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1.
Cell ; 186(24): 5220-5236.e16, 2023 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-37944511

RESUMO

The Sc2.0 project is building a eukaryotic synthetic genome from scratch. A major milestone has been achieved with all individual Sc2.0 chromosomes assembled. Here, we describe the consolidation of multiple synthetic chromosomes using advanced endoreduplication intercrossing with tRNA expression cassettes to generate a strain with 6.5 synthetic chromosomes. The 3D chromosome organization and transcript isoform profiles were evaluated using Hi-C and long-read direct RNA sequencing. We developed CRISPR Directed Biallelic URA3-assisted Genome Scan, or "CRISPR D-BUGS," to map phenotypic variants caused by specific designer modifications, known as "bugs." We first fine-mapped a bug in synthetic chromosome II (synII) and then discovered a combinatorial interaction associated with synIII and synX, revealing an unexpected genetic interaction that links transcriptional regulation, inositol metabolism, and tRNASerCGA abundance. Finally, to expedite consolidation, we employed chromosome substitution to incorporate the largest chromosome (synIV), thereby consolidating >50% of the Sc2.0 genome in one strain.


Assuntos
Cromossomos Artificiais de Levedura , Genoma Fúngico , Saccharomyces cerevisiae , Sequência de Bases , Cromossomos/genética , Saccharomyces cerevisiae/genética , Biologia Sintética
2.
JMIR Form Res ; 2(1): e7, 2018 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-30684409

RESUMO

BACKGROUND: Growing research has been conducted into the deployment and evaluation of mobile technology interventions for weight management in adolescents. However, no work has yet been conducted toward the development of these technologies for adolescents with complex health needs receiving specialized tertiary-level health care. OBJECTIVE: The aim of this study was to conduct a user-centered needs assessment of adolescents interested in weight management with complex health needs requiring specialized health care services, their parents, and health care providers (HCPs) to inform the design and development of a mobile app for weight and health management. METHODS: A qualitative study design was employed. Participants were recruited from two tertiary health care centers. Separate audiotaped focus group interviews were conducted with adolescents aged 12 to 18 years, parents, and HCPs. Interviews were transcribed, and field notes were collected by research staff. Iterative simple content analysis was performed independently by 4 research team members using computer software NVivo (QSR International) 10.0. RESULTS: A total of 19 adolescents, 16 parents, and 21 HCPs were interviewed. Qualitative analysis revealed seven major themes related to app functionality: healthy eating, social support, self-monitoring, communicating with HCPs, supporting mental health, gamification and incentives, and user interface (UI) design. Adolescents provided several ideas related to each feature, whereas parents' views focused on assistance with meal planning and greater access to HCPs. HCPs viewed the app as a novel and more acceptable platform to connect remotely with adolescents than conventional methods. They also strongly endorsed the value of social support capabilities and the ability to connect with an HCP. CONCLUSIONS: This is the first study to conduct a qualitative needs assessment in adolescents receiving specialized health care services toward the design of a mobile app for weight and health management. Our results indicate that core components of the app should include tailored meal recommendations and assistance with meal planning, social networking for peer support, customized and convenient tracking, remote access to HCPs, features to support mental health, and an attractive and engaging UI. These findings will be used to develop and evaluate a mobile app targeting adolescents with complex health needs.

3.
JMIR Mhealth Uhealth ; 5(10): e162, 2017 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-29061558

RESUMO

BACKGROUND: Recently, the use of smartphones to deliver health-related content has experienced rapid growth, with more than 165,000 mobile health (mHealth) apps currently available in the digital marketplace. With 3 out of 4 Canadians currently owning a smartphone, mHealth apps offer opportunities to deliver accessible health-related knowledge and support. Many individuals experience pain after surgery, which can negatively impact their health-related quality of life, including sleep, emotional, and social functioning. Smartphone apps that provide remote real-time monitoring and symptom management have the potential to improve self-management skills in patients experiencing postoperative pain. Increased confidence and practice of self-management skills could contribute to decreased postoperative pain and reduce risk of developing persistent pain. Published reviews of general pain self-management apps demonstrate a lack of evidence-based content, theoretical grounding, and health care professional involvement. However, no review to date has focused on the app marketplace specific for individuals with postoperative pain. OBJECTIVE: The aim of this study was to characterize and critically appraise the content and functionality of commercially available postoperative pain self-management apps. METHODS: An electronic search and extraction was conducted between December 2016 and March 2017 of the official Canadian app stores for the three major smartphone operating systems (iPhone operating system [iOS], Android, and Windows). Stores were searched separately using predetermined search terms. Two authors screened apps based on information provided in the public app description. Metadata from all included apps were abstracted into a standard spreadsheet. Two authors verified the data with reference to the apps and downloaded apps themselves. The content and functionality of each app as it pertained to postoperative pain self-management was rated. RESULTS: A total of 10 apps met the inclusion criteria. All included apps were designed exclusively for the Android platform. Education was the most common self-management feature offered (8/10, 80%), with none of the apps offering features related to goal setting or social support. Overall, no single app was comprehensive in terms of pain self-management content. Five (50%) apps reported the involvement of a health care provider in their development. However, not a single app involved end users in their development, and none of the apps underwent scientific evaluation. Additionally, none of the apps were designed for use in pediatric patients. CONCLUSIONS: Currently available postoperative pain apps for patients lack evidence-based content, goal setting, and social support functions. There is a need to develop and test comprehensive theory-based apps to support patients with pain self-management care following surgery.

