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1.
J Neurol Neurosurg Psychiatry ; 94(11): 893-903, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37399287

RESUMEN

BACKGROUND: Rapid eye movement (REM) sleep behaviour disorder (RBD) is one of the earliest and most specific prodromes of the α-synucleinopathies including Parkinson's disease (PD). It remains uncertain whether RBD occurring in the context of psychiatric disorders (psy-RBD), although very common, is merely a benign epiphenomenon of antidepressant treatment, or whether it harbours an underlying α-synucleinopathy. We hypothesised that patients with psy-RBD demonstrate a familial predisposition to an α-synucleinopathy. METHODS: In this case-control-family study, a combination of family history and family study method was used to measure the α-synucleinopathy spectrum features, which included RBD, neurodegenerative prodromal markers and clinical diagnoses of neurodegenerative disorders. We compared the risk of α-synucleinopathy spectrum features in the first-degree relatives (FDRs) of patients with psy-RBD, psychiatric controls and healthy controls. RESULTS: There was an increase of α-synucleinopathy spectrum features in the psy-RBD-FDRs, including possible and provisional RBD (adjusted HR (aHR)=2.02 and 6.05, respectively), definite RBD (adjusted OR=11.53) and REM-related phasic electromyographic activities, prodromal markers including depression (aHR=4.74) and probable subtle parkinsonism, risk of prodromal PD and clinical diagnosis of PD/dementia (aHR=5.50), as compared with healthy-control-FDRs. When compared with psychiatric-control-FDRs, psy-RBD-FDRs consistently presented with a higher risk for the diagnosis and electromyographic features of RBD, diagnosis of PD/dementia (aHR=3.91) and risk of prodromal PD. In contrast, psychiatric controls only presented with a familial aggregation of depression. CONCLUSION: Patients with psy-RBD are familially predisposed to α-synucleinopathy. The occurrence of RBD with major depression may signify a subtype of major depressive disorders with underlying α-synucleinopathy neurodegeneration. TRIAL REGISTRATION NUMBER: NCT03595475.

2.
Neurol Sci ; 43(12): 6803-6811, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36048377

RESUMEN

INTRODUCTION: The interrelationship between neurocognitive impairments and motor functions was observed in patients with advanced Parkinson's disease (PD). This study was conducted to identify pre-operative neurocognitive and clinical predictors of short-term motor outcome following subthalamic nucleus deep brain stimulation (STN-DBS). METHODS: All consecutive PD patients who were eligible for bilateral STN-DBS from 2009 to 2019 were evaluated before and at 1 year following surgery. Standard motor evaluation and neurocognitive tests including global cognition, memory, executive functions (attention and category fluency), confrontational speech, visuospatial abilities, and mood were conducted at baseline. The post-operative STN-DBS effects were assessed at 1 year following the surgery. Multiple regression analysis was applied to identify baseline independent predictors of post-operative STN-DBS effect. RESULTS: A total of 82 patients were analyzed. It was found that younger age at operation, higher levodopa responsiveness at baseline based on UPDRS-III total score, and better baseline verbal delayed memory and category fluency predicted post-operative motor outcome at 1 year following STN-DBS (F = 9.639, p < 0.001, R2 = .340). CONCLUSION: Our findings demonstrated the role of baseline cognitive burden, especially cognitive processes related to frontostriatal circuits, was significant clinical predictors of short-term motor outcomes following STN-DBS. Profile analysis of neurocognitive functions at baseline is recommended.


Asunto(s)
Estimulación Encefálica Profunda , Enfermedad de Parkinson , Núcleo Subtalámico , Humanos , Núcleo Subtalámico/fisiología , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/terapia , Enfermedad de Parkinson/psicología , Levodopa , Cognición , Resultado del Tratamiento
3.
Artículo en Inglés | MEDLINE | ID: mdl-33239439

RESUMEN

BACKGROUND: Intracranial atherosclerotic disease (ICAD) is globally a major ischaemic stroke subtype with high recurrence. Understanding the morphology of symptomatic ICAD plaques, largely unknown by far, may help identify vulnerable lesions prone to relapse. METHODS: We prospectively recruited patients with acute ischaemic stroke or transient ischaemic attack attributed to high-grade ICAD (60%-99% stenosis). Plaque morphological parameters were assessed in three-dimensional rotational angiography, including surface contour, luminal stenosis, plaque length/thickness, upstream shoulder angulation, axial/longitudinal plaque distribution and presence of adjoining branch atheromatous disease (BAD). We compared morphological features of smooth, irregular and ulcerative plaques and correlated them with cerebral ischaemic lesion load downstream in MRI. RESULTS: Among 180 recruited patients (median age=60 years; 63.3% male; median stenosis=75%), plaque contour was smooth (51 (28.3%)), irregular (101 (56.1%)) or ulcerative (28 (15.6%)). Surface ulcers were mostly at proximal (46.4%) and middle one-third (35.7%) of the lesions. Most (84.4%) plaques were eccentric, and half had their maximum thickness over the distal end. Ulcerative lesions were thicker (medians 1.6 vs 1.3 mm; p=0.003), had steeper upstream shoulder angulation (56.2° vs 31.0°; p<0.001) and more adjoining BAD (83.3% vs 57.0%; p=0.033) than non-ulcerative plaques. Ulcerative plaques were significantly associated with coexisting acute and chronic infarcts downstream (35.7% vs 12.5%; adjusted OR 4.29, 95% CI 1.65 to 11.14, p=0.003). Sensitivity analyses in patients with anterior-circulation ICAD lesions showed similar results in the associations between the plaque types and infarct load. CONCLUSIONS: Ulcerative intracranial atherosclerotic plaques were associated with vulnerable morphological features and had a higher cumulative infarct load downstream.

