RESUMEN
OBJECTIVE: The purpose of this study was to examine the effectiveness, satisfaction, and acceptance of a low-cost Lombard-response (LR) device in a group of individuals with Parkinson's disease (IWPD) and their communication partners (CPs). METHOD: Sixteen IWPD and hypophonia and their CPs participated in the study. The IWPD wore a LR device that included a small MP3 player (Sony Walkman) and headphones playing a multi-talker noise audio file at 80 dB during lab-based speech tasks and during their daily conversational speech over a 2-week device trial period. Outcome measures included average conversational speech intensity and scores on a questionnaire related to speech impairment, communication effectiveness, and device satisfaction. RESULTS: Conversational speech intensity of the IWPD is increased by 7 to 10 dB with the LR device. Following a 2-week trial period, eight of the IWPD (50%) gave the LR device moderate-to-high satisfaction and effectiveness ratings and decided to purchase the device for long-term daily use. At the 4-month follow-up, none of the IWPDs were still using the LR device. Device rejection was related to discomfort (loudness), headaches, interference with cognition, and difficulty controlling device. CONCLUSION: Short-term acceptance and satisfaction with the LR device was moderate, but long-term acceptance, beyond 4 months, was absent. Future studies are required to determine if other types of low-cost LR devices can be developed that improve long-term efficacy and device acceptance in IWPD and hypophonia.
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Enfermedad de Parkinson , Comunicación , Cefalea , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/terapia , Habla , Trastornos del HablaAsunto(s)
Corea/inmunología , Hidrolasas/inmunología , Linfoma de Células B Grandes Difuso/complicaciones , Proteínas Asociadas a Microtúbulos/inmunología , Síndromes Paraneoplásicos del Sistema Nervioso/inmunología , Anciano , Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Autoantígenos/inmunología , Humanos , MasculinoRESUMEN
BACKGROUND: There is a significant need for a targeted therapy for essential tremor (ET), as medications have not been developed specifically for ET, and the ones prescribed are often not well-tolerated, so that many patients remain untreated. Recent work has shown that, unlike previous experience, kinematically guided individualized botulinum toxin type A (BoNT-A) injections provide benefit along with minimal weakness. Ours is the first long-term (96-week) safety and efficacy study of BoNT-A as monotherapy for ET using kinematically driven injection parameters. METHODS: Ten ET patients were administered six serial BoNT-A treatments every 16 weeks and were assessed at 6 weeks following treatment. During each study visit, the Fahn-Tolosa-Marin (FTM) scale, the Unified Parkinson's Disease Rating Scale, and the Quality of Life for Essential Tremor Questionnaire (QUEST) were administered along with kinematic assessment of the treated limb. Participants performed scripted tasks with motion sensors placed over each arm joint. Dosing patterns were determined using the movement disorder neurologist's interpretation of muscles contributing to the kinematically analyzed upper limb tremor biomechanics. RESULTS: There was a 33.8% (p<0.05) functional improvement (FTM part C) and a 39.8% (p<0.0005) improvement in QUEST score at week 96 compared to pretreatment scores at week 0. Although there was a 44.6% (p<0.0005) non-dose-dependent reduction in maximal grip strength, only 2 participants complained of mild weakness. Following the fourth serial treatment, mean action tremor score was reduced by 62.9% (p=0.001) in the treated and by 44.4% (p=0.03) in the untreated arm at week 96 compared to week 48. CONCLUSIONS: Individualized BoNT-A dosing patterns to each individual's tremor biomechanics provided an effective monotherapy for ET as function improved without functionally limiting muscle weakness.
