• Korean Journal of Biological Psychiatry
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• v.14 no.3
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• pp.167-176
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• 2007

Objectives:A considerable number of pharmacogenetic studies have been performed in recent years to define the association of antipsychotic drug response with dopamine receptor polymorphisms. The purpose of this study was to investigate the relationship between the therapeutic response to antipsychotic drugs and the polymorphisms of the dopamine D2, D3, and D4 receptor genes(DRD2, DRD3 and DRD4, respectively). Methods:We conducted retrospective chart review of 200 consecutively hospitalized patients with the diagnosis of schizophrenia(DSM-IV) who were treated with various antipsychotics(94% atypical antipsychotics) at Bugok National Hospital, Korea. The patients were divided into two groups, responders and non-responders, by responsiveness to antipsychotic drugs according to a four-point scale used in previous studies; responders included moderate to marked responded patients and non-responders included none to minimal responded patients. We analyzed the Ser311Cys polymorphism in the DRD2, the Ser9Gly polymorphism in the DRD3, and the exon III 48 bp repeat polymorphism in the DRD4. Results:Among the total patients of 200, 141(70.5%) were categorized as responders. There were no significant differences in the frequencies of the DRD2, DRD3, and DRD4 alleles and genotypes between responders and non-responders. Conclusion:These results suggest that the Ser311Cys polymorphism in the DRD2, the Ser9Gly polym- orphism in the DRD3, and the exon III 48bp repeat polymorphism in the DRD4 are not associated with the therapeutic response to antipsychotic drugs in Korean schizophrenic patients. A larger prospective study is needed to elucidate the association between antipsychotic response and dopamine receptor gene polymorphism.

• Journal of the korean academy of Pediatric Dentistry
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• v.49 no.2
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• pp.234-240
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• 2022

Floating-Harbor syndrome (FHS) is a rare genetic disorder. This report introduced in a patient with FHS. Distinctive facial characteristics, severe skeletal class 3 malocclusion with underdeveloped maxilla and protruded mandible, congenital missing teeth, microdontia and ectopic positions of maxillary teeth were presented in the patient. In his twin sister, mild skeletal class 3 malocclusion with protruded mandible was observed but congenital missing teeth and microdontia were not observed. High-arched palate, narrow V-shaped maxillary arch compared to wide and ovoid mandibular arch and inverse relationship between the maxillary and mandibular intermolar width resulted in posterior crossbite were confirmed by model analysis of the patient. These were not observed in the twins. Behaviorally, poor cooperation during dental treatment because of mental retardation was observed in the patient.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.133-141
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• 2007

Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

• Sijohaknonchong
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• v.22
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• pp.143-171
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• 2005

Sip and Byul-Gok (New tunes), as folks musics, are musical concepts opposite to that of the Court musics. They have the tunes. typical and universal. and Byul-Gok for singing. has the words in which the properties of melodies in the structures of compositions are reflected harmoniously. The Song. or Shiga. in Koryo-Sa, History of Koryo. Acjee and Acjanggasa. named ByulGok. is divided into two types. according to the characteries of the forms.: Koryo Sokyo. or the folk songs in Koryo. such as Chengsanbylulgok. and Segyoungbyulgok. and Kyonggichega, or nobility songs in Koryo and Chosen Dynasty. such as Hallimbyulgok. Kwandongbyulgok. and Jucgyebyulgok. In addition. Gasa. or the nobility and folk songs in Chosen Dynasty. such as K wandongbyulgok. also has the title. Byul-Gok. Even though these types of the songs have the same tittle. Byul-Gok, it is not appropriate that Byul-Gok is used as a term described as a branch of the literature: in light of music. they have the properties in common in the sense that they are opposite to the Court music. but. in light of literature. their forms are very different from one another. Therefore, it is appropriate that they are classified according to the characteristics of the forms, winters, the ideology of people who enjoy them, and periods: Sokyo, Kyonggichega, and Gasa. Byul-gok means not only the folks songs opposite to the court musics, but also the songs by setting words to the melodies present. Orignal tunes and their new tunes are not different musical compositions, but the same ones with the melodies which Korean acquired transcendentally. It is general tendency, at those times, that after compositions were made, words are set to them. Such words represent the politic thought in which courtesy and music are considered important. and the spirit with which the ruler and the people enjoy together.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.1
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• pp.166-170
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• 2001

