• 대한의생명과학회지
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• 제15권4호
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• pp.363-368
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• 2009

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

• 한국어류학회지
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• 제33권1호
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• pp.37-42
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• 2021

본 연구는 연안에 서식하는 감성돔의 산란생태학적 연구를 위해 2020년 2월부터 2021년 1월까지 통영 연안에서 어획된 시료 총 470개체(가랑이체장 20.5~50.2 cm)를 대상으로 하였다. 통영에 서식하는 감성돔의 월별 생식소숙도지수(GSI) 변화를 통해 암수 모두 동일한 양상을 보이며 4~5월이 산란시기로 추정되었고, 연 1회 산란하는 것으로 확인되었다. 조직학적 검경을 통해 수컷에서 암컷으로 성전환하는 과정을 확인하였으며, 전기자웅동체(MF)는 20.5~39.6 cm에서 보였고, 후기자웅동체(FM)는 26.4~50.2 cm에서 보였다. 난경은 0.02~0.60 mm 범위였으며, 2월에 평균 난경은 0.09 mm로 가장 작았고, 8월에 평균 난경은 0.43 mm 가장 높았고, 포란수는 277,148 (33.9 cm)~2,772,421 (34.1 cm)립의 범위를 보였다.

• 한국양식학회지
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• 제11권2호
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• pp.173-182
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• 1998

이 연구는 붉바리의 생시고 발달과정과 $17^{\alpha}$-methyltestosterone 처리에 의한 웅성화 및 생식소내 생식세포의 변화 과정을 조사하였다. 그 결과, 사육 수조 내에서 붉바리의 생식소 숙도지수와 간 숙도지수의 년중 변화는 붉바리 암컷의 경우 실험구와 대조구에서 생식소 숙도지수는 2월부터 증가하기 시작하여 8월에 가장 높았으며 9월부터 감소하기 시작하여 1월까지 상대적으로 매우 낮은 수치를 나타내었다. 그리고, 수컷과 간성(intersex)의 경우 생식소 숙도 지수는 6월 이수에 감소하였다. 한편 대조구의 붉바리 간숙도 지수는 9월에 가장 낮았으며 난소의 성장기인 4월에서 5월경에 상대적으로 높은 값을 보였으나 실험구에 비해서 상대적으로 훨씬 낮은 값을 보였다. 그러나, 실험 기간 동안 비록 실험구의 간숙도 지수가 대조구보다 높았지만 월변화 추이는 대조구와 비슷한 경향을 나타내었다, 성변환(sex inversion)을 유도하기 위하여 ($17^{\alpha}$)-methyltestosterone (MT)을 어체중 kg당 0.2 mg과 0.5 mg을 120일 동안 경구 투여한 결과 기능적 웅성화 유도를 위해서는 MT 0.5 mg/kg-BW 농도가 MT 0.2 mg/kg-BW 농도보다 적합한 것으로 나타났다. 기능적 수컷의 변환율을 알기 위한 MT 0.5 mg/kg-BW 농도의 처리수에서 기능적 수컷은 전장 28.8 cm와 33.5 cm사이의 개체들에서 관찰할 수 있어서 $17^{\alpha}$-methyltestosterone을 사용한 수컷 유도는 전장 30 cm 이상의 개체들 대상으로 하는 것이 효과적인 것으로 나타났다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제12권1호
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• pp.71-78
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• 2001

연구 목적：본 연구는 이전의 연구들이 9번 염색체의 전위와 연관된 정신과적 특성이나 발달학적인 측면에 다루지 않았던 것에 주목, 정신과적인 문제 중 언어나 운동 발달의 지연, 지능저하, 성장지연 등과 같은 아동기의 발달학적인 문제와 행동문제에 초점을 맞추어 9번 염색체의 전위와 어떤 연관성이 있는지의 여부에 대해 알아보기로 하였다. 방 법：1) 1984년부터 2000년까지 서울대학교병원 인구의학연구소에 유전학적 검사가 의뢰된 환자들 중 9번 염색체 전위로 결과가 나온 증례들을 수집하였다. 검사를 의뢰한 진료과, 의뢰한 이유 등에 대한 정보를 얻었다. 2) 9번 염색체 전위를 지닌 소아 청소년 12명을 환아군으로 선정하고 성별, 나이 등이 일치하는 학생 45명을 대조군으로 선정하여 부모에게 과거력조사설문지와 아동청소년 행동평가척도(Korean Child Behavior Check List, 이하 K-CBCL로 약칭)를 배부, 작성하도록 하였다. 결 과：1) 9번 염색체 전위로 결과가 나온 165례 중 검사 의뢰 진료과의 분포는 산부인과(47.3%), 소아과(23.6%), 소아정신과(17.0%)의 순으로 나타났고, 소아과와 소아정신과에서 검사가 의뢰된 경우(67례), 의뢰한 주 이유는 지능저하(35.8%), 언어 또는 운동발달지연(31.3%), Fragile X 증후군 의심(23.9%), 성장지연(20.9%)의 순이었다. 2) K-CBCL 결과상 사회적 미성숙 척도에서 임상범위에 해당된 비율이 환아군에서 대조군에 비해 유의하게 높았고, 환아군이 대조군보다 언어나 운동 발달 영역에서 발달이 늦는 것으로 나타났다. 결 론：본 연구는 9번 염색체의 전위와 연관된 발달학적인 측면을 다룬 최초의 연구로 아동기의 발달학적인 문제나 행동문제에 있어서 연관성을 시사하는 결과를 보였다. 정신과적인 문제와 연관된 유전자의 다양한 표현형을 밝혀 나가는 토대가 되기를 기대해 본다.

