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A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene (7-dehydrocholesterol reductase (DHCR7) 변이로 진단된 Smith-Lemli-Opitz 증후군 1예)

  • Park, Mee Rim;Ko, Jung Min;Cheon, Chong-Keun;Kim, Gu-Hwan;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.51 no.11
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    • pp.1236-1240
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    • 2008
  • Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

A Reconstruction of Area Unit of Elementary Mathematics Textbook Based on Freudenthal's Mathematisation Theory (Freudenthal의 수학화 이론에 근거한 제 7차 초등수학 교과서 5-가 단계 넓이 단원의 재구성)

  • You, Mi-Hyun;Kang, Heung-Kyu
    • Journal of Elementary Mathematics Education in Korea
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    • v.13 no.1
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    • pp.115-140
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    • 2009
  • Freudenthal has advocated the mathematisation theory. Mathematisation is an activity which endow the reality with order, through organizing phenomena. According to mathematisation theory, the departure of children's learning of mathematics is not ready-made formal mathematics, but reality which contains mathematical germination. In the first place, children mathematise reality through informal method, secondly this resulting reality is mathematised by new tool. Through survey, it turns out that area unit of Korea's seventh elementary mathematics textbook is not correspond to mathematisation theory. In that textbook, the area formular is hastily presented without sufficient real context, and the relational understanding of area concept is overwhelmed by the practice of the area formular. In this thesis, first of all, I will reconstruct area unit of seventh elementary textbook according to Freudenthal's mathematisation theory. Next, I will perform teaching experiment which is ruled by new lesson design. Lastly, I analysed the effects of teaching experiment. Through this study, I obtained the following results and suggestions. First, the mathematisation was effective on the understanding of area concept. Secondly, in both experimental and comparative class, rich-insight children more successfully achieved than poor-insight ones in the task which asked testee comparison of area from a view of number of unit square. This result show the importance of insight in mathematics education. Thirdly, in the task which asked testee computing area of figures given on lattice, experimental class handled more diverse informal strategy than comparative class. Fourthly, both experimental and comparative class showed low achievement in the task which asked testee computing area of figures by the use of Cavalieri's principle. Fifthly, Experiment class successfully achieved in the area computing task which resulting value was fraction or decimal fraction. Presently, Korea's seventh elementary mathematics textbook is excluding the area computing task which resulting value is fraction or decimal fraction. By the aid of this research, I suggest that we might progressively consider the introduction that case. Sixthly, both experimental and comparative class easily understood the relation between area and perimeter of plane figures. This result show that area and perimeter concept are integratively lessoned.

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A Study on Construction of Multiplication Knowledge with Low Reasoning Ability (추론 능력이 열등한 초등학교 2학년 학생의 곱셈 지식 구성 능력에 관한 연구)

  • Lee, So-Min;Kim, Jin-Ho
    • Journal of the Korean School Mathematics Society
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    • v.12 no.1
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    • pp.47-70
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    • 2009
  • The purpose of this research was to confirm one of constructivists' assumptions that even children 조o are with low reasoning ability can make reflective abstracting ability and cognitive structures by this ability can make generation ability of new knowledge by themselves. To investigate the assumption, learner-centered instruction were implemented to 2nd grade classroom located in Suseong Gu, DaeGu City and with lesson plans which initially were developed by Burns and corrected by the researchers. Recordings videoed using 2 video cameras, observations, instructions, children's activity worksheets, instruction journals were analyzed using multiple tests for qualitative analysis. Some conclusions are drawn from the results. First, even children with low reasoning ability can construct mathematical knowledge on multiplication in their own. ways, Thus, teachers should not compel them to learn a learning lesson's goals which is demanded in traditional instruction, with having belief they have reasoning ability. Second, teachers need to have the perspectives of respects out of each child in their classroom and provide some materials which can provoke children's cognitive conflict and promote thinking with the recognition of effectiveness of learner-centered instruction. Third, students try to develop their ability of reflective and therefore establish cognitive structures such as webs, not isolated and fragmental ones.

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Designing a Model of Problem Posing focusing on the Analysis of Meaning (의미 분석을 강조한 문제설정 모형 설계하기)

  • Jun, Young Bae;Roh, Eun Hwan;Kim, Dae Eui;Kang, Jeong Gi
    • Journal of the Korean School Mathematics Society
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    • v.16 no.2
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    • pp.383-407
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    • 2013
  • As an alternative of making students active and independent under the passive learning conditions in school math classes, many researchers have paid much attention to problem posing and done a lot of research on it. Above all, Brown and Walter proposed What I f Not strategy as a means of problem posing. In this strategy, during the process of posing problems, the transformation of their attributes is inevitably made, and so after problem posing, the process is finished by explaining the problem. But only the simple transformation of attributes could pose wrong problems. It suggests that it is very important to recognize the relationship which leads to organic connection between attributes in order to pose the right problem. However, many other studies of problem posing haven't focused on this fact. Thus, this study tried to design a model of problem posing to help recognize inherent knowledge in the problem and then pose the right problem by adding an activity of meaning analysis. We concretely showed a model of problem posing emphasizing the analysis of meaning by means of an example, thereby examining the meaning of the model. This study expects students to have the chance to understand the true meaning of problem posing and to be active learners after all.

