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1.
Ann Clin Psychiatry ; 27(1): 33-8, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25696779

RESUMEN

BACKGROUND: Patients with psychogenic parkinsonism (PP), like those with Parkinson's disease (PD), may have tremor, bradykinesia, rigidity, and gait disturbances. Unusual features predominate in PP, but clear psychogenic signs may not be obvious. Because PP may be difficult to diagnose, identifying a wider spectrum of disease manifestations that point toward psychogenic rather than organic parkinsonism could be useful for clinicians. METHODS: We retrospectively reviewed the charts and clinical data for all patients referred for parkinsonism to a single physician at our movement disorders clinic from 1980 to 2012. RESULTS: Patients with PP represented 1.5% of all patients referred for parkinsonism. Among 36 patients with PP, the most common complaints were tremor (31), gait disturbance (18), fatigue (12), and diminished balance (10). Neurologic examination revealed 12 patients with unusual (functional) postures, 5 with a normal exam, and none with micrographia, hypophonia, or hypomimia. Seven of 36 patients improved, 6 of these with antidepressant therapy. CONCLUSIONS: PP is not rare in a movement disorders practice. Leg tremor is more likely in PP than in PD, whereas falls are rare. Unusual (nonphysiologic) postures may be present. The outcome generally is not favorable, although antidepressants are beneficial in some patients with disease duration of <2 years. The presence of micrographia, hypophonia, or hypomimia strongly suggests an organic cause of parkinsonism rather than PP.


Asunto(s)
Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/psicología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
2.
J Neuropsychiatry Clin Neurosci ; 26(1): 57-63, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24275895

RESUMEN

The authors describe neuropsychological outcomes in people with Parkinson's disease (PD) after their participation in an NIH-sponsored, randomized, controlled trial of cognitive-behavioral treatment for depression. Improvements in mood were associated with modest gains in verbal memory and executive functioning over the 10-week treatment period and accounted for greater variance in neuropsychological outcomes at the end of treatment than other known correlates of cognitive functioning in PD, such as disease severity, age, and education. Baseline working memory and executive skills were also associated with depression improvement over time.


Asunto(s)
Terapia Cognitivo-Conductual/métodos , Depresión/etiología , Depresión/rehabilitación , Pruebas Neuropsicológicas , Evaluación de Resultado en la Atención de Salud , Enfermedad de Parkinson/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Función Ejecutiva , Femenino , Humanos , Masculino , Memoria a Corto Plazo , Persona de Mediana Edad , Modelos Estadísticos , Escalas de Valoración Psiquiátrica , Índice de Severidad de la Enfermedad
3.
BMC Med Educ ; 13: 26, 2013 Feb 19.
Artículo en Inglés | MEDLINE | ID: mdl-23421549

RESUMEN

BACKGROUND: Student choice plays a prominent role in the undergraduate curriculum in many contemporary medical schools. A key unanswered question relates to its impact on academic performance. METHODS: We studied 301 students who were in years 2 and 3 of their medical studies in 2005/06. We investigated the relationship between SSC grade and allocated preference. Separately, we examined the impact of 'self-proposing' (students designing and completing their own SSC) on academic performance in other, standard-set, summative assessments throughout the curriculum. The chi-squared test was used to compare academic performance in SSC according to allocated preference. Generalised estimating equations were used to investigate the effect of self-proposing on performance in standard-set examinations. RESULTS: (1) Performance in staff-designed SSC was not related to allocated preference. (2) Performance in year 1 main examination was one of the key predictors of performance in written and OSCE examinations in years 2, 3 and 4 (p<0.001). (3) The higher the score in the year 1 examination, the more likely a student was to self-propose in subsequent years (OR [CI] 1.07 [1.03-1.11], p<0.001). (4) Academic performance of students who self-proposed at least once in years 2 and/or 3 varied according to gender and year of course. CONCLUSION: In this study, no association was observed between allocated preference and SSC grade. The effect of self-proposing on academic performance in standard-set examinations was small. Our findings suggest instead that academically brighter students are more likely to design their own modules. Although student choice may have educational benefits, this report does not provide convincing evidence that it improves academic performance.


