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Rapid prenatal diagnosis of chromosome aneuploidies in 943 uncultured amniotic fluid samples by fluorescence in situ hybridization (FISH)

  • Han, Sung-Hee;Kang, Jeom-Soon;An, Jeong-Wook;Lee, An-Na;Yang, Young-Ho;Lee, Kyu-Pum;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.47-54
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    • 2008
  • Purpose : Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in many clinical cytogenetics laboratories. Here, we retrospectively analyzed the results of interphase FISH in 943 amniotic fluid samples and assessed the efficiency of FISH for rapid detection of aneuploidies. Methods : Interphase FISH for chromosome 13, 18, and 21 was performed in 943 consecutive amniotic fluid samples for rapid diagnosis of aneuploidies referred from 2004 to 2006. Karyotypes from standard cytogenetic analysis were compared to the FISH results. Results : A total of 45 chromosomal rearrangements (4.8%) were found after conventional cytogenetic analysis of the 943 amniotic fluid. After exclusion of known familiar chromosomal rearrangements and inversions (2.1%, 20/943), 2.7% (25/943) were found to have chromosomal abnormalities. Of this group, 0.7% (6/943) were chromosomal abnormalities not detectable by FISH and 2.0% (19/943) were numerical abnormalities detectable by FISH. All 14 cases of Down syndrome (Classic type, 13 cases; Robertsonian type, 1 case) and 5 cases of trisomy 18 were diagnosed and detected by FISH and there were no false-positive or -negative results (specificity and sensitivity=100%). Conclusion : The present study demonstrates that FISH can provide a rapid and sensitive clinical method for prenatal identification of chromosome aneuploidies. However, careful genetic counseling is essential to explain the limitations of FISH, including the inability to detect all chromosomal abnormalities and the possibilities of uninformative or false-negative results in some cases.

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Definition of Tumor Volume Based on 18F-Fludeoxyglucose Positron Emission Tomography in Radiation Therapy for Liver Metastases: An Relational Analysis Study between Image Parameters and Image Segmentation Methods (간 전이 암 환자의 18F-FDG PET 기반 종양 영역 정의: 영상 인자와 자동 영상 분할 기법 간의 관계분석)

  • Kim, Heejin;Park, Seungwoo;Jung, Haijo;Kim, Mi-Sook;Yoo, Hyung Jun;Ji, Young Hoon;Yi, Chul-Young;Kim, Kum Bae
    • Progress in Medical Physics
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    • v.24 no.2
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    • pp.99-107
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    • 2013
  • The surgical resection was occurred mainly in liver metastasis before the development of radiation therapy techniques. Recently, Radiation therapy is increased gradually due to the development of radiation dose delivery techniques. 18F-FDG PET image showed better sensitivity and specificity in liver metastasis detection. This image modality is important in the radiation treatment with planning CT for tumor delineation. In this study, we applied automatic image segmentation methods on PET image of liver metastasis and examined the impact of image factors on these methods. We selected the patients who were received the radiation therapy and 18F-FDG PET/CT in Korea Cancer Center Hospital from 2009 to 2012. Then, three kinds of image segmentation methods had been applied; The relative threshold method, the Gradient method and the region growing method. Based on these results, we performed statistical analysis in two directions. 1. comparison of GTV and image segmentation results. 2. performance of regression analysis for relation between image factor affecting image segmentation techniques. The mean volume of GTV was $60.9{\pm}65.9$ cc and the $GTV_{40%}$ was $22.43{\pm}35.27$ cc, and the $GTV_{50%}$ was $10.11{\pm}17.92$ cc, the $GTV_{RG}$ was $32.89{\pm}36.8$4 cc, the $GTV_{GD}$ was $30.34{\pm}35.77$ cc, respectively. The most similar segmentation method with the GTV result was the region growing method. For the quantitative analysis of the image factors which influenced on the region growing method, we used the standardized coefficient ${\beta}$, factors affecting the region growing method show GTV, $TumorSUV_{MAX/MIN}$, $SUV_{max}$, TBR in order. The result of the region growing (automatic segmentation) method showed the most similar result with the CT based GTV and the region growing method was affected by image factors. If we define the tumor volume by the auto image segmentation method which reflect the PET image parameters, more accurate and consistent tumor contouring can be done. And we can irradiate the optimized radiation dose to the cancer, ultimately.

