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Noninvasive Prenatal Diagnosis using Cell-Free Fetal DNA in Maternal Plasma: Clinical Applications

  • Yang, Young-Ho;Han, Sung-Hee;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.1-16
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    • 2011
  • Owing to the risk of fetal loss associated with prenatal diagnostic procedures (amniocentesis, chorionic villus sampling), noninvasive prenatal diagnosis (NIPD) is ultimate goal of prenatal diagnosis. The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma in 1997 has opened up new probabilities for NIPD by Dr. Lo et al. The last decade has seen great development in NIPD. Fetal sex and fetal RhD status determination by cffDNA analysis is already in clinical use in certain countries. For routine use, this test is limited by the amount of cell-free maternal DNA in blood sample, the lack of universal fetal markers, and appropriate reference materials. To improve the accuracy of detection of fetal specific sequences in maternal plasma, internal positive controls to confirm to presence of fetal DNA should be analyzed. We have developed strategies for noninvasive determination of fetal gender, and fetal RhD genotyping using cffDNA in maternal plasma, using real-time quantitative polymerase chain reaction (RT-PCR) including RASSF1A epigenetic fetal DNA marker (gender-independent) as internal positive controls, which is to be first successful study of this kind in Korea. In our study, accurate detection of fetal gender through gestational age, and fetal RhD genotyping in RhD-negative pregnant women was achieved. In this assay, we show that the assay is sensitive, easy, fast, and reliable. These developments improve the reliability of the applications of circulating fetal DNA when used in clinical practice to manage sex-linked disorders (e.g., hemophilia, Duchenne muscular dystrophy), congenital adrenal hyperplasia (CAH), RhD incompatibility, and the other noninvasive pregnant diagnostic tests on the coming soon. The study was the first successful case in Korea using cffDNA in maternal plasma, which has created a new avenue for clinical applications of NIPD.

A Survey on the Understanding of Breast-feeding in Pregnant Woman (임신시 모유수유에 대한 인식조사)

  • Seo, Jeong Wan;Kim, Yong Joo;Lee, Kee Hyoung;Kim, Jae Young;Sim, Jay G;Kim, Hae Soon;Ko, Jae Sung;Bae, Sun Hwan;Park, Hye Sook;Park, Beom Soo
    • Clinical and Experimental Pediatrics
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    • v.45 no.5
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    • pp.575-587
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    • 2002
  • Objective : To investigate the understanding of breast-feeding in pregnant woman and the proper way of encouraging breast-feeding. Methods : Each questionnaire included items about demographic characteristics and the understanding of breast-feeding. The questionnaires were filled up by pregnant women visiting obstetric clinics in Seoul and its vicinities, Busan, Choongjoo and Chungjoo from July 2001 to August 2001. One thousand, two hundred ninety questionnaires were analysed by Chi square tests and multiple logistic regressions. Results : The majority of pregnant women(87.4%) planned breast-feeding. Forty three percent of them had plans to breast-feed for 4-6 months. There were no differences in the level of education, the family size and the source of information about breast-feeding in planning to breast-feed (P>0.05). The main reasons for not choosing to breast-feed were returns to work(41.3%), previous failures of breast-feeding(17.4%), concerns about insufficient amount of breast milk(10.9%), breast and nipple problems(10.3%) and maternal illness(9.4%). The average score on the test of the understanding about breast-feeding was 59.7/100. The average scores on the understanding about the methods and advantages of breast-feeding were 45.3/100 and 86.1/100, respectively. The maternal status of employment, previous history of breast-feeding, the time of decision to breastfeed, person advocating breast-feeding and the understanding on the advantages of breast-feeding were significant determinant factors in planning to breast-feed(P<0.05). Conclusion : Pediatricians should take steps to make an effort to increase the breast-feeding rate and to encourage breast-feeding by timely education. Beyond the medical field, political and social supports for breast-feeding are urgently needed.

