• Title/Summary/Keyword: 곤란도

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A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant, Each in cis Formation (Pseudodeficiency 및 potential late onset Pompe disease 보인자로 확인된 cis형 dual variant 돌연변이 두 개를 가진 여아 1례)

  • Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.2
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    • pp.58-62
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    • 2022
  • Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.

Viral Load Dynamics After Symptomatic COVID-19 in Children With Underlying Malignancies During the Omicron Wave

  • Ye Ji Kim;Hyun Mi Kang;In Young Yoo;Jae Won Yoo;Seong Koo Kim;Jae Wook Lee;Dong Gun Lee;Nack-Gyun Chung;Yeon-Joon Park;Dae Chul Jeong;Bin Cho
    • Pediatric Infection and Vaccine
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    • v.30 no.2
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    • pp.73-83
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    • 2023
  • Purpose: This study aimed to investigate the viral load dynamics in children with underlying malignancies diagnosed with symptomatic coronavirus disease 2019 (COVID-19). Methods: This was a retrospective longitudinal cohort study of patients <19 years old with underlying hemato-oncologic malignancies that were diagnosed with their first symptomatic severe acute respiratory syndrome coronavirus 2 polymerase chain reaction (PCR)-confirmed COVID-19 infection during March 1 to August 30, 2022. Review of electronic medical records and telephone surveys were undertaken to assess the clinical presentations and transmission route of the patients. Thresholds of negligible likelihood of infectious virus was defined as E gene reverse transcription (RT)-PCR cycle threshold (Ct) value ≥25. Results: During the 6-month study period, a total of 43 children with 44 episodes of COVID-19 were included. Of the 44 episodes, the median age of the patients included was 8 years old (interquartile range [IQR], 4.9-10.5), and the most common underlying disease was acute lymphoid leukemia (n=30, 68.2%), followed by patients post-hematopoietic stem cell transplantation (n=8, 18.2%). Majority of the patients had mild COVID-19 (n=32, 72.7%), and three patients (7.0%) had severe/critical COVID-19. Furthermore, 2.3% (n=1) died of COVID-19 associated acute respiratory distress syndrome. The largest percentage of the patients showed E gene RT-PCR Ct value ≥25 between 15-21 days (n=13, 39.4%), followed by 22-28 days (n=10, 30.3%). In 15.2% (n=5), E gene RT-PCR Ct value remained <25 beyond 28 days after initial positive PCR. Refractory malignancy status (β, 67.0; 95% confidence interval, 7.0-17.0; P=0.030) was significantly associated with prolonged duration of E gene RT-PCR <25. A patient with prolonged duration of E gene RT-PCR Ct value <25 was suspected to have infectivity shown by the transmission of the virus to his mother at day 86 after his initial positive test. Conclusions: Children that acquire symptomatic COVID-19 during refractory malignancy state are at a high risk for prolonged shedding warranting PCR-based transmission precautions in this cohort of patients.

A Study on the Memory of the Korean War and the Representation of the Play-Focused on Shin Myung-soon's (한국 전쟁에 대한 기억과 연극의 재현 양상 -신명순의 <증인>을 중심으로)

  • Kim, Tae-hee
    • (The) Research of the performance art and culture
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    • no.43
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    • pp.145-172
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    • 2021
  • Shin Myung-soon's is based on the taboo 'bombing of the Han River Bridge'. The reality of the bombing of the Han River Bridge in 1950 and the shooting of Colonel Choi Chang-sik was known only as a word of mouth. At that time, the ruling class did not want to reveal the painful mistakes of the unfavorable war situation in the early days of the war and the false broadcasting of the president. The truth of the case, which was kept completely secret even to the bereaved family, could only be revealed after the regime change. After that, the bereaved family of Colonel Choi Chang-sik confirmed the innocence of the deceased through a request for retrial, and then the was born. However, the fate of was not so smooth. At the time, the performance officials vividly remember the difficulties they had with the text. Despite passing the pre-screening of the script, the performance was canceled just before the performance. The fact that the National Theater, officials from the Ministry of Culture and Education, and even military generals visited the practice room to stop the performance, on the contrary, was a testimony to the dangers of . It can be summarized as a crack in official history and a move to stop it. was later adapted into a special TV drama in 1981 and was first released to the public. This was a very meaningful step in terms of dealing with politically sensitive subjects on television, but the inconsistency of in the first place has largely disappeared. After that, in 1988, only after democracy entered the phase of appeasement, could be performed in its full form. In short, can be said to be an example of a process in which the history of the Korean War recorded from the standpoint of an established order and the counter-memory that crack it up are transformed according to the changes of the times and media.

