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1.
JMIR Form Res ; 8: e54009, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-39088821

ABSTRACT

BACKGROUND: A coordinated care system helps provide timely access to treatment for suspected acute stroke. In Northwestern Ontario (NWO), Canada, communities are widespread with several hospitals offering various diagnostic equipment and services. Thus, resources are limited, and health care providers must often transfer patients with stroke to different hospital locations to ensure the most appropriate care access within recommended time frames. However, health care providers frequently situated temporarily (locum) in NWO or providing care remotely from other areas of Ontario may lack sufficient information and experience in the region to access care for a patient with a time-sensitive condition. Suboptimal decision-making may lead to multiple transfers before definitive stroke care is obtained, resulting in poor outcomes and additional health care system costs. OBJECTIVE: We aimed to develop a tool to inform and assist NWO health care providers in determining the best transfer options for patients with stroke to provide the most efficient care access. We aimed to develop an app using a comprehensive geomapping navigation and estimation system based on machine learning algorithms. This app uses key stroke-related timelines including the last time the patient was known to be well, patient location, treatment options, and imaging availability at different health care facilities. METHODS: Using historical data (2008-2020), an accurate prediction model using machine learning methods was developed and incorporated into a mobile app. These data contained parameters regarding air (Ornge) and land medical transport (3 services), which were preprocessed and cleaned. For cases in which Ornge air services and land ambulance medical transport were both involved in a patient transport process, data were merged and time intervals of the transport journey were determined. The data were distributed for training (35%), testing (35%), and validation (30%) of the prediction model. RESULTS: In total, 70,623 records were collected in the data set from Ornge and land medical transport services to develop a prediction model. Various learning models were analyzed; all learning models perform better than the simple average of all points in predicting output variables. The decision tree model provided more accurate results than the other models. The decision tree model performed remarkably well, with the values from testing, validation, and the model within a close range. This model was used to develop the "NWO Navigate Stroke" system. The system provides accurate results and demonstrates that a mobile app can be a significant tool for health care providers navigating stroke care in NWO, potentially impacting patient care and outcomes. CONCLUSIONS: The NWO Navigate Stroke system uses a data-driven, reliable, accurate prediction model while considering all variations and is simultaneously linked to all required acute stroke management pathways and tools. It was tested using historical data, and the next step will to involve usability testing with end users.

2.
BMC Public Health ; 24(1): 2043, 2024 Jul 30.
Article in English | MEDLINE | ID: mdl-39080573

ABSTRACT

BACKGROUND: Despite increasing global attention to health literacy and adolescents' digital health information seeking, no unidimensional instruments measuring digital health literacy (DHL) in adolescents have reportedly been validated using Rasch modeling. Moreover, the evidence of adolescents' abilities to navigate the health system (NAV-HL) in light of their DHL proficiency is still scarce. Therefore, our study aims to evaluate the psychometric properties of a DHL instrument (HLS19-DIGI scale) in order to investigate DHL in adolescents and young adults aged 16-25 and associations with abilities to navigate the health system. METHODS: A population-based cross-sectional survey among 890 Norwegian adolescents was conducted during April-October 2020 using computer-assisted telephone interviewing. Rasch modeling, independent samples t-test, chi-square test, and binary regression models were used to analyze the data. RESULTS: The HLS19-DIGI scale was sufficiently unidimensional, whereas no differential item functioning or disordered response categories were observed. However, relatively poor targeting was revealed indicating too many easy items for the target population. Yet, a high proportion (54%) of low DHL proficiency in adolescents was observed, as well as DHL was positively associated with the abilities to navigate the health system. CONCLUSIONS: The HLS19-DIGI scale is considered a sufficiently unidimensional and valid instrument for measuring DHL in adolescents, which may be a useful tool for health authorities, public health workers, and health service providers. While DHL affects adolescents' abilities to navigate the health system, future research should measure and examine their ability to utilize digital health services, separately.


