• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.11 no.1
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• pp.3-15
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• 2000

Objectives：There has been a rapid expansion of studies aimed at elucidating the genetic basis of autistic disorder, especially it’ relationship to fragile-X syndrome. The detection of fragile X chromosome(Xq27.3) by cytogenetic analysis has revealed many difficulties in testing. Therefore, to explore the relationship between autistic disorder and fragile X syndrome, this study administered molecular biologic methods which examined an unstable CGG repeat within the fragile X mental retardation-1(FMR-1) gene. Methods：Ninety nine autistic children and eight normal control children were tested. The number of CGG repeats within FMR-1 gene was measured after amplification by PCR, and cytogenetic analysis was also carried out to detect fragile site Xq27.3. Southern blot hybridization, using StB12.3 and/or Pfxa3 probe, was done for the patients showing expansion of more than 50 CGG repeats (premutation). Results：All but two autistic patients had no expansion in CGG repeats by PCR and there was no significant statistical difference in number of CGG repeat in comparison with normal control. Two autistic patients, considered as premutation by PCR analysis, had no full mutation or premutation by Southern blot hybridization. All autistic children tested did not have any abnormal karyotype or fragile site Xq27.3. Conclusions：These results suggest that autistic patients may not have abnormality in FMR-1 gene or abnormal expansion in CGG repeat. In conclusion, fragile X syndrome may not be antecedent of autistic disorder.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.9 no.1
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• pp.13-25
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• 1998

Aim：We think that the most important etiology in parent abuse is the psychodynamic and psychopathology in the family. So, we investigated the adolescents being admitted in SNMH, whose chief complaints were parent abuse. We were trying to explore families psychodynamic and psychopathology, especially mother-child interaction and to differentiate them in according to developmental psychopathology. Method：Our objects were the adolescent patients admitted in SNMH from 1987 to 1997 because they attacked parents verbally and physically. We examined 21 adolescents except those with psychosis, organic mental disorder, autism and mental retardation by means of interview or chart review. Result and Conclusion：The number of male patients was 14 and the number of female patients was 7. The most common diagnosis was conduct disorder and borderline personality disorder. The mean age was in the mid-teens. We observed 4 subgroups that were divided developmentally in object relation. 1) Symbiotic group with mother：(1) They did not separate and remain in symbiotic relationships with their mothers based on insecure attachment. Fathers were abscent emotionally and physically, and their mothers were prominent in close relationships with the patients in their family , where as the patients were the only man in the family. Adolescents entered the second separation-individuation. They expressed anger and internal tension involved with the close attachment with their mothers and also attempted separation from their mothers through physically attacking them. (2) These patients had suffered from physical illness and developmental delay since birth. Therefore the parents overprotected their children. The children had persistent infantile omnipotence and fantasies of power, so they could not deal with unrealistic states, adapt to reality, and depended on their parents overtly. They easily acted out unless their demands were fulfilled. 2) Borderline personality disorder：We observed deficiencies in care taking. Their parents had personality problems and immaturity. They coulden’t help their children to be separated in the rapproachment phase. Their conflict about dependence-independence was revived in the second separation-individuation adolescent period. We understand parent abuse as an attempt to overcome the conflict. 3) Conduct disorder：They did not build up basic attachment with their parents. They think of their parents as only a means of fulfilling their needs. When patients’ need were not fulfilled and remained in a conflicted state, they attacked their parents, unable to control their aggressions and impulses.

