• Journal of Genetic Medicine
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• v.19 no.1
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

• IMMUNE NETWORK
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• v.22 no.6
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• pp.48.1-48.13
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• 2022

With the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants, which are randomly mutated, the dominant strains in regions are changing globally. The development of preclinical animal models is imperative to validate vaccines and therapeutics against SARS-CoV-2 variants. The objective of this study was to develop a non-human primate (NHP) model for SARS-CoV-2 Delta variant infection. Cynomolgus macaques infected with Delta variants showed infectious viruses and viral RNA in the upper (nasal and throat) and lower respiratory (lung) tracts during the acute phase of infection. After 3 days of infection, lesions consistent with diffuse alveolar damage were observed in the lungs. For cellular immune responses, all macaques displayed transient lymphopenia and neutrophilia in the early stages of infection. SARS-CoV-2 Delta variant spike protein-specific IgM, IgG, and IgA levels were significantly increased in the plasma of these animals 14 days after infection. This new NHP Delta variant infection model can be used for comparative analysis of the difference in severity between SARS-CoV-2 variants of concern and may be useful in the efficacy evaluation of vaccines and universal therapeutic drugs for mutations.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• v.25 no.4
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• pp.452-461
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• 2023

The Anterior Inferior Cerebellar Artery-Posterior Inferior Cerebellar Artery (AICA-PICA) common trunk is a rare variant of cerebral posterior circulation in which a single vessel originating from either the basilar or vertebral arteries supplies both cerebellum and brainstem territories. We present the first case of an unruptured right AICA-PICA aneurysm treated with flow diversion using a Shield-enhanced pipeline endovascular device (PED, VANTAGE Embolization Device with Shield Technology, Medtronic, Canada). We expand on this anatomic variant and review the relevant literature. A 39-year-old man presented to our treatment center with vertigo and right hypoacusis. The initial head CT/CTA was negative, but a 4-month follow-up MRI revealed a 9 mm fusiform dissecting aneurysm of the right AICA. The patient underwent a repeat head CTA and cerebral angiogram, which demonstrated the presence of an aneurysm on the proximal portion of an AICA-PICA anatomical variant. This was treated with an endovascular approach that included flow diversion via a PED equipped with Shield Technology. The patient's post-procedure period was uneventful, and he was discharged home after two days with an intact neurological status. The patient is still asymptomatic after a 7-month follow-up, with MR angiogram evidence of stable aneurysm obliteration and no ischemic lesions. Aneurysms of the AICA-PICA common trunk variants have a high morbidity risk due to the importance and extent of the territory vascularized by a single vessel. Endovascular treatment with flow diversion proved to be both safe and effective in obliterating unruptured cases.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.11-17
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• 2017

Purpose: Phenylketonuria (PKU) results from a deficiency of phenylalanine hydroxylase (PAH). The mutation of the PAH gene results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. This study reports ten cases of patients with the benign HPA genotype c.158G>A (p.Arg53His, R53H) variant in the PAH gene and aims to evaluate the clinical significance of the R53H variant. Methods: Ten Korean patients with the HPA genotype the R53H variant were included in this study. A retrospective medical record review was conducted. We characterized the phenotypes of the patients with HPA with the R53H variant using the following system: classic PKU, moderate PKU, mild PKU, Mild HPA, and benign HPA. Results: Five patients had the R53H variant with the "Pathogenic" variants (R413P, R241C, $Y356^*$, c.442-1G>A, $Y325^*$), Two patients had the "Likely pathogenic" variants ($W187^*$, A259T), Two patients had the "Uncertain significance" variants (R53H, G344D), and One patient had the "Not provided" variant (c.1066-14C>G). Nine patients genotyped with the R53H variant were the patient with benign HPA and One patient genotyped with the R53H homozygote was within normal range of plasma phenylalanine. None of the ten patients required dietary restriction of phenylalanine or pharmacotherapy to maintain their plasma phenylalanine levels and showed no clinical symptoms of HPA. Conclusion: Ten patients with HPA genotype the R53H variant were the patient with benign HPA and showed no clinical symptoms of HPA. Thus, the R53H variant, which was previously classified as an "Uncertain significance" mutation in HPA patients, should be re-classified as "Benign."

