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Identification of Homozygous Mutations in Two Consanguineous Families with Hearing Loss (청력 장애를 나타내는 두 근친 가계로부터 동형접합성 돌연변이의 분리)

  • Lim, Si On;Park, Hye Ri;Jung, Na Young;Park, Cho Eun;Kanwal, Sumaira;Chung, Ki Wha
    • Journal of Life Science
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    • v.31 no.5
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    • pp.453-463
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    • 2021
  • Hearing loss is a group of clinically and genetically heterogeneous disorders characterized by congenital- to adult-onset deafness with frequent additional symptoms such as myopathy, nephropathy, and optic disorders. It is commonly divided into two types: syndromic, with no other symptoms, and nonsyndromic, with other symptoms. Autosomal recessive hearing loss is relatively frequent in Pakistan, which may be due in part to frequent consanguineous marriages. This study was performed by whole exome sequencing to determine the genetic causes in two Pakistani consanguineous families with autosomal recessive hearing loss. We identified a pathogenic homozygous variant (p.Leu326Gln in MYO7A) in a family with prelingual-onset hearing loss and two variants of uncertain significance (p.Val3094Ile in GPR98 and p.Asp56Gly in PLA2G6) in a family with early-onset hearing loss concurrent with muscular atrophy. The missense mutations in MYO7A and PLA2G6 were located in the highly conserved sites, and in silico analyses predicted pathogenicity, while the GPR98 mutation was located in the less conserved site, and most in silico analysis programs predicted its nonpathogenic effect. Homozygosity mapping showed that both alleles of the homozygous mutations identified in each family originated from a single founder; spread from this single source might be due to consanguineous marriages. This study will help provide exact molecular diagnosis and treatment for autosomal recessive hearing loss patients in Pakistan.

Comparison of health indicators and lifestyle according to atherogenic index of plasma in Korean adults in their 20s and 30s (한국 20-30대 성인의 Atherogenic Index of Plasma에 따른 건강지표 및 생활습관비교)

  • Bora Hwang;Yoon Jung Yang
    • Journal of Nutrition and Health
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    • v.56 no.2
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    • pp.168-183
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    • 2023
  • Purpose: Cardiovascular disease is one of the major causes of death not only in Korea but also worldwide. Atherogenic index of plasma (AIP) has been extensively investigated, but studies on nutritional intake and eating habits are scarce. The purpose of this study was to analyze the general characteristics, dietary habits, and nutritional status of Korean adults based on their AIP values using data from the 2013-2015 Korea National Health and Nutrition Examination Survey. Methods: A total number of 3,040 adults in their 20s and 30s were included as study subjects. They were divided into quintiles according to their AIP values. Comparisons were then made among the general information, eating habits, and nutritional intake statuses of the groups. Results: The averages of AIP were different by age, obese status, education, occupation, alcohol drinking frequency, smoking, and exercise in men. As for women, the averages of AIP were different by age, obese status, education, occupation, alcohol drinking frequency, and smoking status. Except for high-density lipoprotein (HDL)-cholesterol, higher AIP values in men were associated with significant increasing trends in health indicators, including systolic and diastolic blood pressure, fasting blood glucose, insulin, hemoglobin A1c, total cholesterol, triglyceride, and low-density lipoprotein (LDL)-cholesterol. As for women, as AIP increased, systolic and diastolic blood pressure, fasting blood glucose, insulin, total cholesterol, triglyceride, and LDL-cholesterol showed significant increasing trends except HDL-cholesterol. HDL-cholesterol showed a significant decreasing trend as AIP increased in men and women. In the high AIP group of women, the frequency of breakfast was lower, whereas the frequency of alcohol beverage consumption was higher. Conclusion: Among young adults, the risk of arteriosclerosis was higher in obese, smoking, and non-exercise individuals. More frequent alcohol drink consumption in women is associated with a higher risk of arteriosclerosis. Therefore, weight and lifestyle management are necessary for the prevention of atherosclerosis among young adults.

