Song, Ari;Lee, Jin Sung;Im, Minji;Park, Hyung Doo;Cho, Sung Yoon;Jin, Dong-Kyu
Journal of The Korean Society of Inherited Metabolic disease
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v.18
no.2
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pp.62-67
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2018
Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.
In recent years, significant importance has been given to chitooligosaccharides (COS) due to its potent notable biological applications. COS can be derived from chitosan which is commonly produced by partially hydrolyzed products from crustacean shells. In order to produce COS, there are several approaches including chemical and enzymatic methods which are the two most common choices. In this regard, several new methods were intended to be promoted which use the enzymatic hydrolysis with a lower cost and desired properties. Hence, the dual reactor system has gained more attention than other newly developed technologies. Enzymatic hydrolysis derived COS possesses important biological activities such as anticancer, antioxidant, anti-hypersentive, anti-dementia (Altzheimer's disease), anti-diabeties, anti-allergy, anti-inflammatory, etc. Results strongly suggest that properties of COS can be potential materials for nutraceutical, pharmaceutical, and cosmeceutical product development.
Yu, Ju Hyeong;Yeo, Joo Ho;Choi, Min Yeong;Lee, Jae Won;Geum, Na Gyeong;An, Mi-Yun;Jeong, Jin Boo
Korean Journal of Plant Resources
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v.35
no.4
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pp.417-427
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2022
In this study, we investigated in vitro immuno-stimulatory and anti-obesity activity of fruit (LIF), leaves (LIL) and stems (LIS) from Lonicera insularis Nakai in mouse macrophages RAW264.7 cells and mouse pre-adipocytes 3T3-L1 cells. LIF, LIL and LIS increased the production of immunostimulatory factors such as nitric oxide (NO), inducible nitric oxide synthase (iNOS), interleukin-1β (IL-1β), cyclooxygenase-2 (COX-2), tumor necrosis factor-α (TNF-α) and activated phagocytosis in RAW264.7 cells. Inhibition of toll-like receptor 2/4 (TLR2/4) partly blocked LIF, LIL and LIS mediated production of immunostimulatory factors. In addition, inhibition of mitogen-activated protein kinases (MAPK) signaling attenuated the production of immunostimulatory factors induced by LIF, LIL and LIS. Based on these results of this study, LIF, LIL and LIS is thought to activate macrophages the production of immunostimulatory factors and phagocytosis through toll-like receptor 2/4 (TLR2/4) and MAPKs signaling pathway. In anti-obesity study, LIF reduced the lipid accumulation in 3T3-L1 cells. LIF increased the protein phosphorylation expressions such as AMP-activated protein kinase (AMPK), hormone sensitive lipase (HSL), adipose triglyceride lipase (ATGL) related to the lipolysis of the adipocytes. In addition, LIF increased the expression of proteins involved in energy metabolism and brown adipose tissues differentiation such as peroxisome proliferator-activated receptor gamma coativator 1α (PGC-1α) and PR domain-containing16 (PRDM16). These results suggest that LIF is involved in lipid accumulation inhibition through expressing the proteins such as lipolysis and differentiation of white adipocytes to brown adipocytes.
Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
Journal of The Korean Society of Inherited Metabolic disease
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v.22
no.2
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pp.58-62
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2022
Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.
This thesis is a study of the rise and the characteristic of 'Hyangto Gakeuk(literally Song drama of the country or local music drama)' in the Early 1940s. During the colonial period, there were attempts to incorporate traditional Korean music elements with Western operatic form. This type of music drama with librettos based on traditional tales came to be known as 'Hyangto Gakeuk'. Mostly 'Hyangto Gakeuk' has led this effort under the director Seo Hang-Suk, the composer Ahn Ki-Young and the lyricist Seol Eui-sik. In the first chapter, the study aims at arranging the performance history of 'Hyangto Gakeuk' composed by Ahn Ki-Young. Also, the study examined representative works after classifying 'Hyangto Gakeuk' performed by Lamila Music Drama Troupe, and Bando Music Drama Troupe. There is significant meaning to evaluate 'Hyangto Gakeuk' in the history of Korean music drama through this analysis of the performance history. In the second chapter, I will analyze with representative works composed by Ahn Ki-Young, a pioneer in the Korean art song. He tried to create the music that held the nationalism and tradition. His works which were called 'Kageuk' laid down the foundation of Korean original operatic style. This study demonstrated characteristics of 'Hyangto Gakeuk' as 'the beginning' in modern musical drama history and its effects on Korean musical drama developments. Namely, 'Hyangto Gakeuk' based on Korean traditions can be seen as examples of original modern musical in Korea. Practically, study on all the aspects of performance not only text generally studied, dramaturgy and criticism, but also performance concept and intention of creators in early period.
