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Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier (무정자증을 보이는 남성과 정상 생식력을 가진 여성의 가계에서 관찰된 X 염색체의 Pericentric Inversion)

  • Lee, Bom-Yi;Ryu, Hyun-Mee;Lee, Moon-Hee;Park, Ju-Yeon;Kim, Jin-Woo;Lee, Joong-Shik;Kim, Hye-Ok;Kim, Min-Hyung;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.139-144
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    • 2008
  • We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

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Radiation Adaptive Response Induced by I-131 Therapy in Patients with Differentiated Thyroid Cancer (분화 갑상선암 환자에서 I-131 치료에 의해 유도되는 방사선적응반응)

  • Li, Ming-Hao;Bom, Hee-Seung
    • The Korean Journal of Nuclear Medicine
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    • v.35 no.2
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    • pp.83-88
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    • 2001
  • Purpose: The purpose of this study was to ascertain whether radiation adaptive response could be induced by high dose I-131 therapy in patients with differentiated thyroid cancer. Materials and Methods: Lymphocytes from 21 patients (7 males, 14 females, mean age $55{\pm}12$ years) were collected before and after administration of 5,550 MBq (150 mCi) I-131. They were exposed to a challenge dose of 1 Gy gamma rays using a Cs-137 cell irradiator. The number of ring-form (R) and dicentric (D) chromosomes was counted under the light microscope, and used to calculate the frequency of chromosomal aberration. Ydr, which was defined as the sum of R and D divided by the total number of counted lymphocytes. Results: Ydr in patients before I-131 therapy ($0.09{\pm}0.01$) was not different from that of controls ($0.08{\pm}0.01$). Ydr was significantly increased to $0.13{\pm}0.02$ (p<0.0001) after I-131 therapy. Increase of Ydr after the challenge irradiation of 1 Gy was significantly lower in patients after I-131 therapy than before I-131 therapy ($0.17{\pm}0.03\;vs\;0.21{\pm}0.02$, p<0.0001). Cycloheximide (CHM), an inhibitor of protein synthesis, abolished this effect. Ydr after CHM ($0.20{\pm}0.01$) was significantly higher than Ydr after I-131 therapy ($0.17{\pm}0.03$, p<0.0001), but was not different from Ydr before I-131 therapy ($0.21{\pm}0.02$).Conclusion: High dose I-131 therapy induces an adaptive response in peripheral lymphocytes of patients with well-differentiated thyroid cancer, which is associated with protein synthesis.

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Evaluation of Multiple System Atrophy and Early Parkinson's Disease Using $^{123)I$-FP-CIT SPECT ($^{123)I$-FP-CIT SPECT를 이용한 다중계위축증 및 조기 파킨슨병에서의 평가)

  • Oh, So-Won;Kim, Yu-Kyeong;Lee, Byung-Chul;Kim, Bom-Sahn;Kim, Ji-Sun;Kim, Jong-Min;Kim, Sang-Eun
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.1
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    • pp.10-18
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    • 2009
  • Purpose: We investigated quantification of dopaminergic transporter (DAT) and serotonergic transporter (SERT) on $^{123}I$-FP-CIT SPECT for differentiating between multiple systemic atrophy (MSA) and idiopathic Parkinson's disease (IPD). Materials and Methods: N-fluoropropyl-$2{\beta}$-carbomethoxy-$3{\beta}$-4-[$^{123}I$]-iodophenylnortropane SPECT ($^{123}I$-FP-CIT SPECT) was performed in 8 patients with MSA (mean age: $64.0{\pm}4.5yrs$, m:f=6:2), 13 with early IPD (mean age: $65.5{\pm}5.3yrs$, m:f=9:4), and 12 healthy controls (mean age: $63.3{\pm}5.7yrs$, m:f=8:4). Standard regions of interests (ROls) of striatum to evaluate DAT, and hypothalamus and midbrain for SERT were drawn on standard template images and applied to each image taken 4 hours after radiotracer injection. Striatal specific binding for DAT and hypothalamic and midbrain specific binding for SERT were calculated using region/reference ratio based on the transient equilibrium method. Group differences were tested using ANOVA with the postHoc analysis. Results: DAT in the whole striatum and striatal subregions were significantly decreased in both patient groups with MSA and early IPD, compared with healthy control (p<0.05 in all). In early IPD, a significant increase in the uptake ratio in anterior and posterior putamen and a trend of increase in caudate to putamen ratio was observed. In MSA, the decrease of DAT was accompanied with no difference in the striatal uptake pattern compared with healthy controls. Regarding the brain regions where $^{123}I$-FP-CIT binding was predominant by SERT, MSA patients showed a decrease in the binding of $^{123}I$-FP-CIT in the pons compared with controls as well as early IPD patients (MSA: $0.22{\pm}0.1$ healthy controls: $0.33{\pm}0.19$, IPD: $0.29{\pm}0.19$), however, it did not reach the statistical significance. Conclusion: In this study, the differential patterns in the reduction of DAT in the striatum and the reduction of pontine $^{123}I$-FP-CIT binding predominant by SERT could be observed in MSA patients on $^{123}I$-FP-CIT SPECT. We suggest that the quantification of SERT as well as DAT using $^{123}I$-FP-CIT SPECT is helpful to differentiate parkinsonian disorders in early stage.