Usefulness of Low Risk Criteria for Serious Bacterial Infection Among Febrile Infants Younger than Three Months of Age (생후 3개월 이하의 발열이 있는 환아에서 세균성 감염의 예측을 위한 저위험 예측기준의 유용성)

  • Kim, So Hyun;Jung, Ji Ah;Kim, Hae-Soon;Yoo, Eun Sun;Sohn, Sejung;Seo, Jeong Wan;Lee, Seung Joo
    • Clinical and Experimental Pediatrics
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    • v.45 no.8
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    • pp.967-972
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    • 2002
  • Purpose : A retrospective study was undertaken to evaluate the usefulness of low risk criteria for identifying febrile infants younger than three months unlikely to have serious bacterial infection. Methods : We conducted a retrospective study of 527 infants younger than three month with a axillary temperature ${\geq}37.4^{\circ}C$. If they met the following all four criteria, appear well, WBC $5,000-20,000/mm^3$, urine stick WBC(-) and nitrite(-), CSF WBC < $10/mm^3$, they were considered at low risk for serious bacterial infection(SBI). SBI was defined as a positive culture of urine, blood, or cerebrospinal fluid. The sensitivity, specificity, negative predictive value and positive predictive value of the low risk criteria were calculated. Results : Of 527 febrile infants, 110(21.0%) had serious bacterial infections. The 2.7% who met the low risk criteria had SBI and negative predictive value was 97.3%. SBI was diagnosed in 103 infants(38.6%) who didn't meet the low risk criteria including urinary tract infection(78.6%), most commonly, bacteremia(16.5%), bacterial meningitis(8.7%), Salmonella gastroenteritis(1%), osteomyelitis( 1%), septic arthritis of hip joint(1%). There were no differences in the sensitivity and negative predictive value according to the monthly-age-group. Conclusion : This low risk criteria to identify infants unlikely to have SBI early is available, however low risk infants must be carefully observed.

Usefulness of a Alvarado Scoring System for the Diagnosis of Acute Appendicitis in Children (소아 충수돌기염 진단에서 Alvarado Scoring System의 유용성)

  • Yang, Eun Seok;Yoon, Sung Kwan;Kim, Eun Young;Rho, Young Il;Park, Sang Kee;Park, Yeong Bong;Mun, Gyeong-Rae
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.7 no.1
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    • pp.1-7
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    • 2004
  • Purpose: Alvarado scoring system was evaluated regarding its usefulness for the early diagnosis of acute appendicitis in adult and in reduction of the incidence of negative appendicectomies. To evaluate the accuracy of diagnosing appendicitis using the Alvarado score in children. Methods: Prospectively, we surveyed 122 patients (male 67, female 55) suffering from abdominal pain, who had visited to the emergency department of Chosun University Hospital from June 2002 to May 2003. The Alvarado score has been computed from the white blood cell count, neutrophil count, body temperature, resistance in the right lower quadrant, length of symptoms, nausea and vomiting. Each patient was evaluated by a pediatric resident and then by a general surgeon independently. Results: Out of 170 total children who visited to the emergency department due to abdominal pain, 122 patients were associated with appendicitis. A total of 122 patients (67 male and 55 female) were visited to the emergency room with suspected appendicitis. From 105 operated patients, 92 (87.6%) were diagnosed acute appendicitis and erronous diagnostic rate was 12.4%, pathologically. Mean alvarado score of appendicitis group was $5.40{\pm}1.24$ whereas those of non-appendicitis group was $3.73{\pm}1.82$ (p<0.05). From 6 Alvarado score high sensitivity (86.4%) and high specificity (80.0%) were observed. Sensitivity of ultrasonography or computed tomography was 92.5%. Conclusion: We found that Alvarado score system is a noninvasive, safe diagnostic method, which is simple, reliable and repeatable. Alvarado score is useful system for a first, rapid and economic evaluation for the appendicitis in children.

