28 August 2017, Volume 35 Issue 16

    

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  Clinical practice of precision medicine

  SUN Xiaoning, GONG Mengchun, ZHANG Shuyang

  Science & Technology Review. 2017, 35(16): 13-19. https://doi.org/10.3981/j.issn.1000-7857.2017.16.001

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  Clinical trials on various types of cancers come up with abundant fruits, as benefited from the blooming of the precision medicine, the idea of which has been developed significantly in recent years. The clinical practice of the precision medicine, however, is still in its infancy. Rapid growing demands for informative and reliable data-/knowledge-bases of biological and medical science call for an integrated data analysis of multiple "-omics" data and a novel clinical trial design tailored for the precision medical research. The introduction of the Electric Health Record (HER) and the standardized ontology system is essential for the optimal operation of the clinical decision support systems (CDSS). It is urgent to have a proper policy on the informed consent, the privacy and the confidentiality, and a targeted genomic screening. Guidelines ensuring the maximized efficacy and the minimal false positive rate is yet to be sought for. Professional education is of great help for the proper application of the genomic testing in the clinical practice.
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  Healthcare big data and the precise medication for rare diseases

  WU Zhihui, WANG Fei, JIANG Zhaoyun, MIN Haowei, WANG Xinwei, GONG Mengchun, SHI Wenzhao

  Science & Technology Review. 2017, 35(16): 20-25. https://doi.org/10.3981/j.issn.1000-7857.2017.16.002

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  The rapid development of the ubiquitous computing and wearable devices witnesses a new challenge in the natural hand gesture recognition:to free the users from the constraints of the environment and the devices and help the users interact with the environment in a natural and effective way. And the mid-air gesture recognition is one of the effective methods, capable of dealing with the challenge. This paper describes the definition of the mid-air gesture at first, and then analyzes and summarizes the existing hand gesture recognition methods, based on the computer vision, the ultrasonic signal and the electromagnetic wave. At last, this paper discusses the applications of the mid-air gesture recognition, some open questions and the development in the future.
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  Technologies and development of rare disease diagnosis

  WANG Yuanpin, HU Xiaomin, GONG Mengchun, LING Chao

  Science & Technology Review. 2017, 35(16): 26-30. https://doi.org/10.3981/j.issn.1000-7857.2017.16.003

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  Most of rare diseases are hereditary diseases, characterized by low incidence, numerous varieties and diverse phenotypes, and therefore it is difficult to diagnose rare diseases timely and accurately in clinical practice. With the advances in the molecular genetics, the molecular diagnostic techniques, and the gene sequencing and omics techniques, a significant progress has been made in the diagnosis of rare diseases in recent years. On the basis of traditional gene detection techniques, the next-generation sequencing technology has been rapidly developed and widely used in the diagnosis and the research of rare diseases. The next-generation sequencing technology is costeffective and of high capacity over the traditional gene tests, and is well developed for the clinical use. The third generation sequencing also shows a potential diagnostic value. Although the traditional enzymatic detection techniques play an important role in the diagnosis of rare diseases, they fail to meet the surging diagnostic demands. Studies demonstrate that the rise of the proteomics and the metabolomics enables an accurate diagnosis of a variety of rare diseases. The computer-assisted initial diagnosis also sees a bright future, combined with the molecular imaging and the bio-information technologies. Technological advances have enhanced the ability to diagnose rare diseases to a great extent.
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  Precision cardiology:From research to practice

  XU Haopeng, XU Ping, GONG Mengchun, TIAN Zhuang

  Science & Technology Review. 2017, 35(16): 31-36. https://doi.org/10.3981/j.issn.1000-7857.2017.16.004

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  With the progress of the modern information technology, the precision medicine, combined with the omics, the phenomics and the social-environmental elements, has achieved the personalized management of the diseases. In the precision cardiology, the concepts and the methods of the precision medicine are applied to the field of cardiovascular diseases, with large-scale, systematic and innovative researches to support the pharmaceutical development, the risk assessment, the disease diagnosis and the management, leading eventually to the relief of the disease burden and the improvement of the life quality. Meanwhile, the development of the precision cardiology faces technological, social and ethical challenges. With the advances in researches and clinical applications, the precision cardiology will prove its value in the combat with the cardiovascular diseases and improve the population health.
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  Precision medicine in dealing with rare neurologic diseases:Current status and future prospects

