• Title/Summary/Keyword: 유전적 분석

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A Clinical Study for Gall Bladder Stones in Children (소아 담석증에 대한 임상적 연구)

  • Eun, Ho Seon;Baek, Seoung Yon;Chung, Ki Sup
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.8 no.2
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    • pp.194-201
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    • 2005
  • Purpose: Gall bladder (GB) stones in children are rarely observed, and so reports of them have been quite limited in Korea. Therefore, we tried to assess the epidemiology and clinical features of children with GB stone diagnosed at Severance Hospital. Methods: A clinical study was performed on 18 patients below 15 years of age diagnosed with GB stone by abdominal ultrasonography or CT scan at Severance hospital from January 1999 to May 2005. Results: Concerning patients' profile, their sex ratio of male to female in total 18 cases was 2 : 1 with the mean age of $6{\pm}4.3years$. 15 patients (83.3%) were asymptomatic. Inducing factors were found in 14 children (77.8%) including ceftriaxone therapy in 6 cases (33.3%), infection in 4 cases (22.2%), spherocytosis in 3 cases (16.7%), Down syndrome and abdominal operation in 1 case (5.6%) respectively. Single stone was found in 13 cases (76.5%) and multiple in 4 cases (23.5%). 15 cases (88.2%) had the stones less than 5 mm in size, and 2 cases (11.8%) between 5 and 10 mm. 17 patients received conservative treatment, and one patient had cholecystectomy due to Meckel diverticulum. Conclusion: In this report, Pediatric GB stones are predominant in male children, without typical symptoms, having inducing factors, single and small. Recently the diagnosis of them has been increased because of the development of imaging study. But the reports for them were still rare in Korea. Therefore the study for them is more necessary to find it's clinical characteristics.

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Heart Rate Variability and Autonomic Activity in Patients Affected with Rett Syndrome (Rett 증후군 환자에서의 자율신경 활성도 및 심박수 변이도 측정)

  • Choi, Deok Young;Chang, Jin Ha;Chung, Hee Jung
    • Clinical and Experimental Pediatrics
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    • v.46 no.10
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    • pp.996-1002
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    • 2003
  • Purpose : In Rett syndrome patients, the incidence of sudden death is greater than that of the general population, and cardiac electrical instability including fatal cardiac arrhythmia is a main suspected cause. In this study, we are going to find out the possible cause of the higher risk of sudden death in Rett patients by the evaluation of heart rate variability, a marker of cardiac autonomic activity and corrected QT intervals. Methods : Diagnosis of Rett syndrome was made by molecular genetic study of Rett syndrome (MECP2 gene) or clinical diagnostic criteria of Rett syndrome. Heart rate variability and corrected QT intervals were measured by 24 h-Holter study in 12 Rett patients, and in 30 age-matched healthy children with chief complaints of chest pain or suspected heart murmurs. The were compared with the normal age-matched control. Results : Patients with total Rett syndrome, classic Rett syndrome, and Rett variants had significantly lower heart rate variability(especially rMSSD)(P<0.05) and longer corrected QT intervals than age-matched healthy children(P<0.05). Sympathovagal balance expressed by the ratio of high to low frequency(LF/HF ratio) also showed statistically significant differences between the three groups considered(P<0.05). Conclusion : A significant reduction of heart rate variability, a marker of autonomic disarray, suggests a possible explanation of cardiac dysfunction in sudden death associated with Rett syndrome.

The Clinical Features of Chronic Neonatal Hepatitis: Non-familial, Non-metabolic and Non-A, B, C Viral Hepatitis (만성 신생아 간염의 임상적 고찰: 비-가족형, 비-대사성, 비-A, B, C형 바이러스성 신생아 간염)

  • Park, Ji Ae;Lee, Chang Hun;Park, Jae Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.9 no.2
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    • pp.242-248
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    • 2006
  • Purpose: Neonatal hepatitis is the major cause of neonatal cholestasis and may be divided into infectious, metabolic, genetic, and idiopathic neonatal hepatitis. Non-familial, non-metabolic, and non-A, B, C viral neonatal hepatitis is known to have made satisfactory progress, but little is known about its chronic clinical features. Methods: Clinical and histological assessments were carried out in 34 cases with chronic neonatal hepatitis [elevated serum alanine aminotrasferase (ALT) level for more than 6 months] except for A, B, C viral hepatitis, metabolic, or genetic neonatal hepatitis, who were admitted to the Department of Pediatrics, Pusan National University Hospital, from January 1998 to January 2004. Results: Males were more common (70%). Jaundice (100%) and hepatomegaly (44%) were frequent manifestations. Peak serum ALT levels were most commonly below 300 IU/L in 41.2% of patients and peak serum direct bilirubin levels were most commonly between 1.0~5.0 mg/dL in 50% of patients. Ten cases (34%) of 29 patients had positive serum cytomegalovirus (CMV) IgM or urine CMV polymerase chain reaction. Serum ALT level was normalized within 1 year in 11 (37.9%) of 29 cases, and within 2 years in 9 (69.2%) of 13 cases. Serum ALT level was elevated persistently over 2 years in four (30.7%) of 13 cases. Histologic findings such as portal or periportal activity, lobular necrosis, portal or periportal fibrosis were more severe in patients with persistent ALT elevation over 2 years than in those showing normalization of ALT within 2 years (p>0.05). Conclusion: When the elevation of ALT level sustains over 1 year in non-familiar, non-metabolic, non-A, B, C viral neonatal hepatitis, an assessment of the severity of liver injury and a careful monitoring about chronic liver disease may be required.