The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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v.12
no.4
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pp.380-389
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2007
Stable carbon and nitrogen isotopes were analyzed in suspended particulate organic matter, macroalgae and macrobenthic invertebrates in order to determine the importance of primary organic matter sources in supporting food webs of rocky subtidal and intertidal macroalgal beds in the Korean coasts. Investigations were conducted at the inter tidal sites within Gwangyang bay, a semi-enclosed and eutrophicated bay, and the subtidal sites of the east coast, a relatively oligotrophic and open environment, in May and June 2005. Water-column suspension feeders showed more negative $\delta^{13}C$ values than those of the other feeding guilds, indicating trophic linkage with phytoplankton and thereby association with pelagic food chains. In contrast, animals of the other feeding guilds, including interface suspension feeders, herbivores, deposit feeders, omnivores and predators, displayed relatively less negative $\delta^{13}C$ values than those of the water-column suspension feeders and similar with that of macroalgae, indicating exclusive use of macroalgae-derived organic matter and association with benthic food chains. Most the macrobenthic species were considered to form strong trophic links with benthic food chains. In addition, the distribution of higher $\delta^{15}N$ values in macrobenthic consumers and macroalgae at the intertidal sites of Gwangyang Bay than those at the subtidal sites of the east coast suggests that anthropogenic nutrients may enhance the macroalgal production at the intertidal sites and in turn be incorporated into the particular littoral food web in Gwangyag Bay. These results confirm the dominant role of macroalgae in supporting rocky subtidal and intertidal food webs in the Korean coasts.
Kim, Won-Gon;Lim, Cheong;Moon, Hyun-Jong;Chun, Eui-Kyung;Chi, Je-Geun;Won, Tae-Hee;Lee, Young-Tak;Chee, Hyun-Keun;Kim, Jun-Woo
Journal of Chest Surgery
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v.30
no.5
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pp.471-478
/
1997
Introduction: The use of rabbits as a cardiopulmonary bypass(CPB) animal model is extremely dif%cult mainly due to technical problems. On the other hand, deep hypothermic circulatory arrest(CA) is used to facilitate surgical repair in a variety of cardiac diseases. Although steroids are generally known to be effective in the treatment of cerebral edema, the protective effects of steroids on the brain during CA are not conclusively established. Objectives of this study are twofold: the establishment of CPB technique in rabbits and the evaluation of preventive effect of steroid on the development of brain edema during CA. Material '||'&'||' Methods: Fifteen New Zealan white rabbits(average body weight 3.5kg) were divided into three experimental groups; control CA group(n=5), CA with Trendelenberg position group(n=5), and CA with Trendelenberg position + steroid(methylprednisolone 30 mglkg) administration group(n=5). After anesthetic induction and tracheostomy, a median sternotomy was performed. An aortic cannula(3.3mm) and a venous ncannula(14 Fr) were inserted, respectively in the ascending aorta and the right atrium. The CPB circuit consisted of a roller pump and a bubble oxygenator. Priming volume of the circuit was approximately 450m1 with 120" 150ml of blood. CPB was initiated at a flow rate of 80~85ml/kg/min, Ten min after the start of CPB, CA was established with duration of 40min at $20^{\circ}C$ of rectal temperature. After CA, CPB was restarted with 20min period of rewarming. Ten min after weaning, the animal was sacrif;cod. One-to-2g portions of the following tissues were rapidly d:ssected and water contents were examined and compared among gr ups: brain, cervical spinal cord, kidney, duodenum, lung, heart, liver, spleen, pancreas. stomach. Statistical significances were analyzed by Kruskal-Wallis nonparametric test. Results: CPB with CA was successfully performed in all cases. Flow rate of 60-100 mlfkgfmin was able to be maintained throughout CPB. During CPB, no significant metabolic acidosis was detected and aortic pressure ranged between 35-55 mmHg. After weaning from CPB, all hearts resumed normal beating spontaneously. There were no statistically significant differences in the water contents of tissues including brain among the three experimental groups. Conclusion: These results indicate (1) CPB can be reliably administered in rabbits if proper technique is used, (2) the effect of steroid on the protection of brain edema related to Trendelenburg position during CA is not established within the scope of this experiment.
