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A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.20-25
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    • 2019
  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

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Establishment of Geospatial Schemes Based on Topo-Climatology for Farm-Specific Agrometeorological Information (농장맞춤형 농업기상정보 생산을 위한 소기후 모형 구축)

  • Kim, Dae-Jun;Kim, Soo-Ock;Kim, Jin-Hee;Yun, Eun-Jeong
    • Korean Journal of Agricultural and Forest Meteorology
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    • v.21 no.3
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    • pp.146-157
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    • 2019
  • One of the most distinctive features of the South Korean rural environment is that the variation of weather or climate is large even within a small area due to complex terrains. The Geospatial Schemes based on Topo-Climatology (GSTP) was developed to simulate such variations effectively. In the present study, we reviewed the progress of the geospatial schemes for production of farm-scale agricultural weather data. Efforts have been made to improve the GSTP since 2000s. The schemes were used to provide climate information based on the current normal year and future climate scenarios at a landscape scale. The digital climate maps for the normal year include the maps of the monthly minimum temperature, maximum temperature, precipitation, and solar radiation in the past 30 years at 30 m or 270 m spatial resolution. Based on these digital climate maps, future climate change scenario maps were also produced at the high spatial resolution. These maps have been used for climate change impact assessment at the field scale by reprocessing them and transforming them into various forms. In the 2010s, the GSTP model was used to produce information for farm-specific weather conditions and weather forecast data on a landscape scale. The microclimate models of which the GSTP model consists have been improved to provide detailed weather condition data based on daily weather observation data in recent development. Using such daily data, the Early warning service for agrometeorological hazard has been developed to provide weather forecasts in real-time by processing a digital forecast and mid-term weather forecast data (KMA) at 30 m spatial resolution. Currently, daily minimum temperature, maximum temperature, precipitation, solar radiation quantity, and the duration of sunshine are forecasted as detailed weather conditions and forecast information. Moreover, based on farm-specific past-current-future weather information, growth information for various crops and agrometeorological disaster forecasts have been produced.

Studies on the Early Development of the Mouse Embryo Transplanted in the Anterior Chamber of the Eye (眼前房내에 이식한 생쥐배의 초기발생에 관한 연구)

  • Cho, Wan Kyoo;Kim, Moon Kyoo
    • The Korean Journal of Zoology
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    • v.15 no.1
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    • pp.25-33
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    • 1972
  • Two-Cell mouse embryos were incubated in the anterior chamber of the rat eye, which has been known as the best place among other animals' for the mouse ovum maturation, in order to observe the capability of their early development. Within 120 hours after incubation, 71.0% of two-cell embryos have developed to the blastocysts in the male rat eye, while only 38.5% in the eye of the same mouse as donated two-cell embryos. Thus, the rat eye chamber provides more favourable environment to the embryos than the mouse itself. The results are consistent with those of the previous studies comparing the maturation of the mouse follicular oocytes in the mouse and the rat eye chamber. Although the aqueous humor which is filled in the anterior chamber of the eye is characterized by its specific properties, being of higher osmolarity, higher concentrations of ascorbic acid, pyruvate and lactate, but lower of proteins and lower temperature than those in blood or lymph serum, The embryos are able to under-take their cleavage as normal as in vivo or in vitro. Concerning with a number of studies in vitro on the development of the mouse embryos which are requiring a very limited condition, the fact that they are able to manage their further development under very different enviroment from our knowledges would provide us a moment to understand their behavior during the early development. The difference of the proportion of the developed blastocysts between in the mouse eye chamber and in the rat can possibly be resulted from the species specific difference in the physicochemical properties between their eye chambers. This assumption is based upon the findings by many investigators who chmpared the nature of the eye chamber of various animals. As a consequence, the rat eye chamber might consist of better properties for the embryonal growth than the mouse eye chamber. The mouse embryos cleaved with a delayed period. In normal development they complete almost the cleavage within 94 hours after fertilization. However, in the present studies, 81.1% of two-cell embryos developed to the blastocysts and the morula in 120 hours in the eye chamber, assumed to be about 154 hours after fertilization. Such delay in development would be caused mainly by the low temperature of the eye chamber. At present we can make two assumptions to explain the capability of the emtryonal development in the eye chambers. One is that the embryos would possess an ability to adapt themselves to the environment which provides unfavourable conditions. The other is that the embryos might remain for a certain duration in the eye chamber, which is filled with a new body fluid produced immediately after the loss of the aqueous humor and the fluid of which becomes similar to blood serum in component. The first assumption is highly reliable since the embryonal cells are mostly at the undifferentiated state and so they probably engage a simple metabolism during their early period. The second assumption is induced by the fact that the rabbit eye chamber produces a plasmoid humor which has mostly similar components to blood serum after loss of aqueous humor through cornea by puncturing. However, the plasmoid humor is substituted by the initial aqueous humor in eight hours. Even though this finding, production of the new fluid, could be applied to the rat eye, it is hardly reliabel that the plasmoid humor remains for such a long period as 120 hours. Consequently, the development of the embryos is more likely due to their adaptability to the new environment during their early developmental stages.