Removal of Soluble Mn(II) using Multifunctional Sand Coated with both Fe- and Mn-oxides (철과 망간이 동시에 코팅된 다기능성 모래를 이용한 용존 Mn(II) 제거)

  • Lim, Jae-Woo;Chang, Yoon-Young;Yang, Jae-Kyu
    • Journal of Korean Society of Environmental Engineers
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    • v.32 no.2
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    • pp.193-200
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    • 2010
  • This study evaluated treatability of soluble Mn(II) using multifunctional sand media simultaneously coated with iron and manganese. In the preparation of IMCS(Iron and Manganese Coated Sand), 0.05 M Mn(II) solution and Fe(III) solution was mixed with sand at pH 7. The mineral type of IMCS was identified as the mixture of ${\gamma}-MnO_2$, goethite and magnetite($F_{e3}O_4$). The contents of Mn and Fe coated onto sand were 826 and 1676 mg/kg, respectively. The $pH_{pzc}$ of IMCS was measured as 6.40. The removal of soluble Mn(II) using IMCS and oxidants such as NaOCl and $KMnO_4$ was investigated with variation of the solution pH, reaction time and Mn(II) concentration in a batch test. The removal of Mn(II) on IMCS was 34% at pH 7.4 and the removals of Mn(II) on IMCS in the presence of NaOCl(13.6 mg/L) at pH 7 and $KMnO_4$(4.8 mg/L) at pH 7.6 were 96% and 89%, respectively. The removal of Mn(II) using IMCS and oxidants followed a typical cationic type, showing a gradual increase of removal as the solution pH increased. The removal of Mn(II) was rapid in the first 6 hrs and then a constant removal was observed. The maximum removed amount of Mn(II) on IMCS-alone and IMCS in the presence of oxidants such as NaOCl(13.6 mg/L) and $KMnO_4$(4.8mg/L) were 833.3, 1428.6 and 1666.7 mg/kg, respectively. Mn(II) removal onto the IMCS in the presence of oxidants was well described by second-order reaction and Langmuir isotherm expression.

The effect of resistance exercise on β-amyloid metabolism and cognitive function in a mouse model of Alzheimer's disease (저항성 운동이 알츠하이머 형질전환 생쥐 뇌의 베타 아밀로이드 대사와 인지기능에 미치는 영향)

  • Jang, Yong-Chul;Koo, Jung-Hoon
    • Journal of the Korean Applied Science and Technology
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    • v.37 no.3
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    • pp.418-428
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    • 2020
  • The aim of this study was to investigate the effect of resistance exercise(RE) on beta-amyloid(Aβ) metabolism, neuronal cell death, and cognitive function in the transgenic mice model of Alzheimer's disease(AD). Fourteen transgenic(tg) mice and fourteen non-transgenic(non-tg) mice were divided into four groups: (1)non-tg-control(NTC, n=7) (2)non-tg-RE(NTRE, n=7) (3)tg-control(TC, n=7), and (4)tg-RE(TRE, n=7). The groups with RE were performed to progressive RE on ladder equipment for 8 weeks. The groups with RE were performed to progressive RE on ladder equipment for 8 weeks. After then, the cognitive function was measured by using the water maze test, and Aβ metabolism-related proteins, neuronal cell death, and SIRT1/PGC-1α pathway were also measured. Here, we found escape latency and time were significantly increased in the TC compared to the NTC group, but it was significantly reduced in the TRE group, indicating RE may ameliorate cognitive dysfunction. Next, we found an increased in Aβ protein of TC compared to NTC, but it was significantly reduced in the TRE group following RE. In neuronal cell death, Bcl-2 was also significantly decreased and Bax was significantly increased in the TC compared to the NTC group, but RE can increase Bcl-2 and reduce Bax, which may elevate the ratio of Bcl-2/Bax. We further found a decrease in the level of ADAM10 and RARβ protein was significantly increased whereas increased in ROCK1 and BACE1 expression level was significantly reduced following RE in the TRE compared to the TC group. In addition, the level of SIRT1/PGC-1α proteins was decreased in the TC group compared to NTC group, but, these markers were significantly increased in the TRE group following RE. Therefore, our finding indicated that RE may ameliorate cognitive deficits by reducing Aβ protein and neuronal cell death via regulating SIRT1/PGC-1α, amyloidogenic pathway, and non-amyloidogenic pathway, which may play a role in an effective strategy for AD.