Purpose : One of the most difficult problems in the care of children with nephrotic syndrome remains the occurrence of relapses, despite initial response to steroids. Constantinescu reported that rapidity of initial response to steroid therapy could predict fewer relapses in the first year. So we evaluated the changes in serum lipid abnormalities in children with corticosensitive nephrotic syndrome before steroid treatment and the correlation between serum lipid levels and renal function, days to remission. Methods . We analyzed the Medical records of children who were managed by us between October 1994 and August 2000. In 33 patients with corticosensitive nephrotic syndrome, we evaluated the correlation between serum lipid levels and renal function [Creatinine clearance(Ccr)] and proteinuria before steroid treatment, and days to remission defined as the third day when the patient's urine becomes protein free. Results : There were 21 males and 12 females. Median age at presentation was 6.4 years (range: 1.8-17.3 years). Median days to remission were 15.4 days (range 4-42 days) on Prednisolone $60mg/m^2$ daily. The increased levels of triglyceride, total cholesterol, LDL cholesterol, apolipoprotein B, total cholesterol/HDL cholesterol, Lipoprotein(a) were observed. But the level of HDL cholesterol was not increased. Serum albumin was decreased a]id proteinuria was increased before steroid treatment. But Ccr was not decreased. There were negative correlation between serum albumin and total cholesterol (r = -0.5157, P<0.005), LDL cholesterol (r = -0.5543, P<0.005), total cholesterol/HDL cholesterol (r = -0.4506, P<0.01), lipoprotein(a) (r = -0.4570, P<0.025), apolipoprotein B (r = -0.5297, P<0.025), apolipoprotein B/apolipoprotein Al (r = -0.5851, P<0.01), apolipoprotein B/HDL cholesterol (r = -0.4961, P<0.05) before steroid treatment. There was no correlation between proteinuria and serum lipid profiles. Also Ccr and serum lipid profiles were not correlated. There was positive correlation between days to remission and HDL cholesterol (r = +0.4511, P<0.05), apolipoprotein B (r = +0.5190, P<0.05), apolipoprotein B/HDL cholesterol (r = +0.7169, P<0.005). Conclusions : This results reveal that HDL cholesterol, apolipoprotein B and apolipoprotein B/HDL cholesterol can be used as a predictive factor in corticosensitive nephrotic syndrome. We could not determine the significant level of these lipids for insufficient patients number, but these level may predict future relapses of corticosensitive nephrotic syndrome patients and thus may allow to better management and treatment protocols. More data and long term follow up studies should be needed. (J Korean Soc Pediatr Nephrol 2001;5 : 136-46)
Background : Vitamin C has been reported to have a role in the decrease of airway hyperresponsiveness in animal models. This data is based on some metabolic actions of vitamin C, such as promotion of histamine degradation, producing more $PGE_2$ than $PGF_{2\alpha}$ in cyclooxygenase pathway, decrease of smooth muscle contraction, and acting as reducing agent of oxidant. It has been also known that heavy smokers have lower blood levels of vitamin C than nonsmokers and this deficiency in heavy smokers have been explained by several mechanisms, such as increased oxidation by oxidants and free radicals, increased biosynthesis of catecholamine and serotonin released by nicotine, and inadequate dietary intake. In this study, We attempted to assess effect of vitamin C on bronchial hyperresponsiveness in heavy smokers who have bronchial hyperresponsiveness and role of vitamin C on bronchial hyperresponsiveness. Method: To assess acute effect of vitamin C on airway hyperresponsiveness, blood sample for vitamin C level and spirometry, methacholine challenge test were done in 17 smokers and 8 nonsmokers, and one hour after oral administration of vitamin C 3 g, blood sample for vitamin C level and spirometry, methacholine challenge test were repeated. To assess chronic effect of vitamin C on airway hyperresponsiveness, after daily administration of vitamin C 1 g for one week in 17 smokers, blood sample for vitamin C level and spirometry, methacholine challenge test were done. To assess role of vitamin C, after oral administration of vitamin C 3 g plus indomethacin 100 mg in 12 of 15 smokers who were reactive to methacholine challenge test, spirometry and methacholine challenge test were done and after oral intake of indomethacin 100 mg in 12 smokers who were reactive to methacholine challenge test, spirometry and methacholine challenge test were repeated. Result: There were no significant differences in whole blood vitamin C levels between smokers($1.17{\pm}0.22$ mg/dL) and nonsmcikers($1.14{\pm}0.19$ mg/dL) (p>0.05). Fifteen of the 17 smokers(88.2%) were reactive to methacholine challenge test and 10 of the 15 smokers who were reactive to methacholine challenge test were less than 8 mg/dL in $PC_{20}FEV-2$, and 7 of the 8 nonsmokers(87.5%) were nonreactive to methacholine challenge test There were significant decrease in bronchial responsiveness after oral administration of vitamin C 3 g in 13 of the 15 smokers who were reactive to methacholine challenge test This significant decrease persisted with maintenance daily administration of 1 g for one week. $PC_{20}FEV-2$ were not correlated to vitamin C levels in smokers. After oral administration of indomethacin 100 mg, significant reduction of bronchial responsiveness that occured after oral administration of vitamin C 3 g in smokers were attenuated. Conclusion: Although there were no significant differences in whole blood vitamin C levels between smokers and nonsmokers. heavy smokers have significant increase in bronchial responsiveness than nonsmokers. This bronchial hyperresponsiveness of heavy smokers can be attenuated by vitamin C supplement. Disappearance of vitamin C effect by indomethacin supplement may suggest that vitamin C exert its effect via alteration of arachidonic acid metabolism.
