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A Case of Carbamoyl Phosphate Synthetase 1 Deficiency with Novel Mutations in CPS1 Treated by Liver Cell Transplantation (신생아기에 새로운 CPS1 유전자 돌연변이가 확인되고, 간세포이식 시행 받은 Carbamoyl phosphatase synthetase 1 deficiency 1례)

  • Lee, Jisun;Yang, Aram;Kim, Jinsup;Park, Hyung-Doo;Lee, Sanghoon;Lee, Suk-Koo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.1
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    • pp.31-37
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    • 2017
  • Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed-onset cases are predominantly adolescents or adults, and infantile delayed-onset cases are rare. Severe hyperammonemia in the neonatal period leads to serious brain damage, coma, and death if not treated promptly. Therefore, early diagnosis and acute treatment are crucial. Despite the improvement of treatments, including continuous hemodialysis, ammonia-lowering agents, and a low-protein diet, the overall outcome of severe forms of hyperammonemia often remains disappointing. As the liver is the only organ in which ammonia is converted into urea, liver transplantation has been considered as an elegant and radical alternative therapy to classical dietary and medical therapies. However, liver transplantation has many disadvantages, such as a considerable risk for technical complications and perioperative metabolic derangement, especially in neonates. Additionally, there is a lack of suitable donor organs in most countries. According to recent studies, liver cell transplantation is a therapeutic option and serves as a bridge to liver transplantation. Here, we report a Korean CPS1D patient with novel mutations in CPS1 who was treated by liver cell transplantation after being diagnosed in the neonatal period and showed a good neurodevelopmental outcome at the last follow-up at six months of age.

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The Correlation between Sensory Process Type and Interpersonal Problems, Adult Attachment on University Students (대학생의 감각처리 유형과 대인관계문제 및 성인애착의 관계)

  • Yoon, Su-Jeong;Lee, Chun-Yeop;Kim, Hee-Jung;Jung, Hye-Rim
    • The Journal of Korean society of community based occupational therapy
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    • v.7 no.2
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    • pp.9-18
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    • 2017
  • Objective : This study was to find out the level of sensory process type, adult attachment and interpersonal problems on university students and then to investigate the correlation. Methods : For this study, 169 students who don't know about the evaluation tool in university students of K area in Korea were participated. To execute evaluation, Adolescents/Adults Sensory Profile (AASP) was used for the sensory process type, Short Form of the Korean Inventory of Interpersonal Problems Circumplex Scale (KIIP-SC) was used for interpersonal problems, and Experiences in Close Relationships Scale-Revised (ECR-R) was used for the adult attachment. The correlation between sensory process type and interpersonal problems, adult attachment was analyzed by using pearson correlation analysis. Results : Sensory process type of university students appeared that sensory seeking was lower than general people, and the rest of items showed similar results with general people. For interpersonal problems, there was a lot of difficulty in self-sacrificing and overly accommodating, whereas there was a little difficulty in vindictive and domineering / controlling. For adult attachment, attachment avoiding was more stable than attachment anxiety. Also, low registration and sensory sensitivity all showed positive correlation with interpersonal problems and adult attachment. Among interpersonal problems, self-sacrificing and intrusive showed positive correlation with sensory seeking whereas cold, socially inhibited, nonassertive, and overly accommodating showed positive correlation with sensory avoiding. Thus, sensory seeking and sensory avoiding showed different results (p<.05). Conclusion : In occupational therapy clinic, not only the disabled but non-disabled people that experience issue of interpersonal problems and attachment could be helped with managing high quality social activity if they execute intervention according to sensory process type.

Biomechanical Comparative Analysis of Two Goal-kick Motion in Soccer (두 가지 축구 골킥 동작의 운동역학적 비교 분석)

