• Title/Summary/Keyword: Nested Factor

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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

  • Park, Kyung Eui;Kim, Sung Ah;Kang, Moon Joo;Kim, Hee Sun;Cho, Sung Im;Yoo, Kyoung Won;Kim, So Yeon;Lee, Hye Jun;Oh, Sun Kyung;Seong, Moon-Woo;Ku, Seung-Yup;Jun, Jong Kwan;Park, Sung Sup;Choi, Young Min;Moon, Shin Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.40 no.1
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    • pp.42-46
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    • 2013
  • Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.

Analysis of the Elderly Travel Characteristics and Travel Behavior with Daily Activity Schedules (the Case of Seoul, Korea) (활동 스케줄 분석을 통한 고령자의 통행특성과 통행행태에 관한 연구)

  • Seo, Sang-Eon;Jeong, Jin-Hyeok;Kim, Sun-Gwan
    • Journal of Korean Society of Transportation
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    • v.24 no.5 s.91
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    • pp.89-108
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    • 2006
  • Korea has been entering the ageing society as the population of age over 65 shared over 7% since the year 2000. The ageing society needs to have transportation facility considering elderly people's travel behavior. This study aims to understand the elderly people's travel behavior using recent data in Korea. The activity schedule approach begins with travel outcomes are part of an activitv scheduling decision. For tho?e approach. used discrete choice models (especially. Nested Logit Model) to address the basic modeling problem capturing decision interaction among the many choice dimensions of the immense activity schedule choice set The day activity schedule is viewed as a sot of tours and at-home activity episodes tied togather with overarching day activity pattern using the Seoul Metropolitan Area Transportation Survey data, which was conducted in June, 2002. Decisions about a specific tour in the schedule are conditioned by the choice of day activity pattern. The day activity scheduling model estimated in this study consists of tours interrelated in a day activity pattern. The day activity pattern model represents the basic decision of activity participation and priorities and places each activity in a configuration of tours and at-home episodes. Each pattern alternative is defined by the primary activity of the day, whether the primary activity occurs at home or away, and the type of tour for the primary activity. In travel mode choice of the elderly and non-workers, especially, travel cost was found to be important in understanding interpersonal variations in mode choice behavior though, travel time was found to be less important factor in choosing travel mode. In addition, although, generally, the elderly was likely to choose transit mode, private mode was preferred for the elderly over 75 years old owing to weakened physical health for such things as going up and down of stairs. Therefore. as entering the ageing society, transit mode should be invested heavily in transportation facility Planning tor improving elderly transportation service. Although the model has not yet been validated in before-and-after prediction studies. this study gives strong evidence of its behavioral soundness, current practicality. and potential for improving reliability of transportation Projects superior to those of the best existing systems in Korea.

A Study on the Predictability of Eastern Winter Storm Waves Using Operational Wind Forecasts of KMA (기상청 현업 예보 바람자료를 이용한 동해안 동계 파랑 예측 재현도 연구)

  • Do, Kideok;Kim, Jinah
    • Journal of Korean Society of Coastal and Ocean Engineers
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    • v.30 no.5
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    • pp.223-233
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    • 2018
  • The predictability of winter storm waves using KMA's operational wind forecasts has been studied to predict wind waves and swells in the East coast of Korea using SWAN. The nested model were employed along the East coast of Korea to simulate the wave transformation in the coastal area and wave dissipation term of whitecapping is optimized to improve swell prediction accuracy. In this study, KMA's operational meteorological models (RDAPS and LDAPS) are used as input wind fields. In order to evaluate model accuracy, we also simulate wind waves and swells using ECMWF reanalysis and KIOST WRF wind and they are compared with the KMA's operational wave model and the wave measurement data on the offshore and onshore stations. As a result, it has the lowest RMSE and the highest correlation coefficient in the onshore when the input wind fields are KMA's operational meteorological forecasts. In the offshore, all of the simulate results shows good agreements with similar error statistics. It means that it is very feasible to use SWAN model with the modified whitecapping factor and KMA's operational meteorological forecasts for predicting the wind waves and swells in the East coast of Korea.