4.
Hum Mol Genet ; 26(1): 226-232, 2017 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-28011712

RESUMEN

Genome-wide association studies (GWAS) on Parkinson's disease (PD) have mostly been done in Europeans and Japanese. No study has been done in Han Chinese, which make up nearly a fifth of the world population. We conducted the first Han Chinese GWAS analysing a total of 22,729 subjects (5,125 PD cases and 17,604 controls) from Singapore, Hong Kong, Malaysia, Korea, mainland China and Taiwan. We performed imputation, merging and logistic regression analyses of 2,402,394 SNPs passing quality control filters in 779 PD cases, 13,227 controls, adjusted for the first three principal components. 90 SNPs with association P < 10-4 were validated in 9 additional sample collections and the results were combined using fixed-effects inverse-variance meta-analysis. We observed strong associations reaching genome-wide significance at SNCA, LRRK2 and MCCC1, confirming their important roles in both European and Asian PD. We also identified significant (P < 0.05) associations at 5 loci (DLG2, SIPA1L2, STK39, VPS13C and RIT2), and observed the same direction of associations at 9 other loci including BST1 and PARK16. Allelic heterogeneity was observed at LRRK2 while European risk SNPs at 6 other loci including MAPT and GBA-SYT11 were non-polymorphic or very rare in our cohort. Overall, we replicate associations at SNCA, LRRK2, MCCC1 and 14 other European PD loci but did not identify Asian-specific loci with large effects (OR > 1.45) on PD risk. Our results also demonstrate some differences in the genetic contribution to PD between Europeans and Asians. Further pan-ethnic meta-analysis with European GWAS cohorts may unravel new PD loci.


Asunto(s)
Biomarcadores/metabolismo , Etnicidad/genética , Sitios Genéticos/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Biomarcadores/análisis , Estudios de Casos y Controles , Asia Oriental/epidemiología , Femenino , Genotipo , Humanos , Masculino , Metaanálisis como Asunto , Persona de Mediana Edad , Factores de Riesgo
5.
Int J Geriatr Psychiatry ; 33(5): 729-734, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29292529

RESUMEN

BACKGROUND: The Montreal Cognitive Assessment (MoCA) is psychometrically superior over the Mini-mental State Examination (MMSE) for cognitive screening in stroke or transient ischemic attack (TIA). It is free for clinical and research use. The objective of this study is to convert scores from the MMSE to MoCA and MoCA-5-minute protocol (MoCA-5 min) and to examine the ability of the converted scores in detecting cognitive impairment after stroke or TIA. METHODS: A total of 904 patients were randomly divided into training (n = 623) and validation (n = 281) samples matched for demography and cognition. MMSE scores were converted to MoCA and MoCA-5 min using (1) equipercentile method with log-linear smoothing and (2) Poisson regression adjusting for age and education. Receiver operating characteristics curve analysis was used to examine the ability of the converted scores in differentiating patients with cognitive impairment. RESULTS: The mean education was 5.8 (SD = 4.6; ranged 0-20) years. The entire spectrum of MMSE scores was converted to MoCA and MoCA-5 min using equipercentile method. Relationship between MMSE and MoCA scores was confounded by age and education, and a conversion equation with adjustment for age and education was derived. In the validation sample, the converted scores differentiated cognitively impaired patients with area under receiver operating characteristics curve 0.826 to 0.859. CONCLUSION: We provided 2 methods to convert scores from the MMSE to MoCA and MoCA-5 min based on a large sample of patients with stroke or TIA having a wide range of education and cognitive levels. The converted scores differentiated patients with cognitive impairment after stroke or TIA with high accuracy.


