• 제목/요약/키워드: SMC X-1

검색결과 13건 처리시간 0.033초

A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

  • Hong, Sungwon;Lee, Cha Gon
    • Journal of Genetic Medicine
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    • 제15권1호
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    • pp.24-27
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    • 2018
  • Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

An Application of Hilbert-Huang Transform on the Non-Stationary Astronomical Time Series: The Superorbital Modulation of SMC X-1

  • Hu, Chin-Ping;Chou, Yi;Wu, Ming-Chya;Yang, Ting-Chang;Su, Yi-Hao
    • Journal of Astronomy and Space Sciences
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    • 제30권2호
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    • pp.79-82
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    • 2013
  • We present the Hilbert-Huang transform (HHT) analysis on the quasi-periodic modulation of SMC X-1. SMC X-1, consisting of a neutron star and a massive companion, exhibits superorbital modulation with a period varying between ~40 d and ~65 d. We applied the HHT on the light curve observed by the All-Sky Monitor onboard Rossi X-ray Timing Explorer (RXTE) to obtain the instantaneous frequency of the superorbital modulation of SMC X-1. The resultant Hilbert spectrum is consistent with the dynamic power spectrum while it shows more detailed information in both the time and frequency domains. According to the instantaneous frequency, we found a correlation between the superorbital period and the modulation amplitude. Combining the spectral observation made by the Proportional Counter Array onboard RXTE and the superorbital phase derived in the HHT, we performed a superorbital phase-resolved spectral analysis of SMC X-1. An analysis of the spectral parameters versus the orbital phase for different superorbital states revealed that the diversity of $n_H$ has an orbital dependence. Furthermore, we obtained the variation in the eclipse profiles by folding the All Sky Monitor light curve with orbital period for different superorbital states. A dip feature, similar to the pre-eclipse dip of Her X-1, can be observed only in the superorbital ascending and descending states, while the width is anti-correlated with the X-ray flux.

SNR 0104-72.3: A remnant of Type Ia Supernova in a Star-forming region?

  • 이재준;박상욱
    • 천문학회보
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    • 제36권1호
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    • pp.87.2-87.2
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    • 2011
  • We report our 110 ks Chandra observations of the supernova remnant (SNR) 0104-72.3 in the Small Magellanic Cloud (SMC). The X-ray morphology shows two prominent lobes along the northwest-southeast direction and a soft faint arc in the east. Previous low resolution X-ray images attributed the unresolved emission from the southeastern lobe to a Be/X-ray star. Our high resolution Chandra data clearly shows that this emission is diffuse, shock-heated plasma, with negligible X-ray emission from the Be star. The eastern arc is positionally coincident with a filament seen in optical and infrared observations. Its X-ray spectrum is well fit by plasma of normal SMC abundances, suggesting that it is from shocked ambient gas. The X-ray spectra of the lobes show overabundant Fe, which is interpreted as emission from the reverse-shocked Fe-rich ejecta. The overall spectral characteristics of the lobes and the arc are similar to those of Type Ia SNRs, and we propose that SNR 0104-72.3 is the first case for a robust candidate Type Ia SNR in the SMC. On the other hand, the remnant appears to be interacting with dense clouds toward the east and to be associated with a nearby star-forming region. These features are unusual for a standard Type Ia SNR. Our results suggest an intriguing possibility that the progenitor of SNR 0104-72.3 might have been a white dwarf of a relatively young population.

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다양한 버섯 수확 후 배지로부터 목질섬유소 분해효소의 최적 추출 및 특성 (Optimal Extraction and Characteristics of Lignocellulytic Enzymes from Various Spent Mushroom Composts)

  • 임선화;이윤혜;강희완
    • 한국균학회지
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    • 제41권3호
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    • pp.160-166
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    • 2013
  • 느타리버섯(Pleurotus ostreatus), 큰느타리버섯(Pleurotus eryngii), 팽이버섯(Flammulina velvtipes)과 노루궁뎅이버섯(Hericium erinaceum), 느티만가닥버섯(Lyophyllum ulmarium), 노랑느타리버섯(Pleurotus cornucopiae), 잣버섯(Lentinus lepideus), 버들송이버섯(Agrocybe cylindracea)의 수확 후 배지 (spent mushroom compost, SMC)로부터 ${\alpha}$-amylase (EC 3.2.1.1), lignin peroxidase (EC 1.11.1.14), laccase (EC 1.10.3.2), xylanase (EC 3.2.1.8), ${\beta}$-xylosidase (EC 3.2.1.37), ${\beta}$-glucosidase (EC 3.2.1.21) 및 cellulase (EC 3.2.1.4)의 활성을 추출 buffer별로 조사하였다. 물과 0.25% Triton X-100가 효소 회수율이 높았으며 xylanase는 팽이버섯 SMC에서 153 U/g으로 가장 많이 생산되었으며 laccase는 큰느타리버섯 SMC에서 8.0 U/g로 가장 높았다. ${\alpha}$-amylase (3.6 U/g)와 cellulase (3.2 U/g)는 버들송이 SMC에서 가장 많이 생산되었다. 큰느타리버섯 SMC 추출물의 laccase와 cellulase 활성은 상용 효소와 필적하는 효소활성을 보여 산업적 이용 가능성을 시사하였다.