Asunto(s)
Escolaridad , Estudiantes de Medicina/psicología , Conducta de Elección , Curriculum , Educación de Pregrado en Medicina/organización & administración , Educación de Pregrado en Medicina/estadística & datos numéricos , Evaluación Educacional , Femenino , Humanos , Estudios Longitudinales , Masculino , Factores Sexuales , Estudiantes de Medicina/estadística & datos numéricos
4.
Am J Geriatr Psychiatry ; 19(3): 222-9, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20808132

RESUMEN

OBJECTIVE: Parkinson's disease (PD) is frequently complicated by depression and there is a paucity of controlled research that can inform the management of this disabling nonmotor complaint. A randomized controlled trial of nortriptyline, paroxetine, and placebo for the treatment of depression in PD (dPD) was recently completed. The purpose of this article is to describe the baseline pattern of depressive symptom presentation in PD, the specific symptoms of dPD that improve with pharmacotherapy, and the residual symptoms that remain in patients who meet a priori criteria for response or remission after acute treatment (8 weeks). SETTING: The Departments of Psychiatry and Neurology at Robert Wood Johnson Medical School, New Jersey. PARTICIPANTS: : Fifty-two depressed patients (major depression or dysthymia based on Diagnostic and Statistical Manual of Mental Disorders 4th edition criteria) with Parkinson's disease (by research criteria). DESIGN/INTERVENTION: A randomized controlled trial of nortriptyline, paroxetine, and placebo. MEASUREMENT: The four subscales (core mood, anxiety, insomnia, and somatic) and individual items from the Hamilton Rating Scale for Depression-17 were the focus of this study. These measures were assessed at baseline and Week 8. RESULTS: Baseline depressive symptoms were unrelated to motor functioning. Treatment response was associated with significant improvements in the core mood, anxiety, insomnia, and somatic symptoms seen in dPD. Residual symptoms, such as sadness and loss of interest, persisted in treatment responders in a milder form than was initially present. CONCLUSIONS: Antidepressants may influence all symptoms of dPD, including those that share great overlap with the physical disease process. Additional research regarding adjunctive interventions is needed to help optimize the management of dPD.


Asunto(s)
Antidepresivos/uso terapéutico , Trastorno Depresivo Mayor/tratamiento farmacológico , Trastorno Distímico/tratamiento farmacológico , Nortriptilina/uso terapéutico , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/tratamiento farmacológico , Paroxetina/uso terapéutico , Trastorno Depresivo Mayor/complicaciones , Trastorno Depresivo Mayor/diagnóstico , Método Doble Ciego , Trastorno Distímico/complicaciones , Trastorno Distímico/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Placebos , Escalas de Valoración Psiquiátrica
5.
J Geriatr Psychiatry Neurol ; 24(4): 206-14, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22228827

RESUMEN

BACKGROUND: Although face-to-face cognitive-behavioral therapy (CBT) was found to be beneficial for the treatment of depression in Parkinson disease (dPD) in a recent randomized-controlled trial, access to care was identified as a critical issue that needs to be addressed in order to improve the management of this nonmotor complication in PD. The purpose of this study was to examine the feasibility and effect of telephone-based CBT for dPD. METHODS: Twenty-one depressed people with PD participated in a National Institutes of Health-sponsored uncontrolled pilot trial of telephone-based CBT in an academic medical center from October 2009 to February 2011. The Hamilton Depression Rating Scale was the primary outcome. Treatment was provided to people with PD for 10 weeks, modified for delivery over the phone, and supplemented with 4 separate phone-based caregiver educational sessions. Assessments were completed at baseline and 5 (midpoint), 10 (end-of-treatment), and 14 weeks (follow-up) post-enrollment. RESULTS: Twenty (95%) people with PD completed the study treatment. Phone-based CBT was associated with significant improvements in depression, anxiety, negative thoughts, and coping. Mean Hamilton Depression Rating Scale change from baseline to week 10 was 7.91 points (P < .001, Cohen d = 1.21). CONCLUSIONS: Telephone-based CBT may be a feasible and helpful approach for treating dPD and warrants further exploration in randomized-controlled trials. Results were comparable to those observed in the few in-person cognitive-behavioral treatment studies for dPD conducted to date.


