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The Patient-Centered Outcomes Research Institute (PCORI), created to fund research guided by patients, caregivers, and the broader health care community, offers a new research venue. Many (41 of 50) first funded projects involved qualitative research methods. This study was completed to examine the current state of the science of qualitative methodologies used in PCORI-funded research. Principal investigators participated in phenomenological interviews to learn (a) how do researchers using qualitative methods experience seeking funding for, implementing and disseminating their work; and (b) how may qualitative methods advance the quality and relevance of evidence for patients? Results showed the experience of doing qualitative research in the current research climate as "Being a bona fide qualitative researcher: Staying true to research aims while negotiating challenges," with overlapping patterns: (a) researching the elemental, (b) expecting surprise, and (c) pushing boundaries. The nature of qualitative work today was explicitly described and is rendered in this article.
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Investigación sobre Servicios de Salud/organización & administración , Evaluación del Resultado de la Atención al Paciente , Atención Dirigida al Paciente/organización & administración , Humanos , Investigación CualitativaRESUMEN
Deleterious consequences of heterozygous OPA1 mutations responsible for autosomal dominant optic atrophy remain a matter of debate. Primary skin fibroblasts derived from patients have shown diverse mitochondrial alterations that were however difficult to resolve in a unifying scheme. To address the potential use of these cells as disease model, we undertook parallel and quantitative analyses of the diverse reported alterations in four fibroblast lines harboring different OPA1 mutations, nonsense or missense, in the guanosine triphosphatase or the C-terminal coiled-coil domains. We tackled several factors potentially underlying discordant reports and showed that fibroblasts with heterozygous OPA1 mutations present with several mitochondrial alterations. These included defective mitochondrial fusion during pharmacological challenge with the protonophore carbonyl cyanide m-chlorophenyl hydrazone, significant mitochondrial elongation with decreased OPA1 and DRP1 proteins, and abnormal mitochondrial fragmentation during glycolysis shortage or exogenous oxidative stress. Respiratory complex IV activity and subunits steady-state were decreased without alteration of the mitochondrial deoxyribonucleic acid size, amount or transcription. Physical link between OPA1 protein and oxidative phosphorylation was shown by reciprocal immunoprecipitation. Altered cristae structure coexisted with normal response to pro-apoptotic stimuli and expression of Bax or Bcl2 proteins. Skin fibroblasts with heterozygous OPA1 mutations thus share significant mitochondrial remodeling, and may therefore be useful for analyzing disease pathophysiology. Identifying whether the observed alterations are also present in ganglion retinal cells, and which of them underlies their degeneration process remains however an essential goal for therapeutic strategy.
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Respiración de la Célula/genética , GTP Fosfohidrolasas/genética , Fusión de Membrana/genética , Proteínas Asociadas a Microtúbulos/genética , Mitocondrias/genética , Proteínas Mitocondriales/genética , Fenómenos Fisiológicos de la Piel/genética , Apoptosis/efectos de los fármacos , Apoptosis/genética , Carbonil Cianuro m-Clorofenil Hidrazona/farmacología , Respiración de la Célula/efectos de los fármacos , Respiración de la Célula/fisiología , Células Cultivadas , ADN Mitocondrial/genética , Dinaminas , Complejo IV de Transporte de Electrones/genética , Complejo IV de Transporte de Electrones/metabolismo , Fibroblastos/efectos de los fármacos , Fibroblastos/metabolismo , GTP Fosfohidrolasas/metabolismo , Glucólisis/efectos de los fármacos , Glucólisis/genética , Heterocigoto , Humanos , Fusión de Membrana/efectos de los fármacos , Fusión de Membrana/fisiología , Proteínas Asociadas a Microtúbulos/metabolismo , Mitocondrias/efectos de los fármacos , Mitocondrias/metabolismo , Proteínas Mitocondriales/metabolismo , Atrofia Óptica Autosómica Dominante/genética , Atrofia Óptica Autosómica Dominante/metabolismo , Fosforilación Oxidativa/efectos de los fármacos , Estrés Oxidativo/efectos de los fármacos , Estrés Oxidativo/genética , Estructura Terciaria de Proteína/efectos de los fármacos , Estructura Terciaria de Proteína/genética , Piel/citología , Piel/efectos de los fármacos , Piel/metabolismo , Fenómenos Fisiológicos de la Piel/efectos de los fármacos , Proteína X Asociada a bcl-2/genética , Proteína X Asociada a bcl-2/metabolismo , Proteína Letal Asociada a bcl/genética , Proteína Letal Asociada a bcl/metabolismoRESUMEN
