Building a Know-How and Knowing-That Cartography to Enhance KM Processes in a Healthcare Setting

While knowledge management (KM) is becoming an established discipline with many applications and techniques, its adoption in healthcare has been challenging. It facilitates the creation, identification, acquisition, development, preservation, dissemination, and finally utilization of various facets of a healthcare enterprise’s knowledge assets. Knowledge identification and preservation are two facets of knowledge capitalization’s operations. Knowledge cartography is used nowadays as a tool for knowledge identification, sharing, and decision support. In this paper, we propose a Know-How and Knowing-That cartography for Healthcare Information System (HIS) and clinical decision support in the context of the organization of protection of the motor disabled children of Sfax-Tunisia (ASHMS). In fact, this cartography enables decision makers with general and detailed visibility of Know-How and Knowing-That mobilized in the ASHMS. It also facilitates clinical decision support by proposing the most appropriate alternatives for the continued treatment (or cessation) of each motor disabled child receiving treatment

Perspectives on next steps in classification of oro-facial pain - part 2: role of psychosocial factors

This study was initiated by a symposium, in which the present authors contributed, organised by the International RDC/TMD Consortium Network in March 2013. The purpose of the study was to review the status of biobehavioural research - both quantitative and qualitative - related to oro-facial pain (OFP) with respect to the aetiology, pathophysiology, diagnosis and management of OFP conditions, and how this information can optimally be used for developing a structured OFP classification system for research. In particular, we address representation of psychosocial entities in classification systems, use of qualitative research to identify and understand the full scope of psychosocial entities and their interaction, and the usage of classification system for guiding treatment. We then provide recommendations for addressing these problems, including how ontological principles can inform this process

NeuroBridge ontology: computable provenance metadata to give the long tail of neuroimaging data a FAIR chance for secondary use

Background Despite the efforts of the neuroscience community, there are many published neuroimaging studies with data that are still not findable or accessible. Users face significant challenges in reusing neuroimaging data due to the lack of provenance metadata, such as experimental protocols, study instruments, and details about the study participants, which is also required for interoperability. To implement the FAIR guidelines for neuroimaging data, we have developed an iterative ontology engineering process and used it to create the NeuroBridge ontology. The NeuroBridge ontology is a computable model of provenance terms to implement FAIR principles and together with an international effort to annotate full text articles with ontology terms, the ontology enables users to locate relevant neuroimaging datasets. Methods Building on our previous work in metadata modeling, and in concert with an initial annotation of a representative corpus, we modeled diagnosis terms (e.g., schizophrenia, alcohol usage disorder), magnetic resonance imaging (MRI) scan types (T1-weighted, task-based, etc.), clinical symptom assessments (PANSS, AUDIT), and a variety of other assessments. We used the feedback of the annotation team to identify missing metadata terms, which were added to the NeuroBridge ontology, and we restructured the ontology to support both the final annotation of the corpus of neuroimaging articles by a second, independent set of annotators, as well as the functionalities of the NeuroBridge search portal for neuroimaging datasets. Results The NeuroBridge ontology consists of 660 classes with 49 properties with 3,200 axioms. The ontology includes mappings to existing ontologies, enabling the NeuroBridge ontology to be interoperable with other domain specific terminological systems. Using the ontology, we annotated 186 neuroimaging full-text articles describing the participant types, scanning, clinical and cognitive assessments. ConclusionThe NeuroBridge ontology is the first computable metadata model that represents the types of data available in recent neuroimaging studies in schizophrenia and substance use disorders research; it can be extended to include more granular terms as needed. This metadata ontology is expected to form the computational foundation to help both investigators to make their data FAIR compliant and support users to conduct reproducible neuroimaging research

Neuromarketing: a review of research and implications for marketing

In this research, we reviewed existing studies which used neuromarketing techniques in various fields of research. The results revealed that most attempts in neuromarketing have been made for business research. This research provides important results on the use of neuromarketing techniques, their limitations and implications for marketing research. We hope that this research will provide useful information about the neuromarketing techniques, their applications and help the researchers in conducting the research on neuromarketing with insight into the state-of-the-art of development methods

Circadian Rhythm and Vigorous Activity: Do They Make a Difference in Executive Function?

PL 107-110, the No Child Left Behind Act of 2001, a federally mandated accountability system based on standards, attendance, and dropout rates has forced educational leaders to explore new avenues of student improvement. Research suggests that all three factors are impacted by scheduling preferences that are relative to time of day. The aim of this study was to extend evidence of executive function as it is impacted by time of day and diurnal preference when exposed to vigorous exercise conditions. Data were collected from a sample that included 100 sixth graders (60 females and 40 males) during the spring semester 2011 from two southern parishes in Louisiana. Diurnal preferences were identified using the Morningness/Eveningness Scale for Children (Carskadon, Vieira, & Acebo, 1993). A pre-test and post-test of the Wisconsin Card Sorting Test- 64 (WCST-64) were performed during preferred and non-preferred times to indicate executive function changes. The post-test was performed after completion of the Multiple Level 20 meter shuttle run to simulate vigorous exercise conditions. A two-way ANOVA analysis with repeated measures on the WCST-64 did not yield any significant findings to support time of day or diurnal preference impact on executive function when exposed to vigorous exercise conditions

