RESUMEN
BACKGROUND AND PURPOSE: Huntington's disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterized by chorea. Dystonia is also recognized as part of the HD motor phenotype, although little work detailing its prevalence, distribution, severity and impact on functional capacity has been published to date. METHODS: Patients (>18 years of age) were recruited from the Cardiff (UK) HD clinic, each undergoing a standardized videotaped clinical examination and series of functional assessment questionnaires (Unified Huntington's Disease Rating Scale, Burke-Fahn-Marsden Dystonia Rating Scale and modified version of the Toronto Western Spasmodic Torticollis Rating Scale). The presence and severity of dystonia were scored by four independent neurologists using the Burke-Fahn-Marsden Dystonia Rating Scale and Unified Huntington's Disease Rating Scale. Statistical analysis included Fisher's exact test, Wilcoxon test, anova and calculation of correlation coefficients where appropriate. RESULTS: Forty-eight patients [91% (48/53)] demonstrated evidence of dystonia, with the highest prevalence in the left upper limb (n = 44, 83%), right upper limb most severely affected and eyes least affected. Statistically significant positive correlations (P < 0.05) were observed between dystonia severity and increasing HD disease stage and motor disease duration. Deterioration in functional capacity also correlated with increasing dystonia severity. No significant relationship was observed with age at motor symptom onset or CAG repeat length. CONCLUSIONS: We report a high prevalence of dystonia in adult patients with HD, with worsening dystonia severity with increasing HD disease stage and motor disease duration. The recognition and management of dystonic symptoms in routine clinical practice will aid overall symptomatic treatment and functional improvement.
Asunto(s)
Distonía/fisiopatología , Enfermedad de Huntington/fisiopatología , Actividades Cotidianas , Adulto , Edad de Inicio , Anciano , Estudios de Cohortes , Progresión de la Enfermedad , Femenino , Lateralidad Funcional , Humanos , Proteína Huntingtina/genética , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Fenotipo , Expansión de Repetición de Trinucleótido , Extremidad Superior/fisiopatología , Grabación en Video , Adulto JovenAsunto(s)
Linfocitos B/fisiología , Factores Inmunológicos/uso terapéutico , Esclerosis Múltiple/terapia , Adolescente , Adulto , Alemtuzumab/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Estudios de Cohortes , Evaluación de la Discapacidad , Femenino , Humanos , Interferón beta-1a/uso terapéutico , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/diagnóstico por imagen , Adulto JovenRESUMEN
Diagnosis can prove challenging when a patient with a chronic neurological disease presents with acute deterioration. This is especially true in Huntington's disease, where cognitive impairment is prominent. We present a case of hypercalcaemia causing an acute deterioration in physical and cognitive function in a patient with Huntington's disease. Similarity in clinical phenotype between hypercalcaemia and Huntington's disease, as well as failure to appreciate the acute nature of the deterioration resulted in diagnostic delay and prolonged admission. With treatment, the patient improved dramatically. The case highlights key learning points regarding assessment of patients with chronic neurological disease.
Asunto(s)
Diagnóstico Tardío , Enfermedad de Huntington/complicaciones , Hipercalcemia/diagnóstico , Hiperparatiroidismo Primario/diagnóstico , Adulto , Calcio/sangre , Diagnóstico Diferencial , Femenino , Humanos , Hipercalcemia/etiología , Hiperparatiroidismo Primario/complicacionesAsunto(s)
Complejo SIDA Demencia/epidemiología , Infecciones Oportunistas Relacionadas con el SIDA/tratamiento farmacológico , Síndrome de Inmunodeficiencia Adquirida/tratamiento farmacológico , Fármacos Anti-VIH/farmacocinética , Antirretrovirales/administración & dosificación , Terapia Antirretroviral Altamente Activa/métodos , Sistema Nervioso Central/metabolismo , Meningitis Criptocócica/tratamiento farmacológico , Femenino , Humanos , MasculinoAsunto(s)
Cuerpo Estriado/metabolismo , Modelos Animales de Enfermedad , Complejo II de Transporte de Electrones/metabolismo , Glutatión Peroxidasa/metabolismo , Enfermedad de Huntington/genética , Enfermedad de Huntington/metabolismo , Enfermedad de Huntington/prevención & control , Enfermedad de Huntington/fisiopatología , Mitocondrias/metabolismo , Proteínas Mitocondriales/genética , Proteínas Mitocondriales/metabolismo , Proteínas del Tejido Nervioso/genética , Proteínas del Tejido Nervioso/metabolismo , Fenotipo , Expansión de Repetición de Trinucleótido/genética , Animales , Femenino , Humanos , MasculinoRESUMEN
Ethical dilemmas are commonplace in clinical cardiology. There has been a recent focus on ethical behaviour of cardiologists and debate about resource allocation and cost-effectiveness of new technologies. The case of an intravenous drug addict, with native aortic valve endocarditis complicated by a cerebral abscess and severe aortic regurgitation, is presented to illustrate some common ethical and moral dilemmas. The predominant theories in medical ethics, including the "Four-Principles Approach," is discussed, and a model to translate these ethical theories into a clinical decision-making tool is presented.
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Endocarditis Bacteriana/cirugía , Teoría Ética , Implantación de Prótesis de Válvulas Cardíacas/ética , Abuso de Sustancias por Vía Intravenosa/complicaciones , Insuficiencia de la Válvula Aórtica/cirugía , Absceso Encefálico/complicaciones , Cardiología/ética , Toma de Decisiones , Humanos , Masculino , Infecciones Estafilocócicas/cirugía , Cirugía Torácica/ética , Adulto JovenRESUMEN
Despite the fact that the use of SI units should standardize the reporting of results in chemical pathology, there is still considerable confusion in some areas about the accepted conventions. This confusion is particularly rife in reporting results of thyroxine, and, to a lesser extent, of lipid assays.