• Title/Summary/Keyword: 영상 유전학적 연구

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Current Understanding in Neurobiology of Depressive Disorders : Imaging Genetic Studies on Serotonin Transporter (우울장애의 신경생물학적 최신 지견 : 세로토닌 전달체에 대한 영상 유전학적 연구를 중심으로)

  • Ham, Byung-Joo
    • Korean Journal of Biological Psychiatry
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    • v.18 no.4
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    • pp.176-180
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    • 2011
  • Depressive disorders have strong genetic components. However, conventional linkage and association studies have not yielded definitive results. These might be due to the absence of objective diagnostic tests, the complex nature of human behavior or the incomplete penetrance of psychiatric traits. Imaging genetics explores the influences of genetic variation on the brain function or structure. This technique could provide a more sensitive assessment than traditional behavioral measures in psychiatric studies. Imaging genetics is a relatively new field of psychiatric researches, and may improve our understanding on neurobiology of psychiatric disorders. In this review, current understanding in neurobiology of depressive disorders, especially imaging genetic studies on serotonin transporter will be discussed.

Development of On-line Portal Imaging System and its Linearity (온라인 방사선 치료 조사야 영상 시스템의 제작과 선형성 조사)

  • 김성환;김재철;박인규
    • Progress in Medical Physics
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    • v.8 no.2
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    • pp.77-85
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    • 1997
  • Verification of patients setup was very important during radiotherapy. Therefore, we have developed an 1-dimensional on-line portal imaging system and measured the differential linearity of the system. Isooctane(2,2,4-TetraMethyl Pentane) was used as liquid ionization material. And the geometry of the system was designed which has 2mm position resolution and 20cm measurable range. And then the differential linearity of the system was 4.7%.

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MRI Enhancement using Perovskite Material for B1 Field Control at 7T (7T MRI에서 B1 필드 조정을 위해 페로브스카이트 재료를 이용한 자기공명영상 향상)

  • Kim, Yong-Tae;Kim, Joo-Yeon;Baek, Hyeon-Man
    • Journal of the Korean Society of Radiology
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    • v.15 no.4
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    • pp.565-573
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    • 2021
  • The spatial distribution of electromagnetic fields in the human body can be adjusted by using high dielectric materials. This method has a complementary compared to other methods. However, it can be used as a powerful dielectric shimming tool in certain applications. It can be manufactured in a geometrically free shape and a pad manufactured according to the purpose can be applied without any change of the system. Especially in ultrahigh magnetic field (UHF) MRI, the clinical high dielectric pad used to increase the intensity of the transmit (B1+) and receive (B1-) fields, which has low sensitivity due to the high operating frequency, has great potential. In addition, there are few studies applied to UHF MRI. Therefore, in this study, a high dielectric material pad made of calcium titanate suspension was developed in the laboratory. And the signal increase of clinically useful images was confirmed in various protocols of UHF 7T MRI.

Current Applications and Future Perspectives of Brain Tumor Imaging (뇌종양 영상의 현재와 미래)

  • Ji Eun Park;Ho Sung Kim
    • Journal of the Korean Society of Radiology
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    • v.81 no.3
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    • pp.467-487
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    • 2020
  • Anatomical imaging is the basis of the diagnosis and treatment response assessment of brain tumors. Among the existing imaging techniques currently available in clinical practice, diffusion-weighted imaging and perfusion imaging provide additional information. Recently, with the increasing importance of evaluation of the genomic variation and heterogeneity of tumors, clinical application of imaging techniques using radiomics and deep learning is expected. In this review, we will describe recommendations for magnetic resonance imaging protocols focusing on anatomical images that are still important in the clinical application of brain tumor imaging, and the basic principles of diffusion-weighted imaging and perfusion imaging among the advanced imaging techniques, as well as their pathophysiological background and clinical application. Finally, we will review the future perspectives of radiomics and deep learning applications in brain tumor imaging, which have been studied to a great extent due to the development of computer technology.

CHILDHOOD ONSET SCHIZOPHRENIA IN DEVELOPMENTAL ASPECT (소아 정신분열병의 발달학적 측면)

  • Lee, Young-Sik
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.16 no.2
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    • pp.173-182
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    • 2005
  • This review is a clinical and research update of recent literature related to childhood onset schizophrenia (with an onset of psychosis by age 12). Childhood onset schizophrenia(COS) is a rare disorder, but that may represent a more homogeneous patient population in which to search for risk or etiologic factors of schizophrenia. These overview data show that COS shares the same clinical and neurobiological features as later onset forms of the disorder. Compared with later onset schizophrenia, however, this subgroup of patients appear to have more severe premorbid neurodevelopmental abnormalities, more cytogenic abnormalies, poor outcome, and potentially greater family histories of schizophrenia and associated spectrum disorders. Future studies of this subgroup may provide important clues as to the genetic basis for schizophrenia and how gene products influence certain feature of the disease, such as age of onset and mode of inheritance.