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The Effects of Various Factors on Milk Yield and Variation in Milk Yield Between Milking, Milk Components, Milking Duration, and Milking Flow Rate in Holstein Dairy Cattle (착유우의 연속유량, 유량변이, 유성분, 체세포수, 비유지속시간, 비유속도에 대한 산차, 착유시간, 유기 및 착유간격의 효과)

  • Ahn, B.S.;Jeon, B.S.;Baek, K.S.;Park, S.J.;Lee, H.J.;Lee, W.S.;Kim, S.B.;Park, S.B.;Kim, H.S.;Ju, J.C.;Khan, M. A.
    • Journal of Animal Science and Technology
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    • v.47 no.6
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    • pp.919-924
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    • 2005
  • This study was carried out to estimate the effects of parity, milking time, milking interval and days in milk(DIM) on variation in milk yield between consecutive milkings(am to pm to am), morning and evening milk yield and its components, somatic cell counts(SCS), milking duration, milk flow rate and peak milk flow in Holstein dairy cattle. Records from one hundred and twenty two heads of Holstein cattle at National Livestock Research Institute, Korea were used for this study from July 1 to August 8, 2005. The experimental herd had average 1.6$\pm$0.9 parities, 199.8$\pm$109.1 DIM and 12.26$\pm$4.06kg milk yields at each milking. Milking yield, percent milk fat and SNF, milking duration and average milk flow were significantly varied by parity, milking time and DIM. Percent milk protein and lactose were varied by parity and DIM, however SCS and average milk flow were affected by parity and milking time. Milking interval significantly affected the consecutive, morning and evening milk yield and average milk flow. However, MUN was not affected by parity, milking time, DIM and milking interval. Milk yield was decreased with increasing parity. Milk yield in the morning was higher than that of in the evening. Milk yield between consecutive milking was not affected by parity, however, affected by milking time. Percent milk Fat, SNF and SCS were higher at in evening milk than those of in morning milk. Milk protein, lactose, SNF, SCS, milking duration and peak milk flow rate were influenced by parity. This study suggested that milk yield variation between consecutive milking, milking flow rate, and milking duration could be important traits for enhancing Holstein cattle productivity however, and more study is needed to estimate genetic parameters for such traits.

Effect of Developmental Stages on Glucosinolate Contents in Kale (Brassica oleracea var. acephala) (생장단계에 따른 케일 내 글루코시놀레이트 함량)

  • Lee, Heon-Hak;Yang, Si-Chang;Lee, Min-Ki;Ryu, Dong-Ki;Park, Suhyoung;Chung, Sun-Ok;Park, Sang Un;Lim, Yong-Pyo;Kim, Sun-Ju
    • Horticultural Science & Technology
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    • v.33 no.2
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    • pp.177-185
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    • 2015
  • The aim of this study was to investigate the amounts of glucosinolates (GSL) in kale at various development stages. Kale varieties 'Manchoo Collard' and 'TBC' were cultivated from 20 February 2012 to 3 July 2013 in the greenhouse at Chungnam National University. During the cultivation periods, samples were harvested at 35, 63, 91, 105, 119, and 133 days after sowing (DAS) and the amount of GSL quantified by HPLC. Ten types of GSL (progoitrin, sinigrin, glucoalyssin, gluconapin, glucoiberverin, 4-hydroxyglucobrassicin, glucobrassicin, 4-methoxyglucobrassicin, gluconasturtiin, and neoglucobrassicin) were observed in 'TBC', whereas nine types of GSL (the same as above, except glucoiberverin) were identified in 'Manchoo Collard'. The amount of total GSL in 'Manchoo Collard' was comparatively higher at 133 DAS (mean $8.64{\mu}mol{\cdot}g^{-1}$) and lower at 35 DAS ($1.16{\mu}mol{\cdot}g^{-1}$ dry weight, DW) of cultivation. In the case of 'TBC', the amount of GSL was higher at 91 DAS (mean $13.41{\mu}mol{\cdot}g^{-1}$) and lower at 35 DAS ($0.31{\mu}mol{\cdot}g^{-1}$ dry weight, DW). Sinigrin was the most abundant GSL (57% of total GSL) in 'Manchoo Collard' at 133 DAS and was also highest (44%) in 'TBC' at 91 DAS. Together, progoitrin, sinigrin, glucobrassicin, and gluconasturtiin, the precursor of crambene, allylisothiocyanate, indol-3-cabinol, and phenethylisothiocyanate accounted for 94 and 78% of GSL in 'Manchoo Collard' and 'TBC', respectively. Our results demonstrate that the amounts of GSL, which have potential anti-carcinogenic activity, change during development in kale.

