• Title/Summary/Keyword: dsDNA

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First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

  • Kim, Kang-in;Lee, Hanbyul;Jung, So Yoon;Lee, Dong Hwan;Lee, Jeongho
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.92-96
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    • 2018
  • Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

A Case of Systemic Lupus Erythematosus Presenting as Cervical Lymphadenopathy (경부 림프병증으로 발현된 전신홍반루푸스 1예)

  • Hyun Seok, Kang;Jae Seon, Park;Tae Hwan, Kim;Sang Hyuk, Lee
    • Korean Journal of Head & Neck Oncology
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    • v.38 no.2
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    • pp.23-27
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    • 2022
  • Systemic lupus erythematosus(SLE) is a multisystemic disorder of autoimmune etiology. SLE can occur commonly in young women, and the early symptoms include fever, myalgia, arthralgia, weight loss, lymphadenopathy and these nonspecific symptoms develop into skin rash, splenomegaly, serositis and encephalopathy. Diagnosis of SLE requires clinical and serologic criteria, and treatment choices are hydroxyquinolone and NSAIDs for mild disease, corticosteroids and immunosuppressant for severe disease. In lupus patient, the prevalence of lymphadenopathy is 12~59%. Although lymphadenopathy is common finding in SLE, it is hard to distinguish in early phase of SLE. A 38-year-old woman visited our hospital for cervical lymphadenopathy with polyarthritis and malaise. Multiple cervical lymph nodes enlargement was found on Neck CT, and serologic laboratory test including ANA, antiphospholipid antibody, and anti-dsDNA was positive. For excluding lymphoma, PET-CT and excisional biopsy were performed. The patient finally diagnosed with SLE, and got regular follow-up without complication.

Serological and molecular prevalence of lumpy skin disease virus in Korean water deer, native and dairy cattle in Korea

  • Ko, Young-Seung;Oh, Yeonsu;Lee, Taek Geun;Bae, Da-Yun;Tark, Dongseob;Cho, Ho-Seong
    • Korean Journal of Veterinary Service
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    • v.45 no.2
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    • pp.133-137
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    • 2022
  • Lumpy skin disease (LSD) is a severe cross-border infectious disease that causes fever, skin and visceral nodules in cattle. LSD is caused by the lumpy skin disease virus (LSDV), a dsDNA virus that belongs to the genus Capripoxvirus. Although LSD has been found only in Southern Africa traditionally, in the last decade it is spreading very quickly through the Middle East and into Eastern Europe and China. It usually affects cattle and water buffalos being transmitted by blood-feeding insects. As it causes a huge economic impact, LSD is a notifiable disease by World Organisation for Animal Health, and managed as the legal infectious disease class I in Korea. Therefore, the purpose of this study was to confirm the existence of LSDV antigens or antibodies in Korean livestock. We collected 1,200 blood samples from cattle (Korean native and dairy cattle) and Korean water deer in 4 major provinces of the country, then tested the existence of LSDV antigen and antibody. None (0.0%) of the 1,200 blood samples were positive for both antigen and antibody of LSDV. To the best of our knowledge, this is the first study that examines the prevalence of LSDV in Korea. Our study aims to report the LSDV occurrence situation obtained by surveillance in Korea and provide information that may help prevention of LSD epidemics.

A clinical study of systemic lupus erythematosus in children (소아에서 전신성 낭창의 임상적 고찰)

  • Kim, Ji Tae;Nam, Young Mee;Lee, Jae Seung;Kim, Dong Soo
    • Clinical and Experimental Pediatrics
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    • v.50 no.1
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    • pp.74-78
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    • 2007
  • Purpose : Systemic lupus erythematosus (SLE) is a chronic multisystemic autoimmune disease with complex clinical manifestations. It probably involves genetic, environmental and immunologic factors. In this study, we investigated the clinical manifestations, laboratory findings and prognosis of pediatric SLE to aid clinical care of pediatric SLE. Methods : The data of 45 patients who were diagnosed as pediatric SLE in Severance Children's Hospital from Jan. 1996 to Dec. 2005 were analysed retrospectively. Results : The mean age at diagnosis was 10.8 (0-15) years old. And the ratio of male to female patients was 1:4. The initial manifestations were facial edema (51.1 percent), malar rash (44.4 percent), and fever (28.9 percent). The ANA (97.8 percent), anti-ds DNA antibody (82.2 percent), lupus nephritis (71.1 percent), malar rash (71.1 percent), and cytopenia (66.7 percent) were the most common findings among the classification criteria by ACR (American College of Rhematology, 1997). Conclusion : Clinical manifestations and prognosis are various in pediatric SLE. Intensive studies of SLE in children should be continued for more effective treatment.

