• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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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 Korean Society of Environmental Engineers
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• v.34 no.7
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• pp.488-494
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• 2012

This study was conducted to determine the optimal ratio of sludges from milk processing industry (MPS), paper-mill industry (PMS) and night-soil treatment plant (NSS) for vermicomposting. Five different ratios, 0 : 80 : 20 (MPS-0), 25 : 60 : 15 (MPS-25), 50 : 40 : 10 (MPS-50), 75 : 20 : 5 (MPS-75), and 100 : 0 : 0 (MPS-100 : control) MPS : PMS : NSS by wet weight were tested in a small plot experiment. The experiment for each mixing ratio was performed for 2 weeks with the three replications. MPS-100 (100 : 0 : 0) only had the highest decomposition rate with 19.9%, followed by MPS-25, MPS-50, MPS-75 and MPS-0 with 19.5, 19.1, 17.6 and 16.7%, respectively. Except for MPS-100, Vermicomposting resulted in increase in ash, T-P, $NO_2{^-}-N$, $NO_3{^-}-N$, Mg, K, As, Cd and Cu, whereas moisture, VS (Volatile Substance), TKN (Total Kjeldahl Nitrogen), $NH_4{^+}-N$, Ca, Hg and Pb were lower in the final cast than the initial feed mixture. Meanwhile Zn showed very slight difference and Cr and Ni did not show any tendency between the feed mixture and the final cast. In the case of MPS-100, where the decomposition rate was the highest, all the heavy metals in the final cast except for Hg were increased. All the vermicomposts produced from five different mixing ratios of the vermicomposting sludges met the Korea Standard as by-product compost.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.20-27
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• 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.

• Journal of IKEEE
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• v.26 no.2
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• pp.306-312
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• 2022

We investigated electrical properties and deep level traps in 4H-SiC merged PiN Schottky (MPS) diodes with different barrier heights by different PN ratios and metallization annealing temperatures. The barrier heights of MPS diodes were obtained in IV and CV characteristics. The leakage current increased with the lowering barrier height, resulting in 10 times larger current. Additionally, the deep level traps (Z_1/2 and RD_1/2) were revealed by deep level transient spectroscopy (DLTS) measurement in four MPS diodes. Based on DLTS results, the trap energy levels were found to be shallow level by 22~28% with lower barrier height It could confirm the dependence of the defect level and concentration determined by DLTS on the Schottky barrier height and may lead to incorrect results regarding deep level trap parameters with small barrier heights.

• Journal of Korea Multimedia Society
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• v.22 no.7
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• pp.815-821
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• 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
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• v.5 no.1
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• pp.22-28
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• 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
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• v.5 no.1
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• pp.12-16
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• 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.

• Journal of Environmental Health Sciences
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• v.49 no.1
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• pp.22-29
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• 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
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• v.1 no.1
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• pp.1-1
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• 2015

• Journal of Preventive Medicine and Public Health
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• v.33 no.2
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• pp.184-192
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• 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.