Lee, Jun;Kim, Min-ji;Yoo, Sukdong;Yoon, Ju Young;Kim, Yoo-Mi;Cheon, Chong Kun
Journal of The Korean Society of Inherited Metabolic disease
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v.21
no.1
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pp.15-21
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2021
Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.
Background: Cyclin-dependent kinase (CDK) inhibitors are family of molecules that regulate the cell cycle. The CDKN2, a CDK4 inhibitor, also called p16, has been implicated in human tumorigenesis. The CDKN2 inhibits the cyclin/CDK complexes which regulate the transition from G1 to S phase of cell cycle. There is a previous report that homozygous deletion of CDKN2 region on chromosome 9p21 was detected frequently in astrocytoma, glioma and osteosarcoma, less frequently in lung cancer, leukemia and ovarian cancer, but not detected in colon cancer and neuroblastoma. However, little is known about the relationship between CDKN2 and laryngeal cancer. Therefore this study was initiated to investigate the role of CDKN2 in human laryngeal squamous cell carcinoma development.1) Materials and methods: We used 5 human laryngeal carcinoma cell lines whether they have deletions or losses of CDKN2 gene expression by DNA-PCR or RT-PCR, respectively. We examined 8 fresh frozen human laryngeal cancer tissues to detect the loss of heterozygosity (LOH) of CDKN2. PCR was performed by using microsatellite markers of short arm of human chromosome 9 (D9S126, D9S144, D9S156, D9S161, D9S162, D9S166, D9S171, D9S200 and D9SIFNA). For informative cases, allelic loss was scored if the signal of one allele was significantly decreased in tumor DNA when compared to the same allele in normal DNA. Results: The CDKN2 DNA deletion was observed in 3 cell lines. The CDKN2 mRNA expression was observed in only one cell line, which was very weak. LOH was detected in 7 cases (87.5%). Conclusion: These results suggest that CDKN2 plays a role in the carcinogenesis of human laryngeal squamous cell carcinoma.
An, Jong Bae;Lee, Woo-Jin;Hwang, Sung Hwan;Kim, Gye Won;Kim, Myoung Jin;Jung, Eun Joo;Rho, Byung Sup
Korean Journal of Optics and Photonics
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v.23
no.1
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pp.12-16
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2012
In the paper, we fabricated a Ni master with $45^{\circ}$-mirror structures for flexible waveguide fabrication. The flexible waveguide films with embedded $45^{\circ}$-angled mirrors at the waveguide ends were successfully fabricated using a UV-imprint process. Next, in order to enhance the reflectivity of the mirrors, Ni(3 nm)-Au(200 nm) bilayers were evaporated on the $45^{\circ}$-angled facets through a locally opened thin mask using an electron beam evaporator. We measured propagation loss, bending loss, mirror loss and bending reliability of the fabricated waveguide.
Chlorpyrifos is an organophosphate insecticide and one of the most commonly and widely used insecticide. However, a little known about the dermal risk of chlorpyrifos on human being. Therefore, this study was conducted for the dermal risk assessment after exposure to chlorpyrifos in Korean farmers. First, skin irritation by chlorpyrifos (10 mg/$\textrm{cm}^2$, 50 mg/$\textrm{cm}^2$, 100 mg/$\textrm{cm}^2$, 250 mg/$\textrm{cm}^2$ in acetone) was determined in rabbits for 5 days considering the usage of chlorpyrifos short term highly exposure. The index of skin irritation by chlorpyrifos was increased in each dose and length of exposure dependent manners. Next, using benchmark dose (BMD$_{5}$) approach, the dose-response relationship was assessed to calculate the reference dose (RfD). The value of RfD was 2.84 $\mu\textrm{g}$/kg/day from 142.16 $\mu\textrm{g}$/kg/day BMD5 value divided uncertainty factor 50. Finally, we assessed human dermal risk of chlorpyrifos with exposure level and RfD. Skin absorbed levels were assumed with several exposure scenarios encounting the circumstances of exposure that application method, protection equipment and cloth, exposure time and exposure frequency during chlorpyrifos spraying. By the comparison of skin absorbed dose with the reference dose, it was identified that risk values (risk index) to skin chlorpyrifos exposure were 0.958 from the point of above results and it was recommended that the occurrence of hazard effect (skin irritation toxicity) of chlorpyrifos would not be expected. Risk index was smaller than 1 in the case of spraying vehicle mounted application, 1hour exposure time and wearing protective cloth exposure. Whereas, risk index was above 1 in the case of hand-held application, 2hour exposure time and wearing common cloth. Comparing two kinds of application method, total risk index of the hand held application (1.67) was higher than vehicle mounted (0.27). Therefore, chlorpyrifos skin exposure was mainly affected by application equipment and applied form. The results of risk assessment on the human dermal toxicity of chlorpyrifos should be required to control in keeping safety rules, skin surface area available for contact, spraying time ,and spraying frequency.y.
