• Title/Summary/Keyword: Molecular Characteristics

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Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method (분자 유전학적 방법으로 진단된 선천성 근육긴장성 이영양증 환자의 임상 양상)

  • Nam, Sook Hyun;Son, Young Bae;Lee, Bo Lyun;Lee, Jeehun;Ki, Chang-seok;Lee, Munhyang
    • Clinical and Experimental Pediatrics
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    • v.50 no.9
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    • pp.868-874
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    • 2007
  • Purpose : We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity.Methods : A retrospective review of the medical records and the results of the dystrophia myotonica protein kinase (DMPK) gene test was done for the patients who were confirmed as CDM through gene analysis from January 2001 to September 2006. Results : All of the eight patients (male 2, female 6) showed moderate to severe degree of perinatal distress and feeding difficulty associated with profound hypotonia. Three patients had the history of polyhydramnios and two patients had equinovarus deformity. The developmental milestones were delayed in all patients, which improved gradually with age. All of their mothers demonstrated myotonic symptoms and typical myopathic face. The number of CTG repeats in DMPK gene analysis ranged 1,000-2,083, and there was no significant correlation between the number of CTG repeats and the time of walking alone. Conclusion : All patients with CDM presented with severe hypotonia in perinatal period, and developmental delay thereafter, which were improved with age. All of their mothers manifested myotonic symptoms with typical myopathic face, and the identification of such features greatly contributed to the diagnosis of the patients. The number of CTG repeats had no significant influence on the motor development.

Serological Analysis and Epidemiologic Characteristics of Group A Streptococci in Seoul(1998-2000) (3년간(1998-2000년) A군 연구균 감염의 혈청학적 형분류와 역학적 특징)

  • Choi, Sun-Hee;Kim, Yun-Ho;Cha, Sung-Ho;Kim, Ki-Sang;Lee, Young-Hee
    • Clinical and Experimental Pediatrics
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    • v.45 no.11
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    • pp.1368-1372
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    • 2002
  • Purpose : Group A streptococci have a cell wall which consists of M protein and T protein. T protein is known to be helpful in the understanding of the epidemiology of group A streptococci. To study the epidemiologic characteristics, we serotyped T protein of group A streptococci obtained from patients admitted to hospitals, or who visited OPD in five districts of Seoul the during last three years. Methods : Group A streptococci were obtained in five districts in north, northeast, central, northwest and south Seoul from 1998 through 2000. All isolated group A streptococci were serotyped with T protein antisera(Institute of Sera and Vaccine, Prague, Czech Republic). Results : In 1998, analysis of obtained total number of 92 strains revealed that T12, T4, and NT acounted for 72.2%. Among seven cases of scarlet fever, T12 was isolated in four cases and T4 was found in three cases. Two cases of tonsilar abscess produced T8 and NT. One case of cervical lymphadenitis showed T12. In 1999, 41 cases were studied showing that T12, T4, and T1 contributed 68%. Among five cases of scarlet fever, T12 and T4 make up three case. There were two cases of pneumonia(T4 and T1) and one case of cervical lymphadenitis(T8/25). In 2000, the study was performed in four districts except the central area. Among 83 isolates, T12, T4 and T1 accounted for 63.9%. There were three cases of scarlet fever(T12, T4, T5), one case of tonsillar abscess(T12), one case of pneumonia(NT) and one case of sepsis(T1). Conclusion : Serological analysis of T protein of group A streptococci shows no endemic specificity. The yearly pattern reveals that T12 had been decreasing but T1 had shown the opposite trend.

Construction of cDNA Library and EST Analysis Related to Seed-hair Characteristics in Carrot (당근 종모 형질 관련 cDNA Library 작성 및 EST 분석)

