• Title/Summary/Keyword: Rare

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Comparison of Clinical Features of 11 Korean Patients with Mucolipidosis II and III Including a Case of Mucolipidosis II with a Novel Mutation of GNPTAB (새로운 GNPTAB 유전자 돌연변이로 진단된 뮤코지방증 2형 1례를 포함한 국내 뮤코지방증 환자의 임상적 특징에 대한 분석)

  • Kim, Jinsup;Yang, Misun;Yang, Aram;Cho, Eun Hye;Park, Hyung-Doo;Sohn, Young Bae;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.85-91
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    • 2017
  • Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.

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Phytoplankton Community Change of Lake Paldang by Increasing $CO_2$ and Temperature during Spring Cold Water Season ($CO_2$와 수온 증가에 대한 봄철 저수온기 팔당호 식물플랑크톤군집 변화)

  • Lee, Ka-Ram;Sung, Eun-Ju;Park, Hye-Jin;Park, Chae-Hong;Park, Myung-Hwan;Hwang, Soon-Jin
    • Korean Journal of Ecology and Environment
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    • v.46 no.4
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    • pp.588-595
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    • 2013
  • This study investigated the influence of temperature and $CO_2$ increase on phytoplankton growth and community structure during cold water season (spring) in Lake Paldang, Korea. Four experimental treatments of temperature and $CO_2$ manipulation were prepared in the laboratory batch culture: (1) Control; ambient low temperature ($6{\pm}2^{\circ}C$) and low $CO_2$ (air level, $400mgL^{-1}$), (2) T1; low temperature and high $CO_2$ ($800mgL^{-1}$), (3) T2; high temperature ($20{\pm}2^{\circ}C$) and low $CO_2$, (4) T3; high temperature and high $CO_2$. Algal growth experiment was carried out for 10 days under the light intensity of $70{\mu}mol\;m^{-2}s^{-1}$ (L :D=24 : 0). The level of pH decreased in both T1 and T3, due to dissolution of added $CO_2$. The dominant phytoplankton species of ambient water, Cyclotella meneghiniana succeeded to Fragilaria capucina var. gracilis in high-temperature treatment groups (T2 and T3). Cyanobacteria were very rare at the beginning of the experiment, while Oscillatoria limnetica appeared in only high-temperature groups (T2 and T3) at $6{\sim}7^{th}$ day. $CO_2$ addition in ambient temperature (T1) induced the highest phytoplankton growth, and thereby producing the highest average cell density of $3.27{\pm}0.33\;10^4\;cells\;mL^{-1}$, followed by T2 ($2.65{\pm}0.26\;10^4\;cells\;mL^{-1}$), T3 ($2.09{\pm}0.16\;10^4\;cells\;mL^{-1}$), and Control ($1.86{\pm}0.13\;10^4\;cells\;mL^{-1}$) (F=7.167, p=0.000). In summary, temperature increase changed the phytoplankton community structure and $CO_2$ increase promoted the phytoplankton growth during the cold spring season in Lake Paldang, suggesting a potential effect of climate change on freshwater phytoplankton.

Analysis of Hemolytic Microflora from the Ark Shell (Scapharca broughtonii) (패류(Scapharca broughtonii) 유래의 용혈활성 미생물 다양성 분석)

