• Title/Summary/Keyword: Screening

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A Study on the Screening of the Novel Genes Associated with Lysosomal Trafficking and Mutation Detection in Fibroblasts of the Patients with Mucolipidosis type II and III (리소좀 교통 이상을 초래하는 뮤코지방증 2형과 3형 환자의 섬유아세포를 이용한 신규 유전자 탐색 및 돌연변이에 대한 연구)

  • Song, Seng Mi;Chang, Soo Hee;Paik, Kyung Hoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.5 no.1
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    • pp.65-75
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    • 2005
  • Purpose: To understand genetic differences and similarities between mucolipidosis and control. Methods: Using the fibroblast of the mucolipidosis II and control, forward and reverse subtracted libraries were constructed. Among these clones, we investigated mutations in the GNPTA (MGC4170) gene, which codes for the ${\alpha}/{\beta}$ subunits of phosphotransferase, and in the GNPTAG gene, which codes for the ${\gamma}$ subunits in 5 Korean patients with mucolipidosis type II or IIIA. Result: Several differentially expressed cDNAs were cloned and their sequences were determined. Mutation analysis of the interested gene, GNPTA was performed and we identified 7 mutations in the GNPTA gene, but none in the GNPTAG gene. The mutations in type II patients included p.Q104X(c.310C>T), p.R1189X(c.3565C>T), p.S1058X(c.3173C>G), p.W894X(c.2681G>A) and p.H1158fsX15(c.3474_3475delTA), all of which are non-sense or frame shift mutations. However, a splicing site mutation, IVS13+1G>A (c.2715+1G>A) was detected along with a non-sense or a frame shift mutation (p.R1189X or p.E858fsX3(c.2574_2575delGA)) in two mucolipidosis type IIIA patients. Conclusion: This report shows that mutations in the GNPTA gene coding for the ${\alpha}{\beta}$subunits of phosphotransferase, and not mutations in the GNPTAG gene, account for most of mutations found in Korean patients with mucolipidosis type II or IIIA.

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Diagnosis of Pigs Producing PSE Meat using DNA Analysis (DNA검사기법을 이용한 PSE 돈육 생산 돼지 진단)

  • Chung Eui-Ryong;Chung Ku-Young
    • Food Science of Animal Resources
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    • v.24 no.4
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    • pp.349-354
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    • 2004
  • Stress-susceptible pigs have been known as the porcine stress syndrome (PSS), swine PSS, also known as malignant hyperthermia (MH), is characterized as sudden death and production of poor meat quality such as PSE (pale, soft and exudative) meat after slaughtering. PSS and PSE meat cause major economic losses in the pig industry. A point mutation in the gene coding for the ryanodine receptor (RYR1) in porcine skeletal muscle, also known calcium (Ca$^{2+}$) release channel, has been associated with swine PSS and halothane sensitivity. We used the PCR-RFLP(restriction fragment length polymorphism) and PCR-SSCP (single strand conformation polymorphism) methods to detect the PSS gene mutation (C1843T) in the RYR1 gene and to estimate genotype frequencies of PSS gene in Korean pig breed populations. In PCR-RFLP and SSCP analyses, three genotypes of homozygous normal (N/M), heterozygous carrier (N/n) and homozygous recessive mutant (n/n) were detected using agarose or polyacrylamide gel electrophoresis, respectively. The proportions of normal, carrier and PSS pigs were 57.1, 35.7 and 7.1% for Landrace, 82.5, 15.8 and 1.7% far L. Yorkshire, 95.2, 4.8 and 0.0% for Duroc and 72.0, 22.7 and 5.3% for Crossbreed. Consequently, DNA-based diagnosis for the identification of stress-susceptible pigs of PSS and pigs producing PSE meat is a powerful technique. Especially, PCR-SSCP method may be useful as a rapid, sensitive and inexpensive test for the large-scale screening of PSS genotypes and pigs with PSE meat in the pork industry.y.