The emergence of information systems: a communication-based theory

An information system is more than just the information technology; it is the system that emerges from the complex interactions and relationships between the information technology and the organization. However, what impact information technology has on an organization and how organizational structures and organizational change influence information technology remains an open question. We propose a theory to explain how communication structures emerge and adapt to environmental changes. We operationalize the interplay of information technology and organization as language communities whose members use and develop domain-specific languages for communication. Our theory is anchored in the philosophy of language. In developing it as an emergent perspective, we argue that information systems are self-organizing and that control of this ability is disseminated throughout the system itself, to the members of the language community. Information technology influences the dynamics of this adaptation process as a fundamental constraint leading to perturbations for the information system. We demonstrate how this view is separated from the entanglement in practice perspective and show that this understanding has far-reaching consequences for developing, managing, and examining information systems

Measuring and estimating the effect of copy number variants on autism spectrum disorder and early-onset psychosis risk

Les variations du nombre de copies (i.e., VNC, perte ou gain de matériel génétique de plus de 1 kilobase) figurent parmi les facteurs biologiques les plus associés aux troubles neurodéveloppementaux (TNDs), tels que les troubles du spectre autistique (TSAs) ou la psychose précoce. Les variants génétiques classés comme pathogéniques sont identifiés chez environ 20% des enfants avec des symptômes de TSA référés en génétique clinique. Actuellement, seules les VNCs les plus récurrentes (i.e., plusieurs individus non apparentés ont le même variant) ont été associées avec les TSAs et leurs tailles d’effets ont pu être décrites avec précision grâce à des études d'associations (i.e., cas-contrôles). Cependant, la plupart des VNCs identifiées dans les cliniques neurodéveloppementales et génétiques sont ultra-rares. À ma connaissance, aucune méthode n’a été développée afin d’estimer et de prédire de façon précise la contribution de tels variants aux phénotypes cliniques. De ce fait, l’impact de ces variants ultra-rares sur les risques d'avoir des TNDs, comme les TSAs ou la psychose précoce, reste incertain. Une étude récente de mon groupe de recherche a démontré que les tailles d'effet des délétions et duplications à travers le génome sur les capacités cognitives pouvaient être prédites statistiquement avec 78% de précision en utilisant des mesures d'intolérance à la perte de fonction. Le but de cette thèse est de développer des modèles similaires pour définir les tailles d'effet des VNCs à travers le génome sur les risques de TSA et de psychose précoce, ainsi que sur quelques traits cognitifs et comportementaux affectés dans ces troubles. J’ai analysé tous les VNCs ≥ 50 kilobases identifiées via les données de puces de génotypage et de séquençage sur génome entier chez 137 enfants et adolescents avec une psychose précoce (Boston Children’s hospital), 5,540 probands avec des TSAs (Simons Simplex Collection et MSSNG), et 17,471 personnes de la population générale (Lothian birth cohort, Generation Scotland, IMAGEN et Saguenay Youth Study). Les gènes codants totalement compris dans les VNCs ont été annotés avec neufs variables quantitatives, incluant le score d’intolérance à la perte de fonction et d’autres scores fonctionnels et génétiques. Des modèles statistiques incluant ces scores ont été testés afin de sélectionner celui qui explique le mieux l’effet des VNCs à travers le génome sur le risque de TSA et le quotient intellectuel (QI). Le meilleur modèle a été utilisé par la suite pour investiguer les tailles d’effets des VNCs sur d’autres traits cognitifs et comportementaux liés aux TSAs, ainsi que sur le risque de psychose précoce. Le score d’intolérance à la perte de fonction expliquait le mieux les effets des VNCs sur le risque de TSA et la cognition générale. Les modèles incluant ces scores ont démontré que les délétions et les duplications augmentaient les risques de psychose précoce et de TSA, même après ajustement pour le QI. Il n’y avait aucune différence de tailles d’effets des VNCs entre la psychose précoce et le TSA. La fréquence de loci associé précédemment avec des TNDs et des troubles neuropsychiatriques était également similaire entre dans les TSA et la psychose précoce, et le modèle estimait précisément la taille d'effet de la plupart de ces loci sur le risque de TSA en comparaison aux observation empiriques publiées précédemment. Les CNVs à travers le génome mesurés par le score d’intolérance à la perte de fonction diminuaient de façon similaire le QI dans les populations TSA et générale. Les effets des duplications étaient systématiquement plus faibles que les effets des délétions pour chacun de ces phénotypes, ce qui suggère un effet plus pathogénique des délétions. Les délétions et les duplications affectaient différentiellement la communication sociale, les comportements, et la mémoire phonologique, tandis qu'elles affectaient similairement les capacités motrices dans les populations TSA. L'enrichissement similaire des VNCs à travers le génome dans la psychose précoce et le TSA suggère un effet pléiotropique des VNCs