• Title/Summary/Keyword: S1, S2 Detection

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Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome (Prader-Willi 증후군의 임상 양상 및 유전학적 진단에 관한 고찰)

  • Lee, Ji Eun;Moon, Kwang Bin;Hwang, Jong Hee;Kwon, Eun Kyung;Kim, Sun Hee;Kim, Jong Won;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
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    • v.45 no.9
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    • pp.1126-1133
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    • 2002
  • Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

Land-Cover Change Detection of Western DMZ and Vicinity using Spectral Mixture Analysis of Landsat Imagery (선형분광혼합화소분석을 이용한 서부지역 DMZ의 토지피복 변화 탐지)

  • Kim, Sang-Wook
    • Journal of the Korean Association of Geographic Information Studies
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    • v.9 no.1
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    • pp.158-167
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    • 2006
  • The object of this study is to detect of land-cover change in western DMZ and vicinity. This was performed as a basic study to construct a decision support system for the conservation or a sustainable development of the DMZ and Vicinity near future. DMZ is an is 4km wide and 250km long and it's one of the most highly fortified boundaries in the world and also a unique thin green line. Environmentalists want to declare the DMZ as a natural reserve and a biodiversity zone, but nowadays through the strengthening of the inter-Korean economic cooperation, some developers are trying to construct a new-town or an industrial complex inside of the DMZ. This study investigates the current environmental conditions, especially deforestation of the western DMZ adopting remote sensing and GIS techniques. The Land-covers were identified through the linear spectvral mixture analysis(LSMA) which was used to handle the spectral mixture problem of low spatial resolution imagery of Landsat TM and ETM+ imagery. To analyze quantitative and spatial change of vegetation-cover in western DMZ, GIS overlay method was used. In LSMA, to develop high-quality fraction images, three endmembers of green vegetation(GV), soil, water were driven from pure features in the imagery. Through 15 years, from 1987 to 2002, forest of western DMZ and vicinity was devastated and changed to urban, farmland or barren land. Northern part of western DMZ and vicinity was more deforested than that of southern part. ($52.37km^2$ of North Korean forest and $39.04km^2$ of South Korean were change to other land-covers.) In case of North Korean part, forest changed to barren land and farmland and in South Korean part, forest changed to farmland and urban area. Especially, In North Korean part of DMZ and vicinity, $56.15km^2$ of farmland changed to barren land through 15 years, which showed the failure of the 'Darakbat' (terrace filed) project which is one of food increase projects in North Korea.

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Improvement and Validation of Convective Rainfall Rate Retrieved from Visible and Infrared Image Bands of the COMS Satellite (COMS 위성의 가시 및 적외 영상 채널로부터 복원된 대류운의 강우강도 향상과 검증)

  • Moon, Yun Seob;Lee, Kangyeol
    • Journal of the Korean earth science society
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    • v.37 no.7
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    • pp.420-433
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    • 2016
  • The purpose of this study is to improve the calibration matrixes of 2-D and 3-D convective rainfall rates (CRR) using the brightness temperature of the infrared $10.8{\mu}m$ channel (IR), the difference of brightness temperatures between infrared $10.8{\mu}m$ and vapor $6.7{\mu}m$ channels (IR-WV), and the normalized reflectance of the visible channel (VIS) from the COMS satellite and rainfall rate from the weather radar for the period of 75 rainy days from April 22, 2011 to October 22, 2011 in Korea. Especially, the rainfall rate data of the weather radar are used to validate the new 2-D and 3-DCRR calibration matrixes suitable for the Korean peninsula for the period of 24 rainy days in 2011. The 2D and 3D calibration matrixes provide the basic and maximum CRR values ($mm\;h^{-1}$) by multiplying the rain probability matrix, which is calculated by using the number of rainy and no-rainy pixels with associated 2-D (IR, IR-WV) and 3-D (IR, IR-WV, VIS) matrixes, by the mean and maximum rainfall rate matrixes, respectively, which is calculated by dividing the accumulated rainfall rate by the number of rainy pixels and by the product of the maximum rain rate for the calibration period by the number of rain occurrences. Finally, new 2-D and 3-D CRR calibration matrixes are obtained experimentally from the regression analysis of both basic and maximum rainfall rate matrixes. As a result, an area of rainfall rate more than 10 mm/h is magnified in the new ones as well as CRR is shown in lower class ranges in matrixes between IR brightness temperature and IR-WV brightness temperature difference than the existing ones. Accuracy and categorical statistics are computed for the data of CRR events occurred during the given period. The mean error (ME), mean absolute error (MAE), and root mean squire error (RMSE) in new 2-D and 3-D CRR calibrations led to smaller than in the existing ones, where false alarm ratio had decreased, probability of detection had increased a bit, and critical success index scores had improved. To take into account the strong rainfall rate in the weather events such as thunderstorms and typhoon, a moisture correction factor is corrected. This factor is defined as the product of the total precipitable waterby the relative humidity (PW RH), a mean value between surface and 500 hPa level, obtained from a numerical model or the COMS retrieval data. In this study, when the IR cloud top brightness temperature is lower than 210 K and the relative humidity is greater than 40%, the moisture correction factor is empirically scaled from 1.0 to 2.0 basing on PW RH values. Consequently, in applying to this factor in new 2D and 2D CRR calibrations, the ME, MAE, and RMSE are smaller than the new ones.