Asunto(s)
Escalas de Valoración Psiquiátrica Breve , Disfunción Cognitiva/diagnóstico , Ataque Isquémico Transitorio/complicaciones , Pruebas Neuropsicológicas/normas , Accidente Cerebrovascular/complicaciones , Anciano , Anciano de 80 o más Años , Disfunción Cognitiva/psicología , Femenino , Humanos , Ataque Isquémico Transitorio/psicología , Masculino , Pruebas de Estado Mental y Demencia , Persona de Mediana Edad , Psicometría , Curva ROC , Accidente Cerebrovascular/psicología
6.
J Neuroeng Rehabil ; 15(1): 30, 2018 04 06.
Artículo en Inglés | MEDLINE | ID: mdl-29625628

RESUMEN

BACKGROUND: The application of rehabilitation robots has grown during the last decade. While meta-analyses have shown beneficial effects of robotic interventions for some patient groups, the evidence is less in others. We established the Advanced Robotic Therapy Integrated Centers (ARTIC) network with the goal of advancing the science and clinical practice of rehabilitation robotics. The investigators hope to exploit variations in practice to learn about current clinical application and outcomes. The aim of this paper is to introduce the ARTIC network to the clinical and research community, present the initial data set and its characteristics and compare the outcome data collected so far with data from prior studies. METHODS: ARTIC is a pragmatic observational study of clinical care. The database includes patients with various neurological and gait deficits who used the driven gait orthosis Lokomat® as part of their treatment. Patient characteristics, diagnosis-specific information, and indicators of impairment severity are collected. Core clinical assessments include the 10-Meter Walk Test and the Goal Attainment Scaling. Data from each Lokomat® training session are automatically collected. RESULTS: At time of analysis, the database contained data collected from 595 patients (cerebral palsy: n = 208; stroke: n = 129; spinal cord injury: n = 93; traumatic brain injury: n = 39; and various other diagnoses: n = 126). At onset, average walking speeds were slow. The training intensity increased from the first to the final therapy session and most patients achieved their goals. CONCLUSIONS: The characteristics of the patients matched epidemiological data for the target populations. When patient characteristics differed from epidemiological data, this was mainly due to the selection criteria used to assess eligibility for Lokomat® training. While patients included in randomized controlled interventional trials have to fulfill many inclusion and exclusion criteria, the only selection criteria applying to patients in the ARTIC database are those required for use of the Lokomat®. We suggest that the ARTIC network offers an opportunity to investigate the clinical application and effectiveness of rehabilitation technologies for various diagnoses. Due to the standardization of assessments and the use of a common technology, this network could serve as a basis for researchers interested in specific interventional studies expanding beyond the Lokomat®.


Asunto(s)
Bases de Datos como Asunto/organización & administración , Dispositivo Exoesqueleto , Trastornos Neurológicos de la Marcha/rehabilitación , Femenino , Humanos , Masculino
7.
Hum Mol Genet ; 23(14): 3891-7, 2014 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-24565865

RESUMEN

To evaluate the contribution of non-synonymous-coding variants of known familial and genome-wide association studies (GWAS)-linked genes for Parkinson's disease (PD) to PD risk in the East Asian population, we sequenced all the coding exons of 39 PD-related disease genes and evaluated the accumulation of rare non-synonymous-coding variants in 375 early-onset PD cases and 399 controls. We also genotyped 782 non-synonymous-coding variants of these genes in 710 late-onset PD cases and 9046 population controls. Significant enrichment of LRRK2 variants was observed in both early- and late-onset PD (odds ratio = 1.58; 95% confidence interval = 1.29-1.93; P = 8.05 × 10(-6)). Moderate enrichment was also observed in FGF20, MCCC1, GBA and ITGA8. Half of the rare variants anticipated to cause loss of function of these genes were present in healthy controls. Overall, non-synonymous-coding variants of known familial and GWAS-linked genes appear to make a limited contribution to PD risk, suggesting that clinical sequencing of these genes will provide limited information for risk prediction and molecular diagnosis.


Asunto(s)
Pueblo Asiatico/genética , Variación Genética , Enfermedad de Parkinson/genética , Análisis de Secuencia de ADN/métodos , Anciano , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Sistemas de Lectura Abierta , Polimorfismo de Nucleótido Simple
8.
Ann Neurol ; 77(3): 478-86, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25557926

