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Controversial issues in the legal restriction for prenatal genetic testing in Korea (산전검사 대상 질환에 대한 법적 규제의 문제점에 대한 고찰)

  • Choi, Ji-Young;Jeong, Seon-Yong;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.186-189
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    • 2007
  • More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

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Isolation and Characterization of vasa Gene of Triploid and Diploid Human Lung Flukes (Paragonimus westermani) (폐흡충의 이배체와 삼배체 vasa 유전자 분석 및 특징)

  • Lee, Keun-Hee;Yu, Hak-Sun;Hur, Jae-Won;Yu, Sung-Suk;Choi, Sun-Hee;Park, Sang-Kyun;Lee, Sun-Joo;Chung, Dong-Il;Kong, Hyun-Hee;Ock, Mee-Sun;Jeong, Hae-Jin
    • Journal of Life Science
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    • v.17 no.4
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    • pp.462-469
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    • 2007
  • In this study, we isolated, characterized, and compared the vasa homologous genes of diploid and triploid Paragonimus westermani and localized VASA homologous proteins in both lung fluke types. Open reading frames of Pw-vasa-2n and Pw-vasa-3n were of 1812 bp, and encoded deduced proteins of 622 amino acids with calculated molecular weights of 69.0 kDa and 68.9 kDa and pI's of 9.11 and 9.03, respectively. A comparison of these two VASA deduced protein sequences showed that only 6 of the 622 amino acids differed. The deduced sequences of Pw-VASA-2n and Pw-VASA-3n contained eight consensus sequences characteristic of the DEAD-box protein family and their N-terminal regions contained four arginine-glycine-glycine (RGG) motifs. These two lung fluke VASA-like proteins were more similar to those of other VASA proteins than to those of other DEAD-family proteins isolated from several organisms (planarian, zebra fish, mouse, and human). vasa homologous gene transcription and VASA protein expressions in triploid type lung flukes was slightly stronger than in the diploid type. Immunostaining showed that testes and a portion of the ovaries of both diploid and triploid lung flukes reacted strongly to anti-Pw-VASA antibody.

Quality Characteristics of Soybean Anchovy Sauce Added with Medicinal Herbs (약용식물을 첨가한 어간장의 품질특성)

  • Kim, Young-Sook;Yeum, Dong-Min;Roh, Sung-Bae;Kim, Young-Hee;Chung, Sun-Kyung
    • Korean Journal of Food Preservation
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    • v.15 no.3
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    • pp.367-376
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    • 2008
  • This study was conducted to investigate 1he quality characteristics of 1he soybean anchovy sauces added with medicinal herbs, Saururu chinensis Baill. and Houttuynia cordata Thunb. and fermented for 4 months. The total nitrogen content of 1he soybean anchovy sauce increased with the fermentation time showing the highest values in the sauce with Houttuynia cordata Thunb.. The contents of total sugar and reduced sugar were high in the order of the sauces with Houttuynia cordata Thunb.(sauce T), with Saururu chinensis Baill.(sauce B), and control. The content of salt decreased much more in the sauces with medicinal herbs. After 4 months of fermentation, pH was lowered from 5.86 to 5.27 in control, to 5.38 and 5.54 in sauce B and sauce T, respectively. Generally the total aerobic bacterial count increased until 3 months of fermentation and then decreased, and the addition of medicinal hems reduced the count especially showing apparent reduction in the sauce T. During the fermentation, total protease activity generally increased with the highest value in the sauce T. In the changes of nucleotides and their related compounds, the contents of AMP, ADP, and ATP were increased and hypoxanthine decreased during the fermentation, and IMP produced after 3 months. The soybean anchovy sauce B had 1he highest IMP and the lowest hypoxanthine after 4 months. The content of total amino acids increased showing 177.1 mg% and 134.7 mg% in the sauce B and sauce T respectively compared with 171.2 mg% of control. The contents of glutamic acid and aspartic acid were 29.2 mg% in sauce B and 34.3 mg% in sauce T, which were higher compared with 25.9 mg% of control. The fermented soybean anchovy sauce had 1he functionality of ACE inhibition with 70.5% (control), 72.5% (sauce B) and 81.6% (sauce T). In the results of sensory evaluation, the sance T scored the highest and the sauce B was preferred to control.