Analysis of Characterization in Commercial Extra Virgin Olive Oils (유통 압착올리브유의 이화학적인 특성)

  • Nam, Ha-Young;Lee, Ki-Teak
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.36 no.7
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    • pp.866-873
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    • 2007
  • To analyze and differentiate volatile compounds of 13 extra virgin olive oils from market, solid-phase micro extraction (SPME) GC-MS and electronic nose (EN) equipped with metal oxide sensors were applied. The volatiles identified in extra virgin olive oils include hexanal, 4-hexen-1-ol, (Z)-3-hexen-1-ol, acetic acid, and 2,4-dimethyl-heptane, etc. Response from EN was analysed by the principal component analysis. Proportion of the first Principal component was 99.70%, suggesting that each aroma pattern of the 13 extra virgin olive oils could be discriminated by EN. Fatty acid compositions were oleic (61.1${\sim}$77.9 mole%), palmitic (11.7${\sim}$16.5 mole%), linoleic (4.7${\sim}$9.7 mole%), stearic (2.5${\sim}$2.9 mole%), Palmitoleic (0.8${\sim}$2.4 mole%), and linolenic acid (0.7${\sim}$1.2 mole%). In color study, extra virgin olive oil showed $L^{\ast}$ value of 81.7${\sim}$92.9, $a^{\ast}$ value of -28.3${\sim}$13.5 and $b^{\ast}$ value of 52.2${\sim}$139.0. Total phenol and ${\alpha}-tocopherol$ contents were 6.2${\sim}$24.9 mg/100 g and 5.5${\sim}$12.8 mg/100 g, respectively. In Rancimat test, the induction period of 13 extra virgin olive oils showed 31.76${\sim}$54.04 hr while their POV ranged from 13.5 to 22.9 meq/kg oil.

의료인의 호스피스가정간호에 대한 지식과 태도 조사연구

  • Kim, Ok-Gyeom
    • Korean Journal of Hospice Care
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    • v.2 no.2
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    • pp.28-48
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    • 2002
  • The advances of medical technologies have not only prolonged human life span, but also extended suffering period for the patients with incurable medical diseases. Hospice movement was developed to help these patients keep dignity and lives peaceful at the end of their life. Since many patients prefer to spend the last moment of life at home with their family, hospice home care has become very popular worldwide. The purpose of this study for a promotion and development of hospice home care in Korea, and features basic research on medical profession's knowledge and attitudes to hospice home care. This study which was used for the research questionnaires developed by the researcher that were answered by 100 physicians and 127 nurses in a general hospital. Data were collected from April 22, 2002 to May 10, 2002. The SPSS was used to make a comparative analysis of the frequency, percentile, ANOVA, and x2-test. The results of the study were as follows; 1.The medical profession showed high level of knowledge of the definition and philosophy of hospice. However, the physician group of the examinees showed insufficient knowledge of the fact that hospice care includes bereavement care, while the nurse group's response to the same question showed a significant difference(x2=10.752, p=.001). 2.For whom the hospice home care is provided, 95.6% of the respondents showed very high level of knowledge as answering that the incurable terminal illness patients and their families are the beneficiaries of hospice care. The respondents counted nurses, volunteers, pastors, physicians and social workers, consecutively, as hospice care providers. More nurse were positive toward pastors than physicians in regarding as a hospice care provider by a significant difference(x2=11.634, p=.001). 3.For when to referral hospice home care to the patients, only 34.2% answered that patients with less than 6 months of survival time are advised to receive hospice care, reflecting very low level of knowledge. 23.0% of the physicians and 48.0% of the nurses answered that hospice care should be provided when death is imminent, making a significant difference between the two groups(x2=6.413, p=.000). 4.To promote hospice activities, 87.2% pointed out that it is crucial to make general people, including those engaging in the medical field, more aware of hospice. 79.7% answered that a national hospice management should be developed, marking a significant difference between the physician group and nurse group(x2=10.485, p=.001). 5.Advantages of hospice home care are 87.2% responded that patients can have better rest at home receiving hospice home care. Economical merit was brought forward as one of the advantages also, where there was a significant difference between the physicians group and nurse group(x2=7.009, p=.008). 6.The medical professions' attitude to hospice home care are 92.8% of the physicians answered that they would advise incurable terminally ill patients to be discharged from hospital, with 44.3% of them advising the patients to receive hospice home care after leaving the hospital. From the nurses' point of view, 20.9% of the terminally ill patients are being referred to hospice home care after discharge, which makes a significant difference from the physicians' response(x2=19.121, p=.001). 7. 30.6% of physicians have referred terminally ill patients to hospice home care, 75.9% of whom were satisfied with their decision. Those physicians who have never referred their patients to hospice home care either did not know how to do it(66.7%) or were afraid of losing trust by giving the patients an impression of giving up(27.3%). 94.9% of the physicians responded that they would refer their last stage patients to a doctor who is involving palliative care. 8.Only 36.2% of nurses have suggested to physicians that refer the terminally ill patients discharged from the hospital to hospice home care. Once suggested, 95.8% of the physicians have accepted the suggestion. Nurses were reluctant to suggest hospice home care to the physicians, as 48.8% of the nurses said they did not want to. From the result of this study the following conclusion can be drawn, the medical profession's awareness of general hospice care has been increased greatly compared to the results of the previously performed studies. However, this study result also shows that their knowledge of hospice home care is not good enough yet. There is a need for high recommended that medical education institute and develop regular courses on various types of hospice care. Medical field training courses for physicians and nurses will be very helpful as well. It is also important to train hospice experts such as palliative physicians and develop a national hospice management urgently in order to improve the hospice care in Korea.

