• Journal of Genetic Medicine
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• v.20 no.2
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• pp.46-51
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• 2023

Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.1-5
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• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.15-20
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• 2023

Galactosemia is an inborn error disorder of carbohydrate metabolism, caused by metabolic disturbances at various stages of the Leloir pathway. In patients with galactosemia, accurate diagnosis and appropriate care are essential to avoid complications and unnecessary treatments. And a careful differential diagnosis of the type of galactosemia is crucial. Even with an appropriate galactose-restricted diet, long-term complications may occur, especially in patients with classic galactosemia. So new treatment options are being developed. In this review, we will review the new symptoms of each subtype that have been reported recently and GALM (Galactose mutarotase) deficiency, a new form of galactosemia, and treatment policies according to recent guidelines.

• Journal of Korean Medical classics
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• v.12 no.1
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• pp.197-224
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• 1999

The conception of 'earth(土)' belonging to the five evolutive phases(五行) is cognized that it is not partial to any side differing from other four phases and it can control other four phases so, it is the first gate to enter the process of changes. In the five organs(五臟), the spleen come under the earth phases and it have been very importantly considered for past to now in oriental medical history, for example by Li Dongyuan(李東垣). In this study, the results are summarized as the followings. 1. The term of the acquired constitution(後天) made by So-ong(邵雍), a scholar in the north so-dynasty, is used in the study of the book of changes(易經). And he said "The inborn constitution(先天) is the law of the nature itself and, the acquired constitution(後天) is the law of making the changes with the nature." In the myung-dynasty Li jungjae(李仲梓) made extract from this remarks 10 define that the spleen is the basis of the acquired constitution. So it considered that the the idea of changes(易) had an effect on the oriental medicine. 2. The one element of five phases, earth is the center of the changes and it composes the power of life with the sangsu(生數)-1, 2, 3, 4, and the sungsu(成數)-6, 7, 8, 9. In this process, the earth is the basis of the changes of the five phases. At the same time the spleen carry out the important physiological role in the humanbody controlling the other four organs. 3. In the change of the universe, the repetitionary movement of Yin(陰) and yang(陽) is the action of earth and it means illimitable division. In the course of this division all things change to new phases for example, the food changes 10 the ki(氣) through the action of spleen and stomach. So the organ of spleen and stomach is the space that the action of change occur. 4. Consequently the conception of bi(脾) is close to the pancreas that the spleen. And the duodenum is close to the conception of stomach because the space is the site of mito(未土). 5. The action of yin and yang in the ancient taegukdo(太極圖) is close 10 the connection of N-pole and S-pole. In the humanbody the two power is compared to the action of spleen and kidney, that means expansion and contraction. Also it means the inborn constitution and the acquired constitution so, it applyed to the all things in the universe.

• 한국사회복지학회:학술대회논문집
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• 2004.04a
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• pp.757-779
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• 2004

The purpose of study is to provide efficient initial approaches for counseling in social work practice settings. First, it attempts to identify the correlation between the Myers-Brigg's Type Indicator(MBTI), a personality index based on the theory of psychological typology, and Personality Adaptation Types(PAT) models. Second, it attempts to develop a counseling method which can be applied to the initial interview, using the paradigm of door to therapy such as "Open Door", "Target Door", and "Trap Door" based on the PAT theory. The result of the quantitative study showed the correlation between MBTI and PAT as follows: MBTI Extrovert and Feeling(E, F) type was statistically correlated to hysterical PAT. MBTI Extrovert, Intuition and Perceiving(E, N, P) type was statistically correlated to Obsessive-Compulsive PAT. In conclusion, this study finds that when a clinical social worker approaches a client with the client's MBTI personality type and an interventional personality adaptation theory approach such as "Open Door", "Target Door", or "Trap Door", the efficiency of communication is increased significantly.