APPLICATIONS OF THE HILBERT-HUANG TRANSFORM ON THE NON-STATIONARY ASTRONOMICAL TIME SERIES

  • HU, CHIN-PING;CHOU, YI;YANG, TING-CHANG;SU, YI-HAO;HSIEH, HUNG-EN;LIN, CHING-PING;CHUANG, PO-SHENG;LIAO, NAI-HUI
    • 천문학논총
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    • 제30권2호
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    • pp.605-607
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    • 2015
  • The development of time-frequency analysis techniques allow astronomers to successfully deal with the non-stationary time series that originate from unstable physical mechanisms. We applied a recently developed time-frequency analysis method, the Hilbert-Huang transform (HHT), to two non-stationary phenomena: the superorbital modulation in the high-mass X-ray binary SMC X-1 and the quasi-periodic oscillation (QPO) of the AGN RE J1034+396. From the analysis of SMC X-1, we obtained a Hilbert spectrum that shows more detailed information in both the time and frequency domains. Then, a phase-resolved analysis of both the spectra and the orbital profiles was presented. From the spectral analysis, we noticed that the iron line production is dominated by different regions of this binary system in different superorbital phases. Furthermore, a pre-eclipse dip lying at orbital phase ~0:6-0:85 was discovered during the superorbital transition state. We further applied the HHT to analyze the QPO of RE J1034+396. From the Hilbert spectrum and the O-C analysis results, we suggest that it is better to divide the evolution of the QPO into three epochs according to their different periodicities. The correlations between the QPO periods and corresponding fluxes were also different in these three epochs. The change in periodicity and the relationships could be interpreted as the change in oscillation mode based on the diskoseismology model.

Effect of rainfall events on soil carbon flux in mountain pastures

  • Jeong, Seok-Hee;Eom, Ji-Young;Lee, Jae-ho;Lee, Jae-Seok
    • Journal of Ecology and Environment
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    • 제41권11호
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    • pp.302-309
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    • 2017
  • Background: Large-scale land-use change is being caused by various socioeconomic problems. Land-use change is necessarily accompanied by changes in the regional carbon balance in terrestrial ecosystems and affects climate change. Therefore, it is crucial to understand the correlation between environmental factors altered by land-use change and the carbon balance. To address this issue, we studied the characteristics of soil carbon flux and soil moisture content related to rainfall events in mountain pastures converted from deciduous forest in Korea. Results: The average soil moisture contents (SMC) during the study period were 23.1% in the soil respiration (SR) plot and 25.2% in the heterotrophic respiration (HR) plot. The average SMC was increased to 2.1 and 1.1% in the SR and HR plots after rainfall events, respectively. In addition, saturated water content was 29.36% in this grassland. The soil water content was saturated under the consistent rainfall of more than $5mm\;h^{-1}$ rather than short-term heavy rainfall event. The average SR was increased to 28.4% after a rainfall event, but the average HR was decreased to 70. 1%. The correlation between soil carbon flux rates and rainfall was lower than other environmental factors. The correlation between SMC and soil carbon flux rates was low. However, HR exhibited a tendency to be decreased when SMC was 24.5%. In addition, the correlation between soil temperature and respiration rate was significant. Conclusions: In a mountain pasture ecosystem, rainfall induced the important change of soil moisture content related to respiration in soil. SR and HR were very sensitive to change of SMC in soil surface layer about 0-10-cm depth. SR was increased by elevation of SMC due to a rainfall event, and the result was assumed from maintaining moderate soil moisture content for respiration in microorganism and plant root. However, HR was decreased in long-time saturated condition of soil moisture content. Root has obviously contributed to high respiration in heavy rainfall, but it was affected to quick depression in respiration under low rainfall. The difference of SMC due to rainfall event was causative of a highly fluctuated soil respiration rate in the same soil temperature condition. Therefore, rainfall factor or SMC are to be considered in predicting the soil carbon flux of grassland ecosystems for future climate change.

