• Journal of Genetic Medicine
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• v.13 no.2
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• pp.72-77
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• 2016

Purpose: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat ($Zavesca^{(R)}$) was approved for the treatment of adults with GD type 1, for whom enzyme replacement therapy (ERT) is unsuitable or not a therapeutic option. In this study, we report the effect of miglustat ($Zavesca^{(R)}$) in three Korean GD patients. Materials and Methods: Clinical findings comprising age at diagnosis, presenting signs, laboratory findings at diagnosis, GBA activity and mutations, and clinical courses of the three patients were reviewed. Results: Miglustat was administered to three patients who reported allergic reactions during intravenous imiglucerase infusions. One patient withdrew after 15 months of miglustat administration owing to continuous elevation of disease biomarker levels (chitotriosidase, acid phosphatase, and angiotensin-converting enzyme). Poor adherence to medication was suspected but was denied by the patient. In the other two patients, platelet count and levels of hemoglobin and other biomarkers remained stable during miglustat administration. However, they suffered from severe diarrhea and weight loss, which led to miglustat discontinuation after 1 and 12 months of administration. Conclusion: Our study shows that although miglustat is suggested to GD patients as an alternative treatment to ERT, significant adverse reactions may lead to discontinuation of miglustat. In addition, it is difficult to monitor the drug adherence.

• Journal of Interdisciplinary Genomics
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• v.1 no.2
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• pp.15-18
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• 2019

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism resulting from a deficiency in ${\beta}$-glucocerebrosidase (GBA) activity that leads to the accumulation of glucocerebroside in macrophages in multiple organs, such as the bone marrow, liver, spleen, and brain. GD can be classified into three clinical types: type 1 (non-neuropathic form, OMIM #230800); type II (acute neuropathic form, OMIM #230900); and type III (chronic neuropathic form, OMIM #231000). Type III is the subacute form of neuropathic GD. The best available treatment for GD is long-term enzyme (imiglucerase) replacement therapy (ERT) performed every two weeks. This report describes the long-term clinical course of a patient with type III GD who was treated with ERT for 18 years.

• Coupled systems mechanics
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• v.13 no.1
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• pp.1-19
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• 2024

The effectiveness of coupling with a bolted rim is assessed in this research using a newly designed optimization algorithm. The current study, which is provided here, evaluates 10 contemporary metaheuristic approaches for enhancing the coupling with bolted rim design problem. The algorithms used are particle swarm optimization (PSO), crow search algorithm (CSA), enhanced honeybee mating optimization (EHBMO), Harmony search algorithm (HSA), Krill heard algorithm (KHA), Pattern search algorithm (PSA), Charged system search algorithm (CSSA), Salp swarm algorithm (SSA), Big bang big crunch optimization (B-BBBCO), Gradient based Algorithm (GBA). The contribution of the paper isto optimize the coupling with bolted rim problem by comparing these 10 algorithms and to find which algorithm gives the best optimized result. These algorithm's performance is evaluated statistically and subjectively.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.1-13
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• 2020

Purpose: Gaucher disease (GD), which is the most prevalent lysosomal storage disorder worldwide, is caused by mutations in the glucocerebrosidase gene (GBA). GD is divided into three clinical subtypes based on the appearance of neurological symptoms. Type 1 GD is a chronic non-neuronopathic disease, and types 2 and 3 are acute neuronopathic and chronic neuronopathic forms, respectively. Neuronopathic GD types 2 and 3 are characterized by increased levels of glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph) in the brain, leading to massive loss of neurons. Methods: DNA damage and subsequent apoptosis of H4 cells were observed following neuroglioma H4 cell culture with GlcCer or GlcSph. Neuronal cell apoptosis was more prominent upon treatment with GlcSph. Results: When H4 cells were treated with GlcSph in the presence of tubacin, a histone deacetylase 6 inhibitor (HDAC6i), attenuation of both DNA damage and a reduction in the protein expression levels of GlcSph-induced apoptosis-associated factors were observed. Conclusion: These findings indicated that GlcSph played a prominent role in the pathogenesis of neuronopathic GD by inducing apoptosis, and that HDAC6i could be considered a therapeutic candidate for the treatment of neuronopathic GD.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.63-68
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• 2017

Gaucher disease (GD) is caused by the deficiency of glucocerebrosidase. In pediatric patients with GD, especially Type I GD, enzyme replacement therapy (ERT) can reduce the hepatosplenomegaly and improve the hematologic finding and growth velocity. Herein, we report a 2-year-old girl with Type I GD presented with hepatosplenomegaly, bone pain and growth retardation. A 2 year-old-girl was referred to our hospital due to severe hepatosplenomegaly and growth retardation. She suffered from both leg pain and chronic fatigue. Simple x-ray showed widened distal long bones like that of an 'Erlenmeyer flask' which is associated with GD. The laboratory test showed anemia and thrombocytopenia. The enzyme activity was markedly reduced and the direct sequencing of the GBA gene showed the compound heterozygous mutations, p.G46E and p.L444P. As the G46E have been considered as the protective gene against neuronopathic genotype, we could assess the Type I GD in this patient. After one year of ERT, the growth velocity became 11 cm per year. Bone pain and fatigue disappeared. The volume of liver and spleen was reduced from $683cm^3$ and $703cm^3$ to $590cm^3$ and $235cm^3$, respectively. Although GD is an extremely rare disease in Korea, growth retardation and bone pain in children are the important signs which lead to early detection of GD and a simple radiologic finding is helpful to assess the GD at outpatient clinic. We highlight that the early diagnosis and early ERT is important for good growth and outcome for pediatric patients with GD.