  • Kim, Dong-Gyun;Nam, Bo-Hye;Kong, Hee-Jeong;Kim, Woo-Jin;Kim, Bong-Seok;Jee, Young-Ju;Lee, Sang-Jun;Jung, Choon-Goo;Kong, Mi-Sun;Kim, Young-Ok
    • Journal of Life Science
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    • v.22 no.5
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    • pp.642-649
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    • 2012
  • The southern coast of Korea is important for the ark shell ($Scapharca$ $broughtonii$) aquaculture, but the productivity was rapidly reduced during the previous decade by mass mortality. To overcome this economic loss, investigations only focused on environmental factors, and microbiological researches were performed insufficiently. In this study, two sites (Gangjin and Jinhae bay) were selected for their high and low rate of mortality, respectively, and the existence of microflora from underwater sediments in the bodies of $S.$ $broughtonii$ was analyzed. We screened the whole body of each sample and chose unique colonies, which exhibit alpha- and beta-hemolytic activity, for identification. The microflora in $S.$ $broughtonii$ was less variable than sediments, and restricted species were isolated. We identified 17 genera of 88 species and 16 genera of 64 species from the two bays, respectively. A major proportion was comprised of $Bacillus$ species, with the $Bacillus$ $cereus$ group being the most common species among the $Bacillus$ strains, while $Paenibacillus$, $Lynsilbacillus$, and $Vibrio$ species were the second most abundant species. At the genus level, there were no significant microbial differences between the two coastal regions. 64 species were isolated from rare site (Jinhae bay), but more species (88) with greater variety were isolated from the frequent site (Gangjin bay). Therefore, it was assumed that the cause of mass mortality lay in the difference in specie-level diversity, and conducting investigations on the diagnosis of pathogenic species by challenging tests using isolated unique species.

A Study on Vegetation Structure and Soil Condition of $Bletilla$ $striata$ Population (자란($Bletilla$ $striata$) 개체군의 식생구조와 토양특성)

  • So, Soon-Ku;Song, Ho-Kyung
    • Korean Journal of Environment and Ecology
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    • v.26 no.2
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    • pp.210-218
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    • 2012
  • This study was carried out to analyze the vegetation properties, soil characteristics and ordination of Bletilla striata population in South Korea. The $Bletilla$ $striata$ population was classified into $Juniperus$ $rigida$ dominant population, $Rhododendron$ $yedoense$ var. $poukhanense$ dominant population, $Rhus$ $javanica$ dominant population, $Bletilla$ $striata$ typical population. $Bletilla$ $striata$ were mainly distributed along the coast of south-western regions of the Korean penninsula and it's population was located at an elevation of 4m to 40m. In the study sites, soil organic matter, total nitrogen, available phosphate, exchangeable potassium, exchangeable calcium, exchangeable magnesium, cation exchange capacity and soil pH were 2.38-6.70%, 0.09-0.27%, 1.81-6.85mg/kg, 1.08-1.72$cmol^+/kg$, 3.56-7.71$cmol^+/kg$, 1.52-3.21$cmol^+/kg$, 5.28-16.95$cmol^+/kg$ and 4.60-6.01 respectively. $Rhododendron$ $yedoense$ var. $poukhanense$ dominant population was found in the steep sloped area that has high percentage of organic matter, total nitrogen, cation exchange capacity and pH than other populations. $Rhus$ $javanica$ dominant population was found in the gentle sloped area that has less percentage of organic matter, total nitrogen, cation exchange capacity and pH. $Juniperus$ $rigida$ dominant population and $Bletilla$ $striata$ typical population were found in the medium sloped area that has medium percentage of organic matter, total nitrogen, cation exchange capacity and pH. Current status of $Bletilla$ $striata$ habitats is very vulnerable with local development constantly threatening the species' survival. Thus, concrete conservation plans to protect natural habitats should be set up as soon as possible.

REE(rare earth element) contents for the Korean ginsengs from three different soils (3 토양에서 채취된 고려 인삼의 희토류 원소 함량)