RESUMEN

OBJECTIVE: Understanding how symptomatic intracranial atherosclerotic disease (ICAD) evolves with current medical therapy may inform secondary stroke prevention. METHODS: In a prospective academic-initiated study, we recruited 50 patients (mean age = 63.4 ± 9.0 years) with acute strokes attributed to high-grade (≥70%) intracranial atherosclerotic stenosis for 3-dimensional rotational angiograms before and after intensive medical therapy for 12 months. Treatment targets included low-density lipoprotein ≤ 70mg/dl, glycosylated hemoglobin (HbA1c) ≤ 6.5%, and systolic blood pressure ≤ 140 mmHg. We analyzed infarct topography and monitored microembolic signal in recurrent strokes. The reference group was a published cohort of 143 ICAD patients. RESULTS: Overall, the stenoses regressed from 79% at baseline (interquartile range [IQR] = 71-87%) to 63% (IQR = 54-74%) in 1 year (p < 0.001). Specifically, the qualifying lesions (n = 49) regressed (stenosis reduced >10%) in 24 patients (49%), remained quiescent (stenosis same or ±10%) in 21 patients (43%), and progressed (stenosis increased >10%) in 4 patients (8%). There was no difference in intensity of risk factor control between groups of diverging clinical or angiographic outcomes. Higher HbA1c at baseline predicted plaque regression at 1 year (odds ratio = 4.4, 95% confidence interval = 1.4-14.5, p = 0.006). Among the 6 patients with recurrent strokes pertaining to the qualifying stenosis, 5 patients had solitary or rosarylike acute infarcts along the internal or anterior border zones, and 2 patients showed microembolic signals in transcranial Doppler ultrasound. INTERPRETATION: A majority of symptomatic high-grade intracranial plaques had regressed or remained quiescent by 12 months under intensive medical therapy. Artery-to-artery thromboembolism with impaired washout at border zones was a common mechanism in stroke recurrence.


Asunto(s)
Constricción Patológica/tratamiento farmacológico , Arteriosclerosis Intracraneal/tratamiento farmacológico , Placa Aterosclerótica/tratamiento farmacológico , Accidente Cerebrovascular/tratamiento farmacológico , Resultado del Tratamiento , Anciano , Angiografía Cerebral , Constricción Patológica/complicaciones , Constricción Patológica/diagnóstico , Femenino , Humanos , Imagenología Tridimensional , Arteriosclerosis Intracraneal/complicaciones , Arteriosclerosis Intracraneal/diagnóstico , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Placa Aterosclerótica/diagnóstico , Recurrencia , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/etiología
9.
Alzheimers Dement ; 12(11): 1167-1176, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27327542

RESUMEN

INTRODUCTION: Patients surviving stroke without immediate dementia are at high risk of delayed-onset dementia. Mechanisms underlying delayed-onset dementia are complex and may involve vascular and/or neurodegenerative diseases. METHODS: Dementia-free patients with stroke and/or transient ischemic attack (TIA; n = 919) were studied for 3 years prospectively, excluding those who developed dementia 3 to 6 months after stroke and/or TIA. RESULTS: Forty subjects (4.4%) developed dementia during the study period. Imaging markers of severe small vessel disease (SVD), namely presence of ≥3 lacunes and confluent white matter changes; history of hypertension and diabetes mellitus independently predicted delayed-onset dementia after adjustment for age, gender, and education. Only 6 of 31 (19.4%) subjects with delayed cognitive decline harbored Alzheimer's disease-like Pittsburg compound B (PiB) retention. Most PiB cases (16/25, 64%) had evidence of severe SVD. DISCUSSION: Severe SVD contributes importantly to delayed-onset dementia after stroke and/or TIA. Future clinical trials aiming to prevent delayed-onset dementia after stroke and/or TIA should target this high-risk group.


Asunto(s)
Demencia/etiología , Ataque Isquémico Transitorio/complicaciones , Accidente Cerebrovascular/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Compuestos de Anilina , Apolipoproteínas E/genética , Encéfalo/diagnóstico por imagen , Demencia/diagnóstico por imagen , Femenino , Fluorodesoxiglucosa F18 , Estudios de Seguimiento , Humanos , Ataque Isquémico Transitorio/diagnóstico por imagen , Ataque Isquémico Transitorio/psicología , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Fenantrolinas , Tomografía de Emisión de Positrones , Estudios Prospectivos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/psicología , Tiazoles , Factores de Tiempo , Tomografía Computarizada por Rayos X , Adulto Joven
10.
Stroke ; 46(4): 1059-64, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25700290