• Journal of Ginseng Research
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• v.13 no.2
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• pp.153-157
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• 1989

The characteristics of the areal parts, photosynthetic and respiration rates and stem color were examined in 1- to 5-year-old Green-stem, Violet-stem and Yellow-berry variant ginseng (Panax ginseng C.A. Meyer). The top characteristics, photosynthetic and respiration rates were not significantly different among the three variants. Selfed progency of the Green-stems variant plant produced only green stems, while the others produced green and violet stem in the seedling stage. These results showed that most of the top characteristics of the Green-stem variant were similar those of the Violet-stem and Yellow-berry variants with age.

• Proceedings of the IEEK Conference
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• 2000.09a
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• pp.923-926
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• 2000

In this paper we address the problem of detecting and estimating an unknown narrow band signal in a noise interference environment A new practical band estimation method, yielding good performance even in case of finite-length data, is presented. More specifically, wavelet packet transform is utilized to detect the more accurate time-variant band, then we estimate the power from wavelet filter-coefficients of the respective band. Also, third-order cumulants, and projection cross-correlation (PCC) criterion are utilized to achieve an effective SNR improvement for the time-variant band estimation. In case of time variant band estimation, the PCC method yields better performance than the correlation method.

• Proceedings of the Korean Institute of Intelligent Systems Conference
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• 2007.04a
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• pp.435-439
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• 2007

This paper deals with RLS algorithm using Newton-Raphson method based adaptive forgetting factor for a passive telemetry RF sensor system in order to estimate the time variant parameter to be included in RF sensor model. For this estimation with RLS algorithm, phasor typed RF sensor system modelled with inductive coupling principle is used. Instead of applying constant forgetting factor to estimate time variant parameter, the adaptive forgetting factor based on Newton-Raphson method is applied to RLS algorithm without constant forgetting factor to be determined intuitively. Finally, we provide numerical examples to evaluate the feasibility and generality of the proposed method in this paper.

• Journal of Microbiology
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• v.37 no.3
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• pp.180-184
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• 1999

hybridoma cells producing IgM anti-pneuococcal 6B polysaccharide antibodies were induced to switch to IgG-producing cells in vitro by treating with acridine orange. Treating 0.5 $\mu\textrm{g}$/ml of acridine orange for 24 hours generated maximal number of variant cells. The maximal isotype switch frequency was 3${\times}$10-5, which is about 30-fold higher than the frequency of spontaneous switching. Resulting IgG-producing variants were enriched by sib selection and ELISA spot assay. Two IgG3-producing variant cells were finally cloned by limiting dilution. The variant cells produced similar amounts of antibodies as their parental cells did. The two switched antibodies had similar reactivity to pneumococcal 6B polysaccharide. When compared to their parental IgM antibodies, the switched IgG3 than that of IgM antibody. The antibodies will be useful as essential tools for comparative study of the role of heavy chain isotypes in protection against Streptococcus pneumoniae.

• Natural Product Sciences
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• v.10 no.5
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• pp.217-219
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• 2004

Cissus quadrangularis L. variant I (Family: Vitaceae), the common variant with square stem is widely used for peptic ulcer disorders (PUD) in traditional medicine. Aerial parts were collected during flowering and vegetative seasons and analysed. Aqueous (hot and cold) and solvent extracts (acetone, chloroform and ethanol) were screened for their anti-Helicobacter pylori (Hp) activities. Among them chloroform extract was observed to recover bioactive principles markedly with low minimal inhibitory concentration (MIC) and minimal lethal concentration (MLC). MIC was $30\;{\mu}g$ in both samples and MLC was $35\;{\mu}g$ for vegetative and $30\;{\mu}g$ for flowering seasons, respectively. Extracts from samples collected during flowering season were better than thse of vegetative season.

• Proceedings of the Korean Operations and Management Science Society Conference
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• 2005.10a
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• pp.10-26
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• 2005

In our model, we keep inventory to satisfy uncertain demands which arrives irregularly. In this situation, we have additional two constraints. First, we need to have certain amount of order consolidation (consolidation constraint) for the orders to replenish the inventory because of production or purchase constraint. And also, if we order at a certain date which was set by administrative convenience, we have amount constraint to order the consolidated order demands (capacity constraint). We showed this variant inventory policy is needed in steel industry and note that there will be possible similar case in industry. To deal with this case, we invented a variant replenishment policy and show this policy is superior to other possible polices in the consolidation constraint case by extensive simulation. And we derive a combined solution method for dealing with the capacity constraints in addition to the consolidation constraints. For this, we suggest a combined solution method of integer programming and simulation.