Subject(s)
Health Literacy , Psychometrics , Humans , Norway , Adolescent , Health Literacy/statistics & numerical data , Male , Female , Cross-Sectional Studies , Young Adult , Adult , Surveys and Questionnaires , Reproducibility of Results
3.
Int J Pharm ; 659: 124117, 2024 Jun 25.
Article in English | MEDLINE | ID: mdl-38615805

ABSTRACT

Inflammatory bowel disease (IBD) is a chronic gastrointestinal disorder characterized by immune dysregulation and intestinal inflammation. Rapamycin (Ra), an mTORC1 pathway inhibitor, has shown promise for autophagy induction in IBD therapy but is associated with off-target effects and toxicity. To address these issues, we developed an oral liposome responsive to reactive oxygen species (ROS) using lipids and amphiphilic materials. We combined ketone thiol (TK) for ROS responsive and hyaluronic acid (HA) with high affinity for CD44 receptors to prepare rapamycin-loaded nanoparticle (Ra@TH). Owing to its ROS responsive characteristic, Ra@TH can achieve inflammatory colonic targeting. Additionally, Ra@TH can induce autophagy by inhibiting the mTORC1 pathway, leading to the clearance of damaged organelles, pathogenic microorganisms and oxidative stress products. Simultaneously, it also collaboratively inhibits the NF-κB pathway suppressed by the removal of ROS resulting from TK cleavage, thereby mediating the expression of inflammatory factors. Furthermore, Ra@TH enhances the expression of typical tight junction proteins, synergistically restoring intestinal barrier function. Our research not only expands the understanding of autophagy in IBD treatment but also introduces a promising therapeutic approach for IBD patients.


Subject(s)
Autophagy , Hyaluronic Acid , Inflammatory Bowel Diseases , Nanoparticles , Reactive Oxygen Species , Sirolimus , Autophagy/drug effects , Reactive Oxygen Species/metabolism , Inflammatory Bowel Diseases/drug therapy , Humans , Sirolimus/administration & dosage , Sirolimus/pharmacology , Animals , Hyaluronic Acid/chemistry , Liposomes , NF-kappa B/metabolism , Mice , Nanomedicine/methods , Mechanistic Target of Rapamycin Complex 1/metabolism , Hyaluronan Receptors/metabolism , Male
4.
J Clin Endocrinol Metab ; 109(5): 1155-1178, 2024 Apr 19.
Article in English | MEDLINE | ID: mdl-38381587

ABSTRACT

Diabetes can be an arduous journey both for people with diabetes (PWD) and their caregivers. While the journey of every person with diabetes is unique, common themes emerge in managing this disease. To date, the experiences of PWD have not been fully considered to successfully implement the recommended standards of diabetes care in practice. It is critical for health-care providers (HCPs) to recognize perspectives of PWD to achieve optimal health outcomes. Further, existing tools are available to facilitate patient-centered care but are often underused. This statement summarizes findings from multistakeholder expert roundtable discussions hosted by the Endocrine Society that aimed to identify existing gaps in the management of diabetes and its complications and to identify tools needed to empower HCPs and PWD to address their many challenges. The roundtables included delegates from professional societies, governmental organizations, patient advocacy organizations, and social enterprises committed to making life better for PWD. Each section begins with a clinical scenario that serves as a framework to achieve desired health outcomes and includes a discussion of resources for HCPs to deliver patient-centered care in clinical practice. As diabetes management evolves, achieving this goal will also require the development of new tools to help guide HCPs in supporting PWD, as well as concrete strategies for the efficient uptake of these tools in clinical practice to minimize provider burden. Importantly, coordination among various stakeholders including PWD, HCPs, caregivers, policymakers, and payers is critical at all stages of the patient journey.


