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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.

Analysis of Educational Needs by Adult Life Cycle for Well-aging Education Program Development (웰에이징 교육 프로그램 개발을 위한 성인 생애주기별 교육 요구도 분석)

  • Ku, Jin-Hee;Lim, HyoNam;Kim, Doo-Ree;Kang, Kyung-hee;Kim, Seol-Hee;Kim, Yong-Ha;Lee, Chong-Hyung;Ahn, Sang-Yoon;Kim, Kwang-Hwan;Song, Hyeon-Dong;Hwang, Hey-Jeong;Kim, Moon-Joon;Park, A-rma;Jo, Gee-yong;Chang, Kyung-Hee;Cho, Young-Chae
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.22 no.5
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    • pp.257-269
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    • 2021
  • This study aimed to secure basic data for the development and operation of well-aging education programs by analyzing the physical, mental, and socio-economic needs of well-aging education for successful aging. The research tool was developed as a questionnaire to investigate the perception of well aging and the needs of well-aging education in terms of physical, mental, and socio-economic aspects. In February 2021, 1949 adults over the age of 19 were surveyed through an online and mobile survey by Gallup Korea. Descriptive statistics analysis, variance analysis, Borich needs analysis, and IPA analysis were conducted to analyze the needs of well-aging education. The results revealed economic power, exercise, and chronic disease management to be high in terms of the overall priority of the education needs for well-aging, and infectious disease management, independence, and social responsibility were surveyed in the order of low education needs. In terms of economic power, education needs were highest among all age groups except for the middle-age group (35-49 years old), 82.4% of all respondents, and education needs for exercise and chronic disease management were highest in the middle-age group. Therefore, it is necessary to develop well-aging education programs for each life cycle. These results are expected to be used as empirical data in establishing a platform for developing and operating educational programs for well aging.

Developmental and Reproductive Characteristics of Mythimna loreyi (Noctuidae) Reared on Artificial Diets (인공사료로 사육한 뒷흰가는줄무늬밤나방(Mythimna loreyi ) (밤나방과)의 발육과 생식 특성)

  • Eun Young, Kim;I Hyeon, Kim;Jin Kyo, Jung
    • Korean journal of applied entomology
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    • v.61 no.3
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    • pp.423-434
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    • 2022
  • The two previously developed artificial diets (N4 and N6) used for rearing Spodoptera frugiperda (Noctuidae) larvae, were selected as highly-fit ones for rearing Mythimna loreyi larvae. Almost all biological characteristics were not significantly different between the colonies reared on the two diets at 25℃ and 15:9 h (light:dark) photoperiod. The developmental periods were 4.9-5.2 days for eggs, and 22.3-23.2 days for larvae. The pupal period and weight were different between the sexes in each diet colony. The pupal periods in females and males showed 12.6-12.8 days and 14.1-14.5 days, respectively. The pupal weights were ca. 345 mg for females and ca. 380 mg for males. The pupation and emergence rates were ca. 91-94%, and ca. 91-95%, respectively, without significant differences between the two colonies. The pre-oviposition and oviposition periods were 3.4 days and 4.7-4.8 days, respectively. The adult longevity was 8.2 days in females and 10.3-12.4 days in males. Total offsprings produced were found to be 724-847 larvae on an average with ca. 1,400 maximum larvae. In the life table analysis, the intrinsic rates of increases (0.1181 for N4 and 0.1253 for N6) were not significantly different between the two colonies. Individual differences in the larval instar number 5 and 6 were found within a diet colony. The ratios of 5-instar larvae were ca. 22% in N4 colony and ca. 7% in N6 colony. The larval period of 6-instar larvae was longer than that of 5-instar larvae. Width of head capsule in larvae varied from ca. 309 ㎛ for 1st instar to ca. 3,065 ㎛ for 6th instar. Body lengths measured from ca. 2.0 mm for 1st instar to ca. 29.1 mm for 6th instar. Larvae of M. loreyi and M. separata were found at the same time in a maize field during June and July, 2020.

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.

Significance Evaluation of Lung Volume and Pulmonary Dysfunction (폐용적과 폐기능 환기장애에 대한 유의성 평가)

