• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Sleep Medicine and Psychophysiology
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• v.26 no.1
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• pp.23-32
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• 2019

Objectives: Insomnia is not only the most common sleep-related disorder, but also is one of the most important. Knowledge of the comorbidities of insomnia is essential for proper treatment including pharmacological and non-pharmacological methods to prevent disease chronification. This study aimed to determine sleep clinic patients' knowledge of insomnia. Methods: This study recruited 44 patients (24 males and 20 females; mean age $54.11{\pm}16.30years$) from the sleep clinic at National Center for Mental Health. All subjects were asked to complete a self-report questionnaire about their reasons for visiting a sleep clinic and about their knowledge of treatment and comorbidities of insomnia. Results: The reasons for visiting the sleep clinic were insomnia symptoms of daytime sleepiness, irregular sleeping time, nightmares, snoring, and sleep apnea, in that order. Of the responders, 72.7% had a comorbidity of insomnia, and 22.7% showed high-risk alcohol use. In addition, 70.5% of responders chose pharmacological treatment of insomnia as the first option and reported collection of information about treatment of insomnia mainly from the internet and medical staff. More than half (52.3%) of the respondents reported that they had never heard about non-pharmacological treatments of insomnia such as cognitive behavioral treatment (CBT-I) or light therapy. The response rate about comorbidities of varied, with 75% of responders reporting knowledge of the relation between insomnia and depression, but only 38.6% stating awareness of the relation between insomnia and alcohol use disorder. Of the total responders, 68.2% were worried about hypnotics for insomnia treatment, and 70% were concerned about drug dependence. Conclusion: This study showed that patients at a sleep clinic had limited knowledge about insomnia. It is necessary to develop standardized insomnia treatment guidelines and educational handbooks for those suffering from insomnia. In addition, evaluation of alcohol use disorders is essential in the initial assessment of sleep disorders.

• Sleep Medicine and Psychophysiology
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• v.3 no.2
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• pp.32-42
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• 1996

Objectives : Upper airway resistance syndrome(UARS) is a sleep-related breathing disorder characterized by abnormal negative intrathoracic pressure during sleep. Abnormally increased negative intrathoracic pressure results in microarousal and sleep fragmentation which underlay UARS-associated complaints of daytime fatigue and sleepiness. Although daytime dysfunction in patients with UARS is comparable to that of sleep apnea syndrome, UARS has been relatively unnoticed in clinical setting. That is why UARS is apt to be excluded in diagnosing of sleep-related breathing disorders since its respiratory disturbance index and arterial oxygen saturation are within normal limits. The current study presents a summary of clinical and polysomnographic characteristics found in patients with UARS. The present study aims (1) to explore characteristics of patients diagnosed with UARS, (2) to characterize the polysomnographic findings of UARS patients, and (3) to enhance the understanding of UARS through those clinical and laboratory characteristics. Methods : This was a retrospective study of 20 UARS patients (male 15, female 5) and 30 obstructive sleep apnea (OSA) patients (male 21, female 9) at the Stanford Sleep Disorders Clinic. We diagnosed patients as having UARS when they met critenia, RDI < 5 characteristic findings of an elevated esophageal pressure($<-10\;cmH_2O$), frequent arousals secondary to an elevated esophageal pressure, and symptoms of daytime fatigue and sleepiness. We used polysomnographic value, which is standardized by Williams et al(1974), as normal control. Statiotical test were done with student t-tests. Results : (1) Mean age of UARS was $41.0\;{\pm}\;14.8$ years and OSA was $50.9\;{\pm}\;12.0$ years. UARS subject was significantly younger than OSA subject (p<0.05). (2) The total score of Epworth Sleepiness Scale (ESS) was UARS $9.7\;{\pm}\;6.3$ and OSAS $11.2\;{\pm}\;6.3$. There was no significant difference between two groups. (3) The mean body mass index was UARS $28.1\;{\pm}\;5.7\;kg/m^2$ and OSAS $32.9\;{\pm}\;7.0\;kg/m^2$. UARS had significantly lower meen body man index than OSAS subjects (p<0.05). (4) The polysomnographic parameters of UARS were not significantly different from those of OSA except RDI(p<0.001), $SaO_2$ (p<0.001) and slow wave sleep latency (p<0.05). (5) Compared with normal control, Total sleep time in UARS subjects was significantly shorter (p<0.001), sleep efficiency index was significantly lower (p<0.001), total awakening percentage was significantly higher (p<0.001), and sleep stage 1 (p<0.001) were significantly higher. (6) OSA patients showed poor sleep quality and distinct abnormal sleep architectures compared with normal control. Conclusions : Conclusions from the above results are as follows : (1) UARS patients were younger and had lower body mass index when umpared with OSA patients. (2) The quality of sleep and sleep architectures of the UARS and OSA patients are significantly different from those of normal control. (3) ESS scores and awakening frequencies of UARS are similar with those of OSA, suggesting that daytime dysfunction of UARS patients may be comparable to those of OSA patients. (4) The RDI and the $SaO_2$ which are important indicators in diagnosing sleep-related breathing disorders, of UARS subjects are close to normal value. (5) According to the the above results, we unclude that despite the absence of $SaO_2$ drops and the absence of an elevated number of apnea and hypopnea, subjects developed clinical complaints which were associated with laborious breathing, elevated Pes nadir, and frequently snoring. (6) Accordingly, we suggest including LIARS in the differential diagnosis list when sleep related breathing disorder is suspected clinically and overnight polysomnographic findings except snoring and frequent microarousal are within normal limits.

• Journal of the Korean Society of Food Science and Nutrition
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• v.41 no.6
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• pp.807-815
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• 2012

This study was carried out to investigate the factors affecting the dietary adaptation of female immigrants in multi-cultural families in Busan. The survey was conducted from October 10 to November 30, 2010 using questionnaires, and the data was analyzed using the SPSS program. The subjects were mainly from China (58.8%), Vietnam (14.7%), Philippines (8.8%) and Japan (7.4%). The longer they had resided in Korea, the lower their preference they had for Korean foods. There were no significant differences in preference according to their nationality. The subjects reported that their consumption of cereals (36.7%), meats (40.0%), fish (50.8%), milk and dairy products (47.4%), vegetables (48.3%), fruits (44.8%), fat and oil (29.1%) and beverages (32.8%) were increased after immigration. They usually obtained information about Korean foods from family (26.5%) and television and internet (26.5%). Sixty four point seven percent of the females ate 'everyday' Korean foods and 30.9% ate their home country foods every day. A higher will for learning Korean foods, intake frequency and age resulted in a higher adaptation of Korean dietary life. Lower marital conflict resulted in higher adaptation. These results suggest that it would be effective to provide systematic nutrition education program for female immigrants and their families to adapt to Korean dietary life.