  • Oh, Gyu-Dong;Shim, Eun-Jo;Jun, Sang-Jin;Park, Young-Doo
    • Horticultural Science & Technology
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    • v.31 no.6
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    • pp.782-789
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    • 2013
  • Carrot (Daucus carota L. var. sativa) is one of the most widely used crops in the world and is nutritionally important crop. However, seed-hair which is generated in epidermal cell of seeds causes the difficulty of the seedling process, because of the seed germination and absorption inhibitions. For these reasons, carrot seeds are commercialized after mechanical hair removal process. However, in this process, various damage and seed loss occur and breeding of hairless-seed carrot cultivar is needed to overcome these various weaknesses and additional seed production costs. In this study, cDNA libraries using 2 combinations, which were composed of short-hair seed CT-ATR 615 OP 666-13 & long-hair seed CT-ATR 615 OP 671-9, and short-hair seed CT-SMR 616 OP 659-1 & long-hair seed CT-SMR 616 OP 677-14, were constructed and EST sequences of each individuals were analyzed to reveal carrot seed-hair characteristics. Firstly, analyzed EST sequences were classified into FunCat functional categories. As a result, significant differences have been identified in metabolism category, protein folding and stabilization, protein binding, C-compound binding category from both of two combinations. Secondly, several candidate EST sequences related to seed trichome differentiation and cellulose biosynthetic process were selected based on GO data of EST sequences. These differences based on FunCat categories and candidate EST obtained by GO data analysis are thought to be involved in the formation of carrot seed hair. Finally, 741 SSR sites and 33 SNP sites were identified from analyzed EST sequences of two combinations. Then we designed SNP and SSR primer sets to develop molecular markers. These molecular markers will be used for classification of carrot cultivars and study seed-hair characteristic.

The effect of air quality and humidity on aged characteristics of beeswax-treated paper during artificial aging (인공열화 시 공기질 및 습도가 밀랍지의 열화에 미치는 영향)

  • Yang, Eun Jeong;Choi, Kyoung Hwa;Kang, Yeong Seok;Cho, Jung hye;Jeong, Hye Young
    • 보존과학연구
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    • s.33
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    • pp.45-55
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    • 2012
  • A beeswax-treated paper has no air permeability but has the water repellency compared with a general Hanji. Because of these properties, the differences of the aging factors and mechanisms between the outer partition of beeswax-treated paper that is affected by the surrounding conservation environment and the inner partition of it that is not affected are bigger than general books. In this research, we analyzed and compared the aging characteristics through the accelerated aging of the beeswax-treated paper by some air and humidity conditions. The results of the physical and optical analysis after the artificial aging, it was shown that the oxygen accelerates the aging of the beeswax-treated paper and the condition with the humidity 50% RH is more stable than the condition with the humidity 0% RH. The results of the CG/MS analysis that was conducted to figure out the decomposition charateristics of the beeswax according to the air quality and the humidity, a low molecular weight compound that the number of carbon is C9-C20 including a fatty acid such as a palmitic acid was increased as the aging was progressed. However, under the same environment, a compound that the number of carbon is C21-C36 including a hydrocarbon and a aliphatic alcohol and a high molecular weight compound that the number of carbon is more than C34 including a wax ester were decreased. A rate of change according to the air quality and the humidity was similar to the beeswax-treated papers.

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Distribution Patterns and Ecological Characters of Paulownia coreana and P. tomentosa in Busan Metropolitan City Using MaxEnt Model (MaxEnt 모형을 활용한 부산광역시 내 오동나무 및 참오동나무의 분포 경향과 생태적 특성)

  • Lee, Chang-Woo;Lee, Cheol-Ho;Choi, Byoung-Ki
    • Journal of the Korean Institute of Traditional Landscape Architecture
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    • v.35 no.2
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    • pp.87-97
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    • 2017
  • Paulownia species has long been recognized in Korean traditional culture and the values of the species have been researched in various focuses. However, studies on distribution and ecological characteristics of the species are still needed. This study aimed to identify distribution trends and ecological characteristics of two Paulownia species in Busan metropolitan city using the MaxEnt model. The MaxEnt model was established based on the environmental factors such as positioning information of the Paulownia species, topography, climate and degree of anthropogenic disturbance potentiality (ADP), which was collected in the on-site research. The study verified that the accuracy of the model was appropriate as the AUC value of Paulownia coreana and P. tomentosa was 0.809, respectively. In terms of the distribution trends of the two Paulownia species in the research area depending on the distribution model, they were both mainly distributed in downtown where built-up area and bare ground were densely concentrated. The potential distribution area of the two species was identified as $137.4km^2$ for P. coreana and $135.0km^2$ for P. tomentosa. The distribution probability was high in Jung-gu, Dongrae-gu, Busanjin-gu and Yeonje-gu. As a result of the analysis on contribution of the environmental factors, it was turned out that the degree of anthropogenic disturbance potentiality (ADP) contributed to distribution of P. coreana and P. tomentosa by about 50%, and the contribution of the environmental factors had a positive correlation with the degree of ADP. The elevation had a negative correlation with both the two species, which was considered because the species must compete more with native species in natural habitats as the altitude above sea level rises. The research findings demonstrated numerically that the distribution of P.coreana and P. tomentosa depended on artificial activities, and indicated the relevance with the Korean traditional landscape. These findings are expected to provide meaningful information in using, preserving and restoring Paulownia species.

