• Title/Summary/Keyword: co occurrence

Search Result 1,063, Processing Time 0.033 seconds

Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment

  • Jae Hun Yun;Yong Hee Hong;Go Hun Seo;Young-Lim Shin
    • Journal of Genetic Medicine
    • /
    • v.19 no.2
    • /
    • pp.94-99
    • /
    • 2022
  • Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

Research Trends of Pharmacopuncture: a bibliometric analysis using VOSviewer (2007-2023)

  • Chan-Young Kwon
    • Journal of Pharmacopuncture
    • /
    • v.26 no.3
    • /
    • pp.227-237
    • /
    • 2023
  • Objectives: Pharmacopuncture is considered a unique new type of acupuncture in Korean medicine (KM). This study was performed to investigate the research trends regarding pharmacopuncture through a bibliometric analysis using VOSviewer. Methods: The Web of Science Core Collection was searched for this study. The search terms were pharmacopuncture and pharmaco-puncture. The search was conducted on May 23, 2023, and 185 studies retrieved up to this date were included. Software VOSviewer version 1.6.19 was used to perform the bibliometric analysis. After data clearing, keyword co-occurrence and cooperation pattern analyses were performed. Results: The number of studies on pharmacopuncture have gradually increased since the mid-2000s, with the most published in 2020 (46 studies). The quality of the studies has also steadily increased, and recently, several randomized controlled trials of pharmacopuncture have been conducted. Moreover, this treatment has been investigated in the context of KM clinical practice guideline development in Korea. The scope of pharmacopuncture studies to date seems to be limited to musculoskeletal pain and bee venom pharmacopuncture. The researchers from Jaseng Medical Foundation have been the core researchers in the field of pharmacopuncture in Korea. They collaborated with researchers from universities or government-funded research institutes. However, small-scale research teams from KM clinics and university researchers were also identified as independent clusters. Conclusion: Pharmacopuncture research has grown both quantitatively and qualitatively, but the scope needs to be further expanded. There is also a gap between the use of pharmacopuncture by KM doctors in clinical settings and pharmacopuncture research. Based on these findings, some suggestions for future studies in this field are discussed. Furthermore, these findings may be used as data to expand and globalize pharmacopuncture research in the future.

Measurement and Analysis of Physical Environmental Load during Handling and Distribution of Domestic Fruits -Focused on Seongju Korean Melon

  • Jongmin Park;Donghyun Kim;Wontae Seo;Hyunmo Jung
    • KOREAN JOURNAL OF PACKAGING SCIENCE & TECHNOLOGY
    • /
    • v.29 no.2
    • /
    • pp.129-138
    • /
    • 2023
  • The proportion of agricultural products handled through the Agricultural Products Processing Center (APC) is also steadily increasing every year, and in the case of Seongju Korean melon, a total of 10 APCs of Nonghyup and farming association corporations are in operation, and the distribution ratio is about 60% based on total production. In this study, Seongju Korean melon was selected as a target to analyze the environment load during carrying (production farm ~ APC) in the production area and the transport environment load during distribution of domestic fruits, and to analyze the environmental load for handling at APC. The vertical average vibration intensity (overall Grms of 1~250 Hz) of truck transport measured at three transport routes from Seongju Korean melon producer ~ APC, Seongju ~ Seoul and Seongju ~ Jeju was about three times larger than that in the lateral direction and 4.5 times larger than that in the longitudinal direction, respectively. The frequency of occurrence of high-amplitude events (G) in the vertical direction compared to the measuring time was deeply related to pavement conditions in the order of unpaved farm-roads, concretepaved farm-roads, and asphalt-paved main-roads, but overall Grms for the entire frequency band is believed to have a greater impact on vehicle traveling speed than road conditions. On the other hand, the difference in the size and direction of the vibration intensity measured by the forklift truck's main-body and the attachment (fork carrier) during handling at Seongju Korean melon APC was clear, and the vibration intensity of the forklift truck's main-body was largely affected by the stiffness of the fork and the mast according to the handling weight. Based on the field-data of the transport environment during domestic distribution measured through this study, it is believed that it is possible to develop a lab-based simulation protocol for appropriate packaging design.

Comparative Study on Load Criteria by Class Based on Structural Analysis of 38ft HDPE Power Boat (38ft급 HDPE 파워보트 구조해석을 통한 선급별 하중 기준에 대한 비교 고찰)

  • Byungyoung Moon;Hyeonjin Hong;Dae-Hyeon Kim;Wonmin Lee;Sangmok Lee
    • Journal of the Society of Naval Architects of Korea
    • /
    • v.60 no.1
    • /
    • pp.38-47
    • /
    • 2023
  • According to the government policy of environmental regulations, interest of ship, which made with High-Density Polyethylene (HDPE) as a low-carbon and eco-friendly material, is growing as a substitute for the existing fishery boat hull materials such as FRP, aluminum, steel etc. However, regulations related to the production of HDPE ship are still quite incomplete. Even there are no regulations related to structural analysis. Therefore, in this study, structural analysis is carried out by applying different design loads for each international classification for 38ft class HDPE power boats, and the results are compared and analyzed. According to this study, although there is a correlation between the based pressure value and the analysis result value of each class regulation, it is not necessarily proportional. Also, This analysis result shows a difference not only depending on the size of design load, but also application range of the load, the pressure adjustment factor and section shape. However, the occurrence point and trend of the maximum stress values were quite consistent. It is hoped that the results of this study will be used when establishing HDPE ship structure analysis procedures and standards in the future.

