• Title/Summary/Keyword: 보조

Search Result 6,737, Processing Time 0.038 seconds

A Case Report of Novel Mutation in GNPTAB in Two Siblings with Mucolipidosis Type III Alpha/beta (GNPTAB 유전자에서 새로운 돌연변이가 확인된 뮤코지방증 III형 남매)

  • Kim, Min-Sun;Park, Esther;Song, Ari;Im, Minji;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.18 no.3
    • /
    • pp.99-106
    • /
    • 2018
  • Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

  • PDF

Methods of Record Management for Head of Local Government (광역자치단체장의 기록 관리 방안 연구)

  • Lee, Young-eun
    • The Korean Journal of Archival Studies
    • /
    • no.27
    • /
    • pp.35-88
    • /
    • 2011
  • This study suggested the methods of record management for the heads of local government, which would be the most valuable among local records. In order to conduct a systematic record management for the heads of local government, this study suggested the methods of establishing a record management system regarding regulation arrangement, production registration, preservation, utilization and services. First of all, in order to estimate the record category of the heads of local government, the study examined the duties of the offices of the deputy heads of local government, secretary's offices and information offices, which have been subsidiary & assistance branches in charge of producing the record. In addition, it investigated the present conditions of record management for the heads of local government through the interviews with secretary offices and information offices belonging to 16 cities and provinces and the claims for information disclosure and found out the following problems. They included incomplete record production, non-registration of produced records, abolition of records and taking them out of designated places with due notice, record preservation period regardless of the term of the heads of local government, varied preservation period for the records of the heads of local government by local self-government, short preservation period of primary records and non-management of home pages after the term of the heads of local government. To solve such problems, the study suggested the regulation arrangement for record management and a record management system. The regulation arrangement could be obtained through the establishment of the administrative organization setup condolence etiquette enforcement regulation and the recorders in local government and the revision of operation rules and through the revision of the reference plan for operation rules enactment of recorders from National Archives of Korea. As for the record management system, the study suggested the establishment of production, registration and preservation system of records for the heads of local government and the utilization and services of their records. In order to produce and register the records, the unit assignments should be founded by department in charge of the duties related to the records of the heads of local government on record management criteria, thus letting the staff surely produce and register the records. In terms of utilization and services of the records, the study suggested the use of websites and drawing up the record list, through which each record viewer would be able to figure out which records have been managed through the list services and which services could be given to the residents, thus letting the residents and the heads of local government who finished their term of duties use the records.

Development of Caregiver Guideline for Participation in Activities of Daily Living for the Elderly with Early Dementia: Focusing on the Delphi Survey (초기 치매 노인의 일상생활 참여 촉진을 위한 보호자 지침의 개발: 델파이 조사를 중심으로)

  • Kim, Seo-Eun;Koo, Seul-Gi;Park, Sang-M;Kim, Jung-Ran
    • 한국노년학
    • /
    • v.37 no.2
    • /
    • pp.461-474
    • /
    • 2017
  • The purpose of this study was to develop the caregiver guideline for participation in activities daily living for the elderly with early dementia in home including easily adaptable and professional strategies as early intervetion. The process of this study was 3 stage. First stage, the development of preliminary caregiver guideline as the first stage of this study was to translate to Korean and reclassify the items about caregiver guideline for participation from reports of foreign association or government related dementia, and it consisted of 3 areas, 128 statements for questionnaire for Delphi investigation. Second stage, the guideline was to conduct the content validity, and delete, reclassify, integrate, revise inappropriate items through 2 rounds and 16 Delphi panels. Third stage, the establishment of the final version of caregiver guideline. It consisted of 8 areas: home modification and assistive device, home activities of daily living, health management, communication, psycho-emotional support, leisure activities, social participation, general strategies. All 68 items was arranged in important order. The content validity, stability, agreement index in this study were 0.81, 0.15, 0.79 respectively. When content validity, stability was above 0.49, below 0.5 in Delphi survey with 15 panels, it was not required additional survey. The result of this study meaned that it was not required to additional Delphi survey, and the result was stable and agreeable. This developed guideline was useful and practical to maintain the elderly's with dementia independent and healthy life as education materials for their caregivers, so it will expect to decrease caregiver's burden. Lastly, it stated limitation and suggestion for further study.