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Association between Satisfaction with Assistive Technology Devices and Psychosocial Impact among Some Mentally or Physically Disabled Children (뇌병변 및 지체 장애아의 보조공학기기 사용 만족도와 심리사회적 영향의 관련성)

  • Jang, Kyoung-Lae;Ryu, So Yeon;Park, Jong;Han, Mi Ah
    • Journal of agricultural medicine and community health
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    • v.42 no.3
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    • pp.132-144
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    • 2017
  • Objectives: The purpose of this study was to identify the association between satisfaction with assistive technology devices and psychosocial impact among some mentally or physically disabled children. Methods: The study subjects were 120 disabled children and their primary caregivers who were using rental assistive technology devices in Gwangju and Jeollanam-Do. Data were collected by structured questionnaire composed of general characteristics of subjects, characteristics related with using assistive devices. Quebec User Evaluation of Satisfaction with assistive Technology 2.0 (QUEST 2.0) and Psychosocial Impact of Assistive Device Scale (PIADS). The statistical analysis were performed by descriptive statistics, t-test, ANOVA and Pearson's correlational analysis. Results: The total mean score for QUEST 2.0 was $4.08{\pm}0.66$ (satisfaction with devices, $4.01{\pm}0.70$; satisfaction with the assistive devices service, $4.14{\pm}0.90$) and the mean of PIADS was $1.00{\pm}0.75$ (ability, $0.99{\pm}0.78$; adaptability, $1.04{\pm}0.86$; self-respect, $0.99{\pm}0.74$). The scores of PIADS was statistically significant difference according to usage time of assistive devices. The PIADS was significantly positive correlated with QUEST 2.0 Conclusions: The mentally or physically disabled children reported that the higher level of satisfaction and the more positive impact of psychosocial aspect with assistive technology devices. It would be necessary to perform further studies for addressing the effects of assistive technology devices.

Inhibitor activity of Ulmus davidiana Planch(UD) Herbal Acupuncture Solution on Cathepsin having bone resorption activity (유근피 약침액이 골재흡수 중 Cathepsin에 대한 억제 작용)

  • Kim, Geun-sam;Jo, Hyun-seog;Hwang, Min-seob;Kim, Kap-sung;Lee, Seung-deok
    • Journal of Acupuncture Research
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    • v.22 no.3
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    • pp.1-12
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    • 2005
  • It was clarified that ethanol extract herb-acupuncture solution (EE-UD) and hydrotherapy herb-acupuncture solution (WE-UD) in Ulmus davidiana Planch (Ulmaceae), are the excellent inhibitors of cathepsin K and L. WE-UD inhibited cathepsin K when IC50 value was 5.32 ${\square}g$/ml, and suppressed cathepsin L when IC50 value was 6.34 ${\square}g$/ml. However, EE-UD indicated the activity of inhibiting cathepsin K and L in the level of 1.45 ${\square}g$/ml and 2.43 ${\square}g$/ml, thus it showed more significance than WE-UD. It could be observed that EE-VD is an excellent inhibitor to cathepsin K with Ki value of 0.8 ${\square}g$/ml. This activity is increased by 10-fold even in the analytical experiment when having operations like glutathione in pH 7.0. Also, this supports the mixture of GSH thiolate anion, thus it was thought that this increase in effectiveness is probably attributable to the enhanced chemical function in the combinations of herb-acupuncture solution towards a place of activity in enzyme. WE-UD showed the time-dependent inhibiting property, thus it allowed to know the disunion and the compounding speed in constant cathepsin K during the process of experiment. Finally, EE-UD was proved to suppress the absorbent bone ash in the experiment related to osteoclast in rats for test, and to the bone in rodent. It was proved that WE-UD has the effect of inhibiting the protease in cathepsin K and L, and in collagen of bone. These results strongly suggest that it is effective in preventing the progress of bone damage, which was induced due to cathepsin K. Also, it obtained the conclusion that it is effective to the reabsorption activity of bone in the bone marrow cells.

