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1.
BMJ Open ; 9(2): e022594, 2019 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-30782868

RESUMO

OBJECTIVE: Teleophthalmology for diabetic eye screening is an evidence-based intervention substantially underused in US multipayer primary care clinics, even when equipment and trained personnel are readily available. We sought to identify patient and primary care provider (PCP) barriers, facilitators, as well as strategies to increase teleophthalmology use. DESIGN: We conducted standardised open-ended, individual interviews and analysed the transcripts using both inductive and directed content analysis to identify barriers and facilitators to teleophthalmology use. The Chronic Care Model was used as a framework for the development of the interview guide and for categorising implementation strategies to increase teleophthalmology use. SETTING: A rural, US multipayer primary care clinic with an established teleophthalmology programme for diabetic eye screening. PARTICIPANTS: We conducted interviews with 29 participants (20 patients with diabetes and 9 PCPs). RESULTS: Major patient barriers to teleophthalmology use included being unfamiliar with teleophthalmology, misconceptions about diabetic eye screening and logistical challenges. Major patient facilitators included a recommendation from the patient's PCP and factors related to convenience. Major PCP barriers to referring patients for teleophthalmology included difficulty identifying when patients are due for diabetic eye screening and being unfamiliar with teleophthalmology. Major PCP facilitators included the ease of the referral process and the communication of screening results. Based on our results, we developed a model that maps where these key patient and PCP barriers occur in the teleophthalmology referral process. Patients and PCPs also identified implementation strategies to directly address barriers and facilitators to teleophthalmology use. CONCLUSIONS: Patients and PCPs have limited familiarity with teleophthalmology for diabetic eye screening. PCPs were expected to initiate teleophthalmology referrals, but reported significant difficulty identifying when patients are due for diabetic eye screening. System-based implementation strategies primarily targeting PCP barriers in conjunction with improved patient and provider education may increase teleophthalmology use in rural, US multipayer primary care clinics.


Assuntos
Retinopatia Diabética/diagnóstico , Acessibilidade aos Serviços de Saúde/organização & administração , Programas de Rastreamento/organização & administração , Atenção Primária à Saúde/organização & administração , Serviços de Saúde Rural/organização & administração , Telemedicina/organização & administração , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Entrevistas como Assunto , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Atenção Primária à Saúde/métodos , Estados Unidos
2.
PLoS One ; 13(11): e0206742, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30388172

RESUMO

OBJECTIVE: Diabetic retinopathy remains the leading cause of blindness among working-age U.S. adults largely due to low screening rates. Rural populations face particularly greater challenges to screening because they are older, poorer, less insured, and less likely to receive guideline-concordant care than those in urban areas. Current patient education efforts may not fully address multiple barriers to screening faced by rural patients. We sought to characterize contextual factors affecting rural patient adherence with diabetic eye screening guidelines. RESEARCH DESIGN AND METHODS: We conducted semi-structured interviews with 29 participants (20 adult patients with type 2 diabetes and 9 primary care providers) in a rural, multi-payer health system. Both inductive and directed content analysis were performed. RESULTS: Factors influencing rural patient adherence with diabetic eye screening were categorized as environmental, social, and individual using the Ecological Model of Health. Major themes included limited access to and infrequent use of healthcare, long travel distances to obtain care, poverty and financial tradeoffs, trusting relationships with healthcare providers, family members' struggles with diabetes, anxiety about diabetes complications, and the burden of diabetes management. CONCLUSIONS: Significant barriers exist for rural patients that affect their ability to adhere with yearly diabetic eye screening. Many studies emphasize patient education to increase adherence, but current patient education strategies fail to address major environmental, social, and individual barriers. Addressing these factors, leveraging patient trust in their healthcare providers, and strategies targeted specifically to environmental barriers such as long travel distances (e.g. teleophthalmology) may fill crucial gaps in diabetic eye screening in rural communities.


Assuntos
Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/psicologia , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/psicologia , Cooperação do Paciente/psicologia , Saúde da População Rural , Idoso , Idoso de 80 Anos ou mais , Cegueira/etiologia , Cegueira/prevenção & controle , Cegueira/psicologia , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Pessoal de Saúde/psicologia , Humanos , Entrevistas como Assunto , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Atenção Primária à Saúde , Pesquisa Qualitativa , População Rural , Fatores Socioeconômicos , Wisconsin
3.
Curr Diab Rep ; 17(10): 94, 2017 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-28856510

RESUMO

PURPOSE OF REVIEW: Diabetic retinopathy remains the leading cause of blindness among working-age US adults even though timely screening and treatment prevent 90% of blindness. We summarize current knowledge and perspectives to better understand why diabetic eye screening rates remain low and future directions towards preventing blindness from diabetes. RECENT FINDINGS: Significant advancements in the past 10 years include primary care and patient-oriented interventions as well as the use of teleophthalmology. In England, diabetic eye disease is no longer the leading cause of certifiable blindness following the implementation of a national teleophthalmology program for diabetic retinopathy. Multiple workflow and systems-level barriers affect providers. Patient barriers include a limited understanding of screening and lack of access to care. Interventions have been developed, but new barriers exist towards sustaining their impact. More research is needed to identify and implement the best practices to increase diabetic eye screening rates long-term.