Asunto(s)
Terapia Cognitivo-Conductual/métodos , Depresión/terapia , Enfermedad de Parkinson/psicología , Telemedicina/estadística & datos numéricos , Centros Médicos Académicos/métodos , Anciano , Terapia Cognitivo-Conductual/instrumentación , Depresión/diagnóstico , Depresión/etiología , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Proyectos Piloto , Escalas de Valoración Psiquiátrica , Ensayos Clínicos Controlados Aleatorios como Asunto , Teléfono/estadística & datos numéricos
6.
J Neuropsychiatry Clin Neurosci ; 22(2): 188-95, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20463113

RESUMEN

Depression is associated with more rapid cognitive decline in Parkinson's disease. The goal of this study was to examine the impact of the acute (8-week) and longer-term (24-week) antidepressant treatment on cognition in Parkinson's disease and to detail cognitive predictors of treatment response. Fifty-two depressed Parkinson's disease patients were enrolled in an NIH-funded randomized, controlled trial of nortriptyline, paroxetine, and placebo. Neuropsychological testing was performed at baseline and weeks 8 and 24. Higher baseline scores on measures of executive functioning, speed of processing, and verbal memory were associated with antidepressant response. Treatment responders did not exhibit larger gains in cognition than nonresponders. Findings warrant replication.


Asunto(s)
Antidepresivos/uso terapéutico , Trastornos del Conocimiento/tratamiento farmacológico , Trastorno Depresivo/tratamiento farmacológico , Nortriptilina/uso terapéutico , Enfermedad de Parkinson/tratamiento farmacológico , Paroxetina/uso terapéutico , Adulto , Anciano de 80 o más Años , Antidepresivos/administración & dosificación , Antidepresivos de Segunda Generación/administración & dosificación , Antidepresivos de Segunda Generación/uso terapéutico , Antidepresivos Tricíclicos/administración & dosificación , Antidepresivos Tricíclicos/uso terapéutico , Trastornos del Conocimiento/complicaciones , Trastorno Depresivo/complicaciones , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Nortriptilina/administración & dosificación , Enfermedad de Parkinson/complicaciones , Paroxetina/administración & dosificación , Factores de Tiempo , Resultado del Tratamiento
7.
Psychosomatics ; 51(6): 474-9, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21051678

RESUMEN

BACKGROUND: Parkinson's disease (PD) affects patients' lives with more than just physical impairment. Many of the non-motor aspects of PD, such as cognitive impairment, depression, and sleep disturbances, are common and are associated with a variety of poor outcomes. However, at present, the pathophysiology and clinical management of these symptoms are poorly understood. OBJECTIVE: The authors sought to determine the associations between various illness-associated cytokines, cortisol, and the non-motor symptoms of PD. METHOD: The authors examined a panel of cytokines (IL-1ß, IL-6, IL-10, TNF-α) and cortisol in a cohort of 52 PD patients with depression. RESULTS: There were a number of significant correlations between the non-motor symptoms and TNF-α. Specifically, the authors found that TNF-α (but not IL-1ß, IL-6, IL-10, or cortisol) was significantly correlated with measures of cognition, depression, and disability. In regression analyses accounting for all variables, TNF-α was consistently significant in explaining variance in cognition, depression, sleep, and disability. CONCLUSION: These data are consistent with a growing body of literature that implicates inflammatory cytokines in neural and behavioral processes and further suggests that TNF-α may be involved in the production and/or maintenance of non-motor symptoms in PD.


