ABSTRACT
OBJECTIVES: Standardization in the field of health informatics has increased its importance and global alliance for establishing interoperability and compatibility internationally. Standardization has been organized by standard development organizations (SDOs) such as ISO (International Organization for Standardization), CEN (European Committee for Standardization), IHE (Integrating the Healthcare Enterprise), and HL7 (Health Level 7), etc. This paper reports the status of these SDOs' activities. METHODS: In this workshop, we reviewed the past activities and the current situation of standardization in health care informatics with the standard development organizations such as ISO, CEN, IHE, and HL7. Then we discussed the future direction of standardization in health informatics toward "future medicine" based on standardized technologies. RESULTS: We could share the status of each SDO through exchange of opinions in the workshop. Some WHO members joined our discussion to support this constructive activity. CONCLUSION: At this meeting, the workshop speakers have been appointed as new members of the IMIA working groups of Standards in Health Care Informatics (WG16). We could reach to the conclusion that we collaborate for the international standardization in health informatics toward "future medicine".
Subject(s)
Medical Informatics/standards , Organizations , Health Level Seven , Medical Informatics ApplicationsABSTRACT
The spreading of neurofibrillary tangles (NFTs), intraneuronal aggregates of highly phosphorylated microtubule-associated protein tau, across the human brain is correlated with the cognitive severity of Alzheimer's disease (AD). To identify genes relevant to NFT expansion defined by the Braak stage, we conducted whole-genome exon array analysis with an exploratory sample set consisting of 213 human post-mortem brain tissue specimens from the entorinal, temporal and frontal cortices of 71 brain-donor subjects: Braak NFT stages 0 (N=13), I-II (N=20), III-IV (N=19) and V-VI (N=19). We identified eight genes, RELN, PTGS2, MYO5C, TRIL, DCHS2, GRB14, NPAS4 and PHYHD1, associated with the Braak stage. The expression levels of three genes, PHYHD1, MYO5C and GRB14, exhibited reproducible association on real-time quantitative PCR analysis. In another sample set, including control subjects (N=30), and in patients with late-onset AD (N=37), dementia with Lewy bodies (N=17) and Parkinson disease (N=36), the expression levels of two genes, PHYHD1 and MYO5C, were obviously associated with late-onset AD. Protein-protein interaction network analysis with a public database revealed that PHYHD1 interacts with MYO5C via POT1, and PHYHD1 directly interacts with amyloid beta-peptide 42. It is thus likely that functional failure of PHYHD1 and MYO5C could lead to AD development.
Subject(s)
Alzheimer Disease/genetics , Neurofibrillary Tangles/genetics , Adaptor Proteins, Signal Transducing/genetics , Alzheimer Disease/pathology , Basic Helix-Loop-Helix Transcription Factors/genetics , Brain/pathology , Cell Adhesion Molecules, Neuronal/genetics , Cyclooxygenase 2/genetics , Disease Progression , Extracellular Matrix Proteins/genetics , Female , Gene Expression Profiling , Gene Ontology , Genes/genetics , Genetic Association Studies , Genetic Predisposition to Disease/genetics , Humans , Intercellular Signaling Peptides and Proteins , Intracellular Signaling Peptides and Proteins/genetics , Male , Membrane Proteins , Myosin Type V/genetics , Nerve Tissue Proteins/genetics , Neurofibrillary Tangles/pathology , Real-Time Polymerase Chain Reaction , Reelin Protein , Serine Endopeptidases/geneticsABSTRACT
Alzheimer's disease (AD) is a complex neurodegenerative condition, and its drug therapy is challenging. To inform AD drug discovery, we developed the "AlzPathway," a prototype of a comprehensive map of AD-related signaling pathways, from information obtained through studies in the public domain. The AlzPathway provides an integrated platform for systems analyses of AD-signaling pathways and networks.
Subject(s)
Alzheimer Disease/physiopathology , Drug Discovery/methods , Molecular Targeted Therapy , Alzheimer Disease/drug therapy , Drug Design , Humans , Signal Transduction , Systems BiologyABSTRACT
A new approach for inferring the evolutionary process of within-host virus is presented in this study. This approach includes a sequential-linking algorithm developed by us that can deal with the sequential viral samples that are obtained at different time points from the same host, and reconstruct a longitudinal phylogenetic tree in which the evolutionary relations between viral variants can be shown. A codon-based model, which uses a Markov process to describe substitutions between codons, is also employed in this approach to calculate synonymous and non-synonymous substitution rates and to distinguish positive selection and neutral evolution. The approach is applied to a data set of the V3 region of the HIV-1 envelope genes sequenced in different years after infection of a single patient. The results suggest that this approach may provide a more realistic description of viral evolution than the traditional evolution models because it accounts for both neutral and adaptive evolution. Most important of all, since this approach make it possible to follow up the evolutionary process of within-host virus by analyzing the sequential viral samples, it could be used in inference and prediction of the course of the diseases caused by pathologic viruses and evaluation of the treatment.
Subject(s)
Evolution, Molecular , Gene Products, env/genetics , HIV-1/genetics , Viruses , Algorithms , Markov Chains , Phylogeny , Viruses/genetics , Viruses/pathogenicityABSTRACT
A new algorithm for inferring the evolution of within-host viral sequences is presented. A sequential-linking approach is developed so that a longitudinal phylogenetic tree can be reconstructed from sequential molecular data that are obtained at different time points from the same host. The algorithm employs a codon-based model, which uses a Markov process to describe substitutions between codons, to calculate nonsynonymous and synonymous substitution rates and to distinguish positive selection and neutral evolution. The algorithm is applied to a data set of the V3 region of the HIV-1 envelope genes sequenced at different years after the infection of a single patient. The results suggest that this algorithm may provide a more realistic description of viral evolution than traditional evolutionary models, because it accounts for both neutral and adaptive evolution, and reconstructs a longitudinal phylogenetic tree that describes the dynamic process of viral evolution.