A Basic Study on Relative Liquefaction Failure Risk Assessment of Domestic Small to Medium-Sized Earthfill Dams (국내 중소규모 흙댐의 상대적 액상화 파괴위험도 평가 기초 연구)

  • Park, Tae Hoon;Ha, Ik-soo
    • Journal of the Earthquake Engineering Society of Korea
    • /
    • v.27 no.3
    • /
    • pp.147-155
    • /
    • 2023
  • This study aims to present a method to evaluate the relative risk of failure due to liquefaction of domestic small to medium-sized earthfill dams with a height of less than 15 m, which has little information on geotechnical properties. Based on the results of previous researches, a series of methods and procedures for estimating the probability of dam failure due to liquefaction, which calculates the probability of liquefaction occurrence of the dam body, the amount of settlement at the dam crest according to the estimation of the residual strength of the dam after liquefaction, the overtopping depth determined from the amount of settlement at the dam crest, and the probability of failure of the dam due to overtopping was explicitly presented. To this end, representative properties essential for estimating the probability of failure due to the liquefaction of small to medium-sized earthfill dams were presented. Since it is almost impossible to directly determine these representative properties for each of the target dams because it is almost impossible to obtain geotechnical property information, they were estimated and determined from the results of field and laboratory tests conducted on existing small to medium-sized earthfill dams in previous researches. The method and procedure presented in this study were applied to 12 earthfill dams on a trial basis, and the liquefaction failure probability was calculated. The analysis of the calculation results confirmed that the representative properties were reasonable and that the overall evaluation procedure and method were effective.

A Study on the Improvement of the Management System of Rockfall Risk Area Using the Rockfall Analysis Program (낙석 해석 프로그램을 이용한 낙석위험지역 관리체계 개선 방안에 대한 연구)

  • Bae Dong Kang;Jae Chae Jeong;Chang Deok Jang;Kye Won Jun
    • Journal of Korean Society of Disaster and Security
    • /
    • v.15 no.4
    • /
    • pp.79-86
    • /
    • 2022
  • The National Park Service is making efforts to create a safe environment by installing rockfall prevention facilities (rockfall prevention nets, fences, and Piam tunnels) in areas at risk of falling rocks. However, the occurrence of falling rocks is increasing every year due to torrential rains caused by climate change, abnormal temperatures in winter, and aging of the ground, and the need to improve the existing rock risk area management plan has emerged. In this study, a pilot area at risk of falling rocks was selected for the Hwanggol district of Chiaksan National Park among Korean national parks, and rockfall analysis was performed using the Rockfall program, and monitoring was conducted by applying a countermeasure method combined with the measurement system to the pilot area. Through this, a rockfall management plan was proposed for continuous management and monitoring of rockfall.

Cone-beam computed tomography texture analysis can help differentiate odontogenic and non-odontogenic maxillary sinusitis

  • Andre Luiz Ferreira Costa;Karolina Aparecida Castilho Fardim;Isabela Teixeira Ribeiro;Maria Aparecida Neves Jardini;Paulo Henrique Braz-Silva;Kaan Orhan;Sergio Lucio Pereira de Castro Lopes
    • Imaging Science in Dentistry
    • /
    • v.53 no.1
    • /
    • pp.43-51
    • /
    • 2023
  • Purpose: This study aimed to assess texture analysis(TA) of cone-beam computed tomography (CBCT) images as a quantitative tool for the differential diagnosis of odontogenic and non-odontogenic maxillary sinusitis(OS and NOS, respectively). Materials and Methods: CBCT images of 40 patients diagnosed with OS (N=20) and NOS (N=20) were evaluated. The gray level co-occurrence (GLCM) matrix parameters, and gray level run length matrix texture (GLRLM) parameters were extracted using manually placed regions of interest on lesion images. Seven texture parameters were calculated using GLCM and 4 parameters using GLRLM. The Mann-Whitney test was used for comparisons between the groups, and the Levene test was performed to confirm the homogeneity of variance (α=5%). Results: The results showed statistically significant differences(P<0.05) between the OS and NOS patients regarding 3 TA parameters. NOS patients presented higher values for contrast, while OS patients presented higher values for correlation and inverse difference moment. Greater textural homogeneity was observed in the OS patients than in the NOS patients, with statistically significant differences in standard deviations between the groups for correlation, sum of squares, sum of entropy, and entropy. Conclusion: TA enabled quantitative differentiation between OS and NOS on CBCT images by using the parameters of contrast, correlation, and inverse difference moment.