RESUMEN

BACKGROUND AND PURPOSE: The National Institute of Neurological Disorders and Stroke-Canadian Stroke Network Vascular Cognitive Impairment Harmonization working group proposed a brief cognitive protocol for screening of vascular cognitive impairment. We investigated the validity, reliability, and feasibility of the Montreal Cognitive Assessment 5-minute protocol (MoCA 5-minute protocol) administered over the telephone. METHODS: Four items examining attention, verbal learning and memory, executive functions/language, and orientation were extracted from the MoCA to form the MoCA 5-minute protocol. One hundred four patients with stroke or transient ischemic attack, including 53 with normal cognition (Clinical Dementia Rating, 0) and 51 with cognitive impairment (Clinical Dementia Rating, 0.5 or 1), were administered the MoCA in clinic and a month later, the MoCA 5-minute protocol over the telephone. RESULTS: Administration of the MoCA 5-minute protocol took 5 minutes over the telephone. Total score of the MoCA 5-minute protocol correlated negatively with age (r=-0.36; P<0.001) and positively with years of education (r=0.41; P<0.001) but not with sex (ρ=0.03; P=0.773). Total scores of the MoCA and MoCA 5-minute protocol were highly correlated (r=0.87; P<0.001). The MoCA 5-minute protocol performed equally well as the MoCA in differentiating patients with cognitive impairment from those without (areas under receiver operating characteristics curve for MoCA 5-minute protocol, 0.78; MoCA=0.74; P>0.05 for difference; Cohen d for group difference, 0.80-1.13). It differentiated cognitively impaired patients with executive domain impairment from those without (areas under receiver operating characteristics curve, 0.89; P<0.001; Cohen d=1.7 for group difference). Thirty-day test-retest reliability was excellent (intraclass correlation coefficient, 0.89). CONCLUSIONS: The MoCA 5-minute protocol is a free, valid, and reliable cognitive screen for stroke and transient ischemic attack. It is brief and highly feasible for telephone administration.


Asunto(s)
Trastornos del Conocimiento/diagnóstico , Ataque Isquémico Transitorio/complicaciones , Pruebas Neuropsicológicas/normas , Psicometría/instrumentación , Accidente Cerebrovascular/complicaciones , Telemedicina/métodos , Anciano , Anciano de 80 o más Años , Trastornos del Conocimiento/etiología , Estudios de Factibilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Teléfono
11.
Dement Geriatr Cogn Disord ; 40(3-4): 130-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26088186

RESUMEN

BACKGROUND: We explored the association between cerebral microbleeds (CMBs) and cognitive impairment in patients with ischemic stroke/transient ischemic attack (TIA). METHODS: A total of 488 ischemic stroke/TIA patients received magnetic resonance imaging. Montreal Cognitive Assessment (MoCA) was used to evaluate global cognitive function and cognitive domains. The association of CMB quantity with cognitive function and the impact of CMB locations (strictly lobar, strictly deep, and mixed regions) on cognitive impairment were examined in regression models with adjustments for confounders. RESULTS: A total of 113 subjects (23.2%) had ≥1 CMB. Strictly lobar, strictly deep, and mixed CMBs were identified in 36, 40, and 37 patients, respectively. The presence of ≥5 CMBs or strictly deep CMBs was associated with the MoCA total score (p = 0.007 and 0.020, respectively). Of all MoCA domains tested, a lower score in the attention domain was related to the presence of ≥5 CMBs (p = 0.014) and strictly deep CMBs (p = 0.028). CONCLUSION: CMBs were associated with cognitive dysfunction in stroke/TIA patients, especially in the attention domain. This association was mainly driven by CMBs in the deep region, underlining the role of hypertensive microangiopathy in stroke-related cognitive impairment.


Asunto(s)
Isquemia Encefálica/complicaciones , Hemorragia Cerebral/complicaciones , Trastornos del Conocimiento/etiología , Accidente Cerebrovascular/complicaciones , Anciano , Femenino , Humanos , Ataque Isquémico Transitorio/complicaciones , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas
12.
Neurol Sci ; 36(8): 1371-7, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25708249

RESUMEN

The present study investigated the neuropsychological effects of bilateral deep brain stimulation (DBS) on subthalamic nucleus (STN) in Chinese-Cantonese patients with idiopathic Parkinson's disease (PD). Twenty-seven patients were prospectively recruited from the Movement Disorder Clinic at the Hong Kong Prince of Wales Hospital. Neuropsychological evaluations were performed at baseline, 6 and 12 months following the DBS procedure. Assessment battery included standardized tests on global cognitive function, verbal memory, non-verbal memory, confrontation naming, visuospatial organization, attention and executive functions. Anxiety and depressive symptoms were measured by two self-reported questionnaires. Results demonstrated diminished performance on a category fluency task that occurred at 6 months post-operatively and persisted at 12-month re-evaluation; 29.6-33.3 % of patients showed reduction of more than 1 SD (standard deviation) at post-operative measure. Conversely, performance on an immediate recall task in a verbal memory test was found to improve significantly at the same time point and persisted through 12 months after surgery; 22.2-25.9 % showed an improvement (≥1 SD). Psychologically, anxiety symptoms were statistically decreased and the significant reduction occurred at 12 months after surgery. Patients who reported a moderate to severe level of anxiety reduced from 51.9 to 18.5 %. Our findings concurred with most evidences on the effects of STN-DBS on verbal fluency; on the other hand, we demonstrated improvement of immediate verbal memory that warranted further investigation.