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A Study on Changes of Physico-Chemical Properties of Plow Layer Soil and its Response of Tobacco Growth under Poly Ethylene Film Mulching Condition. -1. Effect of Poly Ethylene Film Mulch on Changes of Soil Temperature and Soil Moisture Content in the Rhizosphere (연초피복재배(煙草被覆栽培)에서 작토시(作土尸)의 이화학성변화(理化學性變化)와 연초생장반응(煙草生長反應)에 관(關)한 연구(硏究) -1. 피복조건(被覆條件)이 근권(根圈)의 토양온도(土壤溫度)와 수분변화(水分變化)에 미치는 영향(影響))

  • Hong, Soon-Dal;Lee, Yun-Hwan;Kim, Jai-Joung;Cho, Seong-Jin
    • Korean Journal of Soil Science and Fertilizer
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    • v.18 no.1
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    • pp.20-26
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    • 1985
  • Under the field condition mulched by polyethylene film, changes of the soil moisture content and soil temperature due to the meteorological influence, which have had a great effect upon productivity of upland - field crop, was investigated. The results obtained were as follows; 1. During the early growth stage from the first part of April to the last part of May, soil temperature at 15cm below the mulched surface of ridge (13:00) was about $5^{\circ}C$ higher than that of non-mulched plot. 20 days earlier than normal soil temperature reached up to $20^{\circ}C$ due to the mulching. The increasing of soil temperature resulted from poly ethylene film mulching had a similar tendency for the annual experiment of 3 years (1982-1984). 2. Changes of the soil moisture content in the plow layer during the growing season was remarkably less in the mulched plot than in the non-mulched plot due to suppression of evaporation by polyethylene film. 3. Soil moisture contents of the plots planted with tobacco was lower than those of the non-planted plots owing to the more transpiration induced by growing of the tobacco plant. As the results, it was refered that initial fresh weight of above ground part of tobacco that had an influence upon the consumption of soil moisture by the transpiration rather than evaporation was about 250g per plant. 4. At the appreciable amount of rainfall (for instance; 63.5mm), soil moisture content at middle place between plants in the plow layer of the mulched plot was not increased owing to the infiltration interruption by polyethylene film. 5. By the comparatively small amount of rainfall (e.g. 20mm) after the drought period, leaf water potential of the mulched plot was not increased as much as that of the non-mulched plot owing to the less moisture content of soil resulted from interruption of rainfall.

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Accuracy evaluation of microwave water surface current meter for measurement angles in middle flow condition (전자파표면유속계의 측정 각도에 따른 평수기 유속 측정 정확도 분석)