  • Ji-Yul Kim;Soo-Young Ye
    • Journal of the Korean Society of Radiology
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    • v.17 no.5
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    • pp.767-773
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    • 2023
  • To In this study, we sought to evaluate related factors affecting lung volume and their significance in pulmonary function and ventilation disorders. As experimental subjects, 206 normal adult men and women who underwent a low-dose chest CT scan and a spirometry test were selected at the same time. The experimental method was to measure lung volume using lung CT images obtained through a low-dose chest CT scan using deep learning-based AVIEW. Measurements were made using the LCS automatic diagnosis program. In addition, the results of measuring lung function were obtained using a spirometer, and gender and BMI were selected as related factors that affect lung volume, and significance was evaluated through an independent sample T-test with lung volume. As a result of the experiment, it was confirmed that in evaluating lung volume according to gender, all lung volumes of men were larger than all lung volumes of women. he result of an independent samples T-test using the respective average values for gender and lung volume showed that all lung volumes were larger in men than in women, which was significant (p<0.001). And in the evaluation of lung volume according to BMI index, it was confirmed that all lung volumes of adults with a BMI index of 24 or higher were larger than all lung volumes of adults with a BMI index of less than 24. However, the independent samples T-test using the respective average values for BMI index and lung volume did not show a significant result that all lung volumes were larger in BMI index 24 or higher than in BMI index less than 24 (p<0.055). In the evaluation of lung volume according to the presence or absence of pulmonary ventilation impairment, it was confirmed that all lung volumes of adults with normal pulmonary function ventilation were larger than all lung volumes of adults with pulmonary ventilation impairment. And as a result of the independent sample T-test using the respective average values for the presence or absence of pulmonary ventilation disorder and lung volume, the result was significant that all lung volumes were larger in adults with normal pulmonary function ventilation than in adults with pulmonary function ventilation disorder (p <0.001). Lung volume and spirometry test results are the most important indicators in evaluating lung health, and using these two indicators together to evaluate lung function is the most accurate evaluation method. Therefore, it is expected that this study will be used as basic data by presenting the average lung volume for adults with normal ventilation and adults with impaired lung function and ventilation in similar future studies on lung volume and vital capacity testing.

Egg Development and Morphology of Larva and Juvenile of Liparis tanakae in the Coastal Waters off Yeosu (여수 연안산 꼼치(Liparis tanakae)의 난발생 및 자치어 형태발달)

  • Kyung-Ae Jung;Na-Young Jeon;Sang-Hun Cha;Sung-Hoon Lee;Tae-Sik Yu;Keong-Ho Han
    • Korean Journal of Ichthyology
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    • v.35 no.4
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    • pp.263-269
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    • 2023
  • This study aims to contribute to the research on resource recovery for the rapidly declining population of Liparis tanakae by observing the larval development process and the morphology of juveniles based on their growth. Natural spawning eggs collected in Yeosu were used for observing the process of egg development and larval morphology. The water temperature during the rearing process was maintained at 12.3~13.5℃ (average 12.7℃). The fertilized eggs had an egg diameter ranging from 1.57 to 1.79 mm (average 1.71 mm) and were spherical and adhesive. Within 4 hours 35 minutes after fertilization, they reached the two-cell stage, and after 74 hours 10 minutes, the formation of the yolk sac began. At 106 hours post-fertilization, a caudal fin appeared at the tail tip. Hatching began at 526 hours, and the larvae developed with the yolk sac positioned just behind the eyes. The newly hatched larvae had both the mouth and anus open. Melanophores appeared inside the lower jaw and around the tail on the third day after hatching. By the 16th day after hatching, most of the yolk was absorbed, and melanophores were visible in the head region. Finally, on the 63rd day after hatching, the head region significantly developed, and the body shape and mouth were similar to those of an adult fish, signifying the transition to the juvenile stage. This study will serve as valuable data for aquaculture techniques related to the conservation and restoration of fish species based on the hatching and juvenile morphology of Liparis tanakae.

Morphological Development, Growth and Survival of Barbour's Seahorse, Hippocampus barbouri (해마류 Hippocampus harbouri의 외부형태 발달과 성장 그리고 생존)

  • Choi Young-Ung;Jung Min-Min;Kim Sung-Chul;Kim Jae-Woo;Lee Jung-Uie;Lee Yoon-Ho;Rho Sum
    • The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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    • v.11 no.3
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    • pp.124-132
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    • 2006
  • We have investigated morphological development with growth and survival rates of juvenile for 158 days after parturition to get a basis data in the way of establishment of breeding techniques in the common seahorse species of Barbour's seahorse, Hippocampus barbouri. At 1 day after parturition, seahorse larvae were $8.82\sim10.36mm(mean\;9.48{\pm}0.69mm,\;n=4)$ in standard length (SL) with 17 dorsal fm rays, 14 pectoral fin rays and 4 anal fin rays. At 20 days after parturition, the size of seahorse larvae were $14.37\sim15.79mm(14.97{\pm}0.62mm,\;n=4)$ in SL, snout of seahorse larvae became slender was long, and body was coloration to the full as adult seahorse. At 41 days after parturition, seahorse larvae were grew $20.14\sim24.89mm(22.89{\pm}2.22mm,\;n=4)$ in SL with development of several spines in coronet, and their have 11 trunk rings and 35 tail rings. At 158 days after parturition, seahorse were grew to $59.07\sim63.76mm(61.42{\pm}3.32mm\;n=2)$, and head length (HL), trunk length (TrL) and tail length (TaL) were composed respectively $19.1{\pm}0.3%,\;25.2{\pm}0.7%$ and $55.8{\pm}0.3%$ of SL. In this time, survival rate is 15.6%.