• The International Journal of Costume Culture
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• 제3권1호
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• pp.21-29
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• 2000

The purpose of this study was to analyze the 21C Fashion's expression related to 'Verfremdung' theory, in aesthetic theories established after modern times, and then to examine a new meaning and value. The expressions of 'Verfremdung(estrangement)' in modern fashion, appear the followings: 1) placing distance with traditional sex and rational beauty of body. 2) paradox of inversion, 3) illogical juxtapositions by encounter. 4) dismantlement of material concept etc. After showing practically production technique that breaks traditional exception, that is, a new design method of open concept which drives positive idea about discrepancy of realities. This trial has warning abut art's self-control occurring at the time when aesthetic disinterestedness theory is expanded, and is considered indictment about a inhuman property of modern civilization and culture, and is considered expression of will to show alienation by it.

• Journal of Genetic Medicine
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• 제7권1호
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• pp.1-8
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• 2010

Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor VIII, and in turn the severity of bleeding episodes and development of alloantibodies against factor VIII (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.

• Clinical and Experimental Reproductive Medicine
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• 제18권2호
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• pp.223-231
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• 1991

During the years 1984 to 1989, in order to determine of chromosome abnormalities are associated with recurrent spontaneous abortions, cytogenetic studies were performed 384 couples. Abnormal karyotypes were found in 51(13.3%) couples. There was no apparent relation with the number of abortions. The abnormalities were as follows: 17(4.4%) balanced translocation; 15(3.9%) mosaicisms; 17(4.4%) pericentric inversion; 2(0.5%) addition or isochromosome. Chromosome abnormalities were observed in 34(67%) of the wives and 17(33%) of the husbands. In addition, we detected polymorphic variants of chromosomes in 89(23.2%) subjects. Reciprocal translocations(13/17) were more common than the robertsonian type(4/17). All of the mosaicisms were associated with the sex chromosomes in 10 females and 5 males subjects. Pericentric inversions were most common in chromosome 9. Compared to previously studied general populations, significantly higher frequencies of translocations, mosaicisms and inversions were found in couples with repetitive spontaneous abortion. This suggests that couples should have chromosome studies after two or more abortions.

• Investigative Magnetic Resonance Imaging
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• 제23권3호
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• pp.241-250
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• 2019

Purpose: The purpose of this study was to determine the relation between quantitative magnetic resonance imaging biomarkers, and clinical performances in chronic phase of carbon monoxide intoxication. Materials and Methods: Eighteen magnetic resonance scans and cognitive evaluations were performed, on patients with carbon monoxide intoxication in chronic phase. Apparent diffusion coefficient (ADC) ratios of affected versus unaffected centrum semiovale, and corpus callosum were obtained. Signal intensity (SI) ratios between affected centrum semiovale, and normal pons in T2-FLAIR (fluid-attenuated inversion recovery) images were obtained. The Mini-Mental State Exam, and clinical outcome scores were assessed. Correlation coefficients were calculated, between MRI and clinical markers. Patients were further classified into poor-outcome and good-outcome groups based on clinical performance, and imaging parameters were compared. T2-SI ratio of centrum semiovale was compared, with that of 18 sex-matched and age-matched controls. Results: T2-SI ratio of centrum semiovale was significantly higher in the poor-outcome group, than that in the good-outcome group and was strongly inversely correlated, with results from the Mini-Mental State Exam. ADC ratios of centrum semiovale were significantly lower in the poor outcome group than in the good outcome group, and were moderately correlated with the Mini-Mental State Exam score. Conclusion: A higher T2-SI and a lower ratio of ADC values in the centrum semiovale, may indicate presence of more severe white matter injury and clinical impairment. T2-SI ratio and ADC values in the centrum semiovale, are useful quantitative imaging biomarkers for correlation with clinical performance in individuals with carbon monoxide intoxication.