Asunto(s)
Trastornos del Conocimiento/fisiopatología , Citocinas/sangre , Depresión/fisiopatología , Enfermedad de Parkinson/fisiopatología , Trastornos del Sueño-Vigilia/fisiopatología , Adulto , Anciano , Anciano de 80 o más Años , Trastornos del Conocimiento/sangre , Depresión/sangre , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Hidrocortisona/metabolismo , Interleucina-1/sangre , Interleucina-10/sangre , Interleucina-6/sangre , Entrevista Psicológica , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/sangre , Escalas de Valoración Psiquiátrica , Calidad de Vida , Análisis de Regresión , Factores de Riesgo , Trastornos del Sueño-Vigilia/sangre , Factor de Necrosis Tumoral alfa/sangre
8.
Med Teach ; 32(5): e211-5, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20423247

RESUMEN

BACKGROUND: The portfolio assessment process is important for assessing learner achievement. AIMS: To study examiner perceptions of Dundee Medical School's portfolio assessment process, in years 4 and 5 of the 5-year curriculum, in relation to: outcomes as a framework for the portfolio assessment process; portfolio content; portfolio assessment process; end points of the portfolio assessment process; appropriateness of the two part final exam format and examiner training. METHODS: A questionnaire containing statements and open questions was used to obtain examiner feedback. Responses to each statement were compared over 3 years: 1999, 2000 and 2003. RESULTS: Response rates were 100%, 88% and 61% in 1999, 2002 and 2003, respectively. Examiners were positive about the ability of institutionally set learning outcomes (Dundee 12 exit learning outcomes) to provide a framework for the portfolio assessment process. They found difficulties, however, with the volume of portfolio content and the time allocated to assess it. Agreeing a grade for each learning outcome for the candidate with their co-examiner did not present difficulties. The comprehensive, holistic picture of the candidate provided by the portfolio assessment process was perceived to be one of its strengths. Examiners were supportive of the final examination format, and were satisfied with their briefing about the process. CONCLUSIONS: The 12 exit learning outcomes of Dundee curriculum provide an appropriate framework for the portfolio assessment process, but the content of the portfolio requires fine-tuning particularly with regard to quantity. Time allocated to examiners for the portfolio assessment process needs to be balanced against practicability. The holistic picture of the candidate provided by the process was one of its strengths.


Asunto(s)
Actitud , Educación de Pregrado en Medicina/métodos , Evaluación Educacional/métodos , Docentes Médicos , Humanos , Sri Lanka , Encuestas y Cuestionarios
9.
Mov Disord ; 24(9): 1325-32, 2009 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-19412944

RESUMEN

Parkinson's disease (PD) is a common neurodegenerative disease affecting up to one million individuals in the United States. Depression is found in 40 to 50% of these patients and is associated with a variety of poor outcomes for both patients and their families. Despite this, there are few evidence-based data to guide clinical care. This was an NIH-funded, randomized, controlled trial of paroxetine, nortriptyline, and placebo. It included an 8 week acute phase and a 16 week blind extension phase. This report details the impact of depression treatment on quality of life (QoL) and disability in the acute and extension phase of this study. Secondary outcomes included relapse, tolerability, safety, and the impact of depression treatment on PD physical functioning. Patients who had improvement in depression, compared with those who did not, had significant gains in measures of QoL and disability (PDQ-8, P = 0.0001; SF-36, P = 0.0001) at 8 weeks and maintained their gains in the extension phase. Patients who were on active drug were significantly less likely to relapse in the extension phase than those on placebo (P = 0.041). Though relatively modest in size, this trial provides the first controlled data on the impact of treatment of depression on QoL and disability in PD. It suggests that successfully treating depression in PD leads to important, sustained improvements in these outcomes and that patients who improve on antidepressants are less likely to relapse than are patients who initially improve on placebo.