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A Survey of Elementary school teachers' perceptions of mathematics instruction (수학수업에 대한 초등교사의 인식 조사)

  • Kwon, Sungyong
    • Education of Primary School Mathematics
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    • v.20 no.4
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    • pp.253-266
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    • 2017
  • The purpose of the study was to investigate the perceptions of Elementary school teachers on mathematics instruction. To do this, 7 test items were developed to obtain data on teacher's perception of mathematics instruction and 73 teachers who take mathematical lesson analysis lectures were selected and conducted a survey. Since the data obtained are all qualitative data, they were analyzed through coding and similar responses were grouped into the same category. As a result of the survey, several facts were found as follow; First, When teachers thought about 'mathematics', the first words that come to mind were 'calculation', 'difficult', and 'logic'. It is necessary for the teacher to have positive thoughts on mathematics and mathematics learning, and this needs to be stressed enough in teacher education and teacher retraining. Second, the reason why mathematics is an important subject is 'because it is related to the real life', followed by 'because it gives rise to logical thinking ability' and 'because it gives rise to mathematical thinking ability'. These ideas are related to the cultivating mind value and the practical value of mathematics. In order for students to understand the various values of mathematics, teachers must understand the various values of mathematics. Third, the responses for reasons why elementary school students hate mathematics and are hard are because teachers demand 'thinking', 'because they repeat simple calculations', 'children hate complicated things', 'bother', 'Because mathematics itself is difficult', 'the level of curriculum and textbooks is high', and 'the amount of time and activity is too much'. These problems are likely to be improved by the implementation of revised 2015 national curriculum that emphasize core competence and process-based evaluation including mathematical processes. Fourth, the most common reason for failing elementary school mathematics instruction was 'because the process was difficult' and 'because of the results-based evaluation'. In addition, 'Results-oriented evaluation,' 'iterative calculation,' 'infused education,' 'failure to consider the level difference,' 'lack of conceptual and principle-centered education' were mentioned as a failure factor. Most of these factors can be changed by improving and changing teachers' teaching practice. Fifth, the responses for what does a desirable mathematics instruction look like are 'classroom related to real life', 'easy and fun mathematics lessons', 'class emphasizing understanding of principle', etc. Therefore, it is necessary to deeply deal with the related contents in the training courses for the improvement of the teachers' teaching practice, and it is necessary to support not only the one-time training but also the continuous professional development of teachers.

The Necessity of A Cognitive-scientific Analysis on A Security threat Act - The Foundation for A Establishment of The Scientific Preventive Social-security Countermeasure - (경호위해행위에 대한 인지과학적 분석의 필요성 고찰 - 과학적 예방적 사회안전 대책 수립을 위한 기초 -)

  • Kim, Doo-Hyun;Son, Ji-Young
    • Korean Security Journal
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    • no.17
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    • pp.33-51
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    • 2008
  • According to dictionary, the meaning of protection is "guard and protect" that means protecting the Protectee's safety in case of sudden attack or various accident and Security means all protecting activity including Protectee and place where he is in or will be as comprehensively meaning of safe. As you see in the definition, Protection and security is the act to protect or will to protect from a security-threat act. A security-threat act can be discussed in the range of the concept of a criminal act in Criminal Law. A security-threat act is based on criminal act in Criminal Law, we are going to review such a security-threat act in a point of view in a sphere of learning in today's remarkable a brain-neuro science and cognitive science based on cognitive psychology, and to use an analysis on such a security-threat act to make a foundation for a establishment of the scientific preventive social security countermeasure. To do so, First of all we are going to review a security-threat act based on criminal act in Criminal Law in a point of protection police logic view. Next, we are going to introduce how cognitive science understand about act of man before we analyse a threat act as one of an act of man in cognitive science point of view. Finally, we are going to discuss the need of cognitive scientific analyse in order to establish the Scientific Preventive Social-security Countermeasure at the same time we are going to analyse a threat act in a cognitive scientific view.

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Application of Mathematics PBL Model Courses in the Chapter of a Decimal for the 4th Grade of Elementary School Students (초등학교 4학년 소수단원에서의 수학과 PBL 모형 적용 수업 분석)

  • Kang, Mi-Ae;Song, Sang-Hun
    • School Mathematics
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    • v.13 no.1
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    • pp.189-206
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    • 2011
  • This study is to setup a mathematics PBL model that is right for elementary students. PBL models are developed and applied to actual courses and analyzed. So, a specific plan and practical understanding of PBL mathematics textbooks will be presented. But in order for this to happen, first the mathematics PBL model, that can realize 7th revised curriculum's goal, needs to setup and divided into knowledge, skill and attitude domains. Through this study, the general PBL model and the PBL model appropriate for elementary mathematics was amended and supplemented, this was then applied to courses and analyzed, and the below conclusions were realized. First, mathematical idealization stage is needed for mathematical PBL model. Since an elementary student is shortcoming in problem understanding and mathematical activity, a middle step that allows the student to understand the problem situation mathematizing and find a solution mathematically is desperately needed. Therefore, in this study, we named it the mathematical idealization stage and had it setup. Second, a mathematics information collection stage needs to be prepared for a successful PBL. Through this stage, the students will have an opportunity to gather the necessary information needed and restructure it to solve the problem. Third, the organization stage in mathematical PBL model needs to be strengthened. PBL is not just completed, through the best use of mathematics subject matter to solve the problem. Organization time is needed to allow the students to grow to a more deepened and advanced level. In conclusion, there is significance in providing a specific plan for mathematical PBL model, which can be seen through this study on applying and analyzing elementary mathematics and appropriate PBL models.