  • Song, Suck-Hwan;Min, Ell-Sik;Chan, Song-Chae
    • Journal of Ginseng Research
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    • v.32 no.4
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    • pp.357-381
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    • 2008
  • REEs of ginsengs(2, 3, 4 years) from the granite, phyllite and shale areas, Keumsan, are analysed and compared with the their soils. In the weathered soils, high element contents are shown in the LREE of the granite and in the HREE of the phyllite. The granite dominantly show positive correlation relationships. In the field soils, the phyllite are high while the granite are low. Relationships of the contents and correlation relationships can be explained with mineral assemblages and contents within soils, and their solubilities. In the host rocks, high contents are found in the LREE of the granite and HREE of the phyllite. The rocks dominantly show positive relationships. In the ginseng, high contents are shown in the 2 year for the shale and granite, and the 4 year for the phyllite. Element pairs mainly show positive relationships. Comparing of the same ages, the granite are mainly high. In the ratios between the soils and the ginsengs, differences of the several hundred to ten times are found, but dominantly, of the several hundred times in the shale and phyllite, and of the several ten times in the granite. The differences are big in the 3 year, and small in all REE of the 2 year from the shale and granite. while, in the phyllite, big in the LREE of the 2 year and HREE of the 3 year. Based on the absorption of the leachate by the ginsengs within soils, contents and correlation relationships of the ginsengs from the different soils can be explained with mineral assemblages, solubilities of the constitutional minerals and phyio-chemical affects influenced on the solubility. Of the three different soils, the ginsengs of the granites are chemically more similar to their soils.

Petrochemistry and Geologic Structure of Icheon Granitic Gneiss around Samcheog Area, Korea (삼척지역 이천화강편마암의 암석화학과 지질구조)

  • Cheong Won-Seok;Cheong Sang-Won;Na Ki-Chang
    • The Journal of the Petrological Society of Korea
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    • v.15 no.1 s.43
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    • pp.25-38
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    • 2006
  • Metamophic rocks of Samcheog area, northeastern Yeongnam massif, was studied petrochemically. This area includes Precambrian Hosanri Formation (schists and gneisses) and granitoid (Icheon granitic gneiss, leucocratic granite and Hongjesa granite), Cambrian sedimentary rocks, and Cretaceous sedimentary and acidic volcanic rocks. Hosanri formation is composed of quartz+plagioclase+K-feldspar+biotite+muscovite+granet${\pm}$cordierite${\pm}$sillimanite. Mineral assemblage of biotite granitic gneiss, which is massive granodioritic rock with weak foliation, is similar to Hosanri formation. According to mineral assemblages, metamorphic rocks of studied area can be divided into two metamorphic zones (garnet and sillimanite zones). From Icheonri area, major, trace and rare earth element data of biotite granitic gneiss and luecocratic granite suggest that source rock is politic rocks of Hosanri formation and source magma was formed by anatexis and experienced fractionation of plagioclase. Trace element diagram show collisional environment such as syn-collisional, volcanic arc granite. Orientation of faults in study area have three maximum concentrations, $N54^{\circ}\;W/77^{\circ}\;SW,\;N49^{\circ}\;W/81^{\circ}\;NE\;and\;N10^{\circ}\;W/38^{\circ}\;NE$. Structure analysis suggests that faults in study area ware formed by uplift and compression. Faulting age is guessed after Tertiary because some shear joints is developed in dikes to intrusive Cretaceous acidic volcanic rock. Hosanri formation and Icheon granitic gneiss had experienced similar deformation history because they have maximum concentration to foliations, $N89^{\circ}\;E/55^{\circ}\;SE\;and\;N80^{\circ}\;E/45^{\circ}\;SE$, respectively.

Expression of CsRCI2s by NaCl stress reduces water and sodium ion permeation through CsPIP2;1 in Camelina sativa L.

