• Journal of Genetic Medicine
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• v.14 no.2
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• pp.71-74
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• 2017

Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy, which were reported to be caused by mutations in exon 21. The second phenotype includes hereditary sensory and autonomic neuropathy type 1E, which was suggested to be caused by mutations in exon 20 and 21. In this article, we report a novel heterozygous missense variant c.898A>C, p.(Lys300Gln) in exon 12 of DNMT1 in a young woman who presented with pure cerebellar ataxia. This report indicates that a mutation in exon 12 may lead to pure cerebellar ataxia. Another possibility is that the patient is currently in an early stage of the disease, and as the disease progresses, she will have more manifestations. To confirm or exclude this possibility, a subsequent follow-up study reporting the disease progression in this patient may be needed. Further reports of cases with the same mutation are needed to confirm the phenotype of this mutation.

• Sleep Medicine and Psychophysiology
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• v.5 no.2
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• pp.202-209
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• 1998

Authors report the findings of nocturnal polysomnography and multiple sleep latency test(MSLT) before and after morning light treatment in a winter depressive patient with hypersomnia. On polysomnographic recordings, the sleep pattern of this case before light treatment was similar to that of narcolepsy exhibited, sleep onset REM period(SOREMP). After treatment, the shortened REM latency changed to normal condition, but, deep sleep percentage did not changed, and stage 4 sleep percentage was decreased. Depressive symptoms were improved on clinical interview with Hamilton Depressive Rating Scale. Sleep log showed shortened sleep latency and reduced sleep duration. These findings suggest that although light treatment could alter the sleep structure in seasonal affective disorder with hypersomnia, it does not necessarily imply that antidepressant response of light treatment is result of change of sleep structure.

• Environmental Analysis Health and Toxicology
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• v.27
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• pp.7.1-7.7
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• 2012

Objectives: Modafinil is a waking drug prescribed to narcolepsy patients, but its usage among healthy individuals is increasing to enhance their alertness or to mitigate fatigue. This study was conducted to investigate practical use and toxic effects on neuro-immune interaction of modafinil. Methods: This study reviewed the significance of psychoactive drugs, and discussed the benefits and risks of the application of modafinil, which seems to be ideal as an anti-psychotic or anti-fatigue agent. Results: Modafinil is known to have less or no adverse effects than those found in traditional psychostimulants such as amphetamine, methylphenidate or cocaine. It can be applied as an anti-psychotic or anti-fatigue agent. However, the waking mechanism of modafinil is yet to be fully revealed. Recent studies reported that modafinil may be subject to abuse and addiction. In addition prolonged sleeplessness induces stress responses and impairs immune function. Conclusions: Modafinil can be used by anyone, who wishes to work late, stay awake, enhance their cognitive reactions, or brighten their moods. Users may already be under a great level of stress, i.e. cancer patients or soldiers in a battle field. A psychoneuroimmunological approach is thus needed to investigate the multi-functional effects of modafinil.

• Journal of East-West Nursing Research
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• v.15 no.1
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• pp.43-53
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• 2009

Purpose: This study is to summarize of Western-Eastern books and articles on sleep disturbances and to analyze the trends of nursing research in Korea. Methods: The Western-Eastern books and articles on sleep disturbances were comprehensively reviewed. The 70 articles published from 1981-2008 of Korean nursing research about sleep disturbances were reviewed using a structured form. Results: In Oriental medicine, the main cause of sleep disorder is unbalance of Yin and Yang, the treatments are herb therapy, acupuncture, moxibustion, psychotherapy, sleep hygiene, etc. In Western medicine, the International Classification of Sleep disorder is dyssomnia, parasomnia, mental/neurologic or other medical disorders, proposed sleep disorder and the treatments are pharmacotherapy, cure treatment of sleep hygiene, cause, behavior and perception. The number of nursing research and experimental study about sleep disorder in Korea is increasing. The most common subjects were hospitalized patients and the elderly, Of the 34 experimental studies, foot reflexology was the most commonly used as a nursing intervention. Conclusions: Nurses should concern more on patients' or clients' sleep disturbances to increase their quality of life. This literature study is useful for the access to effective nursing intervention for sleep disturbances.

• Journal of Korean Medical classics
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• v.24 no.6
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• pp.169-186
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• 2011

1. In Sui, Tang and Five Dynasty, a discourse related to sleep was published in various big Fang Shu(方書)'s that later became a valuable historical data. Notably, the importance of good sleep began to be properly discussed in "Bei Ji Qian Jin Yao Fang(備急千金要方)" of 'Sun Si Miao(孫思邈)', etc. 2. During Two Song era, achievements in the previous eras were accepted and diseases related to sleep were explored in more details. 3. In Jin and Yuan(金元) era, Liu He Jian(劉河間), in "Su Wen Xuan Ji Yuan Bing Shi(素問玄機原病式)", recognized 'anger' as the cause for various sleep disorders and Li Dong Yuan(李東垣), in "Pi Wei Lun(脾胃論)", believed 'lethargy' and 'Shi Hou Ji Hun Mao Yu Shui(食後卽昏冒欲睡)' are related to narcolepsy linked with stomach. Zhang Cong Zheng(張從正) observed 'insomnia' as an isolated disease whereas Zhu Dan Xi(朱丹溪), in "Ge Zhi Yu Lun(格致餘論)" argued about somnambulism based on the relationship between Xiang Huo(相火) and Xin huo(心火).

