크게 나타났다. 아파트 단지 건축 전에 상대적으로 높은 풍향 빈도가 나타난 남남동풍과 북북서풍의 경우에는 아파트 단지 건축 전 대비 건축 후의 AWS 288 지점에서 수치 모의된 풍속과 풍향 차이는 크지 않았다.

국내 분리 돼지 부종병 대장균의 병원성 유전자 및 시가독소 생성 검증 (Evaluation of the virulence genes and Shiga toxin-producing abilities of Escherichia coli field isolates causing edema disease in pigs)

  • 서병주;정창기;강아름;조호성;김원일
    • 한국동물위생학회지
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    • 제39권2호
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    • pp.87-92
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    • 2016
  • Porcine edema disease (ED) is a communicable disease of pigs caused by infection with Shiga toxin (Stx)-producing Escherichia coli (STEC) which expresses F18 fimbriae and/or Stx type 2e (Stx2e). While STEC causes a severe illness including hemorrhagic colitis and hemolytic-uremic syndrome in humans, it induces damage to the vascular endothelium, which results in edema, hemorrhage, and microthrombosis, leading in high mortality in pigs. In the present study, we cultured Stx2e-producing E. coli field isolates from conventional pig farms that experienced sudden deaths previously with symptoms similar to porcine edema disease, which were further investigated with Shiga toxin profiles. A total of 43 strains were identified from the collected samples by F18 or Stx2e specific PCR. Based on the PCR, 42 isolates out of 43 isolates were proved to carry one of F18 or Stx2e genes and 14 isolates to carry both F18 and Stx2e genes. All of the 30 isolates that harbored Stx2e gene induced the cytopathic effect (CPE) in vero cells and especially, the isolate 150229 produced the highest level of Shiga toxin. Therefore, we identified the virulence genes (F18 and Stx2e) and demonstrated Shiga toxin-producing abilities from porcine edema disease causing E. coli filed isolates. These results suggested that one of the isolates could be a vaccine antigen candidate against STEC through further investigating to elicit an immune response.

커뮤니티케어 활성화를 위한 농촌지역 경로당 이용 노인과 비이용 노인 간 성공적 노화 관련 요인 비교 (A Comparative Study on the Factors Affecting the Successful Aging between Users and Non-users of Kyung-ro-dang for Community Care Policy Activation)

  • 송그룸;남은우;진기남
    • 보건행정학회지
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    • 제29권4호
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    • pp.412-421
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    • 2019
  • Background: The purpose of this study was to identify the status of Successful Aging among the elderly aged 65 and over in rural areas and to compare factors related with Successful Aging between "kyung-ro-dang" users and non-users. Methods: A total of 181 elderly aged 65 or older were selected from four districts (Heung-upri, Mejiri, Sajerri, and Daeanri) of Wonju city. A survey method using face to face interviews was applied to collect information. Successful aging was measured on a 5-point Likert-type scale using the successful aging scale developed for the Korean elderly, which indicates the higher the score, the higher the level of successful aging. Descriptive statistics, bivariate, and multivariate analyses were computed; the level of significance was set at 5%. Hierarchical polynomial regression was applied to find out the factors associated with successful aging. Results: Of the total, 112 elders used kyung-ro-dang and 69 elders who did not use kyung-ro-dang. The level of successful aging of the elderly was higher among kyung-ro-dang users than non-users. The factors related to successful aging among kyung-ro-dang users were walking and social participation. Users who walk more than 4 times per week and social participation activities have a higher level of satisfaction. In the case of non-users, a higher level of monthly income, having a spouse, social support, and social participation associated with a higher level of successful aging. Conclusion: Monthly income, social participation, and social factors were found to be related to successful aging along with physical and mental health conditions among the elderly in rural areas. Therefore, it can be concluded that income, social as well as mental and physical factors, are more critical for successful aging in the rural community care in Korea.