Detection of Surface Changes by the 6th North Korea Nuclear Test Using High-resolution Satellite Imagery (고해상도 위성영상을 활용한 북한 6차 핵실험 이후 지표변화 관측)

  • Lee, Won-Jin;Sun, Jongsun;Jung, Hyung-Sup;Park, Sun-Cheon;Lee, Duk Kee;Oh, Kwan-Young
    • Korean Journal of Remote Sensing
    • /
    • v.34 no.6_4
    • /
    • pp.1479-1488
    • /
    • 2018
  • On September 3rd 2017, strong artificial seismic signals from North Korea were detected in KMA (Korea Meteorological Administration) seismic network. The location of the epicenter was estimated to be Punggye-ri nuclear test site and it was the most powerful to date. The event was not studied well due to accessibility and geodetic measurements. Therefore, we used remote sensing data to analyze surface changes around Mt. Mantap area. First of all, we tried to detect surface deformation using InSAR method with Advanced Land Observation Satellite-2 (ALOS-2). Even though ALOS-2 data used L-band long wavelength, it was not working well for this particular case because of decorrelation on interferogram. The main reason would be large deformation near the Mt. Mantap area. To overcome this limitation of decorrelation, we applied offset tracking method to measure deformation. However, this method is affected by window kernel size. So we applied various window sizes from 32 to 224 in 16 steps. We could retrieve 2D surface deformation of about 3 m in maximum in the west side of Mt. Mantap. Second, we used Pleiadas-A/B high resolution satellite optical images which were acquired before and after the 6th nuclear test. We detected widespread surface damage around the top of Mt. Mantap such as landslide and suspected collapse area. This phenomenon may be caused by a very strong underground nuclear explosion test. High-resolution satellite images could be used to analyze non-accessible area.

Aspects of Korean and English Translation of 'KURERU' in the Novel - about NATSUMESOSEKI 『KOKORO』 (소설 속의 'くれる類'동사에 대한 한국어와 영어의 번역양상 - 하목수석(夏目漱石)의 『こころ』를 중심으로 -)

  • Yang, Jungsoon
    • Cross-Cultural Studies
    • /
    • v.46
    • /
    • pp.327-353
    • /
    • 2017
  • This study analyzed how an aspect of translation can be shown on the 'Kureru type(くれる類)' verbs in "Kokoro", which was a Japanese modern novel when it was reproduced by translators. It focused on 'the use in accordance with a subject of expression and the other person' and 'the object of movement'. 'The use in accordance with a subject of expression and the other person' could be summarized as follows: The 'Kureru type' verbs were not translated only in accordance with the use of vocabulary in a dictionary. 'Kudasaru' was used in many examples of letter writing when 'the giver' was younger and it was translated to a polite form in Korean. 'Kureru' had a characteristic when 'the giver' was older in Korean translation. The act of parents was translated to an honorific form if parents were 'givers' regardless of whether a listener was an internal character or an external character in parent-child relationships. The degree of politeness was different in English translation when the 'Kureru type' verbs were used for asking a favor request command. 'Please' was used more for 'Kudasaru' than 'Kureru'. An aspect of translation in accordance with 'the object of movement' could be summarized as follows: The 'Kureru type' verbs were used as main verbs. 'Kureru' and 'Kudasaru' were translated to 'Juda' 'Jusida' in Korean translation, but they were translated to various vocabulary words in accordance with the characteristic of 'the object of movement' and were translated to imply a specific act, the process of possession and the result of possession in English translation. The 'Kureru type' verbs were also used as auxiliary verbs. The translated vocabulary words for Korean translation and English translation were different in accordance with whether the movement of things other than the movement of act was included or not. Examples were translated predominantly to expressions of profit such as '-Jada' '-Dalla' '-Jusida' when there was a movement of act as well as specific things in Korean translation. Also, some examples were translated to expressions of profit when there was the movement of act with an abstract matter and there was only the act of the object of movement, but many examples were translated to the act of first verbs. Examples were translated predominantly to the act of first verbs when there was the movement which included specific things and abstract matters or there was only the movement of act in English translation. Expressions of asking a favor request such as 'Kureru' and 'Kudasaru' were translated to '-Dalla' '-Juseyo' in Korean translation, but they were translated to expressions which specify an act while focusing on the structure of sentences or the function of language, such as 'must', 'ask', 'wish', 'would', and 'would like to' 'please' in English translation.

