• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Journal of Dental Rehabilitation and Applied Science
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• v.34 no.4
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• pp.270-279
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• 2018

Purpose: The aim of this study was to assess the patients' perception, acceptance, and preference of the difference between a conventional impression and digital impression through questionnaire survey. Materials and Methods: Thirteen (6 male, 7 female) subjects who experienced both digital and conventional impression at the same day were enrolled in this study. Conventional impression were taken with polyvinylsiloxane and digital impression were performed using a newly developed intra-oral scanner. Immediately after the two impressions were made, a survey was conducted with the standardized questionnaires consisting of the following three categories; 1) general dental treatment 2) satisfaction of conventional impression 3) satisfaction of digital impression. The perceived source of satisfaction was evaluated using Likert scale. The distribution of the answers was assessed by percentages and statistical analyses were performed with the paired t-test, and P < 0.05 was considered significant. Results: There were significant differences of the overall satisfaction between two impression methods (P < 0.05). Digital impression showed high satisfaction in less shortness of breath and odor to participants compared to conventional impression. The use of an oral scanner resulted in a discomfort of TMJ due to prolonged mouth opening and in lower score of the scanner tip size. Conclusion: It was confirmed that the preference for the digital impression using intraoral scanner is higher than the conventional impression. Most survey participants said they would recommend the digital impression to others and said they preferred it for future prosthetic treatment.

• Korean Journal of Agricultural Science
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• v.12 no.1
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• pp.47-54
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• 1985

An investigation was made to find regional differences and seed characteristics of buckwheats collected from 36 areas in Chungnam province in 1984, and the results obtained are summarized as follows; 1. Grain types of the collected buckwheats were classified as winged, semi-winged and common types. All collections were on the average composed of 50.1 % of common grain types, 26.8 % of semi-winged type and 23.1 % of winged types, respectively. However, there was a great regional difference in components of each grain type among collections. 2. The mean 1000 grain weight was 24.9 gr. The regional differences in 1000 grain weight showed that a collection (collection no. 30) from Susan was 17.4 gr and a collection (collection. no. 16) from Suchon was 31.9 gr. There wasn't any significant relationship between grain types component and 1000 grain weight. 3. Germination of seeds was accelerated as temperature goes up from $5^{\circ}C$ to $30^{\circ}C$. However, interesting germination pattern was observed. That is, seeds from Suchon (collection no. 16), Hongsung (collection no. 23), Cheonweon(collection no. 35), and Yesan (collection no. 27) showed abrupt decrease of germination rate at the temperature of $15^{\circ}C$. The seeds collected from Suchon (collection no. 29), Dangjin (collection no. 32) and from Chungyang (collection no. 21) showed decrease of germination rate at $25^{\circ}C$. These seeds showed, however, the increase of germination percentage at temperature higher than $15^{\circ}C$ and $25^{\circ}C$, respectively. The germination rate for the most collections at $5^{\circ}C$ was less than 10%. However, seeds from Asan (collection no. 33) and Daeduk (collection no. 3) showed 20% and 30% of germination rate at $5^{\circ}C$, respectively. 4. Color of seed coat could be classified into two maj or colors, dark and dark brown. Based on the seed coat color and grain types, all the collections could be classified into the following six categories: winged-black, semi-winged-black, common-black, winged-dark brown, semi-winged dark brown and common-dark brown. The different light absorption rate was found within the UV light zone (190-390 nm) depending upon the two different major seed coat color.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.87-92
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• 2015