The 50-year history of the Korean Society of Plant Taxonomists: Professional manpower training and research activity (한국식물분류학회 50년사: 인력양성과 연구활동)

  • LEE, Nam Sook
    • Korean Journal of Plant Taxonomy
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    • v.48 no.4
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    • pp.363-369
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    • 2018
  • Since the establishment of the Korean Society of Plant Taxonomists (KSPT) on Dec. 13, 1968, the professional manpower training and research activities have been analyzed. The survey method was based on the homepage of the KSPT and the Korean J. Pl. Taxon, and on data provided by each university about professional manpower. Over the past 50 years, a total of 680 specialists in plant taxonomy have been trained, consisting of 537 master's degree holders (274 males, 263 females) from 30 universities and 143 PhDs (97 males, 46 females) from 26 universities, and the number has increased significantly since 1998. With regard to changes in the field of research over the last ten years, revision papers were the most common in the period of 1988-1997 (72%), but this rate has decreased to 51% over the last ten years, while the number of unrecorded papers has increased to 28%. In the 629 revision papers on taxa, 49% of the taxa belong to Asteraceae, Ranunculaceae, Cyperaceae, Liliaceae, Rosaceae, Fabaceae, Apiaceae, Lamiaceae, Orchidaceae, Oleaceae, Euphorbiaceae, Polygonaceae, and Amaryllidaceae. With regard to changes in research methods, the number of morphological papers increased from 6% to 51%, while pollen papers have decreased from a rate of 20% to only 2%. Chromosome studies account for 3-4%, chemotaxonomic studies 2%, and DNA studies remain low at 3-16%. The percentage of papers in English now stands at 43%, mainly due to the increased number of papers on unrecorded species.

Distribution of Disease Severity and Group A Rotavirus Genotypes (VP7 & VP4) in Children with Acute Rotavirus Gastroenteritis (급성 로타바이러스 장염 소아에서 질환의 중증도와 로타바이러스 VP7 & VP4 유전형의 분포에 대한 연구)

  • Oh, Hyun-Ju;Kang, Hyun-Sik;Kang, Ki-Soo;Kim, Youn-Woo;Hong, Jung-Yun;Shin, Kyung-Sue;Lee, Jin-Sook;Lee, Su-Hyun;Lee, Keun-Hwa;Cho, Moon-Je;Suh, Dong-In
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.14 no.2
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    • pp.148-154
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    • 2011
  • Purpose: We aimed to study the distribution of rotavirus genotypes (VP7 and VP4) and disease severity of rotavirus gastroenteritis prevalent in our community. Methods: Stool samples were collected from 156 children who were hospitalized with rotavirus gastroenteritis from December 2007 to June 2008. The disease severity of all patients was scored using the Vesikari scale. After extraction of ds-RNA of the rotavirus, cDNA synthesis using reverse transcription and polymerase chain reaction (RT-PCR) and multiplex PCR was performed. Following this, the final identification of genotypes was performed. Results: Of the 156 samples, VP7(G) and VP4(P) genotypes were identified in 147 (94.2%) and 140 (89.7%) samples, respectively. G1 (116 of 147 samples; 78.9%) and P[8] (137 of 140 samples; 97.9%) were the most prevalent, respectively. Of the 138 samples identified of combination types of VP7 and VP4, G1P[8] (111 samples; 80.4%) was the most prevalent. Other combination types varied with very low distribution rates. 9.4% of genotypes were not included in the new vaccines. The disease severity score was $11.8{\pm}3.3$ ($mean{\pm}2SD$). The distribution of disease severity was mild or moderate in 37.8% and severe in 62.2% of patients. Conclusion: The most prevalent genotype combination of rotavirus was G1P[8] and genotypes not included in the vaccines represented 9.4% in our community. Disease severity distribution of hospitalized children with rotavirus gastroenteritis was higher in the severe than in the mild and moderate categories.