  • Jin, Young-Wan;Shin, Je-Min
    • Korean Journal of Applied Biomechanics
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    • v.15 no.1
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    • pp.29-44
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    • 2005
  • The purpose of this study is to reveal the effects of two different kicks, the drop kick and the punt kick, into the kicking motion, through the kinetic comparative analysis of the kicking motion, which is conducted when one kicks a soccer goal. To grasp kinetic changing factors, which is performed by individual's each body segment, I connected kicking motions, which were analyzed by a two dimension co-ordination, into the personal computer to concrete the digits of it and smoothed by 10Hz. Using the smoothed data, I found a needed kinematical data by inputting an analytical program into the computer. The result of comparative analysis of two kicking motions can be summarized as below. 1. There was not a big difference between the time of the loading phase and the time of the swing phase, which can affect the exact impact and the angle of balls aviation direction. 2. The two kicks were not affected the timing and the velocity of the kicking leg's segment. 3. In the goal kick motion, the maximum velocity timing of the kicking leg's lower segment showed the following orders: the thigh(-0.06sec), the lower leg(-0.05sec), the foot(-0.018sec) in the drop kick, and the thigh(-0.06sec), the lower leg(-0.05sec), the foot(-0.015sec) in the punt kick. It showed that whipping motion increases the velocity of the foot at the time of impact. 4. At the time of impact, there was not a significant difference in the supporting leg's knee and ankle. When one does the punt kick, the subject spreads out his hip joint more at the time of impact. 5. When the impact performed, kicking leg's every segment was similar. Because the height of the ball is higher in the punt kick than in the drop kick, the subject has to stretch the knees more when he kicks a ball, so there is a significant affect on the angle and the distance of the ball's flying. 6. When one performs the drop kick, the stride is 0.02m shorter than the punt kick, and the ratio of height of the drop kick is 0.05 smaller than the punt kick. This difference greatly affects the center of the ball, the supporting leg's location, and the location of the center of gravity with the center of the ball at the time of impact. 7. Right before the moment of the impact, the center of gravity was located from the center of the ball, the height of the drop kick was 0.67m ratio of height was 0.37, and the height of the punt kick was 0.65m ratio of height was 0.36. The drop kick was located more to the back 0.21m ratio of height was 0.12, the punt kick was located more to the back 0.28m ratio of height was 0.16. 8. There was not a significant difference in the absolute angle of incidence and the maximum distance, but the absolute velocity of incidence showed a significant difference. This difference is caused from that whether players have the time to perform of not; the drop kick is used when the players have time to perform, and punt kick is used when the players launch a shifting attack. 9. The surface reaction force of the supporting leg had some relation with the approaching angle. Vertical reaction force (Fz) showed some differences in the two movements(p<0.05). The maximum force of the right and left surface reaction force (Fx) didn't have much differences (p<0.05), but it showed the tendency that the maximum force occurs before the peak force of the front and back surface (Fy) occurs.

The Relationship between Human Neutrophil Elastase and Coronary Arterial Dilatation in Kawasaki Disease (가와사끼병 환아에서의 혈장 및 호중구의 Elastase 활성도와 관상동맥 증대와의 관계)

  • Shim, Jun Yong;Choi, Hee Won;Hong, Ja Hyun;Lee, Jong Kyun;Lee, Hae Yong
    • Clinical and Experimental Pediatrics
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    • v.46 no.9
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    • pp.903-908
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    • 2003
  • Purpose : Kawasaki disease is notorious for coronary arterial complication which is usually developed as a febrile disease in early childhood. Increased polymorphonucleus(PMN) cell levels in acute phases may be associated with the pathophysiology of Kawasaki disease. We studied the relationship between coronary arterial dilatation and elastase activity which was excreted from PMN cell and roles as an important factor for vasculitis. Methods : Ten patients diagnosed with Kawasaki disease in Yonsei University Medical Center were examined between November, 2001 and January, 2002. In addition, 15 patients with other febrile diseases were also examined. Echocardiography was done in patients with Kawasaki disease on the first day of admission and four weeks after the onset of the disease. At each time, venous samples were drawn and separated into plasma and leukocytes. In patients with other febrile disease, samples were drawn on admission. Elastase activities in plasma and neutrophil extracts were measured. Results : The significant increased plasma elastase activity, $6.19{\pm}0.74U/mL$, found in Kawasaki disease patients compared with the other febrile disease patients, $4.86{\pm}1.17U/mL$(P<0.05). And there was no significance between the above two diseases in terms of the elastase activity in neutrophil extracts. The relationship between initial elastase activity and the coronary arterial complication which was shown in subacute phase wasn't significant. Conclusion : Plasma elastase activity was increased in Kawasaki disease significantly, but the initial plasma elastase activity in the acute phase could not reflect the range of coronary arterial complication.

