• Asian Pacific Journal of Cancer Prevention
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• v.17 no.4
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• pp.1917-1923
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• 2016

Background: Lynch Syndrome (LS) is a familial cancer condition caused by germline mutations in DNA mismatch repair genes. Individuals with LS have a greatly increased risk of developing colorectal cancer (CRC) and it is therefore important to identify mutation carriers so they can undergo regular surveillance. Tumor DNA from LS patients characteristically shows microsatellite instability (MSI). Our aim here was to screen young CRC patients for MSI as a first step in the identification of unrecognized cases of LS in the Saudi population. Materials and Methods: Archival tumor tissue was obtained from 284 CRC patients treated at 4 institutes in Dammam and Riyadh between 2006 and 2015 and aged less than 60 years at diagnosis. MSI screening was performed using the BAT-26 microsatellite marker and positive cases confirmed using the pentaplex MSI analysis system. Positive cases were screened for BRAF mutations to exclude sporadic CRC and were evaluated for loss of expression of 4 DNA mismatch repair proteins using immunohistochemistry. Results: MSI was found in 33/284 (11.6%) cases, of which only one showed a BRAF mutation. Saudi MSI cases showed similar instability in the BAT-26 and BAT-25 markers to Australian MSI cases, but significantly lower frequencies of instability in 3 other microsatellite markers. Conclusions: MSI screening of young Saudi CRC patients reveals that approximately 1 in 9 are candidates for LS. Patients with MSI are strongly recommended to undergo genetic counselling and germline mutation testing for LS. Other affected family members can then be identified and offered regular surveillance for early detection of LS-associated cancers.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.34-41
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• 2016

Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

• Korean Journal of Childcare and Education
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• v.10 no.6
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• pp.265-289
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• 2014

This study analyzed the change of after-school guardians' absence types during the first 3 school years, and the relations of after-school care, family environment(family income, parental monitoring) to self-regulatory learning ability and emotional-behavioral problems in each gender of early school-age children from dual income families. The data from 526 boys and 483 girls among 3rd graders of Korean Child and Youth Panel Survey(KCYPS) were statistically analyzed by Friedman's test, t-test, correlational coefficient analysis, regression analysis. The results showed that 45% of boys and 50% of girls were with a guardian for their after-school care in each of the first 3 school years and after-school care had changed gradually into the types of temporal or contingent absence of a guardian. Family income and children's self-regulatory learning ability were different from adult-care and self-care in each gender, but there were differences in the parental monitoring of girls and emotional-behavioral problems of boys according to the care types. Both of boys and girls showed that family environment meaningfully related with the ability and the problems, and also showed the relatively different effects of after-school care and family environment on those ability and problems variables. The results suggested some implications for after-school care.

• Cross-Cultural Studies
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• v.28
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• pp.115-139
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• 2012

