Urgent Notification Intervention of Home Blood Pressure in Cohort Studies of the Tohoku Medical Megabank Project.

Introduction: The Tohoku Medical Megabank (TMM) was established for creative reconstruction from the Great East Japan Earthquake and tsunami in 2011. Two prospective genome cohort studies in Miyagi prefecture have successfully recruited approximately 127,000 participants. The health status of these individuals was evaluated at the initial recruitment, and follow-up health checkups have been conducted every 5 years.

Extraction and Quantification of Words Representing Degrees of Diseases: Combining the Fuzzy C-Means Method and Gaussian Membership.

Background: Due to the development of medical data, a large amount of clinical data has been generated. These unstructured data contain substantial information. Extracting useful knowledge from this data and making scientific decisions for diagnosing and treating diseases have become increasingly necessary.

Cost-Effectiveness of a Continuous Glucose Monitoring Mobile App for Patients With Type 2 Diabetes Mellitus: Analysis Simulation.

Background: Apps for real-time continuous glucose monitoring (CGM) on smartphones and other devices linked to CGM systems have recently been developed, and such CGM apps are also coming into use in Japan. In comparison with conventional retrospective CGM, the use of CGM apps improves patients' own blood glucose control, which is expected to help slow the progression of type 2 diabetes mellitus (DM) and prevent complications, but the effect of their introduction on medical costs remains unknown.

Objective: Our objective in this study was to perform an economic appraisal of CGM apps from the viewpoint of assessing public medical costs associated with type 2 DM, using the probability of developing type 2 DM-associated complications, and data on medical costs and utility value to carry out a medical cost simulation using a Markov model in order to ascertain the cost-effectiveness of the apps.

The Pre-Eclampsia Ontology: A Disease Ontology Representing the Domain Knowledge Specific to Pre-Eclampsia.

Pre-eclampsia (PE) is a clinical syndrome characterized by new-onset hypertension and proteinuria at ≥20 weeks of gestation, and is a leading cause of maternal and perinatal morbidity and mortality. Previous studies have gathered abundant data about PE such as risk factors and pathological findings. However, most of these data are not semantically structured.

Network Analysis of a Comprehensive Knowledge Repository Reveals a Dual Role for Ceramide in Alzheimer's Disease.

Alzheimer's disease (AD) is the most common cause of senile dementia. Many inflammatory factors such as amyloid-β and pro-inflammatory cytokines are known to contribute to the inflammatory response in the AD brain. Sphingolipids are widely known to have roles in the pathogenesis of inflammatory diseases, where the precise roles for sphingolipids in inflammation-associated pathogenesis of AD are not well understood.

Audit Trail Management System in Community Health Care Information Network.

After the Great East Japan Earthquake we constructed a community health care information network system. Focusing on the authentication server and portal server capable of SAML&ID-WSF, we proposed an audit trail management system to look over audit events in a comprehensive manner. Through implementation and experimentation, we verified the effectiveness of our proposed audit trail management system.

Network-Based Analysis for Uncovering Mechanisms Underlying Alzheimer's Disease.

Alzheimer's disease (AD) is known to be a multifactorial neurodegenerative disorder, and is one of the main causes of dementia in the elderly. Many studies have demonstrated molecules involved in the pathogenesis of AD, however its underlying mechanisms remain obscure. It may be simplistic to try to explain the disease based on the role of a few genes only.

AlzPathway, an Updated Map of Curated Signaling Pathways: Towards Deciphering Alzheimer's Disease Pathogenesis.

Alzheimer's disease (AD) is a complex neurodegenerative disorder in which loss of neurons and synaptic function causes dementia in the elderly. To clarify AD pathogenesis and develop drugs for AD, thousands of studies have elucidated signaling pathways involved. However, knowledge of AD signaling pathways has not been compiled as a pathway map.

Development of an Ontology for Periodontitis.

