• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• The Journal of the Korea Contents Association
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• v.5 no.4
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• pp.11-19
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• 2005

With the development of IT technologies, IT environment is making great change over life whole and is displacing business and business achievement systems of industry at the fast speed. The system which is proposed in this paper, supports environments to share codes, execution files and objects between project teams to maximize productivity and efficiency in web environments. Through impact assessment which is achieved at correction and development of existing programming codes by maintenance requirements, it minimizes obstacle occurrence factors and supports tracing obstacle sources. Through conversion the correction and development histories of existing sources and executable files between project teams to XML documents suitable to share in web, it stores them to relational database. In this paper, through impact assessment and change management for the correction and development of applications in the existing system development environments, we support efficient IT developments.

• The Journal of The Korea Institute of Intelligent Transport Systems
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• v.7 no.5
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• pp.170-179
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• 2008

The disabled and elderly people have a wide variety of functional impairments. By disability and elderly user group definition identification of users needs and specification of emergency support system were studied. Existing technologies including location navigation and information exchange devise and communication systems were analyzed to design proper integrated system for emergency situations. There are two types of services considered in the project: assisted living services(ALS) including health and emergency needs and assisted mobility services(AMS) with transportation needs. To develop emergency support system, functional identification and requirements was studied through the analysis of existing emergency system and organization. The 4-step emergency management scheme was developed to preactive emergency service which include emergency detection identification, response and follow-up steps.

• The Journal of Korean Academy of Sensory Integration
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• v.3 no.1
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• pp.1-11
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• 2005

Objective : The purpose of this study was to get the mean of duration of post-rotatory nystagmus test in normal children and to differentiate the duration of post-rotatory nystagmus test between normal children and children with pervasive developmental disorder. Method : 84 subjects were between 3 and 5 years of age and consisted of 64 normal children and 20 children with the pervasive developmental disorder. Analysis of the data was done by using t-test and ANOVA. Results : The results were as follows: 1. Range of duration of post-rotatory nyatagmus test in normal children was $5{\sim}22$second on left and $7{\sim}21$ second on right and the mean was 12.63 second on left and 12.59 second on right. 2. Range of duration of post-rotatory nystagmus test in children with the pervasive developmental disorder was $3{\sim}11$ second on both and the mean was 5.65 second on left and 5.60 second on right. 3. There was no significant difference between males and females with normal children in duration of post-rotatory nystagmus test. However, there was a significant difference of the mean duration between 3 and 5 years old normal group. 4. Children with pervasive developmental disorder significantly have relatively lower duration than the duration of post-rotatory nystagmus test of normal children. Conclusions : The results of the study showed significant difference between normal children and children with pervasive developmental disorder in duration of post-rotatory nystagmus test and suggest that they could be applied to the baseline of clinical therapy.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.7 no.2
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• pp.258-266
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• 1996

Self-injurious behaviors are commoly founded in the case of the developmentally impaired, such as mental retardation and autistic disorder. These behaviors are primary serious sources of distress for both child and their parents, another obstacle to overcome within the family and society. The author has a case that a child, had never before shown self-injurious behaviors. He abruptly started to injury his face and heel. The beginnings of these harmful behaviors are associated with symptoms of physical illness, such as fever, chills and general aches. The self-injured wounds were very severe. After the patient was treated with haloperidol and improved his physical conditions, self-injurious behaviors disappeared. The author reports the child's clinical process, characteristics of self-injurious behaviors, and discuss the treatment factors, along with a literature review.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.2 no.1
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• pp.87-96
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• 1991

A double bhad, placebo controlled study was performed to evaluate the therapeutic effects of Carbamazepine in autistic children, 23 boys with the diagnosis of Pervasive Developmental Disorders according to the DSM-IIIR were selected for study subjects, from Child and Adolescent Psychiatric Outpatient Department of Seoul National University Children Hospital during Oct. $1989{\sim}Nov.$ 1991. Subjects with histories of medical disease or psychiatric diseases were excluded and all study subjects had drug free periods more than 2 Months. Study subjects were randomly assigned to Cabamazepine treatment group(N=12) and placebo group(N=11). After the baseline observation periods, the double blind drug treatment and observation were performed for 12 weeks. Several scales (Ritvo-Freedman Real Life atring Scale. Behavior Checklist) were employed to evaluate the effects of drug treatment during baseline observation periods and the drug treatment periods by two raters blind to the study. Interrater reliability of each scales were .4875~.6613, the socrodemographic variables and the rating scores during baseline observation periods were not significantly different between two groups. Reduction of total scores in Autsm Behavior Checklist scale, i.e.. improvement of global autistic symptoms were noted significantly in Carbamazepine treatment group. Improvement in significant social maturations according to Vineland Social Mataration scale were observed in both patient groups after drug treetment periods.