오케타니 유방마사지가 유방불편감, 모유량 및 모유 Total Protein에 미치는 효과 (Effects of Oketani Breast Massage on Breast Discomfort, Breast Milk Amount, and Breast Milk Total Protein)

  • 김수미;전순이;송선미
    • 한국콘텐츠학회논문지
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    • 제18권1호
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    • pp.493-503
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    • 2018
  • 본 연구의 목적은 오케타니 유방마사지가 산욕초기 수유부의 유방불편감, 모유량 및 모유 Total Protein에 미치는 효과를 검증하는 것이다. 연구설계는 비동등성 대조군 전후시차설계를 이용한 유사실험연구이다. 연구대상은 유방불편감이 있는 산욕초기 산모 60명으로, 실험군과 대조군은 각각 30명이었고, 자료수집은 설문지와 산모가 자가 채취한 모유를 분석하였다. 간호중재로 실험군에게 오케타니 유방마사지를 출산 후 2회 실시하였고, 대조군에게 Self Mamma Care(SMC)을 실시하였다. 수집된 자료는 $x^2-test$, t-test로 분석하였다. 연구결과에서 오케타니 유방마사지를 받은 실험군이 SMC 교육을 받은 대조군보다 유방불편감이 감소하였고, 모유량, 모유 Total Protein이 통계적으로 유의하게 증가하였으므로 오케타니 유방마사지가 유방불편감을 개선하고, 모유량을 증가시키고, 모유 Total Protein을 증가시키는 데 효과적이라 할 수 있다. 그러므로 본 연구는 임상실무에서 산욕초기 수유부에게 유방관련 불편감 감소와 모유량 증가, 모유성분을 개선하는 간호중재로 오케타니 유방마사지가 활용되기를 기대한다.

산전 자가유방 마사지 교육이 초산모의 모유수유 자기효능감, 모유수유 적응과 실천에 미치는 효과 (Effects of Prenatal Breast Self-massage Education on Breastfeeding Self-efficacy, Adaptation, and Practice in Primiparous Women)

  • 김수;이혜정;김선희;김성연
    • 부모자녀건강학회지
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    • 제20권1호
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    • pp.18-27
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    • 2017
  • Purpose: This study aimed to verify the effects of prenatal breast self-massage education on first-time mothers' breastfeeding self-efficacy, breastfeeding adaptation, and breastfeeding practice. Method: The experimental group (n=26) received prenatal breast self-massage education focused on self mamma care (SMC) at 34-36 weeks gestation and 2 weeks later face-to-face. The control group (n=25) was recruited immediately following birth and received usual care. Breastfeeding self-efficacy was measured 4 hours after childbirth and 3 days later, and breastfeeding practice, breastfeeding adaptation, and breastfeeding-related characteristics were measured 2 weeks and 4 weeks after childbirth through online survey. The data were analyzed by $x^2$ test and t-test using SPSS/WIN 24.0. Results: There was no significant difference in breastfeeding self-efficacy of the experimental group at 4 hours after childbirth (t=0.83, p=.410) whereas it was statistically significantly higher at 3 days postpartum (t=2.86, p=.006). There were no significant differences in breastfeeding adaptation between the two groups at both 2 weeks (t=1.76, p=.084) and 4 weeks postpartum (t=0.87, p=.388). For breastfeeding practice a statistically significant difference was found at 4 weeks for the experimental group ($x^2=4.77$, p=.036). Conclusion: This antenatal SMC intervention was found to be a feasible intervention for use in clinical practice.

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H13 강의 템퍼링 조건에 따른 템퍼링 거동 및 기계적 물성 효과 (Effect of tempering conditions on the tempering behavior and mechanical properties of tempered H13 steel)

  • 권기훈;최병호;손윤호;이영국;문경일
    • 한국표면공학회지
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    • 제57권2호
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    • pp.105-114
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    • 2024
  • Tempering behavior and mechanical properties in AISI H13 steel, quenched and tempered from 300 ℃ to 700 ℃ for different tempering time (1, 2, 5, 10, 20 hr) were quantitatively investigated by scanning electron microscopy (SEM), x-ray diffractometer (XRD), impact test machine, rockwell apparatus, ball-on-disk tester. Under the condition that the tempering time is 2 hours, the hardness increases slightly as the tempering temperature increases, but decreases rapidly when the tempering temperature exceeds 500 ℃, while the impact energy increases in proportion to the tempering temperature. Friction tests were conducted in dry condition with a load of 30 N, and the friction coefficient and wear rate according to tempering conditions were measured to prove the correlation with hardness and microstructure. In addition, primary tempering from 300 ℃ to 700 ℃ was performed at various times to establish a kinetic model to predict hardness under specific tempering conditions.

