• 대한유전성대사질환학회지
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• 제20권1호
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• pp.1-13
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• 2020

Gaucher disease (GD)는 glucocerebrosidase 유전자(GBA)의 돌연변이에 의하여 발병하는 전세계적으로 가장 유병율이 높은 리소좀 축적질환이다. GD는 신경학적인 증상의 유무에 따라 3가지 임상형으로 구분된다. 신경병증 GD인 2형과 3형의 경우는 대뇌에서 glucosylceramide (GlcCer)와 glucosylsphingosine (GlcSph)의 농도가 증가하면서 신경세포의 심각한 손실이 야기되는 특징을 보인다. 신경교종에서 유래한 H4 세포를 GD에서 증가하는 기질인 GluCer와 GlcSph를 첨가하여 배양하였을 때, 심각한 DNA손상과 더불어 세포의 사멸이 야기되는 것과 이러한 신경세포의 사멸은 GluCer 보다는 GlcSph을 처리하였을 때 더 현저하게 증가하는 것을 관찰하였다. H4 세포에 히스톤 탈아세틸화 효소(HDAC) 6의 저해제인 tubacin과 GlcSph을 함께 처리하였을 경우에는 DNA손상은 물론 GlcSph에 의하여 유도된 세포사멸과 관련된 단백질 인자들의 발현이 모두 감소되었다. 본 연구를 통해 GlcSph이 세포사멸을 통하여 신경병증 GD의 발병에 주요한 역할을 한다는 것을 알 수 있었고, HDAC6 저해제가 신경병증 GD 환자를 위한 치료제 후보물질로 제시될 수 있는 가능성을 확인하였다.

• 약학회지
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• 제51권2호
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• pp.96-102
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• 2007

Measurement of globotriaosylceramide (Gb3, ceramide trihexoside) in urine has clinical importance for monitoring after enzyme replacement therapy in Fabry disease patients. The disease is an X-linked lipid storage disorder that results from a deficiency of the enzyme ${\alpha}$-galactosidase A (${\alpha}$-Gal A). The lack of ${\alpha}$-Gal A causes an intracellular accumulation of glycosphingolipids, mainly Gb3. A simple, rapid, and highly sensitive analytical method for Gb3 in urine was developed without labor-extensive pre-treatment by electrospray ionization MS/MS (ESI-MS/MS). Only simple 5-fold dilution of urine is necessary for the extraction and isolation of Gb3 in urine. Gb3 in diluted urine was dissolved in dioxane containing C17:0 Gb3 as an internal standard. After centrifugation it was directly injected and analyzed through guard column by in combination with multiple reaction monitoring mode of ESI-MS/MS. Eight isoforms of Gb3 were completely resolved from urine matrix. C24:0 Gb3 occupied 50% of total Gb3 as a major component in urine. Linear relationship for Gb3 isoforms was found in the range of 0.005${\sim}$5.0 ${\mu}$g/ml. The limit of detection (S/N=5) was 0.005 ${\mu}$g/ml and limit of quantification was 0.05 ${\mu}$g/ml for C24:0 Gb3 with acceptable precision and accuracy. Correlation coefficient of calibration curves for 8 Gb3 isoforms ranged from 0.9598 to 0.9975. This method could be useful for rapid and sensitive 1st line Fabry disease screening, monitoring and/or diagnostic tool for Fabry disease.

• The Plant Pathology Journal
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• 제26권2호
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• pp.121-129
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• 2010

We evaluated microbial populations and aflatoxin production in unhulled and white rice from rice processing complexes of the National Agricultural Cooperative Federation in five regions in Korea and identified three predominant Aspergillus species. Fungal and bacterial populations in rice samples were significantly different between regions in 2007. Aflatoxins were also detected and varied at the levels of 2.45 - 3.43 ng per g unhulled rice grain and 1.29 - 2.09 ng per g white rice grain. Unhulled rice generally detected higher level of aflatoxins than white rice regardless of sampling regions; however, no significant differences were found in Anseong and Cheonan in 2005 and Cheonan and Gimpo in 2007. Aflatoxin production between sampling regions was not different regardless of rice type and sampling year. Although the fungal diversity was highly distinct from region to region, three Aspergillus isolates were predominant in the rice samples; thus, representative isolates AC317, AF57, and AF8 were selected and identified based on their morphological and molecular characteristics. Consequently, isolates AC317, AF57, and AF8 were identified as A. candidus, A. flavus, and A. fumigatus, respectively. These fungi can produce mycotoxins that are harmful for consumers and thus it is important to detect and reduce the population of storage fungi in rice.

