• 대한유전성대사질환학회지
• /
• 제15권2호
• /
• pp.78-86
• /
• 2015

목적: 호모시스틴뇨증은 cystathionine ${\beta}$-synthase의 결핍으로 유발되는 질환이다. 본원에서 치료받고 있는 총 6명 환자들의 임상양상과 유전자 분석을 시행하였다. 방법: 1992년 1월부터 2015년 3월까지 본원에서 전형적 호모시스틴뇨증으로 진단되어 치료 중인 총 6명의 환자들을 대상으로 후향적으로 임상적, 생화학적, 유전자적 분석을 하였다. 결과: 총 6명의 환자가 본 연구에 포함되었으며 이 중 3명은 영아기에 발견되었고, 나머지 3명은 7세 이후에 진단되었다. 영아기에 진단되어 치료를 받은 환자들은 정상 인지기능을 보였고, 7세 이후에 진단된 환자들은 다양한 정도의 지적 장애가 있었다. 골감소증이 6명 중 2명의 환자에서 발견되었다. 혈전 색전증이나 경련, 수정체 탈구 같은 주요한 합병증은 7세 이후에 진단된 군에만 있었다. 유전자 검사에서 모두 cystathionine ${\beta}$-synthase 유전자의 돌연변이를 확인하였다. 본 연구에 포함된 6명은 현재 메티오닌 제한 식이를 하면서 엽산과 베타인, 비타민 B6, 메틸코발라민을 복용 중이다. 결론: 6명의 전형적 호모시스틴뇨증 환자들을 길게는 23년 동안 추적 관찰하였다. 신생아 대사 이상 검사에서 발견된 환자들은 합병증 없이 성장하고 있으나, 7세 이후에 진단된 환자들은 100% 수정체 탈구가 있었고 각종 합병증이 동반되었다. 따라서 전형적 호모시스틴뇨증의 예후에는 무엇보다 조기 진단이 중요하며 이는 현재 국내에서 시행되는 신생아 대사 이상 검사의 중요성을 설명하는 것이라 하겠다.

• 한국발생생물학회지:발생과생식
• /
• 제13권4호
• /
• pp.217-226
• /
• 2009

본 연구는 내분비 장애물질의 검출을 위하여 간세포의 단층 형성, 생존 및 기능에 미치는 어류 혈청의 영향에 대해 검토하였다. 한국산 메기의 간세포는 자신의 혈청 및 뱀장어, 틸라피아 등 타어종의 혈청에 의해 부착 및 단층이 형성되었으나, FBS는 메기 간세포의 단층을 형성시키지 못했다. 0.5에서 3%의 어류 혈청으로 메기 간세포의 단층을 형성 시킬 수 있는데, 이것은 FBS(5~20%) 사용의 1/10 이하로 적은 양이며, 어류 혈청이 FBS를 대체할 수 있고, FBS보다 간세포의 형태 및 기능 유지에 효과적인 것으로 나타났다. 어류 혈청이 첨가된 배양액에서 메기 간세포는 적어도 10일 이상 단층 형성을 유지할 수 있어, 내분비 장애물질 연구에 이용될 수 있을 것이다. 결론적으로 본 연구에서 개발된 어류 혈청을 사용한 메기 간세포 배양시스템과 효소면역측정법(ELISA)은 bisphenol A 등의 내분비 장애물질의 검출 및 연구를 위한 유용한 도구로서 이용될 수 있다고 생각된다.

• 재활간호학회지
• /
• 제12권1호
• /
• pp.39-46
• /
• 2009

Purpose: The purpose of this study was to identify the level of burden and social support of mothers with Cerebral Palsy (CP) children, and to determine whether providing social support is an effective strategy to relieve the burden of those mothers. Method: From October to November 2007, the data were collected from 63 mothers with CP children who were admitted and treated for CP at Y rehabilitation center in Seoul. The data were analyzed with t-test, ANOVA, Scheffe's test, Pearson's Correlation Coefficient, and Stepwise Multiple Regression using SPSS 12.0. Results: Burden of mothers was related to the Gross Motor Function Classification System (GMFCS) of the CP children. Social support was negatively correlated and GMFCS was positively correlated with burden of mothers. Social support and GMFCS was statistically significantly related with burden of mothers with CP children by multiple regression analysis. Conclusion: There was a significantly negative correlation between social support and burden. It demonstrated that social support, an important factor relating to burden imposed on mothers of CP children, can be considered as an intervening variable which can contribute to decrease of burden. In addition, applying developmental screening measures are needed to decrease disability severity.

