• Title/Summary/Keyword: cytogenetic

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No benefit of hypomethylating agents compared to supportive care for higher risk myelodysplastic syndrome

  • Sohn, Sang Kyun;Moon, Joon Ho;Lee, In Hee;Ahn, Jae Sook;Kim, Hyeoung Joon;Chung, Joo Seop;Shin, Ho Jin;Park, Sung Woo;Lee, Won Sik;Lee, Sang Min;Kim, Hawk;Lee, Ho Sup;Kim, Yang Soo;Cho, Yoon Young;Bae, Sung Hwa;Lee, Ji Hyun;Kim, Sung Hyun;Song, Ik Chan;Kwon, Ji Hyun;Lee, Yoo Jin
    • The Korean journal of internal medicine
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    • v.33 no.6
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    • pp.1194-1202
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    • 2018
  • Background/Aims: This study evaluated the role of hypomethylating agents (HMA) compared to best supportive care (BSC) for patients with high or very-high (H/VH) risk myelodysplastic syndrome (MDS) according to the Revised International Prognostic Scoring System. Methods: A total of 279 H/VH risk MDS patients registered in the Korean MDS Working Party database were retrospectively analyzed. Results: HMA therapy was administered to 205 patients (73.5%), including 31 patients (11.1%) who then received allogeneic hematopoietic cell transplantation (allo-HCT), while 74 patients (26.5%) received BSC or allo-HCT without HMA. The 3-year overall survival (OS) rates were $53.1%{\pm}10.7%$ for allo-HCT with HMA, $75%{\pm}21.7%$ for allo-HCT without HMA, $17.3%{\pm}3.6%$ for HMA, and $20.8%{\pm}6.9%$ for BSC groups (p < 0.001). In the multivariate analysis, only allo-HCT was related with favorable OS (hazard ratio [HR], 0.356; p = 0.002), while very poor cytogenetic risk (HR, 5.696; p = 0.042), age ${\geq}65years$ (HR, 1.578; p = 0.022), Eastern Cooperative Oncology Group performance status (ECOG PS) 2 to 4 (HR, 2.837; p < 0.001), and transformation to acute myeloid leukemia (AML) (HR, 1.901; p = 0.001) all had an adverse effect on OS. Conclusions: For the H/VH risk group, very poor cytogenetic risk, age ${\geq}65years$, ECOG PS 2 to 4, and AML transformation were poor prognostic factors. HMA showed no benefit in terms of OS when compared to BSC. Allo-HCT was the only factor predicting a favorable long-term outcome. The use of HMA therapy did not seem to have an adverse effect on the transplantation outcomes. However, the conclusion of this study should be carefully interpreted and proven by large scale research in the future.

Cytogenetic Properties of Bovine Reconstituted Embryos by Cell Cycle-Controlled Nuclear Transfer (소 수정란의 세포주기조절 핵이식에 의한 재구축배의 세포학적 특성)

  • Cheong, H.T.;Park, C.K.;Yang, B.K.;Kim, C.I.
    • Korean Journal of Animal Reproduction
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    • v.23 no.3
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    • pp.271-278
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    • 1999
  • This study was conducted to investigate the cytogenetic properties, in vitro development, and their relationship in the bovine reconstituted embryos following cell cycle-controlled nuclear transfer. Sixteen-cell stage embryos were treated by nocodazole, and after release from nocodazole treatment, their blastomeres were separated and allowed to subsequent cleavage. Blastomeres within 1.5 h post cleavage(hpc) and at 3hpc were transferred to enucleated oocytes at MII-phase or S-phase. Donor nuclei transferred into M II-phase recipients underwent various nuclear remodeling, such as extrusion of a polar body(PB)-like structure, premature chromosome condensation(PCC) and chromatin modifications. These nuclear remodeling patterns varied by the time post cleavage of donor blastomeres. Developmental rate to the blastocyst stage differed with time post cleavage of donor blastomeres and existence of a PB-like structure. Whereas do-nor nuclei transferred into S-phase oocytes did not undergo PCC and other major modifications, and their developmental potentials less depended on the nuclei types. This result confirms that the nuclear remodeling type differs with donor and recipient cell cycle stage, which affect the development of reconstituted bovine embryos.