• Journal of Advanced Navigation Technology
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• v.19 no.1
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• pp.1-6
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• 2015

Due to the rapid increase in air traffic worldwide, ICAO has replaced the existing navigation equipment with equipment based on satellite navigation. As a part of that work, ICAO was planning to replace conventional takeoff and landing service using ILS with GBAS. Unlike ILS, GBAS which uses precision approach service inducing aircraft to airport and satellite based augmentation system providing precise position information service surrounding airport is capable of providing a required performance by only a system, regardless of the number of systems, and has an advantage that it is possible curved approach. In this paper, fuel reduction of ILS approach procedures and GBAS curved approach procedures is estimated and determined by flight test in Taean Airport.

• Journal of Satellite, Information and Communications
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• v.8 no.1
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• pp.40-44
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• 2013

In this paper, we describe on the position error of GBAS. In reality, there are many sources which make errors into the calculation of receiver position. It is well known that the DOP of GBAS is an important position error source and is dependent on the numbers and positions of the transmitters. Here, we develop an algorism to calculate the DOP of the GNSS with 2-line transmitters into Korean area. The result is useful to predict the DOP of the positions where transmitters and receivers are located.

• Journal of Animal Science and Technology
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• v.62 no.3
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• pp.293-305
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• 2020

The difference in the breeding programs and population history may have diversely shaped the genomes of Korean native cattle breeds. In the absence of phenotypic data, comparisons of breeds that have been subjected to different selective pressures can aid to identify genomic regions and genes controlling qualitative and complex traits. In this study to decipher genetic variation and identify evidence of divergent selection, 3 Korean cattle breeds were genotyped using the recently developed high-density GeneSeek Genomic Profiler F250 (GGP-F250) array. The three Korean cattle breeds clustered according to their coat color phenotypes and breeding programs. The Heugu breed reliably showed smaller effective population size at all generations considered. Across the autosomal chromosomes, 113 and 83 annotated genes were identified from Hanwoo-Chikso and Hanwoo-Heugu comparisons, respectively of which 16 genes were shared between the two pairwise comparisons. The most important signals of selection were detected on bovine chromosomes 14 (24.39-25.13 Mb) and 18 (13.34-15.07 Mb), containing genes related to body size, and coat color (XKR4, LYN, PLAG1, SDR16C5, TMEM68, CDH15, MC1R, and GALNS). Some of the candidate genes are also associated with meat quality traits (ACSF3, EIF2B1, BANP, APCDD1, and GALM) and harbor quantitative trait locus (QTL) for beef production traits. Further functional analysis revealed that the candidate genes (DBI, ACSF3, HINT2, GBA2, AGPAT5, SCAP, ELP6, APOB, and RBL1) were involved in gene ontology (GO) terms relevant to meat quality including fatty acid oxidation, biosynthesis, and lipid storage. Candidate genes previously known to affect beef production and quality traits could be used in the beef cattle selection strategies.

• Journal of the Korean Society for Aeronautical & Space Sciences
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• v.43 no.1
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• pp.49-61
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• 2015

Ground Based Augmentation System(GBAS) is a system that offers an aircraft within 23 NM radius from the airport precision positioning service and precision approach service using the concept of Differential Global Positioning System(DGPS). After GBAS ground equipment installing at the airport, functionalities and performances of GBAS should be verified through the GBAS ground and flight testing. This paper describes the methods and results for GBAS flight test using the flight inspection aircraft at Gimpo International Airport. From the test results, we confirmed that the VDB data was received without misleading within the VDB coverage of Gimpo International Airport, and VDB field strength, protection level, and course alignment accuracy met the evaluation's criteria.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.37-42
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• 2013

Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase (GBA). This condition is characterized by accumulation of glucocerebrosidase in liver, spleen, lung, skeletal system, and central nervous system. Gaucher disease is the prototype of disease in which efficacy of enzyme replacement therapy has been established. However, because recombinant enzyme is not able to enter the central nervous system, its efficacy is limited to the non-neurological manifestations of Gaucher disease. Importantly, approximately a half of Korean patients with Gaucher disease suffer from neurological manifestations. In addition, Korean Gaucher disease patients exhibit distinct mutation spectrum from those in other populations. Common mutations in Korean patients with Gaucher disease are also associated with neurological phenotype. Therefore, therapeutic strategies tailored to Korean patients were necessary. Interestingly, a chemical chaperone, ambroxol, has been known to increase residual enzymatic activities of the select mutant GBAs encoded by mutations prevalent in Korean patients. One promising aspect of this drug is that it can cross blood-brain barrier, and enhance the enzyme activity in the brain. In vitro study suggested this chemical chaperone as one of new therapeutic agents in Gaucher disease, and a well-designed human trial is required to confirm its efficacy.