Asunto(s)
Trastornos del Conocimiento/terapia , Estimulación Encefálica Profunda/métodos , Trastornos de la Memoria/terapia , Núcleo Subtalámico/fisiología , Conducta Verbal/fisiología , Aprendizaje Verbal/fisiología , Anciano , Pueblo Asiatico/etnología , Trastornos del Conocimiento/etiología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Trastornos de la Memoria/etiología , Persona de Mediana Edad , Pruebas Neuropsicológicas , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/terapia , Estadísticas no Paramétricas
13.
J Med Genet ; 51(9): 590-5, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25062847

RESUMEN

BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. At present, there is no cure for SCAs. Of the different distinct subtypes of autosomal-dominant SCAs identified to date, causative genes for only a fraction of them are currently known. In this study, we investigated the cause of an autosomal-dominant SCA phenotype in a family that exhibits cerebellar ataxia and pontocerebellar atrophy along with a global reduction in brain volume. METHODS AND RESULTS: Whole-exome analysis revealed a missense mutation c.G1391A (p.R464H) in the coding region of the coiled-coil domain containing 88C (CCDC88C) gene in all affected individuals. Functional studies showed that the mutant form of CCDC88C activates the c-Jun N-terminal kinase (JNK) pathway, induces caspase 3 cleavage and triggers apoptosis. CONCLUSIONS: This study expands our understanding of the cause of autosomal-dominant SCAs, a group of heterogeneous congenital neurological conditions in humans, and unveils a link between the JNK stress pathway and cerebellar atrophy.


Asunto(s)
Péptidos y Proteínas de Señalización Intracelular/genética , Sistema de Señalización de MAP Quinasas/genética , Proteínas de Microfilamentos/genética , Mutación Missense/genética , Ataxias Espinocerebelosas/genética , Secuencia de Aminoácidos , Secuencia de Bases , Encéfalo/diagnóstico por imagen , Análisis Mutacional de ADN , Exoma/genética , Hong Kong , Humanos , Sistema de Señalización de MAP Quinasas/fisiología , Imagen por Resonancia Magnética , Persona de Mediana Edad , Datos de Secuencia Molecular , Linaje , Radiografía , Ataxias Espinocerebelosas/patología
14.
J Couns Psychol ; 62(4): 592-607, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26053060

RESUMEN

The aim of the current study was to understand the role of race and culture in successful mentoring relationships in graduate school. We examined the practices of 9 faculty mentors working with 15 ethnic minority doctoral students in counseling and clinical psychology. Grounded theory was used to discern unifying patterns and to formulate a theory of multicultural mentoring. Five overall themes significant to multicultural mentoring emerged: (a) career support and guidance tailored for ethnic minorities, (b) relationality between mentors and protégés, (c) significance of contexts, (d) interconnections across contexts, and (e) multidirectionality of interactions between contexts. The 5 themes combined to form a multicultural, ecological, and relational model of mentoring. Our findings suggest that mentoring ethnic minority students can be successful, productive, and satisfying for both mentors and protégés when mentors possess the necessary skills, time, commitment, and multicultural competencies. Implications for doctoral programs in counseling and clinical psychology are discussed, along with recommendations for future research directions.


Asunto(s)
Diversidad Cultural , Etnicidad/psicología , Mentores/psicología , Grupos Minoritarios/psicología , Psicología Clínica/educación , Estudiantes del Área de la Salud/psicología , Adulto , Anciano , Consejo/educación , Consejo/métodos , Docentes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Psicología Clínica/métodos , Adulto Joven
15.
Alzheimers Dement ; 11(1): 16-23, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24603162

RESUMEN

BACKGROUND: We hypothesized that chronic brain changes are important substrates for incident dementia after stroke and transient ischemic attack (TIA). METHODS: We compared clinical and imaging features between patients with consecutive stroke/TIA with (n = 88) and without (n = 925) incident dementia at 3 to 6 months after a stroke/TIA. Pittsburg compound B (PiB) positron emission tomography was performed in 50 patients, including those with (n = 37) and without (n = 13) incident dementia. RESULTS: Age, history of diabetes mellitus, severity of white matter changes (WMCs), and medial temporal lobe atrophy (MTLA) were associated with incident dementia. Alzheimer's disease (AD)--like PiB retention was found in 29.7% and 7.7% (P = .032) of patients with and without incident dementia, respectively. CONCLUSIONS: Chronic brain changes including WMCs, MTLA, and AD pathology are associated with incident dementia after stroke/TIA. Interventions targeting these chronic brain changes may reduce burden of vascular cognitive impairment.