Production of Conjugated Linoleic Acid by Lactobacillus acidophilus Isolated from Breast-Fed Infants (모유 섭취 신생아 유래 Lactobacillus acidophilus에 의한 Conjugated Linoleic Acid 생성)

  • Park, Jeong-Gyu;Song, Won-Ho;Hong, Sung-Moon;Kim, Cherl-Hyun
    • Food Science of Animal Resources
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    • v.28 no.5
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    • pp.580-586
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    • 2008
  • Conjugated linoleic acid (CLA) is a mixture of positional and geometric isomers of linoleic acid with conjugated double bonds. These conjugated dienes were found to be responsible for many biological properties related to health. The objective of this study was to evaluate the production of cis-9, trans-11 CLA by Lactobacillus acidophilus isolated from breast-fed infants. Nine different cultures were tested for their ability to produce cis-9, trans-11 CLA from free linoleic acid in MRS broth and 8% reconstituted skim milk medium supplemented with linoleic acid at $37^{\circ}C$ for 48 hr. cis-9, trans-11 CLA was not detected or detected in very small amount when cell pellets of strains grown in MRS broth and 8% reconstituted skim milk supplemented with linoleic acid of $200{\mu}g/mL$. However, free cis-9, trans-11 CLA was produced in both media. It appeared that 8% reconstituted skim milk produced more cis-9, trans-11 CLA than MRS broth. L. acidophilus NB 203 and NB 209 produced more cis-9, trans-11 CLA than other tested cultures. The inhibitory effects of supplemented linoleic acid on the growth of L. acidophilus NB 203 and NB 209 were not detected up to $3,000{\mu}g/mL$ linoleic acid addition during the growth at $37^{\circ}C$ for 48 h. The production of cis-9, trans-11 CLA by these two L. acidophilus strains increased in the logarithmic growth phase until 24 hr incubation. Under this experimental condition, the best yield of CLA isomers for L. acidophilus NB 203 and NB 209 could be obtained from medium supplemented with $500{\mu}g/mL$ linoleic acid at $37^{\circ}C$ after 24 hr of incubation. These results indicate that the use of lactic acid bacteria producing free CLA in fermented dairy products may have potential health or nutritional benefits.

Screening of Adsorbent to Reduce Salt Concentration in the Plastic Film House Soil under Continuous Vegetable Cultivation (시설채소재배지의 토양특성과 흡착제 종류별 염류경감 효과)

  • Ok, Yong-Sik;Yoo, Kyung-Yoal;Kim, Yoo-Bum;Chung, Doug-Young;Park, Yong-Ha;Yang, Jae-E.
    • Korean Journal of Environmental Agriculture
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    • v.24 no.3
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    • pp.253-260
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    • 2005
  • Salt accumulation in the plastic film house soils under continuous cultivation condition causes problems such as salt damages to plants, nitrate accumulation in vegetables, groundwater contamination, etc. due to excess application of fertilizers. Objective of this research was to find an optimum adsorbent to reduce salt concentration in the soil solution of plastic film house soils, where crop injuries have been observed due to the salt accumulation. The soils were significantly high in available P $(1,431{\sim}6,516mg\;kg^{-1}),\;NO_3-N\;(117.60{\sim}395.73mg\;kg^{-1})$, exchangeable Ca $(4.06{\sim}11.07\;cmol_c\;kg^{-1})$ and Mg $(2.59{\sim}18.76\;cmol_c\;kg^{-1})$, as compared to those of the average upland soils in Korea. Soils were treated with each of adsorbent such as ion-exchange resin, zeolite, rice bran, etc. at 2% level and prepared into saturated-paste samples. After equilibrium, soil solution was vacuum-extracted from the soil and measured for changes of the pH, EC, and concentrations of $Ca^{2+},\;Mg^{2+},\;K^+,\;Na^+,\;{NH_4}^+,\;{PO_4}^{3-}\;and\;{NO_3}^-$. Rice bran effectively removed ${PO_4}^{3-}\;and\;{NO_3}^-$ in the soil solution up to 100%. Efficiency was decreased in the orders of rice bran > ion-exchange resin > zeolite. Removal efficiencies of zeolite and ion-exchange resin for $Ca^{2+}$ were ranged from 1 to 65% and from 7 to 61%, respectively. Ion-exchange resin was also effective for removing $Mg^{2+},\;K^+,\;Na^+,\;and\;{NH_4}^+$. Overall results demonstrated that rice bran and ion-exchange resin could be applicable for salt accumulated soil to remove the respective anion and cation.