Management of Non-pain Symptoms in Terminally Ill Cancer Patients: Based on National Comprehensive Cancer Network Guidelines (말기암환자에서 통증 외 증상의 관리: 최신 NCCN(National Comprehensive Cancer Netweork) 권고안을 중심으로)

  • Lee, Hye Ran
    • The Korean Journal of Hospice and Palliative Care
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    • v.16 no.4
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    • pp.205-215
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    • 2013
  • Most terminally ill cancer patients experience various physical and psychological symptoms during their illness. In addition to pain, they commonly suffer from fatigue, anorexia-cachexia syndrome, nausea, vomiting and dyspnea. In this paper, I reviewed some of the common non-pain symptoms in terminally ill cancer patients, based on the National Comprehensive Cancer Network (NCCN) guidelines to better understand and treat cancer patients. Cancer-related fatigue (CRF) is a common symptom in terminally ill cancer patients. There are reversible causes of fatigue, which include anemia, sleep disturbance, malnutrition, pain, depression and anxiety, medical comorbidities, hyperthyroidism and hypogonadism. Energy conservation and education are recommended as central management for CRF. Corticosteroid and psychostimulants can be used as well. The anorexia and cachexia syndrome has reversible causes and should be managed. It includes stomatitis, constipation and uncontrolled severe symptoms such as pain or dyspnea, delirium, nausea/vomiting, depression and gastroparesis. To manage the syndrome, it is important to provide emotional support and inform the patient and family of the natural history of the disease. Megesteol acetate, dronabinol and corticosteroid can be helpful. Nausea and vomiting will occur by potentially reversible causes including drug consumption, uremia, infection, anxiety, constipation, gastric irritation and proximal gastrointestinal obstruction. Metoclopramide, haloperidol, olanzapine and ondansetron can be used to manage nausea and vomiting. Dyspnea is common even in terminally ill cancer patients without lung disease. Opioids are effective for symptomatic management of dyspnea. To improve the quality of life for terminally ill cancer patients, we should try to ameliorate these symptoms by paying more attention to patients and understanding of management principles.

Effects of SLA surface treated with NaOH on surface characteristics and response of osteoblast-like cell (염기처리한 SLA 표면이 표면 특성 및 골모유사세포의 반응에 미치는 영향)

  • Park, Jin-Chul;Kim, Joo-Hyeun;Kang, Eun-Sook;Ryu, Jae-Jun;Huh, Jung-Bo
    • The Journal of Korean Academy of Prosthodontics
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    • v.52 no.3
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    • pp.211-221
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    • 2014
  • Purpose: The purpose of this study was to evaluate the surface characteristics and response of osteoblast-like cell at SLA surface treated with NaOH. Materials and methods: Three kinds of specimens were fabricated for the experiment groups. Control group was a machined surface, SLA group was a conventionally SLA treated surface, and SLA/NaOH gorup was SLA surface treated with NaOH. To evaluate the surface characteristics, the surface elemental composition (XPS), surface roughness and surface contact angle were evaluated in each group. And the cytotoxicity, cell adhesion, cell proliferation and ATP activity of osteoblast-like cells (MG-63 cells) were compared in each group for evaluatation of the cell responses. Statistical comparisons between groups were carried out via one-way ANOVA using the SPSS software (SPSS Inc., Chicago, USA), and then performed multiple comparisons. The differences were considered statistically significant at P<.05. Results: SLA surface treated with NaOH (SLA / NaOH group) was changed to hydrophilic surface. All groups did not show the cytotoxicity to the MG-63. In cell adhesion studies, SLA / NaOH group showed the higher degree of adhesion than anothers (P<.05), Up to 7 days of incubation, the proliferation was showed the increasing tendency in all groups but SLA / NaOH group showed the highest cell proliferation between the three groups (P<.05). At 7 days of incubation, there was no difference in ALP activities between the three groups, but at 14 days, SLA / NaOH group showed significant increase in ALP activities (P<.05). Conclusion: In this study, SLA surface treated with NaOH promoted cell adhesion, proliferation and differentiation. It means that SLA/NaOH group is possible to promote osseointegration of implants.