Mucopolysaccharidosis (MPS) is an inherited disease entity associated with lysosomal enzyme deficiencies. MPS type 2, also known as Hunter syndrome, has a characteristic morphology primarily involving x-l inked recessive defects and iduronate-2-sulfatase gene mutation. The purpose of this case report is to provide important clues to help pediatricians identify Hunter syndrome patients earlier (i.e., before the disease progresses). A 30-month-old boy showed developmental delay and decreased speech ability. Physical examinations revealed a flat nose and extensive Mongolian spots. Brain magnetic resonance images (MRIs) showed bilateral multiple patchy T2 hyperintense lesions in the periventricular and deep white matter, several cyst-like lesions in the body of the corpus callosum, and diffuse brain atrophy, which were in keeping with the diagnosis. Based on these findings, the patient was suspected of having MPS. In the laboratory findings, although the genetic analysis of IDS (Iduronate-2-sulfatase) did not show any pathogenic variant, the enzymatic activity of IDS was not detected. We could confirm the diagnosis of MPS, because other sulfatases, such as ${\alpha}$-L-iduronidase, were detected in the normal range. Early enzymatic replacement therapy is essential and has a relatively good prognosis. Therefore, early diagnosis should be made before organ damage becomes irreversible, and brain MRIs can provide additional diagnostic clues to help distinguish the disorder.

• KSCE Journal of Civil and Environmental Engineering Research
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• v.35 no.2
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• pp.353-359
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• 2015

This study introduces a resource recycling system in urban apartment complex using four different technologies. The four technologies, called 4G, include a production technology for reclaimed water (Green water), a biogas production technology from organic waste (Green biogas), a reuse technology of rainwater (Green rainwater), and urban agropark (Green pyramid). Green water is the technology for producing the reclaimed water from wastewater, rainwater and underground water, and the average concentrations of BOD, SS, T-N and coliform of reclaimed water were 7.8mg/L, ND (not detected), 4.9mg/L and ND, respectively. Green biogas is the technology for producing biogas and effluent after treating organic wastes (e.g. food waste and night soil) discharged from households, and the average production rates of hydrogen and methane were $0.33m^3/m^3/d$ and $0.24m^3/m^3/d$, respectively. Green pyramid, agricultural farm operated by biogas and reclaimed water, provides a healthy and recreational space for residents, and plant growth rates using treated water and reclaimed water showed height of 1.32cm and weight of 112.8g. Therefore, 4G technologies can improve the recycling rate and treatment efficiencies of waste and wastewater in an apartment complex.

• Proceedings of the Korean Vacuum Society Conference
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• 2014.02a
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• pp.436-436
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• 2014

본 연구에서는 전 세계적으로 활발히 연구되고 있는 나노바이오센서 분야 중 가장 주목을 받고 있는 LSPR 원리를 이용한 바이오센서를 제작하였다. 금속 나노입자의 국소 표면 플라즈몬 공명현상에 의한 주위환경에 민감하게 반응하는 특성은 고감도 광학형 바이오센서, 화학물질 검출 센서등에 응용된다. 특히 금 나노막대와 같은 1차 나노구조물은 나노막대의 주변 환경 변화에 따라 뚜렷한 플라즈몬 흡수 밴드 변화를 나타냄으로 센서로 적용 했을 때 고감도의 측정이 가능하다. 본 연구에서는 다공성인 알루미늄 양극산화 박막 주형틀을 이용하여 다양한 종횡비를 가지는 금 나노막대를 합성하고, 나노막대 어레이 형태의 박막을 제작하였다. 금 나노막대의 합성은 알루미늄 양극산화막을 사용한 주형제조 방법(template method)을 사용하는 전기화학 증착법을 사용하였다. 우선 부도체인 알루미늄 양극 산화막의 한쪽면을 열증착 장비를 사용하여 금을 증착하여 작업 전극(working electrode)을 형성하였다. 백금 선(platinum wire)을 보조 전극(counter electrode)으로 사용하고 Ag/AgCl 전극을 기준 전극(reference electrode)으로 사용하여 삼전극계(three-electrode system)를 형성하였으며, 금 도금 용액(orotemp 24 gold plating solution, TECHNIC INC.)을 사용하여, 800 mV 전압에서 금 나노 막대를 합성하였다. 금 나노막대의 길이는 테플론 챔버를 통과한 전하량 또는 전기 증착 시간에 비례하여 결정된다. 금 나노막대를 성장시킨 알루미늄 양극산화막을 실리콘 웨이퍼에 은 페이스트를 사용하여 고정시킨 후 수산화나트륨 (NaOH)용액을 사용하여 알루미늄 양극산화막을 녹여내어 수직방향으로 정렬되어 있는 나노 막대 어레이 박막을 제조 하였다. 또한 제작된 금 나노막대 어레이의 광학적 특성을 평가하였다. 본 연구에서와 같이 나노막대를 직경방향으로 측정할 경우, 직경방향의 transverse mode만 측정된다. 금 나노 막대가 알루미늄 양극산화막 안에 포함된 상태로 측정된 금 나노로드 어레이 박막의 광 스펙트럼 분포는 금 나노막대의 가시광영역에서의 흡수 스펙트럼을 측정하였을시 직경 및 길이에 따라 transverse mode의 ${\lambda}$ max (최대 흡광)의 위치가 변화됨을 나타낸다. 실험 결과를 바탕으로 나노막대의 종횡비가 증가함에 따라 흡수 스펙트럼의 transverse mode ${\lambda}$ max가 미약하게 단파장 영역으로 이동하는 것을 확인할 수 있다. 이러한 결과는 원기둥 형태의 금 나노막대의 흡수 스펙트럼에 대한 이론적인 예측과 부합한다. 바이오센서로의 적용 가능성을 확인하기 위하여 자기조립단분자막을 형성하여 항체를 고정하고 CRP에 대한 응답특성을 평가하였다. CRP 항원-항체의 면역반응에 대한 실험 결과 CRP 항원의 농도가 증가함에 따라 넓은 측정범위에서 선형적으로 흡광도가 증가하는 결과를 나타내었으며, CRP 10 fg/ml의 농도까지 검출할 수 있었다. 센서의 선택성을 확인하기 위하여 감지하고자하는 대상물질이 아닌 Tn T 항원을 감지막에 반응시켜 흡광도 변화를 분석하였다. 결과적으로 제작된 센서칩은 선택성을 가지고 측정하고자하는 물질에만 반응함을 확인하였다. 이러한 결과는 다양한 직경을 사용한 부가적인 LSPR현상의 연구에 활용될 수 있을 것이다.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.9-17
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• 2015