• The Korean Journal of Rehabilitation Nursing
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• v.4 no.2
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• pp.240-247
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• 2001

The history of rehabilitation of disabilities in Korea began with the foreigners and missionaries who were interested in it after Korean War. In 1981, Disabled Persons Welfare Act was enacted and the 88 Paralympics brought the nations attention to the welfare and rehabilitation of persons with disabilities. Since then, the facilities and the services for the disabled persons have expanded rapidly and the rehabilitation treatment and nursing intervention are drawing more attention. Against this background, the survey on the current status of disabilities, welfare service, facilities, and rehabilitation nursing was conducted. The results of this survey are as follows. 1. According to the 2000 census of disabilities, the number of persons with disabilities in Korea is estimated at 1,449,500, or 3.09% of the entire Korean population, 0.74% up from 2.35% in 1995. 2. Disability Types in 2000 The 2000 census showed that the persons with disabilities numbered 1,449,496 out of the total population and 1,024,371 persons are registered for disability, making up 70.7% of the estimated disabled population. Among them, physically disabled persons accounted for the largest 41.7% (605,127) and mentally retarded persons stood at the smallest 9% (13,481). 3. Percentage of Disability Presence The survey showed that more than 90% of disability were acquired. However, 44.8% of mental disability and 61.4% of hearing/speaking disability were not acquired after birth. This means that these disabilities happened by congenital cause or birth accident. 4. Yearly Figure of Registered Disabled Persons In 1989, 218,601 persons registered for disability and, in 2000, the number increased by 4.7 times to 1,024,371. These figures are different from the actual number of disabled persons. According to the 1995 census, 1,053,486 were disabled persons but only 378,323registered for disability. And, in the 2000 census, 1,024,371 out of the 1,449,496 of disabled persons registered for disability. 5. Welfare Service for Persons with Disability 62.6% of the total disabled people are registered and physically disabled persons accounted for the highest percentage of 96.7%. 26.5% of non-registered disabled people said that they didnt know the registration procedure. The rest of them replied that they didnt think they were disabled or that registration didnt seem to give any benefits. 6. Welfare Policies for Disabled Persons The welfare benefits given to the disabled are as follows: Issuance of disabled sign for car drivers, Permission to use LPG fuel, Communication fee reduction, Tax exemption related to cars, Reduction of public facility fees, Household allowance, Tax reduction or exemption, Medical allowance and education subsidy for children, and Housing. 7. Current Condition of Welfare Facilities by Disability Type The welfare institutions for disabilities numbered 188 in total and they can accommodate 16,823 persons. Categories of these institutions are physical disability(37), visual disability(10), hearing/speaking disability(14), mental retardation(59), and sanatoriums(68). 8. Human Resource of Rehabilitation of Disabilities Advanced education programs include rehabilitation nursing in its curriculum and this was selected as the program of Korean Academic Society of Nursing in 1990. In November 1997, Korean Academic Society of Rehabilitation Nursing was launched and many academic meeting and seminars were held. This organization is also making efforts to develop the education program for qualified rehabilitation nursing professionals and to develop the standards of rehabilitation nursing practice. In the professionals of the rehabilitation, there are rehabilitation specialist, physical therapist, speech therapist, occupational therapist. It is needed to come up with the measures to supply stable human resources following the demand of disabled persons and to recognize the private certificates for rehabilitation professionals as official ones after reviewing the education and training programs of private institutions. 9. Rehabilitation Nursing 1) Rehabilitation nursing was taught as an independent subject in 11 undergraduate programs and 9 graduate programs. 2) Research on rehabilitation nursing in Korea were 24 experimental research and 11 non-experimental research. The intervention of experimental research were mostly education and exercise rehabilitation programs. 3) In the three rehabilitation hospitals, nursing is divided into two categories, direct nursing and education & counseling. Direct nursing includes tracheostomy or nasogastric tube care, urination and defication, skin care, pain control, complication prevention and care, prevention of injury from a fall, etc.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Development and Reproduction
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• v.10 no.2
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• pp.105-113
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• 2006