Association study of polymorphism in leukotriene C4 synthase and cysteinyl leukotriene receptor 1 genes with phenotype of asthma and clinical parameters in Korean children (Leukotrienes C4 synthase와 cysteinyl leukotriene receptor 1 유전자 다형성과 한국 소아 천식 표현형 및 임상 지표와의 연관성 연구)

  • Shim, Jung Yeon;Kim, Byung-Joo;Song, Young Hwa;Kang, Mi-Jin;Lee, So-Yeon;Kim, Hyo-Bin;Yu, Jinho;Hong, Soo-Jong
    • Clinical and Experimental Pediatrics
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    • v.52 no.6
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    • pp.680-688
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    • 2009
  • Purpose : Cysteinyl leukotrienes are important proinflammatory mediators in asthma. Recently, it was suggested that a promoter polymorphism in the genes encoding for leukotriene C4 synthase (LTC4S), a key enzyme in the leukotriene synthetic pathway, and cysteinyl leukotriene receptor 1 (CysLTR1) might be associated with aspirin-intolerant asthma. We investigated whether polymorphisms in LTC4S and CysLTR1 genes or their interactions were associated with the asthma phenotype, lung function, or bronchial hyperreactivity (BHR) in Korean children. Methods : A total of 856 asthmatic children and 254 non-asthmatic controls were enrolled; a skin prick test, lung function test and bronchial provocation test were performed. Of those enrolled, 395 children underwent exercise challenge tests. The LTC4S A(-444)C and CysLTR1 T(+927)C were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. Results : Of those enrolled, 699 children were classified as having atopic asthma and 277 children, as having exercise-induced asthma (EIA). LTC4S and CysLTR1 polymorphisms were not associated with atopic asthma, EIA, or asthma per se. Lung function and BHR were not significantly different between the wild type (AA or TT) and the variant (AC+CC or TC+CC) genotypes in asthmatics, atopic asthmatics, and EIA (+) asthmatics, while total eosinophil counts were higher in the variant type of LTC4S than in the wild type in atopic asthmatics. There were no associations between the gene-gene interactions of LTC4S and CysLTR1 genotypes and the asthma phenotypes. Conclusion : LTC4S A(-444)C and CysLTR1 T(+927)C polymorphisms and their gene-gene interactions are not associated with asthma phenotype, lung function, or BHR in Korean children.

A STUDY ON THE COLORS OF THE ANTERIOR PRIMARY RESIN TEETH (유치레진치의 전치부 색조연구)

  • Hyun, Hong-Keun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.34 no.4
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    • pp.639-645
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    • 2007
  • Removable or fixed space maintainer could be needed if one or some anterior primary teeth were missing, where resin pontics well-matched to natural primary teeth should be demanded to get an esthetic satisfaction. Resin Natural $Teeth^{TM}$(Nissin dental, Japan) is available currently in Korea, which consists of two shades of colors; type A1 and A2. The purpose of this study is to elucidate the colors of the anterior primary resin teeth and to establish the data to compare those with the natural anterior primary teeth. CIE $L^*a^*b^*s$ were measured each three times labially from 17 sets of maxillary four anterior teeth for type A1 and A2 Resin Natural $Teeth^{TM}$ using ShadeEye $NCC^{TM}$(Shofu, Japan) which is one of spectrophotometers. The data were analysed statistically using Kruskall-Wallis Test and Mann-Whitney U Test. The results were as follows : 1. There were smaller teeth color differences in group A1 than in group A2 when it comes to distributions of ${\Delta}E$, $L^*$ and $b^*$. There were no statistically significant differences of $a^*$ between teeth in the same group(P>0.05). 2. ${\Delta}E$ in group A1 and A2 (maximum ${\Delta}E{\le}1.23$) were very small, which could not be discerned by eyesight. ${\Delta}E$ between mean CIE $L^*a^*b^*s$ of group A1 and A2 was 3.97, which could be discernible by eyesight. 3. Mean measurements of group A1 were $L^*=73.8$, $a^*=-1.8$, $b^*=-4.7$, and those of group A2 were $L^*=75.8$, $a^*=-2.7$, $b^*=-1.4$. It would be recommended that resin teeth compatible to the colors of the natural primary ones needed to be developed by investigating in vivo study.

