Using commercially available tools for multifaceted health assessment: data integration lessons learned.

Health monitoring data collected from multiple available intake devices provide a rich resource to support older adult health and wellness. Although large amounts of data can be collected, there is currently a lack of understanding on the integration of these various data sources using commercially available products. This article describes an inexpensive approach to integrating data from multiple sources from a recently completed pilot project that assessed older adult wellness and demonstrates challenges and benefits in pursuing data integration using commercially available products. The data in this project were sourced from electronically captured participant intake surveys and existing commercial software output for vital signs and cognitive function. All the software used for data integration in this project was freeware and was chosen because of its ease of comprehension by novice database users. The methods and results of this approach provide a model for researchers with similar data integration needs to easily replicate this effort at a low cost.

Shape-based classification of 3D facial data to support 22q11.2DS craniofacial research.

3D imaging systems are used to construct high-resolution meshes of patient's heads that can be analyzed by computer algorithms. Our work starts with such 3D head meshes and produces both global and local descriptors of 3D shape. Since these descriptors are numeric feature vectors, they can be used in both classification and quantification of various different abnormalities. In this paper, we define these descriptors, describe our methodology for constructing them from 3D head meshes, and show through a set of classification experiments involving cases and controls for a genetic disorder called 22q11.2 deletion syndrome that they are suitable for use in craniofacial research studies. The main contributions of this work include: automatic generation of novel global and local data representations, robust automatic placement of anthropometric landmarks, generation of local descriptors for nasal and oral facial features from landmarks, use of local descriptors for predicting various local facial features, and use of global features for 22q11.2DS classification, showing their potential use as descriptors in craniofacial research.

A Holistic approach to assess older adults' wellness using e-health technologies.

OBJECTIVES: To date, methodologies are lacking that address a holistic assessment of wellness in older adults. Technology applications may provide a platform for such an assessment, but have not been validated. We set out to demonstrate whether e-health applications could support the assessment of older adults' wellness in community-dwelling older adults. MATERIALS AND METHODS: Twenty-seven residents of independent retirement community were followed over 8 weeks. Subjects engaged in the use of diverse technologies to assess cognitive performance, physiological and functional variables, as well as psychometric components of wellness. Data were integrated from various e-health sources into one study database. Correlations were assessed between different parameters, and hierarchical cluster analysis was used to explore the validity of the wellness model. RESULTS: We found strong associations across multiple parameters of wellness within the conceptual model, including cognitive, functional, and physical. However, spirituality did not correlate with any other parameter studied in contrast to prior studies of older adults. Participants expressed overall positive attitudes toward the e-health tools and the holistic approach to the assessment of wellness, without expressing any privacy concerns. CONCLUSIONS: Parameters were highly correlated across multiple domains of wellness. Important clusters were noted to be formed across cognitive and physiological domains, giving further evidence of need for an integrated approach to the assessment of wellness. This finding warrants further replication in larger and more diverse samples of older adults to standardize and deploy these technologies across population groups.

Macronuclear genome sequence of the ciliate Tetrahymena thermophila, a model eukaryote.

The ciliate Tetrahymena thermophila is a model organism for molecular and cellular biology. Like other ciliates, this species has separate germline and soma functions that are embodied by distinct nuclei within a single cell. The germline-like micronucleus (MIC) has its genome held in reserve for sexual reproduction. The soma-like macronucleus (MAC), which possesses a genome processed from that of the MIC, is the center of gene expression and does not directly contribute DNA to sexual progeny. We report here the shotgun sequencing, assembly, and analysis of the MAC genome of T. thermophila, which is approximately 104 Mb in length and composed of approximately 225 chromosomes. Overall, the gene set is robust, with more than 27,000 predicted protein-coding genes, 15,000 of which have strong matches to genes in other organisms. The functional diversity encoded by these genes is substantial and reflects the complexity of processes required for a free-living, predatory, single-celled organism. This is highlighted by the abundance of lineage-specific duplications of genes with predicted roles in sensing and responding to environmental conditions (e.g., kinases), using diverse resources (e.g., proteases and transporters), and generating structural complexity (e.g., kinesins and dyneins). In contrast to the other lineages of alveolates (apicomplexans and dinoflagellates), no compelling evidence could be found for plastid-derived genes in the genome. UGA, the only T. thermophila stop codon, is used in some genes to encode selenocysteine, thus making this organism the first known with the potential to translate all 64 codons in nuclear genes into amino acids. We present genomic evidence supporting the hypothesis that the excision of DNA from the MIC to generate the MAC specifically targets foreign DNA as a form of genome self-defense. The combination of the genome sequence, the functional diversity encoded therein, and the presence of some pathways missing from other model organisms makes T. thermophila an ideal model for functional genomic studies to address biological, biomedical, and biotechnological questions of fundamental importance.

Using informatics to capture older adults' wellness.

PURPOSE: The aim of this paper is to demonstrate how informatics applications can support the assessment and visualization of older adults' wellness. A theoretical framework is presented that informs the design of a technology enhanced screening platform for wellness. We highlight an ongoing pilot demonstration in an assisted living facility where a community room has been converted into a living laboratory for the use of diverse technologies (including a telehealth component to capture vital signs and customized questionnaires, a gait analysis component and cognitive assessment software) to assess the multiple aspects of wellness of older adults. METHODS: A demonstration project was introduced in an independent retirement community to validate our theoretical framework of informatics and wellness assessment for older adults. Subjects are being recruited to attend a community room and engage in the use of diverse technologies to assess cognitive performance, physiological and gait variables as well as psychometrics pertaining to social and spiritual components of wellness for a period of eight weeks. Data are integrated from various sources into one study database and different visualization approaches are pursued to efficiently display potential correlations between different parameters and capture overall trends of wellness. RESULTS: Preliminary findings indicate that older adults are willing to participate in technology-enhanced interventions and embrace different information technology applications given appropriate and customized training and hardware and software features that address potential functional limitations and inexperience with computers. CONCLUSION: Informatics can advance health care for older adults and support a holistic assessment of older adults' wellness. The described framework can support decision making, link formal and informal caregiving networks and identify early trends and patterns that if addressed could reduce adverse health events.

