• Title/Summary/Keyword: KoreaMed

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A Clinically Diagnosed Case of Multiple Epiphyseal Dysplasia (임상적으로 진단된 다발성 골단이형성증 1례)

  • Kim, Sun-Ja;Cho, Sung Yoon;Kim, Jinsup;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Shim, Jongsup;Kim, Ok-Hwa;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.49-54
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    • 2015

  • Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

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Acute Cerebrovascular Accident in Korea (급성뇌졸중 환자의 발생과 예후)

  • Roh, Sang-Gyun;Kim, Jee-Hee
    • Journal of the Korea Convergence Society
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    • v.3 no.4
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    • pp.23-28
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    • 2012

  • The aim of this study is to reveal the right approach and prognosis of cerebrovascular accident (CVA) by reviewing the various researches on CVAs. The reviews were done by BNBI PubMed, KMBase, RISS, and KoreaMed. Based on the articles, prevalence rate of CVA, prehospital CVA patients assessment and emergency care, and in-hospital care were analyzed. The most important scales are Cincinnati prehospital stroke scale(CPSS) and Los Angeles prehospital stroke screen(LAPSS). These two scales are the basic assessment tools for CVAs and it is necessary to perform the emergency care by way of these scales.

  • https://doi.org/10.15207/JKCS.2012.3.4.023 인용 PDF

Cloning and Purification of Envelope Proteins (VP19, VP28) and Nucleocapsid Proteins (VP15, VP35) Genes of a Shrimp White Spot Syndrome Virus Isolates in Korea

  • Seok, Seung-hyeok;Park, Jae-hak
    • Proceedings of the Korean Society of Veterinary Pathology Conference
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    • 2003.10a
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    • pp.41-41
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    • 2003

  • White spot syndrome virus (WSSV) is the causative agent of a disease that has led to severe mortalities of cultured shrimps in Korea and many other countries. Since 1993, massive mortalities due to the viral infection have also occurred in the penaeid shrimps cultured in Korea. WSSV is a large, circular, double stranded (ds) DNA virus and an enveloped, ellipsoid virus with a rod-shaped nucleocapsid with flat ends. In order to identify the characteristics of this Korean isolate of WSSV, the genes for four virion proteins, VP15, VP19, VP28 and VP35 were cloned and their sequences were compared with the available pool of WSSV gene sequences in the GenBank/EMBL databases. From these comparisons, we confirm the occurrence of WSSV in Korea and deduce that, VP15, VP28 and VP35 genes are identically conserved among the Korean isolate and geographically different foreign isolates, but VP19 amino acid sequences of the Korean WSSV isolates changed valine of the foreign isolates into aspartate. (omitted)

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Classical Swine Fever Virus: Discrimination Between Vaccine Strains and Korean Field Viruses by Real-time RT-PCR

  • Park, Suk-jun;Cho, Ho-seong;A.W.E. Effendy;Kim, Yong-hwan;Park, Nam-yong
    • Proceedings of the Korean Society of Veterinary Pathology Conference
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    • 2003.10a
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    • pp.34-34
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    • 2003

  • Classical swine fever (CSF) is a contagious disease of swine with serious economic losses in pig industry [1]. The disease is caused by CSFV which belongs to the viruses of bovine viral diarrhea (BVDV) and border disease virus (BDV) make up the Pestivirus genus within the family Flaviviridae [2]. Attenuated Korean LOM strains were used in Korea. For these reasons a practical approach for discrimination between vaccine and field strains is needed. Here, we described the deveopment of real-time RT-PCR to discriminate between vaccine strains and Korean field viruses of CSFV. (omitted)

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