  • Kim, Hyun-Sung;Lim, Hyun-Gyu;Ahn, Sung-Ju
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.194-194
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    • 2017
  • Camelina (Camelina sativa L.) is a potential bio-energy crop that has short life cycle about 90 days and contains high amount of unsaturated fatty acid which is adequate to bio-diesel production. Enhancing environmental stress tolerance is a main issue to increase not only crop productivity but also big mass production. CsRCI2s (Rare Cold Inducible 2) are cold and salt stress related protein that localized at plasma membrane (PM) and assume to be membrane potential regulation factor. These proteins can be divide into C-terminal tail (CsRCI2D/E/F/G) or no-tail group (CsRCI2A/B/C/H). However, function of CsRCI2s are less understood. In this study, physiological responses and functional characterization of CsRCI2s of Camelina under salt stress were analyzed. Full-length CsRCI2s (A/B/E/F) and CsPIP2;1 sequences were confirmed from Camelina genome browser. Physiological investigations were carried out using one- or four-week-old Camelina under NaCl stress with dose and time dependent manner. Transcriptional changes of CsRCI2A/B/E/F and CsPIP2;1 were determined using qRT-PCR in one-week-old Camelina seedlings treated with NaCl. Translational changes of CsRCI2E and CsPIP2;1 were confirmed with western-blot using the antibodies. Water transport activity and membrane potential measurement were observed by cRNA injected Xenopus laevis oocyte. As results, root growth rate and physiological parameters such as stomatal conductance, chlorophyll fluorescence, and electrolyte leakage showed significant inhibition in 100 and 150 mM NaCl. Transcriptional level of CsPIP2;1 did not changed but CsRCI2s were significantly increased by NaCl concentration, however, no-tail type CsRCI2A and CsRCI2B increased earlier than tail type CsRCI2E and CsRCI2F. Translational changes of CsPIP2;1 was constitutively maintained under NaCl stress. But, accumulation of CsRCI2E significantly increased by NaCl stress. CsPIP2;1 and CsRCI2A/B/E/F co-expressed Xenopus laevis oocyte showed decreased water transport activity as 61.84, 60.30, 62.91 and 76.51 % at CsRCI2A, CsRCI2B, CsRCI2E and CsRCI2F co-expression when compare with single expression of CsPIP2;1, respectively. Moreover, oocyte membrane potential was significantly hyperpolarized by co-expression of CsRCI2s. However, higher hyperpolarized level was observed in tail-type CsRCI2E and CsRCI2F than others, especially, CsRCI2E showed highest level. It means transport of $Na^+$ ion into cell is negatively regulated by expression of CsRCI2s, and, function of C-terminal tail is might be related with $Na^+$ ion influx. In conclusion, accumulation of NaCl-induced CsRCI2 proteins are related with $Na^+$ ion exclusion and prevent water loss by CsPIP2;1 under NaCl stress.

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Geochemistry, Secondary Contamination and Heavy Metal Behavior of Soils and Sediments in the Tohyun Mine Creek, Korea (토현광산 수계에 분포하는 토양과 퇴적물의 지구화학적 특성, 이차적 오염 및 중금속의 거동)

  • 이찬희;이현구;윤경무
    • Economic and Environmental Geology
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    • v.34 no.1
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    • pp.39-53
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    • 2001
  • Environmental pollution of the Tohyun mine creek area was investigated on the basis of geology, mineralogy and geochemistry. In soils and sediments of the mine area, ${Al_2}{O_3}/{Na_2O}$ and ${K_2}O/{Na_2}O$ ratios are partly negative correlation against ${SiO_2}/{Al_2}{O_3}$, respectively. Geochemical characteristics of some trace and rare earth elements such as V/Ni, Ni/Co, La/Ce, Th/Yb, Th/U, La/Th, ${La_N}/{Yb_N}$, La/Sc and Sc/Th are revealed a narrow range and homogeneous compositions may be explained by simple source lithology. These results suggest that sediments source of the host shale around the mine area could be originated by basic to intermediate igneous rocks. Mineral compositions of soil and sediment near the mine area were partly variable mineralogy, which are composed of quartz, mica, feldspar, chlorite, clay minerals and some pyrite. Soils and sediments with highly concentrated heavy minerals, gravity separated mineralogy, are composed of some pyrite, arsenopyrite, chalcopyrite, sphalerite, galena, goethite and various kinds of hydroxide minerals on the polished sections. As normalized by bed rock composition, average enrichment indices of major elements in sediments, precipitates, farmland soils and paddy soils are 1.0, 1.7, 0.9 and 0.8, respectively. Maximum concentration of environmental toxic elements in the mine creek are detected with Ag = 186 ppm, As = 17,100 ppm, Bi = ]27 ppm, Cd = 77 ppm, Cu = 12,299 ppm, Pb = 8,897 ppm, Sb = 1,350 ppm, W = 599 ppm and Zn = 12,250 ppm, which are increasing with total FeO increasing, and extremely high concentrations of surface sediments and precipitates near the waste rock dump. These toxic elements (As, Bi, Cd, Cu, Pb, Sb, W and Zn) of the samples, normalizing by host rock concentration, revealed that average enrichment index is 106.0 for sediments, 279.6 for precipitates, 3.5 for farmland soils and 1.6 for paddy soils. However, on the basis of EPA values, enrichment indices of all the samples are 40.7, 121.4, 1.3 and 0.6, respectively.