• The Plant Pathology Journal
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• 제33권6호
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• pp.543-553
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• 2017

Sesame (Sesamum indicum) is an important oil seed crop of Asia. Yields can be negatively impacted by various factors, including disease, particularly those caused by fungi which create problems in both production and storage. Foliar diseases of sesame such as Alternaria leaf blight may cause significant yield losses, with reductions in plant health and seed quality. The work reported here determined the incidence of Alternaria species infecting sesame seeds grown in the Punjab, Pakistan. A total of 428 Alternaria isolates were obtained from 105 seed samples and grouped into 36 distinct taxonomic groups based on growth pattern and morphological characters. Isolation frequency and relative density of surface sterilized and non-surface sterilized seeds showed that three isolates (A13, A47 and A215) were the most common morphological groups present. These isolates were further identified using sequencing of the Internal Transcribed Spacer (ITS) region of ribosomal DNA (rDNA) and the Alternaria major allergen gene (Alt a 1). Whilst ITS of rDNA did not resolve the isolates into Alternaria species, the Alt a 1 sequences exhibited > 99% homology with Alternaria alternata (KP123850.1) in GenBank accessions. The pathogenicity and virulence of these isolates of Alternaria alternata was confirmed in inoculations of sesame plants resulting in typical symptoms of leaf blight disease. This work confirms the identity of a major source of sesame leaf blight in Pakistan which will aid in formulating effective disease management strategies.

• 한국컴퓨터정보학회논문지
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• 제19권12호
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• pp.101-109
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• 2014

의학기술의 발전과 소득수준의 증가로 "건강하게 오래살기"에 관심이 높아지면서 적극적으로 건강을 증진하고 유지하는 웰니스가 확대되고 있다. 또한 맞춤형 의료서비스에 대한 수요가 증가하고 방대한 의료 빅 데이터를 이용한 질병 예방의 움직임도 나타나고 있다. 이 논문에서는, 의료 시장에서 주요 관심분야로 부각되고 있는 웰니스를 지원하기위해 빅 데이터 기반의 의료 질 향상을 통한 환자중심의 의료서비스를 목적으로 한다. 환자를 약물에 의존적으로 치료만 하는 것이 아니라 식생활 개선을 기반으로 질병예방과 치료를 위해 빅데이터를 분석한다. 개인 트윗터를 분석해서 일상생활정보를 획득하고 웰니스 사전을 기반으로 질병예방과 치료를 목적으로 한다. 효율적인 빅데이터 분석을 위해 하둡노드를 증가하면서 데이터 처리시간을 실험하였다. 실험결과 저장시간의 경우 63%, 데이터 통합의 경우 18%, 전체 테스트 시간을 기준으로 26%로 하나의 노드로 처리하는 경우보다 세 개의 노드로 처리하는 것이 효율적임을 실험을 통해 확인하였다.

• The Plant Pathology Journal
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• 제29권2호
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• pp.168-173
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• 2013

Apple ring rot disease, caused by Botryosphaeria dothidea (Moug. ex. Fr) Ces. et de Not., is one of the most important diseases on apple fruits. In this study, strain 9001 isolated from healthy apple fruits from an infested orchard was evaluated for its biocontrol activity against apple ring rot in vitro and in vivo. Strain 9001 showed obvious antagonistic activity to B. dothidea YL-1 when plated on potato dextrose agar. Soaking healthy apples in the bacterial suspensions of strain 9001 prior to artificial inoculation of fungal pathogen resulted in a dramatic decrease in disease incidence when compared to the control. Moreover, either field application in the growth season or postharvest treatment of apples from infected orchards with bacterial suspensions of strain 9001 resulted in significantly reduced disease incidence within the storage period for 4 months at room temperature. Based on the phylogenetic analysis of 16S rRNA and the gyrA gene, strain 9001 was identified as Bacillus amyloliquefaciens. These results indicated that B. amyloliquefaciens 9001 could be a promising agent in biocontrol of apple ring rot on fruit, which might help to minimize the yield loss of apple fruit during the long postharvest period.