Background: The dysfunction of multiple organs is found to be caused by reactive oxygen species as a major modulator of microvascular injury after hemorrhagic shock. Hemorrhagic shock, one of many causes inducing acute lung injury, is associated with increase in alveolocapillary permeability and characterized by edema, neutrophil infiltration, and hemorrhage in the interstitial and alveolar space. Aggressive and rapid fluid resuscitation potentially might increased the risk of pulmonary dysfunction by the interstitial edema. Therefore, in order to improve the pulmonary dysfunction induced by hemorrhagic shock, the present study was attempted to investigate how to reduce the inflammatory responses and edema in lung. Material and Method: Male Sprague-Dawley rats, weight 300 to 350 gm were anesthetized with ketamine(7 mg/kg) intramuscular Hemorrhagic Shock(HS) was induced by withdrawal of 3 mL/100 g over 10 min. through right jugular vein. Mean arterial pressure was then maintained at $35{\sim}40$ mmHg by further blood withdrawal. At 60 min. after HS, the shed blood and Ringer's solution or 5% albumin was infused to restore mean carotid arterial pressure over 80 mmHg. Rats were divided into three groups according to rectal temperature level($37^{\circ}C$[normothermia] vs $33^{\circ}C$[mild hypothermia]) and resuscitation fluid(lactate Ringer's solution vs 5% albumin solution). Group I consisted of rats with the normothermia and lactate Ringer's solution infusion. Group II consisted of rats with the systemic hypothermia and lactate Ringer's solution infusion. Group III consisted of rats with the systemic hypothermia and 5% albumin solution infusion. Hemodynamic parameters(heart rate, mean carotid arterial pressure), metabolism, and pulmonary tissue damage were observed for 4 hours. Result: In all experimental groups including 6 rats in group I, totally 26 rats were alive in 3rd stage. However, bleeding volume of group I in first stage was $3.2{\pm}0.5$ mL/100 g less than those of group II($3.9{\pm}0.8$ mL/100 g) and group III($4.1{\pm}0.7$ mL/100 g). Fluid volume infused in 2nd stage was $28.6{\pm}6.0$ mL(group I), $20.6{\pm}4.0$ mL(group II) and $14.7{\pm}2.7$ mL(group III), retrospectively in which there was statistically a significance between all groups(p<0.05). Plasma potassium level was markedly elevated in comparison with other groups(II and III), whereas glucose level was obviously reduced in 2nd stage of group I. Level of interleukine-8 in group I was obviously higher than that of group II or III(p<0.05). They were $1.834{\pm}437$ pg/mL(group I), $1,006{\pm}532$ pg/mL(group II), and $764{\pm}302$ pg/mL(group III), retrospectively. In histologic score, the score of group III($1.6{\pm}0.6$) was significantly lower than that of group I($2.8{\pm}1.2$)(p<0.05). Conclusion: In pressure-controlled hemorrhagic shock model, it is suggested that hypothermia might inhibit the direct damage of ischemic tissue through reduction of basic metabolic rate in shock state compared to normothermia. It seems that hypothermia should be benefit to recovery pulmonary function by reducing replaced fluid volume, inhibiting anti-inflammatory agent(IL-8) and leukocyte infiltration in state of ischemia-reperfusion injury. However, if is considered that other changes in pulmonary damage and inflammatory responses might induce by not only kinds of fluid solutions but also hypothermia, and that the detailed evaluation should be study.
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