Asunto(s)
Antidepresivos/uso terapéutico , Depresión/tratamiento farmacológico , Evaluación de la Discapacidad , Nortriptilina/uso terapéutico , Paroxetina/uso terapéutico , Calidad de Vida/psicología , Adulto , Anciano , Anciano de 80 o más Años , Depresión/etiología , Depresión/psicología , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/tratamiento farmacológico , Escalas de Valoración Psiquiátrica , Recurrencia , Resultado del Tratamiento
10.
Med Educ ; 43(1): 89-98, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19141002

RESUMEN

OBJECTIVES: The objectives of this study were to identify and analyse students' attitudes to the portfolio assessment process over time. METHODS: A questionnaire containing statements and open questions was used to obtain feedback from students at the University of Dundee Medical School, Scotland. The responses to each statement were compared over 4 years (1999, 2000, 2002 and 2003). RESULTS: Response rates were 83% in 1999, 70% in 2000, 89% in 2002 and 88% in 2003. A major finding is that students perceived that portfolio building heightened their understanding of the exit learning outcomes and enabled reflection on their work. Student reactions to the portfolio process were initially negative, although they appreciated that senior staff took time to become familiar with their work through reviewing their portfolios. Student attitudes became more positive over the 4 years as the process evolved. Although portfolio assessment was recognised as supporting student learning, portfolio building was perceived to interfere with clinical learning as a result of the excessive amounts of paper evidence required. CONCLUSIONS: Paperwork should be kept within manageable limits. A student induction process that highlights the importance of providing evidence for achieving all learning outcomes, not just theoretical knowledge and skills, may be helpful in allaying student concern over portfolio building and assessment and support preparation for lifelong learning and reflective clinical practice.


Asunto(s)
Actitud del Personal de Salud , Educación de Pregrado en Medicina/métodos , Evaluación Educacional/métodos , Estudiantes de Medicina/psicología , Escolaridad , Control de Formularios y Registros/métodos , Humanos , Escocia
11.
Med Educ ; 43(10): 936-41, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19769642

RESUMEN

CONTEXT: This review provides a summary of the published literature on the suitability of the long case and its modifications for high-stakes assessment. METHODS: Databases related to medicine were searched for articles published from 2000 to 2008, using the keywords 'long case', 'clinical examinations' and 'clinical assessment'. Reference lists of review articles were hand-searched. Articles related to the objective structured clinical examination were eliminated. Research-based articles with hard data were given more emphasis in this review than those based on opinion. RESULTS: Eighteen articles were identified. The main disadvantage of the long case is its inability to sample the curriculum widely, resulting in low reliability. The main advantage of the long case is its ability to assess the candidate's overall (holistic) approach to the patient. Modifications to the long case attempt to: structure the format and the marking scheme; increase the number of examiners; observe the candidate's behaviour, and increase the number of cases. CONCLUSIONS: The long case is a traditional clinical examination format for the assessment of clinical competence and assessment at this level is important. The starting point for the majority of recent research on the long case has been an acceptance of its low reliability and modifications to the format have been proposed. Further evidence of the efficacy of these modifications is required, however, before they can be recommended for summative assessment. If further research is to be undertaken on the long case, it should focus on finding practicable ways of sampling the curriculum widely to increase reliability while maintaining the holistic approach towards the patient, which represents the attraction of the long case.


Asunto(s)
Educación de Pregrado en Medicina/normas , Evaluación Educacional/métodos , Estudiantes de Medicina/psicología , Competencia Clínica/normas , Diagnóstico , Educación de Pregrado en Medicina/métodos , Evaluación Educacional/normas , Anamnesis , Variaciones Dependientes del Observador , Examen Físico
12.
Med Teach ; 31(10): e484-8, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19877857

