• 제목/요약/키워드: standard of diagnosis

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차세대 염기서열분석을 이용한 유전성 대사질환의 유전진단 (Genetic Diagnosis of Inherited Metabolic Disorders using Next-Generation Sequencing)

  • 기창석
    • 대한유전성대사질환학회지
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    • 제23권2호
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    • pp.1-7
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    • 2023
  • 유전성 대사질환은 생화학적 대사 이상에 의해 발생하는 질환 군으로, 매우 다양할 뿐만 아니라 임상 양상이 서로 겹칠 수 있어 진단에 어려움을 겪을 수 있다. 과거에는 유전성 대사질환의 원인이 될 수 있는 유전자를 선정한 후 한 개씩 분석하는 방식으로 유전자 검사를 시행했다. 하지만, 최근에는 차세대 염기서열분석 기술이 발전함에 따라 유전성 대사질환과 관련된 수백-수천개의 유전자를 한꺼번에 분석하거나, 인간의 모든 유전자를 포함하는 엑솜/게놈 분석을 시행한 후 원인 유전자를 찾는 방식으로 유전 진단의 패러다임이 바뀌고 있다. 본 종설에서는 차세대 염기서열분석을 이용한 유전성 대사질환의 유전 진단 방법과 진단율 및 주의점 등을 살펴보고자 한다.

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도시철도차량 전선의 열화진단 평가기준 (Evaluation Standards to Diagnosis Cables in Urban Railway Vehicles)

  • 임재윤;이종필;이대종;지평식;강성화;김형철
    • 전기학회논문지P
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    • 제59권3호
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    • pp.268-274
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    • 2010
  • Urban rail transit brings the benefits of various aspects of society. With the advent of fast and large trains, however, risk and scale of accidents have increased. Despite the fact that there is various safety features built into the modern metros, train faults happen from time to time. Especially, as urban railway vehicles in Korea have become deterioration rapidly, more advanced diagnosis methods are required to prevent various accidents. In this paper, we present diagnosis method for electrical wires to guarantee secure driving and authenticity more accurately in urban railway vehicles. Although there are kinds of conventional methods based on insulation resistance measurement and withstand test, it is extremely difficult to effectively diagnose obsolete equipments such as electrical wires and cables not new ones. This study is focused on development of diagnosis method and establishment of evaluation standard for electrical wires in urban railway vehicles.

Does Hopelessness of Turkish Women Affect their Behavior Regarding Cervical Cancer Prevention and Early Diagnosis?

  • Tasci-Duran, Emel;Unsal-Atan, Senay
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권3호
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    • pp.2085-2089
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    • 2013
  • Background: The purpose of this descriptive study was to investigate attitudes women of towards cervical cancer prevention applications and early diagnosis, and whether or not their hopelessness levels had any influence. Materials and Methods: The present study was carried out in Isparta with a descriptive design. A sample of 251 individuals was recruited from January 2011 through May 2011 in the largest tea garden (restaurant-cafe). The data collection tool consisted of two parts: a "Questionnaire Form" identifying women; and the "Beck Hopelessness Scale". Data were analyzed using the Statistical Package for the Social Sciences (SPSS version 16.0 for Windows for the numerical and percentage distribution, average, standard deviation with the ANOVA and Mann-Whitney tests. Results: Some 70.2 % of the woman indicated that they had not taken the Pap test. There was a significant relationship between the hopelessness level and women believing that they could protect themselves from getting cervical cancer (F=10.11 p=0.00). There was a significant relationship between hopelessness levels and believing whether or not early diagnosis tests are deterministic (F=8.781 p=0.00). Conclusion: Our study concluded that the hopelessness level of women had an effect on their thoughts about cervical cancer prevention and early diagnosis.

임상의사결정 향상을 위한 근거 기반 간호과정 시스템 개발-대장암 간호진단을 중심으로- (Development of an Evidence-based Nursing Process System to Improve Clinical Decision Making with Colorectal Cancer Nursing Diagnosis)

  • 박현상;조훈;김화선
    • 한국멀티미디어학회논문지
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    • 제19권7호
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    • pp.1197-1207
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    • 2016
  • The purpose of this study was to develop an evidence-based Nursing Process System on Nursing Diagnosis, Nursing Outcomes, and Nursing Interventions Classification targeting nurse students. We use standard classification-focused research data on the basis of Nursing Diagnosis Classification established by NANDA (North American Nursing Diagnosis Association), NOC (Nursing Outcomes Classification) and NIC (Nursing Interventions Classification) mainly developed by Iowa Sate University. The existing research methods are difficult to be applied the consistent nursing process, since such methods need to repeatedly enter the same nursing process without systematic guidelines. But, this study was coded data of standardized nursing process in accordance with the 10 clinical condition in order to implement the nursing process macro, and developed a system that reflects the needs of nursing educators. Therefore, nurse students can improve clinical decision-making ability, and naturally learn the nursing process through a system developed.