  • Son, Geunsoo;Kim, Dongsu;Kim, Kyungdong;Kim, Jongmin
    • Journal of Korea Water Resources Association
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    • v.53 no.1
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    • pp.15-27
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    • 2020
  • Streamflow discharge as a fundamental riverine quantity plays a crucial role in water resources management, thereby requiring accurate in-situ measurement. Recent advances in instrumentations for the streamflow discharge measurement has complemented or substituted classical devices and methods. Among various potential methods, surface current meter using microwave has increasingly begun to be applied not only for flood but also normal flow discharge measurement, remotely and safely enabling practitioners to measure flow velocity postulating indirect contact. With minimized field preparedness, this method facilitated and eased flood discharge measurement in the difficult in-situ conditions such as extreme flood in active ways emitting 24.125 GHz microwave without relying on natural lights. In South Korea, a rectangular shaped instrument named with Microwave Water Surface Current Meter (MWSCM) has been developed and commercially released around 2010, in which domestic agencies charging on streamflow observation shed lights on this approach regarding it as a potential substitute. Considering this brand-new device highlighted for efficient flow measurement, however, there has been few noticeable efforts in systematic and comprehensive evaluation of its performance in various measurement and riverine conditions that lead to lack in imminent and widely spreading usages in practices. This study attempted to evaluate the MWSCM in terms of instrumen's monitoring configuration particularly regarding tilt and yaw angle. In the middle of pointing the measurement spot in a given cross-section, the observation campaign inevitably poses accuracy issues related with different tilt and yaw angles of the instrument, which can be a conventionally major source of errors for this type of instrument. Focusing on the perspective of instrument configuration, the instrument was tested in a controlled outdoor river channel located in KICT River Experiment Center with a fixed flow condition of around 1 m/s flow speed with steady flow supply, 6 m of channel width, and less than 1 m of shallow flow depth, where the detailed velocity measurements with SonTek micro-ADV was used for validation. As results, less than 15 degree in tilting angle generated much higher deviation, and higher yawing angle proportionally increased coefficient of variance. Yaw angles affected accuracy in terms of measurement area.

Monte-Carlo Simulations of Non-ergodic Solute Transport from Line Sources in Isotropic Mildly Heterogeneous Aquifers (불균질 등방 대수층 내 선형오염원으로부터 기원된 비에르고딕 용질 이동에 관한 몬테카를로 시뮬레이션)

  • Seo Byong-min
    • Journal of Soil and Groundwater Environment
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    • v.10 no.6
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    • pp.20-31
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    • 2005
  • Three dimensional Monte-Carlo simulations of non-ergodic transport of a lion-reactive solute plume by steady-state groundwater flow under a uniform mean velocity in isotropic heterogeneous aquifers were conducted. The log-normally distributed hydraulic conductivity, K(x), is modeled as a random field. Significant efforts are made to reduce tile simulation uncertainties. Ensemble averages of the second spatial moments of the plume and plume centroid variances were simulated with 1600 Monte Carlo runs for three variances of log K, ${\sigma}_Y^2=0.09,\;0.23$, and 0.46, and three dimensionless lengths of line plume sources normal to the mean velocity. The simulated second spatial moment and the plume centroid variance in longitudinal direction fit well to the first order theoretical results while the simulated transverse moments are generally larger than the first order results. The first order theoretical results significantly underestimated the simulated dimensionless transverse moments for the aquifers of large ${\sigma}_Y^2$ and large dimensionless time. The ergodic condition for the second spatial moments is far from reaching in all cases simulated, and transport In transverse directions may reach ergodic condition much slower than that in longitudinal direction. The evolution of the contaminant transported in a heterogeneous aquifer is not affected by the shape of the initial plume but affected mainly by the degree of the heterogeneity and the size of the initial plume.

Preparation of Soluble Dietary Fiber from Oak Wood (Quercus Mongolica) and Its Physiological Function in Rat Fed High Cholesterol Diets (참나무 (Quercus Mongolica)로부터 수용성 식이섬유소의 제조 및 기능성 검증)