Asunto(s)
Demencia/etiología , Ataque Isquémico Transitorio/complicaciones , Tomografía de Emisión de Positrones/métodos , Accidente Cerebrovascular/complicaciones , Factores de Edad , Anciano , Anciano de 80 o más Años , Compuestos de Anilina , Biomarcadores/sangre , Encéfalo/irrigación sanguínea , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Enfermedad Crónica , Estudios de Cohortes , Estudios Transversales , Demencia/diagnóstico por imagen , Demencia/patología , Diabetes Mellitus/patología , Femenino , Humanos , Ataque Isquémico Transitorio/patología , Masculino , Persona de Mediana Edad , Neuroimagen/métodos , Radiofármacos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Accidente Cerebrovascular/patología , Lóbulo Temporal/diagnóstico por imagen , Lóbulo Temporal/patología , Tiazoles , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología
16.
Stroke ; 45(5): 1402-7, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24699055

RESUMEN

BACKGROUND AND PURPOSE: We aimed to evaluate the procedural safety, clinical, and angiographic outcome of carotid angioplasty and stenting for high-grade (≥70%) radiation-induced carotid stenosis (RIS) using atherosclerotic stenosis (AS) as a control. METHODS: In this 6-year prospective nonrandomized study, we compared the carotid angioplasty and stenting outcome of 65 consecutive patients (84 vessels) with RIS with that of a control group of 129 consecutive patients (150 vessels) with AS. Study end points were 30-day periprocedural stroke or death, ipsilateral ischemic stroke, technical success, procedural characteristics, instent restenosis (ISR; ≥50%) and symptomatic ISR. RESULTS: The median follow-up was 47.3 months (95% confidence interval, 26.9-61.6). Imaging assessment was available in 74 vessels (RIS) and 120 vessels (AS) in 2 years. Comparing RIS group with AS group, the rates of periprocedural stroke or death were 1.5% (1/65) versus 1.6% (2/129; P=1); ipsilateral ischemic stroke rates were 4.6% (3/65) versus 4.7% (6/129; P=1); the annual risks of ipsilateral ischemic stroke were 1.2% (3 patient/254.7 patient year) versus 1.2% (6 patient/494.2 patient year; P=0.89); technical success rates were both 100%. Stenting of common carotid artery and the use of multiple stents was more common in the RIS group (P=0 in both cases); ISR rates were 25.7% (19/74) versus 4.2% (5/120; P<0.001); symptomatic ISR rates were 6.8% (5/74) versus 0.8% (1/120; P=0.031). CONCLUSIONS: The safety, effectiveness, and technical difficulty of carotid angioplasty and stenting for RIS are comparable with that for AS although it is associated with a higher rate of ISR. CLINICAL TRIAL REGISTRATION: This trial was not registered as enrollment started in 2006.


Asunto(s)
Angioplastia/métodos , Enfermedades de las Arterias Carótidas/terapia , Estenosis Carotídea/terapia , Traumatismos por Radiación/etiología , Traumatismos por Radiación/terapia , Stents , Anciano , Angioplastia/efectos adversos , Angioplastia/instrumentación , Isquemia Encefálica/epidemiología , Isquemia Encefálica/etiología , Isquemia Encefálica/mortalidad , Enfermedades de las Arterias Carótidas/complicaciones , Enfermedades de las Arterias Carótidas/mortalidad , Estenosis Carotídea/etiología , Estenosis Carotídea/mortalidad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Traumatismos por Radiación/mortalidad , Índice de Severidad de la Enfermedad , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/mortalidad , Factores de Tiempo , Resultado del Tratamiento
17.
J Geriatr Psychiatry Neurol ; 27(4): 247-52, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24763069

RESUMEN

This study examined the validity and reliability of the Neuropsychiatric Inventory Questionnaire version (NPI-Q), a proxy-reported format of the interview-based NPI, in assessing neuropsychiatric symptoms in 173 patients with stroke or transient ischemic attack (TIA) having cognitive impairment. The NPI-Q was validated against the NPI as a gold standard. Informants took approximately 7 minutes to complete the NPI-Q. Bland-Altman analysis revealed a bias of 0.7 points, with 95% limits of agreement between -8.6 and 10.0 between the total symptom scores of the NPI and NPI-Q. The NPI-Q correlated significantly with the NPI in individual and total symptom scores and caregiver distress scores. In predicting presence of symptoms on the NPI, the NPI-Q yielded, on average, sensitivity of 74.1% and specificity of 79.5%. On the NPI-Q, informants tended to overreport symptoms in patients with less severe symptoms but underreport with increasing symptom severity. Internal consistency of the NPI-Q was acceptable (Cronbach's α = 0.756). One-week test-retest reliability of the NPI-Q was excellent (intraclass correlation coefficient = .990). The NPI-Q is a valid and reliable instrument for screening neuropsychiatric symptoms in patients with stroke and TIA.