RESUMEN

BACKGROUND: Supervisors of some student selected components (SSCs) may appear to give higher grades than others. It is not known if feedback can influence the behaviour of supervisors in the grades they award. We have introduced feedback letters in our institution. AIMS: (1) To assess the feasibility of objectively identifying SSCs where grades awarded are consistently higher or lower than the average; (2) To assess the effect of feedback on the grades awarded by supervisors of SSCs. METHODS: The breakdown of SSC grades was examined over four consecutive years, before and after feedback letters were introduced in 2005. The grades awarded globally, and in five individual SSCs, were compared using the chi(2) goodness-of-fit test. RESULTS: (1) Individual SSCs were identified which awarded grades that were consistently different from the average. (2) Overall grades awarded in 2003/04 and 2004/05 (before feedback) were similar (chi2=0.37, df=2, p=0.83). Likewise, overall grades awarded in 2005/06 and 2006/07 (after feedback) were similar (chi2=1.72, df=2, p=0.42). Comparison of 2003/04 with 2005/06 (chi2=16.0, df=2, p<0.001), and 2006/07 (chi2=26.6, df=2, p<0.001), and of 2004/05 with 2005/06 (chi2=13.5, df=2, p=0.001), and 2006/07 (chi2=23.7, df=2, p<0.001), revealed highly significant differences. The grades awarded after feedback were higher than the grades awarded before feedback. CONCLUSIONS: The chi2 goodness-of-fit test may be used to identify individual SSCs where the grades awarded are different from the average, although the interpretation of the results thus obtained is fraught with difficulty. Our data also suggest that it is possible to influence assessors in the grades they award.


Asunto(s)
Curriculum , Evaluación Educacional/métodos , Variaciones Dependientes del Observador , Facultades de Medicina/organización & administración , Humanos
13.
Med Teach ; 31(10): e489-93, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19877858

RESUMEN

BACKGROUND: Student selected components (SSCs) are staff-designed modules selected by students from a menu of options provided separately from the 'core' curriculum. Students completing these do not always learn what teachers think they teach. Some medical schools also allow students to design their own modules. It is not known whether greater student input into planning of modules is associated with closer alignment of planned and learnt outcomes. AIMS: To compare student perception of learning outcomes addressed by student-designed ('self-proposed') SSCs, before and after completion, using the 'Dundee learning outcomes' template that we apply to all components of the undergraduate curriculum. METHODS: Students were required at the time of self-proposal, and subsequently as part of feedback on completed modules, to indicate which of twelve learning outcomes they felt were addressed by their self-proposed SSC. The chi2 test was used to compare student perceptions of learning outcomes before and after completion. RESULTS: More students thought that learning outcome 10 (appropriate decision making skills, clinical reasoning and judgement) was addressed after completion than before (96.3% versus 90.0%, chi2 4.99, p=0.02); for all other learning outcomes global perceptions were not significantly different after completion. Individual changes in perception ranged from 2.1% for outcome 12 (aptitude for personal development) to 19.6% for outcome 2 (competent to perform practical procedures). CONCLUSION: Greater student input into planning of modules is associated with closer alignment of planned and learnt outcomes. Our findings provide further evidence for the benefit of student-directed learning.


Asunto(s)
Curriculum , Evaluación Educacional/métodos , Percepción , Facultades de Medicina/organización & administración , Estudiantes de Medicina , Competencia Clínica , Comunicación , Toma de Decisiones , Humanos , Internet , Rol del Médico , Estudios Retrospectivos , Programas de Autoevaluación , Administración del Tiempo
14.
Hum Genet ; 124(1): 95-9, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18587682

RESUMEN

Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian populations. In the current study we genotyped three single nucleotide polymorphisms in ELAVL4 in a Caucasian study sample consisting of 712 PD patients and 312 unrelated controls from the GenePD study. The minor allele of rs967582 was associated with increased risk of PD (odds ratio = 1.46, nominal P value = 0.011) in the GenePD population. The minor allele of rs967582 was also the risk allele for PD affection or earlier onset age in the previously studied populations. This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene.


