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Identification of Homozygous Mutations in Two Consanguineous Families with Hearing Loss (청력 장애를 나타내는 두 근친 가계로부터 동형접합성 돌연변이의 분리)

  • Lim, Si On;Park, Hye Ri;Jung, Na Young;Park, Cho Eun;Kanwal, Sumaira;Chung, Ki Wha
    • Journal of Life Science
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    • v.31 no.5
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    • pp.453-463
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    • 2021
  • Hearing loss is a group of clinically and genetically heterogeneous disorders characterized by congenital- to adult-onset deafness with frequent additional symptoms such as myopathy, nephropathy, and optic disorders. It is commonly divided into two types: syndromic, with no other symptoms, and nonsyndromic, with other symptoms. Autosomal recessive hearing loss is relatively frequent in Pakistan, which may be due in part to frequent consanguineous marriages. This study was performed by whole exome sequencing to determine the genetic causes in two Pakistani consanguineous families with autosomal recessive hearing loss. We identified a pathogenic homozygous variant (p.Leu326Gln in MYO7A) in a family with prelingual-onset hearing loss and two variants of uncertain significance (p.Val3094Ile in GPR98 and p.Asp56Gly in PLA2G6) in a family with early-onset hearing loss concurrent with muscular atrophy. The missense mutations in MYO7A and PLA2G6 were located in the highly conserved sites, and in silico analyses predicted pathogenicity, while the GPR98 mutation was located in the less conserved site, and most in silico analysis programs predicted its nonpathogenic effect. Homozygosity mapping showed that both alleles of the homozygous mutations identified in each family originated from a single founder; spread from this single source might be due to consanguineous marriages. This study will help provide exact molecular diagnosis and treatment for autosomal recessive hearing loss patients in Pakistan.

Development and Evaluation of Multiplex PCR for the Detection of Carbapenemase-Producing Enterobacteriaceae (카바페넴분해효소 생성 장내세균 검출을 위한 Multiplex PCR의 개발 및 평가)

  • Kim, Si Hyun;Bae, Il Kwon;Kim, Na Young;Song, Sae Am;Kim, Sunjoo;Jeong, Joseph;Shin, Jeong Hwan
    • Annals of Clinical Microbiology
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    • v.22 no.1
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    • pp.9-13
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    • 2019
  • Background: The isolation of carbapenemase-producing Enterobacteriaceae (CPE) has become increasingly common. Continuous surveillance for these organisms is essential because their infections are closely related to outbreaks of illness and are associated with high mortality rates. The aim of this study was to develop and evaluate multiplex PCR as a means of detecting several important CPE genes simultaneously. Methods: We aimed to develop a multiplex PCR that could detect seven CPE genes simultaneously. The multiplex PCR was composed of seven primer sets for the detection of KPC, IMP, VIM, NDM-1, GES, OXA-23, and OXA-48. We designed different PCR product sizes of at least 100 bp. We evaluated the performance of this new test using 69 CPE-positive clinical isolates. Also, we confirmed the specificity to rule out false-positive reactions by using 71 carbapenem-susceptible clinical strains. Results: A total of 69 CPE clinical isolates showed positive results and were correctly identified as KPC (N=14), IMP (N=13), OXA-23 (N=12), OXA-48 (N=11), VIM (N=9), GES (N=5), and NDM (N=5) by the multiplex PCR. All 71 carbapenem-susceptible clinical isolates, including Enterococcus faecalis, Escherichia coli, Klebsiella pneumoniae, Acinetobacter baumannii, and Pseudomonas aeruginosa, showed negative results. Conclusion: This multiplex PCR can detect seven CPE genes at a time and will be useful in clinical laboratories.

Effects of Strains and Enviromental Factors on Economic Traits in Korean Native Chicken (한국재래닭의 경제 형질에 미치는 계통 및 환경의 효과)