Background: In the clinical dentists and periodontal researchers' community, there is an obvious demand for a systems model capable of linking the clinical presentation of periodontitis to underlying molecular knowledge. A computer-readable representation of processes on disease development will give periodontal researchers opportunities to elucidate pathways and mechanisms of periodontitis. An ontology for periodontitis can be a model for integration of large variety of factors relating to a complex disease such as chronic inflammation in different organs accompanied by bone remodeling and immune system disorders, which has recently been referred to as osteoimmunology.

A method to associate all possible combinations of genetic and environmental factors using GxE landscape plot.

Unlabelled: Genome-wide association studies (GWAS) and linkage analysis has identified many single nucleotide polymorphisms (SNPs) related to disease. There are many unknown SNPs whose minor allele frequencies (MAFs) as low as 0.005 having intermediate effects with odds ratio between 1.

Modularity in the evolution of yeast protein interaction network.

Protein interaction networks are known to exhibit remarkable structures: scale-free and small-world and modular structures. To explain the evolutionary processes of protein interaction networks possessing scale-free and small-world structures, preferential attachment and duplication-divergence models have been proposed as mathematical models. Protein interaction networks are also known to exhibit another remarkable structural characteristic, modular structure.

A survey aimed at general citizens of the US and Japan about their attitudes toward electronic medical data handling.

Objectives: To clarify the views of the general population of two countries (US and Japan), concerning the handling of their medical records electronically.

Methods: We contacted people nationwide in the United States at random via Random Digit Dialing (RDD) to obtain 200 eligible responders. The questionnaire was for obtaining the information on their attitudes towards handling of their medical records, disclosure of the name of disease, secondary usage of information, compiling their records into a lifelong medical record, and access to their medical records on the Internet.

Identification of unstable network modules reveals disease modules associated with the progression of Alzheimer's disease.

Alzheimer's disease (AD), the most common cause of dementia, is associated with aging, and it leads to neuron death. Deposits of amyloid β and aberrantly phosphorylated tau protein are known as pathological hallmarks of AD, but the underlying mechanisms have not yet been revealed. A high-throughput gene expression analysis previously showed that differentially expressed genes accompanying the progression of AD were more down-regulated than up-regulated in the later stages of AD.

Genomic Sequence Variation Markup Language (GSVML).

Objective: With the aim of making good use of internationally accumulated genomic sequence variation data, which is increasing rapidly due to the explosive amount of genomic research at present, the development of an interoperable data exchange format and its international standardization are necessary. Genomic Sequence Variation Markup Language (GSVML) will focus on genomic sequence variation data and human health applications, such as gene based medicine or pharmacogenomics.

Design And Method: We developed GSVML through eight steps, based on case analysis and domain investigations.

Research and education for biomedical informatics at Tokyo Medical and Dental University.

Objectives: Based on a basic concept of "Systems Life Science: understanding life and disease as a unified system", we move forward in research, empirical implementation, and making contributions to healthcare policy.

Methods: We integrate bioinformatics and medical informatics for identifying critical issues in biological science and solving medical challenges with a concept of "Systems Life Science" which consists of "Systems Evolutionary Biology" for basic science, "Systems Pathology" for clinical sciences, and an empirical medical informatics for future medicine.

Results: Our laboratory is an integrated laboratory consisting of a computational biology group in the School of Biomedical Sciences (SBS), a bioinformatics group in the Medical Research Institute (MRI), and a medical informatics group in the Information Center for Medical Sciences (ICMS) with a philosophy of "Empirical Systems Life Science".

Interface analysis between GSVML and HL7 version 3.

In order to realize gene-based medicine, a number of key challenges must be overcome. Construction of infrastructure capable of integrating genetic and clinical information is one of those challenges. The Genomic Sequence Variation Markup Language (GSVML) and the Health Level Seven Version 3 (HL7v3) are important electronic data exchange standards for clinical genome infrastructure, and compatibility between these two standards will promote the above integration.