Subject(s)
Diabetes Mellitus , Humans , Diabetes Mellitus/therapy , Health Personnel , Attitude of Health Personnel , Patient-Centered Care , Patient Outcome Assessment
5.
Cureus ; 15(10): e46505, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37927677

ABSTRACT

This case report and literature review presents a detailed exploration of the diagnosis and management of laryngeal tuberculosis, emphasizing the challenges encountered in dealing with rare and multifaceted medical conditions. Through a systematic analysis of the patient's clinical journey and an insightful review of pertinent literature, the study underscores the complexity inherent in diagnosing primary laryngeal tuberculosis and highlights the growing relevance of this rare extrapulmonary manifestation. The case showcases the significance of a comprehensive diagnostic approach, the collaboration of diverse medical specialists, adherence to established treatment guidelines, and the crucial role of continuous patient monitoring. The successful resolution of this intricate case serves as a compelling testament to the power of interdisciplinary coordination and precision medicine, providing valuable insights into navigating the intricate landscape of laryngeal tuberculosis.

6.
BMC Pregnancy Childbirth ; 23(1): 638, 2023 Sep 05.
Article in English | MEDLINE | ID: mdl-37670269

ABSTRACT

BACKGROUND: A low educational level and poor economic status have repeatedly been identified as the main risk factors of peripartum depression among migrant women in existing studies. However, there is limited knowledge about a group of highly educated and middle-class migrant women, and how this group of migrant women deals with those risks and which protective factors facilitate a successful transition into motherhood in the host country. This study aims to shed light on the multifaceted psychosocial challenges during the peripartum period for Chinese migrant women in their relationships with intimate partners, mothers, and mothers-in-law. METHODS: In this qualitative study, semi-structured in-depth interviews were conducted digitally with 46 pregnant and postpartum middle-class Chinese migrant women with peripartum depressive symptoms in the Netherlands. The interview data were analyzed using content analysis. RESULTS: The multifaceted psychosocial challenges for women with peripartum depressive symptoms were classified into three key categories: the ambivalence towards different mothering values, perceived inadequate and mismatching social support and adverse childhood experiences. CONCLUSION: Well-educated middle-class Chinese migrant women with peripartum depressive symptoms faced challenges in the transition into motherhood due to the unmet self-expectations regarding the pursuit of a good quality of life and a happy motherhood. The nurturing intimate relationships and adequate social support in the host country have mitigated recollections of their adverse childhood experiences. Future prevention programs and postpartum care should consider the contextual specificity based on the childhood history. International mental health research should pay more attention to the growing and potentially vulnerable group of well-educated middle-class migrant women.


Subject(s)
Depression , Transients and Migrants , Pregnancy , Humans , Female , Netherlands , East Asian People , Peripartum Period , Quality of Life , Mothers
7.
Eval Program Plann ; 97: 102263, 2023 04.
Article in English | MEDLINE | ID: mdl-36893706

ABSTRACT

Projects and programs have long been the primary instrument for achieving development goals in low- and middle-income countries. One criticism of the project-focused approach is its failure to focus on broader system-level changes. This paper explores how Mayne's COM-B Theory of Change model can enhance the evaluation of how projects and system-level investments can lead to system-level changes, especially in a development context. Using a real-world example, we offer several evaluation questions to initiate thinking about what might be needed to extend the ideas in the COM-B theory of change to facilitate better interrogation of systems-level change efforts.


Subject(s)
Motivation , Humans , Program Evaluation
8.
BMC Public Health ; 23(1): 392, 2023 02 25.
Article in English | MEDLINE | ID: mdl-36841764

ABSTRACT

As a response to the complexity of reducing health inequity there has been a rise in community-based health promotion interventions adhering to the principles of complexity thinking. Such interventions often work with adaptive practice and constitute themselves in complex webs of collaborations between multiple stakeholders. However, few efforts have been made to articulate how complexity can be navigated and addressed by stakeholders in practice. This study explores how partners experience and navigate complexity in the partnership behind Tingbjerg Changing Diabetes (TCD), a community-based intervention addressing health and social development in the disadvantaged neighborhood of Tingbjerg in urban Copenhagen. The study provides important insights on the role of context and how it contributes complexity in community-based health promotion.The study is based on 18 months of ethnographic fieldwork in the local community including participant observations and 9 in-depth interviews with key partner representatives. Findings show that complexity in TCD can be characterized by unpredictability in actions and outcomes, undefined purpose and direction, and differing organizational logics. Factors that support partners' navigation in complexity include connectivity, embracing a flexible intervention framework, autonomy, and quick responsiveness. The study showcases the interdependency between the intervention and the context of the disadvantaged neighborhood of Tingbjerg and encourages stakeholders and researchers to embrace the messiness of complexity, and to pay attention to ways through which messiness and unpredictability can be handled.