A Study on Red Cell Protoporphyrin Concentration and Iron Metabolism (적혈구(赤血球) Protoporphyrin과 철분대사(鐵分代謝)에 관(關)한 연구(硏究))

  • Cho, Kyung-Hwan;Tchai, Bum-Suk
    • Journal of Nutrition and Health
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    • v.7 no.3
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    • pp.1-13
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    • 1974
  • The relative state of human iron storage may be ascertained more reliably through determination of the serum iron, iron binding capacity, transferrin saturation and absorption of radioactive iron in conjunction with studies of red cell morphology than from the study of red cell morphology alone. Recent investigations have shown that there is an increase in red cell protoporphyrin concentration in iron deficiency anemia. The significance of the red cell protoporphyrin has been discussed greatly during the years since its discovery. Two of the main factors which appear to influence the amaunt of protoporphyrin are increased erythropoiesis and factors interfering with the utilization of iron in the synthesis of hemoglobin, and iron deficiency. Recently Heller et al. have described a simplified method for blood protoporphyrin assay and this technique could be used assess nutritional iron status, wherein even minor insufficiencies are detectable as increased protoporphyrin concentrations. Based on the evaluation of the relationship between nutritional iron status and red cell protoporphyrin as an index suitable for the detection of the iron deficiency is described in this paper. RESULTS 1. Hemoglobin Concentrations and Anthropometric Measurements. The mean and standard deviations of the various anthropometric measurements of different age and sex groups are shown in table 1. There measurements have been compared with the Korean Standard. In the absence of local standards for arm circumference and skin-fold thickness over triceps, they have been compared with the standard from Jelliffe. Table 2,3, and 4 give anthropometric measurements and frequency (%) of anemia in children surveyed. The mean height of the children studid was 10 to 20 percent; below the Korean Standard. The distribution of height below 80 percent of the Standard was 21.2 percent, however, among anemic group this percentage was 27.7 percent. In general, the mean weight of the children was 10 to 15 percent below the Korean Standard. The percentage of children with weight less than 80 percent of the Standard was about 35 percent. But in the anemic group of the children, this percentage was 44 percent. The mean arm circumference was about 15 percent lower than the Jelliffe's standard. 61.2 percent of the children had values of arm circumference below 80 percent of the standard. Children with low hemoglobin levels, this percentage was 80 percent. The mean skinfold thickness over the triceps of the children studied was about 25 Percent lower than the Jelliffe's standard and 61.2 percent of the children had the value less than 80 percent of the standard. Among anemic children, this percentage was 70.8%. As may be seen from table 5, the mean hemoglobin concentration of the total group was 11.3g/100ml. Hemoglobin concentration was less than 11.0g/100ml. in 65(36.5%) of the 178 children. The degree of anemia in most of these children was mild with a hemoglobin level of less than 8.0g/100ml. found in only one child. In general, the prevalence of anemia was high in female children than male and decreased its frequency with increasing age. Relatively close relationship was observed between hemoglobin level and anthrophometric measurements especially high between arm circumference and skinfold thickness and hemoglobin but very low in height and low in weight and hemoglobin level, estimated by chi-square value. II. Serum iron, Transferrin saturation (1) Serum iron, and transferrin saturation Serum iron, transferrin saturation and red cell protoporphyrin concentrations were estimated in sub-sample of 84 children from 1 to 6 years and 24 older children between 7 and 13 years of age. The findings are presented in table 6. The mean serum iron concentration of the total group was 59ug/100ml. However, the level incrased with age from 36.6ug/100ml. (1-3years) to 80.8ug/100ml. (7-13 years). 60 percent of these children had a serum iron level less than 50ug/10ml. in the 1-3 years age group and 31.4 percent for 4-6 years group. These contrast with the finding of 12.5 percent anemic children in the 7-13 years age group. The mean transferrin saturation for the total group was 18.1 percent and frequency of anemia by transferrin saturation was observed same pattern as serum iron concentration. (2) Red cell protoporphyrin concentrations. (a) Red cell protoporphrin levels of children: Red cell protoporphyrin and other biochemical data are shown in table 4. The mean concentration in red cell of all children was fround 46.3ug/100ml. RBC. and differences with age groups were observed; in the age group 1-3 years, the mean concentration was $59.5{\pm}32.14$ ug/100ml. RBC; 4-6 years $44.1{\pm}22.57$ ug/100ml. RBC. and 7-13 years, $39.0{\pm}13.56$ ug/100ml. RBC. (b) Normal protoporphyrin values in adults: It was observed that in 10 normal adult males studied here the level of protoporphyrin in red cell ranged from 18 to 54 ug/100ml. RBC. and the mean concentration was $47.5{\sim}14.47$ ug/100ml. RBC. Other biochemical determination made on the same subjects are presented in table 8. (c) Red tell protoporphyrin concentration of occupational blood donors: The results of analyses for red cell protoporphyrin as well as serum iron, transferrin saturation and hemoglobin in the 76 blood donors are presented in table 7 and 8. In this experiment, donors were selected at random, however, most of them bled repeatedly because of poor economic situation, I doubt. Table 9 shows the distribution of red cell protoporphyrin concentration and hemoglobin concentration of occupational donors. The mean hemoglobin value for the total was 11.9 g/100 ml. When iron deficiency anemia is defined as a transferrin saturation below 15%, prevalence of anemia was 47.4 percent and the mean serum iron was 27.1ug/100ml. and red cell protoporphyrin, 168.3ug/100ml. RBC. However, mean serum iron and protoporphyrin concentration of above 15% transferrin saturation were 11.6 ug/100 ml. and 58.8 ug/100 ml. RBC. respectively. The mean Protoporphyrin concentration of non-anemic (above 15% transferrin saturation) donors was slightly higher than the results of normal adult males.