A Study on the Records Management for the National Assembly Members (국회의원 기록관리 방안 연구)

  • Kim, Jang-hwan
    • The Korean Journal of Archival Studies
    • /
    • no.55
    • /
    • pp.39-71
    • /
    • 2018
  • The purpose of this study is to examine the reality of the records management of the National Assembly members and suggest a desirable alternative. Until the Public Records Management Act was enacted in 1999, the level of the records management in the National Assembly was not beyond that of the document management in both the administration and the legislature. Rather, the National Assembly has maintained a records management tradition that systematically manages the minutes and bills since the Constitutional Assembly. After the Act was legislated in 2000, the National Assembly Records Management Regulation was enacted and enforced, and the Archives was established in the form of a subsidiary organ of the Secretariat of the National Assembly, even though its establishment is not obligatory. In addition, for the first time, an archivist was assigned as a records and archives researcher in Korea, whose role is to respond quickly in accordance with the records schedule of the National Assembly, making its service faster than that of the administration. However, the power of the records management of the National Assembly Archives at the time of the Secretariat of the National Assembly was greatly reduced, so the revision of the regulations in accordance with the revised Act in 2007 was not completed until 2011. In the case of the National Assembly, the direct influence of the executive branch was insignificant. As the National Assembly had little direct influence on the administration, it had little positive influence on records management innovation under Roh Moo-Hyun Administration. Even within the National Assembly, the records management observed by its members is insignificant both in practice and in theory. As the National Assembly members are excluded from the Act, there is no legal basis to enforce a records management method upon them. In this study, we analyze the records management problem of the National Assembly members, which mainly concerns the National Assembly records management plan established in the National Archives. Moreover, this study proposes three kinds of records management methods for the National Assembly members, namely, the legislation and revision of regulations, the records management consulting of the National Assembly members, and the transfer of the dataset of administrative information systems and websites.

Water Quality Monitoring of the Ecological Pond Constructed by LID Technique in Idle Space (유휴 공간에 LID 기법을 활용한 생태연못의 수질 모니터링)

  • Ahn, Chang-Hyuk;Song, Ho-Myeon;Park, Joon-Ha;Park, Jum-Ok;Park, Jae-Roh
    • Journal of Environmental Impact Assessment
    • /
    • v.27 no.6
    • /
    • pp.674-684
    • /
    • 2018
  • The purpose of this study is to construct ecological pond using LID technique in order to create naturally comfortable community space in urban idle space. The specification of the ecological pond is $110m^2$ of surface area, $0.45{\pm}0.02m$ of average depth, and bed material is composed of gravel (diameter ${\leq}60mm$), sand (diameter ${\leq}2mm$) and bentonite. Rainfall and water depth monitoring were conducted to determine the annual characteristics of inflow of the water for the ecological pond, result of total rainfall was 1,287 mm and showed a seasonal imbalance that accounted for 71.3% (918 mm) during July to August, but the annual mean water depth was kept constant at $0.45{\pm}0.02m$ due to the secondary water source. Annual trends of basic water quality showed a significant changes according to the season, such as water temperature ($5.2{\sim}28.8^{\circ}C$), DO (5.0 ~ 13.8 mg/L), EC ($113{\sim}265{\mu}S/cm$). BOD, COD, TN, and TP in physicochemical water quality tended to increase after October, but the ion parameters such as $NH_3$ and $PO_4{^{3-}}$ were generally low. Phytoplankton indicators Chl-a and BGA (blue green algae) showed a sharp increase from July to August, and green algae (Selenastrum bibraianum, Pediastrum boryanum etc.) and filamentous blue green algae (Phormidium sp.) emerged as a dominant species. The ion parameters ($F^-$, $Na^+$, $K^+$, $Mg^{2+}$, $Ca^{2+}$) were strongly correlated with the $Cl^-$ as a conservative substance (R=0.70~0.97, p<0.05). Water quality was influenced by the ambient environment such as seasonal changes or rainfall, and it was closely related to fluctuation of the inflow of the water. In the future, it is necessary to consider ecological connections by referring to the characteristics surveyed in this study in order to effectively manage the water quality and biodiversity of the ecological pond in idle space.