Subject(s)
Diabetes Mellitus , Health Promotion , Humans , Public Health , Vulnerable Populations , Denmark
9.
J Intellect Disabil Res ; 66(12): 1009-1022, 2022 12.
Article in English | MEDLINE | ID: mdl-35510305

ABSTRACT

BACKGROUND: The study's aim was to examine whether spatial orientation can be improved in students with cognitive disabilities. METHOD: Participants were 55 boys and girls with attention deficit and mild cognitive impairment from a special education school. The procedure included an intervention for two experimental groups that studied wayfinding and orientation in the environment: group #1 learned to use a map while navigating, and group #2 learned to use a Google navigation app with voice instructions. Two pre-post tests were applied: (1) Mental folding test for children (MFTC) and (2) field test with map. RESULTS: Both groups improved their ability in navigation and wayfinding. No advantage for one learning method over the other was demonstrated, except for shortened navigation time in the group navigating with a map, and a slight though not significant tendency of improvement in the MFTC task in the group learning navigation using a voice app. CONCLUSION: It is worth noting that the study did not examine the students' own preferences for the way of learning, which may have implications for the degree of possible improvement. Also, a longer period of the learning process might yield a clearer understanding concerning the differences between the two teaching methods that were examined.


Subject(s)
Intellectual Disability , Spatial Navigation , Male , Child , Female , Adolescent , Humans , Space Perception , Learning
10.
J Chem Inf Model ; 62(9): 2021-2034, 2022 05 09.
Article in English | MEDLINE | ID: mdl-35421301

ABSTRACT

Designing new medicines more cheaply and quickly is tightly linked to the quest of exploring chemical space more widely and efficiently. Chemical space is monumentally large, but recent advances in computer software and hardware have enabled researchers to navigate virtual chemical spaces containing billions of chemical structures. This review specifically concerns collections of many millions or even billions of enumerated chemical structures as well as even larger chemical spaces that are not fully enumerated. We present examples of chemical libraries and spaces and the means used to construct them, and we discuss new technologies for searching huge libraries and for searching combinatorially in chemical space. We also cover space navigation techniques and consider new approaches to de novo drug design and the impact of the "autonomous laboratory" on synthesis of designed compounds. Finally, we summarize some other challenges and opportunities for the future.


Subject(s)
Drug Discovery , Small Molecule Libraries , Drug Design , Drug Discovery/methods , Small Molecule Libraries/chemistry , Small Molecule Libraries/pharmacology
11.
Philos Ethics Humanit Med ; 17(1): 2, 2022 01 28.
Article in English | MEDLINE | ID: mdl-35086524

ABSTRACT

BACKGROUND: The contemporary frameworks for clinical research require informed consent for research participation that includes disclosure of material information, comprehension of disclosed information and voluntary consent to research participation. There is thus an urgent need to test, and an ethical imperative, to test, modify or refine medications or healthcare plans that could reduce patient morbidity, lower healthcare costs or strengthen healthcare systems. METHODS: Conceptual review. DISCUSSION: Although some allocation principles seem better than others, no single moral principle allocates interventions justly, necessitating combining the moral principles into multiprinciple allocation systems. The urgency notwithstanding, navigating ethical challenges related to conducting corona virus disease (COVID-19) clinical trials is mandatory, in order to safeguard the safety and welfare of research participants, ensure autonomy of participants, reduce possibilities for exploitation and ensure opportunities for research participation. The ethical challenges to can be categorized as challenges in allocation of resources for research; challenges of clinical equipoise in relation to the research questions; challenges of understanding disclosed information in potential participants; and challenges in obtaining informed consent. CONCLUSION: To navigate these challenges, stakeholders need a delicate balance of moral principles during allocation of resources for research. Investigators need to apply information processing theories to aid decision-making about research participation or employ acceptable modifications to improve the informed consent process. Research and ethics committees should strengthen research review and oversight to ensure rigor, responsiveness and transparency.


