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

• 대한환경공학회지
• /
• 제34권7호
• /
• pp.488-494
• /
• 2012

이 연구에서는 우유가공 : 제지 : 분뇨 슬러지의 습무게 비율을 0 : 80 : 20, 25 : 60 : 15, 50 : 40 : 10, 75 : 20 : 5 그리고 100 : 0 : 0의 5가지 비율로 섞은 혼합물을 지렁이에 급이 하여 2주 후 유기물의 분해율과 생산된 분변토의 이 화학적 특성을 조사하였다. 그 결과는 다음과 같다: 분변토를 생산하기 위하여 지렁이에 우유가공 슬러지만을 급이 하였을 때와 우유가공 슬러지 25%, 제지 슬러지 60% 그리고 분뇨 슬러지 15%로 섞어 급이 하였을 때 분해율이 가장 높았으며 각각 19.9와 19.1%로 비슷하였다. 우유가공 슬러지만을 급이 하였을 경우가 우유가공 슬러지와 분뇨 및 제지 슬러지를 혼합 급이 하였을 경우보다 분해율이 높아 오히려 우유가공 슬러지만 지렁이에 급이 하는 것이 다른 슬러지와 혼합하여 급이 하는 것보다 적합하였다. 퇴비화 기간 2주 후 생성된 분변토 중 회분, T-P, $NO_2{^-}-N$, $NO_3{^-}-N$, Mg, K 함량은 증가하였으나 수분, VS, TKN, $NH_4{^+}-N$, Ca 함량은 감소하였다. 분변토의 중금속 함량은 분해율이 가장 높았던 MPS-100의 경우 Hg를 제외하고 모두 증가하였다. 나머지의 경우 As, Cd, Cu 그리고 Ni 함량은 지렁이에 급이 한 후 증가하였다. 반면에 Hg과 Pb는 감소하였다. 그러나 Zn의 함량 차이는 미미하였으며 Cr과 Ni은 뚜렷한 경향을 보이지 않았다. 분변토의 pH는 초기 혼합물의 pH 보다 감소하였다. 우유가공 슬러지만 그리고 우유가공, 제지와 분뇨 슬러지를 다른 비율로 섞은 4가지 혼합물을 지렁이에 급이 하여 생산된 분변토들은 모두 비료공정규격 부산물비료의 기준을 충족하였다.

• Journal of mucopolysaccharidosis and rare diseases
• /
• 제3권1호
• /
• pp.20-27
• /
• 2017

Purpose: Mucopolysaccharidosis IV (MPS IV) is a disease characterized by deficient activity of N-acetylgalactosamine-6-sulfatase (GALNS) causing excessive lysosomal storage of keratan sulfate (KS). The identification of the relevant disaccharide units of KS after keratanase II digestion followed by liquid chromatography/tandem mass spectrometry detection (LC-MS/MS) is validated and applicable for the preliminary diagnosis of MPS IV. Methods: A total of 67 urine samples were collected and analyzed from 11 MPS IV patients comprising 10 MPS IVA and one MPS IVB patients, and 56 normal controls. Urinary glycosaminoglycan was first precipitated by the Alcian blue method followed by a digestion of keratanase II. The protonated species of the digested disaccharide products were detected by using multiple reaction monitoring experiment. Results: One particular disaccharide of KS was selected. The transition mass-to-charge (m/z) of the parent ion and its daughter ion after collision was $462.0{\rightarrow}97.0$, whereas the chondrosine used as an internal standard in this assay was m/z $353.9{\rightarrow}73.0$. The results corresponded well with the two-dimensional electrophoresis method. The quantities of urinary KS were significantly raised in confirmed MPS IV patients when comparing with those of normal controls ($170.2{\pm}81.1$ vs. $4.06{\pm}1.92{\mu}g/mL$). Conclusion: The LC-MS/MS method for MPS IVA determination is specific, sensitive, validated, and applicable for urinary KS quantification. This method can be used not only as a first-line biochemistry examination of MPS IVA, but also as an outcome survey after enzyme replacement therapy.

• 전기전자학회논문지
• /
• 제26권2호
• /
• pp.306-312
• /
• 2022

서로 다른 PN 비율과 금속화 어닐링 온도에 의해 장벽 높이가 다른 4H-SiC 병합 PiN Schottky(MPS) 다이오드의 전기적 특성과 심층 트랩을 조사했다. MPS 다이오드의 장벽 높이는 IV 및 CV 특성에서 얻었다. 전위장벽 높이가 낮아짐에 따라 누설 전류가 증가하여 10배의 전류가 발생하였다. 또한, 심층 트랩(Z_1/2 및 RD_1/2)은 4개의 MPS 다이오드에서 DLTS 측정을 통해 밝혀졌다. DLTS 결과를 기반으로, 트랩 에너지 준위는 낮은 장벽 높이와 함께 22~28%의 얕은 수준으로 확인되었다. 이는 쇼트키 장벽 높이에 대해 DLTS에 의해 결정된 결함 수준 및 농도의 의존성을 확인할 수 있다.

• 한국멀티미디어학회논문지
• /
• 제22권7호
• /
• pp.815-821
• /
• 2019

This paper presents the design and implementation of a Mission Planning System(MPS) for multiple ballistic missiles. MPSs are also a kind of M&S systems in defense domain, and these provide important computations on the ground before flights of flying objects. The proposed MPS in this paper has a new concept which is far from generating a set of waypoints of a flying object and proving the set. In this paper, we firstly discuss the research motivation of our own MPS; then, we introduce the design of our MPS and its functionalities. In order to prove the practicality of our MPS, we have conducted a case study.