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Toxinas Botulínicas Tipo A/uso terapéutico , Temblor Esencial/tratamiento farmacológico , Temblor Esencial/patología , Fármacos Neuromusculares/uso terapéutico , Extremidad Superior/fisiopatología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Fenómenos Biomecánicos , Relación Dosis-Respuesta a Droga , Electromiografía , Temblor Esencial/psicología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Desempeño Psicomotor/efectos de los fármacos , Calidad de Vida/psicología , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Adulto JovenAsunto(s)
Antígenos de Neoplasias/inmunología , Encefalitis/complicaciones , Enfermedad de Hodgkin/genética , Proteínas del Tejido Nervioso/inmunología , Síndromes Paraneoplásicos del Sistema Nervioso/genética , Encefalitis/diagnóstico , Encefalitis/genética , Enfermedad de Hodgkin/complicaciones , Enfermedad de Hodgkin/inmunología , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/diagnóstico , Síndromes Paraneoplásicos del Sistema Nervioso/complicacionesAsunto(s)
Anticonvulsivantes/uso terapéutico , Terapia Cognitivo-Conductual , Agonistas de Dopamina/uso terapéutico , Terapia por Ejercicio , Síndrome de las Piernas Inquietas/terapia , Anemia/epidemiología , Cafeína/efectos adversos , Depresores del Sistema Nervioso Central/efectos adversos , Estimulantes del Sistema Nervioso Central/efectos adversos , Progresión de la Enfermedad , Etanol/efectos adversos , Humanos , Insuficiencia Renal Crónica/epidemiología , Síndrome de las Piernas Inquietas/inducido químicamente , Síndrome de las Piernas Inquietas/epidemiología , Higiene del SueñoAsunto(s)
Trastornos de los Cromosomas/complicaciones , Trastornos del Movimiento/etiología , Deleción Cromosómica , Trastornos de los Cromosomas/diagnóstico por imagen , Cromosomas Humanos Par 18 , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico por imagenRESUMEN
BACKGROUND: Hereditary hemochromatosis (HH) is a genetic disorder causing pathological iron deposition and functional impairment of various organs, predominantly the liver. We assessed patients with HH for the presence of movement disorders. METHODS: We reviewed the charts of 616 patients with HH who attended hemochromatosis clinic at London Health Sciences Centre, London, ON, Canada, from 1988 to 2015. RESULTS: We found three HH patients with movement disorders, without any other major systemic manifestation. One had parkinsonism, another had chorea, and the third had tremor. All three patients had evidence of iron deposition in the brain, affecting the basal ganglia in the first two, and the dentate nucleus, red nucleus, and substantia nigra in the third patient. In addition to the C282Y homozygous mutation in the HFE gene, two of our patients had non-HFE gene mutations. CONCLUSION: HH should be considered in the differential diagnosis of movement disorders with pathological brain iron deposition. We report for the first time chorea in a patient with HH. Non-HFE gene mutations may predispose HH patients to iron deposition in the brain.
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Hemocromatosis/complicaciones , Trastornos del Movimiento/complicaciones , Anciano , Cuerpo Estriado/diagnóstico por imagen , Femenino , Hemocromatosis/diagnóstico por imagen , Hemocromatosis/genética , Proteína de la Hemocromatosis/genética , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico por imagen , Mutación/genética , Ontario , Estudios Retrospectivos , Sustancia Negra/diagnóstico por imagenRESUMEN
Background Recent studies have strongly indicated the benefits of endovascular therapy for acute ischemic stroke, but what remains a continued debate is the role for general anaesthesia versus conscious sedation (CS) for such procedures. Retrospective studies have found poorer neurological outcomes in patients who underwent general anesthesia (GA); however, some have revealed worse baseline stroke severity in these patients. Methods This study is a retrospective cohort study aimed at comparing mortality and morbidity of GA versus CS in patients treated with endovascular intervention in acute ischemic stroke. Chi-square and t-test analyses were used. Results Patients in the GA (n=42) group were more likely to be deceased than those in the CS (n=67) group at hospital discharge, 3 months, and 6 months poststroke onset. Morbidity, as defined by modified Rankin Score, was significantly greater in the GA group at hospital discharge, and a similar trend was seen in morbidity at 3 months postdischarge. Conclusion General anesthesia for endovascular intervention in acute ischemic stroke was associated with increased mortality and poorer neurological incomes compared with conscious sedation. In our study, age, gender, history of hypertension, history of diabetes, and baseline National Institute of Health Stroke Scale were not significantly different between the groups. Although the need for a randomized, prospective study on this topic is clear, our study represents further corroboration of the safety and efficacy of conscious sedation in these procedures.