A Study on Conceptual Suitability or Unfitness of 'Silhak' ('실학實學' 개념의 적합성 또는 부적합성에 관한 연구)

  • Kang, Jeong-Hoo
    • Journal of Ethics
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    • no.88
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    • pp.103-122
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    • 2013
  • This paper aims to study on conceptual suitability or unfitness of Silhak(實學). It is general that by criticizing Chujahak(朱子學) or beyond the limitation of Seonglihak(性理學), Silhak has developed practical tendency to reforming the society in the middle and end of Chosen Dynasty, related to the context of Korean national reflection in modern times. However, it is unfortunate to be understood. As presented in Chosenwangjosillok(『朝鮮王朝實錄』), there has been a few usages in the term 'Silhak'. In short, it was different from its contemporary meaning. At that time, it was usually used to have the meaning of Gyunghak(經學), compared to Sajanghak(詞章學), or rarely, of 'the true study' or 'the practical study'. Therefore, it is to claim that its conception has been manipulated or exaggerated very seriously. Since 1930s, in particular, its conception has been misused in interpreting works of Jung Yak-Yong by some scholars, such as Jung In-Bo, Moon Il-Pyung and An Jae-Hong, who tried to apply the term to overcome the Japanese colonial era symbolised as modernity based on the future life of Korea. Even though their attempt has led to have crucial discussions on the conceptions of Silhak, it has an unnecessary result that there has been a new and totally different understanding of Silhak in South Korea, North Korea, China, Japan, etc., which means that the unsustainable conception of Silhak has been one of major problems in studying of Silhak. To give an practical solution, I would try to make sense of 'time spirit' whose scholars studied Silhak in the middle and end of Chosen Dynasty. A problem, however, is that a scholar group in the name of Bukhakpa(北學派) had certain links and bonds. This is because many scholars studying of Silhak were usually features out of the main stream, which made them it difficult to form any various groups. That is to say, it seems to be natural that they have dreamed of utopian imaginations less than of overlapping points in reality. To sum up, it would be concluded at least that any approach to human lives and thoughts in the given conceptions of Silhak, e.g. ethical thoughts of Silhak, enables us to be indifferentiated to take its true meaning and time spirit of Chosen Dynasty. To be disenchanted of its social roles in Chosen Dynasty, fundamentally, it should be escaped from the wrong net of illusions and sings in understanding Silhak in certain eclectic steps.

A Study on the Relationship of Wounds in the Growth Period, Inferiority Complex, Personality Disorder and Mental-Health among Secondary Students (중·고등학생의 성장과정 상처와 열등감, 성격장애, 정신건강과의 관계 연구)

  • Man-pyo Lee
    • Korean Journal of Culture and Social Issue
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    • v.18 no.4
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    • pp.505-532
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    • 2012
  • The purpose of this study was to examine the relationship among the growth period wounds, inferiority complex and personality disorder of teenaged students, which affected their mental health. The subjects in this study were 2,110 secondary students. After a survey was conducted, the collected data were analyzed. Whether there would be any differences among the adolescents in those factors were analyzed, and multiple regression analysis and path analysis were carried out. As a result, there were relatively more significant problems with the growth period wounds, inferiority complex, personality disorder and mental health of the students who were girls, who were high schoolers, whose household economy was more vulnerable and whose academic standing was lower. The growth period wound that exerted the largest significant influence on inferiority complex was happiness, followed by wound of security and wound of recognition, and the growth period wound that had the greatest significant impact on personality disorder was happiness, followed by wound of security, wound of confidence, wound of love and wound of equity. The growth period wound that exercised the biggest influence on mental health was happiness, followed by wound of security, wound of confidence, wound of love and wound of equity. As for the influence of the variables related to mental health, the indirect effects of the growth period wounds through personality disorder and inferiority complex were greater than their direct effects. The findings of the study suggest that growth period wounds are likely to lead to inferiority complex and personality disorder and ultimately to the injury of mental health, and indicate the importance of healthy family environments and of educational environments in the growth period.and mental health was analyzed, there was a statistically significant positive(+) correlation among all the variables. Third, the wound factors related to happiness and stability were identified as the factors that affected inferiority complex among the growth period wound factors. Personality disorder was found to be under the influence of the wound factors related to happiness, stability, love, confidence and a sense of equality in the growth period, and mental health was found to be affected by the wound factors related to happiness, stability, confidence, love and a sense of equality. Fourth, the growth period wounds had a direct impact on mental health, and inferiority complex played a significant mediating role at that time. Every subfactor of personality disorder also produced significant mediating effects except the wound factor of pride. The above-mentioned findings suggest that every possible effort should be made to let secondary students get hurt less to promote their mental health and resolve their mental health problems, and that professional counseling intervention and institutional assistance are required to help them to remove their inferiority complex and personality disorder.