• Journal of mucopolysaccharidosis and rare diseases
• /
• 제5권1호
• /
• pp.22-28
• /
• 2021

Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan-inherited lysosomal storage disease. It is one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterized by intellectual regression, behavioral and sleep disturbances, loss of ambulation, and early death. Unlike other MPS, no disease-modifying therapy has been approved. Here, we review the curative therapy developed for MPS III, from historically ineffective hematopoietic stem cell transplantation and substrate reduction therapy to the promising enzyme replacement therapy or adeno-associated/lentiviral vector-mediated gene therapy. Preclinical studies are presented with recent translational first-in-man trials. We also present experimental research with preclinical mRNA and gene-editing strategies. Lessons from animal studies and clinical trials have highlighted the importance of early therapy before extensive neuronal loss. Disease-modifying therapy for MPS III will likely mandate the development of new early diagnosis strategies.

• Journal of mucopolysaccharidosis and rare diseases
• /
• 제5권1호
• /
• pp.12-16
• /
• 2021

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs), which affects multiple organs and systems. Current treatments for MPS II include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) to reduce the accumulation of GAGs. HCT has the potential advantage that donor-derived enzyme-competent cells can provide a continuous secreting source of the enzyme. However, HCT as a treatment for MPS II remains controversial because its effectiveness is unclear, particularly in terms of neurological symptoms. To date, several clinical experiences with HCT in MPS II have been reported. In this paper, we review post-HCT outcomes in the previously published literature and discuss the effects of HCT on each of the clinical signs and symptoms of MPS II.

• 한국환경보건학회지
• /
• 제49권1호
• /
• pp.22-29
• /
• 2023

Background: The existing research results on the combined toxicity of these pollutants using mammals, such as rodents, are insufficient, especially in relation to changes in the immune system. Objectives: This study aims at evaluating the cellular immune response to PE-MPs solely or when combined with Pb, which possess excellent adsorption capacity with PE-MPs and is commonly co-exposed in our daily lives. Methods: The study investigated the cellular immune function of 9-week ICR mice with 28 days exposure to PE-MPs (2 mg/mouse/day) and Pb (0.1 mM in distilled water) individually and in combination. PE-MPs were administered via gastric intubation while the lead intake was conducted via the oral drinking water route. Cellular immunity was evaluated by analyzing the production for T_H1 cytokines namely, TNF-α and IFN-𝛾 and T_H2 cytokines, IL-4 and IL-6 in culture supernatants from polyclonally activated splenic mononuclear cells ex vivo. Results: Both the PE-MPs only and the PE-MPs+Pb exposure group revealed an increased T_H1 response with elevated TNF-α and IFN-𝛾 levels and downregulated T_H2 response with low IL-4, and IL-6 production levels compared to the control group. Furthermore, an increased IFN-𝛾/IL-4 ratio was found in the PE-MPs only and PE-MPs+Pb exposure groups, which indicated the skewedness to T_H1 response. Meanwhile, reduced blood hemoglobin levels and increased levels of IL-4, the dominant T_H2 cytokine in the Pb-only exposure group, were observed. Conclusions: Our current findings on the predominance of T_H1 immune response in the PE-MPs and PE-MPs+Pb groups suggest that PE-MPs could be responsible for the predominant induction of the cellular immune changes. This finding could be used as an important landmark in research related to T_H1 predominance, such as autoimmune diseases. It suggests that additional research on immune modulation using longer exposure durations or the same exposure route is required to elucidate stronger findings.

• Journal of mucopolysaccharidosis and rare diseases
• /
• 제1권1호
• /
• pp.1-1
• /
• 2015

• Journal of Preventive Medicine and Public Health
• /
• 제33권2호
• /
• pp.184-192
• /
• 2000

Objectives : To inquire the prevalence and the risk factors for myofascial pain syndrome (MPS) on young boys in order to use these results as the fundamental data for the prevention of their MPS. Methods : For 7 days in May 1999, this research was taken on 489 male students ranging from 6th to 12th grade. We randomly selected a class for every group and from these classes we operated physical examinations, self-reported questionnaires and from a rehabilitation doctor, MPS test was taken. Thoracic kyphosis and lumbar lordosis were also taken by using the inclinometer. We defined MPS as a regional pain complaint, palpable taut band that is painful on compression. Results : The shoulder MPS prevalence of the subjects were 29.7 persons/100 persons. The statistics revealed that as grades went up, the percentage significantly increased in the MPS prevalence. As of case-control study, 145 students who were tested postive in all aspects were placed as cases, and 176 students who were perfectly normal as controls on risk factors. As a result of comparing the student groups who were stisfied with their chairs to the student groups were not satisfied, the taller showed a significantly higher odds ratio (p<0.01). By the multiple logistic regression test, we concluded that the MPS disease was prevailed far more in the students in the higher grades (Odds ratio: 1.16, 95% C.I.: 1.03-1.31), and also those who were dissatisfied with their chairs than in the ones who were satisfied (Odds ratio: 1.92, 95% C.I.: 1.17-3.17). Conclusions : Significant correlations showed between the MPS diagnosed group and the students who are dissatisfied with their chairs. As a result, more research and observation has to be made concerning this disease, and the desks and chairs should be adjusted to suit the student's physical standards.