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Clinical Availability of Serum Procalcitonin in Children with Bacterical Infection (소아 세균감염증에서 혈청 procalcitonin의 임상적 유용성)

  • Noe, Eun-Jung;Lee, So-Yeon;Lee, Kyu-Man;Kim, Kwang-Nam
    • Pediatric Infection and Vaccine
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    • v.17 no.2
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    • pp.108-113
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    • 2010
  • Purpose : The aim of this study was to identify clinical availability of serum procalcitonin (PCT) compared with C-reactive protein (CRP) in prediction of bacterial infection in children. Methods : A retrospective study was conducted with children who had been admitted to the Department of Pediatrics with bacterial and viral infection between April 2008 and March 2009 and children who were admitted with Juvenile rheumatoid arthritis (JRA) between August 2007 and July 2009. Serum PCT levels were measured using an enzyme-linked fluorescent assay. Results : The study population included 10 patients with bacterial infection (group I), 69 with viral infection (group II), and 35 with JRA (group III). Mean PCT levels were significantly higher in group I than in group II or group III (P<0.05). Mean CRP levels were significantly higher in group I than in group II (P<0.05); however, mean CRP levels were not significantly higher in group I than in group III (P>0.05). Using a cutoff of 0.5 ng/mL for PCT and 8 mg/L for CRP, sensitivity and specificity in distinguishing between group I and the other groups were 60.0% and 92.3% for PCT and 60.0% and 40.1% for CRP, respectively. Positive and negative predictive values were 42.9% and 96.0% for PCT and 10.0% and 92.6% for CRP, respectively. Conclusion : Measurement of PCT concentrations appears to be more useful than CRP for distinguishing between bacterial infection and non-bacterial diseases in children.

Analysis of Telomere Length and Telomerase Activity of Tissues in Korean Native Chicken (한국 재래닭의 주령별 각 조직의 텔로미어 함량과 텔로머레이스 활성도 분석)

  • Jung G.S.;Cho E.J.;Choi D.S.;Lee M.J.;Park C.;Jeon I.S.;Sohn S.H.
    • Korean Journal of Poultry Science
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    • v.33 no.2
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    • pp.97-103
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    • 2006
  • Telomeres are essential for chromosome stability and are related with cell senescence, apoptosis and cancer. Even though telomere length and telomerase activity have been studied extensively, very little is known to analyze the telomere dynamics in chicken cells. This study was carried out to analyze the telomere distribution and telomerase activity of Korean Native Chicken cells along with aging. The cells were collected from brain, heart, liver, kidney and germinal tissues during physiological stages. Telomere distribution was analyzed by Quantitative-Fluorescence in situ Hybridization (Q-FISH) techniques using the chicken telomeric DNA probe. Telomerase activity was performed by Telomeric Repeat Amplification Protocol (TRAP) assay. In results, the telomeres of chicken were found at the ends of all chromosomes with the interstitial telomeres on chromosomes 1, 2 and 3. The amount of telomeres on chicken cells was decreased along with aging in most tissues. Furthermore, the telomere quantity was significantly different among tissues. The relative amount of telomeres in proliferous cells such as testis cells had much more than those of liver, brain, heart, blood and kidney cells. The telomerase activity was down-regulated in cells of brain, heart and liver tissues. Whereas gonadal cells showed a constitutive activity of telomerase during all stage of life. In conclusions, the telomere quantity and telomerase activity in chicken are closely relate to cell proliferation and tissue specificity during developmental stages and aging. There is also closely correlated between the amounts of telomeric DNA and telomerase activity in chicken tissues.