  LIU Shuang, FENG Shi, XU Ping, GONG Mengchun, PENG Bin

  Science & Technology Review. 2017, 35(16): 37-42. https://doi.org/10.3981/j.issn.1000-7857.2017.16.005

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  For rare neurologic diseases, a clear etiology is often not available, and one sees a progressive course of the diseases with a diversity in phenotypes, which poses great challenges for the diagnosis and the treatment. Recent years have witnessed a growing role of the precision medicine in dealing with rare neurologic diseases. The precision medicine has shown a great promise in exploring the pathogenesis, refining the diagnosis, improving the treatment and assessing the onset risk. In addition, the precision medicine can serve as the link between the basic medicine and the clinical practice, which provides an innovative model of the disease diagnosis and treatment. Despite difficulties in the resource integration and the omics data integration, the rapid progress of the bioinformatics and the information technology makes more promising the prospect of the precision medicine in dealing with rare neurologic diseases. The precision medical research is expected to have a leap forward in the diagnosis and treatment of neurologic diseases.
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  Advances in precision neurosurgery

  KONG Ziren, ZHANG Xiao, FENG Shi, GONG Mengchun, WANG Yu, MA Wenbin, WANG Renzhi

  Science & Technology Review. 2017, 35(16): 43-51. https://doi.org/10.3981/j.issn.1000-7857.2017.16.006

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  According to the National Institutes of Health(NIH), the precision medicine is defined as an emerging approach for disease treatment and prevention, with considerations of the variance in genes, environment, and lifestyle for an individual patient. In recent years, new developments in the basic researches, the neuroimaging, the surgery, the neurologic disorders, especially, the neuro-oncology studies, have shed light on the future of the neurosurgery. With the continuous progress of the cancer genomics, the targeted therapy, the stereotactic radiosurgery and the proton therapy, the tumors can be treated precisely, while an increasing number of therapeutic methods can also be found for the non-neoplastic neurologic disorders. This paper reviews the latest techniques and advances of the anatomical structure, the functional localization, the surgery, the diagnosis and treatment of the neoplastic and non-neoplastic disorders of the brain, demonstrating that the neurosurgery has entered a precision era.
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  Development of accurate endocrinology and the rare endocrine diseases

  FENG Shi, LIU Shuang, GONG Mengchun, LI Mei, ZHANG Shuyang

  Science & Technology Review. 2017, 35(16): 52-57. https://doi.org/10.3981/j.issn.1000-7857.2017.16.007

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  The rare diseases are characterized by an incidence less than 6.5/10000, which are both an ideal field of the precision medicine research and a significant area of clinical practice. The study of rare endocrine diseases, including the multiple endocrine neoplasia (MEN), the neonatal diabetes, the Cushing's syndrome and the congenital leptin deficiency syndrome, witnesses the development and the impact of the precision medicine. Based on a review in this respect, we discusses the future trend of the precision endocrinology in China. The precision medicine applied in the endocrine diseases such as the osteoporosis, the diabetes, and the obesity enables a better assessment of the individual risk of the endocrine diseases and can also help subclassify the diseases. Consequently, an individualized therapy could be realized. Furthermore, the medical informatics applied in the precision endocrinology may help the progress of building a big data platform and cast light in the new therapy of multifactorial diseases. The precision medicine of the rare endocrine diseases will become more prominant in a near future with the development of the sequencing technology and the establishment of the big data platform.
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  Advances in gene therapy for rare diseases using viral vectors

  LIN Yanni, LI Qiushi, WU Yao, LIN Jun

  Science & Technology Review. 2017, 35(16): 58-63. https://doi.org/10.3981/j.issn.1000-7857.2017.16.008