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Prevalence Report of Transovarian Transmitted Diseases in the Breeder Chickens, Korea (국내 종계에서 난계대 전염병 감염 실태 보고)

  • Kwon, Yong-Kuk;Kang, Min-Soo;Oh, Jae-Young;Jung, Byeong-Yeal;Kim, Hye-Ryoung;Kim, Ha-Young;Shin, So-Yeon;Kwon, Jun-Hun;Chung, Gab-Soo
    • Korean Journal of Poultry Science
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    • v.37 no.3
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    • pp.237-245
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    • 2010
  • A survey of transovarially transmitted diseases, including salmonellosis [(pullorum disease; PD)/(fowl typhoid; FT)], mycoplasmosis, avian infectious anemia (CIA), and fowl adenovirus infection was conducted in the breeder chickens from August to December in 2009. The numbers of flocks sampled out were: Grand Parents Stock (GPS), 45; Parents Stock (PS) 1,018, Baeksemi breeder (BSB) 54. The seroprevalence of salmonellosis (PD/FT) were 0% (GPS), 3.2% (PS), and 3% (BSB), respectively. A total of 983 chicken farms were affected with FT outbreaks between 2000 and 2008. The incidence of FT in commercial broilers, Baeksemi, commercial layers, native chickens, and broiler breeders was 44.3%, 26.2%, 15.7%, 12.6% and 1.08%, respectively. Of the affected broilers, over 90% birds were under 2 weeks of age, indicating it was possible that they were infected with S. gallinarum via vertical transmission. The sero-positive flocks against Mycoplasma gallisepticum (MG) were 71.1% (GPS), 88.7% (PS), 88.7% (BSB), while the rates of positive flocks against Mycoplasma synoviae (MS) were 86.0% (GPS), 77.0% (PS), and 98.0% (BSB). In GP and parent farms, the detection rates on specific genes of CIA virus were 19/45 (42.2%), and 169/1039 (18.0%), respectively, whereas the seroprevalence of CIA were 86.0% in GPS and 93.7% in PS flocks. In addition, positive flocks of fowl adenoviruses were 4.4% (GPS), 2.7% (PS) and 9.35% (BSB), respectively. As the results, avian mycoplasmosis and CIA have been more prevailing in chicken breeder than avian salmonellosis and fowl adenovirus infection in Korea.