Asunto(s)
Proteínas ELAV/genética , Ligamiento Genético , Enfermedad de Parkinson/genética , Edad de Inicio , Anciano , Estudios de Cohortes , Bases de Datos Genéticas , Proteínas ELAV/fisiología , Proteína 4 Similar a ELAV , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Masculino , Metaanálisis como Asunto , Persona de Mediana Edad , Polimorfismo Genético
15.
BMC Med ; 6: 32, 2008 Nov 05.
Artículo en Inglés | MEDLINE | ID: mdl-18986508

RESUMEN

BACKGROUND: We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD. METHODS: A sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different LRRK2 mutations. Penetrance was estimated in families of LRRK2 carriers with consideration of the inherent bias towards increased penetrance in a familial sample. RESULTS: Thirty-one out of 509 families with multiple cases of PD (6.1%) were found to have 58 LRRK2 mutation carriers (6.4%). Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the LRRK2 mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-LRRK2-related PD families. CONCLUSION: Lifetime penetrance of LRRK2 estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained LRRK2 cases, suggesting that inherited susceptibility factors may modify the penetrance of LRRK2 mutations. In addition, the presence of nine PD phenocopies in the LRRK2 families suggests that these susceptibility factors may also increase the risk of non-LRRK2-related PD. No differences in penetrance were found between men and women, suggesting that the factors that influence penetrance for LRRK2 carriers are independent of the factors which increase PD prevalence in men.


Asunto(s)
Glicina/genética , Mutación/genética , Enfermedad de Parkinson/genética , Penetrancia , Proteínas Serina-Treonina Quinasas/genética , Serina/genética , Factores de Edad , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/patología , Distribución Aleatoria , Factores Sexuales
16.
Mov Disord ; 23(11): 1596-601, 2008 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-18649400

RESUMEN

The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.


Asunto(s)
Salud de la Familia , Enfermedad de Huntington/genética , Proteínas del Tejido Nervioso/genética , Proteínas Nucleares/genética , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/fisiopatología , Repeticiones de Trinucleótidos/genética , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Femenino , Genotipo , Humanos , Proteína Huntingtina , Enfermedad de Huntington/epidemiología , Masculino , Persona de Mediana Edad
17.
Med Teach ; 30(9-10): e175-9, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-19117214

RESUMEN

BACKGROUND: It is well recognized that what teachers teach and what students learn may not be the same. This applies to all parts of the undergraduate medical curriculum, but may be especially relevant to student selected components, which vary substantially in their educational content. This has not been studied previously. AIMS: To compare perceptions of students and supervisors in relation to learning outcomes addressed by student selected components, and thus to examine differences between what is taught and what is learned. METHODS: Supervisors (n = 69) were asked to indicate which of twelve learning outcomes they felt were components of teaching and assessment. Upon completion of each SSC, students were required to complete the same outcomes template as part of their feedback (n = 644). Perceptions were compared in two ways: (1) a colour-coded 'traffic-light' system was used to record agreement/disagreement between students and supervisors of individual SSCs; (2) differences in perception of outcomes across the entire SSC programme were compared using the chi(2) statistic. RESULTS: (1) The 'traffic-light' system readily identified individual SSCs where significant disagreement existed and which were subject to further scrutiny. (2) More students than supervisors thought that outcome 2 (competent to perform practical procedures) was a component of teaching and assessment (41.8% v 27.5%, chi(2) = 5.24, p = 0.02), whereas more supervisors than students thought that outcome 6 (competent in communication skills) (97.1% v 82.1%, chi(2) = 6.91, p = 0.009) and outcome 7 (competent to retrieve and handle information) (100% v 93.7%, chi(2) = 4.8, p = 0.02) were. CONCLUSIONS: Significant disagreement exists about the outcomes addressed by SSCs, suggesting that students do not always learn what teachers think they teach. The use of two complementary approaches allows global and individual comparisons to be drawn and thus provides a powerful tool to address this important issue.