  • Sang, Byeong-Don;Choi, Cheol-Hwan;Kim, Hak-Gyu;Kim, Si-Dong;Jang, Byeong-Gwi;Na, Jae-Cheon;Yu, Dong-Jo;Lee, Sang-Jin;;Lee, Jun-Heon
    • Korean Journal of Poultry Science
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    • v.30 no.4
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    • pp.235-244
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    • 2003
  • This study was carried out to estimate the effects of strain and generation on the major production performances of Korean native chicken. The data were collected from 11,583 birds of the 7 generations over the year 1995 through 2001 at National Livestock Research Institute, Korea. Results obtained were summarized as follows: The body weights at 150 and 270 days of age were 1,557.7 and 1880.7, 1,471.7 and 1,738.2, 1,393.5 and 1,694.9, 1,591.2 and 1,910.0, 1,545.6 and 1,763.6g in Red Brown, Yellow Brown, Gray Brown, Black, and White strains, respectively. The Coefficient of Variations (CVs) of the body weights at 150 and 270 days of age were 9.65~13.79% and 13.29~15.16%. The ages at first egg were 150.0, 148.3, 149.5, 152,8 and 147.7 days in Red Brown, Yellow Brown, Gray Brown, Black and White strains, respectively and the CVs were between 9.33 and 10.11%. The egg weights at the first egg and 270 days of age were 33.2 and 50.8, 32.2 and 49.2, 32.2 and 49.1, 33.0 and 50.0, 30.7 and 47.8g respectively. The CVs of the egg weights of the first egg and at 270 days of age were 13.54~15.27% and 6.93~7.36%. The numbers of eggs produced by 270 days of age were 77.0, 79.3, 77.3, 73,7, 75.4, respectively, and observed CVs were between 29.98~36.99%. The significant strain effects were investigated in all the major economic traits in Korean native chicken. The significant strain effects were investigated in all the major economic traits in Korean native chicken. The highest least square (LS) means of the body weights at 150 and 270 days of age were observed in Black strain as 1,594.38 and 1,911.57g. The earliest LS mean of the ages at first egg was 146.88days in White strain. The heaviest LS means of egg weights at the first egg and 270 days of age were observed in Red Brown strain as 32.20 and 50.74g. The LS mean of the largest number of egg production was 79.50 eggs in Yellow Brown strain. Also, The significant generation effects were investigated in all the major economic traits. The highest LS means of the body weights at 150 and 270 days of age were observed in the generation 3 as 1,599.74 and 1,905.01g. The earliest LS mean of the age at first egg was 143.31 days in 4th generation. The heaviest LS means of egg weights at the first egg and 270 days of age were observed in 7th and 5th generation as 35.68 and 50.42g. The LS means of the largest number of egg production was 78.53 eggs in generation 6. In general, light body weight, short time for the age at first egg, heavy egg weight, and large number of egg production were observed as the generation proceeded.

Changes of Brain Natriuretic Peptide Levels according to Right Ventricular HemodynaMics after a Pulmonary Resection (폐절제술 후 우심실의 혈역학적 변화에 따른 BNP의 변화)

  • Na, Myung-Hoon;Han, Jong-Hee;Kang, Min-Woong;Yu, Jae-Hyeon;Lim, Seung-Pyung;Lee, Young;Choi, Jae-Sung;Yoon, Seok-Hwa;Choi, Si-Wan
    • Journal of Chest Surgery
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    • v.40 no.9
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    • pp.593-599
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    • 2007
  • Background: The correlation between levels of brain natriuretic peptide (BNP) and the effect of pulmonary resection on the right ventricle of the heart is not yet widely known. This study aims to assess the relationship between the change in hemodynamic values of the right ventricle and increased BNP levels as a compensatory mechanism for right heart failure following pulmonary resection and to evaluate the role of the BNP level as an index of right heart failure after pulmonary resection. Material and Method: In 12 non small cell lung cancer patients that had received a lobectomy or pnemonectomy, the level of NT-proBNP was measured using the immunochemical method (Elecsys $1010^{(R)}$, Roche, Germany) which was compared with hemodynamic variables determined through the use of a Swan-Garz catheter prior to and following the surgery. Echocardiography was performed prior to and following the surgery, to measure changes in right ventricular and left ventricular pressures. For statistical analysis, the Wilcoxon rank sum test and linear regression analysis were conducted using SPSSWIN (version, 11.5). Result: The level of postoperative NT-proBNP (pg/mL) significantly increased for 6 hours, then for 1 day, 2 days, 3 days and 7 days after the surgery (p=0.003, 0.002, 0.002, 0.006, 0.004). Of the hemodynamic variables measured using the Swan-Ganz catheter, the mean pulmonary artery pressure after the surgery when compared with the pressure prior to surgery significantly increased at 0 hours, 6 hours, then 1 day, 2 days, and 3 days after the surgery (p=0.002, 0,002, 0.006, 0.007, 0.008). The right ventricular pressure significantly increased at 0 hours, 6 hours, then 1 day, and 3 days after the surgery (p=0.000, 0.009, 0.044, 0.032). The pulmonary vascular resistance index [pulmonary vascular resistance index=(mean pulmonary artery pressure-mean pulmonary capillary wedge pressure)/cardiac output index] significantly increased at 6 hours, then 2 days after the surgery (p=0.008, 0.028). When a regression analysis was conducted for changes in the mean pulmonary artery pressure and NT-proBNP levels after the surgery, significance was evident after 6 hours (r=0.602, p=0.038) and there was no significance thereafter. Echocardiography displayed no significant changes after the surgery. Conclusion: There was a significant correlation between changes in the mean pulmonary artery pressure and the NT-proBNP level 6 hours after a pulmonary resection. Therefore, it can be concluded that changes in NT-proBNP level after a pulmonary resection can serve as an index that reflects early hemodynamic changes in the right ventricle after a pulmonary resection.