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Anestesia General/métodos , Sedación Consciente/métodos , Procedimientos Endovasculares/métodos , Accidente Cerebrovascular/cirugía , Resultado del Tratamiento , Isquemia Encefálica/complicaciones , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Estadísticas no Paramétricas , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/mortalidad , Factores de TiempoAsunto(s)
Trastornos Cerebrovasculares/complicaciones , Enfermedades del Nervio Facial/complicaciones , Espasmo Hemifacial/etiología , Puente/patología , Adulto , Femenino , Espasmo Hemifacial/diagnóstico por imagen , Espasmo Hemifacial/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Cirugía para Descompresión Microvascular/métodosAsunto(s)
Antiparkinsonianos/uso terapéutico , Carbidopa/uso terapéutico , Estimulación Encefálica Profunda/métodos , Discinesias/terapia , Levodopa/uso terapéutico , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/terapia , Edad de Inicio , Combinación de Medicamentos , Humanos , Esperanza de Vida , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/epidemiología , Guías de Práctica Clínica como Asunto , Medición de RiesgoRESUMEN
BACKGROUND: Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. METHODS: A literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF. RESULTS: There have been nine reported mutations worldwide in the FTL1 gene in 90 patients, the most common mutation being 460InsA. Chorea and dystonia are the most common presenting symptoms in NF. There are specific features, which appear to depend upon the genetic mutation. We discuss the occurrence of specific mutations in various regions along with their associated presenting phenomenology. We have compared and contrasted the commonly occurring syndromes in the differential diagnosis of NF to guide the clinician. DISCUSSION: NF must be considered in patients presenting clinically as a progressive movement disorder with variable phenotype and imaging evidence of iron deposition within the brain, decreased serum ferritin, and negative genetic testing for other more common movement disorders such as Huntington's disease. In the absence of a disease-specific treatment, symptomatic drug therapy for specific movement disorders may be used, although with variable success.
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Neoplasias de los Nervios Craneales/patología , Neurilemoma/patología , Nervio Vago/patología , Adulto , Neoplasias de los Nervios Craneales/complicaciones , Neoplasias de los Nervios Craneales/diagnóstico por imagen , Neoplasias de los Nervios Craneales/cirugía , Humanos , Hemorragias Intracraneales/diagnóstico por imagen , Hemorragias Intracraneales/etiología , Imagen por Resonancia Magnética , Masculino , Neurilemoma/complicaciones , Neurilemoma/diagnóstico por imagen , Neurilemoma/cirugía , Neurología/educación , Radiografía , Insuficiencia Respiratoria/etiología , Nervio Vago/diagnóstico por imagen , Nervio Vago/cirugíaRESUMEN
We present a unique case of isolated bilateral simultaneous cranial nerve (CN) IV palsy in a patient with neuromyelitis optica (NMO). Although some CN IV abnormalities have been described in multiple sclerosis (MS), no case of isolated bilateral simultaneous CN IV has been reported, to our knowledge, in either NMO or MS.
RESUMEN
PURPOSE: The purpose of this study was to describe a series of patients with pathologically proven chronic encephalitis who had a nonprogressive course during a long follow-up, suggestive of a "benign" variant of Rasmussen's encephalitis (RE). METHODS: Four patients who were referred to our Comprehensive Epilepsy Program at London Health Science Centre in London, Ontario, were diagnosed with chronic encephalitis on a pathological basis after epilepsy surgery to treat their partial-onset seizures. RESULTS: None of our four cases followed the typical course of RE despite their childhood-onset seizures between ages 2 and 12years. One was preceded by a mild head trauma and fever at onset. None had epilepsia partialis continua (EPC). Their long-term follow-up revealed a nonprogressive form of the syndrome with respect to the neurological examination, EEG, MRI, and neuropsychological findings. CONCLUSION: These cases extend the spectrum of childhood-onset intractable epilepsy with chronic encephalitis to include nonprogressive variants of RE. The absence of EPC may be a prognostic indicator of a nonprogressive course.