Asunto(s)
Educación de Pregrado en Medicina/métodos , Evaluación Educacional/métodos , Docentes , Aprendizaje , Percepción , Estudiantes de Medicina/psicología , Educación Basada en Competencias/métodos , Humanos , Autoevaluación (Psicología) , Enseñanza , Reino Unido
18.
Med Teach ; 29(7): 717-22, 2007 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18236260

RESUMEN

Outcome-based education is one of the most significant global developments in medical education in recent years. This paper presents four case studies of outcome-based education from medical schools in different parts of the world; Scotland; USA; Pakistan; and Singapore. The outcome-based curricula have either been in place for some time, are evolving or are at the planning proposal stage. The outcomes, change process and implementation of the outcome-based approach are described. Variation in the extent to which each medical school has implemented outcome-based education is discussed and key points for successful implementation are highlighted. This paper is based on the pre-conference symposium "outcome-based curricula: global perspectives" presented by the authors at the 4th Asia Pacific Medical Education Conference (APMEC) in Singapore, 8-11 February, 2007.


Asunto(s)
Educación Basada en Competencias/normas , Curriculum , Educación Médica/normas , Modelos Educacionales , Competencia Profesional/normas , Educación Basada en Competencias/métodos , Educación Basada en Competencias/tendencias , Congresos como Asunto , Educación Médica/tendencias , Humanos , Internacionalidad , Estudios de Casos Organizacionales , Pakistán , Facultades de Medicina , Escocia , Singapur , Estados Unidos
19.
Arch Neurol ; 63(6): 826-32, 2006 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16769863

RESUMEN

BACKGROUND: The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD). OBJECTIVE: To evaluate the influence of heterozygosity for parkin mutation on onset age in a sample of families with at least 2 PD-affected members. DESIGN: Clinical and genetic study. SETTING: Twenty collaborative clinical sites. PATIENTS: Patients with familial PD collected in the GenePD study. Studied families were selected for (1) affected sibling pairs sharing 2 alleles identical by state at PARK2 (D6S305) or (2) 1 or more family members with onset age younger than 54 years, regardless of D6S305 status. At least 1 member from each of 183 families underwent comprehensive screening for deletion/insertion variants and point mutations in PARK2. MAIN OUTCOME MEASURES: Mutations in the parkin gene were screened by means of single-stranded conformation polymorphism and sequencing in all 12 coding exons and flanking intronic sequences for point mutations and duplex quantitative polymerase chain reaction in all exons for rearrangement, duplication, and deletion. RESULTS: Mutations were found in 23 families (12.6% of those screened). Among the mutation-positive families, 10 (43%) contained compound heterozygotes; 3 (13%), homozygotes; and 10 (43%), heterozygotes. The onset age in patients with parkin gene mutations ranged from 20 to 76 years. Patients with 1 parkin mutation had an 11.7-year age at onset than did patients with none (P = .04), and patients with 2 or more parkin mutations had a 13.2-year decrease in age at onset compared with patients with 1 mutation (P = .04). CONCLUSIONS: These data indicate that parkin mutations are not rare in multiply affected sibships, and that heterozygous mutation carrier status in PARK2 significantly influences age at onset of PD.


Asunto(s)
Salud de la Familia , Heterocigoto , Mutación , Enfermedad de Parkinson/genética , Ubiquitina-Proteína Ligasas/genética , Adulto , Edad de Inicio , Anciano , Análisis Mutacional de ADN/métodos , Exones , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Cooperación Internacional , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/epidemiología
20.
J Vet Med Educ ; 33(4): 578-87, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-17220501

RESUMEN

The Objective Structured Clinical Examination (OSCE) has become an excellent tool to evaluate many elements of a student's clinical skills, especially including communication with the patient (human medicine) or client (veterinary medicine); eliciting clinical information from these conversations; some aspects of the physical examination; and many areas of clinical evaluation and assessment. One key factor is that the examination can be structured to compare different students' abilities.


Asunto(s)
Competencia Clínica , Educación en Veterinaria/normas , Evaluación Educacional/normas , Veterinarios/psicología , Acreditación , Animales , Competencia Clínica/normas , Evaluación Educacional/métodos , Humanos , Estudiantes
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