Immunomodulatory Activity of Water Extract of Ulmus macrocarpa in Macrophages (유근피 추출물이 대식세포 면역조절에 미치는 영향)

  • Kwon, Da Hye;Kang, Hye-Joo;Choi, Yung Hyun;Chung, Kyung Tae;Lee, Jong Hwan;Kang, Kyung Hwa;Hyun, Sook Kyung;Kim, Byung Woo;Hwang, Hye Jin
    • Journal of Life Science
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    • v.26 no.1
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    • pp.50-58
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    • 2016
  • The root bark of Ulmus macrocarpa has been used in traditional medicine for the treatment of various diseases such as edema, infection and inflammation. Nevertheless, the biological activities and underlying mechanisms of the immunomodulatory effects remain unclear. In this study, as part of our ongoing screening program to evaluate the immunomodulatory potential of new compounds from traditional medicinal resources, we investigated the effects of U. macrocarpa water extract (UME) on immune modulation in a murine RAW 264.7 macrophage model. As immune response parameters, the productions of as nitric oxide (NO) and cytokines such tumor necrotic factor (TNF)-α, interleukin (IL)-1β and IL-10 were evaluated. Although the release of IL-1β remained unchanged in UME-treated RAW 264.7 macrophages, the productions of NO, TNF-α and IL-10 were significantly increased, along with the increased expression of inducible NO synthase, TNF-α and IL-10 expression at concentrations with no cytotoxicity. UME treatment also induced the nuclear translocation of nuclear factor κB (NF-κB), and phosphorylation of Akt and mitogen-activated protein kinases (MAPKs) indicating that UME activated macrophages through the activation of NF-κB, phosphoinositide-3-kinase (PI3K)/Akt and MAPKs signaling pathways in RAW 264.7 macrophages. Furthermore, pre-treatment with UME significantly attenuated the production of NO, but not TNF-α, IL-1β and IL-10, in lipopolysaccharide-stimulated RAW 264.7 cells suggesting that UME may be useful in preventing inflammatory diseases mediated by excessive production of NO. These findings suggest that the beneficial therapeutic effects of UME may be attributed partly to its ability to modulate immune functions in macrophages.

Interaction of Ras-GTPase-activating Protein SH3 Domain-binding Proteins 2, G3BP2, With the C-terminal Tail Region of KIF5A (Ras-GTPase-activating protein SH3 domain-binding proteins 2, G3BP2와 KIF5A C-말단 꼬리 영역과의 결합)

  • Jeong, Young Joo;Jang, Won Hee;Lee, Won Hee;Kim, Mooseong;Kim, Sang-Jin;Urm, Sang-Hwa;Moon, Il Soo;Seog, Dae-Hyun
    • Journal of Life Science
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    • v.27 no.10
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    • pp.1191-1198
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    • 2017
  • Vesicles and organelles are transported along microtubule and delivered to appropriate compartments in cells. The intracellular transport process is mediated by molecular motor proteins, kinesin, and dynein. Kinesin is a plus-end-directed molecular motor protein that moves the various cargoes along microtubule tracks. Kinesin 1 is first isolated from squid axoplasm is a dimer of two heavy chains (KHCs, also called KIF5s), each of which is associated with the light chain (KLC). KIF5s interact with many different binding proteins through their carboxyl (C)-terminal tail region, but their binding proteins have yet to be specified. To identify the interacting proteins for KIF5A, we performed the yeast two-hybrid screening and found a specific interaction with Ras-GTPase-activating protein (GAP) Src homology3 (SH3)-domain-binding protein 2 (G3BP2), which is involved in stress granule formation and mRNA-protein (mRNP) localization. G3BP2 bound to the C-terminal 73 amino acids of KIF5A but did not interact with the KIF5B, nor the KIF5C in the yeast two-hybrid assay. The arginine-glycine-glycine (RGG)/Gly-rich region domain of G3BP2 is a minimal binding domain for interaction with KIF5A. However, G3BP1 did not interact with KIF5A. When co-expressed in HEK-293T cells, G3BP2 co-localized with KIF5A and was co-immunoprecipitated with KIF5A. These results indicate that G3BP2, which was originally identified as a Ras-GAP SH3 domain-binding protein, is a protein that interacts with KIF5A.

