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First Korean Case of 16p11.2 Duplication Syndrome Diagnosed by Chromosomal Microarray Analysis

  • Shim, Ye Jee;Park, So Yun;Jung, Nani;Kang, Seok Jin;Kim, Heung Sik;Ha, Jung-Sook
    • Journal of Interdisciplinary Genomics
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    • v.1 no.1
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    • pp.10-13
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    • 2019
  • A 10-year and 5 month-old girl with developmental delay, intellectual disability, attention deficit hyperactivity disorder, poor weight gain, and microcephaly was transferred to our pediatric clinic for genetic evaluation. Her height was within the 5-10th percentile, and her weight was under the 3rd percentile. On the social maturity scale, her developmental status was scored as 3 years 9 months for social age, and the social quotient was 35.98. A chromosomal microarray analysis was performed and the microduplication at chromosome 16p was observed: arr[GRCh37] 16p11.2 (29580020_30190029)${\times}3$. Currently, the patient is diagnosed with Grade 2 intellectual disability and is attending a computerized cognitive rehabilitation class twice weekly. In addition, nutritional support and growth follow up are also ensured in the Pediatric Gastrointestinal and Endocrinology clinic.

The Study on Dietary Habits and Nutrient Intakes of School-Aged Children Based on Their Hours in Extracurricular Studies (과외 학습을 받는 학령기 아동의 수강 시간에 따른 식습관 및 영양 섭취 상태에 관한 연구)

  • Kim, Min-Jung;Bae, Yun-Jung;Choi, Mi-Kyeong;Sung, Chung-Ja
    • Journal of the East Asian Society of Dietary Life
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    • v.18 no.1
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    • pp.111-126
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    • 2008
  • The purpose of this study was to examine the dietary habits and nutrient intakes of school-aged children participating in extracurricular classes, to with regards to class schedule. Three-hundred and two students from Seoul were selected and classified into two groups. One group attended extracurricular classes less than 12.43 hours per week, which was determined as the average number of hours per week(AELT, n=147). The other group attended extracurricular classes more than 12.43 hours per week(AEMT, n=155). The average student age in both the AELT and AEMT groups was 11.9 years, respectively. In terms of height and weight, there were no significant differences between the two groups. AELT received significantly more hours of sleep than AEMT(p<0.01), and there were significantly more responses with regard to lack of sleep in the AEMT group than in the AELT group(p<0.05). In a survey on 17 clinical symptoms regarding health, the AEMT group had significantly higher response rates than the AELT group in the following sections: no appetite (p<0.001), dizziness(p<0.001), headache(p<0.01), tiredness(p<0.01), cold symptoms(p<0.05), and sore eyes(p<0.05). Meal time irregularity was significantly higher than AEMT than in AELT(p<0.05). Approximately 50% of the subjects were picky eaters, and 40% and 20% skipped breakfast or dinner, respectively. The average energy intakes for AELT and AEMT were 2122.2 kcal and 2061.5 kcal, respectively, and there was no significant difference between the two groups. AEMT consumed significantly lower quantities of protein, animal fat, vitamin $B_6$, calcium, and phosphorus(each p<0.05) as compared to the AELT group. Beverage intake was significantly higher in AEMT than AELT(p<0.05). The number of hours in extracurricular classes showed a significant negative correlation with the intakes of protein, animal protein, animal fat, vitamin $B_6$, folate, calcium, plant calcium and phosphorus(each p<0.05). The number of hours in extracurricular classes also showed a significant negative correlation with soy foods intake(p<0.05). These results suggest that continuous and systematic nutritional education should be performed in order to prevent and improve the unbalanced diets and problematic of dietary habits that may result in students due to attendance in extracurricular classes.

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Sample Size Determination for the Estimation of Population Density of Marine Benthos on a Tidal Flat and a Subtidal Area, Korea