Subject(s)
COVID-19 , Ethics Committees, Research , Humans , Informed Consent , Randomized Controlled Trials as Topic , SARS-CoV-2
12.
ACS Nano ; 15(12): 20116-20126, 2021 12 28.
Article in English | MEDLINE | ID: mdl-34793113

ABSTRACT

Extrasensory neuromorphic devices that can recognize, memorize, and learn stimuli imperceptible to human beings are of considerable interest in interactive intelligent electronics research. This study presents an artificially intelligent magnetoreceptive synapse inspired by the magnetocognitive ability used by birds for navigation and orientation. The proposed synaptic platform is based on arrays of ferroelectric field-effect transistors with air-suspended magneto-interactive top-gates. A suspended gate of an elastomeric composite with superparamagnetic particles laminated with an electrically conductive polymer is mechanically deformed under a magnetic field, facilitating control of the magnetic-field-dependent contact area of the suspended gate with an underlying ferroelectric layer. The remanent polarization of the ferroelectric layer is electrically programmed with the deformed suspended gate, resulting in analog conductance modulation as a function of the magnitude, number, and time interval of the input magnetic pulses. The proposed extrasensory magnetoreceptive synapse may be used as an artificially intelligent synaptic compass that facilitates barrier-adaptable navigation and mapping of a moving object.


Subject(s)
Synapses , Transistors, Electronic , Electric Conductivity , Electronics , Humans
13.
Nano Lett ; 21(19): 8086-8094, 2021 10 13.
Article in English | MEDLINE | ID: mdl-34559543

ABSTRACT

Inspired by the tactic organisms in Nature that can self-direct their movement following environmental stimulus gradient, we proposed a DNase functionalized Janus nanoparticle (JNP) nanomotor system for the first time, which can be powered by ultralow nM to µM levels of DNA. The system exhibited interesting chemotactic behavior toward a DNA richer area, which is physiologically related with many diseases including tumors. In the presence of the subtle DNA gradient generated by apoptotic tumor cells, the cargo loaded nanomotors were able to sense the DNA signal released by the cells and demonstrate directional motion toward tumor cells. For our system, the subtle DNA gradient by a small amount (10 µL) of tumor cells is sufficient to induce the chemotaxis behavior of self-navigating and self-targeting ability of our nanomotor system, which promises to shed new light for tumor diagnosis and therapy.


Subject(s)
Chemotaxis , Neoplasms , DNA , Humans , Motion , Neoplasms/drug therapy
14.
Soc Neurosci ; 16(5): 467-485, 2021 10.
Article in English | MEDLINE | ID: mdl-34404321

ABSTRACT

The posterior cerebellum is responsible for the understanding and learning of sequences of actions by others, which are a prerequisite for social understanding. This study investigates this cerebellar function while navigating toward a goal in a social context. Participants undertook a novel social navigation task requiring them to memorize and subsequently reproduce a protagonist's trajectory through a grid toward a desirable goal. As a nonsocial control condition, a ball underwent the same trajectory by passively rolling through the grid toward the same endpoint. To establish that memorizing and reproducing a trajectory is a critical cerebellar function, two non-sequencing control conditions were created, which involved the observation only of the trajectory by the protagonist or ball. Our results showed that the posterior cerebellar Crus II was involved in memorizing both social and nonsocial trajectories, along with the parahippocampal gyrus and other cortical areas involved in social cognition. As hypothesized, cerebellar Crus I was more active when memorizing social as opposed to nonsocial trajectories. Moreover, cerebellar Crus I and II, and lobule VI, were activated when reproducing both social and nonsocial trajectories. These findings highlight the involvement of the posterior cerebellar Crus in supporting human goal-directed social navigation.