An Analysis of the Effect of the Residential Environment of Young Single-person Households on Residential Satisfaction and Life Satisfaction (청년 1인 가구의 주거환경이 주거와 삶의 만족도에 미치는 영향: 다른 연령 집단과의 비교를 중심으로)

  • Yongwook Kim;Saehim Kim;Joonwon Hwang;Mi-Jeong Cho
    • Land and Housing Review
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    • v.14 no.2
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    • pp.19-34
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    • 2023
  • The proportion of single-person households has been steadily increasing, and the young account for the highest proportion at 35.9% among all single-person households. However, research on young single-person households has been relatively recent. Research on single-person households has mostly focused on all single-person households or elderly single-person households, and comparative research between different age groups is lacking. Therefore, this study categorizes all single-person households into young, middle-aged, and elderly groups to investigate the differences in the factors that affect their residential satisfaction and to analyze how these residential environment factors affect life satisfaction through the mediating effect of residential satisfaction. The 2020 Seoul Survey Urban Policy Index Survey data were analyzed using a structural equation model to investigate the impact of each factor. First, a finding is that various residential environment factors directly affect residential satisfaction and life satisfaction. Next, it was found that residential satisfaction directly affects life satisfaction in the models of young and middle-aged single-person households. Through this, it was confirmed that there are differences in residential environment factors that affect residential satisfaction and that residential satisfaction plays an important mediating role. Finally, it was found that the factors that affect the residential and life satisfaction of young single-person households are more diverse compared to other age groups. This study provides policy implications that age group differences should be considered first in order to improve the residential and life satisfaction of single-person households. In particular, for young single-person households, it is necessary to consider more diverse alternatives to improve their residential and life satisfaction.

Social Anxiety in Korean Society (한국 사회의 사회적 불안에 관한 연구)

  • Young-Oh Hong;Kwan-Jae Song;Su Ae Park;Hyejin Lee;Jae Chang Lee
    • Korean Journal of Culture and Social Issue
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    • v.12 no.1
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    • pp.129-160
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    • 2006
  • The purposes of this study were to find 1) the realities of social anxiety and perception of various kinds of social problems that exists in Korean society as well as the perception on the events that causes the social anxiety, 2) to see the difference of perceived level of social anxiety through variables of social demography and difference of perception on Korean society. The sample was distributed according to population size distinguishing the nation to 6 regions. The data of 1,375 adult respondents were analysed. The results are as follows. First of all, respondents mentioned that the most immediate problem to be solved in Korean society was financial anxiety, and the most desirable state of society was when the society is financially stabled. Single question was measured about social anxiety of Korean society and scored 6.84 from full marks of 10, showing difference in variables for instance sex, age, and subjective S.E.S. where women, aged under 20, and perceived low class group showed the highest rate of social anxiety. However, there weren't any difference found in social anxiety of the variables like presence of religion, educational background, residence, and monthly average household income. Also, there were differences in level of social anxiety according to the difference of perception of Korean society. Higher the perceived unpredictability, uncontrollability, and unmovability to the upper class, unfairness, and uncertainty, unreliability of the Korean society, higher the social anxiety. And the lower the perceived chance of success of reformation, higher the social anxiety. It was also found that the perceived social anxiety is influenced by social accidents and phenomenon as unemployment, economic depression, and the gap between rich and poor as well as the increase of crime through effluence of personal information. Finally the limitations and implications of this study were discussed.

Efficacy and Safety of COVID-19 Vaccines in Adolescents: Systematic Review of Randomized Controlled Studies and Observational Studies