Kim, Sung-Joon;Lee, Hyeong-Won;Hwang, Jeong-Seok;Won, Chan-Hee
Journal of Korean Society on Water Environment
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v.26
no.3
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pp.460-467
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2010
For D-WTP's sedimentation basin and distribution reservoir, and water tap the predictive models proposed tentatively herein included the models for estimating TTHM concentration in precipitated water, for treated water and for tap water, and the estimated correlation formula between treated water's TTHM concentration and tap water. As for TTHM-concentration predictive model in sedimentation water, the coefficient of determination is 0.866 for best-fitted short-term $DOC{\times}UV_{254}$ based Model (TTHM). As for $HAA_5$-concentration predictive model in sedimentation water, the coefficient of determination is 0.947 for the suitable $UV_{254}$-based model ($HAA_5$). In case of the predictive model in treated water, the coefficient of determination is 0.980 for best-fitted $DOC{\times}UV_{254}$ based model (TTHM) using coagulated waters, while the coefficient of determination is 0.983 for best-fitted $DOC{\times}UV_{254}$ based model ($HAA_5$) using coagulated waters, which described the $HAA_5$ concentration well. However, the predictive model for tap water could not be compatible with the one for treated water, only except for possibility inducing correlation formula for prediction, [i.e., the correlation formula between TTHM concentration and tap water was verified as TTHM (tap water) = $1.162{\times}TTHM$ (treated water), while $HAA_5$ (tap water) = $0.965{\times}HAA_5$ (treated water).] The correlation analysis between DOC and $KMnO_4$ consumption by process resulted in higher relationship with filtrated water, showing that its regression is $DOC=0.669{\times}KMnO_4$ consumption - 0.166 with 0.689 of determination coefficient. By substituting it to the existing DOC-based model ($HAA_5$) for treated water, the consequential model formula was made as follows; $HAA_5=8.35(KMnO_4\;consumption{\times}0.669-0.166)^{0.701}(Cl_2)^{0.577}t^{0.150}0.9216^{(pH-7.5)}1.022^{(Temp-20^{\circ}C)}$
Shin, So Yeon;Seo, Dong Kyun;Kim, Shin Young;Seo, Jong Cheol;Seo, Yeon Ju;Lee, Yoon Joo;Bin, Chang Hyun;Jung, Taek Gun;Song, Chun Ho;Yoon, Hyun Min;Kim, Cheol Hong;Jang, Kyung Jeon
Journal of Acupuncture Research
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v.32
no.3
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pp.163-173
/
2015
Objectives : The aim of this study is to determine whether Chinemys reevesii Gray pharmacopuncture is a clinically effective treatment for women with knee osteoarthritis. Methods : Female patients with knee osteoarthritis were recruited from May $1^{st}$, 2014 to April $15^{th}$, 2015 at the Department of Acupuncture & Moxibustion Medicine of Dong-Eui University Korean Medical Hospital. Patients were randomly assigned to two groups. 4.0 ml of Chinemys reevesii Gray pharmacopuncture was injected at acupuncture points of the experimental group(n = 24) twice a week for three weeks. The control group(n = 24) received 5 % dextrose injections in order to identically stimulate the same acupuncture points of $ST_{35}$, $ST_{34}$, $SP_9$, $SP_{10}$, $GB_{34}$, $LR_8$, $EX-LE_4$, and $EX-LE_2$. The Short-Form McGill Pain Questionnaire(SF-MPQ), the Korean Western Ontario and McMaster Universities Osteoarthritis Index(KWOMAC), and the European Quality of Life-5 Dimensions(EQ-5D) were recorded to evaluate treatment efficacy at first visit, after two weeks and four weeks from the initial visit. Results : 40 patients completed the trial. The experimental group showed more significant improvement than the control group in the scores of SF-MPQ, KWOMAC, and EQ-5D. However, there was no significant difference between groups in a few of the assessment scales. Conclusions : Chinemys reevesii Gray pharmacopuncture can be an effective treatment in control of pain, improvement in function and health-related quality of life for women with knee osteoarthritis.