The Development of Theoretical Model for Relaxation Mechanism of Sup erparamagnetic Nano Particles (초상자성 나노 입자의 자기이완 특성에 관한 이론적 연구)

  • 장용민;황문정
    • Investigative Magnetic Resonance Imaging
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    • v.7 no.1
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    • pp.39-46
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    • 2003
  • Purpose : To develop a theoretical model for magnetic relaxation behavior of the superparamagnetic nano-particle agent, which demonstrates multi-functionality such as liver- and lymp node-specificity. Based on the developed model, the computer simulation was performed to clarify the relationship between relaxation time and the applied magnetic field strength. Materials and Methods : The ultrasmall superparamagnetic iron oxide (USPIO) was encapsulated with biocompatiable polymer, to develop a relaxation model based on outsphere mechanism, which was resulting from diffusion and/or electron spin fluctuation. In addition, Brillouin function was introduced to describe the full magnetization by considering the fact that the low-field approximation, which was adapted in paramagnetic case, is no longer valid. The developed model describes therefore the T1 and T2 relaxation behavior of superparamagnetic iron oxide both in low-field and in high-field. Based on our model, the computer simulation was performed to test the relaxation behavior of superparamagnetic contrast agent over various magnetic fields using MathCad (MathCad, U.S.A.), a symbolic computation software. Results : For T1 and T2 magnetic relaxation characteristics of ultrasmall superparamagnetic iron oxide, the theoretical model showed that at low field (<1.0 Mhz), $\tau_{S1}(\tau_{S2}$, in case of T2), which is a correlation time in spectral density function, plays a major role. This suggests that realignment of nano-magnetic particles is most important at low magnetic field. On the other hand, at high field, $\tau$, which is another correlation time in spectral density function, plays a major role. Since $\tau$ is closely related to particle size, this suggests that the difference in R1 and R2 over particle sizes, at high field, is resulting not from the realignment of particles but from the particle size itself. Within normal body temperature region, the temperature dependence of T1 and T2 relaxation time showed that there is no change in T1 and T2 relaxation times at high field. Especially, T1 showed less temperature dependence compared to T2. Conclusion : We developed a theoretical model of r magnetic relaxation behavior of ultrasmall superparamagnetic iron oxide (USPIO), which was reported to show clinical multi-functionality by utilizing physical properties of nano-magnetic particle. In addition, based on the developed model, the computer simulation was performed to investigate the relationship between relaxation time of USPIO and the applied magnetic field strength.

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Radioimmunoscintigraphy Using $^{99m}Tc-anti-CEA\;F(ab')_2$ Fragment in Rectal Cancer and a Pilot Study for Radioimmunoguided Surgery (직장암에서 $^{99m}Tc$-항CEA 항체 $F(ab')_2$ 분절을 이용한 수술 전 방사면역신티그라피 및 방사면역지침수술에 관한 기초 연구)

  • Ryu, Jin-Sook;Kim, Jin-Choen;Kim, Chang-Nam;Gong, Gyung-Yub;Lee, Hee-Kyung
    • The Korean Journal of Nuclear Medicine
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    • v.34 no.3
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    • pp.243-251
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    • 2000
  • Purpose: This prospective study was performed to evaluate the usefulness of preoperative radioimmunoscintigraphy and intraoperative scintimetric examination (radioimmunoguided surgery: RIGS) using $^{99m}Tc-anti-CEA\;F(ab')_2$ fragment. Materials and Methods: Nineteen patients with rectal cancer underwent preoperative whole body planar scintigraphy at 4 hours after injection of $^{99m}Tc-anti-CEA\;F(ab')_2$ fragment and SPECT imaging at 18 hours. Surgical operation was performed at 24 hours after injection. During laparotomy, radioactivities from intraabdominal viscera were measured by gamma probe. The radioactivities from excised tumor and lymph nodes were also measured and compared with pathology. Results: All nineteen patients were confirmed to have adenocarcinomas in the rectum. Twenty-seven of 97 excised lymph node groups had metastasis and 2 patients had liver metastasis in pathology Preoperative radioimmunoscintigraphy detected primary tumors in 11 patients (sensitivity 55%) and it could not detect any lymph nodes or liver metastasis. All patients showed high radioactivity in the kidneys, liver, spleen, and major vessels in intraoperative measurement by gamma probe, and tumor activity was not discriminated from background activity However, radioactivity from excised tumor was higher than normal rectum (T/B ratio; $3.47{\pm}2.25$). When excised lymph node activity/background activity ratio >1.5 was considered as positive criteria of metastasis, sensitivity, specificity, positive and negative predictive values were 78.6%, 73.9%, 55.0% and 89.5%, respectively. Conclusion: Radioimmunoscintigraphy using $^{99m}Tc-anti-CEA\;F(ab')_2$ has no additional value for preoperative staging and use of early RIGS using $^{99m}Tc-anti-CEA\;F(ab')_2$ is inappropriate. For early RIGS using $^{99m}Tc$ labeled antibodies in rectal cancer patients, further development of more specific antibodies and methods to reduce background activity are needed.