Ultrasonographic Evaluation in Patients with Inguinal Hernia (서혜부 탈장에서의 초음파 조영술)

  • Kwon, Oh-Kyoung;Jung, Jin-Hyang;Park, Jin-Young;Chang, Soo-Il
    • Advances in pediatric surgery
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    • v.8 no.1
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    • pp.16-22
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    • 2002
  • Between March 1999 and January 2000, 82 boys with the diagnosis of inguinal hernias (12 bilateral and 70 unilateral hernias), underwent Ultrasound (US) examination of both sides of the groin, a total of 164 inguinal imaging prior to surgery. The patients ages ranged from 3 days to 12 years with a mean of 32.6 months. Ninty four examinations were on the clinically symptomatic side and 70 were on the asymptomatic side. The US criteria for the diagnosis of an inguinal hernia were as follows: 1) visceral hernia, the presence of bowel loops, or omentum in the inguinal canal, 2) communicating hydrocele, the presence of fluid in the processus vaginalis, 3) widening of patent processus vaginalis at the level of internal inguinal ring. The width of patent processus vaginalis at the level of internal inguinal ring over 4 mm is considered an occult hernia. Among the 94 symptomatic groins, US findings showed 31 (33%) visceral hernias, 18 (19%) communicating hydroceles, and 38 (41%) widening of the internal inguinal ring, and 7 (7%) groins without abnormalities. In 70 asymptomatic groins, there were 4 (6%) visceral hernias, 5 (7%) communicating hydroceles, 11 (16%) widening of the internal inguinal ring, and 50 (70%) groins without abnormalities. Among the 70 asymptomatic groins there were US abnormalities in 20 (28%). One hundred and seven groins with positive US findings were surgically explored. Among 107 operated sites, the operative findings were compatible with the US diagnosis in 104, a sensitivity for US of 97.2%. In patients with US findings of widening of internal inguinal ring (>4 mm), there was patent processus vaginalis in 36 out of 38 symptomatic groins and 10 of 11 asymptomatic groins. The sensitivity of US to the operative findings in widening of internal inguinal ring was 93.8%. For visceral hernia and communicating hydrocele, the sensitivity of positive US findings was 100%. Ultrasonography for inguinal hernias appears to be a rapid, reliable, and noninvasive screening diagnostic tool with high positive specificity. Therefore, we recommend the use of US as a routine diagnostic tool in pediatric patients with inguinal hernias and hydroceles.

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A Study on the Clinical Usefulness of MMSE and BCRS for Cognitive Function Test in Patients with Non-Traumatic Subcortical Cerebrovascular Disease (비외상성 피질하 뇌혈관질환 환자에서 인지평가도구로서 정신상태소검사(MMSE)와 간이인지평가척도(BCRS)의 임상적 유용성에 대한 연구)

  • Choi, Hong;Lee, Young-Ho;Choi, Young-Hee;Ko, Dae-Kwan;Chung, Young-Cho;Park, Byoung-Kwan;Kim, Soo-Ji;Chung, Sook-Haui;Ko, Byoung-Hee;Song, Il-Byoung;Park, Kun-Woo;Lee, Dae-Hie
    • Sleep Medicine and Psychophysiology
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    • v.3 no.1
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    • pp.68-78
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    • 1996
  • Objective : The Mini-Mental State Examination(MMSE) and Brief Cognitive Rating Scale(BCRS) are frequently using screening tests fur evaluating the cognitive function in clinical practice and research. The authors tried to evaluate the clinical usefulness of these tests for the patients with non-traumatic subcortical cerebrovascular disease. Method : We administered the MMSE and BCRS to 85 patients and 195 normal control group. In order to compare the test results according to the lesion site, we divided patients into left sided lesion group(21 patients), right sided lesion group(31 patients) and both sided lesion group(13 patients). Their cognitive function was evaluated by the BNA and daily living functional activity was examined by the IADLs(Instrumental Activities of Daily Living Scale)and GERRI(Geriatric Evaluation by Relative's Rating Instrument). Results : The results are as follows : 1) In the BNA, the patients scored significantly lower than control group at all items(except Right-Left Orientation and Motor Impersistence), but there were no difference in the MMSE(total score and all 5 items), and only 2 items(recent memory and self-care) were significantly different between two groups in the BCRS. 2) In the comparison by lateralization, there were significant differences among three groups at 3 items(Left Tactile Form Perception, Left Finger Localization and Right Finger Localization) in the BNA. But, there were no difference in the MMSE and BCRS. 3) In the correlation between daily living functioning and the MMSE/BCRS, control group showed no relation(except item of cognitive functioning), but patient group was significantly correlated with 3 items(social functioning, instrumental activities of daily living and cognitive functioning). Conclusions : These findings suggest that MMSE and BCRS are not useful as the test for cognitive function and discrimination of lateralization in patients with non-traumatic subcortical cerebrovascular disease. However, scores of these tests may be related with the functional level(such as daily living function) of patients.