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Genetic Characterization, Morphometrics and Gonad Development of Induced Interspecific Hybrids between Yellowtail Flounder, Pleuronectes ferrugineus (Storer) and Winter Flounder, Pleuronectes americanus (Walbaum)

  • Park, In-Seok;Nam, Yoon-Kwon;Susan E. Douglas;Stewart C. Johnson;Kim, Dong-Soo
    • Proceedings of the Korean Aquaculture Society Conference
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    • 2003.10a
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    • pp.28-28
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    • 2003
  • Viable interspecific hybrids between yellowtail flounder (Pleuronectes ferrugineus, Store.) and winter flounder (Pleuronectes americanus, Walbaum) were produced by artificial insemination of yellowtail flounder eggs with winter flounder sperm. However, mean fertilization rate, hatching success and early survival up to 3 weeks post hatch were significantly lower than those of parental pure cross controls (P<0.01). Overall, cytogenetic traits (karyological analysis and estimation of cellular DNA contents using flow cytometry) of hybrid flounder were intermediate between the two parental species. Microsatellite assay was used to distinguish the parental genomes in the hybrids; in most cases, one allele was specific to each of the parents. Morphometrics assessed by body proportions indicated that hybrids generally displayed a morphology intermediate between the maternal and paternal species. Interspecific hybrids exhibited abnormal and retarded gonad development in both sexes based on histological analysis of gonads from adult fish. The sterility of the hybrids presents a significant advantage for their use in aquaculture, as potential escapees would not be capable of reproducing in the wild and contaminating natural stocks.

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Study on the Analysis of Chromosome Abnormality by Flow Cytometric and Cytogenetic Methods (유식세포분리기와 세포유전학적 방법에 의한 염색체이상 분석에 관한 연구)

  • Baik, C.S.;Kim, M.K.;Lee, S.M.;Kim, J.H.;Baik, Y.K.;Lee, H.T.;Chung, K.S.
    • Clinical and Experimental Reproductive Medicine
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    • v.23 no.1
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    • pp.73-79
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    • 1996
  • 골수나 유산물질에 대한 세포유전학적 검사에 있어 통상적인 염색체검사는 검사에 적합한 중기핵상을 얻기 어려워 실패하는 경우가 많다. 이러한 경우에 진단이나 치료에 도움을 줄 수 있는 방법으로 유식세포분리기를 사용하여 단일 세포내 DNA량에 따른 aneuploidy를 추적할 수 있는 가를 확인하기 위해 본 실험을 실시하였다. 79 (혈액 30, 골수 37, 유산물 12)예에서 염색체 검사와 유식세포 분리검사를 동시에 실시하여 각각의 결과를 비교한 결과 79.7% (63/79)의 일치율을 얻었다. 그러나 염색체의 손실이 없는 전좌와 역위의 경우는 물론 작은 조각의 염색체 부분이 늘어나거나 줄어든 경우에 있어서는 유식세포분리방법에 의해서 추적되지 못하였지만, 염색체 검사의 결과를 얻는데 실패한 경우에는 유식세포분리방법이 DNA량의 변화에 대한 정보를 얻을 수 있다는 것을 확인할 수 있었다. 따라서 본 연구결과는 세포유전학적 검사에서 유식세포분리방법이 염색체 검사보다 신속하며 염색체검사가 불가능한 시료에서도 DNA양에 따른 aneuploidy의 추적이 가능하다는 것을 시사한다.

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Hemihypertrophy with hypomelanosis of Ito: A new syndrome combination

  • Goswami, Hit K.;Rangnekar, Aruna G.;Sharma, Sandeep;Varshney, Subodh;Lee, In-Hwan;Chang, Sung-Ik
    • Journal of Genetic Medicine
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    • v.2 no.1
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    • pp.1-5
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    • 1998
  • A female hemihypertrophy patient with hypomelanosis of Ito is presented as a rare case combining classical features of both the syndrome. Chromosomal profile has been based on longitudinal study of repeated lymphocyte cultures during 1984-1992. The propositus has exhibited chromosomal mosaicism both hypoploid ($42{\pm}1$) and hyperploid ($48{\pm}2$ chromosome) counts, but the major stem line presented 46XX chromosomes. Ring chromosome with simple and complex translocations with marker dots appear to be the major cytogenetic assemblage of this child to posses unequal left and right halves of the body. Each and every organ from toe to the head has grown up unequally and lately the patient had been exhibiting different dark and light shapes of melanin on the skin. We believe that the patient had inherited, through her male parent, "a few" mutated loci on some chromosomes so as to generate different cell lines within the developing child. All sibs and the mother showed normal karyotype with no apparent aberration.