Mitigating Metal-dissolution in a High-voltage 15 wt% Si-Graphite‖Li-rich Layered Oxide Full-Cell Utilizing Fluorinated Dual-Additives

  • Kim, Jaeram;Kwak, Sehyun;Pham, Hieu Quang;Jo, Hyuntak;Jeon, Do-Man;Yang, A-Reum;Song, Seung-Wan
    • Journal of Electrochemical Science and Technology
    • /
    • v.13 no.2
    • /
    • pp.269-278
    • /
    • 2022
  • Utilization of high-voltage electrolyte additive(s) at a small fraction is a cost-effective strategy for a good solid electrolyte interphase (SEI) formation and performance improvement of a lithium-rich layered oxide-based high-energy lithium-ion cell by avoiding the occurrence of metal-dissolution that is one of the failure modes. To mitigate metal-dissolution, we explored fluorinated dual-additives of fluoroethylene carbonate (FEC) and di(2,2,2-trifluoroethyl)carbonate (DFDEC) for building-up of a good SEI in a 4.7 V full-cell that consists of high-capacity silicon-graphite composite (15 wt% Si/C/CF/C-graphite) anode and Li1.13Mn0.463Ni0.203Co0.203O2 (LMNC) cathode. The full-cell including optimum fractions of dual-additives shows increased capacity to 228 mAhg-1 at 0.2C and improved performance from the one in the base electrolyte. Surface analysis results find that the SEI stabilization of LMNC cathode induced by dual-additives leads to a suppression of soluble Mn2+-O formation at cathode surface, mitigating metal-dissolution event and crack formation as well as structural degradation. The SEI and structure of Si/C/CF/C-graphite anode is also stabilized by the effects of dual-additives, contributing to performance improvement. The data give insight into a basic understanding of cathode-electrolyte and anode-electrolyte interfacial processes and cathode-anode interaction that are critical factors affecting full-cell performance.

Extraction of Urban Boundary Using Grey Level Co-Occurrence Matrix Method in Pancromatic Satellite Imagery (GLCM기법을 이용한 전정색 위성영상에서의 도시경계 추출)

  • Kim, Gi Hong;Choi, Seung Pil;Yook, Woon Soo;Sohn, Hong Gyoo
    • KSCE Journal of Civil and Environmental Engineering Research
    • /
    • v.26 no.1D
    • /
    • pp.211-217
    • /
    • 2006
  • Growing urban areas modify patterns of local land use and land cover. Land use changes associated with urban expansion. One way to understand and document land use change and urbanization is to establish benchmark maps compiled from satellite imagery. Old satellite Imagery is useful data to extract urban information. CORONA is a photo satellite reconnaissance program used from 1960 to 1972 and its imagery was declassified and has been available to the public since 1995. Since CORONA images are collected with panoramic cameras, several types of geometric distortions are involved. In this study we proposed mathematical modeling method which use modified collinearity equations. After the geometric modeling, we mosaicked images. We can successfully extract urban boundaries using GLCM method and visual interpretation in CORONA (1972) and SPOT (1995) imagery and detect urban changes in Seoul quantitatively.

A Review of the Application of Constructed Wetlands as Stormwater Treatment Systems

  • Reyes, Nash Jett;Geronimo, Franz Kevin;Guerra, Heidi;Jeon, Minsu;Kim, Lee-Hyung
    • Proceedings of the Korea Water Resources Association Conference
    • /
    • 2022.05a
    • /
    • pp.162-162
    • /
    • 2022
  • Stormwater management is an essential component of land-use planning and development. Due to the additional challenges posed by climate change and urbanization, various stormwater management schemes have been developed to limit flood damages and ease water quality concerns. Nature-based solutions (NBS) are increasingly used as cost-effective measures to manage stormwater runoff from various land uses. Specifically, constructed wetlands were already considered as socially acceptable green stormwater infrastructures that are widely used in different countries. There is a large collection of published literature regarding the effectiveness or efficiency of constructed wetlands in treating stormwater runoff; however, metadata analyses using bibliographic information are very limited or seldomly explored. This study was conducted to determine the trends of publication regarding stormwater treatment wetlands using a bibliometric analysis approach. Moreover, the research productivity of various countries, authors, and institutions were also identified in the study. The Web of Science (WoS) database was utilized to retrieve bibliographic information. The keywords ("constructed wetland*" OR "treatment wetland*" OR "engineered wetland*" OR "artificial wetland*") AND ("stormwater*" or "storm water*") were used to retrieve pertinent information on stormwater treatment wetlands-related publication from 1990 up to 2021. The network map of keyword co-occurrence map was generated through the VOSviewer software and the contingency matrices were obtained using the Cortext platform (www.cortext.net). The results obtained from this inquiry revealed the areas of research that have been adequately explored by past studies. Furthermore, the extensive collection of published scientific literature enabled the identification of existing knowledge gaps in the field of stormwater treatment wetlands.

  • PDF