Association of A/T Rich Microsatellites with Responses to Artificial Selection for Larval Developmental Duration in the Silkworm Bombyx mori

  • Pradeep, Appukuttan Nair Retnabhavan;Awasthi, Arvind Kumar;Urs, Raje Siddaraje
    • Molecules and Cells
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    • v.25 no.4
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    • pp.467-478
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    • 2008
  • Simple sequence repeats (SSRs) and interSSR (ISSR) marker systems were used in this study to reveal genetic changes induced by artificial selection for short/long larval duration in the tropical strain Nistari of the silkworm Bombyx mori. Artificial selection separated longer larval duration (LLD) ($29.428{\pm}0.723days$) and shorter larval duration (SLD) ($22.573{\pm}0.839days$) lines from a base, inbred population of Nistari (larval span of $23.143{\pm}0.35days$). SSR polymorphism was observed between the LLD and SLD lines at one microsatellite locus, Bmsat106 ($CA_7$) and at two loci of 1074 bp and 823 bp generated with the ISSR primer UBC873. Each of these loci was present only in the LLD line. The loci segregated in the third generation of selection and were fixed in opposite directions. In the $F_2$ generation of the $LLD{\times}SLD$ lines, the alleles of Bmsat106 and $UBC873_{1074bp}$ segregated in a 1:1 ratio and the loci were present only in the LLD individuals. $UBC873_{823bp}$ was homozygous. Single factor ANOVA showed a significant association between the segregating loci and longer larval duration. Together, the two alleles contributed to an 18% increase in larval duration. The nucleotide sequences of the $UBC873_{1074bp}$ and $UBC873_{823bp}$ loci had 67% A/T content and consisted of direct, reverse, complementary and palindromic repeats. The repeats appeared to be "nested" (59%) in larger repeats or as clustered elements adjacent to other repeats. Of 203 microsatellites identified, dinucleotides (67.8%) predominated and were rich in A/T and T/A motifs. The sequences of the $UBC873_{1074bp}$ and $UBC873_{823bp}$ loci showed similarity (E = 0.0) to contigs located in Scaffold 010774 and Scaffold 000139, respectively, of the B. mori genome. BLASTN analysis of the $UBC873_{1074bp}$ sequence showed significant homology of (nt.) 45-122 with upstream region of three exons from Bombyx. The complete sequence of this locus showed ~49% nucleotide conservation with transposon 412 of Drosophila melanogaster and the Ikirara insertions of Anopheles gambiae. The A + T richness and lack of coding potential of these small loci, and their absence in the SLD line, reflect the active process of genetic change associated with the switch to short larval duration as an adaptation to the tropics.

Mineralized Polysaccharide Transplantation Modules Supporting Human MSC Conversion into Osteogenic Cells and Osteoid Tissue in a Non-Union Defect

  • Ge, Qing;Green, David William;Lee, Dong-Joon;Kim, Hyun-Yi;Piao, Zhengguo;Lee, Jong-Min;Jung, Han-Sung
    • Molecules and Cells
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    • v.41 no.12
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    • pp.1016-1023
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    • 2018
  • Regenerative orthopedics needs significant devices to transplant human stem cells into damaged tissue and encourage automatic growth into replacements suitable for the human skeleton. Soft biomaterials have similarities in mechanical, structural and architectural properties to natural extracellular matrix (ECM), but often lack essential ECM molecules and signals. Here we engineer mineralized polysaccharide beads to transform MSCs into osteogenic cells and osteoid tissue for transplantation. Bone morphogenic proteins (BMP-2) and indispensable ECM proteins both directed differentiation inside alginate beads. Laminin and collagen IV basement membrane matrix proteins fixed and organized MSCs onto the alginate matrix, and BMP-2 drove differentiation, osteoid tissue self-assembly, and small-scale mineralization. Augmentation of alginate is necessary, and we showed that a few rationally selected small proteins from the basement membrane (BM) compartment of the ECM were sufficient to up-regulate cell expression of Runx-2 and osteocalcin for osteoid formation, resulting in Alizarin red-positive mineral nodules. More significantly, nested BMP-2 and BM beads added to a non-union skull defect, self-generated osteoid expressing osteopontin (OPN) and osteocalcin (OCN) in a chain along the defect, at only four weeks, establishing a framework for complete regeneration expected in 6 and 12 weeks. Alginate beads are beneficial surgical devices for transplanting therapeutic cells in programmed (by the ECM components and alginate-chitosan properties) reaction environments ideal for promoting bone tissue.

Investigation of Norovirus Occurrence and Influence of Environmental Factors in Food Service Institutions of ChungCheong Area (충청지역 집단급식소의 노로바이러스 실태조사와 환경요인의 영향)