• The Korean Journal of Petroleum Geology
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• v.5 no.1_2 s.6
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• pp.1-8
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• 1997

Seismic stratigraphic analysis of the high resolution profiles obtained from the southeastern shelf of Korea divided the deposits into 4 sequences; 1) sequence D, 2) sequence C, 3) sequence B and 4) sequence A (Holocene sediments). Sequence D was deposited in shallow-water environment at west of the Yangsan Fault as the basin subsided. On the other hand, the eastern part was formed at the slope front. Landward part of the slope-front fill sediments were eroded and redeposited nearby slope due to the syndepositional tilting of the basin. This tilting probably resulted from the continuous closing of the Ulleung Basin. Sequence C is made of stacked successions of the lowstand fluvial sediments, transgressive sediments and marine highstand sediments derived from the paleo-river in the western part of the Yangsan Fault. Sequence C in the eastern part of the Yanshan Fault was formed at the shelf break. Progradation of the lowstand sediments resulted in broadening of the shelf. Sequence C in the eastern part was also tilted but the tilting was weaker than in Sequence D. During the formation of sequence B the tilting stopped and the point source instead of the line source started in both sides of the Yangsan Fault. Sequence B was composed of the highstand systems tract partially preserved around the Yokji island, lowstand systems tract mainly preserved in the Korea Trough and transgressive systems tract. After the stop of the tilting, the force of compression due to the closing of the Ulleung Basin may be released by the strike-slip faults instead of tilting.

• Journal of Life Science
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• v.28 no.5
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• pp.597-604
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• 2018

Although the core mechanisms of Attention Deficit/Hyperactivity Disorder (ADHD) are unknown, several ADHD-associated proteins have been studied. G-protein - coupled receptor kinase interacting protein-1 (GIT1) is a multifunctional adapter protein that affects neuron growth and dendrite formation. GIT1-deficient mice have shown ADHD-like behavior and also recovered through amphetamine treatment. In this study, gliotransmitters were investigated in both intracellular and extracellular space from GIT1-deficient mice. To measure the amount of gliotransmitters, primary astrocyte cultures were taken from the cerebral and cerebellar cortices of wild (WT), hetero (HE), and knock-out (KO) mice. Major gliotransmitters were analyzed using high-performance liquid chromatography. It was observed that the amount of excitatory and inhibitory gliotransmitters were dependent on genotype and showed a change in excitation/inhibition ratios. Interestingly, the major excitatory gliotransmitter, glutamate, existed at the lowest level in WT mice, but the amount of inhibitory gliotransmitters, gamma-aminobutyric acid (GABA) and glycine, varied depending on brain region. Remarkably, an increased amount of GABA was measured at the intracellular cerebrum in WT mice compared with KO mice. It was presumed that KO mice would secrete more inhibitory gliotransmitters to compensate for GIT1 depletion or else acquire a defect to reuptake-secreted GABA. This may be a possible mechanism for ADHD pathology.

• Therapeutic Science for Rehabilitation
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• v.10 no.2
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• pp.37-51
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• 2021

Objective : The purpose of this study was to analyze non-invasive treatments and drooling assessment methods in children with cerebral palsy and developmental disabilities, who drool. Methods : This study searched two hundred papers published in 2005-2019. Forty-four papers were selected based on their abstract and title, and ten papers were finally selected following a secondary search. Results : The PEDro Scale of the selected papers was high with an average of seven points. As a result of analyzing the overall trends, the study participants were primarily patients with cerebral palsy, and recently, the therapeutic intervention of oral sensory exercise was more actively studied than behavioral modification. Studies of behavioral modification and oral sensory exercise intervention methods were found to have differences in participant age and, cognitive level, number of participants, research design, treatment time, and duration. Studies to confirming the frequency and severity of the drooling measurement method were found to be the main factor. Conclusion : This study analyzed typical behavioral modification and oral sensory exercise interventions as examples of non-invasive therapeutic interventions for children with cerebral palsy and developmental disabilities and provided information to help select appropriate therapeutic intervention methods when planning non-invasive therapy using behavioral modification and oral sensory exercise therapy.

• Journal of the korean academy of Pediatric Dentistry
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• v.24 no.2
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• pp.352-360
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• 1997

It has been reported that There is a relatively high incidence of congenital cleft lip and palate among congenital anomalies. Children with the cleft lip and palate confront various problems ranging from feeding difficulties as infants to frequent ear infections, compromised speech, aberrant dentofacial development, malocclusion and esthetic impairment with its unfavorable effects on the psychosocial adaptation of the individual. Management of these patients is a process that starts in infancy and continues on into adulthood. Through a team approach, professionals from various fields convene to assess the needs of the child and to assist the parents in dealing with the situation. A pediatric dentist, one of the team, must advise the parents the way of feeding or make an obturator for normal feeding and weight gain of infants with cleft lip and/or palate. An obturator can aid nursing, stimulate orofacial development, help develop the palatal shelves, prevent tongue distortions, prevent nasal septum irritation, decrease chance of ear infections, expand collaped maxillary segments, constrict the expanded anterior part of the maxilla, reposition the premaxilla, and help the parents psychologically. Three cases of infants with cleft lip and palate were managed with the obturator at the Dept. of Pediatric Dentistry, Kyung Hee University. In all cases, infants showed normal feeding and weight gaining after the insertion of the obturator.