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TIC DISORDER AND OBSESSIVE COMPULSIVE DISORDER IN CHILDHOOD (틱 장애 및 소아기 발병 강박 장애)

  • Hong, Hyun-Ju;Song, Dong-Ho
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.16 no.2
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    • pp.183-191
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    • 2005
  • Tic disorder including Tourette's disorder is a neurodevelopmental disorder that appears in childhood and characterized by the presence of motor and vocal tics. Childhood-onset obsessive-compulsive disorder (OCD) is suggested to be a phenomenologically and etiologically distinct subtype of OCD, bearing a close genetic relationship to tic-disorders. Tourette's disorder and OCD are comorbid in $40-75\%$ of patients initially diagnosed with either disorder. Basal ganglia and cortico-striato-thalamic circuits are implicated in the pathophysiology of both disorders and these disorders have similar clinical features. Over the past decades, the progress in research on Tourette's disorder and OCD has been extraordinary. This review describes some of important insights from these work, involving these areas : 1) clinical implication 2) genetics and epidemiology 3) brain imaging study 4) neuroche-mistry 5) pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS).

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Application of DNA microarry : Comparative functional genomic approach

  • Chu In-Sun
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2006.02a
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    • pp.109-114
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    • 2006
  • 최근 Human 지놈 프로젝트를 포함한 다양한 종의 지놈 프로젝트가 수행되고 수많은 지놈정보가 생산되고 있으며 이를 해석하고 서로 연관성를 찾기 위한 다양한 연구가 진행되고 있다. 즉 최신 생명공학과 관련된 연구방향이 DNA의 구조적 해석에서 기능 해석과 유전자들의 상호연관성을 규명하는 방향으로 변화하고 있으며 이를 위한 강력한 도구로서 DNA microarray (DNA chip)는 방대한 양의 지놈 정보를 이용하여 단시간에 대량으로 고속처리하여 효율적으로 유전자 기능을 분석할 수 있는 주목받고 있는 방법이다. DNA microarray 실험과 분석에 있어 데이터분석, 재현성, 종간의 비교, 확인실험 및 비용 등의 문제가 있지만 유전자발현양상 데이터로부터 정확한 환자의 예후를 예측할 수 있는 비교적 적은 유전자 그룹의 진단마커를 찾거나, 하나의 유전자가 아니라 mouse 전체 지놈의 유전자발현 패턴을 인간의 암을 위시한 각종 질병 연구를 위한 발현 신호나 변화 등을 발견하여 신약개발 등에 활용하고자 하는 시도가 활발히 진행되고 있다. 서로 다른 종간에 비슷한 phenotype의 유전자발현도 진화적으로 보존되었다는 전제 하에서 지놈 sequence의 비교연구가 가능하고 DNA microarray 발현 데이터에 근거하여 독립적으로 각 종간의 유전자발현패턴을 비교함으로써 난치병 등을 새롭게 분류할 수 있다. 즉, 암세포 등에서 유전자발현 양상은 유전학적, 환경적 alteration들이 잘 반영되어 있다고 간주하고, 이러한 양상을 바탕으로 인간의 암을 위시한 다양한 질병 연구를 위한 최적의 mouse 모델을 찾을 수 있고, 이는 결국 새로운 치료 방법 개발이나 맞춤의학 실현에 중요한 역할을 할 것으로 기대된다. 특히 pathway 타겟으로 하는 치료를 위해서는 Human-mouse 비교를 통한 발현 신호를 찾는 것이 진단에서는 매우 유용한 방법이다. 이를 위한 고성능의 분석방법이나 시스템의 개발이 중요하게 된다.. 관류의 정도와 조영증강정도를 중심으로 관류 MR 영상소견과 조직학적 소견을 관련지어 분석하였다. 결과: 조영증강 T1강조MR영상에서 환상조영증강을 보이는 다형성 교보세포종 2예에서는 변연부 외륜이 고관류를, 중심부의 괴사부위는 저관류로 나타났다. 저등급 교종은 경계가 불분명한 저관류부위로 보였다. 뇌농양 2예는 변연부 외륜이 경도의 고관류를, 중심부는 저관류로 나타났다. 뇌수막종은 미만성의 균일한 중등도 혹은 고도의 고관류로 보였으며, 임파종과 배아종은 경계가 명확한 저관류부위로 나타났다. 신경세포종은 종괴\ulcorner 일부에 중등도 혹은 고도의 고관류부위가 관찰되었고, 전이암은 다수병변중 일부에서 중등도의 고관류를 보였다. 방사선괴사는 저관류부위내에 국소적 고관류부위를 보였다. 결론: 관류 MR영상은 뇌종양의 관류상태를 비교적 잘 반영하며, 조직학적 특성을 예측하는데에 도움을 주 수 있을 것으로 기대된다. 뇌종야에서의 관류MR영상의 분명한 역할을 규명하기 위해서는 앞으로 더 많은 임상적 연구가 필요할 것으로 생각된다.조증 환자의 자극성 전타액내 lactobacilli양은 peroxidase system을 함유한 세치제를 사용한 군에서 대조군에 비해 상대적으로 낮게 나타났으나(p = 0.067) 통계학적 유의성은 없었다.같은 예에서 찾아 볼 수 있다. 첫째, 발음상으로 동사의 변화형에서 "porte[$p{\jmath}rte$](들다: 현재형), porte[$p{\jmath}rte$](과거분사형), porta[$p{\jmath}rte$](단순과거형)"등이 대립되며, 이휘 "Porto[$p{\jmath}rte$](포르토)"와도 대립된다. 둘째, 어휘적 대립 "le haut[$l{\partial}o$](위)/l'eau[lo](물)"와 형태론적 대립 "le[$l{\partial}$](정관사, 남성단수)/l