  • 채영미;임부국;이종윤;김영희;이순재
    • Journal of Nutrition and Health
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    • v.36 no.1
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    • pp.9-17
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    • 2003
  • The preparation method of a soluble dietary fiber from oak wood (Quercus mongolica) and the effect of the soluble dietary fiber on physiological function in rat fed high cholesterol diets was investigated. The best condition for steam explosion method was 25 kgf/㎤ pressure for 6 min. The exploded samples were delignified by the filtration treatment with 1% NaOH for several times, which is the best condition. The enzymatic hydrolysis of Cellusoft cellulase was more effective than Onozuka R-10 cellulase. The manufactured soluble dietary fiber was assayed using gel permeation chromatography (GPC) and it was dissolved in water. Average molecular weight distribution of manufactured soluble dietary fiber was about 348-1,200 and it was assumed the oligomer form fraction. In order to compare the manufactured soluble dietary fiber with commercial soluble dietary fiber (pectin) on the physiological function, Sprague-Dawley male rats weighing 100$\pm$10 g were randomly assigned to one normal diet and five high cholesterol diet containing 1% cholesterol. The high cholesterol diet groups were classified to fiber free diet (FF group), 5% pectin (5P group), 10% pectin (l0P group), 5% manufactured soluble dietary fiber (5M group) and 10% manufactured soluble dietary fiber (10M group). Body weight gains in all soluble dietary fiber groups were lower than FF group. Food intakes were increased in all soluble dietary fiber groups than that of FF group. Food efficiency ratio (FER) was significantly decreased in all soluble dietary fiber groups than that of the FF group, and it was especially was highest in 10% supplemented soluble dietary fiber group. The weight of liver of the soluble dietary fiber supplemented groups were lower than those of the FF group, but weights of cecum and small intestine of all supplemented soluble dietary fiber groups were significantly increased, compared with that of FF group. The weights and water contents in feces were significantly increased by the soluble dietary fiber. The activity of the glutamic oxaloacetic transaminase in soluble dietary fiber groups were significantly decreased than those of FF group. The hepatic glutathione S-transferase activity in all soluble dietary fiber supplemented groups were higher than that of FF group. The physiological effects of the manufactured soluble dietary fiber are the same as the commercial soluble dietary fiber (pectin). The preparation method of the soluble dietary fiber from the oak chips suited to its purpose. (Korean J Nutrition 36(1) : 9~17, 2003)

Effects of Packaging Materials and Storage Temperature on the Shelf-life of Korean Grinded Yam (포장재료와 보관온도에 따른 갈은 마의 저장수명 및 품질변화에 관한 연구)

  • Ko, Eui Suk;Won, Jong Hwa;Jin, Hyung Seok;Song, Kihyeon;Jeon, Kyu Bae;Kim, Jai Neung
    • KOREAN JOURNAL OF PACKAGING SCIENCE & TECHNOLOGY
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    • v.20 no.3
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    • pp.103-111
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    • 2014
  • This study analyzed effects of packaging materials and storage temperature on the shelf-life of Korean grinded yam. For experimental measurement, experimental groups were used $PET(12{\mu}m)/Al(9{\mu}m)/LLDPE(60{\mu}m)$ as opaque barrier packaging material and $PET(12{\mu}m)/PE(20{\mu}m)/VM-PET(12{\mu}m)/PE(25{\mu}m$) and barrier $NY(15{\mu}m)/LLDPE(60{\mu}m$) as transparent barrier packaging material. Control group were used normal $NY(15{\mu}m)/LLDPE(65{\mu}m)$. The grinded yam stored at refrigeration temperature ($5^{\circ}C$) and room temperature ($20^{\circ}C$C) for 8 days. Changes in color, pH, viscosity, microorganisms and sensory characteristics were measured. In the grinded yam L and ${\Delta}E$ value were not changed rapidly at refrigeration temperature. However L and ${\Delta}E$ were rapidly changed in all of packaging materials at room temperature. In two temperature condition, pH and viscosity were decreased during storage but pH was increased at $5^{\circ}C$ after 4 days. PET/Al/LLDPE and PET/PE/VM-PET/PE inhibited the growth of microorganisms effectively. PET/AL/LLDPE which is a high barrier packaging material showed the best in two temperature condition.

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Effects of Growth and Cellular Tissue under Abnormal Climate Condition in Chinese Cabbage (이상기상 조건이 배추의 생육 및 세포조직에 미치는 영향)

