• Journal of mucopolysaccharidosis and rare diseases
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• 제4권2호
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• pp.37-41
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• 2018

Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) is a rare autosomal recessive disease caused by a deficiency of one of four enzymes involved in the degradation of glycosaminoglycan (GAG). The resultant cellular accumulation of GAG causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system. A number of genetic and biochemical diagnostic methods have been developed. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. Main purpose of the treatment for MPS III is to prevent neurologic deterioration. Because conventional intravenous enzyme replacement therapy (ERT) has a limitation due to inability to cross the blood-brain barrier, several innovative therapeutic approaches for MPS III are being developed. This review covers the currently developing new therapeutic options for MPS III including high dose ERT, substrate reduction therapy, intrathecal or intraventricular ERT, fusion protein delivery using bioengineering technology, and gene therapy.

• 지구물리와물리탐사
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• 제10권4호
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• pp.322-331
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• 2007

본 연구에서는 충북 제천 소재 금풍광산 광화대에 대해 지표 물리탐사결과 탐지된 이상대의 원인규명 및 광화대의 부존특성을 파악할 목적으로 시추공 비저항 토모그래피탐사를 적용하였다. 경사 시추공으로 인한 토모그래피탐사 자료의 겉보기 비저항값의 보정을 위하여 정확한 전극위치를 파악코자 공곡측정을, 시추공 주변부에 대한 물성정보를 얻고자 전기비저항 및 자연감마 등의 물리검층을, 코어시료에 대해 전기비저항값과 물성들 간의 상관성을 파악코자 공극률, 밀도, 대자율, 전기비저항 등의 물성시험을 수행하였으며, 전도성 광물의 품위와 전기비저항과의 관계를 규명하고자 품위분석을 하였다. 물성시험 결과, 본 연구지역과 같은 전도성황화광체 부존지역에서는 전기비저항이 공극률, 함수율과 같은 물성보다는 대자율, 품위와 같은 물성에 압도적으로 지배되는 것으로 확인되었으며, 비저항 토모그래피 탐사자료의 역산 결과, 비저항 분포 단면이 물리검층 자료 및 주상도와 일치하는 양호한 결과를 얻었다. 따라서 비저항 토모그래피탐사가 전도성 황화광체의 부존 특성 파악에 탁월한 효과를 보이는 것을 알 수 있었다.

• 전기전자학회논문지
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• 제20권2호
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• pp.152-162
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• 2016

전기 저항률 단층촬영법(ERT)은 표면 전극으로부터 측정된 전압을 사용하여 물체 내부의 임피던스 분포를 영상화하는 기술이다. ERT 역문제는 비정치성(ill-posedness)이 매우 심하여 영상복원의 수렴성을 확보하기 위해 조정방법이 사용된다. 사용된 조정방법에 따라 영상복원 성능이 달라지므로 상황에 따라 보다 강건한 영상 복원 성능을 얻기 위해, 서로 다른 영상복원 특성을 나타내는 L1-norm 조정방법과 Total Variation (TV) 조정방법의 두 개의 모드가 상호작용하는 상호작용 이중-모드 조정방법을 제안하였다. 제안한 이중-모드 조정방법은 실제 상황에 따라 달라지는 모드 확률을 계산하고 이에 근거하여 적합한 모드를 선택하거나 두 개의 모드를 결합한다. 모의실험을 수행하여 제안된 기법의 영상 복원 성능을 평가한 결과 비교적 양호한 성능을 나타내었다.

• 한국지구물리탐사학회:학술대회논문집
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• 한국지구물리탐사학회 2006년도 공동학술대회 논문집
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• pp.73-78
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• 2006

저수지 누수구간에 대한 지수를 목적으로 저수지 제체를 대상으로 시멘트 그라우트를 이용한 그라우팅을 수행하였으며, 효과 검증을 위하여 그라우팅 전후에 다양한 수리시험과 전기비저항 탐사를 수행하였다. 효과 검증을 위한 쌍극자배열 전기비저항 탐사 결과 그라우팅 이후 전극 전개별 겉보기 비저항 이상곡선이 양호한 연속성과 주입 구간 전체에서 저비저항대가 수평적으로 발달되는 결과가 나타났다. 또한 장기간의 전기비저항 수직탐사를 이용한 결과 겉보기 비저항을 이용하는 경우 주입 이전에 비해 낮아지는 구간으로 주입 구간 확인이 가능하였다. 검사공을 이용한 전기비저항 토모그래피 탐사 결과 제체 상부에서 수행한 기존의 탐사 결과와 일치됨에 따라 향후 검사공을 이용한 그 라우팅 효과 판정 시 이 방법을 병행하는 경우 제체의 그라우팅 효과에 대한 공간적인 검증이 가능함을 확인하였다.