Feasibility Study of the Radiophotoluminescent Glass Dosimeter for High-energy Electron Beams (유리선량계를 이용한 고에너지 전자선 측정 이용 가능성에 관한 연구)

  • Son, Ki-Hong;Jung, Hai-Jo;Shin, Sang-Hun;Lee, Hyun-Ho;Lee, Sung-Hyun;Kim, Mi-Sook;Ji, Young-Hoon;Kim, Kum-Bae
    • Progress in Medical Physics
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    • v.22 no.1
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    • pp.52-58
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    • 2011
  • Our goal is to assess the suitability of a glass dosimeter on detection of high-energy electron beams for clinical use, especially for radiation therapy. We examined the dosimetric characteristics of glass dosimeters including dose linearity, reproducibility, angular dependence, dose rate dependence, and energy dependence of 5 different electron energy qualities. The GD was irradiated with high-energy electron beams from the medical linear accelerator andgamma rays from a cobalt-60 teletherapy unit. All irradiations were performed in a water phantom. The result of the dose linearity for high-energy electron beams showed well fitted regression line with the coefficient of determination; $R^2$ of 0.999 between 6 and 20 MeV. The reproducibility of GDs exposed to the nominal electron energies 6, 9, 12, 16, and 20 MeV was ${\pm}1.2%$. In terms of the angular dependence to electron beams,GD response differences to the electron beam were within 1.5% for angles ranging from $0^{\circ}$ to $90^{\circ}$ and GD's maximum response differencewas 14% lower at 180o. In the dose rate dependence, measured dose values were normalized to the value obtained from 500 MU/min. The uncertainties of dose rate were measured within ${\pm}1.5%$ except for the value from 100 MU/min. In the evaluation of the energy dependence of the GD at nominal electron energies between 6 and 20 MeV, we obtained lower responses between 1.1% and 4.5% based on cobalt-60 beam. Our results show that GDs have a considerable potentiality for measuring doses delivered by high-energy electron beams.

Variation of Contents and Color Difference of Anthocyanin by Different Cultivation Year in Black Soybean Seed (재배연도에 따른 검정콩 종자의 안토시아닌 함량 및 색차변이)

  • Joo Yong-Ha;Park Jae-Hun;Choung Myoung-Gun;Yun Seung-Gil;Chung Kil-Woong
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.49 no.6
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    • pp.507-511
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    • 2004
  • This research was carried out to offer the basic informations about new varietal breeding for specific use and physiological characteristics through investigation of detection, content variation and color difference of anthocyanin individual pigments within seed coats in domestic black soybean. The seed of thirteen cultivars such as Geomjeongkong 1, Geomjeongkong 2, Seonheugkong, Tawonkong, Ilpumgeomjeongkong, Geomjeongolkong, Cheongjakong, Jinju 1, Heugcheongkong, Juinunikong-Y, Juinunikong-G, Geomjeongkong 3, Geomjeongkong 4 was tested. C3G (cyanidin-3-glucoside) was detected in only Geomjeongkong 1 and Seonheugkong but D3G (delphinidin-3-glucoside) and C3G were found in Heugcheongkong. The rest cultivars that there were three anthocyanins such as D3G, C3G, and Pt3G (petunidin-3-glucoside). Anthocyanin content of tested cultivars showed a high variation. The ranges of D3G, C3G, Pt3G, and TA (total anthocyanin) contents were $0.55\~2.63mg/g,\;2.77\~8.38mg/g,\;0.38\~5.65mg/g,\;and\;3.32\~16.92mg/g$, respectively. These contents showed variation among cultivars as well as variation between two years, 2001-2002. As a result of variation of anthocyanin color difference, the ranges of L (lightness), a (redness), and b (yellowness) as Hunter's value were $34.09\~42.89,\;12.77\!22.85,\;and\;5.36\~12.10$, respectively, and these color differences showed variation among cultivars and also variation between two years, 2001-2002. D3G, C3G, Pt3G, and TA showed reciprocally a positive correlation being representive of high significance.

A Study on the Screening of the Novel Genes Associated with Lysosomal Trafficking and Mutation Detection in Fibroblasts of the Patients with Mucolipidosis type II and III (리소좀 교통 이상을 초래하는 뮤코지방증 2형과 3형 환자의 섬유아세포를 이용한 신규 유전자 탐색 및 돌연변이에 대한 연구)