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Classification of Negative Emotions based on Arousal Score and Physiological Signals using Neural Network (신경망을 이용한 다중 심리-생체 정보 기반의 부정 감성 분류)

  • Kim, Ahyoung;Jang, Eun-Hye;Sohn, Jin-Hun
    • Science of Emotion and Sensibility
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    • v.21 no.1
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    • pp.177-186
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    • 2018
  • The mechanism of emotion is complex and influenced by a variety of factors, so that it is crucial to analyze emotion in broad and diversified perspectives. In this study, we classified neutral and negative emotions(sadness, fear, surprise) using arousal evaluation, which is one of the psychological evaluation scales, as well as physiological signals. We have not only revealed the difference between physiological signals coupled to the emotions, but also assessed how accurate these emotions can be classified by our emotional recognizer based on neural network algorithm. A total of 146 participants(mean age $20.1{\pm}4.0$, male 41%) were emotionally stimulated while their physiological signals of the electrocardiogram, blood flow, and dermal activity were recorded. In addition, the participants evaluated their psychological states on the emotional rating scale in response to the emotional stimuli. Heart rate(HR), standard deviation(SDNN), blood flow(BVP), pulse wave transmission time(PTT), skin conduction level(SCL) and skin conduction response(SCR) were calculated before and after the emotional stimulation. As a result, the difference between physiological responses was verified corresponding to the emotions, and the highest emotion classification performance of 86.9% was obtained using the combined analysis of arousal and physiological features. This study suggests that negative emotion can be categorized by psychological and physiological evaluation along with the application of machine learning algorithm, which can contribute to the science and technology of detecting human emotion.

The Effect of Characteristics of the Extended Science Investigations Tasks on Middle School Students' Motivation for Investigation (확장적 과학 탐구 과제의 특징이 중학생의 탐구 동기에 미치는 영향)

  • Yoon, Hye-Gyoung;Pak, Sung-Jae
    • Journal of The Korean Association For Science Education
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    • v.21 no.1
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    • pp.1-12
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    • 2001
  • The extended science investigations, comprehensive investigations contrasted with exercises of process skill components and cookbook style experiments, should be pursued for giving opportunity of more authentic science activity. The characteristics of the extended investigation tasks were emerged from critical argument on school practical work. And one of important educational objectives in students' investigations is to achieve motivation for investigation. The purpose of this study is to explore how the characteristics of the extended investigation tasks, that is practical context, openness and continuity, affect middle school students' motivation for investigation. On the basis of questionnaire results and students' school science achievement, ten students were interviewed to see the change of motivation for investigation and its causes while they perform two textbook investigations and four extended investigation tasks. Among the interviewees, the students who showed positive motivation for the extended investigations were critical about textbook experiments as they are just confirmations of theories and perceived practical context and openness as the main causes of their positive motivation. The students who showed negative motivation for extended investigations preferred textbook experiments as there was enough guidance from teacher and textbook-centered learning. They recognized the openness of the tasks as a main reason of their negative motivation for investigation. Some students showed negative responses about continuity of the extended investigation tasks but continuity was not recognized as a main cause for their motivation for investigation.

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Why Do Most Science Educators Encourage to Teach School Science through Lab-Based Instruction?: A Neurological Explanation (과학 교수.학습 과정에서 실험활동 중심 수업의 효율성에 대한 신경학적 설명)

  • Kwon, Yong-Ju;Lawson, Anton E.
    • Journal of The Korean Association For Science Education
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    • v.19 no.1
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    • pp.29-40
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    • 1999
  • The purpose of the present study was to test hypothesis that, because it uses tri-dimensional sensory pathway which have been showed a higher rate of neural activities than uni- or bi-dimensional's, lab-activity-based instruction is more effective teaching strategy in learning science than verbal-based instruction. In the present study, manipulative teaching strategy that uses visual, somatosensory and auditory information pathway was regarded as a mode of tri-dimensional sensory inputs. In addition, verbal teaching strategy that uses mainly auditory and a little visual information pathway was used as a mode of bi-dimensional sensory inputs. Fifty-six students who failed to successfully solve two proportional reasoning tasks (i.e., pouring water tasks) were sampled for this research from a junior high school. The subjects were randomly divided into a manipulative or a verbal teaching group, and given manipulative or verbal tutoring on the use of proportional reasoning strategies and a test of proportional reasoning during instruction. The results showed that manipulative group's performance on the test of proportional reasoning during instruction showed significantly higher performance than verbal group's (t=2.45, p<0.02). The present study also discussed some educational implications of the results.

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