Subject(s)
Brain Mapping , Goals , Cerebellum , Humans , Learning , Magnetic Resonance Imaging , Social Cognition
15.
Phys Imaging Radiat Oncol ; 17: 32-35, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33898775

ABSTRACT

Radiotherapy planning for lung cancer typically requires both 3D and 4D Computed Tomography (CT) to account for respiratory related movement. 4D Magnetic Resonance Imaging (MRI) with self-navigation offers a potential alternative with greater reliability in patients with irregular breathing patterns and improved soft tissue contrast. In this study 4D-CT and a 4D-MRI Radial Volumetric Interpolated Breath-hold Examination (VIBE) sequence was evaluated with a 4D phantom and 13 patient respiratory patterns, simulating tumour motion. Quantification of motion related tumour displacement in 4D-MRI and 4D-CT found no statistically significant difference in mean motion range. The results demonstrated the potential viability of 4D-MRI for lung cancer treatment planning.

16.
Article in English | MEDLINE | ID: mdl-32796518

ABSTRACT

The study explored how older adults experience an HIV diagnosis, deal with issues of stigma and disclosure, and navigate the healthcare system. Descriptive phenomenology was used to collect data from 20 older adults receiving antiretroviral treatment in health facilities in Gauteng Province, South Africa. Data analysis was inductive and followed the thematic approach. After diagnosis with HIV, the older adults experienced shock and disbelief, internalized their new reality of being HIV-positive, and found it difficult to disclose their HIV status. Stigma was embedded in their patterns of disclosure, and they chose not to disclose in order to manage stigma, protect their status, and maintain their privacy. Moreover, nondisclosure allowed them to achieve some normality in their lives without the fear of rejection. The older adults adopted various survival skills that aided them to accept their HIV status. Self-acceptance was important for the older adults who did not want to feel cheated out of life by the HIV diagnosis. The positive supportive attitudes of the healthcare professionals provided the much-needed support network for the older adults immediately after they had received their HIV test results. This was instrumental in their acceptance of their HIV status, their adherence to clinic visits, and their ability to live a healthy, positive life.


Subject(s)
HIV Infections , Social Stigma , Aged , Anti-Retroviral Agents , Black People , Female , Humans , Male , Middle Aged , South Africa
17.
Int J Comput Assist Radiol Surg ; 15(6): 1063-1067, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32242298

ABSTRACT

PURPOSE: Autonomously self-navigating clinical assistance systems (ASCAS) seem highly promising for improving clinical workflows. There is great potential for easing staff workload and improving overall efficiency by reducing monotonous and physically demanding tasks. However, a seamless integration of such systems into complex human-supervised clinical workflows is challenging. As of yet, guiding principles and specific approaches for solving this problem are lacking. METHODS: We propose to treat ASCAS orchestration as a scheduling problem. However, underlying objectives and constraints for this scheduling problem differ considerably from those found in other domains (e.g., manufacturing, logistics). We analyze the clinical environment to deduce unique needs and conclude that existing scheduling approaches are not sufficient to overcome these challenges. RESULTS: We present four guiding principles, namely human precedence, command structure, emergency context and immediacy, that govern the integration of self-navigating assistance systems into clinical workflows. Based on these results, we propose our approach, namely Auto-Navigation Task Scheduling for Operating Rooms (ANTS-OR), for solving the ASCAS orchestration problem in a surgical application scenario, employing a score-based scheduling strategy. CONCLUSION: The proposed approach is a first step toward addressing the ASCAS orchestration problem for the OR wing. We are currently advancing and validating our concept using a simulation environment and aim at realizing a dynamic end-to-end ASCAS orchestration platform in the future.