  • Soo-Han Choi;Su-Yeon Yu;Jimin Kim;Miyoung Choi;Youn Young Choi;Jae Hong Choi;Ki Wook Yun;Young June Choe
    • Pediatric Infection and Vaccine
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    • v.31 no.1
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    • pp.12-24
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    • 2024
  • The number of pediatric coronavirus disease 2019 (COVID-19) cases worldwide are increasing compared to the early phase of the pandemic, along with highly transmissible severe acute respiratory syndrome coronavirus variant and the increase in adult COVID-19 vaccination. We conducted a rapid systematic review and meta-analysis of published randomized clinical trials (RCTs) of the COVID-19 vaccines and the observational retrospective studies on adverse events after COVID-19 vaccination in adolescents. Seventeen studies were finally included in this systematic review. Meta-analysis showed that although vaccination in adolescents was significantly effective to prevent COVID-19 infection in retrospective studies (risk ratio [RR], 0.29; 95% confidence interval [CI], 0.22-0.37; I2 =100%), however the effect of preventing COVID-19 infection was lower than in RCTs (RR, 0.05; 95% CI, 0.01-0.27). In five retrospective studies, the pooled estimated proportion of participants with myocarditis and/or pericarditis was 2.33 per 100,000 of the population (95% CI, 0.97-5.61 per 100,000). Sub-group analysis with sex and vaccine doses showed that male (5.35 per 100,000) and the second dose (9.71 per 100,000) had significantly higher incidence of myocarditis and/or pericarditis than female (1.09 per 100,000) and the first dose (1.61 per 100,000), respectively. Our study showed that mRNA COVID-19 vaccines in adolescent recipients were favorable and effective against COVID-19 in RCT as well as observational studies. The safety findings of BNT162b2 vaccine in adolescents were explored and we found the difference of safety according to sex and vaccine doses. The occurrence of adverse events after mRNA COVID-19 vaccination should be monitored.

Purification of antigenic proteins of Paragonimus westermani and their applicability to experimental cat paragonimiasis (폐(肺)디스토마(Paragonimus westermani) 감염(感染) 고양이 혈청(血淸)에 대(對)한 ELISA 항체가(抗體價)의 의의(意義))

  • Choi, Won-Young;Yoo, Jae-Eul;Nam, Ho-Woo;Choi, Hyung-Rak
    • Parasites, Hosts and Diseases
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    • v.24 no.2
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    • pp.177-186
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    • 1986
  • This study was designed to evaluate the partially purified antigens which were fractionated from crude extract of Paragonimus westermani and to monitor the enzyme-linked immunosorbent assay (ELISA) in experimental cat paragonimiasis during the course of infection as well as before and after chemotherapy. Crude extract of 6-month-old adult P. westermani was fractionated to 5 antigens by successive applications of ammonium sulfate precipitation, ion exchange chromatography and gel filtration. And the cats, 10 in each group, were infected with 60, 30, 15, and 5 metacercariae, then the half of each group was treated with praziquantel 2 times in one day of 100mg per kilogram of weight on 150 days after the infection. Sera were collected every 10 days. ELISA was performed with the concentration of $2{\mu}g/ml$ antigen, 100 times diluted sera and 1,000 times diluted alkaline phosphatase conjugated anti-cat IgG. The results were as follows: 1. Absorbance by ELISA with proteins precipitated by differential concentration of ammonium sulfate was the highest at $51{\sim}65%$ precipitate (PA2), followed by $0{\sim}50%$ precipitate (PAl), $66{\sim}80%$ precipitate (PA3), and $81{\sim}90%$ precipitate (PA4). Unprecipitated protein over 90% ammonium sulfate (PA5) showed the lowest antigenicity. 2. Fractionation of PA1, PA2, and PA3 through the DEAE-cellulose column did not differentiate the antigenic proteins. 3. By passing through the Sephadex G-200 column, PA1 and PA2 were fractionated to high molecular weight proteins and those of low molecular weight which showed high absorbance by ELISA (PA1-I, II and PA2-I, II). But PA3 was shown to have a fraction of high molecular weight proteins (PA3-I) which showed high antigenicity. 4. SDS-polyacrylamide gel electrophoresis of PA1-I, P A1-II, PA2-I, PA2-II, PA3-I, and crude extract was performed. Fraction PA1-I was composed of proteins which had the molecular weight of 270 kilodaltons(KD) to 196 KD; of them 220KD protein was major band. Fraction PA2-I was composed of $255{\sim}225\;KD$, and PA3-I, $255{\sim}240\;KD$, respectively. Fraction PA1-II and fraction PA2-II consisted of 30 KD proteins. 5. Absorbance by ELISA began to increase within $10{\sim}20$ days after the infection and reached the highest on $140{\sim}180$ days, then made plateau thereafter. 6. Absorbance by ELISA decreased after praziquantel treatment. In 60 metacercariae infection group, the absorbance had been decreasing, but remained within the positive range during observation period, while those of 30, 15, and 5 metacercariae infection groups turned to negative range. 7. Fraction PA1-II showed the highest antigenicity in ELISA, then fraction PA2-I, fraction PA1-I, fraction PA2-II, fraction PA3-I and crude extract followed. In early phase of infection, the absorbance of fraction PA1-II showed more rapid increase than those of the other fractions and it came to positive range at $20{\sim}30$ days after infection.