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A Study on Geology of Clay Mineral Deposits of Pohang-Ulsan Area and their Physico-Chemical Properties (포항-울산간의 점토자원의 지질과 그 물리화학적 특성에 관한 연구)

  • Kim, Ok Joon;Lee, Ha Young;Kim, Suh Woon;Kim, Soo Jin
    • Economic and Environmental Geology
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    • v.4 no.4
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    • pp.167-215
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    • 1971
  • I. Purpose and Importance of the Study The purpose of the present study is to clarify to geological, mineralogical, and physico-chemical properties of the clay minerals deposits imbedded in the Tertiary sediments in the areas between. Pohang and Ulsan along southeastern coastal region of Korea. These clays are being mined and utilized for filter and insecticide after activation or simple pulverizing, nontheless activated clays are short coming as chemical industry in Korea has been rapidly grown in recent years. In spite of such increase in clay demand, no goological investigation on clay deposits nor physico-chemical properties of the clays have been carried out up to date. Consequently activated clays produced in Korea is not only of low grade but also of shortage in supply, so that Korea has to import activated clays of better grade. The importance of the present study lies, therefore, on that guiding principle could be laid down by knowing stratigraphical horizons, of clay deposits and fundamental data of improving grade of activated clays might be derived from the results of physico-chemical examinations. II. Contents and Scope of the study The contents of the study are pinpointed down in the following two subjects: 1) General geological investigation of Tertiary formations distributed in the areas between Pohang and UIsan, and detail geological study of the bentonitic clay deposits imbedded in them. 2) To clarifty physico-chemical characteristics of the clays by means of chemical analysis, X-ray diffraction and electron microscope. The scope of the study involves the following there points: i) Regional geological investigation-This investigation has been carried out in order to find out the distribution of Tertiary sediments and exact location of clay mineral deposits in the areas between Pohang and UIsan. ii) Detail geological investigation-This has been concentrated in and around the clay deposits which. had been found out by the regional investigation. iii) Laboratory researchs include i) age determination and correlation of Tertiary sediments by paleontological study, and ii) Chemical analysis, X-ray diffraction, and electron microscopic studies on clays, samples taken from various clay deposits. III. Research Results and Suggestions 1) The geology of the area investigated is composed mainly of Janggi and Beomgokri groups of Miocene age in ascending order rested on the upper Silla system, Balkuksa granite and volcanic rocks of upper Cretaceous age as base. 2) Janggi group is composed in ascending order of Janggi conglomerate, Nultaeri rhyolitic tuff, Keumkwangdong shale, two beds of lignite-bearing formations which consist of alternation of conglomerate, sandstone and mudstone, and andesitic, rhyolitic, and basaltic tuff beds. 3) Beomgokri group is mainly composed of andesitic to rhyolitic tuff interlayered by conglomerate and tuffaceous sandstone. In the areas around boundary between North-and South Kyeongsang-do is distributed Haseori farmation which is composed of conglomerate, sandstone, mudstone and andesitic to rhyolitic tuff, and which is correlated to Eoilri formation of Janggi group. 4) Clay deposits of the area are interbedded in Eoilri, Haseori, Nultaeri tuff, Keumkwangdong shale, upper and lower horizon of the lower lignite-bearing seam, and Keumori rhyolitic tuff formations of Janggi group; and are genetically classi.fied into four categories, that is, i) those derived from volcanic ash beds(Haseori and Daeanri deposits), ii) those of secondary residual type from rhyolitic tuff beds(Seokupri deposits), iii) Clay beds above and beneath the lignite seams, (Janggi and Keumkwangdong deposits), and iv) those derived from rhyolitic tuff beds(Sangjeong and Tonghae deposits). 5) Mineral constituents of clay deposits are, according to X-ray diffraction, montmorillonite accompanied in different degree by cristobalite, plagioclase, quartz, stilbite, and halloysite in rare occasion. The clays are grouped according to mineral composition into four types; i) those consist mostly of montmorillonite, ii) those composed of montmorillonite and cristobalite, iii) those composed of montmorillonite and plagioclase, and iv) those composed of montmorillonite, plagioclase and quartz. 6) Clays interbedded in Haseori formation and vicinity of lignite seams belong to the first type, are of good quality and derived either from volcanic ash bed, or primary clay beds near lignite seams. Clays belonged to other types are derived from weathering of rhyolitic tuff formations and their quality varies depending upon original composition and degree of weathering. Few clays in secondary residual type contain small amount of halloysite. 7) Judging from analytical data, content of silica($SiO_2$) varies proportionally with content of cristobalite, and alumina($Al_2O_3$) content does not vary with that of plagioclase, but increases in the sedimentary bedded type of deposits. 8) It is unknown whether or not these days could be upgraded by beneficiation since no grain size of these impurities nor beneficiation test had been studied. 9) Clay beds derived from valcanic ash layers or sedimentary layers at the vicinity of lignite seams are thin in thickness and of small, discontinueous lenticular shape, although they are of good quality; and those derived from rhyolitic tuff formations or residual type from tuff are irregular in both occurrence and quality. It is, therefore, not only very difficult but also meaningless to calculate its reserve, and reserve estimation, even if done, will greatly be deviated from practically minable one. Consequently, way of discovery and exploitation of clay deposits in the area under consideration is to check the geologically favorable areas whenever needed.