• The Korean Journal of Physiology and Pharmacology
• /
• 제1권2호
• /
• pp.117-125
• /
• 1997

The N-methyl-D-aspartate (NMDA) receptor-mediated glutamatergic neurotransmission is involved in synaptic plasticity, developmental processes, learning and memory and many neuropathological disorders including age-related diseases. In the present study, regulation of the NMDA receptor properties by various ligands was investigated using $[^3H]MK-801$ binding studies in the synaptic membranes of young and aged rat forebrains. The binding in the presence of glutamate and glycine increased dramatically with growth between 1 and 6 weeks old, and thereafter declined gradually with aging. Glutamate, glycine or spermine respectively increased the binding with growth. Glutamate maintained the binding during aging, while glycine or spermine significantly decreased the binding in the aged brain. The maximum stimulation by glycine varied depending on the ages of brains. Greater sensitivity to glycine was observed at 1 week and 3 months and the sensitivity was significantly reduced in the aged brain. In contrast, spermine showed similar stimulation patterns in young and aged rats. These results indicated that the functional properties of the NMDA receptor-ion channel complex in young and aged rat forebrains are differentially regulated by agonists, and the reduction of the receptor function with normal aging may be, in some degree, due to the reduction of the receptor sensitivity to glycine.

• Fisheries and Aquatic Sciences
• /
• 제12권4호
• /
• pp.286-292
• /
• 2009

We have constructed a cDNA library using brain samples of olive flounder Paralichthys olivaceus. Here, we described the study on gene identification by screening 356 clones from the brain cDNA library of olive flounder. Here, we screened 356 clones from the library to identify genes. Of these, 176 (49.5%) were identified as orthologs of known genes from olive flounder and other organisms. Among the 176 EST clones, 33 (18.7%) represented 11 unique genes that are identical to expressed sequence tags (ESTs) reported for olive flounder, and 120 (68.2%) represented 102 unique genes known from other organisms. The percentage of unknown genes (50.5%) is higher than in other olive flounder cDNA libraries (Lee et al., 2003, 2006, 2007), reflecting the high complexity of brain tissue. Further studies of expression characterization and developmental behavior related to these genes should provide useful insight into the physiological functions of the brain in olive flounder.

• Child Health Nursing Research
• /
• 제7권4호
• /
• pp.511-518
• /
• 2001

This study is to identify the characteristics of the growth and deveolpment, and to assess Obesity Index, BMI and Kaup Index of infants paticipated in a healthy breast-feeding contest. The subjects of this study were 94 breast- feeding infants, ages from 6 to 8 months. Their weight and height were measured and compared with Korean Standards. Their developmental state was tested by DDST(Denver Develop- mental Screening Test) standardized in Korea. The data were analyzed by using the SPSS-WIN 10.0. The result is as follows : 1. The weight of infants was more than Korean Standards, but the height was less. 2. There were statistically significant differences in Obesity Index, BMI and Kaup Index. Obese infants estimated by Obesity Index were about 10％, but by BMI and Kaup Index were 35.1％ and 27.7％. 3. Spearman's rhos of Obesity Index and Kaup Index, Obesity Index and BMI, and Kaup Index and BMI were individually 0.526, 0.528 and 0.753. In conclusion, BMI should be added to the criteria for assessing healthy breast-feeding infants.