Interval or duration of segments, syllables, words and phrases is an important acoustic feature which influences the naturalness of speech. A number of cross-sectional studies regarding acoustic characteristics of children's speech development found that intervals of segments, syllables, words and phrases tend to change with the growing age. One hypothesis assumed that decreases in intervals would be greater when children were younger and smaller decreases in intervals when older (Thelen,1991), it has been supported by quite a number of researches on the basis of cross-sectional studies (Tingley & Allen,1975; Kent & Forner,1980; Chermak & Schneiderman, 1986), but the other hypothesis predicted that decreases in intervals would be smaller when children were younger and greater decreases in intervals when older (Smith, Kenney & Hussain, 1996). Researchers seem to come up with conflicting postulations and inconsistent results about the change trends concerning intervals of segments, syllables, words and phrases, leaving it as an issue unresolved. Most acoustic investigations of children's speech production have been conducted via cross-sectional designs, which involves studying several groups of children. So far, there are only a few longitudinal studies. This issue needs more longitudinal investigations; moreover, the acoustic measures of the intervals of child speech are hardly available. All former studies focus on word stages excluding the babbling stages especially the canonical babbling stage, but we need to find out when concrete changes of intervals begin to occur and what causes the changes. Therefore, we conducted an acoustic study of interval characteristics of segments and words concerning Canonical Babble ( CB) and early speech in an infant aged from 0;9 to 2;4 acquiring Mandarin Chinese. The current research addresses the following two questions: 1. Whether decreases in interval would be greater when children were younger and smaller when they were older or vice versa? 2. Whether the child speech concerning the acoustic features of interval drifts in the direction of the language they are exposed to? The female infant whose L1 was Southern Mandarin living in Changsha was audio- and video-taped at her home for about one hour almost on a weekly basis during her age range from 0;9 to 2;4 under natural observation by us investigators. The recordings were digitized. Parts of the digitized material were labeled. All the repetitions were excluded. The utterances were extracted from 44 sessions ranging from 30 minutes to one hour. The utterances were divided into segments as well as syllable-sized units. Age stages are 0;9-1;0,1;1-1;5, 1;6-2;0, 2;1-2;4. The subject was a monolingual normal child from parents with a good education. The infant was audio-and video-taped in her home almost every week. The data were digitized, segments and syllables from 44 sessions spanning the transition from babble to speech were transcribed in narrow IPA and coded for analysis. Babble was coded from age 0;9-1;0, and words were coded from 1;0 to 2;4, the data has been checked by two professionally trained persons who majored in phonetics. The present investigation is a longitudinal analysis of some temporal characteristics of the child speech during the age periods of 0;9-1;0, 1;1-1;5, 1;6-2;0, 2;1-2;4. The answer to Research Question 1 is that our results are in agreement with neither of the hypotheses. One hypothesis assumed that decreases in intervals would be greater when children were younger and smaller decreases in intervals when older (Thelen,1991); but the other hypothesis predicted that decreases in intervals would be smaller when children were younger and greater decreases in intervals when older (Smith, Kenney & Hussain, 1996). On the whole, there is a tendency of decrease in segmental and syllabic duration with the growing age, but the changes are not drastic and abrupt. For example, /a/ after /k/ in Table 1 has greater decrease during 1;1-1;5, while /a/ after /p/, /t/ and /w/ has greater decrease during 2;1-2;4. /ka/ has greater decrease during 1;1-1;5, while /ta/ and /na/ has greater decrease during 2;1-2;4.Across the age periods, interval change experiences lots of fluctuation all the time. The answer to Research Question 2 is yes. Babbling stage is a period in which the children's acoustic features of intervals of segments, syllables, words and phrases is shifted in the direction of the language to be learned, babbling and children's speech emergence is greatly influenced by ambient language. The phonetic changes in terms of duration would go on until as late as 10-12 years of age before reaching adult-like levels. Definitely, with the increase of exposure to ambient language, the variation would be less and less until they attain the adult-like competence. Via the analysis of the SPSS 15.0, the decrease of segmental and syllabic intervals across the four age periods proves to be of no significant difference (p>0.05). It means that the change of segmental and syllabic intervals is continuous. It reveals that the process of child speech development is gradual and cumulative.

• Korean Journal of Applied Biomechanics
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• v.25 no.2
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• pp.183-190
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• 2015

Objective : Walking with a Material handling is an activity frequently undertaken by agricultural workers in Korea, due to the nature of their work. This study aimed to investigate differences in biomechanical variables according to the mechanical alignment of the lower limbs when walking with a heavy load, and to use this as basic data in the design of various working environments to reduce the skeletomuscular burden on the knee joint. Method : The study subjects comprised of 22 right-foot dominant adult men and women aged between 20 and 23 years. The subjects were divided into a varus or valgus group according to the mechanical alignment of the lower limb by using radiographic findings. The subjects walked without any load and with a load of 10%, 20%, or 30% of their body weight held in front of them. The Kwon3d XP program was used to calculate biomechanical variables. Results : The flexion/extension moment of the knee joint showed a decreasing trend with increased load, irrespective of the mechanical alignment of the lower limb, while the varus group did not show normal compensatory action when supported by one leg at the point of maximum vertical ground reaction force. In addition, in terms of the time taken, subjects showed no difficulties in one-foot support time up to 20%/BW, but at 30%/BW, despite individual differences, there was an increase in single limb. The increased load resulted in a decrease in the ratio of standing phase to ensure physical stability. The valgus group showed a trend of increasing the stability of their center of mass with increasing load, through higher braking power in the early standing phase. Conclusion : In conclusion, although there was no statistical difference in biomechanical variables according to the mechanical alignment of the lower limbs, the varus group showed a more irregular walking pattern with a Material handling than the valgus group, partially proving the association between lower limb alignment and walking with a Material handling.