  • Jung, Woo-Young;Eom, Joon-Ho;Kim, Byeong-Jo;Yun, Min-Ho;Ju, In-Sun;Kim, Chang-Soo;Kim, Mi-Ra;Byun, Jung-A;Park, You-Gyoung;Son, Sang-Hyuck;Lee, Eun-Mi;Jung, Rae-Seok;Na, Mi-Ae;Yuk, Dong-Yeon;Gang, Ji-Yeon;Heo, Ok-Sun
    • Journal of Food Hygiene and Safety
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    • v.25 no.2
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    • pp.153-161
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    • 2010
  • The purpose of this study was to examine the appearance of norovirus in the water for food in food service institutions and the influence of physicochemical and microbial factors of norovirus in order to work out basic data to predict the detection of norovirus. Among 82 samples of water for food in food service institutions, norovirus appeared in 7 samples and the rate of appearance was 8.5%. As for the type of norovirus, one samples contained GI type (genotype GI-6) and six samples contained GII type (genotype GII-2, GII-4, GII-12). In the regression model of prediction of norovirus, the rate of appearance was correlated with $NH_3$-N, total solids and the consumption of $KMnO_4$, out of such variables as $NH_3$-N, total solids, the consumption of $KMnO_4$, depth, chloride and total colony counts, and its contribution rate for effectiveness was 78.60%. In order to examine the influential factor of environment upon the detection of norovirus, Pearson's correlation analysis was carried out. The predictable regression formula for appearance rate of norovirus was expressed as -1.818 + 42.677 [$NH_3$-N] + 0.023 [total solids] + 0.762 [consumption of $KMnO_4$] -0.009 [depth] -0.146 [chloride] + 0.007 [total colony counts] (R = 0.904, $R^2$ = 0.818, adjusted $R^2$ = 0.786, p < 0.05). The most influential factors upon the detection of norovirus were $NH_3$-N, total solids and the consumption of $KMnO_4$. In other words, when the measured values of $NH_3$-N, total solids and the consumption of $KMnO_4$ were higher, the possibility of appearance of norovirus increased.

Ecological Changes of Insect-damaged Pinus densiflora Stands in the Southern Temperate Forest Zone of Korea (I) (솔잎혹파리 피해적송림(被害赤松林)의 생태학적(生態学的) 연구(研究) (I))