  • Koh, Chul-Hwan;Kang, Seong-Gil
    • Journal of the korean society of oceanography
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    • v.33 no.3
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    • pp.113-122
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    • 1998
  • The requisite numbers of sample replicates for the population study of soft-bottom benthos were estimated from survey data on the Songdo tidal flat and subtidal zone in Youngil Bay, Korea. Large numbers of samples were taken; two-hundred-fifty 0.02 m$^2$ box corers and fifty 0.1m$^2$ van Veen grabs were taken on the Songdo tidal flat and in Youngil Bay, respectively. The effect of sampler size on sampling efforts was investigated by pooling the unit samples in pairs, fours, eights, etc. The requisite number of sample replicates (n$_r$) was determined by sample variance (s$^2$) and mean (m) function (n$_r$:s$^2$/P$^2$m$^2$), at P=0.2 level, in which s$^2$ and m were calculated from the counts of individuals collected. For example, seven samples of 0.02 m$^2$ corer for the intertidal and two samples of 0.1 m$^2$ van Veen grab for subtidal fauna were required to estimate the total density of community. The smaller sampler size was more efficient than larger ones when sampling costs were compared on the basis of the total sampling area. The requisite number of sample replicates was also predicted ($\^{n}$n$_r$) by substituting $\^{s}$$^2$ obtained from the regression of s$^2$ against m using the Taylor's power law ($\^{s}$$^2$:am$^b$). The regression line of survey data on s$^2$ and m plotted on log scale was well fitted to the Taylor's power law (r$^2$${\geq}$0.95, p<;0.001) over the whole range of m. The exponent b was, however, varied when it was estimated from m which was categorized into classes by its scale. The fitted exponent b was large when both density class and the sampler size were large. The number of sample replicates, therefore, could be more significantly estimated, if regression coefficients (a and b) would be calculated from sample variance and mean categorized into density classes.

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MHC Class II+ (HLA-DP-like) Cells in the Cow Reproductive Tract: I. Immunolocalization and Distribution of MHC Class II+ Cells in Uterus at Different Phases of the Estrous Cycle

  • Eren, U.;Sandikci, M.;Kum, S.;Eren, V.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.1
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    • pp.35-41
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    • 2008
  • This study was undertaken to investigate the distribution of major histocompatibility complex class II positive (MHC II+) (HLA-DP-like) cells in the cow uterus (cervix, corpus and cornu uteri) and to compare these cells between the estrus and diestrus phases of the estrous cycle. Twenty-nine multiparous cows were used. Tissue samples from the middle of the cervix, the corpus and the right cornu were taken immediately after slaughter at the estrus or diestrus phase. Streptavidin-biotin peroxidase complex staining was used to detect MHC II+ cells. The number of MHC II+ cells per unit area of tissue was counted using image analysis software under a light microscope. Numerous MHC II+ cells were found in the endometrium (cervix, corpus and cornu uteri) in both estrus and diestrus. MHC II+ cells were found in the surface epithelium of the cervix uteri in diestrus, but in the corpus uteri in both estrus and diestrus and in the cornu uteri in estrus. MHC II+ cells were also found freely in the lumen of the glands and between the gland epithelia of the corpus and cornu uteri in both estrus and diestrus. There were also MHC II+ cells in the connective tissue of the myometrium and perimetrium (outside the endometrium) and around the blood vessels. Endothelial cells were frequently positive for MHC II staining. More MHC II+ cells were found in the endometrium than outside the endometrium in both estrus and diestrus (p<0.001). However, there was no difference in the numbers of positive cells between estrus and diestrus either in the endometrium or outside it. These results are the first evidence for HLA-DP-like MHC II+ cells in the bovine uterus. They indicate that antigen presentation by HLA-DP-like MHC II+ cells of the uterus is not influenced by hormonal status.

Gamma Knife Radiosurgery for Ten or More Brain Metastases

  • Kim, Chang-Hyun;Im, Yong-Seok;Nam, Do-Hyun;Park, Kwan;Kim, Jong-Hyun;Lee, Jung-Il
    • Journal of Korean Neurosurgical Society
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    • v.44 no.6
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    • pp.358-363
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    • 2008
  • Objective : This study was performed to assess the efficacy of GKS in patients with ten or more brain metastases. Methods : From Aug 2002 to Dec 2007, twenty-six patients (13 men and 13 women) with ten or more cerebral metastatic lesions underwent GKS. The mean age was 55 years (32-80). All patients had Karnofsky performance status (KPS) score of 70 or better. According to recursive partitioning analysis (RPA) classification, 3 patients belonged to class I and 23 to class II. The location of primary tumor was lung (21), breast (3) and unknown (2). The mean number of the lesions per patient was 16.6 (10-37). The mean cumulated volume was 10.9 cc (1.0-42.2). The median marginal dose was 15 Gy (9-23). Overall survival and the prognostic factors for the survival were retrospectively analyzed by using Kaplan Meier method and univariate analysis. Results : Overall median survival from GKS was 34 weeks (8-199). Local control was possible for 79.5% of the lesions and control of all the lesions was possible in at least 14 patients (53.8%) until 6 months after GKS. New lesions appeared in 7 (26.9%) patients during the same period. At the last follow-up, 18 patients died; 6 (33.3%) from systemic causes, 10 (55.6%) from neurological causes, and 2 (11.1 %) from unknown causes. Synchronous onset in non-small cell lung cancer (p=0.007), high KPS score (${\geq}80$, p=0.029), and controlled primary disease (p=0.020) were favorable prognostic factors in univariate analysis. Conclusion : In carefully selected patients, GKS may be a treatment option for ten or more brain metastases.