A study on the smile of Korean Youth compared with twenty years ago (20년전과 비교한 한국청년의 미소 변화에 관한 연구)

  • Beom, Seung-Gyun;Jung, Ji-Hye;Kim, Tae-Young;Lee, Kyung-Eun;Dong, Jin-Keun
    • The Journal of Korean Academy of Prosthodontics
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    • v.50 no.3
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    • pp.162-168
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    • 2012
  • Purpose: Teeth are generally exposed when people smiling. Moreover, the exposed teeth and soft tissue when smiling becomes an important guideline for esthetically prosthetic restoration. This research is to compare and find out differences of Korean young men's smile living in presence and twenty years ago. Materials and methods: Subjects, 100 young men (50 male and 50 female), were required about several aspects; normally developed physical condition, no psychological or genetic disorders, a fine face with no loss of teeth, no experience in orthodontic or prosthetic treatment, relatively normal occlusion, aged between 20-29. The photos of the subject at rest position and front face when fully smiled were taken three times. 100 photos (50 male and 50 female) were chosen at random from the 240 university students' smile photos taken by Yoon and his colleagues in 1991. By Hulsey's method of measuring smile, several factors; the change of upper lip curvature, the change of the relation between the upper lip and teeth, parallelism between Mx. incisor and lower lip, contact relation between Mx. incisor and lower lip and teeth displayed in a smile, were measured and analyzed. Meanwhile, ten dentists assessed aesthetic evaluation about men and women's smile for twice and recorded and compared smile score. The -test (P<.05) was used to compare the measured value. The difference of smile score was analyzed by t-test (P<.05). Results: The smile score calculated in 2011 (60.22) was higher than that of 1991 (52.80). Among five measurement categories, the noticeable difference was distinguished from two factors; the change of upper lip curvature and contact relation between Mx. incisor and lower lip. Conclusion: The Korean young men's smile has been considerably improved for twenty years. And it is found that the change of upper lip curvature plays an important role, that is, the smile formed with an ascended labial commissure has been increased significantly.

Polymorphisms in Epigenetic and Meat Quality Related Genes in Fourteen Cattle Breeds and Association with Beef Quality and Carcass Traits

  • Liu, Xuan;Usman, Tahir;Wang, Yachun;Wang, Zezhao;Xu, Xianzhou;Wu, Meng;Zhang, Yi;Zhang, Xu;Li, Qiang;Liu, Lin;Shi, Wanhai;Qin, Chunhua;Geng, Fanjun;Wang, Congyong;Tan, Rui;Huang, Xixia;Liu, Airong;Wu, Hongjun;Tan, Shixin;Yu, Ying
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.4
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    • pp.467-475
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    • 2015
  • Improvement for carcass traits related to beef quality is the key concern in beef production. Recent reports found that epigenetics mediates the interaction of individuals with environment and nutrition. The present study was designed to analyze the genetic effect of single nucleotide polymorphisms (SNPs) in seven epigenetic-related genes (DNMT1, DNMT3a, DNMT3b, DNMT3L, Ago1, Ago2, and HDAC5) and two meat quality candidate genes (CAPN1 and PRKAG3) on fourteen carcass traits related to beef quality in a Snow Dragon beef population, and also to identify SNPs in a total of fourteen cattle populations. Sixteen SNPs were identified and genotyped in 383 individuals sampled from the 14 cattle breeds, which included 147 samples from the Snow Dragon beef population. Data analysis showed significant association of 8 SNPs within 4 genes related to carcass and/or meat quality traits in the beef populations. SNP1 (13154420A>G) in exon 17 of DNMT1 was significantly associated with rib-eye width and lean meat color score (p<0.05). A novel SNP (SNP4, 76198537A>G) of DNMT3a was significantly associated with six beef quality traits. Those individuals with the wild-type genotype AA of DNMT3a showed an increase in carcass weight, chilled carcass weight, flank thicknesses, chuck short rib thickness, chuck short rib score and in chuck flap weight in contrast to the GG genotype. Five out of six SNPs in DNMT3b gene were significantly associated with three beef quality traits. SNP15 (45219258C>T) in CAPN1 was significantly associated with chuck short rib thickness and lean meat color score (p<0.05). The significant effect of SNP15 on lean meat color score individually and in combination with each of other 14 SNPs qualify this SNP to be used as potential marker for improving the trait. In addition, the frequencies of most wild-type alleles were higher than those of the mutant alleles in the native and foreign cattle breeds. Seven SNPs were identified in the epigenetic-related genes. The SNP15 in CAPN1 could be used as a powerful genetic marker in selection programs for beef quality improvement in the Snow Dragon Beef population.