Subject(s)
Operating Rooms , Robotics/methods , Task Performance and Analysis , Workload , Algorithms , Computer Simulation , Health Services Needs and Demand , Humans , Personnel Staffing and Scheduling , Personnel Staffing and Scheduling Information Systems , Planning Techniques , Workflow
18.
Dementia (London) ; 19(7): 2399-2414, 2020 Oct.
Article in English | MEDLINE | ID: mdl-30626193

ABSTRACT

Post graduate education in dementia care is delivered by a number of academic institutions worldwide. Aimed primarily at people in advanced and specialised roles in health and social care, it is designed to develop the knowledge and skills to advance practice and lead to positive changes and benefits to people living with dementia and their social networks. However, undertaking Master's level education can be challenging, particularly when this is undertaken alongside full-time work and family/domestic commitments. To illuminate this student experience further, this paper takes a case study approach to explore the experiences of three students who have successfully completed a Master's programme in dementia care in the North West of England. Their individual and collective experiences highlight the challenges of juggling competing demands and the dynamic processes of navigating the student journey and continually negotiating supports in order to successfully complete the course. The study highlights important implications for the design and supportive structures within post graduate Master's education in dementia care/studies, and potentially in other subject areas also, in order to support students' transition to post graduate study.


Subject(s)
Dementia , Education, Nursing, Graduate , Dementia/therapy , England , Humans , Negotiating , Students
19.
BMC Med Genomics ; 12(1): 173, 2019 11 27.
Article in English | MEDLINE | ID: mdl-31775751

ABSTRACT

BACKGROUND: Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants. METHODS: Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor. Action taken following receipt of this information was reviewed. RESULTS: Genetic data was generated in 1963 of 7408 participants. Fifty-nine new findings were presented to the RRR committee; 20 (34%) were deemed reportable. Twelve were returned to the physician, of which 7 were disclosed to participants (median time to disclosure, 192 days). Seven findings were returned to the research genetic counselor; all have been disclosed (median time to disclosure, 19 days). Twelve families (86%) opted for referral to clinical genetics after disclosure of findings; 7 results have been validated, 5 results are pending. Average cost of return and disclosure per reportable finding incurred by the research program was $750 when utilizing a research genetic counselor; clinical costs associated with return were not included. CONCLUSIONS: Return of actionable research findings was faster if disclosed directly to the participant by a research genetic counselor. There was a high acceptability amongst participants for receiving the findings, for referral to clinical genetics, and for clinical validation of research findings, with all referred cases being clinically confirmed.


Subject(s)
Databases, Factual , Genomics/methods , Pediatrics , Costs and Cost Analysis , Humans
20.
Healthc Technol Lett ; 6(2): 42-47, 2019 Apr.
Article in English | MEDLINE | ID: mdl-31119037

ABSTRACT

People with Alzheimer's disease (AD) have characteristic problems navigating everyday environments. While patients may exhibit abnormal gait parameters, adaptive gait irregularities when navigating environments are little explored or understood. The aim of this study was to assess adaptive locomotor responses of AD subjects in a complex environment requiring spatial navigation. A controlled environment of three corridors was set up: straight (I), U-shaped (U) and dog-leg (S). Participants were asked to walk along corridors as part of a counterbalanced repeated-measures design. Three groups were studied: 11 people with posterior cortical atrophy (PCA), 10 with typical Alzheimer's disease (tAD) and 13 controls. Spatio-temporal gait parameters and position within the corridors were monitored with shoe-mounted inertial measurement units (IMUs). Hesitant steps were identified from statistical analysis of the distribution of step time data. Walking paths were generated from position data calculated by double integration of IMU acceleration. People with PCA and tAD had similar gait characteristics, having shorter steps and longer step times than controls. Hesitant steps tended to be clustered within certain regions of the walking paths. IMUs enabled identification of key gait characteristics in this clinical population (step time, length and step hesitancy) and environmental conditions (route complexity) modifying their expression.

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