Glycogen storage disease (GSD) type Ia is rare inborn metabolic disorder, caused by glucose-6-phosphatase deficiency. It characterized by hepatomegaly, hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia and it is usually manifested in the infantile period. In addition, it is also associated with growth failure, pubertal delay, anemia, platelet dysfunction, osteopenia, and pulmonary hypertension. Hepatocellular adenoma and renal dysfunction are frequent late complications. Delayed diagnosis and inappropriate therapy lead to many complications such as growth failure, osteoporosis, refractory gout, renal failure, hepatocellular carcinoma (HCC), and pulmonary hypertension. Here, two Korean sisters diagnosed with GSD Ia, aged 33 and 36 respectively, were described and compared to recent articles about four adults with late diagnosis of GSD Ia. One sister had typical manifestations of GSD Ia including short stature (height, 145 cm), multiple hepatic adenoma, chronic kidney disease stage IV, and severe osteoporosis, whereas the older sister had normal stature (162 cm), one tiny hepatic nodule, and normal renal function. Direct sequencing of G6PC in two sisters identified a homozygous splicing mutation, c.645G>T, which is a prevalent mutation in Korea. Interestingly, our cases and four adults from recent reports had asymptomatic mild hypoglycemia and various manifestations including renal failure, HCC, fatty liver, or uncontrolled hyperlipidemia. These adult cases represent not only heterogenous phenotype to genotype within family members with GSD Ia but also long-term complications such as gouty arthritis, renal failure, and osteoporosis in untreated adult GSD Ia patients. In addition, lactic academia and hypertriglyceridemia are good markers of GSD Ia to distinguish from metabolic disease.

• Journal of Plant Biotechnology
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• v.40 no.3
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• pp.135-140
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• 2013

A less simple approach developed for generation of marker-free transgenic plants is to select transformants without the use of selective marker genes. Some results about development of marker-free transgenic plants were obtained using a non-selective approach in several crops such as rice, potato and tobacco. However, the study did not provide evidence on detailed characterization of introduced gene on genome, a critical step for confirming the stable integration and transmission of a foreign gene. In this study, we evaluated structure and integration sites of transgene (mCry1Ac) in the transgenic Bt rice plants which were made via conventional Agrobacterium-mediated transformation by non-selective method. Structure and integration sites of transgene in these transgenic plants had similar fashion as those recovered under selection.