• Nuclear Engineering and Technology
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• 제46권1호
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• pp.109-116
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• 2014

An electrical resistance tomography (ERT) technique combining the particle swarm optimization (PSO) algorithm with the Gauss-Newton method is applied to the visualization of two-phase flows. In the ERT, the electrical conductivity distribution, namely the conductivity values of pixels (numerical meshes) comprising the domain in the context of a numerical image reconstruction algorithm, is estimated with the known injected currents through the electrodes attached on the domain boundary and the measured potentials on those electrodes. In spite of many favorable characteristics of ERT such as no radiation, low cost, and high temporal resolution compared to other tomography techniques, one of the major drawbacks of ERT is low spatial resolution due to the inherent ill-posedness of conventional image reconstruction algorithms. In fact, the number of known data is much less than that of the unknowns (meshes). Recalling that binary mixtures like two-phase flows consist of only two substances with distinct electrical conductivities, this work adopts the PSO algorithm for mesh grouping to reduce the number of unknowns. In order to verify the enhanced performance of the proposed method, several numerical tests are performed. The comparison between the proposed algorithm and conventional Gauss-Newton method shows significant improvements in the quality of reconstructed images.

• Clinical and Experimental Pediatrics
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• 제62권6호
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• pp.224-234
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• 2019

Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. Results: Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. Conclusion: As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.62-67
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• 2020

Purpose: Eliglustat is an oral substrate reduction therapy (SRT) approved for adults with Gaucher disease type I (GD1) who are extensive, intermediate, or poor CYP2D6 metabolizers. Here we report one-year experience of eliglustat switch therapy from long-term enzyme replacement therapy (ERT) in three adult patients with GD1. Materials and Methods: Medical history, clinical (hemoglobin concentration, platelet count, and bone mineral density) and biochemical parameters (angiotensin converting enzyme, total acid phosphatase, and lyso-gb1) of the patients were collected and evaluated by retrospective review of medical records at every 3, 6, or 12 month after switch to SRT. Results: Patient 1 was a 43-year old female diagnosed GD1 and her clinical and biochemical parameters were stabilized for more than 20 years by ERT. Due to the burden of regular hospital visit, she switched to SRT. During one-year of SRT, clinical parameters and biomarkers were maintained stable. However, after suffering acute febrile illness during SRT, she decided to re-switch to ERT due to concerns about drug interaction. Patient 2 was 41-year old male, younger brother of patient 1 and Patient 3 was 31-year old male. They switched to SRT in clinically stable condition with long-term ERT. The one-year SRT was tolerable without specific safety issue and the clinical parameters were maintained stable. Conclusion: One-year eliglustat therapy in three adult patients with GDI was generally tolerable and effective for maintaining the clinical parameters and biomarkers. However, the drug compliance, concurrent drug interactions, and long-term safety of eliglustat should be carefully monitored.

• Journal of mucopolysaccharidosis and rare diseases
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• 제3권1호
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• pp.14-19
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• 2017

Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders caused by the deficiency of specific lysosomal enzymes and subsequent accumulation of substrates. Enzyme deficiency leads to progressive intra-lysosomal accumulation of the incompletely degraded substances, which cause dysfunction and destruction of the cell and eventually multiple organ damage. Patients have a broad spectrum of clinical phenotypes which are generally not specific for some LSDs, leading to missed or delayed diagnosis. Due to the availability of treatment including enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation for some LSDs, early diagnosis is important. ERT products have been approved with optimal outcomes for some LSDs in the recent decades, including Gaucher, Fabry, mucopolysaccharidosis (MPS) I, Pompe, MPS VI, MPS II, and MPS IVA diseases. ERT can stabilize the clinical condition, prevent disease progression, and improve the long-term outcome of these diseases, especially if started prior to irreversible organ damage. Based on the availability of therapy and suitable screening methods in the recent years, some LSDs, including Pompe, Fabry, Gaucher, MPS I, MPS II, and MPS VI diseases have been incorporated into nationwide newborn screening panels in Taiwan.

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권1호
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• pp.7-10
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• 2018

Rare diseases are life threatening or chronically debilitating diseases with a low prevalence (less than 2,000 people in a population), which includes lysosomal storage diseases. These diseases are often seen as unimportant especially in developing countries, such as Indonesia, due to small number of patients. National Rare Disease Center in Indonesia was pioneered almost 20 years ago and officially established in 2017 by the Indonesian Minister of Health. Lysosomal storage disease become the most commonly found inborn errors of metabolism (IEM) in Indonesia due to easily accessible diagnostic facilities. Currently there are 7 patients receiving ERT in this mixed-donation scheme, one patient with Gaucher disease and 6 patients with MPS type II. Few challenges for ERT in Indonesia include importation through special access scheme, preparation of ERT infusion in intensive care settting, and cost of treatment. Even with limited resources, healthcare professionals in Indonesia have been giving the best care possible for rare disease patients, especially to provide diagnostic facilities through collaboration and treatment options for treatable rare diseases. Improvements in care for rare disease patients are still needed.

• 한국환경복원기술학회지
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• 제16권5호
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• pp.119-130
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• 2013

The objective of this study was to analyze an availability of green roof soil based on the bottom ash soil and compost using sludge derived from food factory as comparing and analysing the growth of native plants. Analysing the physical properties and chemical resistance of 12 different type mixing soils which is mainly used in green roof, selected 4 types of soil, experiments were conducted to compare plant growth. The growth status of the plant showed the most superior of the soil 13(control), next soil 9(Pearlite : Bottom Ash : Compost = 20 : 60 : 20) and soil 10(Pearlite : Zeolite : Compost = 60 : 20 : 20) This result showed that native plants grow well in the soil based on the bottom ash and compost using sludge derived from food factory, and this soil type is determined that is available the green roof soil.