Integrated data visualisation: an approach to capture older adults' wellness.

Informatics tools can help support the health and independence of older adults. In this paper, we present an approach towards integrating health-monitoring data and describe several techniques for the assessment and visualisation of integrated health and well-being of older adults. We present three different visualisation techniques to provide distinct alternatives towards display of the same information, focusing on reducing the cognitive load of data interpretation. We demonstrate the feasibility of integrating health-monitoring information into a comprehensive measure of wellness, while also highlighting the challenges of designing visual displays targeted at multiple user groups. These visual displays of wellness can be incorporated into personal health records and can be an effective support for informed decision-making.

An ontology-based comparative anatomy information system.

INTRODUCTION: This paper describes the design, implementation, and potential use of a comparative anatomy information system (CAIS) for querying on similarities and differences between homologous anatomical structures across species, the knowledge base it operates upon, the method it uses for determining the answers to the queries, and the user interface it employs to present the results. The relevant informatics contributions of our work include (1) the development and application of the structural difference method, a formalism for symbolically representing anatomical similarities and differences across species; (2) the design of the structure of a mapping between the anatomical models of two different species and its application to information about specific structures in humans, mice, and rats; and (3) the design of the internal syntax and semantics of the query language. These contributions provide the foundation for the development of a working system that allows users to submit queries about the similarities and differences between mouse, rat, and human anatomy; delivers result sets that describe those similarities and differences in symbolic terms; and serves as a prototype for the extension of the knowledge base to any number of species. Additionally, we expanded the domain knowledge by identifying medically relevant structural questions for the human, the mouse, and the rat, and made an initial foray into the validation of the application and its content by means of user questionnaires, software testing, and other feedback. METHODS: The anatomical structures of the species to be compared, as well as the mappings between species, are modeled on templates from the Foundational Model of Anatomy knowledge base, and compared using graph-matching techniques. A graphical user interface allows users to issue queries that retrieve information concerning similarities and differences between structures in the species being examined. Queries from diverse information sources, including domain experts, peer-reviewed articles, and reference books, have been used to test the system and to illustrate its potential use in comparative anatomy studies. RESULTS: 157 test queries were submitted to the CAIS system, and all of them were correctly answered. The interface was evaluated in terms of clarity and ease of use. This testing determined that the application works well, and is fairly intuitive to use, but users want to see more clarification of the meaning of the different types of possible queries. Some of the interface issues will naturally be resolved as we refine our conceptual model to deal with partial and complex homologies in the content. CONCLUSIONS: The CAIS system and its associated methods are expected to be useful to biologists and translational medicine researchers. Possible applications range from supporting theoretical work in clarifying and modeling ontogenetic, physiological, pathological, and evolutionary transformations, to concrete techniques for improving the analysis of genotype-phenotype relationships among various animal models in support of a wide array of clinical and scientific initiatives.

Modeling the oldest old: personas to design technology-based solutions for older adults.

There is a recognized need to develop information technology for the delivery of care services to older adults. However, little attention has been paid to the design of information technology for the oldest old demographic. We made novel use of data from observations, focus groups and cluster analysis of oldest old participant characteristics from a pilot study in a community setting to iteratively construct personas for the design of information technology for the oldest old. The resulting two personas, "Hazel" and "Rose", capture different abilities of members of the oldest old demographic group. In addition, we provide a list of eleven design recommendations to guide the design of technology that supports the abilities of people like Hazel and Rose. The resulting personas, design recommendations and persona construction method can be useful tools for informaticians and designers of new systems for the oldest old.

Automatic analysis of local nasal features in 22q11.2DS affected individuals.

The 22q11.2 deletion syndrome is a common genetic condition with an estimated prevalence between 1:2000 and 1:6000 live births in the US. The syndrome is manifested in multiple different craniofacial features. The nasal area is known to play a role in assessing the extent of dysmorphology of an individual patient. In this paper, we present a method for detecting and assessing the severity of a common nasal feature: the bulbous nasal tip. Our method locates the nose and computes four descriptors, each of which leads to a severity score. Experiments with the four severity scores and a combinations of the best two show that using all five scores gives the best prediction of bulbous nasal tip. Furthermore, the bulbous nasal tip measures outperformed the median of human experts and attains similar results to our own prior work on global descriptors [12] for prediction of 22q11.2DS.

Shape-Based Classification of 3D Head Data.

Craniofacial disorders are one of the most common category of birth defects worldwide, and are an important topic of biomedical research. In order to better understand these disorders and correlate them with genetic patterns and life outcomes, researchers need to quantify the craniofacial anatomy. In this paper we introduce several different craniofacial descriptors that are being used in research studies for two craniofacial disorders: the 22q11.2 deletion syndrome (a genetic disorder) and plagiocephaly/brachycephaly, disorders caused by pressure on the head. Experimental results show that our descriptors show promise for quantifying craniofacial shape.

A graphical user interface for a comparative anatomy information system: design, implementation and usage scenarios.

Building on our previous design work in the development of the Structural Difference Method (SDM) for describing anatomical similarities and differences across species, we describe the design and implementation of the associated comparative anatomy information system (CAIS) interface and provide scenarios from the literature for its use by research scientists.