To describe the clinical and electrophysiological features evoking CMT4C, an autosomal recessive (AR) form of Charcot-Marie-Tooth disease (CMT) due to mutations in the SH3TC2 gene, we screened the coding sequence of SH3TC2 gene in 102 unrelated patients with a demyelinating or intermediate CMT and a family history compatible with an AR transmission. We identified among this cohort 16 patients carrying two mutations in the SH3TC2 gene, but medical records finally analyzed 14 patients. We report clinical, electrophysiological, and molecular data of 14 patients (9 men, 5 women) with CMT4C. Mean age at examination was 43.6 years (median = 42.5). Among the 14 studied cases 6 had scoliosis as the presenting sign. Cranial nerve involvement affecting either the VIIIth, VIIth, XIIth or a combination of the IXth and Xth nerves was noted in 10 patients. Remarkably, 50% of the patients had proximal limb involvement at the time of examination. The hallmark of the electrophysiological study was the presence of probable conduction block and temporal dispersion. Thus the clinical and paraclinical spectrum of CMT4C can guide the clinician to perform analysis of the SH3TC2 gene.
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Enfermedad de Charcot-Marie-Tooth/genética , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Proteínas/genética , Adulto , Electrofisiología , Femenino , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Persona de Mediana Edad , Mutación , Reacción en Cadena de la Polimerasa , Adulto JovenRESUMEN
INTRODUCTION: The patient-centered medical home model stresses the importance of team-based care as a foundation to improving care, costs, and patient experience. Medical assistants (MAs) are being used as key care team members even as traditional educational programs may not equip them for this new way of working. METHODS: This paper describes an on-the-job, predominantly virtual training program aimed at building care teams by redefining the role of the MA and fostering team-based functioning. Participating MAs, clinic managers, and clinicians in 11 primary care clinics completed 18-item pre- and post-training surveys to assess confidence in MA skills and performance. In-depth 1-hour qualitative interviews were conducted with selected participating MAs, managers, and clinicians to assess MA self-efficacy and to understand their use of new skills. RESULTS: MAs, clinicians, and managers agreed that MAs improved skills in planned care and population management, self-management support and health coaching, and interdisciplinary communication and collaboration. MAs reported a positive training experience, that they shared their knowledge with other MAs in their clinic, and that their job satisfaction increased. DISCUSSION: A predominantly virtual 12-week program built the skills and confidence of MAs in proactive population management, health coaching, and collaboration and communication. This program shows the promise of a virtual approach to training that identifies, trains, and recognizes high-potential MAs.
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Técnicos Medios en Salud , Grupo de Atención al Paciente , Personal de Salud , Humanos , Comunicación Interdisciplinaria , Atención Dirigida al PacienteRESUMEN
BACKGROUND: The number of RN-to-baccalaureate nursing (BSN) programs is increasing; however, nurses continue to voluntarily withdraw at higher rates than expected. METHOD: A Heideggerian hermeneutic approach was used to interpret the meaning of the experience of RNs, who voluntarily withdraw from their baccalaureate nursing programs. The research aims were to generate a comprehensive understanding of (a) the experiences of RN-to-BSN noncompleters, (b) the meaning noncompleters ascribe to the experience of dropping out, and (c) the interplay between factors that influence dropout decisions. RESULTS: Two overarching patterns of understanding emerged: Withdrawing as Revisiting Failure, and Withdrawing as Impasse: On One Side of the Divide. The factors that influence whether an RN finishes a baccalaureate nursing program are many, but the effect on dignity and well-being are immeasurable. CONCLUSION: Voluntary withdrawal from an RN-to-BSN program leaves nurses professionally place-bound, affecting not only the individual nurse but also the profession. [J Nurs Educ. 2017;56(5):260-265.].