Effects of Green Manure on Soil Properties and Grain Yield of Sorghum (Sorghum bicolor Moench) (수수 재배 시 풋거름작물 이용이 토양특성 변화와 수수의 수량에 미치는 영향)

  • Kim, Sung-Kook;Jung, Gun-Ho;Shin, Sung-Hyu;Kim, Min-Tae;Kim, Chung-Guk;Shim, Kang-Bo
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.61 no.4
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    • pp.290-296
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    • 2016
  • Green manure has been used as alternative to chemical fertilizer. To evaluate the effect of green manure on the chemical properties of top-soil and sorghum yield, hairy vetch (Vicia villosa Roth, HV), manure barley (MB), and a mixture of hairy vetch and manure barley (HV+MB) were incorporated into the soil at a rate of $100kg-N\;N\;ha-1$ before the sorghum was transplanted. Total biomass of sorghum grown in the HV, MB, and HV+MB treatments was 13.1, 31.6, and $25.2t\;ha^{-1}$, respectively, and the nitrogen production of the treatments was 81, 74, and $145kg\;ha^{-1}$, respectively. The SPAD value of the uppermost leaf of sorghum plants grown in the soils with HV, MB, or HV+MB were very similar until heading stage; however, at maturity, the SPAD value of sorghum cultivated in the soils with HV was lower than that of sorghum in the soils with MB or HV+MB. This could be because the nitrogen release from HV was too rapid to supply nitrogen to sorghum during the later stage of grain filling. Compared with chemical fertilizers, the incorporation of green manure increased the pH, exchangeable cations ($K^+$, $Mg{^{+}^{+}}$, and $Ca{^{+}^{+}}$), and total nitrogen in soil postharvest, indicating an improvement in soil chemical properties. Total carbon content increased in soil with green manure incorporated, but decreased in the chemical fertilized soil, suggesting that sorghum cultivation using green manure may sequester carbon in soils. The yield of sorghum cultivated with green manure was not different from the yield of sorghum cultivated with chemical fertilizers. These results suggest that the mixture of hairy vetch and manure barley can be a useful chemical fertilizer alternative in sorghum cultivation.

Effect of Livestock Manure Application on the Productivity of Whole Crop Rice, Feed Value and Soil Fertility (가축분뇨 시용이 총체 벼의 생산성, 사료가치 및 토양의 화학성에 미치는 영향)

  • Lim, Young-Chul;Yoon, Sei-Hyung;Jung, Min-Woong;Kim, Won-Ho;Kim, Jong-Geun;Lee, Joung-Kyong;Seo, Sung;Park, Nam-Gun;Yook, Wan-Bang
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.27 no.4
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    • pp.287-296
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    • 2007
  • The experimental work was conducted to determine the growth characteristics and yield of whole crop rice (cv. Suwon 468 and cv. Chuchungbeo) and soil properties using various type of livestock manure application on rice paddy land for 3 years ($2003{\sim}3005$). Compared Suwon 468 and Chuchungbeo, Suwon 468 has longer plant height and more DM yield than that of Chuchungbeo. Among livestock manure type, plant height was longer in order of liquid swine manure (LSM) > composted swine manure (CSM) > chemical fertilizer (CF) > composted cattle manure (CCM). Number of branch on Chuchungbeo had more than that of Suwon 468. Among livestock manure type, number of branch had more in order of LSM > CSM > CF > CCM. DM yield of whole crop rice (WCR) was affected by various types of livestock manure application and increased in order CSM > CCM = LSM. DM yield on the effects of application level of LSM was highest in LSM 75% + CF 25%. Plant diseases such as rice blast, damage by insect, smut, sheath blight occurred in LSM and CSM and there was not significantly different among application level of LSM. The nitrogen content of WCR by CSM was the highest of all treatments and the ripened ratio by CSM was in contrary order. Moreover the feed value of WCR was not significantly different among treatments. Soil pH, organic matter and total nitrogen was not different by LSM application whereas phosphorus content increased by LSM application. Cu and Zn content increased by LSM and CSM application and were not different by CCM as compared to control plots.