  • Song, Seng Mi;Chang, Soo Hee;Paik, Kyung Hoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.5 no.1
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    • pp.65-75
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    • 2005
  • Purpose: To understand genetic differences and similarities between mucolipidosis and control. Methods: Using the fibroblast of the mucolipidosis II and control, forward and reverse subtracted libraries were constructed. Among these clones, we investigated mutations in the GNPTA (MGC4170) gene, which codes for the ${\alpha}/{\beta}$ subunits of phosphotransferase, and in the GNPTAG gene, which codes for the ${\gamma}$ subunits in 5 Korean patients with mucolipidosis type II or IIIA. Result: Several differentially expressed cDNAs were cloned and their sequences were determined. Mutation analysis of the interested gene, GNPTA was performed and we identified 7 mutations in the GNPTA gene, but none in the GNPTAG gene. The mutations in type II patients included p.Q104X(c.310C>T), p.R1189X(c.3565C>T), p.S1058X(c.3173C>G), p.W894X(c.2681G>A) and p.H1158fsX15(c.3474_3475delTA), all of which are non-sense or frame shift mutations. However, a splicing site mutation, IVS13+1G>A (c.2715+1G>A) was detected along with a non-sense or a frame shift mutation (p.R1189X or p.E858fsX3(c.2574_2575delGA)) in two mucolipidosis type IIIA patients. Conclusion: This report shows that mutations in the GNPTA gene coding for the ${\alpha}{\beta}$subunits of phosphotransferase, and not mutations in the GNPTAG gene, account for most of mutations found in Korean patients with mucolipidosis type II or IIIA.

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Electrochemical Evaluation of Cadmium and Lead by Thiolated Carbon Nanotube Electrodes (티올화된 탄소나노튜브 전극을 이용한 카드뮴과 납의 전기화학적 분석)

  • Yang, Jongwon;Kim, Lae-Hyun;Kwon, Yongchai
    • Applied Chemistry for Engineering
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    • v.24 no.5
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    • pp.551-557
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    • 2013
  • In the present study, pristine carbon nanotube (p-CNT) and thiolated carbon naotube (t-CNT) electrodes were investigated to improve their detectabilities for cadmium (Cd) and lead (Pb). In addition, we evaluate which reaction mechanism is used when the electrolyte contains both Cd and Pb metals. Square wave stripping was employed for analyzing the sensitivity for the metals. A frequency of 30 Hz, a deposition potential of -1.2 V vs. Ag/AgCl and a deposition time of 300 s were used as optimal SWSV parameters. t-CNT electrodes show the better sensitivity for both Cd and Pb metals than that of p-CNT electrodes. In case of Cd, sensitivities of p-CNT and t-CNT electrodes were $3.1{\mu}A/{\mu}M$ and $4.6{\mu}A/{\mu}M$, respectively, while the sensitivities for Pb were $6.5{\mu}A/{\mu}M$ (p-CNT) and $9.9{\mu}A/{\mu}M$ (t-CNT), respectively. The better sensitivity of p-CNT electrodes is due to the enhancement in the reaction rate of metal ions that are facilitated by thiol groups attached on the surface of CNT. When sensitivity was measured for the detection of Cd and Pb metals present simultaneously in the electrolyte, Pb indicates better sensitivity than Cd irrespective of electrode types. It is ascribed to the low standard electrode potential of Pb, which then promotes the possibility of oxidation reaction of the Pb metal ions. In turn, the Pb metal ions are deposited on the electrode surface faster than that of Cd metal ions and cover the electrode surface during deposition step, and thus Pb metals that cover the large portion of the surface are more easily stripped than that of Cd metals during stripping step.

Blood Pressure of Healthy Newborns in the First Week of Life (분당 차병원에서 출생한 신생아 혈압치 비교)

  • Lee Jung-Sun;Park Shin-I;Park Hye-Won;Kim Se-Hyun;Hah Tae-Sun;Lee Jun-Ho
    • Childhood Kidney Diseases
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    • v.9 no.1
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    • pp.8-14
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    • 2005
  • Purpose : This study was peformed to study normative blood pressure data in full-term neonates that may be used to facilitate Identification of neonatal hypertension.Methods : 383 newborns born in our hospital from May 2003 to January 2004 were enrolled in this study Using an oscillometric device(BP-88 NEXT, COLIN Corp.), their blood pressures were measured more than one time within a week after birth. According to each clinical variable such as sex, delivery mode, birth weight, gestational age and presence of maternal disease or perinatal problems, we divided the population into groups and calculated the mean blood pressures of each group. We compared mean blood pressures between the divided groups according to each clinical variable statistically.Results : Mean systolic and diastolic blood pressure of the Population was 70.8$\pm$ 10.9 mmHg and 43.4 $\pm$ 8.0 mmHg, respectively. There was no satistically significant difference in blood pressure according to clinical variables. Mean systolic pressure showed positive correlation with birth weight and gestational age(r=0.1420, 0.03130).Conclusion : Our results are almost in agreement with Zubrow's data from 695 newborns in U.S.A, 1995. Our data may be helpful for early detection and management of neonatal hypertension, thereby maintaining renal function ,and preventing possible complications of renal disease.

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