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A Clinical Study of Tsutsugamushi Fever in Children during 1997~2000 in the Western Kyungnam Province (최근 4년간 서부 경남지역의 소아에서 발생한 쯔쯔가무시열의 임상적 고찰)

  • Ju, Hye Young;Lee, Jun Su;Kim, Jeong Hee;Yoo, Hwang Jae;Kim, Chun Soo
    • Pediatric Infection and Vaccine
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    • v.8 no.2
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    • pp.213-221
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    • 2001
  • Propose : Tsutsugamushi fever is a acute febrile disease, which is caused by O. tsutsugamushi. Recently, this disease is increasingly reported in children. This study was undertaken to investigate clinical features of tsutsugamushi fever in children. Methods : This study involved 17 children with tsutsugamushi fever who were admitted to Masan Samsung hospital between September 1997 and December 2000. We investigated the age, sex ratio, clinical manifestations, laboratory findings, response of therapy and prognosis. Results : The age of patients was $6.9{\pm}3.6$ years, ranging from 6 months to 12 years and male predilection(58.8%) was noted and all cases of patients occured in October or November. The most common symptoms were fever in all cases and headache in 8(47.1%). The most common signs were skin rash in all cases, eschar in 14(82.4%) and lymphadenopathy 8(47.1%). Locations of the eschars were back and inguinal area in each 3 cases, neck and chest in each 2, popliteal area in 2, scalp and thigh in each 1. Laboratory findings included anemia in 1 case, leukopenia and thrombocytopenia in each 5, hematuria and proteinuria in each 1, ESR elevation in 2 and positive CRP in 12, AST elevation in 9 and ALT elevation in 7. Serologic diagnosis was made by passive hemagglutination assay(PHA) in 8 cases(47%) on admission, 4 cases in initial negative group were performed follow-up test at 2nd or 3rd weeks of illness and then all cases of 4 were converted to positive reaction. Clinical improvement was noticed in all cases after treatment to chloramhenicol or doxycycline. Mean duration for defervescence after treatment was $1.4{\pm}0.8$ days. Complications were interstitial pneumonia in 1 case and aseptic meningitis in 3, but all cases of patients were recovered without sequelae or recurrence. Conclusions : Tsutsugamushi fever in children was similiar to adult in the clinical features except male predilection. Early diagnosis and empirical treatment based on clinical manifestations such as fever, skin rash, eschar, lymphadenopathy is important and serologic diagnosis need to perform follow-up test at 2nd or 3rd weeks of illness.

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Studies on the Post-hatching Development of the Testis in Korean Native Chickens (한국 재래 닭 부화 후 고환 발달에 관한 연구)

