• Title/Summary/Keyword: Fluorescent in situ hybridization (FISH)

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A Case of a 46,XX Male with SRY Gene (SRY 유전자를 가진 46,XX 남성 1례)

  • Min, Jeong-Yong;Lee, Dong-Suk;Cho, Soo-Kyung;Park, So-Hyun;Lee, Soo-Min;Baek, Min-Kyung;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.145-149
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    • 2008
  • 46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.

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Clinicopathology Figures and Long-term Effects of Tamoxifen Plus Radiation on Survival of Women with Invasive Ductal Carcinoma and Triple Negative Breast Cancer

  • Payandeh, Mehrdad;Sadeghi, Masoud;Sadeghi, Edris;Aeinfar, Mehrnoush
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.12
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    • pp.4863-4867
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    • 2015
  • Background: Triple negative breast cancer (TNBC), characterized as estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 Her2 negative and accounting for 10-17% of all breast carcinomas, is only partially responsive to chemotherapy and suffers from a lack of clinically established targeted therapies. The aim of the current study was to evaluate the patterns of treatment and clinicopathology figures in Kurdish patients with triple-negative breast cancer, and to compare these to other reports. Materials and Methods: Between 2001 and 2014, 950 breast cancer patients were referred to our clinic. There were 74 female patients with TNBC, including 70 patients was invasive ductal carcinoma entered into our study. ER and PR positivity was defined as positive immunohistochemical staining in more than 10% of tumor cells. Immunohistochemistry assay with anti-HER2 antibodies was used to identify HER negative (0 and 1+) or positive (2+ and 3+). HER2 gene amplification was determined by fluorescent in situ hybridization (FISH). Overall survival (OS) was plotted with GraphPad Prism 5 Software using Kaplan-Meier and log-rank tests for comparison of results. Results: The mean age in the first diagnosis for 70 patients with triple TNBC and invasive ductal carcinoma was 49.6 years that range of age was 27-82 years. All of the patients were female. Of 70 patients, 23 patients had metastasis. Thirty-two patients (45.7%) were treated with tamoxifen and 39 (55.7%) with radiotherapy. Three-year, 5-year and 10-year OS rates for all patients were 82%, 72% and 64%, respectively. Conclusions: The OS in our West Iran TNBC patients is less than reported elsewhere. However, treatment with combination of tamoxifen plus radiation increases the OS and reduces the mortality rate.

Evaluation of Field Application for the Developed Retrofitting Process and Analysis of Bacterial Community Structure in Pilot Plant (하수처리장 Retrofit 공정의 현장적용성 평가 및 세균 군집 분포 연구)

  • Kim, Mee-Kyung;Hong, Jun-Hyeok;Kim, Youn-Kwon;Ahn, Tae-Seok;Shin, Eung-Bai
    • Journal of Korean Society of Environmental Engineers
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    • v.28 no.3
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    • pp.240-248
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    • 2006
  • In this study, a retrofitting BNR process that was modified for the economical applicability was proposed and evaluated in the pilot plant($50m^3/d$). At the same time the bacterial community structure was investigated in the pilot plant by using FISH(fluorescent in situ hybridization) method. Economically 16% of the initial construction cost for the proposed process(introduction of a biological nutrient removal process of $60,000m^3/d$ scale basis) was reduced due to the absence of a bioreactor. Water treatment efficiencies and maintenance facilities of the modified process were satisfied with the strengthened discharge permits in Korea throughout a long term pilot plant operating including a winter season. Bacterial populations in the pilot plant and in the control plant(A2/O process, B SIP(Sewage Treatment Plant)) were remained uniformly during the test period, but bacterial structure in the bioreactor was changed drastically. Proportions of ${\beta}$-proteobacteria group including soil bacteria which play a important role in wastewater treatment increased $25{\sim}607%$ in population.

Changes of the Bacterial Community Structure Depending on Carbon Source in Biological Phosphate Removing Process (생물학적 인 제거 공정에서 탄소원에 따른 미생물군집구조의 변화)

  • Yeo, Sang-Min;Lee, Young-Ok
    • Journal of Korean Society of Environmental Engineers
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    • v.28 no.2
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    • pp.165-172
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    • 2006
  • In order to analyze the bacterial community structure including P-removal related organisms, PAOs(polyphosphate accumulating organisms) and GAOs(glycogen-accumulating non-poly-P organisms) occurred in biological phosphate removing process, 2 reactors(SBR; sequencing batch reactor) were operated on different carbon sources(sodium acetate, glucose). For the analysis of bacterial community structure, molecular methods(FISH: fluorescent in situ hybridization and DGGE; denaturing gel gradient electrophoresis) were employed. After 100 days reaction, $PO_4-P$ in effluent dropped to 3.92 mg/L in SBR #1(60.8% removal) fed by sodium acetate, and at the same time FISH results showed that ${\beta}$-subclass proteobacteria(39.67%) and PAOs(45.10%) were dominantly present whereas those value in SBR #2 fed by glucose was 8.30 mg/L(17% removal), and ${\gamma}$-subclass proteobacteria were considerably observed(23.89%) and PAOs was 21.42%. Also the result of DGGE indicated that ${\beta}$-subclass proteobacteria was dominantly observed in SBR #1. However as the temperature increased, the proportion of ${\beta}$-subclass proteobacteria and PAOs decreased, but phosphorus removing inhibitors(GAOs) increased. It suggests that the environmental factor like as temperature and types of carbon source had influence on the prevalence of phosphorus removing organism(PAOs) and phosphorus removing inhibitors(GAOs) in biological phosphate removing process.