Illness Experiences and Palliative Care Needs in Community Dwelling Persons with Cardiometabolic Diseases (심혈관대사질환이 있는 지역사회 거주 환자의 질환경험 및 완화의료 요구)

  • Cha, EunSeok;Lee, JaeHwan;Lee, KangWook;Hwang, Yujin
    • Journal of Hospice and Palliative Care
    • /
    • v.22 no.1
    • /
    • pp.8-18
    • /
    • 2019
  • Purpose: This study was conducted to better understand the illness experiences and palliative care needs in community-dwelling persons with cardiometabolic diseases. Methods: This qualitative descriptive study was conducted with 11 patients (and three family members) among 28 patients contacted. Interviews were led by the principal investigator in her office or at participants' home depending on their preference. All interviews were digitally recorded and transcribed by a research assistant. The interviews were analyzed by two independent researchers using a conventional method. Results: Participants' ages ranged from 42 to 82 years (nine men and two women). Three themes were identified: (1) same disease, but different illness experiences; (2) I am in charge of my disease(s); (3) preparation for disease progression. Participants were informed of the name of their disease when they were diagnosed, but not provided with explanation of the diagnosis or meant or how to do self-care to delay the disease progression, which increased the feelings of uncertainty, hopelessness and anxiety. Taking medication was considered to be the primary treatment option and self-care a supplemental one. Advanced care plans were considered when they felt the progression of their disease(s) while refraining from sharing it with their family or health care professionals to save their concerns. All participants were willing to withhold life-sustaining treatment without making any preparation in writing. Conclusion: Education on self-care and advanced care planning should be provided to community-dwelling persons with cardiometabolic diseases. A patient-centered education program needs to be developed for this population.

The Structual Restoration on Gyeongju-Style Piled Stone-Type Wooden Chamber Tombs (경주식 적석목곽묘의 구조복원 재고)