Since the year 2000, the production and consumption of broccoli have rapidly increased in Korea. And, the average production area and amount were about 1,700 ha and 29,000 ton for the past 5 years. Even with the increase of these cultivation and consumption, more than 95% of the broccoli seeds are currently imported from foreign countries such as Japan and Netherlands. Therefore, development of domestic broccoli varieties is needed to relieve Korean farmers' production cost for broccoli. In this situation, National Institute of Horticultural and Herbal Science (NIHHS) of Korea has tried to develop F1 hybrid varieties from elite lines that were obtained by microspore cultivation method from 2008. As the results, about 850 lines of broccoli were obtained and self-pollinated. Then their ploidy levels of the genome were confirmed to select double haploid (D.H.) lines. And the D.H. lines' horticultural traits were evaluated in open field. After the selection of 17 elite D.H. lines, they were cross-pollinated with a male sterile (MS) line to produce F1 hybrid seeds. After 2 to 3 years field trials of these F1 hybrid varieties at the area of Suwon, Gangneung, and Jeju respectively, two hybrid varieties such as 'Wongyo8011' and 'Wongyo8012' are selected for the application of variety protection. With these 4 years of research, we found that the microspore cultivation method is a powerful tool for the conventional breeding program, especially for the development of various inbred lines and even F1 hybrid varieties in short time.
This paper presents two new techniques for solving the two problems of the water curtain: 'shape distortion' caused by gravity and 'resolution degradation' caused by fine satellite droplets around the shape. In the first method, when the user converts a three-dimensional model to a vertical sequence of slices, the slices are evenly spaced. The method is to adjust the time points at which the equi-distance slices are created by the nozzle array. In this method, even if the velocity of a water drop increases with time by gravity, the water drop slices maintain the equal interval at the moment of forming the whole shape, thereby preventing distortion. The second method is called the minimum time interval technique. The minimum time interval is the time between the open command of a nozzle and the next open command of the nozzle, so that consecutive water drops are clearly created without satellite drops. When the user converts a three-dimensional model to a sequence of slices, the slices are defined as close as possible, not evenly spaced, considering the minimum time interval of consecutive drops. The slices are arranged in short intervals in the top area of the shape, and the slices are arranged in long intervals in the bottom area of the shape. The minimum time interval is pre-determined by an experiment, and consists of the time from the open command of the nozzle to the time at which the nozzle is fully open, and the time in which the fully open state is maintained, and the time from the close command to the time at which the nozzle is fully closed. The second method produces water drop sculptures with higher resolution than does the first method.
Resistivity logging instruments are designed to measure the electrical resistivity of a formation, and this can be directly interpreted to provide a water-saturation profile. However, resistivity logs are sensitive to borehole and shoulder-bed effects, which often result in misinterpretation of the results. These effects are emphasised more in the presence of tool eccentricity. For precise interpretation of short- and long-normal logging measurements in the presence of tool eccentricity, we simulate and analyse eccentricity effects by combining the use of a Fourier series expansion in a new system of coordinates with a 2D goal-oriented high-order self-adaptive hp finite-element refinement strategy, where h denotes the element size and p the polynomial order of approximation within each element. The algorithm automatically performs local mesh refinement to construct an optimal grid for the problem under consideration. In addition, the proper combination of h and p refinements produces highly accurate simulations even in the presence of high electrical resistivity contrasts. Numerical results demonstrate that our algorithm provides highly accurate and reliable simulation results. Eccentricity effects are more noticeable when the borehole is large or resistive, or when the formation is highly conductive.
Based on the reproductive cycle of Rhodeus uyekii, the reproductive control mechanism was examined under the several combinations of photoperiod and temperature regimes at different phases of their reproductive cycle. In early spring, the gonads developed rapidly under the warm temperature condition(above $8^{\circ}C$), regardless of the photoperiod. In late spring or early summer, gonads intensely regressed under the high temperature condition(above $24^{\circ}C$), regardless of the photoperiod. Thus, it is concluded that the spawning period of R. uyekii is initiated by the rising of water temperature in spring and is terminated by the high temperature in early summer. In autumn, the gonadal recrudescence occurs under the conditions of artificial long daylength with warm temperature(15L/9D, $12^{\circ}C{\sim}20^{\circ}C$), whereas the gonads remain in the existing condition under the short daylength. Therefore, in autumn the gonadal recrudescence is prevented by the short daylength although the temperature is still in favorable condition. In bitterling, the responsiveness of the gonads to photoperiod varies clearly with seasons, which was declined during the winter but increased during the autumn. The critical photoperiod for maturation ranges 12~13 hours of light per day. The results indicate that the proper ranges of temperature and photoperiod for gonadal maturation of this species are from $8^{\circ}C$ to $8^{\circ}C$ and from 13L to 15L, respectively.
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