The Change of Attached Bacterial Community on Aggregates in Lake Paldang (팔당호에서 Aggregates에 부착한 세균군집구조의 변화)

  • 홍선희;오덕화;전선옥;안태석
    • Korean Journal of Microbiology
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    • v.36 no.4
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    • pp.292-298
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    • 2000
  • For scrutinizing the changes of aggregated bacteria in Lake Paldang, the FISH method was applied by using the rhodamine labeled probes, and total bacteria, chloropyll a concentrations and nutrients concentrations were measured. The aggregates were collected with sediment traps. The T-N, T-P, chlorophyll a concentrations of aggregates were higher 5-15 times, 81-140 and 49-66 times than water samples, respectively. Also, the bacterial numbers of aggregates were 200 times higher than those of water smaples. The ratios of each groups of water sample were 2.1-7.4% for $\alpha$-group, 4.5-8.3% for $\beta$-group, 2.1-7.4% for $\gamma$-group, 2.1-6.1% for Cytophaga-Flavobacterium group and 0.1-2.5% for 'other'group, respectively. While, in aggregates, the ratios of $\alpha$-, $\beta$-, $\gamma$- and Cytophaga-Flavobacterium groups were very small and most abundant group was 'other' bacteria. With these results, the aggregated bacteria in Lake Paldang had a particular group composition of bacteria.

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Changes of Nitrifying Bacterial Populations in Anaerobic-Anoxic-Oxic Reactors (혐기-무산소-호기 반응조내 질화세균군의 변화)

  • Park, Jong-Woong;Lee, Young-Ok;Go, Jun-Heok;Ra, Won-Sik;Lim, Uk-Min;Park, Ji-Eun
    • Journal of Korean Society of Environmental Engineers
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    • v.27 no.2
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    • pp.138-144
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    • 2005
  • This study was carried out to investigate the changes of nitrifying bacterial populations including Nitrosomonas sp. and Nitrobacter sp. in $A^2/O$ pilot plant with the configuration of anaerobic-anoxic-oxic reactors. The suspended nitrifying bacterial populations in mixed liquor and those of attached populations on granular carrier surface made by molded waste tire were analyzed by Fluorescent in situ Hybridization(FISH) method. The nitrification rate of a pilot plant showed the value of $1.97{\sim}2.98\;mg\;N/g$ MLVSS hr. The ratios of suspended ammonia oxidizer including Nitrosomonas sp. (NSO) to total bacteria in each reactor were oxic < anoxic < anaerobic. On the contrary, the ratios of suspended nitrite oxidizer including Nitrobacter sp. (NIT) were anaerobic < anoxic < oxic. The thickness, dry density and mass of the attached biomass on granular carriers were $180{\sim}188\;{\mu}m$, $38.5{\sim}43.9\;mg/cm^3$, $29.4{\sim}32.5\;mg/g$, respectively. Also, the ratios of attached nitrifier to total bacteria on granular carriers were similar regardless of ammonia/nitrite-oxidizer (NSO; 3.2%, NIT; 2.8%) and very low compared to those(NSO; $22.8{\sim}28.4%$, NIT; $17{\sim}26%$) of suspended nitrifier.

Prenatal diagnosis of a de novo ring chromosome 11

  • Park, Ju-Yeon;Lee, Moon-Hee;Lee, Bom-Yi;Lee, Yeon-Woo;Ryu, Hyun-Mee;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.80-83
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    • 2007
  • A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

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The Effect of Human Adipose Tissue Derived Mesenchymal Stem Cells and Growth Hormone on the Recovery of Neurological Deficits due to Experimental Spinal Cord Injury in Rat (최근 척수손상 백서에서 인체지방조직유래 중간엽 줄기세포 이식 및 성장호르몬의 투여가 신경회복에 미치는 영향)