  • Jang, B.G.;Tae, H.J.;Choi, C.H.;Park, Y.J.;Park, B.Y.;Park, S.Y.;Kang, H.S.;Kim, N.S.;Lee, Y.H.;Yang, H.H.;Ahn, D.C.;Kim, I.S.
    • Korean Journal of Poultry Science
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    • v.33 no.3
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    • pp.171-179
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    • 2006
  • Changes in the chicken testis from hatching to adulthood were studied in Korean native chickens of 1, 2, 4, 6, 8, 10, 12, 14, 16, 18, 21, 24, 28, 32, 44, 52 and 64 weeks (n=13 chickens per group) of age. The present study was to investigate in more detail the post-hatching development of testis in Korean native chickens. Testes of chickens were fixed by whole body perfusion using a fixative containing 2.5% glutaraldehyde in cacodylate buffer, processed and embedded in Epon-araldite. Using $1{\mu}m$ sections stained with methylene blue-azure II, qualitative and quantitative(stereological) morphological studies were performed. Sperm production was measured by routine technique. The average volume of a testis of 1 week old Korean native chickens was determined as 0.015 g and the parameter increased linearly from 1 week to 21 weeks days (28.9 g), and did not change from 21 weeks to 64 weeks. The volume density of the seminiferous tubules increased with age from 32.6% at week 1 to 92.89% at week 64. The volume density of the interstitium represents 67.4% of the testicular parenchyma at week 1. This proportion progressively diminished during development to reach a value of 7.11% at week 64. Total sperm production per testis increased significantly from 18 weeks to 28 weeks and remained unchanged. Sperm production per 1 g testis increased significantly from 18 weeks to 28 weeks, did not change significantly from 28 weeks to 52 weeks, and declined significantly at 64 weeks of age. The average diameter of the seminiferous tubules gradually increased with age from 1 week $(42.4{\mu}m)$ to 21 weeks $(412.8{\mu}m)$. The length of the seminiferous tubules was 0.34 m at 1 week, increased significantly in subsequent age groups and reached 72.2 m by weeks 64. The stage of germ cell development in seminiferous tubules was classified as 1) spermatogonia $(1\sim8\;weeks)$, 2) spermatogonia and spermatocytes $(10\sim12\;weeks)$, 3) spermatogonia, spermatocytes and round spermatids $(14\sim16\;weeks)$, and 4) speramatogonia, spermatocytes, spermatids and spermatozoa $(18\sim64\;weeks)$. These results clarified the pattern of changes in the testicular development in Korean native chickens from hatching to adulthood as 1) neonatal-prepubertal $(1\sim12\;weeks)$, 2) puberty$(14\sim18\;weeks)$, and adult$(21\sim64\;weeks)$.

Detrended Fluctuation Analysis of Sleep Electroencephalogram between Obstructive Sleep Apnea Syndrome and Normal Children (소아기 수면무호흡증 환자와 정상 대조군 수면 뇌파의 탈경향변동분석)

  • Kim, Eui-Joong;Ahn, Young-Min;Shin, Hong-Beom;Kim, Jong-Won
    • Sleep Medicine and Psychophysiology
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    • v.17 no.1
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    • pp.41-49
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    • 2010
  • Unlike the case of adult obstructive sleep apnea syndrome (OSAS), there was no consistent finding on the changes of sleep architecture in childhood OSAS. Further understanding of the sleep electroencephalogram (EEG) should be needed. Non-linear analysis of EEG is particularly useful in giving us a new perspective and in understanding the brain system. The objective of the current study is to compare the sleep architecture and the scaling exponent (${\alpha}$) from detrended fluctuation analysis (DFA) on sleep EEG between OSAS and normal children. Fifteen normal children (8 boys/7 girls, 6.0${\pm}4.3$2.2 years old) and twelve OSAS children (10 boys/2 girls, 6.4${\pm}4.3$3.4 years old) were studied with polysomnography (PSG). Sleep-related variables and OSAS severity indices were obtained. Scaling exponent of DFA were calculated from the EEG channels (C3/A2, C4/A1, O1/A2, and O2/A1), and compared between normal and OSAS children. No difference in sleep architecture was found between OSAS and normal controls except stage 1 sleep (%) and REM sleep latency (min). Stage 1 sleep (%) was significantly higher and REM latency was longer in OSAS group (9.3${\pm}4.3$4.3%, 181.5${\pm}4.3$59.9 min) than in controls (5.6${\pm}4.3$2.8%, 133.5${\pm}4.3$42.0 min). Scaling exponent (${\alpha}$) showed that sleep EEG of OSAS children also followed the 'longrange temporal correlation' characteristics. Value of ${\alpha}$ increased as sleep stages increased from stage 1 to stage 4. Value of ${\alpha}$ from C3/A2, C4/A1, O1/A2, O2/A1 were significantly lower in OSAS than in control (1.36${\pm}4.3$0.05 vs. 1.41${\pm}4.3$0.04, 1.37${\pm}4.3$0.04 vs. 1.41${\pm}4.3$0.04, 1.37${\pm}4.3$0.05 vs. 1.41${\pm}4.3$0.05, and 1.36${\pm}4.3$0.07 vs. 1.41${\pm}4.3$0.05, p<0.05). Higher stage 1 sleep (%) in OSAS children was consistent finding with OSAS adults. Lower $'{\alpha}'$ in OSAS children suggests decrease of self-organized criticality or the decreased piling-up energy of brain system during sleep in OSAS children.