Distribution Characteristics and Management Plan of the Wisteria Habitat (No. 176 natural monument) of Beomeosa Temple in Busan (부산 범어사 등나무군락지의 등나무 분포 특성 및 관리방안)

  • Lee, Chang-Woo;Oh, Hae-Seong;Lee, Cheol-Ho;Choi, Byoung-Ki
    • Journal of the Korean Institute of Traditional Landscape Architecture
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    • v.35 no.2
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    • pp.77-86
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    • 2017
  • A study on the population ecology of gregarious Wisteria habitat was conducted in Beomeosa temple, Busan. The area has been protected since it was designated as No. 176 natural monument in 1966. Such a large habitat of native wisteria (Wisteria floribunda DC.) in Korea is very rare so that it has a very high academic value. However, there are no high-resolution researches on the distribution and ecology of wisteria in the Gregarious Wisteria Habitat of Beomeosa Temple. The study aimed to identify the distribution and characteristics of wisteria populations in the Wisteria habitat. The study identified the distribution of Wisteria, RCC, the climbing direction, the plant and flora in the research area in the Gregarious Wisteria Habitat of Beomeosa Temple in Busan and the surrounding areas based on an on-site research. As a result, the total number of the wisteria populations in the research area was confirmed to be 1,158 and the RCC of wisteria was on average 69.0 mm (${\pm}45.5$) and in maximum 365 mm. In terms of the climbing direction, the number of wisteria that climbs clockwise or counterclockwise was determined to be 40. It was identified that there are 28 taxa of the climbing plant species and the wisteria of the same kind was the most favorable. The populations were found to be dispersed adjacent to the valleys, and were found to be maintained by constant disturbance. 76.6 % of the population was found to be distributed in the valley forest, and the Carpinus tschonoskii-Pseudosasa japonica forest, Pueraria lobata community and Pinus densiflora forest were found to be relatively dispersed. The study proposed to conduct the follow-up researches to preserve the wisteria that is spreading in this research area, the wisteria with the highest RCC and regional habitat through continuous monitoring; and maintain the protection area of No. 176 natural monument; and discussed the management measures and approaches that reflect the habitat.

Study on Characteristics of Antibody from Milk Immunized with Some Helicobacter pylori Antigen (Helicobacter pylori 항원을 이용한 면역우유의 항체특성에 관한 연구)

  • Park, Chang-Ho;Ye, Eun-Ju;Kim, Soo-Jung;Bae, Man-Jong
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.34 no.5
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    • pp.619-625
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    • 2005
  • This study has been carried out to examine the characteristics of anti-H. pylori antibodies of milk produced from cows immunized with antigen of Helicobacter pylori such as peculiarity of antigen antibody, agglutination of H. pylori strain, stability of antibody against acid, alkali and heat treatments. The molecular weight of anti-H. pylori antibody measured by SDS-PAGE were turned out as about 50 kDa in the heavy chain and about 24 kDa in the light chain. Twenty protein bands were visualized in H. pylori interacting with anti-H. pylori antibody which was made in dairy cow by immunization with H. pylori. The western blotting was peformed in order to examine the antigen peculiarity of anti-H. pylori, The results were all 7 antigen substances including serum, furified serum, whey and furified whey could be confirmed and the major antigen substances were 97, 66,34 kDa of molecular weight. As a result of agglutination response anti-H. pylori antibody in whey showed 1/10 agglutination value against H. pylori. In stability test about acid and alkali of antibody, there was $100\%$ activated at the range of $pH5\~pH10$. In stability test about heat, the antibody showed stable condition at $60^{\circ}C$ for 60 minutes and comparatively stable condition at $70^{\circ}C$, but reduced activation to $40\%$ after 60 minutes. It maintained $77\%$ activation at $80^{\circ}C$ for 4 minutes and comparatively stable at $100^{\circ}C$ for 1 minute.