• Journal of the East Asian Society of Dietary Life
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• v.5 no.1
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• pp.41-51
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• 1995

Bone mass accretion during puberty appears to be critical in the development of peak bone mass. Although bone density of females in Korea has been studied, only a few studies have related bone mass with anthropometric patterns or puberty in the pubescent girls. This study was conducted as part of a study of major determinants of bone development during puberty. Subjects were aged 14∼16 yr(mean 14.97), and had no history of disorders or dedication use likely to influence bone or calcium metabolism. Bone mineral density and content were measured by dual energy X-ray absorptiometry using a Lunar DPX+Scanner (Lunar Madison, WI). Also, total body fat, and total lean body mass were assessed using a Lunar DPX dual-energy X-ray absorptiometer, Pubertal status was assessed according to the Marshall and Tanner guidelines. Serum levels of osteocalcin was measured by RIA using a commercial kit assay. Skinfold measurements were taken with a skinfold caliper(Lange Caliper, USA). Data were analyzed using the regression and GLM procedure of the statistical package SAS. The results indicated that the observed means for lumbar spine BMD and femoral BMD correspond to approximately 91% and 96% of the means for young adult females, respec tively. All subjects were menarchal, with the majority being in the middle to end stages of pubertal development. Total body BMD was positively related to fat mass(P<0.001), lean body mass and time since menarche, and negatively related to urine pyridinoline, serum alkaline phosphatase and osteocalcin. The data indicate that girls who reported lower age for menarche had significantly higher bone densities than girls who reported higher age for menarche. Attaining peak skeletal bone mass during puberty may reduce the incidence of osteoporosis in later life. this finding suggests that early menarche may augment peak bone mass, influencing the extent of bone loss later in adulthood. The results suggest that good nutrition in childhood appears to be needed not for growth and development, but possibly also to assure an optimal peak of bone mass and thus greater latitude for the maintenance or skeletal integrity in the face of bone losses. Troeps skinfold thickness was a better predictor of total BMD and total BMC than was any other skinfold thickness. The study did not find a relationship between total BMD and body fat %, but total fat was significantly positively related to total BMD(r=0.49) and total BMC(r=0.60). It supports earlier report that there was a significant correlation between TBMD and body weight. Conclusively, total fat, lean body mass and pubertal development could influence BMD in pubescent girls. Clearly, longitudinal studies are required to assess the effect of puberty on peak bone mass, and to define further the potential determinants of peak bone mass.

• The Journal of the Convergence on Culture Technology
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• v.9 no.5
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• pp.927-934
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• 2023

This study explored the process of how children are connected to and placed in the daycare center's interest area environment. Focusing on the process of getting to know, we tried to understand it through Deleuze's concept of connection-placement, which emphasized the power between materials and humans, to see how the familiar environment called the area of interest affects children's behavior. For this purpose, 20 children in the mixed class aged 4-5 years at B Daycare Center in Seoul were observed for a total of 2 hours each through 2 preliminary observations and 5 research observations from March to May 2023. First, the results of the study showed that infants' true interest could be found in the infant's gaze, not in the adult's gaze. Second, the space and play materials of the interest area environment are structurally arranged in accordance with the order of play types, but the boundaries become ambiguous as they are connected to children. Third, although the children's play seemed to be play without deviating from each area of interest, the space itself was a single mass in which interest was expressed. We hope that this study will help instructors in their practice of constructing an environment for areas of interest, and that we will become instructors who ask questions at every moment about what kind of traces will be left on children's thinking as the environment of space and media.