Impact of Gender Differences in Elderly Patients with Acute Myocardial Infarction (고령의 급성 심근경색증 환자에서 성별에 따른 영향)

  • Seol, Soo Young;Jeong, Myung Ho;Lee, Seung Hun;Sohn, Seok-Joon;Cho, Jae Yeong;Kim, Min Chul;Sim, Doo Sun;Hong, Young Joon;Park, Hyung Wook;Kim, Ju Han;Ahn, Youngkeun;Cho, Jeong Gwan;Park, Jong Chun
    • The Korean Journal of Medicine
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    • v.94 no.1
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    • pp.96-106
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    • 2019
  • Background/Aims: It is well known that gender differences are associated with clinical outcomes in patients with acute myocardial infarction (AMI). However, it is not clear whether gender differences affect the prognosis of elderly patients with AMI. Methods: We analyzed the incidence of in-hospital complications and mortality in the Korea Acute Myocardial Infarction Registry-National Institutes of Health from November 2011 to June 2015. This study included elderly patients (≥ 75 years) diagnosed with AMI. Results: A total of 2,953 patients were eligible for this study. Among them, 1,529 (51.8%) patients were female, and the mean age of the female group was older than that of the male group (80.7 ± 4.4 vs. 79.6 ± 4.0 years, respectively, p < 0.001). Elderly females utilized emergency medical services less frequently compared with elderly males (11.5 vs. 15.4%, respectively, p < 0.001). Elderly female AMI patients had a similar rate of in-hospital mortality compared with elderly males (7.1 vs. 8.4%, respectively, p = 0.196). The rate of major cardiac adverse events (MACEs) was lower in elderly females than males during a 12-month follow-up (hazard ratio [HR] 1.19, 95% confidence interval [CI] 1.00-1.41, p = 0.045). According to multivariate analysis, the male gender is an independent factor for predicting 1-year MACEs (HR 1.37, 95% CI 1.14-1.65, p < 0.001). Conclusions: No significant differences in peri-procedural complications or in-hospital mortality were observed between male and female elderly patients with AMI. However, elderly female patients had a more favorable prognosis than male patients during a 1-year clinical follow-up.

Situation of Geological Occurrences and Utilization, and Research Trends of North Korean Coal Resources (북한 석탄 자원의 부존 및 활용현황과 연구동향)

  • Sang-Mo Koh;Bum Han Lee;Otgon-Erdene Davaasuren
    • Economic and Environmental Geology
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    • v.57 no.3
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    • pp.281-292
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    • 2024
  • North Korea relies heavily on coal as the primary energy source, playing an important role in all energy demand sectors except for the transportation sector. Approximately half of the total electricity is generated through coal-fired power plants, and coal is used to produce heat and power for all industrial facilities. Furthermore, coal has been a significant contributor to earning foreign currency through long-term exports to China. Nevertheless, since the 1980s, indiscriminate mining activities have led to rapid depletion of coal production in most coal mines. Aging mine facilities, lack of investment in new equipment, shortages of fuel and electricity, difficulties in material supply, and frequent damage from flooding have collectively contributed to a noticeable decline in coal production since the late 1980s. North Korea's coal deposits are distributed in various geological formations from the Proterozoic to the Cenozoic, but the most critical coal-bearing formations are Ripsok and Sadong formations distributed in the Pyeongnam Basin of the Late Paleozoic from Carboniferous to Permian, which are called as Pyeongnam North and South Coal Fields. Over 90% of North Korea's coal is produced in these coal fields. The classification of coal in North Korea differs from the international classification based on coalification (peat, lignite, sub-bituminous coal, bituminous coal, and anthracite). North Korean classification based on industrial aspect is classified into bituminous coal, anthracite, and low-grade coal (Chomuyeontan). Based on the energy factor, it is classified into high-calorie coal, medium calorie coal, and low-calorie coal. In North Korea, the term "Chomuyeontan" refers to a type of coal that is not classified globally and is unique to North Korea. It is a low-grade coal exclusively used in North Korea and is not found or used in any other country worldwide. This article compares North Korea's coal classification and the international coal classification of coal and provides insights into the geological characteristics, reserves, utilization, and research trends of North Korean coal resources. This study could serve as a guide for preparing scientific and industrial agendas related to coal collaboration between North Korea and South Korea.