Establishment of Herbicide Screening Methods for Reed (Phragmites communis Trin.) Control - I. Propagation of Reed (갈대(Reed, Phragmites communis Trin.)의 방제를 위한 제초제 스크리닝방법의 확립 - I. 갈대의 육묘)

  • Hwang, I.T.;Choi, J.S.;Lee, H.J.;Hong, K.S.;Cho, K.Y.
    • Korean Journal of Weed Science
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    • v.16 no.1
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    • pp.21-27
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    • 1996
  • This experiment was conducted to find out an effective propagation method for reed(Phragmites communis Trin.), ensuring a continuous herbicide screening for reed control. Reed propagation methods were compared under a greenhouse condition using tour different materials; seeds, rhizomes, depressed stolons of P. japonica Steud., and stem cuttings. Although reed seeds were easy to harvest and store, their germination rate(${\leq}$5%) was very low and seedling growth from the seeds was slow. Rhizomes were difficult to harvest and their harvest time was limited from November to March. Furthermore, reed propagation using rhizomes had problems of a relatively low germination rate(46%), no uniformity in size and shape, individual differences at the early stage of growth, and difficulties in material storage. Rate of reed growth from rhizomes was higher in commercial soil mix(Boo Nong soil) than in sand or in sand+upland soil(1:1). Depressed stolons of P. japonica had a moderate germination rate(65%) and were relatively easy to harvest. However, their harvest time was limited only from August to September. Propagation method using stem cuttings had several advantages over the above methods using other materials. Reed plants could uniformly be propagated from the stem cuttings with a relatively high germination rate(75%). Stem cuttings of central nodes showed a higher germination rate compared to those of upper or lower nodes. Stem cuttings from the field should be used immediately after harvest, since their germination rate decreased rapidly when they were stored under a wet- or a dry-refrigerated condition. Furthermore, the germination of stem cuttings tended to decrease when they were collected from the field after August. This indicates that there is a limitation of harvest time for stem cuttings. However, a year-round propagation of reed using stem cuttings is possible if parent plants are grown in a greenhouse, and thus herbicide screening for reed control could continuously be performed.

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A Study on the Urinary Incontinence and Overactive Bladder Syndrome of Women in a Rural Region (일부 농촌여성에서 요실금 및 과민성방광증후군의 실태에 관한 조사)

  • Lee, Kwan;Park, Byeong-Chan;Lim, Hyun-Sul
    • Journal of agricultural medicine and community health
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    • v.31 no.3
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    • pp.275-284
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    • 2006
  • Objectives: This investigation was carried out to understand the status of the urinary incontinence (UI) and overactive bladder (OABs) syndrome of women in a rural region. Methods: The authors conducted a questionnaire survey among the 322 females who voluntarily participated in a health examination, from 16 to 18 August 2001. Using by definition of UI and OABs, we calculated the proportion of UI, OABs I, and OABs II. The data collected was evaluated using the SPSS 12.0 statistical package, and the differences of symptoms and problems related to daily life between UI, OABs patients and the others were analyzed using a Chi-square test or Fisher's exact test. Results: The overall proportion of UI was 35.4%, and stress UI (32.9%) is more common than urgency UI (17.4%) and mixed UI (14.9%). The proportion of OABs I and OABs II were respectively 36.0%, 14.0%. Symptoms related to UI or OABs were nocturia (35.1%), frequency (23.9%), urgency (21.4%) etc. Of the incontinence cases, 27.2% had experienced UI for a period of one to three years. The proportion of OABs increased significantly by age (p<0.05), UI didn't. The most frequent symptoms in UI and OABs were respectively 'slow stream', 'urgency'. The most frequent problem of daily life in UI and OABs was 'seeking toilet firstly at stranger place'. Conclusions: The proportion of UI and OABs in our study were respectively 35.4%, 14.0%. UI and OABs must be very significant health problems in women, especially rural region. Systemic and profound interventions for UI and OABs need to administer to women in Korea.

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