• Clinical and Experimental Reproductive Medicine
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• 제29권4호
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• pp.269-278
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• 2002

Objective s: Chromosome aneuploidy is associated with recurrent abortion and congenital anomaly and genetic diseases occur repeatedly in the specific families. Preimplantation genetic diagnosis (PGD) can prevent aneuploidy or genetic disease by selecting normal embryos before implantation and is an alternative to prenatal diagnosis. The aim of this study is to assess the outcome of PGD cycles by using FISH or PCR, and to determine the clinical usefulness and values in patients with risk of chromosomal aneuploidy or genetic disease. Materials and Methods: From 1995 to Apr. 2001, a total of 108 PGD cycles in 65 patients with poor reproductive outcome were analyzed. The indications of PGD were translocation (n=49), inversion (n=2), aneuploidy screening (n=7), Duchenne muscular dystrophy (n=5) and spinal muscular atrophy (n=2). PGD was applied due to the history of recurrent abortion, previous birth of affected child or risk of aneuploidy related to sex chromosome aneuploidy or old age. Blastomere biopsy was performed in 6$\sim$10 cell stage embryo after IVF with ICSI. In the single blastomere, chromosome aneuploidy was diagnosed by using FISH and PCR was performed for the diagnosis of exon deletion in DMD or SMA. Results: The FISH or PCR amplification was successful in 94.3% of biopsied blastomeres. The rate of transferable balanced emb ryos was 24.0% in the chromosome translocation and inversion, 57.1% for the DMD and SMA, and 28.8% for the aneuploidy screening. Overall hCG positive rate per transfer was 17.8% (18/101) and clinical pregnancy rate was 13.9% (14/101) (11 term pregnancy, 3 abortion, and 4 biochemical pregnancy). The clinical pregnancy rate of translocation and inversion was 12.9% (11/85) and abortion rate was 27.3% (3/11). In the DMD and SMA, the clinical pregnancy rate was 33.3% (3/9) and all delivered at term. The PGD results were confirmed by amniocentesis and were correct. When the embryos developed to compaction or morula, the pregnancy rate was higher (32%) than that of the cases without compaction (7.2%, p<0.01). Conclusions: PGD by using FISH or PCR is useful to get n ormal pregnancy by reducing spontaneous abortion associated with chromosome aneuploidy in the patients with structural chromosome aberration or risk of aneuploidy and can prevent genetic disease prior to implantation.

• 대한족부족관절학회지
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• 제24권2호
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• pp.87-93
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• 2020

Purpose: This study evaluated the clinical results of surgical treatment with minimally invasive plate osteosynthesis for treating displaced intra-articular fractures of the calcaneus in comparison with conventional lateral extensile approach plate osteosynthesis. Materials and Methods: Of 79 cases of Sanders type II or III calcaneus fractures, 15 cases treated with the minimally invasive calcaneal plate (group M) and 64 cases treated with lateral extensile approach calcaneal plate (group E) were identified. After successful propensity score matching considering age, sex, diabetes mellitus history, and Sanders type (1:3 ratio), 15 cases (group M) and 45 cases (group E) were matched and the demographic, radiologic, and clinical outcomes were compared between the two groups. Results: The median time of surgery from injury was 2.0 days in group M and 6.0 days in group E (p=0.014). At the six months follow-up, group M showed results comparable with those of group E in radiographic outcomes. In the clinical outcomes, group M showed better postoperative American Orthopaedic Foot and Ankle Society (AOFAS) and visual analogue scale (VAS) scores than did group E (p=0.001, p=0.008). A greater range of subtalar motion was achieved at the six months follow-up in group M (inversion 20.0° vs. 10.0°, p=0.002; eversion 10.0° vs. 5.0°, p=0.025). Although there were no significant differences in complications between the two groups (1 [6.7%] vs. 7 [15.6%], group M vs. group E; p=0.661), there was only one sural nerve injury and no wound dehiscence and deep infection in group M. Conclusion: Minimally invasive plate osteosynthesis showed superior clinical outcomes compared with that of the conventional lateral extensile approach plate osteosynthesis in Sanders type II or III calcaneus fractures. We suggest applying minimally invasive plate osteosynthesis in Sanders type II or III calcaneus fractures.