Rubinstein-Tabyi syndrome(RTS) is a congenital multisystem dysmorphic syndrome with many non-specific features, making diagnosis occasionally difficult. The major features of this syndrome include mental retardation, characteristic facial appearance, short stature, microcephaly, and broad thumbs and halluces. This syndrome was first described by Rubinstein and Tabyi in 1963, and many studies have been continued about this syndrome, but specific pathogenesis of the Rubinstein-Tabyi syndrome phenotype is still not clear. High arched palate, micrognathia and multiple caries etc have been reported in Rubinstein-Tabyi syndrome. In this report, a 6-year and 5-month-old boy visited at our department due to multiple dental caries, who showed broad thumbs, mental and physical development retardation, and characteristic facial appearance including both ptosis and ear deformity. This patient was diagnosed as a Rubinstein-Tabyi syndrome, and treated the multiple dental caries under general anesthesia. This study was aimed to observe the relationship between medical and dental characteristics.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.24 no.1
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• pp.21-27
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• 2013

Objectives : Dysregulation of the central noradrenergic system may be involved in the pathophysiology of attention-deficit hyperactivity disorder (ADHD). The aim of this study was to examine the differences in pre- and post-treatment cerebral perfusion according to the MspI polymorphisms of the alpha-2A-adrenergic receptor gene (ADRA2A) in children with ADHD. Methods : Thirty seven drug-naive ADHD children (8.9+1.8 years old, M=32, F=5) were genotyped. Baseline single-photon emission computed tomography (SPECT) and clinical assessments were performed for ADHD children. After treatment with methylphenidate for eight weeks, SPECT and clinical assessment were repeated. Results : No differences in baseline clinical assessments or cerebral perfusion were observed according to the MspI genotype. However, after treatment, ADHD children with the G/G genotype at the MspI polymorphism showed hyperperfusion in the right cerebellar declive (p=.001, uncorrected) and hypoperfusion in the left lentiform nucleus and left cingulate gyrus (p<.001 and p=.001, uncorrected), compared to children without the G/G genotype. Conclusion : Although the results of this study should be interpreted cautiously, they suggest a possible role of the MspI polymorphisms of the ADRA2A gene in methylphenidate-induced changes in cerebral perfusion.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.2
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• pp.351-356
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• 2008

Cerebral palsy, a range of non-progressive syndromes of posture and motor impairment, is a common cause of disability in childhood. Self-injurious behavior(SIB) is deliberate harm to the body without suicidal intend, often involving repetitive actions that cause tissue damage. One of the most common orofacial self-injurious behavior is chewing tongue, lip or oral mucosa. This kind of SIB in children is not common in normal children. High occurrence rates are observered in cases of syndromatic, mentally retarded children, and children with congenital disease. Various methods such as behavior modification, behavior control by drugs, body restraints, application of dental appliance, surgery and extraction of teeth have been suggested to control those self-injurious behavior. Using mouthguard as one of dental applainaces is the most conservative and appropriate method in terms of reducing oral self-injurious habits and protection of tissue. This case report describes a child with cerebral palsy who presented with self-injurious ulceration of lip and buccal mucosa. A modified mouthguard was effective in preventing self-injurious oral trauma in a child with cerebral palsy.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.510-514
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• 2003

The Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by dental and ocular abnormalities. The essential ocular features include partial or complete bilateral hypoplasia of the iris stroma, abnormalities of the angle structures with congenital iris adhesions, and anterior displacement of Schwalbe's corpuscles. Common oral findings are hypodontia(especially in anterior maxillary segment), microdontia, misshaped teeth, delayed eruption of the teeth. Additionally, other systemic symptoms can be seen and early detection by the pedodontist through dental diagnosis should prevent visual impairment.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.11 no.6
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• pp.2072-2077
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• 2010