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Evaluation of Micronucleus Frequency in Cytokinesis-blocked Bovine Lymphocytes from Regions around Wolsong Nuclear Power Plant (세포질 분열 차단 림프구를 이용한 월성원자력발전소 주변 소의 미소핵 발생 평가)

  • Kim, Se-ra;Kim, Tae-hwan;Kim, Sung-ho
    • Korean Journal of Veterinary Research
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    • v.43 no.3
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    • pp.333-338
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    • 2003
  • Cytogenetic and hematological analysis was performed in bovine peripheral blood from the regions around Wolsong nuclear power plant and control area. The frequency of micronuclei (MN) in peripheral blood lymphocytes from cattle was used as a biomarker of radiobiological effects resulting from exposure to environmental radiation. An estimated dare of radiation was calculated by a best fitting linear-quadratic model based on the radiation-induced MN formation from the bovine lymphocytes exposed in vitro to radiation over the range from 0 Gy to 4 Gy. MN rates in lymphocytes of cattle from Wolsong nuclear power plant and control area were 9.87/1,000 and 9.60/1,000, respectively. There were no significant differences in MN frequencies and hematological values in cattle between Wolsong and control area. The study indicates that the MN assay is a rapid, sensitive and accurate method that can be used to monitor a large population exposed to radiation.

Cytogenetic Analysis Using Mitosis, Meiosis Chromosomes and bicolor Fluorescence in situ Hybridization of Bupleurum latissimum Nakai (체세포분열과 감수분열 및 bicolor FISH를 이용한 섬시호의 세포유전학적 분석)

  • Kim, Soo-Young;Bang, Jae-Wook;Lee, Joong-Ku
    • Korean Journal of Medicinal Crop Science
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    • v.14 no.6
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    • pp.354-359
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    • 2006
  • Chromosome analysis using mitosis, meiosis and bicolor FISH were carried out in Bupleurum latissimum Nakai, which is one of the endemic plants in Ulleung island of korea. The somatic methaphase chromosomes number of this plant was 2n = 2x = 16 and the chromosome complements consisted of six pairs of metacentrics and two pairs of submetacentrics. The size of chromosomes ranged 2.40${\sim}$4.20 ${\mu}$m and NOR (nucleolus organizer region) chromosome did not observed using conventional staining. In meiosis chromosomes, metaphase-I and anaphase-I were observed. Metaphase-I anaphase-I showed 8 bivalents and chromosomes migration to make two daughter cells. Using bicolor FISH, one pair of 5S and 45S rDNA signals were detected on the centromeric region of chromosome 3 and the end of short of chromosome 2,respectively. We also observed the NOR using 45S rDNA probe.

Influence of Dietary Factors of Smokers on Smoking-Induced DNA Damage as Reflected by Sister Chromatid Exchanges(SCE) (식이성요인이 SCE 빈도수로 본 흡연자의 DNA 손상에 미치는 영향)