• Sleep Medicine and Psychophysiology
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• v.18 no.1
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• pp.40-44
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• 2011

Narcolepsy is a sleep disorder, which is characterized by excessive daytime sleepiness (EDS) that is typically associated with cataplexy, sleep fragmentation and other REM sleep-related phenomenon such as sleep paralysis and hypnagogic hallucination. Narcoleptic symptoms can be developed from various medical or neurological disorders. A 17-year-old male patient admitted for the evaluation of EDS which started three-month ago. He slept more than 18 hours a day with cataplexy and hypnagogic hallucination. He was obese with body mass index (BMI) of 30.4 kg/$m^2$. After admission he was newly diagnosed to the thyrotoxicosis. T3 391.2 ng/dL (60-181), free T4 4.38 ng/dL (0.89-1.76), TSH <0.01 ${\mu}IU$/mL (0.35-5.5) were measured. His pulse rate ranged 70-90 beats per minute and blood pressure ranged 150/100-120/70 mmHg. Polysomnography revealed many fragmentations in sleep with many positional changes (81 times/h). Sleep onset latency was 33.5 min, sleep efficiency was 47.9%, and REM latency from sleep onset was delayed to 153.6 min. REM sleep percent was increased to 27.1%. Periodic limb movement index was 13.4/h. In the multiple sleep latency test (MSLT), average sleep latency was 0.4 min and there were noted 3 SOREMPs (Sleep Onset REM sleep period) on 5 trials. We couldn't discriminate the obvious sleep-wake pattern in the actigraph and his HLA DQB1 $^*0602$ type was negative. His thyroid function improved following treatment with methimazole and propranolol. Vital sign maintained within normal range. Cataplexy was controlled with venlafaxine 75 mg. Subjective night sleep continuity and PLMS were improved with clonazepam 0.5 mg, but the EDS were partially improved with modafinil 200-400 mg. Thyrotoxicosis might give confounding role when we were evaluating the EDS, though sleep fragmentation was one of the major symptoms of narcolepsy, but enormous amount of it made us think of the influence of thyroid hormone. The loss of sleep-wake cycle, limited improvement of EDS to the stimulant treatmen, and the cataplexy not supported by HLA DQB1 $^*0602$ should be answered further. We still should rule out idiopathic hypersomnia and measuring CSF hypocretin level would be helpful.

• Sleep Medicine and Psychophysiology
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• v.9 no.2
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• pp.115-121
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• 2002

Objectives: Although sleep paralysis (SP) has been known as one of the symptoms of narcolepsy, recently it has become recognized as occurring frequently in the general population. However, the prevalence of SP and its associated factors in patients with major psychiatric disorders remain unknown. This study investigated the prevalence of SP and a variety of associated experiences in those patients. Methods: The subjects were 160 psychiatric patients and 143 age- and sex-matched controls. The Korean version SP questionnaire as well as the Sleep-Wake Schedule, Epworth Sleepiness Scale and Insomnia Severity Index were administered to all the subjects. The patients were referred from Dong-A University Hospital and consisted of 74 diagnosed as schizophrenia (47.7%), 26 as bipolar disorder (16.8%) and 55 as major depression (35.5%). Results: Nearly 42% of the patient group and 39% of the control group had experienced at least one episode of SP in their lifetime, with no significant difference between the groups. However, the patient group had experienced SP more frequently than the control group. Among all subjects, no gender difference in SP incidence was found. The peak age of onset was in the range of 16-25 years for both groups. Over eight tenths of both groups reported hallucinations and over seven tenths of both groups experienced fear accompanying SP. Conclusion: This study shows that there is no difference in the lifetime prevalence of SP between psychiatric patients and the general population, whereas frequency of SP experience is higher in psychiatric patients. Terrifying hallucinations and fearful feelings frequently accompany SP in both groups.

• Korea Science and Art Forum
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• v.35
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• pp.145-155
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• 2018

The goal of the study is to provide a new type of audio-visualization method through case analysis and work production based on Polysomnography(PSG) data that is difficult to interpret or not familiar to the public. Most art works are produced with conscious actions during waking hours. On the other hand, during sleep, we get into the world of unconsciousness. Therefore, through the experiment, want to discover if could get something new when we were in the subconscious state, and if so, wondered what kind of art could be made through it. The study method is to consider definition of sleep and sleep data first. The sleep data were classified into normal group and Narcolepsy, Insomnia, and sleep apnea by focusing on sleep disorder graphs that is measured by sleep polygraph. After that, I refined and converted the acquired biometric data into a text-based script. The degree of sleep in the text form of the script was rendered as a 3D animated image using Maya. In addition, the heart rate data script was transformed into a midi format, and the audition was implemented in the garage band. After Effects combines the image and sound to create four single channel images of 3 minutes and 20 seconds each. As a result of the research, I made an opportunity for anyone easy to understand the results, having difference with the normal data, through art instead of using difficult medical term. It also showed the possibility of artistic expression even when conscious actions did not occur. Through the results of this research, I expect the expansion and diversity of artistic audiovisual expression of biometric data.