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Effect of Powder of Stevia rebaudiana Leaves against Quality Characteristics during Salting of Rice Bran Danmooji (쌀겨단무지의 절임 중 품질 특성의 변화에 대한 스테비아 잎 분말 첨가의 영향)

  • Kim, Yong-Suk;Lee, Sun-Kyu;Jeong, Do-Yeong;Yang, Eun-Jin;Shin, Dong-Hwa
    • Food Science and Preservation
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    • v.14 no.5
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    • pp.497-503
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    • 2007
  • In order to develop a new rice bran danmooji, changes in physicochemical characteristics and texture of danmooji treated with rice bran, Stevia rebaudiana Bertoni leaf powder, succinic acid, or yeast extract were investigated during salting for 90 days. The PH of rice bran danmooji decreased from PH6.41 initially to pH 4.09 (control group), pH 4.10 (S. rebaudiana treatment S1), pH 3.84 (S. rebaudiana + succinic acid treatment S2), and pH 3.90 (S. rebaudiana+succinic acid+yeast extract treatment S3) after 90 days of salting. At this time, the salinities of rice bran danmooji of the S1, S52, and S3 groups were 2.32%, 1.94% and 2.15% respectively. The hardness of all groups decreased rapidly in the first 30 days of salting, and thereafter showed no changes. After 90 days of salting, the hardness of all groups was $1,186-1,368\;g/cm^2$ with no significant differences between groups. Redness, the a value, of the S2 and S3 groups treated with succinic acid, was lower than that of S3, whereas yellowness, the b value, of S3 treated with succinic acid and yeast extract was the highest of the three groups. Sensory evaluation of rice bran danmooji after 90 days of salting resulted in S3 attaining the highest scores for flavor, taste, texture, and overall acceptability. These results indicate nut high-quality rice bran danmooji may be prepared by addition of S. rebaudiana leaf powder, succinic acid and yeast extract to rice bran.

Regeneration of Low Heat - Treated Sciatic Nerve of Rabbit (저온 열처리한 가토 좌골 신경의 재생)

  • Kim, Jae-Do;Kim, Sang-Jin;Jung, Cheoul-Yun;Hong, Young-Gi;Kim, Ghi-Chan
    • The Journal of the Korean bone and joint tumor society
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    • v.3 no.2
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    • pp.80-88
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    • 1997
  • Malignant tumors of extremeties involving major neurovascular structures have been treated by amputation. However recent development of diagnostic tools(CT, MRI etc.), surgical techniques, anticancer chemotherapeutic agents, and radiation techniques allow surgeons to treat malignant tumors in the limb without amputation. It has been reported that a local application of low-heat to the tissue with tumor can kill tumor cells. It is, however, not known if the attendant neural and vascular injuries may be recovered. The present study was, therefore, undertakn to address this question in rabbit sciatic nerves. A low-heat injury to the sciatic nerve was induced by perfusing the nerve with $60^{\circ}C$ saline for 30 minutes and the courses of functional and morphological recovery of the nerve were evaluated for 16 weeks. The results are summerized as follows : 1. In the electromyographic nerve conduction test the average amplitude was markedly attenuated at 4 and 8 weeks after the low-heat treatment, but it progressively increased to the level 89.5% of the control at 16 week post-treatment. The average latency in the control group was 0.62 msec. The latency in the experimental group was much longer than this at 4 and 8 week post-treatment, but it progressively reverted to the control level, showing 0.622 msec at 16 weeks. 2. In the needle EMG, many fibrillation potentials and positive sharp waves were appeared until 8 weeks post-treatment. After 16 weeks, however, no fibrillation potential was observed. 3. In the early phase of post-treatment period, the myelinated nerve fibers contained many vacuoles and the number of myelinated nerve fibers appeared to be considerably reduced. However, as time goes myelinated nerve fibers were regenerated, such that after 16 weeks the histologic appearance of the nerve was similar to that of the control group.

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