Asunto(s)
Cuidadores/psicología , Disfunción Cognitiva/diagnóstico , Ataque Isquémico Transitorio/psicología , Pruebas Neuropsicológicas/normas , Accidente Cerebrovascular/psicología , Encuestas y Cuestionarios/normas , Adulto , Anciano , Anciano de 80 o más Años , Pueblo Asiatico , Cognición , Disfunción Cognitiva/complicaciones , Disfunción Cognitiva/psicología , Femenino , Humanos , Lenguaje , Masculino , Persona de Mediana Edad , Psicometría , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Traducción
18.
Hong Kong Med J ; 20(5): 455-9, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25307076

RESUMEN

Tardive dystonia is an iatrogenic complication of dopamine receptor antagonist medication such as first-generation antipsychotics. It occurs in up to 2% of patients and only 10% recover after stopping medication. Deep brain stimulation for primary dystonia has proven to be effective and its application for secondary dystonias is gaining acceptance. We report our experience in treating three ethnic Chinese schizophrenia patients with severe medically refractory tardive dystonia by globus pallidus internus deep brain stimulation. Preoperatively, all required assistance with essential activities of daily living and two were bed-bound. The mean Burke-Fahn-Marsden Dystonia Rating Scale score was 61 (range, 44-80) and mean Global Dystonia Rating Scale score was 47 (range, 40-52). No procedure-related complications were encountered. By 3 months all could return to unassisted living and walk with support with a mean of 77% and 66% improvement in the Burke-Fahn-Marsden Dystonia Rating Scale and Global Dystonia Rating Scale scores, respectively. Quality-of-life assessment performed for two patients using the EuroQol-5 dimensions visual analogue scale showed a mean improvement of 86% at 3 months. On clinical follow-up, the effect was well maintained for a period of 3 to 10 years. Pallidal deep brain stimulation is a safe and highly effective form of symptomatic treatment for patients with medically refractory tardive dystonia.


Asunto(s)
Globo Pálido , Trastornos del Movimiento/terapia , Esquizofrenia Paranoide , Adulto , Estimulación Encefálica Profunda/métodos , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/patología , Escalas de Valoración Psiquiátrica , Calidad de Vida , Índice de Severidad de la Enfermedad
19.
Hong Kong Med J ; 20(6): 474-80, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25345997

RESUMEN

OBJECTIVE: To present the result and experience of subthalamic nucleus deep brain stimulation for Parkinson's disease. DESIGN: Case series. SETTING: Prince of Wales Hospital, Hong Kong. PATIENTS: A cohort of patients with Parkinson's disease received subthalamic nucleus deep brain stimulation from September 1998 to January 2010. Patient assessment data before and after the operation were collected prospectively. RESULTS: Forty-one patients (21 male and 20 female) with Parkinson's disease underwent bilateral subthalamic nucleus deep brain stimulation and were followed up for a median interval of 12 months. For the whole group, the mean improvements of Unified Parkinson's Disease Rating Scale (UPDRS) parts II and III were 32.5% and 31.5%, respectively (P<0.001). Throughout the years, a multidisciplinary team was gradually built. The deep brain stimulation protocol evolved and was substantiated by updated patient selection criteria and outcome assessment, integrated imaging and neurophysiological targeting, refinement of surgical technique as well as the accumulation of experience in deep brain stimulation programming. Most of the structural improvement occurred before mid-2005. Patients receiving the operation before June 2005 (19 cases) and after (22 cases) were compared; the improvements in UPDRS part III were 13.2% and 55.2%, respectively (P<0.001). There were three operative complications (one lead migration, one cerebral haematoma, and one infection) in the group operated on before 2005. There was no operative mortality. CONCLUSIONS: The functional state of Parkinson's disease patients with motor disabilities refractory to best medical treatment improved significantly after subthalamic nucleus deep brain stimulation. A dedicated multidisciplinary team building, refined protocol for patient selection and assessment, improvement of targeting methods, meticulous surgical technique, and experience in programming are the key factors contributing to the improved outcome.


Asunto(s)
Estimulación Encefálica Profunda , Enfermedad de Parkinson/terapia , Núcleo Subtalámico/fisiología , Adulto , Anciano , Estudios de Cohortes , Femenino , Hong Kong , Hospitales , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias , Resultado del Tratamiento
20.
Cureus ; 16(3): e56371, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38633963

RESUMEN

In this case report, we present an unusual complication linked to a hydrogel explant in a 72-year-old male presenting to the emergency department with persistent left eye pain, redness, and discharge for one month. The patient had a history of retinal detachment in 1989, which was managed with scleral buckle surgery and gas injection. Initial examination revealed an extruding scleral buckle in the superior temporal region, along with signs of an infection. CT scans revealed a 1.9 × 1.2 × 3.8 cm abscess accompanied by preseptal cellulitis. This case report highlights the importance of how hydrogel scleral buckle explants may mimic the presentation and symptoms of an abscess as a long-term complication. Nevertheless, there have been several reports of long-term issues associated with the expansion of the hydrophilic hydrogel material. This case report further illustrates how complications linked to hydrogel explants can resemble abscess symptoms, underscoring the significance of accurate diagnosis and appropriate management.

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