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The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease (가와사키병의 관상동맥 이상과 catechol-O-methyltransferase 유전자의 단일염기다형성)

  • Lee, Hyo Jin;Lee, Myung Sook;Kim, Ji Sook;Kim, Eun Ryoung;Kang, Sung Wook;Kim, Soo Kang;Chung, Joo Ho;Yoon, Kyung Lim;Han, Mi Young;Cha, Seong Ho
    • Clinical and Experimental Pediatrics
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    • v.52 no.1
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    • pp.87-92
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    • 2009
  • Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

Clinical and Phylogenetic Characteristics of Escherichia coli Urinary Tract Infections (대장균에 의한 요로감염의 연령별, 계통군별 특징)

  • Lee, Ji Eun;Lee, Youn Hee;Nam, Chan Hee;Kwak, Ga Young;Lee, Soo Young;Kim, Jong Hyun;Hur, Jae Kyun;Kang, Jin Han
    • Pediatric Infection and Vaccine
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    • v.17 no.1
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    • pp.16-22
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    • 2010
  • Purpose : We aimed to investigate the clinical and phylogenetic characteristics of Escherichia coli Urinary Tract Infections (E. coli UTI). Methods : We enrolled patients with culture-proven E. coli UTI, who were admitted at the study hospital from September 2008 to August 2009. We investigated clinical data of patients with E. coli UTI and characteristics of isolated E. coli strains. The phylogenetic groups were classified using triplex polymerase chain reaction (PCR), and the distribution of nine virulent genes was determined by multiplex PCR. Results : A total of 47 patients have participated in this study. Thirty (63.8%) were under 6 months; eight (17.0%) were between 6-12 months; and nine (19.1%) were over 12 months. We compared two age groups between under 6-month and over 6-month. In the age group under 6-month, higher proportion of male (P =0.002) and group B2 strains (P =0.020) were observed. In contrast, higher proportion of female and group non-B2 strains were observed in age group over 6-month. Frequencies of papC, papGII, papGIII, sfa/foc, hlyC, cnf1, fyuA, iroN and iucC were estimated as 68.1%, 57.4%, 42.6%, 46.8%, 46.8%, 31.9%, 87.2%, 48.9% and 63.8%, respectively. In the comparison of phylogenetic groups, group B2 showed higher distribution of virulent genes, while group D included more strains resistant to trimethoprim/sulfamethoxazole (TMP/SMZ) than other groups. Conclusion : We showed the age group-specific difference in the distribution of sex ratios and phylogenetic groups; more male and group B2 strains in age group under 6-month, while more female and group non-B2 in age group over 6-month. However, further evaluation including larger number of patients will be necessary to confirm above thesis in future molecular epidemiological studies.

Analysis of Research on Non-Timber Forest Plants - Based on the Articles Published in the Journal of Korean Forest Society from 1962 to 2013 - (산림과학분야의 산림특용자원식물의 연구 - 한국임학회지에 게재된 논문을 중심으로 -)

  • Lee, Hyunseok;Yi, Jaeseon;An, Chanhoon;Lee, Jeonghoon
    • Journal of Korean Society of Forest Science
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    • v.104 no.3
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    • pp.337-351
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    • 2015
  • The articles, published in the Journal of Korean Forest Society from Volume 1 (1962) to Volume 102 (2013), were investigated for the research trend analysis about forest plants for special purposes, i.e., edible plants, medicinal plants, feed resources, landscape plants, fiber plants, industrial usage, bee plants, bioenergy/phytoremediation uses, dye materials, and rare/endangered/endemic plants. These research articles were classified again based on the contents of research into following categories - habitat environment, ecology, physiology, propagation, silviculture (including planting and tending), genetics and breeding, identification, pest and disease control, animal-related research, components analysis and extracts, vegetation survey, biotechnology, management, recreation and forest healing, and research review. Among the total 2,433 articles published, 611 (25.1%) were related to plants for special usage or purposes. The highest frequency (14.9%) in publications was found in the field of silviculture followed by physiology, propagation, identification, and genetics and breeding, respectively. On the bases of usage, edible plants showed higher frequency (26.5%) than others, followed by industrial purpose, bioenergy/phytoremediation usage, landscape plants, medicinal plants, and rare/endangered/endemic plants. Populus plant species was the most popular in research, showing 62 articles; and Castanea crenata 36; Pinus koraiensis 35; Robinia pseudoacacia 20; Ginko biloba 17, etc. Based on the survey and analysis, the following points are suggested: 1) improved evaluation of forest plants as non-wood resources, 2) expanding research topics on the basis of production, management, and utilization of non-wood forest resources, 3) management of database of forest plant information and encouragement needed to strengthen cooperative researches satisfying the needs of other industrial and scientific areas, and 4) encouraging to promote traditional knowledge based research on forest plants.