Adjustment of Lactation Number and Stage on Informal Linear Type Traits of Holstein Dairy Cattle

  • Do, Chang-Hee;Jeon, Beong-Soon;Sang, Byung-Chan;Lee, Dong-Hee;Pearson, Ronald E.
    • Journal of Animal Science and Technology
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    • v.52 no.6
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    • pp.467-473
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    • 2010
  • A total of 4,323,781 records for informal 16 primary linear descriptive traits of dairy cows in Holstein breed from 1988 to 2007 in USA were analyzed to estimate adjustment factors for lactation number and stage. While all factors in the model were highly significant (P < 0.01), major influences on linear type traits were due to lactation number and stage. The frequencies of lactation number 1 through 6 were 58.6, 22.0, 11.8, 4.8, 2.1, and 0.8%, respectively. Further, the frequencies of lactation stage were 0.7, 76.9, 15.3, 4.9, and 2.1%, respectively, for springing, early, medium, late, and dry. To adjust 16 linear traits (stature, dairy form, strength, body depth, rump width, rump angle, legs rear view, leg set, foot angle, fore udder, rear udder height, rear udder width, udder support, udder depth, and front teat placement), additive and multiplicative adjustment factors of lactation number (lactations 2 to 4) and stage (springing, medium, late and dry) were estimated with the solutions in the generalized linear model, assigning lactation 1 and stage early as base class. Additive adjustment factors of lactation number ranged from -1.23 to 2.908, while multiplicative factors ranged from 0.853 to 2.207. Further, additive and multiplicative adjustment factors for lactation stage ranged from -0.668 to 0.785, and from 0.891 to 1.154. Application of adjustment factors to 20 randomly sampled sub-data sets produced the results that additive adjustment factors for both lactation number and stage reduced more mean square of lactation number and stage over 16 linear traits than any combination of adjustments, and leaded additive adjustment factors for both lactation number and stage as a choice of methods for adjustment of informal 16 primary linear type traits collected by classifiers of AI studs.

Structural and Bonding Trends among the B7C11-,B6C2, and B5C31+

  • Park, Sung-Soo
    • Bulletin of the Korean Chemical Society
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    • v.26 no.1
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    • pp.63-71
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    • 2005
  • Equilibrium geometries, electronic structures, and energies of borocarbon clusters (binary compounds of carbon and boron), an unexplored class of molecules with highly unusual characteristics and potential for further development, have been investigated by means of B3LYP/6-311+G$^*$ density functional theory computations. A large number of B$_7$C${_1}^{1-}$, B$_6C_2$, and B$_5C_{3}\,^{1+}$ clusters with planar and non-planar monocyclic and polycyclic rings, as well as cage structures, have been systematically studied. Unexpectedly, planar forms are predicted not only to be the most stable structures, but also, in many cases, to have unprecedented planar heptacoordinate boron (p-heptaB) and planar heptacoordinate carbon (p-heptaC) arrangements. All these pheptaB and p-heptaC have 6π electrons and are aromatic according to the nucleus independent chemical shift (NICS). This novel bonding pattern is analyzed in terms of natural bond orbital (NBO) analysis. For virtually all possible B$_7$C${_1}^{1-}$, B$_6C_2$, and B$_5C_{3}\,^{1+}$ combinations, the p-heptaB arrangements are the more stable than other type structures.

