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1.
Nucleic Acids Res ; 52(10): 5732-5755, 2024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38597682

RESUMO

Expansion of a G4C2 repeat in the C9orf72 gene is associated with familial Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). To investigate the underlying mechanisms of repeat instability, which occurs both somatically and intergenerationally, we created a novel mouse model of familial ALS/FTD that harbors 96 copies of G4C2 repeats at a humanized C9orf72 locus. In mouse embryonic stem cells, we observed two modes of repeat expansion. First, we noted minor increases in repeat length per expansion event, which was dependent on a mismatch repair pathway protein Msh2. Second, we found major increases in repeat length per event when a DNA double- or single-strand break (DSB/SSB) was artificially introduced proximal to the repeats, and which was dependent on the homology-directed repair (HDR) pathway. In mice, the first mode primarily drove somatic repeat expansion. Major changes in repeat length, including expansion, were observed when SSB was introduced in one-cell embryos, or intergenerationally without DSB/SSB introduction if G4C2 repeats exceeded 400 copies, although spontaneous HDR-mediated expansion has yet to be identified. These findings provide a novel strategy to model repeat expansion in a non-human genome and offer insights into the mechanism behind C9orf72 G4C2 repeat instability.


Assuntos
Proteína C9orf72 , Expansão das Repetições de DNA , Instabilidade Genômica , Animais , Humanos , Camundongos , Esclerose Lateral Amiotrófica/genética , Proteína C9orf72/genética , Modelos Animais de Doenças , Quebras de DNA de Cadeia Dupla , Expansão das Repetições de DNA/genética , Demência Frontotemporal/genética , Técnicas de Introdução de Genes , Instabilidade Genômica/genética , Proteína 2 Homóloga a MutS/genética
3.
Educ Health (Abingdon) ; 35(3): 77-78, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-37313885
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5.
Educ Health (Abingdon) ; 35(1): 1-2, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36367021
6.
Educ Health (Abingdon) ; 35(2): 39-40, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36647930
7.
Educ Health (Abingdon) ; 34(3): 93-94, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35488653
9.
Educ Health (Abingdon) ; 33(3): 85, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33727496
10.
Educ Health (Abingdon) ; 33(1): 1-2, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32859872
11.
Educ Health (Abingdon) ; 32(2): 51-52, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31744996
12.
Educ Health (Abingdon) ; 32(1): 1-2, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31512585
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14.
Educ Health (Abingdon) ; 27(2): 177-82, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25420981

RESUMO

BACKGROUND: A six-week rural interprofessional health professions summer preceptorship provided an interprofessional training experience (IPE) for upper level baccalaureate and post-baccalaureate/graduate level health professions students in Dixon, Illinois, USA. There are three distinct yet complementary components of this forty hours per week summer preceptorship: Numerous interprofessional clinical shadowing experiences, a community service-learning project carried out as a team and weekly classroom sessions. This study assesses knowledge and attitude changes about IPE among students who participated in this Rural Interprofessional Health Professions Summer Preceptorship between 2006 and 2011. METHODS: Fifty-two students over the six program years were asked to complete an identical pre-/post-questionnaire. The questionnaire included scales on seven topics, two of which addressed knowledge and attitudes about IPE: (i) Understanding of their own and other professions' work roles and (ii) Perceived ability to work effectively in interprofessional teams and make use of skills of other professions. Fifty of the fifty two (96.1%) students completed both the pre- and post-tests. RESULTS: Positive changes from the pre- to the post-tests were observed for the scales that related to interaction with other professions and assessment of their professional skills and students' understanding of the roles of other professions. Pre- versus post-preceptorship students also reported greater experience working as a member of an interprofessional team and an increase in their support for interprofessional education within a rural setting being required for all health professions students. CONCLUSION: A rural interprofessional health professions summer preceptorship that includes preceptor shadowing, a community service-learning project and classroom work proved to be an effective approach to developing interprofessional health care teams, increasing the knowledge and skills of participating students and creating positive attitudes toward interactions with other professions.


Assuntos
Relações Interprofissionais , Preceptoria , Competência Profissional , Estudantes de Ciências da Saúde/psicologia , Atitude , Humanos , Illinois , Serviços de Saúde Rural , Inquéritos e Questionários
15.
J Psychosoc Oncol ; 31(3): 319-33, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23656258

RESUMO

It is important to understand the psychosocial needs of rural survivors of cancer to better serve this group. Survivors and partners filled out a pre-tested survey addressing general and mental health, quality of life and demographics. Twenty-nine survivors and 15 partners responded. Over 50% of both groups were at-risk for depression; 34% of the cancer survivors had some type of psychosocial problem requiring assistance. Areas to be targeted for psychosocial interventions for rural survivors include: management of side effects/complications of treatment; adjustment to changes in quality of life; emotional support; cancer impact on social relationships; uncertainty reduction.