Performance Characteristics of Agitated Bed Manure Composting and Ammonia Removal from Composting Using Sawdust Biofiltration System (교반식 축분 퇴비화 및 톱밥 탈취처리 시스템의 퇴비화 암모니아 제거 성능)

  • Hong, J.H.;Park, K.J.
    • Journal of Animal Environmental Science
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    • v.13 no.1
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    • pp.13-20
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    • 2007
  • Sawdust biofiltration is an emerging bio-technology for control of ammonia emissions including compost odors from composting of biological wastes. Although sawdust is widely used as a medium for bulking agent in composting system and for microbial attachment in biofiltration systems, the performance of agitated bed composting and sawdust biofiltration are not well established. A pilot-scale composting of hog manure amended with sawdust and sawdust biofiltration systems for practical operation were investigated using aerated and agitated rectangular reactor with compost turner and sawdust biofilter operated under controlled conditions, each with a working capacity of approximately $40m^3\;and\;4.5m^3$ respectively. These were used to investigate the effect of compost temperature, seed germination rate and the C/N ratio of the compost on ammonia emissions, compost maturity and sawdust biofiltration performance. Temperature profiles showed that the material in three runs had been reached to temperature of 55 to $65^{\circ}C$ and above. The ammonia concentration in the exhaust gas of the sawdust biofilter media was below the maximum average value as 45 ppm. Seed germination rate levels of final compost was maintained from 70 to 93% and EC values of the finished compost varied between 2.8 and 4.8 ds/m, providing adequate conditions for plant growth.

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Effect of the Centrifugation Temperature on Cortisol, $25OHD_3$ Values After Extraction (Cortisol, $25OHD_3$ 추출 후 원심 분리시 온도가 검사결과에 미치는 영향)

  • Kim, Whe-Jung;Cheon, Jun-Hong;Yoo, Seon-Hee;Cho, Shee-Man
    • The Korean Journal of Nuclear Medicine Technology
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    • v.13 no.3
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    • pp.143-146
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    • 2009
  • Purpose: We use the centrifugation of refrigeration state in separation of blood serum, Anti-ds-DNA, Vitamin $B_{12}$/Folate and GAD-Ab assay. However, Cortisol urine and 25-Hydroxyvitamin $D_3$ ($25OHD_3$) are conducted centrifuge at room temperature. This is troublesome that change centrifugation temperature into room temperature due to using of most assays at cold temperature. Therefore when using centrifuge after extraction of Cortisol urine and $25OHD_3$, we conducted researches on effect of the centrifugation temperature in assay results. Materials and Methods: In Cortisol urine, add dichloromethane 1.0 mL in urine $500\;{\mu}L$, mix for 15 minutes, and then centrifuge for 8 minutes at 2600rpm. In $25OHD_3$ add acetonitrile 0.5 mL in serum $200\;{\mu}L$, and then centrifuge for 8 minutes at 2600rpm. Those experiments were conducted centrifuge at room temperature and $4^{\circ}C$. And experiments conducted immediately after centrifugation at $4^{\circ}C$ and standing for 20 minutes after centrifugation $4^{\circ}C$. Results: In Cortisol urine, room temperature result in 1.93, 2.18, 2.43, 9.45, 14.2 (${\mu}g/dL$). Experiments of performing immediately after centrifuge at $4^{\circ}C$ result in 1.8, 2.0, 2.3, 8.1, 13.7 (${\mu}g/dL$). Experiments of performing after 20 minutes result in 2.1, 2.1, 2.7, 9.95, 14.35 (${\mu}g/dL$). On the other hand, the $25OHD_3$ tests conducted at room temperature result in 7.13, 26.6, 35.8, 48.2, 74.8 (ng/dL). Experiments were conducted immediately by pipetting after $4^{\circ}C$ centrifugation result in 7.53, 30.9, 40.3, 61.5, 89.1 (ng/dL) as results are higher than experiments at room temperature. The experiments that conducted centrifuge at $4^{\circ}C$ and then left at room temperature for 20 minutes result in 7.40, 32.4, 41.3, 51.6, 85.6 (ng/dL). Conclusions: Experiments were conducted by using centrifuge at $4^{\circ}C$ are higher or lower than room temperature. The differences between results of standing for 20 minutes after centrifuge at $4^{\circ}C$ and those of centrifuge at room temperature are less than conducting immediately. It is concerned that experiments conducted immediately after centrifuge at $4^{\circ}C$ are incorrect, because tubes become dim due to temperature differences between $4^{\circ}C$ and room temperature. Therefore, it is desirable to centrifuge at room temperature as manual and we should pipet promptly without stopping.