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Oxidative Stability of Tallow Heated by Different Frying Conditions (튀김조건에 따른 가열 우지의 산화안정성)

  • 장영상;양주홍
    • Food Science and Preservation
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    • v.8 no.3
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    • pp.331-337
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    • 2001
  • The oxidative stability of tallow heated was studied by different frying condition (temperature 130, 150, and 180$^{\circ}C$;heating time, each 10hours per day, total 240hrs). Changes of physicochemical parameters such as acid value, peroxide value, iodine value, dielectric constant, content of polar components and polymer, refractive index, smoke point, viscosity and color changes in tallow heated were also measured. Acid value, dielectric constant, refractive index, viscosity, and content of polar component and polymer increased as the tallow was heated longer, whereas iodine value and smoke point decreased and peroxide value was increased and decreased repeatedly. These parameters changed to a greater extent as the heating temperature went up. The color became darkened with the increase of red and yellow values during heating. The decree of coloration was proportional to heating temperature.

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A Clinically Diagnosed Case of Multiple Epiphyseal Dysplasia (임상적으로 진단된 다발성 골단이형성증 1례)

  • Kim, Sun-Ja;Cho, Sung Yoon;Kim, Jinsup;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Shim, Jongsup;Kim, Ok-Hwa;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.49-54
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    • 2015
  • Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

Molecular Genetic Analysis in Dystroglycanopathy with the Fukuyama Congenital Muscular Dystrophy Phenotype (Fukuyama 선천성 근이영양증에서의 분자유전학적 분석)

  • Cha, Lily Myung-Jin;Shin, Jae Eun;Kim, Se Hoon;Lee, Min Jung;Lee, Chul Ho;Lee, Young-Mock
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.2
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    • pp.48-54
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    • 2017
  • Purpose: Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal-recessive disorder characterized by early-onset hypotonia associated with brain malformations in dystroglycanopathy. Although the wide spectrum of congenital muscular dystrophies causes difficulty in diagnosis, correlating the genotype with the clinical phenotype can help diagnose FCMD. Here, we evaluated the correlation of targeted molecular genetic analysis of FKTN gene mutation with the FCMD phenotype. Methods: This study was conducted retrospectively with 9 subjects. Inclusion criteria included clinical symptoms characterized by early-onset hypotonia with magnetic resonance imaging (MRI) featuring brain malformations. FKTN gene-alteration analysis was performed using various FKTN gene-analysis methods, including sequencing. Results: Among the 9 subjects studied, 4 (44.4%) were male and 5 (55.6%) were female. The median age of onset of the first symptom was 3.1 months. The first symptom was a delayed milestone in 6 cases (66.7%). All 9 subjects (100%) presented with early-onset hypotonia and global delayed development. All subjects presented with cortical malformation in their brain MRIs. Of the 9 subjects, 6 subjects had previously undergone muscle biopsy and 4 cases (4/6; 66.7%) showed dystrophic or myopathic features. Pathogenic mutations causing FCMD were identified in 3 cases. Conclusions: In this study, all 3 subjects with FKTN mutations showed important MRI findings (pachygyria and cerebellar dysplasia). These data suggest that patients with characteristic phenotypes who show pachygyria and cerebellar abnormalities in brain MRIs may have a high probability of being diagnosed with FCMD.

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