• Journal of Genetic Medicine
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• v.4 no.2
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• pp.186-189
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• 2007

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.9 no.1
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• pp.98-104
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• 1998

A 12-year-old girl with a 6 year history of childhood-onset schizophrenia required 2 hospitalizations and long-term clozapine trial due to inadequate responses to combinations of typical neuroleptics and traditional treatments of schizophrenic disorder. On admission, she had continuous auditory and visual hallucinations, persecutory delusion, emotional instability, regression of behaviors including temper tantrums as well as specific developmental delays in learning, language, and motor coordination. The clozapine trial significantly reduced most of the positive symptoms, and facilitated in successful discharge from the hospital. During the 4 year clozapine treatment, no significant adverse reactions were noted, and she returned to a structured school setting with minimal degrees of schizophrenic symptoms. From this clinical experience, we suggest that clozapine might be safe and effective in treating treatment-refractory schizophrenic children.

• Sleep Medicine and Psychophysiology
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• v.27 no.1
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• pp.24-31
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• 2020

Objectives: Subjective-objective discrepancy of sleep (SODS) is a common symptom and one of the major phenotypes of insomnia. A distorted perception of sleep deficit might be related to abnormal brain reactivity to insomnia-related stimuli. We aimed to investigate differences in brain activation to insomnia-related stimuli vs. general anxiety-inducing stimuli among insomnia patients with SODS, insomnia patients without SODS, and healthy controls (HCs). Methods: All participants were evaluated for subjective sleep status using a sleep diary and questionnaires; occult sleep disorders and objective sleep status were assessed using polysomnography and actigraphy. Task functional magnetic resonance imaging was performed during insomnia-related stimuli (Ins) and general anxiety-inducing stimuli (Gen). Brain reactivity to Ins versus Gen was compared among insomnia with SODS, insomnia without SODS, and HC groups, and a combined insomnia disorder group (ID, insomnia with and without SODS) was also compared with HCs. Results: In the insomnia with SODS group compared to the insomnia without SODS group, the right precuneus and right supplementary motor areas showed significantly increased BOLD signals in response to Ins versus Gen. In the ID group compared to the HC group, the left anterior cingulate cortex showed significantly increased BOLD signals in response to Ins versus Gen. Conclusion: The insomnia with SODS and ID groups showed higher brain activity in response to Ins versus Gen, while this was not observed in the insomnia without SODS and HC groups, respectively. These results suggest that insomnia patients with sleep misperception are more sensitive to sleep-related threats than general anxiety-inducing threats.

• Investigative Magnetic Resonance Imaging
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• v.13 no.1
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• pp.40-46
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• 2009

Purpose : The purpose of this study was to investigate the quantitative evaluation of the corticospinal tract (CST) at the multiple levels by using functional MRI (fMRI) co-registered to diffusion tensor tractography (DTT). Materials and Methods : Ten normal subjects without any history of neurological disorder participated in this study. fMRI was performed at 1.5 T MR scanner using hand grasp-release movement paradigm. DTT was performed by using DtiStudio on the basis of fiber assignment continuous tracking algorithm (FACT). The seed region of interest (ROI) was drawn in the area of maximum fMRI activation during the motor task of hand grasp-release movement on a 2-D fractional anisotropy (FA) color map, and the target ROI was drawn in the cortiocospinal portion of anterior lower pons. We have drawn five ROIs for the measurement of FA and apparent diffusion coefficient (ADC) along the corona radiata (CR) down to the medulla. Results : The contralateral primary sensorimotor cortex (SM1) was mainly found to be activated in all subjects. DTT showed that tracts originated from SM1 and ran to the medulla along the known pathway of the CST. In all subjects, FA values of the CST were higher at the level of the midbrain and posterior limb of internal capsule (PLIC) than the level of others. Conclusion : Our study showed that co-registered fMRI and DTT has elucidated the state of CST on 3-D and analyzed the quantitative values of FA and ADC at the multiple levels. We conclude that co-registered fMRI and DTT may be applied as a useful tool for clarifying and investigating the state of CST in the patients with brain injury.

• Journal of Oral Medicine and Pain
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• v.36 no.3
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• pp.187-197
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• 2011

Temporomandibular disorders(TMD) is a collective term which is embracing a number of clinical problems that involve the masticatory musculature, the TMJ and associated structures, or both. Myofascial pain, which is a kind of masticatory muscle disorder of TMD, is the sensory, motor, and autonomic symptoms caused by myofascial trigger points. There has been some controversies regarding etiologies of TMD and MFP. Especially the issue of occlusal conditions has been a critical issue for long time. Despite much efforts, the results of studies regarding occlusal conditions were contradictory. These controversies might be mostly due to various factors resulting from the complex nature of TMD, however, inaccurate and inappropriate study design, selection criteria, methodologies also play significant roles. Recently, a computerized occlusal analysis system, T-Scan II which made it possible to reveal quantifiable time data and relative force data for analyzing occlusion, was introduced. Some authorities suggested that the concept of disclusion time and prolonged disclusion time of posterior tooth and MFP are related using T-Scan II. But the previous studies which used T-SCAN II are not reliable for they did not provide accurate diagnostic criteria of MFP. Morever they did not compare with controls, and had many other problems. The purpose of this study was to evaluate the relationship between MFP and prolonged disclusion time of posterior tooth, which is one of the occlusal factors of TMD, by selecting 30 subjects as the study group through strict criteria and comparing them with 38 controls using T-SCAN II, computerized occlusal analysis system. The results, statistically analyzed, are summarized as follows: 1. Cronbach ${\alpha}$ coefficient of repeated measurements of disclusion time was 0.92. 2. There were no statistically significant differences at repeated measured disclusion time of both side between control and study group. 3. There was no statistically significant diffefence in the disclusion time between right and left side. From the results above, we can suggest that there was no relationship between MFP and disclusion time, so irreversible treatments leading to the reduction of disclusion time for treating MFP would not be appropriate. However more controlled, large scaled study, which consider various occlusal factors, and quantification of symptoms using Helkimo index would be necessary in the future.