• Proceedings of the Materials Research Society of Korea Conference
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• 2012.05a
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• pp.78.2-78.2
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• 2012

최근 PRAM의 집적도 향상 및 3차원 적층에 의한 메모리 용량 향상을 위해 셀 선택 스위치로서 박막형 Ovonic Threshold Switching (OTS) 소자를 적용한 Cross bar 구조의 PRAM이 제안된 바 있다. OTS 소자는 비정질 칼코지나이드를 핵심층으로 하는 2단자 소자로서 고저항의 Off 상태에 특정 값 (문턱스위칭 전압) 이상의 전압을 가해주면 저저항의 On 상태로 바뀌고 다시 특정 값 (유지전압) 이하로 전압을 감소시킴에 따라 고저항의 Off 상태로 복원하는 특성을 갖는다. 셀 선택용 스위치로 적용되기 위해서는 핵심적으로 On-Off 상태간의 가역적인 변화 중에도 재료가 비정질 구조를 안정하게 유지해야 하며 전기적으로는 Off 상탱의 저항이 크고 또한 전류값의 점멸비가 커야 한다. GeSe는 이원계 재료로서 단수한 구성에도 불구하고 OTS 소자가 갖추어야할 기본적인 특성을 가지는 것으로 알려져 있다. 본 연구에서는 GeSe로 구성된 OTS 재료에 경원소인 질소를 첨가하여 비정질 상태의 안정성과 소자특성의 개선 효과를 조사하였다. RF-puttering 시 Ar과 $N_2$의 혼합 Gas를 사용하여 조성이 $Ge_{62}Se_{38}$ ($N_2$ : 3%)인 박막을 제작하여 DSC를 통해 결정화온도(Tx)를 확인하였고, $N_2$ gas의 함유량이 각각 1 %, 2 %, 3 %인 $Ge_{62}Se_{38}$인 박막을 전극의 접촉 부 면적이 $10{\times}10\;{\mu}m^2$인 cross-bar 구조의 소자로 제작하여 Threshold switching voltage ($V_{th}$), Delay time ($t_d$), $I_{on}/I_{off}$ 그리고 Endurance 특성을 평가하였다. DSC 분석 결과 $N_2$ 가 3 % 첨가된 GeSe 박막은 Tx가 $371^{\circ}C$에서 $399^{\circ}C$로 증가되었다. $N_2$가 1% 첨가된 GeSe 소자를 측정한 결과 $V_{th}$의 변화 없는 가운데 $I_{on}/I_{off}$이 약 $2{\times}10^3$에서 $5{\times}10^4$로 향상되었다. Endurance 특성 역시 $10^4$에서 $10^5$번으로 향상되었다. $t_d$의 경우 비정질 상태의 저항 증가로 인해 약 50% 증가되었다. 이러한 $N_2$의 첨가로 인한 비정질 GeSe 박막의 변화 원인에 대한 분석 결과를 소개할 예정이다.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.18-24
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• 2015

Glycogen storage disease type Ib (GSD Ib) is one of the rare inherited metabolic disease caused by mutation of SLC37A4 gene. Clinical characteristics include hepatomegaly, hypoglycemia, lactic acidosis, hyperlipidemia and high serum uric acid concentration. The authors analyzed clinical and molecular characteristics of three Korean patients (one male and two females) with GSD Ib by retrospective review of medical records. Two patients were diagnosed in toddler period by hypoglycemia and hepatomegaly. One patient was diagnosed by growth retardation and short stature in puberty. c.412T>C (p.Trp138Arg) (3/6 alleles, 50.0%) was most frequently observed, following by p.Leu348Valfs*53 (1 allele), p.Pro191Leu (1 allele), p.Ala148Val (1 allele) in molecular analysis. Uncooked corn starch and allopurinol was administered. Because all three patients had neutropenia and recurrent infections, G-CSF was administered. Two patients had severe osteoporosis needing calcium supplement. The patient who diagnosed at puberty had relatively poor prognosis demonstrated by having severe infection and complications in liver and kidney.