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Encefalitis/complicaciones , Epilepsia/diagnóstico , Epilepsia/etiología , Adulto , Edad de Inicio , Electroencefalografía , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Pruebas NeuropsicológicasRESUMEN
A 63-year-old woman presented with 24 hours of dysarthria, confusion, and appendicular ataxia preceded by watery diarrhea, without fever, nausea, vomiting, meningeal signs, recent travel, or antibiotic use. She had type II diabetes and gastroesophageal reflux disease (on proton pump inhibitor). She had consumed inadequately cooked beef stew left at room temperature for 24 hours. Blood cultures were positive for Salmonella typhimurium. CSF showed 15 nucleated cells, 72% monocytoid; remainder of CSF was normal. MRI was consistent with cerebellitis (figure). At 3 months, after 3 weeks of IV ceftriaxone, she remained dysarthric with bilateral dysmetria.
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Enfermedades Cerebelosas/diagnóstico , Enfermedades Cerebelosas/microbiología , Intoxicación Alimentaria por Salmonella/diagnóstico , Salmonella typhimurium/aislamiento & purificación , Enfermedad Aguda , Enfermedades Cerebelosas/etiología , Femenino , Humanos , Persona de Mediana Edad , Intoxicación Alimentaria por Salmonella/complicacionesRESUMEN
We report a 14-month old child with multiple episodes of febrile status epilepticus, followed by chorea and developmental regression, caused by human herpes virus-6 encephalitis. Chorea has been described as a complication of relapsing herpes simplex virus I infection, but not as a manifestation of human herpes virus-6 infection. It is uncertain whether the chorea was an autoimmune phenomenon or a direct effect of the virus. The child was treated with levetiracetam, intravenous immunoglobulin, and foscarnet. The seizures and chorea resolved with treatment, but developmental regression, with loss of language skills, persisted 6 months after the illness. This child illustrates a new clinical presentation of human herpes virus-6 encephalitis, adds to the spectrum of disorders caused by this virus, and strengthens the case for routine identification of specific viral agents in all cases of childhood viral infections with central nervous system symptoms to determine optimal treatment and prognosis.
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Corea/virología , Encefalitis Viral/etiología , Herpesvirus Humano 6/aislamiento & purificación , Infecciones por Roseolovirus/complicaciones , Convulsiones/virología , Femenino , Humanos , LactanteRESUMEN
BACKGROUND: Intravascular lymphoma (IVL) is a rare subtype of large-cell non-Hodgkin lymphoma, characterized by proliferation of lymphoma cells within the lumina of small vessels. There are no previously reported cases of IVL involving the pituitary gland presenting with neuro-ophthalmic findings. METHODS: A 68-year-old female presented with headache, right third nerve palsy, and Horner syndrome. MRI showed a 1.4-cm sellar mass consistent with a pituitary macroadenoma. Two weeks later, despite treatment with dexamethasone, the patient developed complete bilateral ophthalmoplegia and ptosis. Repeat MRI showed invasion of the clivus and cavernous sinuses, and a transsphenoidal pituitary biopsy was undertaken. RESULTS: The preliminary histopathology was consistent with bland pituitary apoplexy, but subsequent examination of an incidentally biopsied nasal polyp revealed endovascular malignant lymphoid cells that, on further scrutiny, were also present in the pituitary tissue. The diagnosis of IVL was confirmed, and the patient had an excellent clinical and radiological response to cyclophosphamide, doxorubicin, vincristine, prednisolone, and rituximab (CHOP-R) chemotherapy. CONCLUSION: IVL may involve the pituitary gland, causing sellar mass effect, cavernous sinus infiltration, and pituitary ischemia, mimicking pituitary apoplexy with neuro-ophthalmic features. It can be effectively treated with CHOP-R chemotherapy.