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Geochemical Characteristics of the Cretaceous Jindong Granites in the Southwestern Part of the Gyeongsang Basin, Korea: Focussed on Adakitic Signatures (경상분지 서남부에 분포하는 백악기 진동화강암의 지화학적 특성:아다카이틱(adakitic)한 특성을 중심으로)

  • Wee, Soo-Meen;Choi, Seon-Gyu;Ryu, In-Chang;Shin, Hong-Ja
    • Economic and Environmental Geology
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    • v.39 no.5 s.180
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    • pp.555-566
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    • 2006
  • Major, trace and rare earth elements data of the Cretaceous Jindong granitic rocks were investigated in order to constrain the magma source characteristics and to establish the paleotectonic environment of the southwestern part of the Gyeongsang Basin. Geochemical signatures of the granitic rocks from the study area indicate that all of the rocks have characteristics of calc-alkaline series in the subalkaline field, and progressively shift from metaluminous to peraluminous with differentiation. In the variation diagrams, the overall geochemical features of the granites show systematic variations in major and trace elements. Chondrite normalized REE patterns show generally enriched LREE((La/Yb)c=4.2-12.8) and slight negative to flat Eu anomalies. Rb-Sr isotope data of the Jindong granites show that the whole rock age and Sr initial ratio are $114.6{\pm}9.1Ma$ and 0.70457, respectively. The Sr initial ratio of the Jindong granites is very similar to those of the Creataceous granites from Masan, Kimhae and Busan area($^{87}Sr/^{86}Sr=0.7049-0.707$). These results suggest that the magma have the mantle signature and intruded into the area during the early Cretaceous age. The Jindong granites have higher $Al_{2}O_{3},\;Na_{2}O$, Sr and lower $K_{2}O$, Y concentrations compared with typical calc-alkaline granitic rocks. These adakitic signatures are similar to those of adakitic pluton on Kyushu Island, southwest Japan arc. On the ANK vs. ACNK and tectonic discrimination diagrams, parental magma type of the granites corresponds to I-type, VAG granite. Interpretations of the geochemical characteristics of the granitic rocks favor their emplacement at continental margin during the subduction of Izanagi plate.