중년 여성의 체형에 대한 자기 평가 (A Study on Self-Evaluation about Real Body-type of the Middle-Aged Women)

  • 심정희
    • 한국의류학회지
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    • 제27권1호
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    • pp.18-28
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    • 2003
  • The purpose of this study is to provide total data of real body-type and self-evaluation about it. The subjects were 614 middle-aged women between 35 and 59 years old. Data were collected through measurement and a questionnaire survey on self-evaluation. The results of self-evaluation of body are as follows; 1. As the result of the recognition degree analysis, people consider themselves thicker, shorter or smaller than what they really we, regardless of ages and types. In addition, the women of younger group rather than the women of older group consider themselves bigger/thicker and shorter than what they really are. They think that the items of waist girth, abdominal girth, hip girth, upper arm girth. and thigh girth are thicker than the other items, however, among girth items the size of bust girth is smaller than the other items. The women of the late middle-aged group consider their somatotype thicker/bigger and shorter than the women of the early middle-aged group do. 2. As the result of body cathexis for each part, women in general rum out themselves not to be satisfied with their body parts, regardless of ages and types. Particularly, they are not satisfied with abdominal girth, weight, hip girth. According to the age bracket, the women in the older group are more satisfied than the women of younger group in terms of their body. According to somatotype, women in tall and slim groups are more satisfied with their body. The women of the early middle-aged group turn out not to be satisfied with girth items while the women of the late middle-aged group are not satisfied with length items.

한방안이비인후피부과 입원환자의 임상적 고찰 (A Clinical Analysis of Inpatient of Dermatology, Ophthalmology & Otorhinolaryngology)

  • 정아름누리;홍승욱
    • 한방안이비인후피부과학회지
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    • 제21권1호
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    • pp.121-132
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    • 2008
  • Objective : This study was performed to examine the patterns of inpatients that had visited Dept. of Dermatology Hospital of Oriental Medicine, Dongguk University. Methods : We analysed statistic study in 106 patients, who had admitted to the Dept. of Dermatology, Ophthalmology & Otorhinolaryngology Hospital of Oriental Medicine, Dongguk University from July, 2005 to January, 2008. Results : The results were as follows; 1. Males were 50.94% and females were 49.06%. 2. Distribution of aging was 18.87% in twenties and 17.92% in fifties. 3. Common disease group were Facial palsy(33.96%); Atopic dermatitis(21.7%); Tinnitus(7.55%); Sudden Sensorineural Hearing loss(4.72%); Sore throat(5.66%). 4. Average age of Facial palsy patients was 50.9 years old, average hospitalized period were 10.47days and subjective satisfaction rate was 2.56 points on the basis of 4 points. 5. Average age of Atopic dermatitis patient's average age was 22.22 years old, average hospitalized period were 8.35days and subjective satisfaction rate was 3.44 points on the basis of 4 points. 6. 47.2% of all patient were admitted into the hospital on 1st or 2nd outpatient service and 44% of Facial palsy patient were admitted into the hospital via emergency room. 7. All patient's average hospitalized period were 7.5 days. 8. All patient's subjective satisfaction rate were 2.97 points on the basis of 4 points. Conclusion : This study suggests that oriental medical treatments is especially popular in facial palsy and atopic dermatitis. We have to take steps for effective management and treatment for special diseases and ages.

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농가 생산성 증대를 위한 육계 초생추 질병 실태조사 (A survey on diseases to improve productivity in 1-day-old chicks of broiler farms)

  • 고원석;엄성심;조범준;;이병종;이성효;배정준
    • 한국동물위생학회지
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    • 제30권3호
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    • pp.329-338
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    • 2007
  • Samples collected from 15 broiler farms(47 flocks, 920 1-day-old chicks) during March to December, 2006, To survey serum antibody titers of NDV, IBDV and MG/MS, the antibodies of ND viruses were detected by HI test and ELISA, against antibodies of IBD viruses and MG/MS by ELISA. The antibody titers of NDV showed 6.4, HI and 6,968, ELISA, respectively. The rate to below protective antibody levels(${\ge}5$, HI and ${\ge}1,000$, ELISA) were 8%, HI, 5%, ELISA, specially, Baeksemi were 22%, HI, 14%, ELISA. The rate of positive by ELISA showed 99%(914/920). The ELISA titer of IBDV showed mean titer 3,890. The rate of positive were 93% (857/920), specially, Baeksemi were 84%. The ELISA titers of MG/MS showed mean titer 5,666. The rate of positive were 78% (715/920) and 100%, Abor-Acre, 97%, Baeksemi, respectively. The antibodies not detected from 18%, ELISA titers was varied from 500 to 20,000. At antimicrobial susceptibility of E coli, Staphylococcus spp and Salmonella spp isolated from 1-day-old chicks, E coli were susceptible to AmC, AM, NOR, SXT, ENR, CIP, Staphylococcus spp were susceptible to AmC, SXT, AM, ENR and Salmonella spp were susceptible to AM, AmC, SXT and P.