Reactive oxygen species(ROS) generated in cellular metabolism have an effect on cell maturation and development. In human reproductive tract, oxidative injury by ROS may induce female infertility. Also, oxidative injury may be responsible for developmental retardation and arrest of mammalian preimplantation embryos. Activating transcription factor 4(ATF4) is a member of the cyclic-AMP response element-binding(CREB) familiy of basic region- leucine zipper(bZip). ATF4 is known to regulate stress response to protect cell from various stress factors and inducer of apoptisis. The purpose of this study was to investigate whether ATF4 is involved in the defensive mechanism in oxidative stress condition during the development of mouse preimplantation embryos. To verify the expression of ATF4 in oxidative stress condition, 2-cell stage embryos were cultured in HTF media containing 0.1mM, 0.5mM or 1mM hydrogen peroxide($H_2O_2$) for 1hr(2-cell), 8hr(4-cell), 17hr(8-cell), 24hr(morula), 48hr(early blastocyst) or 64hr(late blastocyst). The developmental rate decreased in the 0.1mM $H_2O_2$ treated group compared with control group. In embryos treated with 0.5mM and 1mM $H_2O_2$ showed 2-cell block. As a results of the semi-quantitative RT-PCR analysis of SOD1, ATF4 and Bax gene expression, SOD1, ATF4 and Bax genes were increased in 0.1mM, 0.5mM, 1mM $H_2O_2$ treated groups compared with control group. In 2-cell embryos, expression of SOD1, ATF4 and Bax genes were notably increased in 0.1mM, 0.5mM, 1mM $H_2O_2$ treated groups compared with control group. Immunofluorescence analysis showed that ATF4 protein was localized at the cytoplasm of preimplantation embryos. The increase in ATF4 immunoreactivety was observed in the 0.1mM, 0.5mM, 1mM $H_2O_2$ treated groups compared with control group. It suggests that oxidative stress by $H_2O_2$ induces expression of ATF4 and may be involved in protection mechanism in preimplantation embryos from oxidative injury.

• KSCE Journal of Civil and Environmental Engineering Research
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• v.38 no.1
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• pp.81-90
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• 2018

The purpose of this study is to evaluate the effect of downward speed limit of urban arterial roads at 29 sites in Busan Metropolitan Police Agency to reduce road traffic accidents from '10 to '15. As a result of analyzing the traffic accidents occurred for 1~3 years after the decrease in the speed limit, the number of traffic accidents decreased by 3.09% and the number of injured persons decreased by 8.76%, but the number of deaths decreased by 36.73% The results of this study are as follows. The average speed reduction rate of 6.31km/h was decreased by investigating the change of the vehicle speed before and after the downward speed limit, and the change of average speed was statistically significant in most of the sections. The rate of compliance with the speed limit increased by 10.26% p, which is considered to have greatly improved overall traffic safety. A survey conducted by residents near the target area with a lower speed limit showed that 57.9% of the respondents felt the driving speed of the vehicle was lowered. However, this project was focused on vehicles with limited speed road signs and traffic safety signs, Only 25.8% of respondents said walking safety was improved. In the future, it is necessary to consider the safety of pedestrians by improving roads around roads such as road curvature and separation. In addition, there is a clear positive result in terms of decreasing the fatal accidents in the downward speed limit zone of Busan Metropolitan Subway. However, more detailed analysis is needed for the 29 accidents. Therefore, it is expected that traffic practitioners will be able to utilize it as a basis to increase the accident reduction effect by setting an appropriate speed limit based on the easy and objective grounds.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.9 no.2
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• pp.210-217
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• 2006

Purpose: Crohn disease (CD) in children is frequently complicated by malnutrition and growth retardation. Conventional treatment with corticosteroid may also affect the growth of children, which may be alleviated by nutritional therapy. Therefore, we performed this study to evaluate the role of nutritional therapy in the treatment of CD in children. Methods: The study cohort consisted of thirty children under the age of 17 years, admitted to the Asan Medical Center from 2001 to 2005. While 11 children received nutritional therapy (NT) with an elemental diet, 19 received conventional corticosteroid therapy (ST). Comparative analysis was performed for the rate of the induction of remission, recurrence, disease activity index of pre and post-treatment, and changes of the growth using mean standard deviation score for weight (zW) and height (zH). Results: Ten of 11 children with NT and 18 of 19 children with ST completed the therapy. Two of them were lost to follow-up during the treatment. All 10 children with NT and 15 of 18 children with ST achieved remission. While there was no recurrence in children with NT, 7 with ST showed recurrence within 1 year. Pre- and post treatment Pediatric Crohn disease Activity Index (PCDAI) did not show a difference between the two groups. There were no differences in zW and zH between the two groups after 1 year of follow-up. Conclusion: This study showed that nutritional therapy could be considered instead of steroid therapy for treatment of children with CD. However, a long-term study will be needed to determine the long-term efficacy.