4.
JMIR Mhealth Uhealth ; 4(3): e87, 2016 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-27460502

RESUMO

BACKGROUND: Obesity remains a major public health concern. Mobile apps for weight loss/management are found to be effective for improving health outcomes in adults and adolescents, and are pursued as a cost-effective and scalable intervention for combating overweight and obesity. In recent years, the commercial market for 'weight loss apps' has expanded at rapid pace, yet little is known regarding the evidence-based quality of these tools for weight control. OBJECTIVE: To characterize the inclusion of evidence-based strategies, health care expert involvement, and scientific evaluation of commercial mobile apps for weight loss/management. METHODS: An electronic search was conducted between July 2014 and July 2015 of the official app stores for four major mobile operating systems. Three raters independently identified apps with a stated goal of weight loss/management, as well as weight loss/management apps targeted to pediatric users. All discrepancies regarding selection were resolved through discussion with a fourth rater. Metadata from all included apps were abstracted into a standard assessment criteria form and the evidence-based strategies, health care expert involvement, and scientific evaluation of included apps was assessed. Evidence-based strategies included: self-monitoring, goal-setting, physical activity support, healthy eating support, weight and/or health assessment, personalized feedback, motivational strategies, and social support. RESULTS: A total of 393 apps were included in this review. Self-monitoring was most common (139/393, 35.3%), followed by physical activity support (108/393, 27.5%), weight assessment (100/393, 25.4%), healthy eating support (91/393, 23.2%), goal-setting (84/393, 21.4%), motivational strategies (28/393, 7.1%), social support (21/393, 5.3%), and personalized feedback (7/393, 1.8%). Of apps, 0.8% (3/393) underwent scientific evaluation and 0.3% (1/393) reported health care expert involvement. No apps were comprehensive in the assessment criteria, with the majority of apps meeting less than two criteria. CONCLUSIONS: Commercial mobile apps for weight loss/management lack important evidence-based features, do not involve health care experts in their development process, and have not undergone rigorous scientific testing. This calls into question the validity of apps' claims regarding their effectiveness and safety, at a time when the availability and growth in adoption of these tools is rapidly increasing. Collaborative efforts between developers, researchers, clinicians, and patients are needed to develop and test high-quality, evidence-based mobile apps for weight loss/management before they are widely disseminated in commercial markets.

5.
Clin J Pain ; 31(6): 557-63, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25370138

RESUMO

OBJECTIVES: There are a growing number of pain self-management applications (apps) available for users to download on personal smartphones. The purpose of this study was to critically appraise the content and self-management functionality of currently available pain apps. METHODS: An electronic search was conducted between May and June 2014 of the official stores for the 4 major operating systems. Two authors independently identified patient-focused apps with a stated goal of pain management. Discrepancies regarding selection were resolved through discussion with a third party. Metadata from all included apps were abstracted into a standard form. The content and functionality of each app as it pertained to pain self-management was rated. RESULTS: A total of 279 apps met the inclusion criteria. Pain self-care skill support was the most common self-management function (77.4%). Apps also purported providing patients with the ability to engage in pain education (45.9%), self-monitoring (19%), social support (3.6%), and goal-setting (0.72%). No apps were comprehensive in terms of pain self-management, with the majority of apps including only a single self-management function (58.5%). In addition, only 8.2% of apps included a health care professional in their development, not a single app provided a theoretical rationale, and only 1 app underwent scientific evaluation. DISCUSSION: Currently available pain self-management apps for patients are simplistic, lack the involvement of health care professionals in their development, and have not been rigorously tested for effectiveness on pain-related health outcomes. There is a need to develop and test theoretically and evidence-based apps to better support patients with accessible pain care self-management.


Assuntos
Aplicativos Móveis , Manejo da Dor/instrumentação , Manejo da Dor/métodos , Smartphone , Humanos , Autocuidado/instrumentação , Autocuidado/métodos
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