• Title/Summary/Keyword: Dominant delay

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Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment

  • Jae Hun Yun;Yong Hee Hong;Go Hun Seo;Young-Lim Shin
    • Journal of Genetic Medicine
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    • v.19 no.2
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    • pp.94-99
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    • 2022
  • Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

Chloride Diffusion Coefficient Evaluation in 1 Year-Cured OPC Concrete under Loading Conditions and Cold Joint (하중조건과 콜드조인트를 고려한 1년 양생된 OPC 콘크리트의 염화물 확산계수 평가)

  • Oh, Kyeong-Seok;Kwon, Seung-Jun
    • Journal of the Korea institute for structural maintenance and inspection
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    • v.21 no.5
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    • pp.21-29
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    • 2017
  • Cold joint caused by construction delay is vulnerable to shear stress and it allows more rapid chloride penetration and diffusion. In the paper, investigation of chloride diffusion coefficient is performed for 1-year cured concrete considering compressive and tensile loading level and cold joint. The results are compared with the previous results in 91-day cured concrete. In the 1-year cured concrete without loading, 10.7% and 10.5% of diffusion reduction are evaluated for those in 91-day cured concrete, respectively. The reduction ratios are almost similar however the result in cold joint concrete shows much higher values. The results in 1-year cured concrete under 30% and 60% of compressive loading show reduction of chloride diffusion by 10.9% and 5.8% compared with 91-day cured results, which is caused by steady hydration of cement particles, so called, time effect. In the case of tensile loading, the differences in results are not significant regardless of time effect and cold joint since micro cracks which is weak point of concrete is much dominant despite of long term curing.

Pattern of the Occurrence of Tomato spotted wilt virus in Jeonnam Province (전남 지역의 토마토반점위조바이러스병 발생 양상)

  • Ko, Sug-Ju;Kang, Beom-Ryong;Choi, Duck-Soo;Kim, Do-Ik;Lee, Gwan-Seok;Kim, Chang-Seok;Choi, Hong-Soo
    • Research in Plant Disease
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    • v.19 no.4
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    • pp.273-280
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    • 2013
  • Tomato spotted wilt virus (TSWV) was occurred at 8 areas including Naju, Suncheon, Younggwang, Youngam, and Shinan in Jeonnam province and the crops of Younggwang were severely damaged by TSWV. The hot pepper (Capsicum annuum), bell pepper (Capsicum annuum v ar. angulosum) and tomato (Solanum lycopersicon) in greenhouse and hot pepper in open field were infected by TSWV. Especially, hot pepper was severely damaged by TSWV infection. The survey data indicated that 1.1-30% in the nursery field at Naju, Suncheon, and Jangheung were infected by TSWV. Plants were infected by TSWV from early June to August. However, TSWV-infected seedlings from nursery fields showed the disease symptoms from May after transplanting. In pepper greenhouses, Frankliniella occidentalis was more dominant insect vector than Frankliniella intonsa. But in open field, the population of insect vector was opposed to greenhouse. In addition, the removal of weeds was able to delay the incidence of TSWV via side-window of greenhouse in Winter. Taken together, the control of weed and insect vector nearby side-window of greenhouse is important to prevent TSWV infection of plants.