Studies on Nutrio-physiological Response of Rice Plant to Root Environment (근부환경(根部環境)에 따른 수도(水稻)의 영양생리적(營養生理的) 반응(反應)에 관(關)한 연구(硏究))

  • Park, J.K.;Kim, Y.S.;Oh, W.K.;Park, H.;Yazawa, F.
    • Korean Journal of Soil Science and Fertilizer
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    • v.2 no.1
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    • pp.53-68
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    • 1969
  • The nutriophysiological response of rice plant to root environment was investigated with eye observation of root development and rhizosphere in situation. The results may be summarized as follows: 1) The quick decomposition of organic matter, added in low yield soil, caused that the origainal organic matter content was reached very quickly, in spite of it low value. In high yield soil the reverse was seen. 2) In low yield soil root development, root activity and T/R value were very low, whereas addition of organic matter lowered them still wore. This might be contributed to gas bubbles around the root by the decomposition of organic matter. 3) Varietal difference in the response to root environment was clear. Suwon 82 was more susceptible to growth-inhibitine conditions on low-yield soil than Norin 25. 4) Potassium uptake was mostly hindered by organic matter, while some factors in soil hindered mostly posphorus uptake. When the organic matter was added to such soil, the effect of them resulted in multiple interaction. 5) The root activity showed a correlation coeffieient of 0.839, 0.834 and 0.948 at 1% level with the number of root, yield of aerial part and root yield, respectively. At 5% level the root-activity showed correlation-coefficient of 0.751, 0.670 and 0.769 with the uptake of the aerial part of respectively. N, P and K and a correlation-coefficient of 0.729, 0.742 and 0.815 with the uptake of the root of respectively N.P. and K. So especially for K-uptake a high correlation with the root-activity was found. 6) The nitrogen content of the roots in low-yield soil was higher than in high-yield soil, while the content in the upper part showed the reverse. It may suggest ammonium toxicity in the root. In low-yield soil Potassium and Phosphorus content was low in both the root and aerial part, and in the latter particularly in the culm and leaf sheath. 7) The content of reducing sugar, non-recuding sugar, starh and eugar, total carbohydrates in the aerial part of plants in low yield soil was higher than in high yield soil. The content of them, especially of reducing sugar in the roots was lower. It may be caused by abnormal metabolic consumption of sugar in the root. 8) Sulfur content was very high in the aerial part, especially in leaf blade of plants on low yield soil and $P_2O_5/S$ value of the leaf blade was one fifth of that in high yield soil. It suggests a possible toxic effect of sulfate ion on photophosphorization. 9) The high value of $Fe/P_2O_5$ of the aerial part of plants in low yield soil suggests the possible formation of solid $Fe/PO_4$ as a mechanical hindrance for the translocation of nutrients. 10) Translocation of nutrients in the plant was very poor and most nutrients were accumulated in the root in low yield soil. That might contributed to the lack of energy sources and mechanical hindrance. 11) The amount of roots in high yield soil, was greater than that in low yield soil. The in high-yield soil was deep, distribution of the roots whereas in the low-yield soil the root-distribution was mainly in the top-layer. Without application of Nitrogen fertilizer the roots were mainly distributed in the upper 7cm. of topsoil. With 120 kg N/ha. root were more concentrated in the layer between 7cm. and 14cm. depth. The amount of roots increased with the amount of fertilizer applied.

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