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조재위,Hajime Nakano,이규석 대한의학회 2009 Journal of Korean medical science Vol.24 No.2
Dystrophic epidermolysis bullosa (DEB) are caused by mutations in the COL7A1 gene, which encodes type VII collagen. Even though more than 500 different COL7A1 mutations have been identified in DEB, it still remains to be under-investigated. To investigate the mutation of COL7A1 in moderately severe phenotype of recessive DEB (RDEB) in a Korean patient, the mutation detection strategy was consisted of polymerase chain reaction (PCR) amplification of genomic DNA, followed by heteroduplex analysis, nucleotide sequencing of the PCR products demonstrating altered mobility. In this study, we found that one mutation (c.8569G>T) was detected within exon 116. The mutation of c.8569G>T in exon 116 changed the GAG (Glu) to TAG, eventually resulted in premature termination of type VII collagen polypeptide. Furthermore the mother did not have the mutation c.8569G>T in exon 116. The other novel mutation (c.4879G>A) was detected within exon 51 of both patient and mother, thereby resulting in changing valine (Val) to isoleucine (Ile) in type VII collagen polypeptide. Taken together, in this study we identified compound heterozygosity for COL7A1 mutations (c.8569G>T and c.4879G> A) in moderately severe RDEB in a Korean patient. We hope that this data contribute to the expanding database on COL7A1 mutations in DEB.
Mizuki, Daisuke,Mizuki, Mayuko,Nakano, Hajime,Hanada, Katsumi Korean Society of Photoscience 2002 Journal of Photosciences Vol.9 No.2
Photodynamic therapy using topical 5-ALA has been used for non-melanoma skin cancers. Recently, the therapeutic method using incoherent light brought beneficial result in the treatment for mycosis fungoides. We used ALA-PDT for two Japanese patients suffering from lymphadenosis benigna cutis. In both cases, lesions were markedly faded and histologically, the number of infiltrated cells also decreased. We suggest that ALA-PDT can be used as an effective and safe modality in the treatment of benign cutaneous lymphoma.
( Jae We Cho ),( Han Won Ryu ),( Sung Ae Kim ),( Hajime Nakano ),( Kyu Suk Lee ) 대한피부과학회 2014 Annals of Dermatology Vol.26 No.6
Epidermolysis bullosa simplex (EBS), an inherited genetic disorder, is most often caused by a dominant-negative mutation in either the keratin 5 (KRT5) or the keratin 14 (KRT14) gene. These keratin mutants result in a weakened cytoskeleton and cause extensive cytolysis. It is important to analyze the KRT5 or KRT14 genes of the patient and their family members by mutational analysis in order to identify genetic defects as well as the need for genetic counseling. In this study, we present a 5-year-old Korean boy who had been developing blisters and erosions on the palms of his hands and soles of his feet since infancy. In addition, while his younger sister and father showed similar clinical manifestation, his mother did not. The patient was diagnosed with EBS based on clinical manifestation, which is characterized by the presence of blisters restricted to the palms and soles, histological findings, and mutational analysis. Mutational analysis of the patient’s DNA revealed a thymine-to-cytosine transition at codon 608 in the KRT-5 gene, resulting in a leucine-to-proline substitution in the keratin 5 protein. The same mutation was identified in the paternal, but not maternal, DNA. Here, we report a case of Weber-Cockayne type EBS with vesicles and bullae restricted to the palms and soles with a novel, paternally inherited mutation in KRT5 gene (exon2, c.608T>C). (Ann Dermatol 26(6) 739∼742,2014)
Keiji Yagisawa,Taku Kobayashi,Ryo Ozaki,Shinji Okabayashi,Takahiko Toyonaga,Miki Miura,Mari Hayashida,Eiko Saito,Masaru Nakano,Hajime Matsubara,Tadakazu Hisamatsu,Toshifumi Hibi 대한장연구학회 2019 Intestinal Research Vol.17 No.1
Background/Aims: Oral mesalazine is an important treatment for ulcerative colitis (UC), and non-adherence to mesalazineincreases the risk of relapse. Controlled-release (CR) mesalazine has 2 formulations: tablets and granules. The relative acceptabilitiesof these formulations may influence patient adherence; however, they have not been compared to date. This studyaimed to evaluate the acceptabilities of the 2 formulations of CR mesalazine in relation to patient adherence using a crossoverquestionnaire survey. Methods: UC patients were randomly assigned to 2 groups in a 1:1 ratio. Patients in each group tookeither 4 g of CR mesalazine tablets or granules for 6 to 9 weeks, and then switched to 4 g of the other formulation for a further 6to 9 weeks. The acceptability and efficacy were evaluated by questionnaires, and adherence was assessed using a visual analogscale. The difference in acceptabilities between the 2 formulations and its impact on adherence were assessed. Results: A totalof 49 patients were prospectively enrolled and 33 patients were included in the analysis. Significantly more patients found thetablets to be less acceptable than the granules (76% vs. 33%, P=0.0005). The granules were preferable to the tablets when the 2formulations were compared directly (73% vs. 21%, P=0.004), for their portability, size, and numbers of pills. The adherence ratewas slightly better among patients taking the granules (94% vs. 91%) during the observation period, but the difference was notsignificant (P=0.139). Conclusion: CR mesalazine granules are more acceptable than tablets, and may therefore be a better optionfor long-term medication. (Intest Res 2019;17:87-93)