The Role of Heat Shock Protein 25 in Radiation Resistance

  • Lee Yoon-Jin;Lee Su-Jae;Bae Sangwoo;Lee Yun-Sil
    • Environmental Mutagens and Carcinogens
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    • v.25 no.2
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    • pp.51-59
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    • 2005
  • Overexpression of HSP25 delayed cell growth, increased the level of $p21^{waf}$, reduced the levels of cyclin D1, cylcin A and cdc2, and induced radioresistance in L929 cells. We demonstrated that extracellular regulated kinase (ERK) and MAP kinase/ERK kinase (MEK) expressions as well as their activation (phospho-forms) were inhibited by hsp25 overexpression. To confirm the relationship between ERK1/2 and hsp25-mediated radioresistance, ERK1 or ERK2 cDNA was transiently transfected into the hsp25 overexpressed cells and their radioresistance was examined. HSP25-mediated radioresistance was abolished by overexpression of ERK2, but not by overexpression of ERK1. Alteration of cell cycle distribution and cell cycle related protein expressions (cyclin D, cyclin A and cdc2) by hsp25 overexpression were also recovered by ERK2 cDNA transfection. Increase in Bc1-2 protein by hsp25 gene transfection was also reduced by subsequent ERK2 cDNA-transfection. In addition, HSP25 overexpression reduced reactive oxygen species (ROS) and increased expression of manganese superoxide dismutase (MnSOD) gene. Increased activation of NF-kB (IkB degradation) was also found in hsp25-overexpressed cells. Moreover, transfection of hsp25 antisense gene abrogated all the HSP25-mediated phenomena. To further elucidate the exact relationship between MnSOD induction and NF-kB activation, dominant negative $I-kB\alpha(I-kB\alpha-DN)$ construction was transfected to HSP25 overexpressed cells. $I-kB\alpha-DN$ inhibited HSP25 mediated MnSOD gene expression. In addition, HSP25 mediated radioresistance was blocked by $I-kB\alpha-DN$ transfection. Blockage of MnSOD with antisense oligonucleotides in HSP25 overexpressed cells, prevented apoptosis and returned the ERK1/2 activation to the control level. From the above results, we suggest for the first time that reduced oxidative damage by HSP25 was due to MnSOD-mediated down regulation of ERK1/2.

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Musculocutaneus Island Flap Based on the Distal Vascular Pedicle of Gracilis Muscle (박근의 원위혈관경을 이용한 도서형 근피판술)

  • Chung, Duke-Whan;Lee, Yong-Wook;Cho, Chang-Hyun
    • Archives of Reconstructive Microsurgery
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    • v.6 no.1
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    • pp.96-102
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    • 1997
  • The gracilis that is frequently used as a donor of free muscle trasfer is appropriate in the muscular shape and vascular position. This muscle is belonged to the second type of muscle group by the classification of the pattern of muscular nutrient vessel. The adductor branch or first perforating branch of deep femoral artery which supplies the proximal 1/3 of this muscle is a dominant one and this is used for the microscopic anastomosis of muscle or musculocutaneous flap. The minor vascular pedicles which enter the distal 1/3 of this of this muscle are branches of the superficial femoral artery and it is 0.5mm in diameter, 2cm in length with two venae comitantes. These minor pedicles supplies distal half of the gracilis muscle. This island musculocutaneous flap using distal vascular pedicle can be used to cover the defect of soft tissue around the distal femoral supra-condylar area, knee joint and proximal tibial condyle area which cause limitation of motion of knee joint, or in the cases that usual skin graft is impossible. The important operative procedure is as follows; The dissection is carried proximally and distally and the entire gracilis muscle including proximal and distal pedicle is completely dissected. After temporary blocking of the proximal vascular pedicle, the adequate muscle perfusion by the distal pedicle is identified and it is rotated to the recipient site around knee joint. The advantages of this procedure are simple, no need of microscopic vascular anastomoses and no significant functional loss of donor site. Especially in the cases of poor condition of the recipient vessel, this procedure can be used effectively. From 1991 to 1996, we performed 4 cases; complete survival of flap in 3 cases and partial survival of flap with partial necrosis in 1 case. This procedure is though to be useful in the small sized soft tissue defect of distal femoral supra-condylar area, knee joint and proximal tibial condylar area, especially in the defect of anterior aspect which expected to cause limitation of motion of knee joint due to scar contracture. But the problems of this procedure are the diameter of distal vascular pedicle is small and the location of distal vascular pedicle is not constant. To reduce the failure rate, identify the muscular perfusion of distal vascular pedicle after blocking the proximal pedicle, or strategic delay will be helpful.

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A Comparative Study on Outbreak and Non-outbreak of Cochlodinium Polykrikoides Margalef in South Sea of Korea in 2007-2009 (2007-2009년 남해안 적조발생 및 적조 미발생에 관한 비교 연구)