• Korean Journal of Biological Psychiatry
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• v.3 no.2
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• pp.139-148
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• 1996

In recent year, problems caused by the abuse of drugs hove been analyzed in many cases, especially women's pregnancy. The purchasing of drugs without prescription, the misunderstanding of symptoms of pregnancy(such os vomiting, headache) os other ilnnesses, taking medicine during the pregnancy because of a chronic disease has caused many unfortunate cases Apart from these cases, pregnant women may take several medicines such as anodyne, tranquilizers, hypnotics, and diuretics which also cause critical situations. According to Piper and his colleagues 1987 study, in overage, pregnant women in the United Slates intake 3.1 kinds of additional dregs other than prenatal vitamins and mineral supplements. In those cases, both pregnant women and physicians anticipate inborn deformity. Most drugs which have whole body effects get to the unborn child via the placenta, however, many of these drugs do not have adverse effects(Shepard 1986, 1989). In general, drugs present a stronger effect to unborn children than they do to pregnant women due to the baby's excretion and to the drug metabolism that occurs in the mother's body through the placenta. The effects of dregs on unborn children show different results. depending upon the type of drug, dosage, characteristics. gestational weeks, genetic characteristics of the mother an baby, and many other environmental factors.

• Korean Institute of Interior Design Journal
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• v.14 no.2 s.49
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• pp.83-94
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• 2005

20th century was the age of Modernism which was based on rational side of human mind. However, with the fall of Modernism, also came the fall of rationalism's dictatorship. Now, we see the pursuit and quest of irrational thinking as a new possibility of human expression which actually was already begun by Dada and Surrealism in early 20th century. It was facilitated by re-evaluation of Freud's psychoanalytic theory at the end of 20th century. This paper researches psychoanalytic approach applied to the analyses of unconscious human desires in art and design, especially its application to contemporary space design. These designs represent, without making any ethical evaluation, the fact that those unconscious desires are part of inborn human nature and the fact that 21st century is heading toward open society which embraces diverse values and possibilities. By analyzing irrational tendencies in contemporary space designs, this paper aims at proving the meaning and value for one of new directions in 21st century space design. First chapter is an introduction. Second chapter studies Freud's psychoanalytic theory. Third chapter examines the psychoanalytic methodologies with which unconscious desires are expressed in art and design. Fourth chapter classifies the types of subconscious desires expressed in contemporary space designs and analyzes their case studies. Fifth chapter is the conclusion.

• The Journal of Korean Medicine
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• v.29 no.2
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• pp.21-31
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• 2008

Backgrounds: Singihwan is used "to strengthen inborn energy" and we suspected a protective effect on brain neuron cells. Objectives: The aim of this study was to evaluate the effects of Singihwan (SGH) on traumatic brain injury-induced delayed apoptosis in rat hippocampal dentate gyrus. Methods: For a surgical induction of traumatic brain injury (TBI), a 5 mm diameter stainless rod was used to make traumatic attack from the surface of the brain used by an impactor. The protective effect of the aqueous extract of SGH against TBI in the rat hippocampal dentate gyrus was investigated by using step-down avoidance task, terminal deoxynucleotidyl transferase (TdT)-mediated dUTP nick end labeling (TUNEL) assay, Bax immunohistochemistry, and 5-bromo-2'-deoxyuridine (BrdU) immunohistochemistry. Results: The aqueous extract of SGH suppressed the TBI-induced increase in apoptosis and cell proliferation in the hippocampal dentate gyrus. Conclusions: It is possible that the aqueous extract of SGH has a neuroprotective effect on TBI-induced neuronal cell death.

• Clinical and Experimental Pediatrics
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• v.49 no.11
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• pp.1140-1151
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• 2006

Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 500 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that require immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for confirmatory diagnosis of each disease, which challenge to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

• Phonetics and Speech Sciences
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• v.5 no.3
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• pp.55-60
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• 2013

The purpose of this study was to investigate the acoustic characteristics of crying infants according to the communication intents such as hunger and pain in terms of acoustic differences in the fundamental frequency ($F_0$), jitter, shimmer, noise-to-harmonic ratio(NHR), habitual pitch, and intensity. The subjects were 20 healthy, normal infants, less than seven days old, from the city of Seoul and were born after 38 to 42 weeks(full term) of pregnancy. The sound of crying was recorded for three minutes. The crying due to pain was induced by means of the inborn metabolism error test, whereas the crying due to hunger was verified by means of the rooting reflex by waiting for the designated eating time. The results were as follows: (1) the fundamental frequency, noise-to-harmonic ratio(NHR), and intensity of the infants' crying due to pain was higher than that by hunger, showing a significant difference between the mean values. (2) the infants' crying due to hunger and that by pain did not have a significant difference in the mean jitter and shimmer values but both of them were largely outside of the normal threshold values(jitter by 1.04% and shimmer by 3.81%). This study was significant in the sense that it showed the acoustic characteristics of infants' crying from hunger and pain were very different from each other according to the communication intents in terms of the six acoustic parameters.