변압기 예방진단을 위한 IEC61850 객체모델에 관한 연구 (The Study of IEC61850 Object Models for Transformer Preventive Diagnosis)

  • 황보승욱;오의석;김병진;김현성;이정복;박귀철
    • 대한전기학회:학술대회논문집
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    • 대한전기학회 2006년도 제37회 하계학술대회 논문집 A
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    • pp.103-104
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    • 2006
  • Since the first proposition of IEC61850 object model at 1993, many questions about making a seamless model have been issued. the reason which they have worry about is that the functions of the equipment are supposed to be changed properly and new equipment and scheme are need to be introduced according to user's application. To handle those issues, TC57 which is a IEC committee for power control and communication has continuously updated the object model. Nowadays along with the new object model involving power quality, distribution resource and wind power, the committee has a plan to announce the revision of IEC61850-7-4. In the study, authors will present the prediction and diagnosis object models for transformer. Transformer models for protection and control have already been dealt with in the international standard but the models for prediction and diagnosis have never mentioned until now. Designing the prediction and diagnosis functions with the existing IEC61850-7-4, it'll be shown what is a proper object model for prediction and diagnosis.

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Analysis on Early Detection of Lung Cancer by PET/CT Scan

  • Wang, Huo-Qiang;Zhao, Long;Zhao, Juan;Wang, Qiang
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권6호
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    • pp.2215-2217
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    • 2015
  • Background: This systemic analysis was conducted to to evaluate the application value of positron emission tomography/computed tomography (PET/CT) in early diagnosis of lung cancer. Methods: Clinical studies evaluating the application value of PET/CT for patients underwent PET/CT imaging. The histological diagnosis served as the standard of truth. Results: Four clinical studies which including 1330 patients with pulmonary spaceoccupying lesions were considered eligible for inclusion. Systemic analysis suggested that, in all 1330 patients, pooled sensitivity was 98.7% (1313.2/1330) and specificity was 58.2%(276.85/476). Conclusion: This systemic analysis suggests that integrated PET/CT imaging provides high sensitivity, and reasonably high specificity, and could be applied for early diagnosis of lung cancer.

수면무호흡증의 진단과 치료 (Diagnosis and Treatment of Sleep Apnea)

  • 이상학;문화식
    • 수면정신생리
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    • 제10권1호
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    • pp.5-11
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    • 2003
  • Sleep apnea syndrome is a common clinical disorder characterized by intermittent cessation of airflow at nose and mouth during sleep. The clinical significance of this syndrome is that it is one of the most common causes of excessive daytime sleepiness. It can also cause neuropsychiatric, cardiovascular, and cerebrovascular complications. The standard for diagnosis of sleep apnea syndrome is nocturnal polysomnography. Because polysomnography is a time-consuming and expensive test, many efforts have been made to replace polysomnography with a simpler system of monitoring, but no method has yet been approved as a definitive investigation method. The goals of treatment for this syndrome are to eliminate excessive daytime sleepiness and to reduce the risk of possible cardiovascular complications. Continuous positive airway pressure is the most definite and widely accepted treatment for achieving these goals. Other treatments such as surgical treatment, oral appliances, and behavioral therapy may be useful for selected patients who are mildly affected.

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표면열화진단을 위한 적외선카메라의 응용 (The Application of IRR-Camera for the Diagnosis of Surface Degradation)

  • 임장섭;정승천;이진
    • 한국전기전자재료학회:학술대회논문집
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    • 한국전기전자재료학회 2001년도 춘계학술대회 논문집 센서 박막재료
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    • pp.61-65
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    • 2001
  • The conventional tracking testing as IEC-60587 is widely used in surface aging measurement of outdoor insulator because those testing can carry out very short time in Lab-testing. Also IEC-60587 testing is able to offer the standard judgement of relative degradation level of outdoor HV machine/system. Therefore it is very useful method compare to previous conventional tracking testing method and effective Lab-testing method. But surface discharges(SD) have very complex characteristics of discharge pattern so it is required estimation research to development of precise analysis method. In recent, the study of IRR-camera is carrying out discover of temperature of power equipment through condition diagnosis and system development of degradation diagnosis. In this study, SD occurred from procelain insulator, used 22.9[KV] distribution, is measured with partial temperature distribution in real time, the degradation grade of SD is analyzed through produced patterns in SD concentration according to applied time.

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Cerebellar Schistosomiasis: A Case Report with Clinical Analysis

  • Wan, Heng;Lei, Ding;Mao, Qing
    • Parasites, Hosts and Diseases
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    • 제47권1호
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    • pp.53-56
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    • 2009
  • The authors report here a rare case of cerebellar schistosomiasis identified by pathological diagnosis, lacking extracranial involvement. The clinical symptoms included headache, dizziness, and nausea. Studies in blood were normal and no parasite eggs were detected in stool. Computed tomography of brains showed hypodense signal, and magnetic resonance imaging showed isointense signal on T1-weighted images, hyperintense signal on T2-weighted images, and intensely enhancing nodules in the right cerebellum after intravenous administration of gadolinium. A high-grade glioma was suspected, and an operation was performed. The pathologic examination of the biopsy specimen revealed schistosomal granulomas scattered within the parenchyma of the cerebellum. The definitive diagnosis was cerebellar schistosomiasis japonica. A standard use of praziquantel and corticosteroid drugs was applied, and the prognosis was good. When the pattern of imaging examinations is present as mentioned above, a diagnosis of brain schistosomiasis should be considered.

Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment

  • Jang, Kyung Mi
    • Journal of Yeungnam Medical Science
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    • 제37권1호
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    • pp.13-21
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    • 2020
  • Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.