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Characterization and Partial Nucleotide Sequence Analysis of Alfalfa Mosaic Alfamoviruses Isolated from Potato and Azuki Bean in Korea

  • Jung, Hyo-Won;Jung, Hye-Jin;Yun, Wan-Soo;Kim, Hye-Ja;Hahm, Young-Il;Kim, Kook-Hyung;Choi, Jang-Kyung
    • The Plant Pathology Journal
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    • v.16 no.5
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    • pp.269-279
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    • 2000
  • Alfalfa mosaic alfamoviruses(AIMV) were isolated from infected potato (Solanum tuberosum) and azuki bean (Paseolus angularis) in Korea. Two AIMV isolated from potatoes were named as strain KR (AIMV-KR1 and KR2) and AIMV isolated from azuki bean was named as strain Az (AIMV-Az). Each isolated AIMV strain was characterized by using their host ranges, symptom developments, serological relations and nucleotide sequence analysis of coat protein (CP) gene. Strains KR1, KR2, and Az were readily transmitted to 20 of 22 inoculated plant species including bean, cowpea, tomato, tobacco, and potato. AIMV-KR1 and KR2 produced the typical symptoms like chlorotic or necrotic spots in Chenopodium quinoa and Solanum tuberosum cv. Superior. AIMV-Az caused bright yellow mosaic symptom and leaf malformation in Nicotiana glauca, which were different from the common mosaic symptom caused by AIMV-KR1 and KR2. Electron microscope observation of purified virus showed bacilliform virions containing a single-stranded plus-strand RNAs of 3.6, 2.6, 2.0 and 0.9 kbp in length, respectively, similar in size and appearance to those of Alfamovirus. In SDS-PAGE, the coat protein of the two viruses formed a consistent band that estimated to be about 24kDa. The CP genes of the AIMV strains, KR1, KR2, and Az have been amplified by RT-PCR using the specific primers designed to amplify CP gene from viral RNA-3, cloned and sequenced. Computer aided analysis of the amplified cDNA fragment sequence revealed the presence of a single open reading frame capable of encoding 221 amino acids. The nucleotide and peptide sequence of viral CP gene showed that strain KR1, KR2, and Az shared highest nucleotide sequence identities with AIMV strain 425-M at 97.7%, 98.2%, and 97.2%, respectively. CP gene sequences of two strains were almost identical compared with each other. Altogether, physical, serological, biological and molecular properties of the purified virus.

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Osteonectin Interacts with Human Nebulin C-terminus in Skeletal Muscle

  • Park, Eun-Ran;Kim, Hyun-Suk;Choi, Jun-Hyuk;Lee, Yeong-Mi;Choi, Jae-Kyoung;Joo, Young-Mi;Ahn, Seung-Ju;Min, Byung-In;Kim, Chong-Rak
    • Biomedical Science Letters
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    • v.13 no.4
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    • pp.263-272
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    • 2007
  • Nebulin is a giant actin binding protein (600-900 kDa) which is specific to skeletal muscle. This protein is known to regulate thin filaments length in sarcomere as a molecular template. The C-terminus of nebulin is located in the Z-disc of muscle sarcomere and is bound to other proteins such like myopalladin, titin, archvillin, and desmin. The N-terminus of nebulin binds to tropomodulin at the pointed ends of the thin filaments. In recent research, nebulin not only found in brain but also expressed in heart, stomach, and liver. So, the roles of nebulin in non-muscle tissue have been studied. However, lack of information or studies on nebulin binding proteins and nebulin function in brain are available so far. Therefore, the current study have investigated a novel binding partner of Nebulin C-terminus by using yeast two-hybrid screening with human brain cDNA library. Nebulin C-terminus, containing simple repeats, serine rich and SH3 domain, interacts with osteonectin C-terminal region. The specific interaction of nebulin and osteonectin were confirmed in vitro by using GST pull-down assay and reconfirmed in vivo by using transfected COS-7 cells with EGFP-tagged nebulin and DsRed-tagged osteonectin. Consequently, this study identified SH3 domain in nebulin C-terminus specifically binds to extracellular Ca-binding (EeC domain in osteonectin. Also, nebulin C-terminus fusion protein colocalized with osteonectin EC domain fusion protein in transfected COS-7 cells. The current study found the interaction between nebulin and osteonectin in human brain for the first time and suggested the nebulin in brain may be associated with osteonectin, as a regulator of cell cycle progression and mitosis.

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