Studies on the Rice Yield Decreased by Ground Water Irrigation and Its Preventive Methods (지하수 관개에 의한 수도의 멸준양상과 그 방지책에 관한 연구)

  • 한욱동
    • Magazine of the Korean Society of Agricultural Engineers
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    • v.16 no.1
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    • pp.3225-3262
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    • 1974
  • The purposes of this thesis are to clarify experimentally the variation of ground water temperature in tube wells during the irrigation period of paddy rice, and the effect of ground water irrigation on the growth, grain yield and yield components of the rice plant, and, furthermore, when and why the plant is most liable to be damaged by ground water, and also to find out the effective ground water irrigation methods. The results obtained in this experiment are as follows; 1. The temperature of ground water in tube wells varies according to the location, year, and the depth of the well. The average temperatures of ground water in a tubewells, 6.3m, 8.0m deep are $14.5^{\circ}C$ and $13.1^{\circ}C$, respercively, during the irrigation period of paddy rice (From the middle of June to the end of September). In the former the temperature rises continuously from $12.3^{\circ}C$ to 16.4$^{\circ}C$ and in the latter from $12.4^{\circ}C$ to $13.8^{\circ}C$ during the same period. These temperatures are approximately the same value as the estimated temperatures. The temperature difference between the ground water and the surface water is approximately $11^{\circ}C$. 2. The results obtained from the analysis of the water quality of the "Seoho" reservoir and that of water from the tube well show that the pH values of the ground water and the surface water are 6.35 and 6.00, respectively, and inorganic components such as N, PO4, Na, Cl, SiO2 and Ca are contained more in the ground water than in the surface water while K, SO4, Fe and Mg are contained less in the ground water. 3. The response of growth, yield and yield components of paddy rice to ground water irrigation are as follows; (l) Using ground water irrigation during the watered rice nursery period(seeding date: 30 April, 1970), the chracteristics of a young rice plant, such as plant height, number of leaves, and number of tillers are inferior to those of young rice plants irrigated with surface water during the same period. (2) In cases where ground water and surface water are supplied separately by the gravity flow method, it is found that ground water irrigation to the rice plant delays the stage at which there is a maximum increase in the number of tillers by 6 days. (3) At the tillering stage of rice plant just after transplanting, the effect of ground water irrigation on the increase in the number of tillers is better, compared with the method of supplying surface water throughout the whole irrigation period. Conversely, the number of tillers is decreased by ground water irrigation at the reproductive stage. Plant height is extremely restrained by ground water irrigation. (4) Heading date is clearly delayed by the ground water irrigation when it is practised during the growth stages or at the reproductive stage only. (5) The heading date of rice plants is slightly delayed by irrigation with the gravity flow method as compared with the standing water method. (6) The response of yield and of yield components of rice to ground water irrigation are as follows: \circled1 When ground water irrigation is practised during the growth stages and the reproductive stage, the culm length of the rice plant is reduced by 11 percent and 8 percent, respectively, when compared with the surface water irrigation used throughout all the growth stages. \circled2 Panicle length is found to be the longest on the test plot in which ground water irrigation is practised at the tillering stage. A similar tendency as that seen in the culm length is observed on other test plots. \circled3 The number of panicles is found to be the least on the plot in which ground water irrigation is practised by the gravity flow method throughout all the growth stages of the rice plant. No significant difference is found between the other plots. \circled4 The number of spikelets per panicle at the various stages of rice growth at which_ surface or ground water is supplied by gravity flow method are as follows; surface water at all growth stages‥‥‥‥‥ 98.5. Ground water at all growth stages‥‥‥‥‥‥62.2 Ground water at the tillering stage‥‥‥‥‥ 82.6. Ground water at the reproductive stage ‥‥‥‥‥ 74.1. \circled5 Ripening percentage is about 70 percent on the test plot in which ground water irrigation is practised during all the growth stages and at the tillering stage only. However, when ground water irrigation is practised, at the reproductive stage, the ripening percentage