Chest CT Findings of COVID-19 Patients with Mild Clinical Symptoms at a Single Hospital in Korea (경증의 임상 소견을 보이는 COVID-19 환자들의 흉부 CT 소견)

  • Woon Young Baek;Young Kyung Lee;Suhyun Kim;Chorom Hahm;Mi Young Ahn;Dong Hyun Oh;Jae-Phil Choi
    • Journal of the Korean Society of Radiology
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    • v.82 no.1
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    • pp.139-151
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    • 2021
  • Purpose To retrospectively evaluate the chest computed tomography (CT) findings of coronavirus disease 2019 (COVID-19) in patients with mild clinical symptoms at a single hospital in South Korea. Materials and Methods CT scans of 87 COVID-19 patients [43 men and 44 women; median age: 41 years (interquartile range: 26.1-51.0 years)] with mild clinical symptoms (fever < 38℃ and no dyspnea) were evaluated. Results CT findings were normal in 39 (44.8%) and abnormal in 48 (55.2%) patients. Among the 48 patients with lung opacities, 17 (35.4%) had unilateral disease and 31 (64.6%) had bilateral disease. One (2.1%) patient showed subpleural distribution, 9 (18.8%) showed peribronchovascular distribution, and 38 (79.2%) showed subpleural and peribronchovascular distributions. Twenty-two (45.8%) patients had pure ground-glass opacities (GGOs) with no consolidation, 17 (35.4%) had mixed opacities dominated by GGOs, and 9 (18.8%) had mixed opacities dominated by consolidation. No patients demonstrated consolidation without GGOs. Conclusion The most common CT finding of COVID-19 in patients with mild clinical symptoms was bilateral multiple GGO-dominant lesions with subpleural and peribronchovascular distribution and lower lung predilection. The initial chest CT of almost half of COVID-19 patients with mild clinical symptoms showed no lung parenchymal lesions. Compared to relatively severe cases, mild cases were more likely to manifest as unilateral disease with pure GGOs or GGO-dominant mixed opacities and less likely to show air bronchogram.

The causative organisms of pediatric empyema in Korea (소아 농흉 원인균에 대한 다기관 연구(1999. 9-2004. 8))