• Sleep Medicine and Psychophysiology
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• v.24 no.1
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• pp.24-31
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• 2017

Objectives: Periodic limb movement disorder (PLMD) has been debated with regard to its clinical significance and diagnostic criteria. The current diagnostic criterion for PLMD in adults has been changed from periodic limb movement index (PLMI) > 5/hour to PLMI > 15/hour by the International Classification of Sleep Disorders (ICSD). In this study, we aimed to investigate the changes in polysomnographic sleep variables according to PLMI and to determine the relevance of the diagnostic criterion for PLMD. Methods: Out of 4195 subjects who underwent standard polysomnography, we selected 666 subjects (370 males and 296 females, aged $47.1{\pm}14.8$) who were older than 17 years and were not diagnosed with primary insomnia, sleep apnea, narcolepsy, or REM sleep behavior disorder. Subjects were divided into three groups according to PLMI severity: group 1 ($PLMI{\leq}5$), group 2 (5 < $PLMI{\leq}15$), and group 3 (PLMI > 15). Demographic and polysomnographic sleep variables and Epworth sleepiness scale (ESS) were compared among the three groups. Results: There were significant differences among the three groups in age and gender. Sleep efficiency (SE) and stage 3 sleep percentage in group 1 were significantly higher than those in groups 2 and 3. The wake after sleep onset (WASO) score in group 1 was significantly lower than those in groups 2 and 3. However, there were no significant differences in SE, stage 3 sleep percentage, or WASO between groups 2 and 3. Sleep latency (SL) in group 1 was significantly lower than that in group 3, but there was no difference in SL between group 2 and group 3. ESS score in group 1 was significantly higher than that in group 3, but there was no difference between group 2 and group 3. Partial correlation analysis adjusted by age showed that PLMI was significantly related to SE and WASO. Conclusion: This study suggests that PLMI influences polysomnographic sleep variables. In addition, we found the individuals who did not have PLMD but had PLMI > 5 were not different in polysomnographic sleep variables from the individuals who had PLMD according to the current criterion. These results raise questions about the relevance of the current diagnostic criterion of PLMD.

• Sleep Medicine and Psychophysiology
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• v.8 no.2
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• pp.113-120
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• 2001

Objectives: Obstructive sleep apnea syndrome is common and may produce various symptoms and serious complications. A substantial number of research articles on obstructive sleep apnea syndrome have been published in Korea. However, we found such limitations as lack of sufficient sample size and lack of polysomnography-proven cases. Therefore, we aimed at studying clinical features and sleep structure in a sufficient number of Korean patients with obstructive sleep apnea syndrome diagnostically confirmed with polysomnography. Methods: We studied 801 subjects referred to the Division of Sleep Studies, Seoul National University Hospital, who were diagnosed as having obstructive sleep apnea syndrome with polysomnography. Subjects were excluded if they had central sleep apnea syndrome, periodic limb movement disorder, narcolepsy or REM sleep behavior disorder. Foreign patients were also excluded. First of all, we studied the clinical features of the subjects. Secondly, we compared sleep-related parameters of the study subjects with those of age/sex-matched normal values. Thirdly, correlations of respiratory disturbance index (RDI) with each of the sleep-related parameters were calculated. Results: Among the 801 subjects, 668 were male subjects (83.4%) and 133 female subjects (16.4%). Their mean age was 46.6 years (${\pm}13.5$). The mean body mass index (BMI) was 25.8 (${\pm}3.8$) and subjects with BMI was over 28.0 accounted for 22.8% of the total. Fifty subjects (6.2%) were found to take benzodiazepines. Mean RDI and mean nocturnal oxygen saturation of all subjects was 31.2 (${\pm}24.4$) and 94.5% (${\pm}3.6$), respectively. In comparison with normal values, the subjects showed longer sleep latency, lower sleep efficiency, decreased total slow wave sleep % (TSWS %), and decreased total REM sleep % (TREM %)(p<0.01 in all). RDI had a negative correlation with each TSWS % and TREM % (p<0.01, p<0.01). However, RDI did not have significant correlation with either sleep latency or sleep efficiency. Conclusion: In this study, 6.2% of patients diagnosed as having obstructive sleep apnea syndrome were found to take benzodiazepines, although they are generally considered to be of litte benefit or even dangerous because of the respiratory suppressing effect. The proportion of obese subjects was only 22.8% and Korean patients with obstructive sleep apnea syndrome seem to be less obese than those described in foreign journals. This study also suggests that the severity of obstructive sleep apnea syndrome may have a more significant effect on sleep architecture defined as TSWS % and TREM % than on sleep efficiency.