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1.
J Neurol Sci ; 388: 203-207, 2018 05 15.
Artículo en Inglés | MEDLINE | ID: mdl-29627023

RESUMEN

INTRODUCTION: LRRK2 G2019S mutation carriers with Parkinson's disease (PD) have been generally indistinguishable from those with idiopathic PD, with the exception of variable differences in some motor and non-motor domains, including cognition, gait, and balance. LRRK2 G2019S is amongst the most common genetic etiologies for PD, particularly in Ashkenazi Jewish (AJ) populations. METHODS: This cross-sectional data collection study sought to clarify the phenotype of LRRK2 G2019S mutation carriers with PD. Primary endpoints were the Movement Disorder Society Unified Parkinson Disease Rating Scale (MDS-UPDRS) and Montreal Cognitive Assessment (MoCA). Other motor and non-motor data were also assessed. The Mann-Whitney U Test was utilized to compare LRRK2 G2019S carriers with PD (LRRK2+) with non-carrier PD controls who were matched for age, gender, education, and PD duration. Survival analyses and log rank tests were utilized to compare interval from onset of PD to development of motor and non-motor complications. RESULTS: We screened 251 subjects and 231 completed the study, of whom 9 were LRRK2+, including 7 AJ subjects. 22.73% of AJ subjects with a family history of PD (FH) and 12.96% of AJ subjects without a FH were LRRK2+. There were no significant differences between the 9 LRRK2+ subjects and 19 matched PD controls in MDS-UPDRS, MoCA, or other motor and non-motor endpoints. CONCLUSION: Prevalence of the LRRK2 G2019S mutation in AJ and non-AJ subjects in our study population in Cleveland, Ohio was comparable to other clinical studies. There were no significant motor or non-motor differences between LRRK2+ PD and matched PD controls.


Asunto(s)
Predisposición Genética a la Enfermedad , Heterocigoto , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Mutación , Enfermedad de Parkinson/genética , Anciano , Estudios Transversales , Femenino , Humanos , Judíos/genética , Masculino , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/fisiopatología , Fenotipo , Proyectos Piloto , Prevalencia
2.
JAMA Neurol ; 74(10): 1223-1227, 2017 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-28892534

RESUMEN

Importance: Fundoscopic examination is an essential component of the neurologic examination. Competence in its performance is mandated as a required clinical skill for neurology residents by the American Council of Graduate Medical Education. Government and private insurance agencies require its performance and documentation for moderate- and high-level neurologic evaluations. Traditionally, assessment and teaching of this key clinical examination technique have been difficult in neurology residency training. Objective: To evaluate the utility of a simulation-based method and the traditional lecture-based method for assessment and teaching of fundoscopy to neurology residents. Design, Setting, and Participants: This study was a prospective, single-blinded, education research study of 48 neurology residents recruited from July 1, 2015, through June 30, 2016, at a large neurology residency training program. Participants were equally divided into control and intervention groups after stratification by training year. Baseline and postintervention assessments were performed using questionnaire, survey, and fundoscopy simulators. Interventions: After baseline assessment, both groups initially received lecture-based training, which covered fundamental knowledge on the components of fundoscopy and key neurologic findings observed on fundoscopic examination. The intervention group additionally received simulation-based training, which consisted of an instructor-led, hands-on workshop that covered practical skills of performing fundoscopic examination and identifying neurologically relevant findings on another fundoscopy simulator. Main Outcomes and Measures: The primary outcome measures were the postintervention changes in fundoscopy knowledge, skills, and total scores. Results: A total of 30 men and 18 women were equally distributed between the 2 groups. The intervention group had significantly higher mean (SD) increases in skills (2.5 [2.3] vs 0.8 [1.8], P = .01) and total (9.3 [4.3] vs 5.3 [5.8], P = .02) scores compared with the control group. Knowledge scores (6.8 [3.3] vs 4.5 [4.9], P = .11) increased nonsignificantly in both groups. Conclusions and Relevance: This study supports the use of a simulation-based method as a supplementary tool to the lecture-based method in the assessment and teaching of fundoscopic examination in neurology residency.


Asunto(s)
Competencia Clínica , Simulación por Computador , Educación de Postgrado en Medicina/métodos , Neurología/educación , Oftalmoscopía , Enseñanza , Instrucción por Computador , Evaluación Educacional , Femenino , Humanos , Internado y Residencia , Masculino , Estudios Retrospectivos , Método Simple Ciego , Encuestas y Cuestionarios
3.
Patient Prefer Adherence ; 11: 965-973, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28579759

RESUMEN

BACKGROUND: Depression is common in people with Parkinson's disease (PD), and exercise is known to improve depression and PD. However, lack of motivation and low self-efficacy can make exercise difficult for people with PD and comorbid depression (PD-Dep). A combined group exercise and chronic disease self-management (CDSM) program may improve the likeli-hood that individuals will engage in exercise and will show a reduction in depression symptoms. The purpose of this study was to compare changes in depression in PD-Dep between individual versus group exercise plus CDSM and to examine participant adherence and perception of the interventions. METHODS: Participants (N=30) were randomized to either Enhanced EXerCisE thErapy for PD (EXCEED; group CDSM and exercise) or self-guided CDSM plus exercise. Outcomes were change in depression assessed with the Montgomery-Asberg Depression Rating Scale (MADRS), cognition, apathy, anxiety, sleep, quality of life, motor function, self-efficacy, and patient satisfaction. RESULTS: Both groups showed significant improvement in MADRS (P<0.001) with no significant group difference. Individuals in EXCEED group enjoyed the group dynamics but noted difficulty with the fixed-time sessions. CONCLUSION: Both group CDSM plus exercise and self-guided CDSM plus exercise can improve depression in PD-Dep. These findings suggest that development of a remotely delivered group-based CDSM format plus manualized exercise program could be useful for this population.

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