토양수분함량 예측 및 계획관개 모의 모형 개발에 관한 연구(I) (A Study on the Development of a Simulation Model for Predicting Soil Moisture Content and Scheduling Irrigation)

  • 김철회;고재군
    • 한국농공학회지
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    • 제19권1호
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    • pp.4279-4295
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    • 1977
  • Two types of model were established in order to product the soil moisture content by which information on irrigation could be obtained. Model-I was to represent the soil moisture depletion and was established based on the concept of water balance in a given soil profile. Model-II was a mathematical model derived from the analysis of soil moisture variation curves which were drawn from the observed data. In establishing the Model-I, the method and procedure to estimate parameters for the determination of the variables such as evapotranspirations, effective rainfalls, and drainage amounts were discussed. Empirical equations representing soil moisture variation curves were derived from the observed data as the Model-II. The procedure for forecasting timing and amounts of irrigation under the given soil moisture content was discussed. The established models were checked by comparing the observed data with those predicted by the model. Obtained results are summarized as follows: 1. As a water balance model of a given soil profile, the soil moisture depletion D, could be represented as the equation(2). 2. Among the various empirical formulae for potential evapotranspiration (Etp), Penman's formula was best fit to the data observed with the evaporation pans and tanks in Suweon area. High degree of positive correlation between Penman's predicted data and observed data with a large evaporation pan was confirmed. and the regression enquation was Y=0.7436X+17.2918, where Y represents evaporation rate from large evaporation pan, in mm/10days, and X represents potential evapotranspiration rate estimated by use of Penman's formula. 3. Evapotranspiration, Et, could be estimated from the potential evapotranspiration, Etp, by introducing the consumptive use coefficient, Kc, which was repre sensed by the following relationship: Kc=Kco$.$Ka+Ks‥‥‥(Eq. 6) where Kco : crop coefficient Ka : coefficient depending on the soil moisture content Ks : correction coefficient a. Crop coefficient. Kco. Crop coefficients of barley, bean, and wheat for each growth stage were found to be dependent on the crop. b. Coefficient depending on the soil moisture content, Ka. The values of Ka for clay loam, sandy loam, and loamy sand revealed a similar tendency to those of Pierce type. c. Correction coefficent, Ks. Following relationships were established to estimate Ks values: Ks=Kc-Kco$.$Ka, where Ks=0 if Kc,=Kco$.$K0$\geq$1.0, otherwise Ks=1-Kco$.$Ka 4. Effective rainfall, Re, was estimated by using following relationships : Re=D, if R-D$\geq$0, otherwise, Re=R 5. The difference between rainfall, R, and the soil moisture depletion D, was taken as drainage amount, Wd. {{{{D= SUM from { {i }=1} to n (Et-Re-I+Wd)}}}} if Wd=0, otherwise, {{{{D= SUM from { {i }=tf} to n (Et-Re-I+Wd)}}}} where tf=2∼3 days. 6. The curves and their corresponding empirical equations for the variation of soil moisture depending on the soil types, soil depths are shown on Fig. 8 (a,b.c,d). The general mathematical model on soil moisture variation depending on seasons, weather, and soil types were as follow: {{{{SMC= SUM ( { C}_{i }Exp( { - lambda }_{i } { t}_{i } )+ { Re}_{i } - { Excess}_{i } )}}}} where SMC : soil moisture content C : constant depending on an initial soil moisture content $\lambda$ : constant depending on season t : time Re : effective rainfall Excess : drainage and excess soil moisture other than drainage. The values of $\lambda$ are shown on Table 1. 7. The timing and amount of irrigation could be predicted by the equation (9-a) and (9-b,c), respectively. 8. Under the given conditions, the model for scheduling irrigation was completed. Fig. 9 show computer flow charts of the model. a. To estimate a potential evapotranspiration, Penman's equation was used if a complete observed meteorological data were available, and Jensen-Haise's equation was used if a forecasted meteorological data were available, However none of the observed or forecasted data were available, the equation (15) was used. b. As an input time data, a crop carlender was used, which was made based on the time when the growth stage of the crop shows it's maximum effective leaf coverage. 9. For the purpose of validation of the models, observed data of soil moiture content under various conditions from May, 1975 to July, 1975 were compared to the data predicted by Model-I and Model-II. Model-I shows the relative error of 4.6 to 14.3 percent which is an acceptable range of error in view of engineering purpose. Model-II shows 3 to 16.7 percent of relative error which is a little larger than the one from the Model-I. 10. Comparing two models, the followings are concluded: Model-I established on the theoretical background can predict with a satisfiable reliability far practical use provided that forecasted meteorological data are available. On the other hand, Model-II was superior to Model-I in it's simplicity, but it needs long period and wide scope of observed data to predict acceptable soil moisture content. Further studies are needed on the Model-II to make it acceptable in practical use.

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