  • 강명희
    • Journal of Nutrition and Health
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    • v.27 no.7
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    • pp.740-751
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    • 1994
  • Sister chromatid exchanges(SCE) in peripheral lymphocytes is recently used as a biomarker for increased cytogenetic damage in smokers. The purpose of the investigation was to determine if there were any relationships between dietary factors and their DNA damage as measured by SCE test in a group of 62 male cigarette smokers and 36 non-smokers. As expected, smokers as compared with non-smokers had high SCE levels (10.59$\pm$0.21 versus 9.23$\pm$0.17 SCE/lymphocytes ; p<0.05). No significant relationships were observed between SCEs and age in smokers and non-smokers. In smokers, SCEs were negatively correlated with egg frequency score(r=-0.336) and total food frequency scores(r=-0.283). In non-smokers, SCEs were positively correlated with white vegetable frequency score(r=0.333) and instant food frequency score(r=0.382). There was a positive association between SCEs and the history of coffee intake of smokers(r=0.318). SCE frequency was not influenced by any other dietary factors considered ; dietary diversity and quality scores, alcohol consumption, use of processed foods and intake of burned food. No significant relationships were found between SCEs and serum cholesterol or other hematological parameters of the subjects. These results indicate that increased egg frequency score, total food frequency score which reflects dietary quality, and decreased coffee intake may reduce cancer risk by preventing smoking-induced DNA damage as reflected by sister chromatid exchanges in human lymphocytes.

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A case of anemia caused by combined vitamin B12 and iron deficiency manifesting as short stature and delayed puberty

  • Song, Seung-Min;Bae, Keun-Wook;Yoon, Hoi-Soo;Im, Ho-Joon;Seo, Jong-Jin
    • Clinical and Experimental Pediatrics
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    • v.53 no.5
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    • pp.661-665
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    • 2010
  • Anemia caused by vitamin B12 deficiency resulting from inadequate dietary intake is rare in children in the modern era because of improvements in nutritional status. However, such anemia can be caused by decreased ingestion or impaired absorption and/or utilization of vitamin B12. We report the case of an 18-year-old man with short stature, prepubertal sexual maturation, exertional dyspnea, and severe anemia with a hemoglobin level of 3.3 g/dL. He had a history of small bowel resection from 50 cm below the Treitz ligament to 5 cm above the ileocecal valve necessitated by midgut volvulus in the neonatal period. Laboratory tests showed deficiencies of both vitamin B12 and iron. A bone marrow examination revealed dyserythropoiesis and low levels of hemosiderin particles, and a cytogenetic study disclosed a normal karyotype. After treatment with parenteral vitamin B12 and elemental iron, both anemia and growth showed gradual improvement. This is a rare case that presented with short stature and delayed puberty caused by nutritional deficiency anemia in Korea.

The Associations between Plasma Concentrations of Total Radical-Trapping Antioxidant Potential(TRAP), Antioxidant Vitamins and DNA Damage in Human Lymphocytes (혈장 총 율기 포집 능력(TRAP) 수준 및 항산화 비타민 영양상태와 인체 임파구 DNA 손상정도와의 상호관련성 연구)

  • 강명희
    • Journal of Nutrition and Health
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    • v.34 no.4
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    • pp.401-408
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    • 2001
  • The spontaneous frequency of genetic damage and the possible relationship of this damage to total radical-trapping antioxidant potential(TRAP) and antioxidant vitamins, including plasma levels of $\alpha$-carotene, $\beta$-carotene, cryptoxanthin, retinol, $\alpha$-tocopherol and ${\gamma}$-tocopherol in humans were investigated in 57 subjects using two indices of genetic damage, SCE & HFC frequency. The mean of SCE and HFC frequencies were weakly correlated with plasma TRAP(r=-0.305, p<0.1 for SCEs: r=-0.297, p<0.1 for HFCs, respectively), but those were strongly negatively correlated with plasma $\beta$-carotence(r=-0.385, p<0.01 for SCEs : r=-0.392, p<0.01 for HFCs) and cryptoxanthin(r=-0.312, p<0.05 for SCEs : r=0.335, p<0.05 for HFCs, respectively) levels in the subjects. However, those DNA damage markers including SCE and HFC did not correlate with either plasma $\alpha$-carotene, $\alpha$-tocopherol or retinol concentrations. The mean of SCE and HFC frequencies were positively correlated with plasma ${\gamma}$-tocopherol level(r=0.421, p<0.01 for SCEs : r=0.399, p<0.01 for HFCs, respectively). These findings indicate that increased cytogenetic DNA changes, as determined by SCE and HFC frequencies are possibly associated with generation of free radicals in lymphocytes and decreased plasma antioxidant vitamin($\beta$-carotene and cryptoxanthin) status in the subjects. (Korean J Nutrition 34(4) : 401~08, 2001)

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