• Journal of muscle and joint health
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• v.5 no.1
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• pp.83-109
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• 1998

This study was carried out to identify the Important modifiable risk factors for reduced bone mass and to construct prediction model which can classify women with either low or high bone mass. Through the literature review, individual characteristics such as age, body weight, height, education level, family history, age of menarche, postmenopausal period, gravity, parity, menopausal status, and breast feeding period were identified and factors of life style such as past milk consumption, past physical activity, present daily activity, present calcium intake, alcohol intake, cigarette smoking, coffee consumption were identified as influencing factors of reduced bone mass in women. Four hundred and eighty women aged between 28 and 76 who had given measurement bone mineral density by dual energy x-ray absortiometry in lumbar vertebrae and femur from July to October, 1997 at 4 general hospitals in Seoul and Pusan were selected for this study. Women were excluded if they had a history of any chronic illness such as rheumatoid arthritis, diabetes mellitus, hyperthroidism, & gastrointestinal disorder and any medication such as calcium supplements, calcitonin, estrogen, thyroxine, antacids, & corticosteroids known affect bone. As a result of these exclusion criteria, four hundred and seventeen women were used for analysis. Multiple logistic regression model was developed for estimating the likelihood of the presence or absence of reduced bone mass. A SAS procedure was used to estimate risk factor coefficient. The results are as follows For lumbar spine, the variables significant were age, body weight, menopause status, daily activity, past milk consumption, and past physical activity(p<0.01), while for femoral Ward's triangle, age, body weight, level of education, past milk consumption, past physical activity(p<0.001). Past physical activity, present daily activity and past milk consumption are the most powerful modifiable predictors in vertebrae and femur among the predictors. When the model performance was evaluated by comparing the observed outcome with predicted outcome, the model correctly identified 74.1% of persons with reduced bone mass and 84.5% of persons with normal bone mass in the lumbar vertebrae and 82.9% of persons with reduced bone mass and 75.0% of persons with normal bone mass in the femoral Ward's triangle. On the basis of these results, a number of recommendations for the management of reduced bone mass may be made : First, those woman who are classified as high risk group of the reduced bone mass in the prediction model should examine the bone mineral density to further examine the usefulness of this model. Second, the optimal amount of milk consumption and a regular weight bearing exercise in childhood, adolescence, and early adult should be ensured.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.1
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• pp.62-67
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• 2002

Purpose: The aim of this study was to investigate the age of onset and the prevalence of lactose malabsorption in early childhood in Korea. Methods: We conducted a study of lactose malabsorption by breath hydrogen test in healthy children aged between 25~96 months old. Standard lactose loading (2 g lactose/kg, maximum 40g) test was done in 129 children and cow's milk (10 mL/kg) loading in 126 children followed by breath sampling of 60 and 120 minutes after the loading. An increase above baseline of 20 ppm or more was used as a criteria for positive responses. Results: The prevalence of lactose malabsorption was 7% in 25~36 months old, 19% in 37~48 months old, 35% in 49~60 months old, 55% in 61~72 months old, 82% in 72~84 months old, 80% in 85~96 months old children. Only 1% of the children showed positive result in breath hydrogen test after the cow's milk challenge. Conclusion: The prevalence of lactose malabsorption was increased between 37 months and 60 months of age, reached to adult level of prevalence after 72 months of age. When physiological dose of lactose was used as the challenge, the number of lactose malabsorbers become clinically insignificant.

• Journal of radiological science and technology
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• v.40 no.4
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• pp.581-587
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• 2017

This study was based on the data of total mineral content of about 99% at the age of 16-26 years, we aimed at female university students who are important for bone formation in their early 20s. The purpose of this study was to investigate factors of eating habits affecting their bone density and to provide data to prevent osteoporosis which might occur in the future. It was conducted on 100 female university students in their 20s, the bone mineral density according to BMI was measured by DEAX, and the analysis of 10 eating habits items and the results of BMD measurement on their own results in Excel 2010. As a result, the height was $161.08{\pm}4.70cm$, the weight was $52.43{\pm}6.43kg$, and the BMI was $20.22{\pm}2.48$, which correlated with BMD (p<0.05). According to the BMI classification, 20 had low weight and 80 had normal weight, and BMD was $0.20{\pm}0.41$ at normal weight. In the same sex, the mean T-score of the young adult group was $-0.04{\pm}0.99$ compared with the BMD of the young adult group, and the mean Z-score of the same age group was $0.02{\pm}0.93$ (p<0.001). Eating habits affecting bone mineral density were significantly affected by 3 meals per day, 1-3 cups of coffee per day and p<0.05 for Low salt formula intake. 6-9 dairy product intake was also p<0.05 but not significant. Therefore, it is considered that when 20s female students become middle-aged woman, they should have proper eating habits so that osteogenesis can be improved at young age in order to prevent bone disease.