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1.
J Genet Couns ; 30(4): 924-937, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33817891

RESUMO

Telegenetics involves the use of technology (generally video conferencing) to remotely provide genetic services. A telegenetics platform is critical for those with limitations or vulnerabilities compromising their ability to attend clinic in-person, including individuals in rural areas. As the demand for remote genetics services increases, and amidst the COVID-19 pandemic with social distancing practices in place, we conducted a literature review to examine the benefits and limitations of telegenetics and explore the views of patients and health professionals utilizing telegenetics. Searches of the PubMed database identified 21 relevant primary studies for inclusion. The majority of studies found acceptability of telegenetics to be high among patients and health professionals and that telegenetics provided access to genetics services for underserved communities. The main benefits cited include cost-effectiveness and reduction in travel time for genetics services providing outreach clinics and patients who would otherwise travel long distances to access genetics. Patients appreciated the convenience of telegenetics including the reduced wait times, although a minority of patients reported their psychosocial needs were not adequately met. Eight studies compared outcomes between telegenetics and in-person services; findings suggested when comparing telegenetics patients to their in-person counterparts, telegenetics patients had a similar level of knowledge and understanding of genetics and similar psychological outcomes. Some studies reported challenges related to establishing rapport and reading and responding to verbal cues via telegenetics, while technical issues were not generally found to be a major limitation. Some service adaptations, for example, counseling strategies, may be required to successfully deliver telegenetics. Further research may be necessary to gather and examine data on how telegenetics outcomes compare to that of in-person genetic counseling and adapt services accordingly.


Assuntos
Aconselhamento Genético , Telemedicina , Comunicação por Videoconferência , COVID-19/epidemiologia , Humanos , Pandemias , Distanciamento Físico
2.
G3 (Bethesda) ; 8(12): 3881-3890, 2018 12 10.
Artigo em Inglês | MEDLINE | ID: mdl-30301737

RESUMO

Next generation biofuels including longer-chain alcohols such as butanol are attractive as renewable, high-energy fuels. A barrier to microbial production of butanols is the increased toxicity compared to ethanol; however, the cellular targets and microbial defense mechanisms remain poorly understood, especially under anaerobic conditions used frequently in industry. Here we took a comparative approach to understand the response of Saccharomyces cerevisiae to 1-butanol, isobutanol, or ethanol, across three genetic backgrounds of varying tolerance in aerobic and anaerobic conditions. We find that strains have different growth properties and alcohol tolerances with and without oxygen availability, as well as unique and common responses to each of the three alcohols. Our results provide evidence for strain-by-alcohol-by-oxygen interactions that moderate how cells respond to alcohol stress.


Assuntos
Álcoois/farmacologia , Regulação Fúngica da Expressão Gênica/efeitos dos fármacos , Interação Gene-Ambiente , Saccharomyces cerevisiae/metabolismo , Transcriptoma/efeitos dos fármacos , Aerobiose/fisiologia , Saccharomyces cerevisiae/genética
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