A Comparative Analysis of the Kinetic Structure in Lectures on a High School Science (고등학교 공통 과학 강의에서 교사에 따른 역동적 구조의 정량적 비교 분석)

  • Yu, Seung-Geun;Lee, Joon-Sang
    • Journal of The Korean Association For Science Education
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    • v.20 no.4
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    • pp.505-509
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    • 2000
  • The kinetic structure of the content of instructions at the unit of 'heart and circulation' in "the common science", which was respectively given by two teachers majored in biology and two teachers majored in earth science was investigated. Concerning of the mean of the fundamental coefficient (B1), the mean of weighted coefficients (B2) and the progression of instruction (P), T4 (B1, 0.14; B2, 0.82; P; 0.86) teacher showed relatively lower kinetic structure and faster progression than those of the others. The other teachers showed a different level of the kinetic structure and progression: T1(B1, 0.21; B2, 0.86; P; 0.79), T2 (B1, 0.02; B2, 0.85; P; 0.80), and T3 (B1, 0.22; B2, 0.83; P; 0.78). T1 teacher who showed the largest total frequency of verbal elements, the great number of sorts of verbal elements and secondary span, had a higher level of the kinetic structure, but T4 teacher showed the lowest level of total frequency of verbal elements, the great number of sorts of verbal elements and secondary span. The main reason why T4 teacher's instruction achieved a lower level of kinetic structure was estimated that he neglected to reorganize teaching materials and he showed a small number of discourse units. In addition, the unit of 'heart and circulation' was less related to T4 teacher's major and T4 teacher had a shorter teaching experience than those of the others. T4 teacher also took charge of only one class, and this did not allow to instruct repeatedly.

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Evaluation of Cavity Wall Adaptation of Bulk-fill Resin Composites in Class II Cavities of Primary Molar (유구치 2급 와동에서 bulk-fill 복합레진의 와동적합성 평가)

  • Bae, Youngeun;Shin, Jonghyun;Kim, Shin;Jeong, Taesung;Kim, Jiyeon
    • Journal of the korean academy of Pediatric Dentistry
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    • v.44 no.4
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    • pp.446-454
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    • 2017
  • Recently, there have been many studies on bulk-fill resin composites. However, studies on the proper materials for pediatric patients are rare. The aim of this study was to compare the cavity wall adaptation of bulk-fill resin composites with conventional resin composite in class II cavities of primary molars using microcomputed tomography (micro-CT). Standardized class II slot cavities were prepared in 80 exfoliated primary molars and randomly divided into 4 groups. The control group was restored with conventional resin composite, Filtek Z-350 XT (FZ), and the three groups were restored with bulk-fill resin composites, Filtek bulk-fill posterior (FB), Tetric N-Ceram Bulk Fill (TNC), Filtek bulk-fill flowable (FBF). All specimens were thermocycled and then immersed in 50% silver nitrate ($AgNO_3$) solution. Micro-CT was used to measure the penetration volume of the total silver nitrate and the degree of cervical marginal leakage and the number, size, and position of the voids were evaluated. The results revealed that the volume of silver nitrate were significantly different between FB and FZ (p < 0.05). The results also revealed that the penetration length of silver nitrate FBF showed statistically lower than the FZ and FB (p < 0.05). There was no significant difference between the groups in number and size of voids. In conventional resin composite, most of the voids were present inside the restoration (83.3%), but the voids in the bulk-fill resin composites incidence were higher in the gingivoaxial angle. The cavity wall adaptation demonstrated in class II restorations of primary molar by new bulk fill resin composites was similar to conventional incremental technique. Bulk-fill resin composites might be an clinical option for a faster restoration in deciduous teeth.

DYNAMICAL BEHAVIOUR OF A DRINKING EPIDEMIC MODEL

  • Sharma, Swarnali;Samanta, G.P.
    • Journal of applied mathematics & informatics
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    • v.31 no.5_6
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    • pp.747-767
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    • 2013
  • In this paper we have constructed a mathematical model of alcohol abuse which consists of four compartments corresponding to four population classes, namely, moderate and occasional drinkers, heavy drinkers, drinkers in treatment and temporarily recovered class. Basic reproduction number $R_0$ has been determined and sensitivity analysis of $R_0$ indicates that ${\beta}1$ (the transmission coefficient from moderate and occasional drinker to heavy drinker) is the most useful parameter for preventing drinking habit. Stability analysis of the model is made using the basic reproduction number. The model is locally asymptotically stable at disease free or problem free equilibrium (DFE) $E_0$ when $R_0&lt;1$. It is found that, when $R_0=1$, a backward bifurcation can occur and when $R_0&gt;1$, the endemic equilibrium $E^*$ becomes stable. Further analysis gives the global asymptotic stability of DFE under some conditions. Our important analytical findings are illustrated through computer simulation. Epidemiological implications of our analytical findings are addressed critically.