is reduced to 50 percent. This means that 20 percent reduction in the ripening percentage by using ground water irrigation at the reproductive stage. \circled6 The weight of 1,000 kernels is found to show a similar tendency as in the case of ripening percentage i. e. the ground water irrigation during all the growth stages and at the reproductive stage results in a decreased weight of the 1,000 kernels. \circled7 The yield of brown rice from the various treatments are as follows; Gravity flow; Surface water at all growth stages‥‥‥‥‥‥514kg/10a. Ground water at all growth stages‥‥‥‥‥‥428kg/10a. Ground water at the reproductive stage‥‥‥‥‥‥430kg/10a. Standing water; Surface water at all growh stages‥‥‥‥‥‥556kg/10a. Ground water at all growth stages‥‥‥‥‥‥441kg/10a. Ground water at the reproductive stage‥‥‥‥‥‥450kg/10a. The above figures show that ground water irrigation by the gravity flow and by the standing water method during all the growth stages resulted in an 18 percent and a 21 percent decrease in the yield of brown rice, respectively, when compared with surface water irrigation. Also ground water irrigation by gravity flow and by standing water resulted in respective decreases in yield of 16 percent and 19 percent, compared with the surface irrigation method. 4. Results obtained from the experiments on the improvement of ground water irrigation efficiency to paddy rice are as follows; (1) When the standing water irrigation with surface water is practised, the daily average water temperature in a paddy field is 25.2$^{\circ}C$, but, when the gravity flow method is practised with the same irrigation water, the daily average water temperature is 24.5$^{\circ}C$. This means that the former is 0.7$^{\circ}C$ higher than the latter. On the other hand, when ground water is used, the daily water temperatures in a paddy field are respectively 21.$0^{\circ}C$ and 19.3$^{\circ}C$ by practising standing water and the gravity flow method. It can be seen that the former is approximately 1.$0^{\circ}C$ higher than the latter. (2) When the non-water-logged cultivation is practised, the yield of brown rice is 516.3kg/10a, while the yield of brown rice from ground water irrigation plot throughout the whole irrigation period and surface water irrigation plot are 446.3kg/10a and 556.4kg/10a, respectivelely. This means that there is no significant difference in yields between surface water irrigation practice and non-water-logged cultivation, and also means that non-water-logged cultivation results in a 12.6 percent increase in yield compared with the yield from the ground water irrigation plot. (3) The black and white coloring on the inside surface of the water warming ponds has no substantial effect on the temperature of the water. The average daily water temperatures of the various water warming ponds, having different depths, are expressed as Y=aX+b, while the daily average water temperatures at various depths in a water warming pond are expressed as Y=a(b)x (where Y: the daily average water temperature, a,b: constants depending on the type of water warming pond, X; water depth). As the depth of water warning pond is increased, the diurnal difference of the highest and the lowest water temperature is decreased, and also, the time at which the highest water temperature occurs, is delayed. (4) The degree of warming by using a polyethylene tube, 100m in length and 10cm in diameter, is 4~9$^{\circ}C$. Heat exchange rate of a polyethylene tube is 1.5 times higher than that or a water warming channel. The following equation expresses the water warming mechanism of a polyethylene tube where distance from the tube inlet, time in day and several climatic factors are given: {{{{ theta omega (dwt)= { a}_{0 } (1-e- { x} over { PHI v })+ { 2} atop { SUM from { { n}=1} { { a}_{n } } over { SQRT { 1+ {( n omega PHI) }^{2 } } } } LEFT { sin(n omega t+ { b}_{n }+ { tan}^{-1 }n omega PHI )-e- { x} over { PHI v }sin(n omega LEFT ( t- { x} over {v } RIGHT ) + { b}_{n }+ { tan}^{-1 }n omega PHI ) RIGHT } +e- { x} over { PHI v } theta i}}}}{{{{ { theta }_{$\infty$ }(t)= { { alpha theta }_{a }+ { theta }_{ w'} +(S- { B}_{s } ) { U}_{w } } over { beta } , PHI = { { cpDU}_{ omega } } over {4 beta } }}}} where $\theta$$\omega$; discharged water temperature($^{\circ}C$) $\theta$a; air temperature ($^{\circ}C$) $\theta$$\omega$';ponded water temperature($^{\circ}C$) s ; net solar radiation(ly/min) t ; time(tadian) x; tube length(cm) D; diameter(cm) ao,an,bn;constants determined from $\theta$$\omega$(t) varitation. cp; heat capacity of water(cal/$^{\circ}C$ ㎥) U,Ua; overall heat transfer coefficient(cal/$^{\circ}C$ $\textrm{cm}^2$ min-1) $\omega$;1 velocity of water in a polyethylene tube(cm/min) Bs ; heat exchange rate between water and soil(ly/min)

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