• Clinical and Experimental Pediatrics
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• v.50 no.8
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• pp.732-739
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• 2007

Purpose : A universal standard of the birth weight for gestational age cannot be made since birth weight distribution varies with races, nations and eras. This report aims to establish the birth weight for gestational age patterns by sex, plurality, and parity, specific for Korean live births. Methods : The national birth certificate data of all live births in Korea from January 2000 to December 2004 were used: for live births with gestational age 24 weeks to 42 weeks (n=2,585,5160), mean birth weight, standard deviation and 10th, 25th, 75th and 90th percentile values were obtained for each gestational age group by one week increment. To establish final standard values of Korean birth weight distribution by gestational age, the finite mixture model to eliminated erroneous birth weights was used for respective gestational age. Same as above method the birth weight for gestational age standard by sex, plurality, and parity were completed. Results : The male newborns are more heavier than female during the entire gestational age. The singletons are more heavier than twin during the entire gestational age. The para 2 are more heavier than the para 1 during the entire gestational age. Korean standard was more heavier in 10th and 50th percentile than Lubchenco's standard. Alexander's standard was more heavier in 50th and 90th percentile than Korean standard. Conclusion : These birth weight for gestational age patterns by sex, plurality, and parity are similar to the other standards. I hope that for Korean infants, this curve will help clinicians in defining and managing the large for gestational age infants and also for infants with intrauterine growth retardation.

• Korean Journal of Child Studies
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• v.1
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• pp.65-81
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• 1980

This study is aimed at investigating the compensatory education which was already implemented or is being implemented in the U.S.A. and Japan; and at studying the types of programs and their characteristics; and at sounding out the possibilities of the application of such programs in family and social conditions is Korea. In order to achieve the above mentioned objectives, the established items for the study are as follows: (1) Various types of early children's education (2) Programs of compensatory education for the disadvantaged Children (3) Head Start Program, Early Training Project and Montessori School (4) Integrated Preschool Programs (5) Day-Care Center for employed mothers We investigated the various compensatory education programs for the preschool children who are in economically, socially, culturally disadvantaged conditions. Head Start Programs were federally supported programs for preschool children and opened as summer programs in 1965 for the first time. The purpose of Head Start has been to give preschool children the kinds of experiences they need in preparation for school. The Head Start children were found to be significantly better prepared for school than the normal children. However, after six to eight months, their initial advantages had virtually. disappeared and then the simple problem with Head Start and other such programs was that little long-term good could be evidenced unless the high quality educational environment was maintained. Therefore, to solve this problem, three other programs were funded as part of the overall Head Start. These three programs are the Parent-Child Center, Home Start, and the Child and Family Resources Program. The Early Training Project for disadvantaged children was implemented by Klaus and Gray of Peabody College in 1962. The program was a field research study concerned with the development and testing over time of procedures for improving the educability of young children from low income homes. Its major concern was to study whether it was possible to offset the progressive retardation observed in the public schooling careers of children, living in deprived circumstances. Children, who were trained through the Early Training Project were superior to control groups in the test of IQ and vocabulary as well as linguistic abilities, and preparation for reading. This project showed the possibilities which could prevent preschool children from being disadvantaged socially, culturally and mentally. In 1907, Montessori School was established by Maria Montessori in Italy and her school program has been introduced at present to several countries in the world as one compensatory educations. She first began her experimental methods with retarded children, followed by disadvantaged children from the tenements of Rome. The Montessori approach futures a prepared environment and carefully designed, self-correcting materials. The Montessori curriculum presents tastes that feature sequence, order, and regularity, in addition to those that develop motor and sensory skills. She was interested in children's intellectual development and in developing good work habits. One of the latest developed programs for disadvantaged children is "Integrated Preschool Program" which has successfully integrated handicapped and nonhandicapped children. Several studies have showed that handicapped children in integrated school environments are accepted by and interact with their nonhandicapped peers. In fact, this program provides a number of potential, and perhaps opportunities for nonhandicapped children to serve as valuable resources in fostering the development of their handicapped peers. Next we turn to Japanese programs which are divided into two different types. One is Day-Care Center which was established by Child Welfare Law and the other is kindergarten organized by School Education Law. The kindergarten opened in 1876 and it has been part of school systems since 1947 by the implementation of education law, and the Day-Care Center which started in 1890 for the employed mothers. was changed into Day-Nursery by the enactment of child welfare law in 1947. The laws and operational regulations for the Day-Nursery were set up and were put in effect by the establishment standard acts of children welfare facilities, and the Day-Nursery has been operated in various types by the increasing demand, chiefly because of the socio-economical changes of family structures in both urban and suburban areas. Nursery education for physically and mentally disadvantaged children is for those who are blind, deaf and dumb, mentally retarded; physically disadvantaged by accidents or diseases. Montessori education in Japan was started in 1968 and many research groups for studying Montessori were organized. In 1977, Montessori remedial education society was also organized in which they started a number of studies; a study for developing materials; in-service training for the remedial education; and seminars and lectures, etc It is strongly suggested that we study the early educations that are being implemented in Japan and a variety of compensatory educations that were already implemented in the U.S.A. and modify them for the organization of our own model and properly accommodate them to our social needs.