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A Study on the Relationship between Sleep Quality and Cognitive Function in Community Elderly (지역사회 노인에서의 수면의 질과 인지기능의 관련성에 대한 연구)

  • Oh, Youn-Kyoun;Kim, Bong-Jo;Park, Chul-Soo;Lee, Cheol-Soon;Cha, Bo-Seok;Lee, So-Jin;Lee, Dong-Yun;Seo, Ji-Yeong;Choi, Jae-Won;Lee, Young-Ji;Lee, Jae-Hon;Lee, Youn-Jung
    • Sleep Medicine and Psychophysiology
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    • v.27 no.1
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    • pp.16-23
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    • 2020
  • Objectives: Sleep disturbance in the elderly is associated with cognitive decline. Sleep quality is known to deteriorate with age, and prospective studies seldom have examined the relationship between sleep quality and cognitive function. This study investigates the relationship between early sleep quality and cognitive function based on six-year follow-up data of community individuals older than 60 years. Methods: The participants included 622 community elderly people older than 60 years from Jinju-Si. The final analysis comprised 322 elderly people. Pittsburgh sleep quality index (PSQI) and the Korean version of Consortium to Establish a Registry for Alzheimer's Disease (CERAD-K) were used to assess early sleep quality and cognitive function after six years. Multiple linear regression analysis was performed to investigate the association between early sleep quality and cognitive function in the elderly. Results: Early sleep quality (PSQI) was significantly associated with the results of the digit span test, clock drawing test (clox 1), and word recall test after six years. Sleep quality (PSQI) decreased significantly after six years, and lower quality of sleep (PSQI) score was associated with higher digit span test score (β = -0.167, p = 0.026) and higher clock drawing test score (β = -0.157, p = 0.031). Lower quality of sleep (PSQI) score was associated with higher word recall test (β = -0.140, p = 0.039). Conclusion: The digit span test, word recall test, and clock drawing task (CLOX 1) shown to be significantly associated to sleep quality can be performed fast and easily in clinical practice. It is important to assess early cognitive function in the elderly with poor sleep quality, and further studies could suggest that these tests may be useful screening tests for early dementia in elderly with poor sleep quality.

Management of Tuberculosis Outbreak in a Small Military Unit Following the Korean National Guideline (국내 결핵관리지침에 따른 군내 결핵 집단발병 관리 사례 보고)

  • Ji, Sang Hoon;Kim, Hee Jin;Choi, Chang Min
    • Tuberculosis and Respiratory Diseases
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    • v.62 no.1
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    • pp.5-10
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    • 2007
  • Background: Korean national guidelines for examining contacts with active pulmonary tuberculosis (TB) are a tuberculin skin test (TST) and chest radiographs. The treatment of a latent TB infection as performed only in those younger than six years of age who test positive for TST. Although there is a high incidence of active TB in young Korean soldiers, the current national guidelines for controlling contacts with active TB in soldiers are insufficient. This study highlights the problems with the Korean guidelines for controlling a TB outbreak in a small military unit. Material and Methods: In December of 2005, there was a tuberculosis outbreak in a military unit with a total of 464 soldiers in Kyung Gi province. The chest radiographs were taken of all the soldiers, and TST were carried out on 408 candidates. Results: In the first screening of the chest radiographs, two active TB patients were detected. By August of 2006, four additional cases were detected, making a total of six cases after the outbreak. All the patients showed active pulmonary TB or TB pleuritis. When the results of TST in the close contacts and non-close contacts were compared, there was a significant difference in the absolute size of the induration($9.70{\pm}7.50mm$ vs. $6.26{\pm}7.02mm$, p<0.001) as well as the ratio of patients showing an induration > 10mm (50.0% vs. 32.0%, p<0.001) and 15mm (33.2% vs. 20.9%, p= 0.005). Conclusion: Although the national guidelines for managing a TB outbreak in a military unit were followed, there were continuous instances of new active TB cases. This highlights the need for new guidelines to prevent the spread of TB.