• 제목/요약/키워드: New disease

검색결과 3,064건 처리시간 0.033초

A New Instrument for Early Detection of Alzheimer's Disease

  • Muraoka, Tetsuya;Nagata, Tomohiro
    • 제어로봇시스템학회:학술대회논문집
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    • 제어로봇시스템학회 2003년도 ICCAS
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    • pp.2362-2366
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    • 2003
  • The paper describes a new instrument for early detection of Alzheimer's disease. A new instrument for early detection of Alzheimer's disease is constructed on both the questionnaire for the investigation of living environment, and the lists for the functional tests of the sense, the physiology, and the left and right brains. When the medical doctor has made a diagnosis of Alzheimer's disease, the demented patient does not recover the indication adding available treatments. Then, the indication of a patient only takes a turn for the worse. For the demented patient can be kept his/her life style, Alzheimer's disease can make an early detection using a new instrument before a diagnosis of the dementia. And the indication of a demented patient can be delayed by the available medical treatments.

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유전성 대사질환의 치료 및 관리 (Treatment and management of patients with inherited metabolic diseases)

  • 이진성
    • Clinical and Experimental Pediatrics
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    • 제49권11호
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    • pp.1152-1157
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    • 2006
  • Inherited metabolic disease is rare disorders that show symptoms mainly in pediatric age and early treatment is important for preventing complications of the disease. Recent development in molecular and biochemical techniques help clinicians with proper diagnosis of patients, however, many of the disease still remain lack of effective therapeutic strategies. Better understanding on biochemical and molecular basis of pathogenesis of the disease combined with advanced medical care would provide new sight on the disease that can also improve the quality of life and long-term prognosis of patients. Traditionally, there are several modalities in the treatment of metabolic diseases depend on the biochemical basis of the disease such as diet restriction, removing or blocking the production of toxic metabolites, and stimulating residual enzyme activity. The inherited metabolic disease is not familiar for many clinicians because the diagnosis is troublesome, treatment is complicated and prognosis may not as good as expected in other diseases. Recently, new therapeutic regimens have been introduced that can significantly improve the medical care of patients with metabolic disease. Enzyme replacement therapy has showed promising efficacy for lysosomal storage disease, bone marrow transplantation is effective in some disease and gene therapy has been trying for different diseases. The new trials for treatment of the disease will give us promising insight on the disease and most clinicians should have more interest in medical progress of the metabolic disease.

Exome and genome sequencing for diagnosing patients with suspected rare genetic disease

  • Go Hun Seo;Hane Lee
    • Journal of Genetic Medicine
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    • 제20권2호
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    • pp.31-38
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    • 2023
  • Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients' families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of next-generation sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

Indexes for Early Detection of Alzheimer's Disease

  • Muraoka, Tetsuya
    • 제어로봇시스템학회:학술대회논문집
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    • 제어로봇시스템학회 2003년도 ICCAS
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    • pp.2367-2371
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    • 2003
  • A new instrument for early detection of Alzheimer's disease is constructed from the investigative items with both the investigation of living environment, and the functional tests of the sense, the physiology, and the left and right brains. This paper describes the indexes obtained from the results of test using a new instrument for early detection of Alzheimer's disease. The indexes for early detection of Alzheimer's disease were obtained from the investigations of the living environment and the social adaptability, the functional tests of the sight and the hearing in the five senses, and the functional tests of left hemispheres in brain.

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치주질환 및 임플란트 주위 질환의 새 분류 (A new classification of periodontal and peri-implant disease)

  • 신현승
    • 대한치과의사협회지
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    • 제57권12호
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    • pp.758-767
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    • 2019
  • The classification of periodontal disease in 1999 has been widely used for determining a diagnosis, establishing a treatment plan, and evaluating the prognosis of the patient with periodontal disease. However, scientific evidence from many studies indicates the need for a new classification system for periodontal and peri-implant disease. Summary at 2017 world workshop as follows: 1) Periodontal health and peri-implant health was defined; 2) Chronic periodontitis and aggressive periodontitis were unified as periodontitis; 3) Periodontitis was further classified by staging and grading to reflect disease severity and management complexity, rate of disease progression, respectively; 4) Periodontal disease as manifestation of systemic disease is based on the International Statistical Classification of Diseases and Related Health Problems-10 (ICD-10) code; 5) Periodontal biotype and biologic width was replaced to periodontal phenotype and supracrestal tissue attachment, respectively; 6) The excessive occlusal force was replaced by a traumatic occlusal force; 7) ≥3 mm of radiographic bone loss, ≥6 mm of pocket probing depth and bleeding on probing indicates peri-implantitis in the absence of radiograph at final prosthesis delivery.