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Physiological Ecology of parasitic Dinoflagellate Amoebophrya and Harmful Algal Blooms (기생성 와편모류 Amoebophrya의 생리 생태적 특성과 적조)

  • 박명길
    • The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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    • v.7 no.3
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    • pp.181-194
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    • 2002
  • Parasitism is a one-sided relationship between two organisms in which one benefits at the expense of the other. Parasitic dinoflagellates, particularly species of Amoebophrya, have long been thought to be a potential biological agent for controlling harmful algal bloom(HAB). Amoebophrya infections have been reported for over 40 species representing more than 24 dinoflagellate genera including a few toxic species. Parasitic dinoflagellates Amoebophrya spp. have a relatively simple life cycle consisting of an infective dispersal stage (dinospore), an intracellular growth stage(trophont), and an extracellular reproductive stage(vermiform). Biology of dinospores such as infectivity, survival, and ability to successfully infect host cells differs among dinoflagellate host-parasite systems. There are growing reports that Amoebophrya spp.(previously, collectively known as Amoebophrya ceratii) exhibit the strong host specificity and would be a species complex composed of several host-specific taxa, based on the marked differences in host-parasite biology, cross infection, and molecular genetic data. Dinoflagellates become reproductively incompetent and are eventually killed by the parasite once infected. During the infection cycle of the parasite, the infected host exhibits ecophysiologically different patterns from those of uninfected host in various ways. Photosynthetic performance in autotrophic dinoflagellates can be significantly altered following infection by parasitic dinoflagellate Amoebophrya, with the magnitude of the effects over the infection cycle of the parasite depending on the site of infection. Parasitism by the parasitic dinoflagellate Amoebophrya could have significant impacts on host behavior such as diel vertical migration. Parasitic dinoflagellates may not only stimulate rapid cycling of dissolved organic materials and/or trace metals but also would repackage the relatively large sized host biomass into a number of smaller dinospores, thereby leading to better retention of host's material and energy within the microbial loop. To better understand the roles of parasites in plankton ecology and harmful algal dynamics, further research on a variety of dinoflagellate host-parasite systems is needed.

Vitamin C Quantification of Korean Momordica charantia by Cultivar, Harvest Time, and Maturity (국내산 여주의 지역별, 수확시기별, 숙기별 Vitamin C 함량)

  • Jeong, Yun Sook;Lee, Sang Hoon;Song, Jin;Hwang, Kyung-A;Noh, Geon Min;Hwang, In Guk
    • The Korean Journal of Food And Nutrition
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    • v.29 no.4
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    • pp.474-479
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    • 2016
  • This study aimed to investigate the concentration of vitamin C in Momordica charantia (MC) by cultivar, harvest time, and maturity. The methods for determining vitamin C levels were validated by measuring their linearity, specificity, limit of detection (LOD), limit of quantification (LOQ), precision, and accuracy using HPLC. Results showed high linearity in the calibration curve, with a coefficient of correlation ($R^2$) of 0.9994. The LOD and LOQ values for vitamin C were 0.05 and $0.16{\mu}g/mL$, respectively. The relative standard deviations (RSDs) for intra- and inter-day precision of vitamin C measurements were 2.34 and 1.34%, respectively. Depending on cultivar, the concentration of vitamin C in MC varied from 20.75~107.31 mg/100 g, fresh weight, with an average level $68.85{\pm}25.57mg/100g$, FW. When MC was analyzed by harvest time, the 20150612 MC showed the highest amount of vitamin C ($113.20{\pm}1.89mg/100g$, FW). On the other hand, the highest vitamin C content by maturity was $48.59{\pm}0.87mg/100g$, FW (15 day old MC). This information on the comparative vitamin C levels of MC might be useful to food scientists and should be explored for functional food development.