Correlation between Semiquantitative Myocardial Perfusion Score and Absolute Myocardial Blood Flow in $^{13}N-Ammonia$ PET ($^{13}N$-암모니아 PET에서 반정량적 심근관류 점수와 절대적 심근혈류량의 상관관계)

  • Lee, Byeong-Il;Kim, Kye-Hun;Kim, Jung-Young;Kim, Su-Jin;Lee, Jae-Sung;Min, Jung-Joon;Song, Ho-Chun;Bom, Hee-Seung
    • Nuclear Medicine and Molecular Imaging
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    • v.41 no.3
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    • pp.194-200
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    • 2007
  • Purpose: $^{13}N$-ammonia is a well known radiopharmaceutical for the measurement of a myocardial blood flow (MBF) non-invasively using PET-CT. In this study, we investigated a correlation between MBF obtained from dynamic imaging and myocardial perfusion score (MPS) obtained from static imaging for usefulness of cardiac PET study. Methods: Twelve patients (11 males, 1 female, $57.9{\pm}8.6$ years old) with suspicious coronary artery disease underwent PET-CT scan. Dynamic scans (6 min: $5\;sec\;{\times}\;12,\;10\;sec\;{\times}\;6,\;20\;sec\;{\times}\;3,\;and\;30\;sec\;{\times}\;6$) were initiated simultaneously with bolus injection of 11 MBq/kg $^{13}N-ammonia$ to acquire rest and stress image. Gating image was acquired during 13 minutes continuously. Nine-segment model (4 basal walls, 4 mid walls, and apex) was used for a measurement of MBF. Time activity curve of input function and myocardium was extracted from ROI methods in 9 regions for quantification. The MPS were evaluated using quantitative analysis software. To compare between 20-segment model and 9-segment model, 6 basal segments were excluded and averaged segmental scores were used. Results: There are weak correlation between MBF (rest, 0.18-2.38 ml/min/g; stress, 0.40-4.95 ml/min/g) and MPS (rest 22-91%, stress, 14-90%), however the correlation coefficient between corrected MBF and MPS in rest state was higher than stress state (rest r=0.59; stress r=0.80). As a thickening increased, correlation between MBF and MPS also showed good correlation at each segments. Conclusions: Corrected and translated MPS as its characteristics using $^{13}N$-ammonia showed good correlation with absolute MBF measured by dynamic image in this study. Therefore, we showed MPS is one of good indices which reflect MBF. We anticipate PET-CT could be used as useful tool for evaluation of myocardial function in nuclear cardiac study.

Physicochemical and Biological Properties of Constructed Small-scale Ponds for Ecological Improvement in Paddy Fields (논 생태 증진을 위해 설치된 둠벙의 물리.화학적 및 생물학적 특성)

  • Kim, Jae-Ok;Shin, Hyun-Sang;Yoo, Ji-Hyun;Lee, Seung-Heon;Jang, Kyu-Sang;Kim, Bom-Chul
    • Korean Journal of Ecology and Environment
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    • v.44 no.3
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    • pp.253-263
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    • 2011
  • This study was conducted to gain preliminary data for restoration and management of constructed small-scale ponds in paddy fields through analysis of their physicochemical and biological properties. A field survey was performed at 13 small-scale ponds located in paddy fields from August 2009 to October 2010. Structural properties, water quality, soil characteristics and fish fauna were measured. Results showed that small-scale ponds without frames might lose their function over time because of crumbling walls. Therefore, it is necessary for these ponds to have frames for soil protection and sustainable maintenance. Chemical oxygen demand (COD), total nitrogen (TN) and total phosphorus (TP) concentration were higher than the water quality standard for agricultural water in small-scale ponds. In particular, TN concentration was 8.03 mg $L^{-1}$ and over 8 times the water quality standard because of the presence of livestock such as cows and pigs in the study areas. Sand, organic matter and available phosphorus contents of soil in small-scale ponds was 53.4${\pm}$16.6%, 21.8${\pm}$9.74 g $kg^{-1}$ and 12.8${\pm}$7.59 mg $kg^{-1}$, respectively indicating that sand and available phosphorus contents were suitable for plants in small-scale ponds, but organic matter contents was somewhat low in newly constructed small-scale ponds, and would take some time to stabilize for plant growing. Fish fauna was not diverse with only 4 species at all sites surveyed. Collected fishes share a common feature that they all inhabit paddy fields or canals with shallow water depth. In this study, all ponds were not linked to the streams and canals around them. It appears that connection to adjacent streams was the major factor controlling fish fauna in small-scale ponds. The results of statistical analysis were classified into three groups. Factor 1 was 26.3%, which shows a structural properties such as area and depth of small-scale pond. As for factor 2, it appears on 20.1%, showing water quality like a TP, suspended solids (SS) and COD. Small-scale ponds were classified into three groups by factor scores. Group I consisted of 6 small-scale ponds, which were larger than the others. Group III had higher water quality than the others. We conclude that the most important points to be considered for restoration and management of small-scale ponds is connection with adjacent streams or ditches and depth and size of the small-scale pond.