  • Yim, Kyong Bin;Lee, Kyong Jae;Kim, Yong Shik
    • Journal of Korean Society of Forest Science
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    • v.52 no.1
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    • pp.58-71
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    • 1981
  • Thecodiplosis japonesis is sweeping the Pinus densiflora forests from south-west to north-east direction, destroying almost all the aged large trees as well as even the young ones. The front line of infestation is moving slowly but ceaselessly norhwards as a long bottle front. Estimation is that more than 40 percent of the area of P. densiflora forest has been damaged already, however some individuals could escapes from the damage and contribute to restore the site to the previous vegetation composition. When the stands were attacked by this insect, the drastic openings of the upper story of tree canopy formed by exclusively P. densiflora are usually resulted and some environmental factors such as light, temperature, litter accumulation, soil moisture and offers were naturally modified. With these changes after insect invasion, as the time passes, phytosociologic changes of the vegetation are gradually proceeding. If we select the forest according to four categories concerning the history of the insect outbreak, namely, non-attacked (healthy forest), recently damaged (the outbreak occured about 1-2 years ago), severely damaged (occured 5-6 years ago), damage prolonged (occured 10 years ago) and restored (occured about 20 years ago), any directional changes of vegetation composition could be traced these in line with four progressive stages. To elucidate these changes, three survey districts; (1) "Gongju" where the damage was severe and it was outbroken in 1977, (2) "Buyeo" where damage prolonged and (3) "Gochang" as restored, were set, (See Tab. 1). All these were located in the south temperate forest zone which was delimited mainly due to the temporature factor and generally accepted without any opposition at present. In view of temperature, the amount and distribution of precipitation and various soil factor, the overall homogeneity of environmental conditions between survey districts might be accepted. However this did not mean that small changes of edaphic and topographic conditions and microclimates can induce any alteration of vegetation patterns. Again four survey plots were set in each district and inter plot distance was 3 to 4 km. And again four subplots were set within a survey plot. The size of a subplot was $10m{\times}10m$ for woody vegetation and $5m{\times}5m$ for ground cover vegetation which was less than 2 m high. The nested quadrat method was adopted. In sampling survey plots, the followings were taken into account: (1) Natural growth having more than 80 percent of crown density of upper canopy and more than 5 hectares of area. (2) Was not affected by both natural and artificial disturbances such as fire and thinning operation for the past three decades. (3) Lower than 500 m of altitude (4) Less than 20 degrees of slope, and (5) Northerly sited aspect. An intensive vegetation survey was undertaken during the summer of 1980. The vegetation was devided into 3 categories for sampling; the upper layer (dominated mainly by the pine trees), the middle layer composed by oak species and other broad-leaved trees as well as the pine, and the ground layer or the lower layer (shrubby form of woody plants). In this study our survey was concentrated on woody species only. For the vegetation analysis, calculated were values of intensity, frequency, covers, relative importance, species diversity, dominance and similarity and dissimilasity index when importance values were calculated, different relative weights as score were arbitrarily given to each layer, i.e., 3 points for the upper layer, 2 for the middle layer and 1 for the ground layer. Then the formula becomes as follows; $$R.I.V.=\frac{3(IV\;upper\;L.)+2(IV.\;middle\;L.)+1(IV.\;ground\;L.)}{6}$$ The values of Similarity Index were calculated on the basis of the Relative Importance Value of trees (sum of relative density, frequency and cover). The formula used is; $$S.I.=\frac{2C}{S_1+S_2}{\times}100=\frac{2C}{100+100}{\times}100=C(%)$$ Where: C = The sum of the lower of the two quantitative values for species shared by the two communities. $S_1$ = The sum of all values for the first community. $S_2$ = The sum of all values for the second community. In Tab. 3, the species composition of each plot by layer and by district is presented. Without exception, the species formed the upper layer of stands was Pinus densiflora. As seen from the table, the relative cover (%), density (number of tree per $500m^2$), the range of height and diameter at brest height and cone bearing tendency were given. For the middle layer, Quercus spp. (Q. aliena, serrata, mongolica, accutissina and variabilis) and Pinus densiflora were dominating ones. Genus Rhodedendron and Lespedeza were abundant in ground vegetation, but some oaks were involved also. (1) Gongju district The total of woody species appeared in this district was 26 and relative importance value of Pinus densiflora for the upper layer was 79.1%, but in the middle layer, the R.I.V. for Quercus acctissima, Pinus densiflora, and Quercus aliena, were 22.8%, 18.7% and 10.0%, respectively, and in ground vegetation Q. mongolica 17.0%, Q. serrata 16.8% Corylus heterophylla 11.8%, and Q. dentata 11.3% in order. (2) Buyeo district. The number of species enumerated in this district was 36 and the R.I.V. of Pinus densiflora for the uppper layer was 100%. In the middle layer, the R.I.V. of Q. variabilis and Q. serrata were 8.6% and 8.5% respectively. In the ground vegetative 24 species were counted which had no more than 5% of R.I.V. The mean R.I.V. of P.densiflora ( totaling three layers ) and averaging four plots was 57.7% in contrast to 46.9% for Gongju district. (3) Gochang-district The total number of woody species was 23 and the mean R.I.V. of Pinus densiflora was 66.0% showing greater value than those for two former districts. The next high value was 6.5% for Q. serrata. As the time passes since insect outbreak, the mean R.I.V. of P. densiflora increased as the following order, 46.9%, 57.7% and 66%. This implies that P. densiflora was getting back to its original dominat state again. The pooled importance of Genus Quercus was decreasing with the increase of that for Pinus densiflora. This trend was contradict to the facts which were surveyed at Kyonggi-do area (the central temperate forest zone) reported previously (Yim et al, 1980). Among Genus Quercus, Quercus acutissina, warm-loving species, was more abundant in the southern temperature zone to which the present research is concerned than the central temperate zone. But vice-versa was true with Q. mongolica, a cold-loving one. The species which are not common between the present survey and the previous report are Corpinus cordata, Beltala davurica, Wisturia floribunda, Weigela subsessilis, Gleditsia japonica var. koraiensis, Acer pseudosieboldianum, Euonymus japonica var. macrophylla, Ribes mandshuricum, Pyrus calleryana var. faruiei, Tilia amurensis and Pyrus pyrifolia. In Figure 4 and Table 5, Maximum species diversity (maximum H'), Species diversity (H') and Eveness (J') were presented. The Similarity indices between districts were shown in Tab. 5. Seeing Fig. 6, showing two-dimensional ordination of polts on the basis of X and Y coordinates, Ai plots aggregate at the left site, Bi plots at lower site, and Ci plots at upper-right site. The increasing and decreasing patterns as to Relative Density and Relative Importance Value by genus or species were given in Fig. 7. Some of the patterns presented here are not consistent with the previously reported ones (Yim, et al, 1980). The present authors would like to attribute this fact that two distinct types of the insect attack, one is the short war type occuring in the south temperate forest zone, which means that insect attack went for a few years only, the other one is a long-drawn was type observed at the temperate forest zone in which the insect damage went on continuously for several years. These different behaviours of infestation might have resulted the different ways of vegetational change. Analysing the similarity indices between districts, the very convincing results come out that the value of dissimilarity index between A and B was 30%, 27% between B and C and 35% between A and C (Table 6). The range of similarity index was obtained from the calculation of every possible combinations of plots between two districts. Longer time isolation between communities has brought the higher value of dissimilarity index. The main components of ground vegetation, 10 to 20 years after insect outbreak, become to be consisted of mainly Genus Lespedeza and Rhododendron. Genus Quercus which relate to the top dorminant state for a while after insect attack was giving its place to Pinus densiflora. It was implied that, provided that the soil fertility, soil moisture and soil depth were good enough, Genus Quercuss had never been so easily taken ever by the resistant speeies like Pinus densiflora which forms the edaphic climax at vast areas of forest land. Usually they refer Quercus to the representative component of the undisturbed natural forest in the central part of this country.

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