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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD gene has been mapped to 4q35 and a deletion of integral copies of a 3.3-kb DNA repeat motif named D4Z4 was known to be the genetic background of the disorder. Although FSHD is the second most common muscular dystrophy in adulthood, there were few reports on the genetically confirmed patients in Korea. Recently, we experienced four Korean patients with clinical features resembling FSHD. In order to confirm the diagnosis, conventional Southern blot (SB) analysis by using double digestion with EcoRI and BlnI and hybridization with p13E-11 probe was performed in three patients and newly developed long polymerase chain reaction (PCR) method was used for one patient because genomic DNA was not enough for conventional SB for this patient. All patients were demonstrated to have shortened D4Z4 repeats that were consistent with FSHD. Therefore, we could confirm the diagnosis of FSHD in four Korean patients and appropriate genetic counseling was done for the patients and their families. It is of note that long-PCR method could be a good alternative for conventional SB when D4Z4 repeats were less than 5.
Both mechanical property and biocompatibility of silk protein has been highlighted for decades and lots of studies are trying to use it for a wide variety of applications. Recently, silk-based hydrogel has received great attention in biomedical field such as drug delivery and tissue engineering since silk protein presents a unique hydrogel forming mechanism as well as cyto-compatibility. Silk hydrogels are formed via tremendous physical and chemical techniques and their biomedical applications are extensively explored. In this review, various types and fabrication methods of silk hydrogels are presented and also the recent research trend of silk hydrogel-based applications is summarized.
Di-tyrosine photo-crosslinking of silk fibroin (SF) is recently highlighted as a biocompatible hydrogel fabrication process, because this method does not need potentially harmful chemical species. However, the resulting crosslinking density is often insufficient to obtain a mechanically stiff hydrogel unless additional oxygen is provided during the reaction. In this study, we proposed a combinational crosslinking method to form an SF hydrogel via the di-tyrosine photo-crosslinking with riboflavin (photoinitiator) and physical interaction of SF chains. In the UV light-irradiated SF solution, small particles formed and these particles promoted β-sheet formation of SF molecules, resulting in quick gelation. The di-tyrosine photo-crosslinking produced nuclei that might trigger regular assembly of SF molecules in high temperature condition. Conclusively, this process would contribute to a development of biocompatible hydrogel fabrication for biomedical uses of SF hydrogels.
Inherited metabolic diseases (IMD) comprise a large class of genetic diseases involving disorders of metabolism. The majorities are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. Because of the multiplicity of conditions, many different diagnostic tests are used for screening of IMD. Molecular genetic diagnosis is the detection of pathogenic mutations in DNA and/or RNA samples and is becoming a much more common practice in medicine today. The purpose of molecular genetic testing in IMD includes diagnostic testing, pre-symptomatic testing, carrier screening, prenatal diagnosis, preimplantation testing, and population screening. However, because of the complexity, difficulty in interpreting the result, and the ethical considerations, an understanding of technical, conceptual, and practical aspects of molecular genetic diagnosis is mandatory.
This erratum corrects an error in the nomenclature of a mutation reported in the article entitled “Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis” by In Young Yoo, Ju-Sun Song, Chang-Seok Ki, Jong-Won Kim, Hoon-Suk Cha, and Yong-Ki Min (Ann Lab Med 2017;37:540-3, DOI 10.3343/alm.2017.37.6.540). The nomenclature of this mutation should be corrected as follows: c.1560+5_1560+8del rather than c.1560+3_1560+6del. The same error in the title, abstract, and text was also made in Figure 2, and should be corrected as follows:
Silk is a textile material, as well as one of the oldest biomaterials. However, the recent progress of biomedical science and technology has led to the replacement of silk by various biomaterials based on synthetic polymers. Despite the wide variety of biomaterials available, these materials suffer certain limitations that prevent them from meeting the various demands of the medical field. Therefore, silk continues to attract considerable interest as a promising biomaterial. This paper explains the fundamentals of silk protein, and reviews the many applications of silk biomedical polymers.
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-보건복지부 공고/고시 요양급여의 적용기준 및 방법에 관한 세부사항 일부개정안 행정예고: 보건복지부 공고 제2017-19호(1/9) 고시: 보건복지부 고시 제2017-15호(1/31) -본인부담율을 달리 적용하는 항목 및 부담률의 결정 등에 관한 기준 일부 개정안 행정예고: 보건복지부 공고 제2017-46호(1/17) 고시: 보건복지부 고시 제2017-25호(2/8) -심평원 공고 차세대염기서열분석 기반 유전자 패널검사 실시기관 승인 신청에 관한 공고 심평원 공고 제2017-30호(2/10) 차세대염기서열분석 기반 유전자 패널검사 승인기관 관리에 관한 세부사항 심평원 공고 제2017-31호(2/10)
In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individualslike the mother of this casewho have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/-; father: P407S/-). (Korean J Pediatr 2008;51:546-550)
For two months between May and July 2015, a nationwide outbreak of Middle East respiratory syndrome coronavirus (MERS-CoV) occurred in Korea. On June 3, 2015, the Korean Society for Laboratory Medicine (KSLM) launched a MERS-CoV Laboratory Response Task Force (LR-TF) to facilitate clinical laboratories to set up the diagnosis of MERS-CoV infection. Based on the WHO interim recommendations, the Centers for Disease Control and Prevention of United States guidelines for MERS-CoV laboratory testing, and other available resources, the KSLM MERS-CoV LR-TF provided the first version of the laboratory practice guidelines for the molecular diagnosis of MERS-CoV to the clinical laboratories on June 12, 2015. The guidelines described here are an updated version that includes case definition, indications for testing, specimen type and protocols for specimen collection, specimen packing and transport, specimen handling and nucleic acid extraction, molecular detection of MERS-CoV, interpretation of results and reporting, and laboratory safety. The KSLM guidelines mainly focus on the molecular diagnosis of MERS-CoV, reflecting the unique situation in Korea and the state of knowledge at the time of publication.