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A Nonparametric Test for Clinical Trial with Low Infection Rate

  • Mark C. K. Yang;Donguk Kim
    • Communications for Statistical Applications and Methods
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    • 제5권3호
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    • pp.707-722
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    • 1998
  • This paper evaluates a new clinical trial designs for low infection rate disease. This type of sparse disease reaction makes the traditional two sample t-test or Wilcoxon rank-sum test inefficient compared to a new test suggested. The new test, which is based solely on the larger changes, is shown to be more effective than existing method by simulation for small samples. However, this test can be shown to be connected to the locally most powerful rank test under certain practical conditions. This design is motivated in testing the treatment effects in periodontal disease research.

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IoMT 환경을 이용한 질병 예방 모니터링 시스템에 관한 연구 (A Study on the Disease Prevention Monitoring System Using IoMT Environment)

  • 심성호
    • 산업융합연구
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    • 제21권2호
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    • pp.111-116
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    • 2023
  • 최근 바이러스 감염병 및 새로운 질병은 한 지역에 국한되는 것이 아니라 전 세계적으로 확산되어 경제적, 사회적으로 심각한 피해를 일으키고 있다. 또한, 새로운 질병의 발현 주기가 짧고, 확산 속도도 빨라지고 있다. 질병에 대한 확산을 막기 위해 격리, 폐쇄 등 질병 발생 후 수동적인 형태의 대응이 우선시 되고 있다. 이러한 형태의 대응은 질병 확산 방지에 근본적인 대응으로는 부족한 부분이 많이 있다. 이에, 본 연구에서는 새로운 질병 발생 정보를 포함한 질병 예방 모니터링 시스템을 제안한다. 본 연구에서는 IoMT 환경 구축을 통해 질병 정보와 사용자의 정보를 수집한다. devices를 이용한 정보 수집은 사용자의 생체정보와 질병 서버에 등록된 데이터를 수집하고 분류한다. IoMT 환경에서는 사용자의 데이터를 수집하여 사용자 질병 감염 여부를 평가하여 사용자에게 제공한다. 본 연구를 통해 개인의 질병 증상 정보를 제공하고, 질병 확산에 대한 능동적인 대응 방법을 제공할 수 있다.

MicroRNAs in Human Diseases: From Autoimmune Diseases to Skin, Psychiatric and Neurodegenerative Diseases

  • Ha, Tai-You
    • IMMUNE NETWORK
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    • 제11권5호
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    • pp.227-244
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    • 2011
  • MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of miRNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress.

Biological Feature Selection and Disease Gene Identification using New Stepwise Random Forests

  • Hwang, Wook-Yeon
    • Industrial Engineering and Management Systems
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    • 제16권1호
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    • pp.64-79
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    • 2017
  • Identifying disease genes from human genome is a critical task in biomedical research. Important biological features to distinguish the disease genes from the non-disease genes have been mainly selected based on traditional feature selection approaches. However, the traditional feature selection approaches unnecessarily consider many unimportant biological features. As a result, although some of the existing classification techniques have been applied to disease gene identification, the prediction performance was not satisfactory. A small set of the most important biological features can enhance the accuracy of disease gene identification, as well as provide potentially useful knowledge for biologists or clinicians, who can further investigate the selected biological features as well as the potential disease genes. In this paper, we propose a new stepwise random forests (SRF) approach for biological feature selection and disease gene identification. The SRF approach consists of two stages. In the first stage, only important biological features are iteratively selected in a forward selection manner based on one-dimensional random forest regression, where the updated residual vector is considered as the current response vector. We can then determine a small set of important biological features. In the second stage, random forests classification with regard to the selected biological features is applied to identify disease genes. Our extensive experiments show that the proposed SRF approach outperforms the existing feature selection and classification techniques in terms of biological feature selection and disease gene identification.