The Usefulness of F-18 FDG PET to Discriminate between Malignant and benign Nodule in Idiopathic Pulmonary Fibrosis (특발성 폐섬유증에서 발견된 폐결절의 악성여부 감별에서 F-18 FDG PET의 유용성)

  • Kim, Bom-Sahn;Kang, Won-Jun;Lee, Dong-Soo;Chung, June-Key;Lee, Myung-Chul
    • Nuclear Medicine and Molecular Imaging
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    • v.40 no.3
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    • pp.163-168
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    • 2006
  • Purpose: Incidence of lung canter in patients with idiopathic pulmonary fibrosis (IPF) is known to be higher than that in general population. However, it is difficult to discriminate pulmonary nodule in patients with IPF, because underlying IPF can be expressed as lung nodules. We evaluated the diagnostic performance of FDG PET in discriminating lung nodule in patients with IPF. Methods: We retrospectively reviewed 28 lung nodules in 16 subjects (age; $67.53{\pm}9.53$, M:F=14:2). Two patients had previous history of malignant cancer (small cell lung cancer and subglottic cancer). The diagnostic criteria on chest CT were size, morphology and serial changes of size. FDG PET was visually interpreted, and maximal SUV was calculated for quantitative analysis. Results: from 28 nodules, 18 nodules were interpreted as benign nodules, 10 nodules as malignant nodules by histopahthology or follow-up chest CT. The sensitivity and specificity of FDG PET were 100% and 94.4%, while those of CT were 70.0% and 44.4%, respectively. Malignant nodule was higher maxSUV than that of benign lung nodules ($7.68{\pm}3.96\;vs.\;1.22{\pm}0.65$, p<0.001). Inflammatory lesion in underlying IPF was significantly lower maxSUV than that of malignant nodules ($1.80{\pm}0.43$, p<0.001). The size of malignant and benign nodule were $23.95{\pm}10.15mm\;and\;10.83{\pm}5.23mm$ (p<0.01). Conclusion: FDG PET showed superior diagnostic performance to chest CT in differentiating lung nodules in patients with underlying IPF. FDG PET could be used to evaluate suspicious malignant lung nodule detected by chest in patients with IPF.

Distribution of Fish in Paddy Fields and the Effectiveness of Fishways as an Ecological Corridor between Paddy Fields and Streams (소규모 어도 설치에 따른 논 주변 생태계의 연계성 평가)

  • Kim, Jae-Ok;Shin, Hyun-Sang;Yoo, Ji-Hyun;Lee, Seung-Heon;Jang, Kyu-Sang;Kim, Bom-Chul
    • Korean Journal of Ecology and Environment
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    • v.44 no.2
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    • pp.203-213
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    • 2011
  • Agriculture modern environments can vary due to factors such as land consolidation and ditch enhancement projects. But, these improvements projects can include cover-ing-up of irrigation ditches with concrete, increasing the drop between paddy field and drainage ditches, which might decrease the abundance and diversity of fish fauna around paddy fields. In this study, for the management of agrobiodiversity on fish in paddy fields, we installed a small-scale fishways between paddy fields and drainage ditches, and evaluated the effects on the eco-connection of the paddy fields, ditches and stream. Five fish species were recovered at the drainage ditches. The species exhibited characteristics spawning and growth based on the paddy field. The results indicate that the five fish species could ascend the paddy fields through the small-scale fishways. There are no difference of species numbers at ditches of environment-friendly agriculture paddy fields (A) and good agricultural practices (B) region, but individual numbers were higher at the B region. This result could be interpreted as indicating that ditch diversity was affected by positional properties rather than farming practices because the water flow and connection to adjacent stream of B region were better than A region. After ascertaining the fish species capable of ascending in a pre-survey of the drainage ditches, we set up small-scale fishways at the drop between paddy fields and drainage ditches. Three species of fish (Aphyocypris chinensis, Misgurnus anguillicaudatus, M. mizolepis) arrived at the paddy fields via small-scale fishways. The main movement time was from 18:00~24:00 and 00:00~06:00, indicating a preference for the night time period rather than the day period for migration. Concentrating the operation time from night to dawn seems prudent for effective management of small-scale fishways.