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The Characteristics of REM Sleep-Dependent Obstructive Sleep Apnea and NREM Sleep-Dependent Obstructive Sleep Apnea (렘수면 의존성 수면무호흡증과 비렘수면 의존성 수면무호흡증의 특징)

  • Seo, Min Cheol;Choi, Jae-Won;Joo, Eun-Jeoung;Lee, Kyu Young;Bhang, Soo-Young;Kim, Eui-Joong
    • Sleep Medicine and Psychophysiology
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    • v.24 no.2
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    • pp.106-117
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    • 2017
  • Objectives: Obstructive sleep apnea (OSA) is a sleep-related breathing disorder that is characterized by repetitive collapse or partial collapse of the upper airway during sleep in spite of ongoing effort to breathe. It is believed that OSA is usually worsened in REM sleep, because muscle tone is suppressed during REM sleep. However, many cases showed a higher apnea-hypopnea index (AHI) during NREM sleep than during REM sleep. We aimed here to determine the characteristics of REM sleep-dependent OSA (REM-OSA) and NREM sleep-dependent OSA (NREM-OSA). Methods: Five hundred sixty polysomnographically confirmed adult OSA subjects were studied retrospectively. All patients were classified into 3 groups based on the ratio between REM-AHI and NREM-AHI. REM-OSA was defined as REM-AHI/NREM-AHI > 2, NREM-OSA as NREM-AHI/REM-AHI > 2, and the rest as sleep stage-independent OSA (IND-OSA). In addition to polysomnography, questionnaires related to subjective sleep quality, daytime sleepiness, and emotion were completed. Chi-square test, ANOVA, and ANCOVA were performed. Results: There was no age difference among subgroups. The REM-OSA group was comprised of large proportions of mild OSA and female OSA patients. These patients experienced poor sleep and more negative emotions than other two groups. The AHI and oxygen desaturation index (ODI) were lowest in REM-OSA. Sleep efficiency and N3 percentage of REM-OSA were higher than in NREM-OSA. The percentage of patients who slept in a supine position was higher in REM-OSA than other subgroups. IND-OSA showed higher BMI and larger neck circumference and abdominal circumference than REM-OSA. The patients with IND-OSA experienced more sleepiness than the other groups. AHI and ODI were highest in IND-OSA. NREM-OSA presented the shortest total sleep time and the lowest sleep efficiency. NREM-OSA showed shorter sleep latency and REM latency and higher percentage of N1 than those of REM-OSA and the highest proportion of those who slept in a lateral position than other subgroups. NREM-OSA revealed the highest composite score on the Horne and ${\ddot{O}}stberg$ questionnaire. With increased AHI severity, the numbers of apnea and hypopnea events during REM sleep decreased, and the numbers of apnea and hypopnea events during NREM sleep increased. The results of ANCOVA after controlling age, sex, BMI, NC, AC, and AHI showed the lowest sleep efficiency, the highest AHI in the supine position, and the highest percentage of waking after sleep onset in NREM-OSA. Conclusion: REM-OSA was associated with the mild form of OSA, female sex, and negative emotions. IND-OSA was associated with the severe form of OSA. NREM-OSA was most closely related to position and showed the lowest sleep efficiency. Sleep stage-dependent characteristics could provide better understanding of OSA.