  • Gweon, Yong Dae
    • Korean Journal of Heritage: History & Science
    • /
    • v.42 no.3
    • /
    • pp.66-87
    • /
    • 2009
  • The definition of the structure of wooden chamber tomb(piled stone-type) is as follows. It is a tomb with wooden chamber, and stones were piled on top of the wooden chamber, and then a wooden structure was placed on top of the piled stones, and more stones were piled on top of the wooden structure, and sealed with clay. Of course this definition can vary according to periods, the buried, etc. Gyeongju-style piled stone type wooden chamber tombs have some distinguished characteristics compared to general definition of piled stone type wooden chamber tombs. Outside the wooden chamber, either stone embankments or filled-in stones were layed out, and pilet-in stones are positioned right above the wooden chamber, and almost every class used this type, and finally, it is exclusively found in Gyeongju area. First generations of this Gyeongju-style piled stone type wooden chamber tombs appeared in first half of 5th century. These tombs inherited characteristics like ground plan, wooden chamber, double chamber(inner chamber and outer chamber), piled stones, burial of the living with the dead, piled stones, from precedent wooden chamber tombs. However these tombs have explicit new characteristics which are not found in the precedent wooden chamber tombs such as stone embankments, wooden pillars, piled stones(above ground level), soil tumuluses. stone embankments and wooden pillars are exclusively found on great piled stone type above-ground level wooden chamber tombs such as the Hwangnamdaechong(皇南大塚). Stone embankments, wooden pillars, piled stones(above ground level) are all elements of building process of soil tumuluses. stone embankments support outer wall of above-ground level wooden chambers and disperse the weight of tumuluses. Wooden pillars functioned as auxiliary supports with wooden structures to prevent the collapse of stone embankments. Piled stones are consists of stones of regular size, placed on the wooden structure. And after the piled stones were sealed with clay, tumulus was built with soil. Piled stones are unique characteristics which reflects the environment of Gyeongju area. Piled stone type wooden chamber tombs are located on the vast and plain river basin of Hyeongsan river(兄山江). Which makes vast source of sands and pebbles. Therefore, tumulus of these tombs contains large amount of sands and are prone to collapse if soil tumulus was built directly on the wooden structure. Consequently, to maintain external shape of the tumulus and to prevent collapse of inner structure, piled stones and clay-sealing was made. In this way, they can prevent total collapse of the tombs even if the tumulus was washed away. The soil tumulus is a characteristic which emerges when a nation or political entity reaches certain growing stage. It can be said that after birth of a nation, growing stage follows and social structure will change, and a newly emerged ruling class starts building new tombs, instead of precedent wooden chamber tombs. In this process, soil tumulus was built and the size and structure of the tombs differ according to the ruling class. Ground plan, stone embankments, number of the persons buried alive with the dead, quantity and quality of artifacts reflect social status of the ruling class. In conclusion, Gyeongju-style piled stone type wooden chamber tombs emerged with different characteristics from the precedent wooden chamber tombs when Shilla reached growing stage.

Effects of l-arginine supplementation with high-intensity training on muscle damage and fatigue index and athletic performance in Canoe Athletes (L-arginine 섭취가 고강도 훈련 프로그램에 따른 카누선수의 근 손상 지표, 피로 물질 및 경기력 향상에 미치는 영향)

  • Jung, Jong-Hwan;Kang, Eun-Bum;Kim, Chang-Hwan
    • Journal of the Korean Applied Science and Technology
    • /
    • v.36 no.3
    • /
    • pp.942-953
    • /
    • 2019
  • The objective of this study was to evaluate the effects of L-arginine supplementation on muscle damage and fatigue indices and athletic performance improvement of canoe athletes after conducting a high-intensity training program. To achieve the objective, this study applied a high-intensity training program to seven high school canoe athletes. The high-intensity training program is composed of aerobic exercise sessions (twice per week; Tuesday and Thursday), anaerobic exercise sessions (three times per week; Monday, Wednesday, and Friday), and flexibility exercise sessions (five times per week). During the 6 week high-intensity training program, drug ingestion (L-arginine or placebo) was conducted in the first two weeks, wash out (two weeks) followed it, and drug ingestion (L-arginine or placebo) was carried out again in the last two weeks. The crossover design was used for the experiment so all study subjects were assigned to either the L-arginine intake group (the treatment group) or the placebo group (the control group). Each subject ingested 3g per day. This study confirmed the significant effects of L-arginine supplementation on muscle damage indices, fatigue indices, and antioxidants using blood samples. Additionally, FMD was analyzed to evaluate vascular endothelial cell functions and canoe performance was examined using the canoe ergometer. The results of this study showed that L-arginine intake did not have direct effects on the levels of ammonia, IP, and CK. The level of LDH decreased significantly more in the ARG group than in the PLA group due to L-arginine supplementation. Moreover, L-arginine supplementation did not change total NO, d-ROMs, BAP, and FMD significantly. Lastly, the results of the 500m canoe ergometer, which was conducted to evaluate the canoe performance, revealed that L-arginine did not have direct effects on total time, stroke distance, and mean velocity. However, L-arginine supplementation significantly improved muscle damage indices, fatigue indices, antioxidants, FMD, and canoe performance. Therefore, it is believed that additional studies are needed for examining the potential effects of L-arginine supplementation athletic performance enhancement.