  • Cho, Eun-Seob
    • Journal of the Korean Society of Marine Environment & Safety
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    • v.16 no.1
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    • pp.31-41
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    • 2010
  • Harmful dinoflagellate, Cochlodinium polykrikoides, has always occurred in southern coastal waters every year during summer, but it did not occur in 2009. A comparative study on outbreak in 2007/2008 and non-outbreak of C. polykrikoides in 2009 was performed based on environmental parameters and phytoplankton appearances. Samples were obtained at 13 stations from Yeosu to Wando waters in 2007-2009. The heavy rainfall was associated with the decrease of surface water temperature below $20^{\circ}C$ in July, the decrease of salinity below 31psu in August and increase of pH to 8.4 in Augus, 2009. concentration of DIN in 2009 was approximately too times as high as those of 2007 and 2008, and the ratioes of N:P and Si:N in 2009 showed Redfield ratio to be above the value of 16. This indicates that Redfield ratioes were significantly different between 2007/2008 and 2009. Dominant species during the field survey were shown to be Chaetoceros spp., Skeletonema costatum and Thalassiosir spp. in diatoms and to be Ceratium spp. in dinoflagellate. In partiuclar, Gonyaulax polygramma occurred in August, 2009 instead of C. polykrikoides. Consequently, the massive rainfall and shortage of sunshine contributed to considerable variation in environmental parameters which were associated with delay in the timing of rapid growth phase of C. polykrikoides.

Effect of Yijin-tang on Gastric Motility between Normal Intact and Partial Pyloric Obstructed Rats (이진탕(二陳湯)이 정상 및 위 유문부가 부분폐색된 흰 쥐의 위 운동성에 미치는 효과)

  • Han, Soak-Young;Yoon, Sang-Hyub
    • The Journal of Internal Korean Medicine
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    • v.30 no.1
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    • pp.107-118
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    • 2009
  • Objectives : This study was aimed to investigated the effect of Yijin-tang on gastric motility and its mechanism of action in normal intact and partial pyloric obstructed rats. Methods : Gastric emptying was measured by the number of glass beads expelled from the stomach (containing one hundred of glass beads. ${\phi}1mm$) in 1 hour or 2 hours after glass beads and test drugs (normal saline. Yijin-tang 90mg/kg. Yijin-tang 270mg/kg) administration in normal intact and partial pyloric obstructed rats. In another series of experiments to evaluate the mechanism of Yijin-tang 270mg/kg under delayed conditions, normal intact rats were treated with atropine sulfate (1mg/kg,s.c.), cisplatin (10mg/kg,i.p.), quinpirole HCI (0.3mg/kg,i.p.) and NAME (NG-nitro-L-arginine methyl ester. 75mg/ kg,s.c.), respectively. Partial pyloric obstructed rats were modified by wrapping the nonabsorbable rubber ring (D :6mm, W:4mm, T: 1mm) around the 1st portion of the duodenum for 8 weeks. The myoelectrical activity of the gastric smooth muscle was recorded by a bipolar electrode placed at the abdominal surface in normal intact and partial pyloric obstructed rats. The gastric myoelectrical activity was measured for 30 minutes before and after orogastric administration of each solution (normal saline, Yijin-tang 270mg/kg) and expressed as dominant frequency, percent of normogastria and power ratio. Results : Yijin-tang improved gastric emptying more than normal saline in normal intact(p<0.001) and partial pyloric obstructed rats(p=0.002). Under the delayed gastric emptying induced by atropine sulfate, cisplatin, quinpirole HCI and NAME. Yijin-tang enhanced gastric emptying significantly in the cisplatin treated group(p<0.001). but didn't in other treated groups. Administration of Yijin-tang 270mg/kg has no significant effect on the myoelectrical activity of the gastric smooth muscle in both normal intact rats and partial pyloric obstructed rats. Conclusions : Yijin-tang seems to stimulate the gastric motility through suppressing the 5HT3 receptor and promoting the antroduodenal flow. We expect that Yijin-tang would be effective especially in dysmotility-like functional dyspepsia with partial pyloric obstruction or the side effects of cisplatin such as nausea, vomiting, abdominal discomfort, and delay of gastric emptying.