• Journal of Yeungnam Medical Science
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• v.2 no.1
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• pp.103-111
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• 1985

Childhood epilepsy which has high prevalence rate and inception rate is one of the commonest problem encountered in pediatrician. In contrast with epilepsy of adult, in childhood epilepsy, more variable and varying manifestations are found because the factors of age, growth and development exert their influences in the manifestations and the courses of childhood epilepsy. Moreover epileptic children have associated problems such as physical and mental handicaps, psychologicaldisorders and learning disability. For these reasons pediatrician who deals with epileptic children experiences difficulties in making diagnosis and managing them. In order to improve understanding and management of childhood epilepsy, authors reviewed 103 cases of epileptic patients seen at pediatric department of Yeungnam University Hospital retrospectively. The patients were classified according to the type of epileptic seizure. Suspected causes of epilepsy, associated conditions of epileptic patients, age incidence and the findings of brain CT were reviewed. Large numbers of epileptic patients (61.2%) developed their first seizures under the age of 5. The most frequent type of epileptic seizure was generalized ionic-clonic, tonic, clonic seizure (49.5%), followed by simple partial seizure with secondary generalization (17.5%), simple partial seizure (7.8%), a typical absence (5.8%) and unclassified seizure (5.8%). In 83.5% of patients, we could not find specific cause of it, but in 16.5% of cases, history of neonatal hypoxia (4.9%), meningitis (3.9%), prematurity (1.9%), small for gestational age (1.0%), CO poisoning (1.0%), encephalopathy (1.0%), DPT vaccination (1.0%), cerebrovascular accident (1.0%) and neonatal jaundice (1.0%) were found, 30 cases of patients had associated diseases such as mental retardation, hyperactivity, delayed motor milestones or their combinations. The major abnormal findings of brain CT performed in 42 cases were cortical atrophy, cerebral infarction, hydrocephalus and brain swelling. This review stressed better designed classification of epilepsy is needed and with promotion of medical care, prevention of epilepsy is possible in some cases. Also it is stressed that childhood epilepsy requires multidisplinary therapy and brain CT is helpful in the evaluation of epilepsy with limitation in therapeutic aspects.