dans ces différentes symptomatologies. Le dépistage routinier pour les VNCs doit être accessible dans les soins cliniques standards des jeunes avec une psychose précoce, comme il est recommandé pour les TSAs. Une telle pratique contribue à établir une médecine personnalisée et peut apporter des bénéfices médicaux comme la détection de comorbidités, la prédiction de la progression de la maladie, et faciliter la communication avec les parents à propos de la nature biologique du trouble. Les modèles appliqués dans ce projet, entraînés sur des VNCs incluant plus de 4,500 gènes, suggèrent des propriétés hautement polygéniques du dosage génique dans les TNDs. J’ai estimé que chaque VNC de 1 mégabase, incluant au moins un gène scorant pour l’intolérance à la perte de fonction, augmente le risque de TSA. La combinaison de ces résultats ouvre de nouvelles perspectives dans la compréhension des effets des VNCs à travers le génome sur les TNDs et les traits associés (e.g., QI ou symptômes comportementaux). Ces modèles ont été implémentés dans un outil en ligne qui a pour but d'aider les cliniciens à estimer les tailles d’effet des VNCs identifiés en clinique et à interpréter leur contribution au phénotype du patient.Copy number variants (CNVs; i.e., loss or gain of genetic material of over 1 kilobase) are robustly associated with neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and early-onset psychosis (EOP). Genetic variants classified as pathogenic are identified in approximately 20% of children with ASD symptoms referred to genetic clinics. To date, only the most recurrent CNVs (i.e., similar variants across multiple unrelated individuals) were associated with ASD and their effect-sizes were characterized through association studies (i.e., case-controls). However, most of the CNVs routinely identified in neurodevelopmental and genetic clinics are ultra-rare. To my knowledge, no method was developed to accurately estimate and predict the contribution of such variants to clinical phenotypes. Therefore, the impact of these ultra-rare variants on risk for NDDs, such as ASD and EOP, remains undocumented. A recent study from my research group has shown that the effect-size of genome-wide deletions and duplications on cognitive ability can be statistically predicted with an 78% accuracy using measures of loss-of-function (LoF) intolerance. The aim of this thesis was to develop similar models to define the effect-size of genome-wide CNVs on ASD and EOP risk, as well as on several cognitive and behavioral traits altered in these disorders. I analyzed all CNVs ≥ 50 kilobases called from genotyping arrays and whole genome sequencing data from 137 children and adolescents with EOP (Boston Children’s hospital), 5,540 probands with ASD (Simons Simplex Collection and MSSNG), and 17,471 individuals from unselected populations (Lothian birth cohort, Generation Scotland, IMAGEN and Saguenay Youth Study). Coding genes fully encompassed by CNVs were annotated with nine quantitative variables, including the LoF intolerance score and other functional and genetic scores. Statistical models including these scores were tested to select the one that best explained the effects of genome-wide CNVs on ASD risk and IQ. The best model was subsequently used to investigate the effect-size of genome-wide CNVs on cognitive and behavioral domains related to ASD, as well as on EOP risk. The LoF intolerance score best explained the effect-sizes of genome-wide CNVs on ASD-risk and general cognition. Models including such scores demonstrated that deletions or duplications increased risks for EOP and for ASD, even after adjusting for IQ. There was no difference in effect-sizes between EOP and ASD. The frequency of loci previously associated with NDDs or neuropsychiatric disorders was also similar between EOP and ASD, and the model accurately estimated the effect-size of most of these loci on the risk for ASD comparing to previously published empirical observations. Genome-wide CNVs measured by LoF intolerance score also similarly decreased IQ in both ASD and unselected populations. The effect of duplications was smaller than the effect of deletion for all phenotypes investigated, suggesting a higher pathogenicity of deletions. Deletions and duplications were found to differentially affect social communication, behavior, and phonological memory, whereas both equally affected motor skills in the ASD population. The identical enrichment of genome-wide CNVs in EOP and ASD suggests a pleiotropic effect of CNVs in these different symptomatology. Routine screening for CNVs should be made available in the standard clinical care for EOP youth, as is recommended in ASD. Such practice contributes to the establishment of personalized medicine and may bring medical benefits as detecting medical comorbidities, prediction of the disease progression, and facilitating the communication with parents about the biological nature of the disorder. The models applied in this project, trained on CNVs encompassing more than 4,500 genes, suggest highly polygenic properties of gene dosage in NDDs. I estimated that any 1 megabase CNV, encompassing at least one gene scoring for intolerance to LoF, would increase ASD risk. Overall, these results open new avenues for understanding the effect of genome-wide CNVs on NDD risk and related traits (e.g., IQ or behavioral symptoms). These models were implemented in an online tool which aims to help clinicians estimate the effect-size of CNVs identified in the clinic and interpret their contribution to the patient’s phenotype