  • Lee, Keun Cheol;Moon, In Sun;Heo, Jung;Kwon, Yong Seok;Kim, Seok Kwun;Son, Hee Dong
    • Archives of Plastic Surgery
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    • v.35 no.1
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    • pp.13-19
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    • 2008
  • Purpose: Human adipose tissue-derived mesenchymal stem cells(hATSCs) can be differentiated into multiple mesenchymal lineages, including bone, cartilage, and muscle. And growth hormone play important roles in the normal growth and development of the CNS. In this study, we explored whether the transplanted hATSCs and growth hormones could improve functional recoveries from rats with contusive spinal cord injury. Methods: We divided 30 female rats, which were subjected to a weight driven implant spinal cord injury, into 3 groups with 10 rats each; Group A as a control group, group B with hATSCs transplantation on injured region, and group C with hATSCs transplantation and GH administration for 7 days. Then, we researched their neurologic functional recoveries before and 2, 4, and 8 weeks after transplantation using Basso-Beattie-Bresnahan (BBB) locomotor rating scale. And we checked Y-chromosome positive cells by FISH(Fluorescent in situ hybridization) to identify the survival of transplanted mesenchymal stem cells. Results: After 4 weeks of transplantation, the group B and group C showed significant improvement of neurologic function on BBB locomotor rating scale in comparison with the group A(Group A: $13.1{\pm}0.58$, Group B: $14.6{\pm}0.69$, Group C: $14.9{\pm}0.56$). Moreover, the group C displayed meaningful recovery of neurologic function after 8 weeks in comparison with group B (Group B: $15.7{\pm}0.63$, Group C: $16.5{\pm}1.14$). The group A, the control one, improved for 5 weeks after injury, and had no more recovery. On the other hand, Group B and C showed the improvement of neurologic function continuously for 9 weeks after injury. Conclusion: In this study, we found out that hATSCs transplantation have an effect on neurologic functional recovery of spinal cord injured rat and GH injection seems to bring the synergistic results on this good tendency.

Molecular and cytogenetic findings in 46,XX males

  • Choi, Soo-Kyung;Kim, Young-Mi;Seo, Ju-Tae;Kim, Jin-Woo;Park, So-Yeon;Moon, In-Gul;Ryu, Hyun-Mee;Kang, Inn-Soo;Lee, You-Sik
    • Journal of Genetic Medicine
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    • v.2 no.1
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    • pp.11-15
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    • 1998
  • This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic and molecular aspects to find out the origin of the sex reversal. Patients had markedly elevated serum follicle-stimulating hormone (FSH) and lutenizing hormone (LH) and decreased or normal range of serum testosterone. The testicular volumes were small (3-8ml). Testicular biopsy showed Leydig cell hyperplasia and atrophy of seminiferous tubules. We obtained the results of normal 46,XX, and the presence of Y chromosome mosaicism was ruled out through XY dual fluorescent in situ hybridization (FISH). By using polymerase chain reaction (PCR), we amplified short arm (SRY, PABY, ZFY and DYS14), centromere (DYZ3), and heterochromatin (DYZ1) region of the Y chromosome. PCR amplification of DNA from these patients showed the presence of the sex-determining region of the Y chromosome (SRY) but didn't show the centromere and heterochromatin region sequence. The SRY gene was detected in all the three patients. Amplification patterns of the other regions were different in these patients; one had four amplified loci (PABY+, SRY+, ZFY+, DYS14+), another had two loci (SRY+, ZFY+) and the other had two loci (PABY+, SRY+). We have found that each patient's translocation elements had different breakpoints at upstream and downstream of the SRY gene region. We conclude that the testicular development in 46,XX male patients were due to insertion or translocation of SRY gene into X chromosome or autosomes.

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Characteristics of Bacterial Community for Biological Activated Carbon(BAC) by Culturable and Unculturable Methods. (배양적 및 비배양적 방법에 의한 생물활성탄 부착세균 군집 특성)

  • Park, Hong-Ki;Jung, Eun-Young;Jung, Mi-Eun;Jung, Jong-Moon;Ji, Ki-Won;Yu, Pyung-Jong
    • Journal of Life Science
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    • v.17 no.9 s.89
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    • pp.1284-1289
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    • 2007
  • The Biological Activated Carbon (BAC) process in the water treatments represents a kind of biofiltration process which capabilities of bacteria to remove organic matters are maximized. It enables to eliminate organic matters and effectively reduce microbial regrowth potentials. As attached bacteria employ natural organic matter as a substrate, they are significantly dependent on indigenous microorganisms. In this study, characteristics of bacterial community by culturable and unculturable Methods have been conducted in a pilot plant using SAC in water treatment process at the downstream of the Nakdong River. Based on the results, HPC and bacterial- production for coal-based activated carbon material were $1.20{\sim}56.2{\times}l0^7$ cfu/g and $1.2{\sim}3.7\;mgC/m^{3}h$, respectively, in the SAC process. The highest level of attached bacteria biomass and organic carbon removal efficiency was found in the coal-based activated carbon. The genera Pseudomonas, Flavobacterium, Alcaligenes, Acilzetobacter, and Spingomonas were identified for each activated carbon material. Pseudomonas vesicularis was the dominant species in the coconut- and coal-based materials, where as Pseudomonas cepacia was the dominant species in the wood-based material. The Scanning Electron Microscope (SEM) observation of the activated carbon surface also found the widespread distribution of rod form and coccus. The community of attached bacteria was investigated by performing Fluorescent in situ hybridization (FISH) analysis. a group was dominant in coal, wood and coccunt-based materials, ${\alpha},\;{\beta}\;and\;{\gamma}$ group ranged from 27.0 ${\sim}$ 43.0%, 7.1 ${\sim}$ 22.0%, 11.3 ${\sim}$ 28.6%, respectively. These results suggest that a group bacterial community appears to be regulated removal efficiency of organic material in water treatment process.