• 근관절건강학회지
• /
• 제21권3호
• /
• pp.246-254
• /
• 2014

Purpose: This study aims to provide baseline data on children's health care and household safety management in one region and to support implementation of customized visiting health care services for children. Methods: 51 children and their caregivers from socially vulnerable group and 69 children and their caregivers from general group are selected as research participants. Data were collected through home visiting survey by 10 professional nurses. Results: Children from socially vulnerable group are at higher risks of poor health care and safety accidents in households than general group. Rates of taking developmental screening tests, medical check-up remain considerably low in vulnerable social group. Regarding home safety, vulnerable children are more likely to be exposed to unsafe conditions. Conclusion: These results indicate that in order to promote health care and safety conditions for vulnerable children, it is necessary to implement customized visiting health care programs which actually can reach vulnerable households and meet their demands. These findings can be used as baseline data to develop customized visiting health care programs for children.

• 대한통합의학회지
• /
• 제3권1호
• /
• pp.1-10
• /
• 2015

Purpose: This study investigated the relationships of handwriting legibility and perceptual-motor skills, and handwriting speed and perceptual-motor skills. And identified the predictors that most affect the handwriting of preschool children. Methods: Twenty-three typically developing preschool aged children (mean age: 68.61 months, SD=2.04) were selected through the Korean-Denver Developmental Screening Test-2(K-DDST-2). The children were tested with regard to handwriting legibility, visual perception, visual-motor integration and fine-motor coordination. Results: First, a significant relationship was not found among handwriting legibility, visual perception, visual-motor integration and fine-motor coordination. Second, a significant relationship was found among handwriting speed, visual perception and fine-motor coordination. Third, stepwise multiple regression analyses showed that general visual perception were significant predictors for handwriting speed. Conclusion: Occupational therapists should evaluate children's visual perception levels utilizing a standardized test, and focus on general visual perception in order to improve handwriting skill(speed). Also, occupational therapists are expected to play an important role in the management and treatment of children's handwriting skills.

• The Plant Pathology Journal
• /
• 제17권2호
• /
• pp.67-70
• /
• 2001

Medicago truncatula is a diploid legume plant related to the forage crop alfalfa. Recently, it has been chosen as a model species for genomic studies due to its small genome, self-fertility, short generation time, and high transformation efficiency. M. truncatula engages in symbiosis with nitrogen-fixing soil bacterium Rhizobium meliloti. M. truncatula mutants that are defective in nodulation and developmental processes have been generated. Some of these mutants exhibited altered phenotypes in symbiotic responses such as root hair deformation, expression of nodulin genes, and calcium spiking. Thus, the genes controlling these traits are likely to encode functions that are required for Nod-factor signal transduction pathways. To facilitate genome analysis and map-based cloning of symbiotic genes, a bacterial artificial chromosome library was constructed. An efficient polymerase chain reaction-based screening of the library was devised to fasten physical mapping of specific genomic regions. As a genomics approach, comparative mapping revealed high levels of macro- and microsynteny between M. truncatula and other legume genomes. Expressed sequence tags and microarray profiles reflecting the genetic and biochemical events associated with the development and environmental interactions of M. truncatula are assembled in the databases. Together, these genomics programs will help enrich our understanding of the legume biology.

• Clinical and Experimental Pediatrics
• /
• 제64권10호
• /
• pp.497-503
• /
• 2021

Reading disability (dyslexia) refers to an unexpected difficulty with reading for an individual who has the intelligence to be a much better reader. Dyslexia is most commonly caused by a difficulty in phonological processing (the appreciation of the individual sounds of spoken language), which affects the ability of an individual to speak, read, and spell. In this paper, I describe reading disabilities by focusing on their underlying neurobiological mechanisms. Neurobiological studies using functional brain imaging have uncovered the reading pathways, brain regions involved in reading, and neurobiological abnormalities of dyslexia. The reading pathway is in the order of visual analysis, letter recognition, word recognition, meaning (semantics), phonological processing, and speech production. According to functional neuroimaging studies, the important areas of the brain related to reading include the inferior frontal cortex (Broca's area), the midtemporal lobe region, the inferior parieto-temporal area, and the left occipitotemporal region (visual word form area). Interventions for dyslexia can affect reading ability by causing changes in brain function and structure. An accurate diagnosis and timely specialized intervention are important in children with dyslexia. In cases in which national infant development screening tests have been conducted, as in Korea, if language developmental delay and early predictors of dyslexia are detected, careful observation of the progression to dyslexia and early intervention should be made.