Assuntos
Avaliação das Necessidades , Neoplasias/psicologia , População Rural , Cônjuges/psicologia , Sobreviventes/psicologia , Adaptação Psicológica , Idoso , Depressão/epidemiologia , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/terapia , Qualidade de Vida/psicologia , Medição de Risco
16.
Rural Remote Health ; 12: 2199, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23145784

RESUMO

INTRODUCTION: Health disparities remain a challenge in rural populations, with mental health care especially challenging as the proportion of older adults continues to increase worldwide. This study examined the mental health service needs of, and use by, independently living rural older adults, with a focus on depression. METHODS: Older adults (≥ 50 years) were asked to complete a survey. RESULTS: There were 150 respondents: 29% were between the ages of 50 and 64 years and 71% were 65 years and older. On a composite variable, 23.3% were at-risk for depression. One-half to two-thirds reported awareness of local mental health services, but nearly three-quarters never used these. Barriers to effective treatment of depression included stress, healthcare costs, and denial/fear of depression. There was an 'avoidance' factor in depression diagnosis and management. CONCLUSION: Older adults in rural communities experiencing depression pose a problem. Strategies are needed to overcome multiple barriers to effective diagnosis and treatment. There is a need to better understand the role of stress in older adults' lives. It is especially important for primary care providers and the local community to organize resources to allow for more time to be spent with older adults with mental health problems.


Assuntos
Serviços Comunitários de Saúde Mental , Transtorno Depressivo/terapia , Conhecimentos, Atitudes e Prática em Saúde , Necessidades e Demandas de Serviços de Saúde , Indicadores Básicos de Saúde , Disparidades em Assistência à Saúde/normas , Serviços de Saúde Rural/estatística & dados numéricos , Idoso , Feminino , Pesquisas sobre Atenção à Saúde , Disparidades em Assistência à Saúde/estatística & dados numéricos , Humanos , Illinois , Masculino , Área Carente de Assistência Médica , Pessoa de Meia-Idade , Fatores Socioeconômicos , Inquéritos e Questionários , Viagem/psicologia , Viagem/estatística & dados numéricos , Recursos Humanos
17.
Rural Remote Health ; 12: 2176, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23088609

RESUMO

INTRODUCTION: A variety of studies have indicated that rural communities have fewer mental health services and professionals than their urban counterparts. This study will examine the shortages of mental health professionals in rural communities as well as the impact of inadequate mental health services access on rural hospitals. METHODS: A sample frame of 1162 rural hospitals was compiled, and a two-page survey was mailed to each hospital Chief Executive Officer (CEO). RESULTS: Of the 1162 surveys mailed, 228 were returned. The majority of CEOs agreed that there was a shortage of mental health professionals, that referral centers were too distant, and that there were many barriers to care including infrastructure, poverty, and substance abuse. Solutions offered by CEOs included telemedicine and residency training programs. CONCLUSIONS: This study shows that many rural areas have great need for more mental health professional recruitment and retention.


Assuntos
Diretores de Hospitais/psicologia , Acessibilidade aos Serviços de Saúde/normas , Hospitais Rurais , Serviços de Saúde Mental , Avaliação das Necessidades , Recursos Humanos em Hospital/provisão & distribuição , Agendamento de Consultas , Atitude do Pessoal de Saúde , Diretores de Hospitais/estatística & dados numéricos , Estudos Transversais , Seguimentos , Pesquisas sobre Atenção à Saúde , Acessibilidade aos Serviços de Saúde/economia , Humanos , Cobertura do Seguro/estatística & dados numéricos , Distribuição Normal , Seleção de Pessoal , Área de Atuação Profissional , Encaminhamento e Consulta/estatística & dados numéricos , População Rural/estatística & dados numéricos , Inquéritos e Questionários , Viagem/estatística & dados numéricos , Estados Unidos , Recursos Humanos
18.
Fam Community Health ; 34(2): 141-53, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21378511

RESUMO

This article discusses knowledge and encouragement of healthy lifestyles and health professions career awareness in rural youth. The Northern Illinois 4-H Health Jam, an innovative program targeting rural elementary school children to offer information and support related to exercise, wellness, nutrition, and health careers is described. From 2006 to 2008, a total of 262 youth have participated in the Health Jam, which is based on an experiential learning approach. Preevent versus postevent comparisons show statistically significant improvements in rural students' knowledge and attitudes about health topics and careers.


Assuntos
Promoção da Saúde/organização & administração , Estilo de Vida , Comportamento de Redução do Risco , População Rural , Criança , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Illinois
19.
Educ Health (Abingdon) ; 29(3): 169, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28406098
20.
Educ Health (Abingdon) ; 29(3): 164-166, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28406096
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