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Comparative Analysis of Verbal Interaction between Teachers and Students for the Gifted and the General Science Class in Middle School (중학교 일반학급과 영재학급의 과학수업에서 교사와 학생사이의 언어적 상호작용 비교 분석)

  • Lee, Ji-Hyang;Kim, Dong-Jin;Hwang, Hyun-Sook;Park, Se-Yeol;Baek, In-Hwan;Park, Kuk-Tae
    • Journal of Gifted/Talented Education
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    • v.20 no.3
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    • pp.721-741
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    • 2010
  • This study was to analyze verbal interactions between teachers and students after observations on teachers' questioning and feedback, students' response types and frequency analysis at middle-school class of average and gifted students. As for the verbal interaction between teachers and students of science class of general students, it was dominant for teachers to utilize questions for summarizing or guiding for textbook contents as they are. They were focused on immediate feedback in a restatement form. The students used simple responses like yes/no in general. The most high frequency of verbal interaction models expressed were in the order of cognitive-memory thinking question-short answer-immediate feedback. On the other hand, teachers of gifted students' science class threw divergent and evaluative thinking questions of open question, such as 'what's the reason?' or 'why is it?' Immediate feedback in explanatory form was mainly provided as well. The level of feedback delay was higher than general class and that of immediate feedback was lower than general class. The students preferred short words or a not-complicated sentence when they replied and their participation was more attentive and positive. Hence, The high frequency of verbal interaction models expressed were in order of cognitive-memory thinking questions-elaborative short answer-delayed feedback.

Characteristics of OCP of Reinforced Concrete Using Socket-type Electrodes during Periodic Salt Damage Test (주기적 염해 시험에 따른 소켓 타입 전극을 활용한 철근 콘크리트의 OCP 특성)

  • Lee, Sang-Seok;Kwon, Seung-Jun
    • Journal of the Korea institute for structural maintenance and inspection
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    • v.25 no.4
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    • pp.28-36
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    • 2021
  • It is known that buried rebars inside concrete structures are protected from corrosion due to passive layer. It is very important to delay the timing of corrosion or evaluate a detection of corrosion initiation for the purpose of cost-beneficiary service life of a structure. In this study, corrosion monitoring was performed on concrete specimens considering 3 levels of cover depth(60 mm, 45 mm, and 30 mm), W/C(water to cement) ratio(40.0%, 50.0%, and 60.0%) and chloride concentration(0.0%, 3.5%, and 7.0%). OCP(Open Circuit Potential) was measured using agar-based socket type sensors. The OCP measurement showed the consistent behavior where the potential was reduced in wet conditions and it was partially recovered in dry conditions. In the case of 30 mm of cover depth for most W/C ratio cases, the lowest OCP value was measured and rapid OCP recovery was evaluated in increasing cover depth from 30 mm to 45 mm, since cover depth was an effective protection against chloride ion ingress. As the chloride concentration increased, the effect on the cover depth tended to be more dominant than the that of W/C ratio. After additional monitoring and physical evaluation of chloride concentration after specimen dismantling, the proposed system can be improved with increasing reliability of the corrosion monitoring.

Petrological Characteristics and Nondestructive Deterioration Assessments for Foundation Stones of the Sebyeonggwan Hall in Tongyeong, Korea (통영 세병관 초석의 암석학적 특성 및 비파괴 손상평가)

  • Han, Doo Roo;Kim, Sung Han;Park, Seok Tae;Lee, Chan Hee
    • Economic and Environmental Geology
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    • v.54 no.2
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    • pp.199-212
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    • 2021
  • The Sebyeonggwan Hall (National Treasure No. 305) is located on the Naval Headquarter of Three Provinces in Tongyeong, and it has partly undergone with several rebuilding, remodeling, repairing and restorations since it's the first establishment in Joseon Dynasty (AD 1605) of ancient Korea. This study focuses on 50 foundation stones that comprise the Sebyeonggwan. These stones are made of six rock types and currently have various shapes of the surface damages. As the foundation stones, the dominant rock type was dacitic lapilli tuffs, and provenance-based interpretation was performed to supply alternative stones for conservation. Most of the provenance rocks for foundation stones showed highly homogeneity with their corresponding stones of petrography, mineralogy and magnetic susceptibility. According to surface deterioration assessments, the most serious damages of the stones were blistering and scaling. The deterioration mechanism was identified through the analysis of inorganic contaminants, and the primary reason is considered salt weathering caused by sea breeze and other combined circumstances. Based on the mechanical durability of the stones, there was no foundation stone that required the replacement of its members attributed to the degradation of the rock properties, but conservation treatment is considered necessary to delay superficial damage. The foundation stones are characterized by a combined outcome of multiple petrological factors that caused physical damage to surfaces and internal defects. Therefore, it's required to diagnosis and monitoring the Sebyeonggwan regularly for long-term preservation.