  • Yum, Hye-yung;Kim, Woo Kyung;Kim, Jin Tak;Kim, Hyun Hee;Rha, Yeong Ho;Park, Yong Min;Sohn, Myung Hyun;Ahn, Kang Mo;Lee, Soo Young;Hong, Su Jong;Lee, Hae Ran
    • Clinical and Experimental Pediatrics
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    • v.50 no.1
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    • pp.33-39
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    • 2007
  • Purpose : In spite of medical advances, empyema is a serious complication of pneumonia in children. Vaccination practices and antibiotic prescribing practices promote the change of clinical manifestations of empyema and causative organisms. So we made a nationwide clinical observation of 122 cases of empyema in children from 32 hospitals during the 5 year period from September 1999 to August 2004. Methods : Demographic data, and clinical information on the course and management of empyema patients were collected retrospectively from medical records in secondary and tertiary hospitals in Korea. Results : One hundred twenty two patients were enrolled from 35 hospitals. The most frequent age group was 1-3 years, accounting for 48 percent of all cases. The male to female sex ratio was 1.2:1. The main symptoms were cough, fever, respiratory difficulty, lethargy and chest pain in order of frequency. Hematologic findings on admission revealed decreased hemoglobin levels ($10.4{\pm}1.6g/dL$) and increased leukocyte counts ($16,234.3{\pm}10,601.8/{\mu}L$). Pleural fluid obtained from patients showed high leukocyte counts ($30,365.8{\pm}64,073.0/{\mu}L$), high protein levels ($522.3{\pm}1582.3g/dL$), and low glucose levels ($88.1{\pm}523.5mg/dL$). Findings from pleural fluid cultures were positive in 80 cases(65.6 percent). The most common causative agent was Streptococcus pneumoniae. The majority of patients were treated with antibiotics and closed drainage. Some patients needed open drainage (16.4 percent) or decortication (3.3 percent). The mean duration of hospitalization was $28.6{\pm}15.3days$. Conclusion : We analyzed childhood empyema patients during a period of 5 years in Korean children. The most frequent age group was 1-3 years and the most common causative agent was Streptococcus pneumoniaeiae. The majority of patients were treated with antibiotics and close drainage.

Diffuse Panbronchiolitis : Clinical Significance of High-resolution CT and Radioaerosol Scan Manifestations (미만성 범세기관지염에서 흉부 고해상도 전산화 단층촬영의 임상적의의 및 폐환기주사 소견)

  • Song, So Hyang;Kim, Hui Jung;Kim, Young Kyoon;Moon, Hwa Sik;Song, Jeong Sup;Park, Sung Hak;Kim, Hak Hee;Chung, Soo Kyo
    • Tuberculosis and Respiratory Diseases
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    • v.44 no.1
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    • pp.124-135
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    • 1997
  • Background : Diffuse panbronchiolitis(DPB) is a disease characterized clinically by chronic cough, expectoration and dyspnea; and histologically by chronic inflammation localized mainly in the region of the respiratory bronchiole. It is prevalent in Japanese, but is known to be rare in Americans and Europians. Only a few cases in Chinese, Italians, North Americans and Koreans have been reported. It is diagnosed by characteristic clinical, radiological and pathologic features. High-resolution CT(HRCT) is known to be valuable in the study of the disease process and response to therapy in DPB. To our knowledge, there has been no correlation of its appearance on HRCT with the severity of the disease process, and radioaerosol scan(RAS) of the lung has not previously been used for the diagnosis of DPB. Method : During recent two years we have found 12 cases of DPB in Kangnam St. Mary's Hospital, Catholic University Medical College. We analysed the clinical characteristics, compared HRCT classifications with clinical stages of DPB, and determined characteristic RAS manifestations of DPB. Results : 1. The ages ranged from 31 to 83 years old(mean 54.5 years old), and male female ratio was 4:8. 75%(9/12) of patients had paranasal sinusitis, and only one patient was a smoker. 2. The patients were assigned to one of three clinical stages of DPB on the basis of clinical findings, sputum bacterology and arterial blood gas analysis. of 12 cases, 5 were in the first stage, 4 were in the second stage, and 3 were in the third stage. In most of the patients, pulmonary function tests showed marked obstructive and slight restrictive impairments. Sputum culture yielded P.aeruginosa in 3 cases of our 12 cases, K.pneumoniae in 2 cases, H.influenzae in 2 cases, and S.aureus in 2 cases. 3. Of 12 patients, none had stage I characteristics as classified on HRCT scans, 4 had slage II findings, 5 had stage III findings, and 3 had stage IV characteristics. 4. We peformed RAS in 7 of 12 patients With DPB. In 71.4% (5/7) of the patients, RAS showed mottled aerosol deposits characteristically in the transitional and intermediary airways with peripheral airspace defects, which contrasted sharply with central aerosol deposition of COPD. 5. There were significant correlations between HRCT stages and clinical stages(r= 0.614, P < 0.05), between HRCT types and Pa02(r= -0.614, P < 0.05), and between HRCT types and ESR(r= 0.618, P < 0.01). Conclusion : The HRCT classifications correspond well to the clinical stage. Therfore in the examination of patients with DPB, HRCT is useful in the evaluation of both the location and severity of the lesions. Also, RAS apears to be a convenient, noninvasive and useful diagnostic method of DPB.

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