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  A large part of rare diseases are caused by genetic factors, making them difficult to be cured using the conventional small or large molecular drugs. Nevertheless, the gene therapy could potentially correct such absence or abnormality of body functions caused by certain genetic disorders, thus bringing better quality of life to those rare-disease patients. Currently, many clinical trials of gene therapies are carried out, and some gene therapies have already been available on the market. The viral vectors are commonly used for the gene delivery. In this paper, a variety of viral vectors for the clinical gene delivery are discussed, including the adeno-associated virus (AAV), the retrovirus, and the lentivirus, focusing on their researches, applications, and developments in clinical trials of rare diseases. Furthermore, the advantages and disadvantages of the viral vectors are evaluated, and the potential applications, as well as the research directions of gene therapies are suggested.
Articles
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  A review on the recognition of mid-air gestures

  YU Hanchao, YANG Xiaodong, ZHANG Yingwei, ZHONG Xi, CHEN Yiqiang

  Science & Technology Review. 2017, 35(16): 64-73. https://doi.org/10.3981/j.issn.1000-7857.2017.16.009

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  The rapid development of the ubiquitous computing and wearable devices witnesses a new challenge in the natural hand gesture recognition:to free the users from the constraints of the environment and the devices and help the users interact with the environment in a natural and effective way. And the mid-air gesture recognition is one of the effective methods, capable of dealing with the challenge. This paper describes the definition of the mid-air gesture at first, and then analyzes and summarizes the existing hand gesture recognition methods, based on the computer vision, the ultrasonic signal and the electromagnetic wave. At last, this paper discusses the applications of the mid-air gesture recognition, some open questions and the development in the future.
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  Determination of river cross section for 1-D water quality model in area without observation data

  LU Min, JIN Tiantian, YIN Jing, SU Huidong

  Science & Technology Review. 2017, 35(16): 74-83. https://doi.org/10.3981/j.issn.1000-7857.2017.16.010

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  The hydrodynamic and water quality model is widely used in the water environmental capacity calculation. However, the establishing of the model depends very much on the cross section data, which are sometimes not available, especially in medium and small river areas of West China. In this paper, the Google Earth remote sensing images, the maximum river water depth obtained from the field measurement and a piecewise mathematical model are combined to acquire the generalized cross section data. The MIKE, the hydrodynamic and water quality model worldwidely used, is adopted to test the generalized cross section data. The 1-D hydrodynamic and water quality models are established with the generalized cross section data and the cross section data obtained from field measurement, respectively. The method is tested through a comparison of the outputs (including the water level, the flow velocity, and the pollutant density) of the two models with different cross section inputs. According to the result, no significant differences are found between the two models in the water level, the flow velocity, and the pollutant density at the upper, middle and lower sections of the simulated river segment. It is emphasized that identical parameters, except the cross section data, are used for the models. The consistency of two model outputs can be improved further through the input of the field water level, the flow velocity, and the pollutant density. This research provides a simple and convenient way to establish the cross section file for building the 1-D Hydrodynamic and quality model under the MIKE11 in the areas where the measured cross section data are not available.
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  Implementation of “internet + big data” for cares of the aged

  QU Fang, GUO Hua

  Science & Technology Review. 2017, 35(16): 84-90. https://doi.org/10.3981/j.issn.1000-7857.2017.16.011

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  Since the beginning of the 21st century, the aging society in China grows rapidly. The Internet is important spatial carrier of the aging society, while the big data is its important technical means. So "Internet + big data" for cares of the aged is of great significance to the solution of China's aging problem and the healthy development of the aging society. This paper makes a comparative analysis of cases from literature, to show the characteristics and the connotation of the "Internet + big data" for cares of the aged, and to systematically construct an "Internet + big data" system for cares of the aged, based on the Internet and big data technology and composed of five parts, i. e. the infrastructure, the big data resources, the service platform, the application system, and the interactive demonstration, and supported by the standard evaluation system and the information security guarantee system, so as to provide care, medical service, fields for accomplishment, learning and joy for the aged.