Molecular and Phenotypic Characteristics of Patients with Pseudohypoparathyroidism: Single Center's Experience (가성부갑상선기능저하증 환자의 분자유전학적 및 임상적 특징: 단일기관의 경험)

  • Kim, Min-ji;Yoon, Ju Young;Yoo, Sukdong;Lee, Jun;Cheon, Chong Kun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.21 no.1
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    • pp.7-14
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    • 2021
  • Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

Factors Affecting Physicians who will be Vaccinated Every Year after Receiving the COVID-19 Vaccine in Healthcare Workers (의료종사자의 COVID-19 예방 백신 접종받은 후 향후 매년 예방접종 의향에 미치는 요인)

  • Hyeun-Woo Choi;Sung-Hwa Park;Eun-Kyung Cho;Chang-hyun Han;Jong-Min Lee
    • Journal of the Korean Society of Radiology
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    • v.17 no.2
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    • pp.257-265
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    • 2023
  • The purpose of this study was to vaccinate every year according to the general characteristics of COVID-19, whether to vaccinate every year according to the vaccination experience, whether to vaccinate every year according to knowledge/attitude about vaccination, and negative responses to the vaccinate every year In order to understand the factors affecting the vaccination physician every year by identifying the factors of Statistical analysis is based on general characteristics, variables based on vaccination experience, and knowledge/attitudes related to vaccination. The doctor calculates the frequency and percentage, A square test (-test) was performed, and if the chi-square test was significant but the expected frequency was less than 5 for 25% or more, a ratio difference test was performed with Fisher's exact test. Through multiple logistic regression analysis using variables that were significant in simple analysis, a predictive model for future vaccination and the effect size of each independent variable were estimated. As statistical analysis software, SAS 9.4 (SAS Institute Inc., Cary, NC, USA) was used, and because the sample size was not large, the significance level was set at 10%, and when the p-value was less than 0.10, it was interpreted as statistically significant. In the simple logistic regression analysis, the reason why they answered that they would not be vaccinated every year was that they answered 'to prevent infection of family and hospital guests' rather than 'to prevent my infection' as the reason for the vaccination. It was 11.0 times higher and 3.67 times higher in the case of 'for the formation of collective immunity of the local community and the country'. The adverse reactions experienced after the 1st and 2nd vaccination were 8.42 times higher in those who did not experience pain at the injection site than those who did not, 4.00 times higher in those who experienced swelling or redness, and 5.69 times higher in those who experienced joint pain. There was a 5.57 times higher rate of absenteeism annually than those who did not. In addition, the more anxious they felt about vaccination, the more likely they were to not get the vaccine every year by 2.94 times.

Genetic Characterization of Antigenic Variant Infectious Bursal Disease Virus (IBDV) in Chickens in Korea

  • Jong-Yeol Park;Ki-Woong Kim;Ke Shang;Sang-Won Kim;Yu-Ri Choi;Cheng-Dong Yu;Ji-Eun Son;Gyeong-Jun Kim;Won-Bin Jeon;In-Hwan Kim;Bai Wei;Min Kang;Hyung-Kwan Jang;Se-Yeoun Cha
    • Korean Journal of Poultry Science
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    • v.50 no.4
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    • pp.231-240
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    • 2023
  • Infectious bursal disease (IBD) is an acute, highly contagious, and immunosuppressive disease in young chickens, and causes considerable economic losses to the poultry industry. More than 30 years ago, an antigenic variant IBDV (avIBDV) was reported in chicken farms in the United States. Recently, a novel avIBDV exhibited clear differences in molecular characteristics compared with previous variant strains. This study investigated the molecular characteristics of recently isolated avIBDV strains in Korea. Strains of avIBDV were confirmed by reverse transcription PCR (RT-PCR) and were propagated in 10-day-old specific-pathogen-free (SPF) embryonated chicken eggs through chorioallantoic membrane (CAM) inoculation. Multiple sequence alignment and phylogenetic analyses of hypervariable regions VP2 gene revealed that the strains originated from two different avIBDV lineages (G2a and G2d). In our results, we confirmed the co-existence and prevalence of avIBDV genogroup G2a and G2d in chicken farms. It is necessary to study the protective efficacy of current vaccines against avIBDVs.