  • Lee, Sang Gyu;Choi, Chang Sun;Choi, Jun Myung;Lee, Hee Ju;Park, Suhyoung;Do, Kyung Ran
    • Journal of Bio-Environment Control
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    • v.22 no.2
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    • pp.87-90
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    • 2013
  • The average annual and winter ambient air temperatures in Korea have risen by $0.7^{\circ}C$ and $1.4^{\circ}C$, respectively, during the last 30 years. Due to climate change, the occurrence of abnormal weather conditions has become more frequent, causing damage to vegetable crops grown in Korea. Hot pepper, chinese cabbage and radish, the three most popular vegetables in Korea, are produced more in the field than in the greenhouse. It has been a trend that the time for field transplanting of seedlings is getting earlier and earlier as the spring temperatures keep rising. Seedlings transplanted too early in the spring take a longer time to resume the normal growth, because they are exposed to suboptimal temperature conditions. This experiment was carried out to figure out the change of cellular tissue of chinese cabbage under the condition of low temperature to provide the information regarding the coming climatic change, on the performance of 'Chunkwang' chinese cabbage during the spring growing season. In our study, plant height, number of leaf, chlorophyll and leaf area was lower at the open field cultivation than heating house treatment after transplanting 50 days. Especially in fresh weight, compared with heating treatment, open field and not heated treatment were notably low with the 1/3 level. Of damage symptoms due to low temperature cabbage leaves about 10 sheets when $-3.0^{\circ}C$ conditions in chinese cabbage was a little bit of water soaking symptoms on the leaves. $-7.4^{\circ}C$ under increasingly severe water soaking symptoms of leaf turns yellow was dry. Microscopy results showed symptoms of $-3.0^{\circ}C$ when the mesophyll cell of palisade tissue and spongy tissue collapse, $-7.4^{\circ}C$ palisade tissue and spongy tissue was completely collapsed. The result of this study suggests that the growers should be cautioned not to transplant their chinese cabbage seedlings too early into the field, and should be re-transplanting or transplanting other plants if chinese cabbage are exposed to suboptimal temperature conditions ($-3.0^{\circ}C$ or $-7.4^{\circ}C$).

Changes of Oxidative Enzymes and Fatty Acid Composition of Bifidobacterium adolescentis and B. longum under Anaerobic and Aerated Conditions. (산소의 Stress에 따른 Bifidobacterium adolescentis와 Bifidobacterium longum의 산화효소의 활성과 세포 지방산 조성의 변화)

  • 신순영;박종현
    • Microbiology and Biotechnology Letters
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    • v.26 no.1
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    • pp.7-14
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    • 1998
  • To study the oxygen tolerance mechanism of bifidobacteria, we have studied the growth of cells, the activities of the enzymes which were related with oxygen, such as catalase, superoxide dismutase(SOD), NADH oxidase, and NADH peroxidase, and cellular fatty acid compositions of Bifidobacterium adolescentis and B. longum under anaerobic and aerated (microaerobic and aerobic) conditions. B. longum grew relatively well under the microaerobic conditions, whereas the growth of B. adolescentis was inhibited under the same aerated conditions. B. adolescentis had extremely low level of NADH oxidative enzymes while B. longum had the relatively high level of NADH oxidative enzymes, whose activities were dramatically increased from 3.7 to 11.4 times by microaerobic condition but not in B. adolescentis. The activity of SOD was unexpectedly high in B. adolescentis compared with in B. longum under anaerobic and aerated conditions. The activities of catalase were not detected in all samples tested in this study. We also found that normal $C_{l6:0}$ and $C_{18:1}$ were the major fatty acids in B. adolescentis and B. longum under anaerobic and aerated conditions. 2.2-14.1% $C_{l9:0}$ cyclo fatty acid was detected only in B. longum and the fatty acid was increased by the addition of the aeration. The $C_{l9:0}$ cyclic fatty acid was identified as a cis 9, 10-methylene octadecanoic acid, which was different from lactobacillic acid in the cyclized site. 6.6%-24.6% of dimethyl acetals (DMA) which came from plasmalogen were observed in the B. adolescentis and B. longum grown under anaerobic condition, and the components were notably decreased in the cells grown under the aerated conditions. It is believed that NADH oxidative enzymes play an important role to detoxify oxygen metabolites of Bifidobacteriurn spp. under anaerobic and microaerobic conditions. Independently from oxidative enzymes, it seems that oxygen stress may induce the change of the level of cellular fatty acids showing an increase of $C_{l9:0}$ cyclo in B. longum and a decrease of $C_{l8:1}$ of plasmalogen in B. longum and B. adolescentis to adapt in environment.

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