Assuntos
Retinopatia Diabética/diagnóstico , Conhecimentos, Atitudes e Prática em Saúde , Pessoal de Saúde , Programas de Rastreamento , Humanos , Guias de Prática Clínica como Assunto
4.
PLoS One ; 11(6): e0157577, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27310661

RESUMO

We have previously described a mouse model of human posterior polymorphous corneal dystrophy (PPCD) and localized the causative mutation to a 6.2 Mbp region of chromosome 2, termed Ppcd1. We now show that the gene rearrangement linked to mouse Ppcd1 is a 3.9 Mbp chromosomal inversion flanked by 81 Kbp and 542 bp deletions. This recombination event leads to deletion of Csrp2bp Exons 8 through 11, Dzank1 Exons 20 and 21, and the pseudogene Znf133. In addition, we identified translocation of novel downstream sequences to positions adjacent to Csrp2bp Exon 7 and Dzank1 Exon 20. Twelve novel fusion transcripts involving Csrp2bp or Dzank1 linked to downstream sequences have been identified. Eight are expressed at detectable levels in PPCD1 but not wildtype eyes. Upregulation of two Csrp2bp fusion transcripts, as well as upregulation of the adjacent gene, Ovol2, was observed. Absence of the PPCD1 phenotype in animals haploinsufficient for Csrp2bp or both Csrp2bp and Dzank1 rules out haploinsufficiency of these genes as a cause of mouse PPCD1. Complementation experiments confirm that PPCD1 embryonic lethality is due to disruption of Csrp2bp expression. The ocular expression pattern of Csrp2bp is consistent with a role for this protein in corneal development and pathogenesis of PPCD1.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas de Transporte/genética , Cromossomos de Mamíferos/química , Distrofias Hereditárias da Córnea/genética , Rearranjo Gênico , Histona Acetiltransferases/genética , RNA Mensageiro/genética , Fatores de Transcrição/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Animais , Sequência de Bases , Proteínas de Transporte/metabolismo , Mapeamento Cromossômico , Córnea/metabolismo , Córnea/patologia , Distrofias Hereditárias da Córnea/metabolismo , Distrofias Hereditárias da Córnea/patologia , Modelos Animais de Doenças , Éxons , Estudos de Associação Genética , Teste de Complementação Genética , Histona Acetiltransferases/metabolismo , Humanos , Íntrons , Camundongos , RNA Mensageiro/metabolismo , Deleção de Sequência , Fatores de Transcrição/metabolismo
5.
Blood ; 103(8): 3233-40, 2004 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-15070709

RESUMO

Defects in red blood cell (RBC) membrane skeleton components cause hereditary spherocytosis (HS). Clinically, HS varies significantly even among individuals with identical gene defects, illustrating the profound effects of genetic background on disease severity. We exploited a new spontaneous mouse model, wan, which arose on the inbred C3H/HeJ strain, to identify quantitative trait loci (QTL) that modify the HS phenotype. Homozygous wan mice have severe HS due to a complete deficiency of erythroid band 3. A QTL analysis of RBC count, hemoglobin, hematocrit, mean corpuscular volume (MCV), and mean corpuscular hemoglobin content (MCHC) was performed in wan/wan mice from an F2 intercross between C3H/HeJ(+/wan) and CAST/Ei(+/+) F1 hybrids. Hematologic and survival data from C3H, CAST/Ei F2 wan homozygotes support the hypothesis that genetic modifiers significantly influence the band-3 null HS phenotype. Significant QTL were identified for the MCV trait only, suggesting that RBC membrane characteristics are a target for modifier gene action. The most significant quantitative trait locus, Hsm1 (hereditary spherocytosis modifier 1), localizes to mouse Chromosome 12 and is dominant. The peak LOD score was obtained with a marker for Spnb1 encoding erythroid beta-spectrin, an obvious candidate gene.


Assuntos
Proteína 1 de Troca de Ânion do Eritrócito/deficiência , Proteína 1 de Troca de Ânion do Eritrócito/genética , Locos de Características Quantitativas , Esferocitose Hereditária/sangue , Esferocitose Hereditária/genética , Animais , Sequência de Bases , Proteínas Sanguíneas/deficiência , Códon de Terminação , Cruzamentos Genéticos , Proteínas do Citoesqueleto , DNA/genética , Modelos Animais de Doenças , Índices de Eritrócitos/genética , Humanos , Escore Lod , Proteínas de Membrana , Camundongos , Camundongos Endogâmicos C3H , Camundongos Mutantes , Fenótipo , Espectrina/genética
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