Seasonal Variation in Species Composition and Abundance of Shallow Water Fishes at Taean Beaches, in the Yellow Sea of Korea (태안 해빈 천해 어류 종조성의 계절 변화)

  • Noh, Hyung-Soo;Youk, Kwan-Su;Hwang, Hak-Bin;Lee, Tae-Won
    • The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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    • v.14 no.3
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    • pp.145-154
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    • 2009
  • Seasonal variation in species composition and abundance of shallow water fish from the Hakampo and Yeonpo beaches in Taean in the western coast of Korea were determined by the analysis of monthly samples collected by a beach seine from January to December, 2007. A total of 30 species, 964 individuals and 10,564.1 g of fish were collected from the Hakampo beach, and a total of 46 species, 4,447 individuals and 28,622.4 g of fish from the Yeonpo beach. The juveniles of coastal fish such as Chelon haematochelius, Paralichthys olivaceus, Repomucenus lunatus, Sebastes schlegelii and Takifugu niphobles were predominated in abundance. And the juveniles of pelagic migrants such as Konosirus punctatus, Sardinella zunasi and Engraulis japonicus were abundantly collected between summer and autumn. The fish collected were mainly composed of small-sized species and juveniles. C. haematochelius and migrant fish were young of the year, and commercially important fish such as S. schlegeli, P. olivaceus, Pleuronectes yokohamae and Hexagrammos otakii were 1 to 2 years old juveniles. It is considered that they use the shallow water as a nursery ground until they move out to the deeper water. The number of species and abundance were lower in the fine sand Hakamp beach than in the muddy sand Yeonpo beach where some Zostera marina were also found. In Yeonpo beach the adult of Gymnogobius mororanus preferred to live in the muddy shallow water and Syngnathus schlegeli living in the sea grass were also abundantly collected in spring in addition to resident fish and pelagic migrants in warm months. The resident species were more abundance in the Taean beach than in the beach located in the southern part of the west coast of Korea where the juveniles of pelagic migrants were more abundant.

A Study of the Health Promoting Life Style in Rural Area (일부 농촌주민의 건강증진 생활양식 수행정도)

  • Jung, Young-Ok;Kim, Sang-Soon
    • Journal of agricultural medicine and community health
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    • v.20 no.2
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    • pp.133-148
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    • 1995
  • This study was to identify the factors affecting the performance in health promoting lifestyle and measuring health promoting lifestyle. The subjects for this study were all adult in rural area, Kakbuk Nyun, Chung-do Gun, Kyungpook, Korea. The data were collected during the period from April 1 to April 30, 1995. The instruments used for this study were the health promoting lifestyle by Park(1995). The results of this study are as follows. Health condition felt by the subjects was worse in female group and was getting worse according as the age increase. According to health promoting life style implementation questionnaire, more than half of the subjects responded "never" in deep breathing 3 times a day item and non-smoking item; more than half of the subjects responded "yes" in 3 meal a day item, home-cooked meals item, never to omit breakfast item and frequent wearing of cotton underwear item. Health promoting life style implementation by health condition is higher in healthy group and frequency of consulting a specialist is higher in unhealthy group. Health promoting life style implementation by sex is higher in male group. Frequency, of consulting a specialist and non-excessive drinking are higher in female group. Health promoting life style implementation by age showed that the implementation of never omitting breakfast, keeping early hours and proper sleeping is higher in old age group ; that of enjoying hobby, pastime, cleaning as well as reading health books is higher in young age group. Health promoting life style implementation by religion showed that the implementation of deep breathing 3 times more a day, regular checking of blood pressure, never having non-healthful food and keeping right posture in sitting and standing is higher in religion group. Health promoting life style implementation by education is higher in highly-educated group ; the implementation of keeping early hours is higher in low-educated group. Health promoting life style implementation by marriage state showed that the implementation of deep breathing 3 times more a day, twenty minutes of brisk physical movement three or four times a week, enjoying his or her own time, relaxation to relieve from tension and pressure and equalized movement of each part of body is higher in unmarred group ; that of having elaborately cooked food, never omitting three meals a day and keeping early hours is higher in married group. Health promoting life style implementation by the number of family members showed that more-member-group has more plans and objectives for their future. Health promoting life style implementation by family type showed that the implementation of reading health books and articles, living with positive way of thinking and enjoying favorite hobby in pastime is higher in nuclear families ; that of having three meals a day never omitting breakfast is higher in large families.

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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.