Bloom-forming Cyanobacteria in Yongdam Lake (1) Nutrient limitation in a Laboratory Strain of a Nitrogen-fixing Cyanobacterium, Anabaena spiroides v. crassa (용담호 녹조현상의 원인 남세균 연구 (1) 질소고정 남세균 Anabaena spiroides v. crassa 종주와 영양염 제한)

  • Park, Jong-Woo;Kim, Young-Geel;Heo, Woo-Myung;Kim, Bom-Chul;Yih, Won-Ho
    • The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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    • v.11 no.4
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    • pp.158-164
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    • 2006
  • Yongdam Lake is the fifth largest artificial lake in Korea newly formed by the first impounding the Yongdam Multi-purpose Dam on December, 2002. Yongdam Lake, with her total water storage of 820 million M/T, is located at the roof-top region of the streams flowing into the just-constructed new Saemankeum Lake. Seasonal succession of phytoplakton in Yongdam Lake might affect cyanobacterial blooms in Saemankeum Lake by inoculating seasonal dominants. During 2002-2003 when the first impounding after the construction of Yongdam Multi-purpose Dam was still undergoing, summer cyanobacterial blooms by Anabaena, Microcystis, and Aphanizomenon were observed. Among these three, filamentous Anabaena is well known to have its species with $N_2-fixing$ ability and special cells such as heterocysts and akinetes as well as the vegetative cells. We established a clonal culture of Anabaena spiroides v. crasse (KNU-YD0310) from the live water samples collected at the bloom site of Yongdam Lake. The N- and P-nutrient requirement of the KNU-YD0310 was explored by the experimental cultivation of the laboratory strain. Ratio of heterocysts to vegetative cells increased as N-deficiency extended with its maximum at $N_2-fixing$ condition. The strain KNU-YD0310 exhibited considerable growth under N-limiting conditions while its growth was proportional to the initial phosphate-P concentration under P-deficient conditions. Under P-limiting conditions akinete density increased, which could be interpreted as an adaptation strategy to survive severe environment by transforming into resting stage. The above eco-physiological characteristics of Anabaena spiroides v. crassa might be useful as an ecological criterion in controlling cyanobacterial blooms at Shaemankeum Lake in near future.

Development and Assessment Individual Maximum Permissible Dose Method of I-131 Therapy in High Risk Patients with Differentiated Papillary Thyroid Cancer (물리학 선량법을 이용한 갑상선암의 개인별 최대안전용량 I-131 치료법 개발과 유용성 평가)

  • Kim, Jeong-Chul;Yoon, Jung-Han;Bom, Hee-Seung;JaeGal, Young-Jong;Song, Ho-Chun;Min, Jung-Joon;Jeong, Heong;Kim, Seong-Min;Heo, Young-Jun;Li, Ming-Hao;Park, Young-Kyu;Chung, June-Key
    • The Korean Journal of Nuclear Medicine
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    • v.37 no.2
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    • pp.110-119
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    • 2003
  • Purpose: Radioiodine (I-131) therapy is an effective modality to reduce both recurrence and mortality rates in differentiated thyroid cancer. Whether higher doses shows higher therapeutic responses was still debatable. The purpose of this study was to validate curve-fitting (CF) method measuring maximum permissible dose (MPD) by a biological dosimetry using metaphase analysis of peripheral blood lymphocytes. Materials and Methods: Therapeutic effects of MPD was evaluated in 58 patients (49 females and 9 males, mean age $50{\pm}11$ years) of papillary thyroid cancer. Among them 43 patients were treated with ${\Leq}7.4GBq$, while 15 patients with ${\geq}9.25GBq$. The former was defined as low-dose group, and the latter high-dose group. Therapeutic response was defined as complete response when complete disappearance of lesions on follow-up I-131 scan and undetectable serum thyroglobulin levels were found. Statistical comparison between groups were done using chi-square test. P value less than 0.05 was regarded as statistically significant. Results: MPD measured by CF method using tracer and therapeutic doses were $13.3{\pm}1.9\;and\;13.8{\pm}2.1GBq$, respectively (p=0.20). They showed a significant correlation (r=0.8, p<0.0001). Exposed doses to blood measured by CF and biological methods were $1.54{\pm}0.03\;and\;1.78{\pm}0.03Gy$ (p=0.01). They also showed a significant correlation (r=0.86, p=0.01). High-dose group showed a significantly higher rate of complete response (12/15, 80%) as compared to the low-dose group (22/43, 51.2%) (p=0.05). While occurrence of side effects was not different between two groups (40% vs. 30.2%, p=0.46). Conclusion: Measurement of MPD using CF method is reliable, and the high-dose I-131 therapy using MPD gains significantly higher therapeutic effects as compared with low-dose therapy.