• 한국주거학회논문집
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• 제18권5호
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• pp.11-22
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• 2007

The purpose of this study is to propose prototypical plans for a dwelling unit applying the concepts of 'open housing' and 'aging in place' for senior citizens living in cities focusing on specific life patterns with chronic disease. Especially, a unit was designed for diabetes patients because diabetes, a representative disease of elderly people, often accompanies complications such as arthritis and Alzheimer disease. A unit design suitable for the convenient life of the elderly people with diabetes will provide a guideline for the similar unit designs of the senior citizens with other diseases. In this study, three types of unit plan are proposed. A-type plan is for type-1 diabetes patients, B-type alt.1 for the independent seniors of type-2 diabetes patients, and B-type alt.2 for the dependant seniors of type-2 diabetes patients. And a support design for a unit plan with the exclusive area of $60\;m^2$ is proposed. The same support design is used for all three unit types. Although the locations of bathroom and storage room are fixed and the location of the kitchen is changeable only in wet-zone. In conclusion, senior residents with diabetes can choose one of three unit types before occupation and the chosen unit type can be renovated by replacing infill systems as the health condition or life style changes.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.59-64
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• 2016

Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by deficiency of acid ${\beta}$-glucosidase. The diminished enzyme activity leads to the accumulation of substrates and results in multi-systemic manifestations including hepatosplenomegaly, anemia, thrombocytopenia, and bone diseases. Enzyme replacement therapy (ERT) by infusion of recombinant protein has been the standard treatment for over 20 years. Despite the successful long-term treatment with ERT, several unmet needs remain in the treatment of GD1 such as severe pulmonary and skeletal manifestations. Substrate reduction therapy (SRT) reduces the accumulation of substrates by inhibiting their biosynthesis. Eliglustat, a new oral SRT, was approved in United States and Europe as a first-line therapy for treating adult patients with GD1 who have compatible CYP2D6 metabolism phenotypes. Although eliglustat is not yet available in Korea, introduction and summary of this new treatment modality are provided in this paper by review of literatures. Despite the fact that there are only limited studies to draw resolute conclusions, the current data demonstrated that eliglustat is not inferior to ERT in terms of its clinical efficacy. The approval of eligustat enables eligible adult GD1 patients to have the option of oral therapy although it still needs further studies on long-term outcomes. The individual patient should be assessed carefully for the choice of treatment modality when eliglustat becomes available in Korea. Furthermore, the clinical guidelines for Korean patients with GD1 regarding the use of eliglustat needs to be developed in near future.

• Restorative Dentistry and Endodontics
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• 제44권2호
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• pp.13.1-13.9
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• 2019

Objectives: This study evaluated the effect of dentin pretreatment with silver nanoparticles (SNPs) and chlorhexidine (CHX) on the microshear bond strength (${\mu}SBS$) durability of different adhesives to dentin. Materials and Methods: Occlusal surfaces of 120 human molars were ground to expose flat dentin surfaces. The specimens were randomly assigned to six groups (n = 20). Three groups (A, B, and C) were bonded with Adper Single Bond 2 (SB) and the other groups (D, E, and F) were bonded with Clearfil SE Bond (SEB). Dentin was pretreated with CHX in groups B and E, and with SNPs in groups C and F. The specimens were restored with Z250 composite. Half of the bonded surfaces in each group underwent ${\mu}SBS$ testing after 24 hours and the other half was tested after 6 months of water storage. Results: SNP application was associated with a higher ${\mu}SBS$ than was observed in the CHX and control groups for SEB after 24 hours (p < 0.05). A significantly lower ${\mu}SBS$ was observed when no dentin pretreatment was applied compared to dentin pretreatment with CHX and SNPs for SB after 24 hours (p < 0.05). The ${\mu}SBS$ values of the 6-month specimens were significantly lower than those obtained from the 24-hour specimens for all groups (p < 0.05). This decrease was much more pronounced when both adhesives were used without any dentin pretreatment (p < 0.05). Conclusions: SNPs and CHX reduced the degradation of resin-dentin bonds over a 6-month period for both adhesive systems.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권6호
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• pp.518-527
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• 2021

Purpose: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. Methods: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. Results: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. Conclusion: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.