This study is focused on the effects of elder's blood type on determining awareness and emotional character of the elderly, by comparing each individual's brain wave. Observed records are from thoes elder's who volunteered for KRIJUS( Korea Research Institute of Jungshin Science)'s brain wave measurement from September 2008 to June 2009. The whole 762 elder group consists of 311 female and 451 male. Blood types are A>B>O>AB dominately ordered. The result shown no relations between the blood types and their emotional character among elderly female, while elderly men shown meaningful difference; type B and O had higher rate on negative aspects. When it comes to awareness categories, both emotional(p=.001) and active(right)(p=.040) index shown meaningful differences. Type A had highest rate on emotional index and AB had it on active index. This study revealed meaningful relation between blood types and emotional character among several categories, while suggesting follow-up researches figuring out more detailed explanations for its effect and genetic role.

• Journal of the Society of Cosmetic Scientists of Korea
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• v.29 no.2 s.43
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• pp.1-35
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• 2003

새 천년으로 들어선 2000년도부터 우리나라의 65세 이상 노령인구는 $7.1{\%}$를 차지하게 되어 본격적인 노령화사회 (UN에서 65세 이상인구가 총 인구의 $7{\%}$ 이상일 경우 노령화 사회로 정의)로 진입하였다. 평균수명의 계속적인 증가에 따라 노인 인구는 급격히 늘어날 전망이며, 따라서 노인성 질환의 발생도 늘어나게 되어 가정 또는 사회가 떠 맡아야할 경제적, 정신적 부담은 더욱 증가하게 된다. 건강하고 행복한 인생의 황혼기를 보내는 것은 인간의 권리이며 누구나 바라는 소망이다. 피부의 노화현상은 심장질환, 암 등에 못지 않게 중요하며, 노인의 경제적, 사회적 활동을 심각하게 위축시키고 있다. 피부노화를 예방하고 노인성 피부질환을 치료할 수 있는 방법을 개발함으로써 노인의 경제, 사회활동을 활동적으로 유지시킬 수 있다. 피부노화는 크게 두 종류로 나눌 수 있다. 그 한가지는 내인성노화(intrinsic aging)로서 세월이 흘러감에 따라 피할 수 없는 노화 현상을 말한다. 두번째는 광노화 (photoaging)로서 오랫동안 햇빛에 노출된 얼굴, 손등, 목뒤 등의 피부에서 관찰되는 노화현상을 말하는 것으로 내인성노화 현상과 자외선에 의한 영향이 합쳐진 결과로 발생한다. 광노화 현상은 자외선의 노출을 피하면 예방할 수 있는 피부노화 현상이다. 내인성 노화는 햇빛에 노출되지 않은 피부에서 주로 관찰된다. 임상적 특징은 비교적 경미하며, 잔주름, 피부건조증, 탄력감소 등을 들 수 있다. 그러나 광노화의 임상적 특징은 내인성 노화에 비하여 심하고, 일찍부터 관찰된다. 내인성 노화에 비하여 굵고 깊은 주름이 발생하며, 잔주름도 많이 발생한다. 햇빛에 노출된 피부에 불규칙한 색소침착이 발생하며 일광흑자 (solar lentigo) 등의 색소질환이 증가한다. 피부가 매우 거칠고, 건조해지며, 탄력성이 감소하여 심한경우 피부가 처지게 된다. 피부노화의 대표적인 증상은 주름살이며, 아직까지 그 발생기전에 대하여는 여러 가지 학설이 있으나 정확히 알려져 있지 않다. 피부에 존재하는 교원질, 탄력섬유등 기질단백질의 손상이 피부 주름살의 주 원인으로 알려져 있다. 또한 얼굴에 존재하는 근육의 분포와 움직임, 유전적 소인, 자외선, 흡연, 폐경, 산화적 손상, 열 등 여러 원인이 복합적으로 작용할 것으로 생각된다. 피부주름살의 원인을 밝히고, 원인인자가 피부주름살을 초래하는 분자생물학적 기전을 이해함으로써 주름살을 예방하고 치료할 수 있는 새로운 방법을 개발할 수 있다.