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INTRODUCTION: Subtle abnormalities in the preclinical stage of Huntington's Disease (HD) can be detected using saccadic eye movement assessment reflecting disease progression. This study was aimed to evaluate abnormalities in saccade parameters in asymptomatic carriers and symptomatic HD patients at various stages of HD. MATERIAL AND METHODS: The study enrolled 104 participants, including 14 asymptomatic carriers of HTT mutations, 44 symptomatic HD patients, and 46 control subjects. HD severity was measured using the Unified Huntington's Disease Rating Scale Total Motor Score (UHDRS-TMS) and Total Functional Capacity Scale (TFC). The evaluation of rapid eye movements (reflexive saccades, anti-saccades, memory-guided saccades) was carried out using 'Saccadometer Research'. RESULTS: Measures of reflexive and volitional saccades did not differ between the asymptomatic carriers and controls. Significant latency prolongation and increased physiological variability of latency times, as well as higher error rates among HD patients, were found in all saccade tasks (p < 0.001) compared to the controls. Abnormalities in saccade parameters were more pronounced in the advanced stages of the disease. Latency of saccades and error rate of volitional saccades correlated with the UHDRS-TMS and TFC scores. CONCLUSIONS: The saccade parameters in asymptomatic HD carriers with a long time to disease development were similar to those in the control group. Saccade abnormalities appeared in symptomatic patients at the beginning of the disease, and correlated with HD severity.
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Enfermedad de Huntington , Movimientos Sacádicos , Humanos , Enfermedad de Huntington/fisiopatología , Movimientos Sacádicos/fisiología , Femenino , Masculino , Adulto , Persona de Mediana Edad , Biomarcadores , Progresión de la EnfermedadRESUMEN
Multiplex arrays designed for enzyme-linked immunosorbent assays (ELISAs) are robust and cost-effective for profiling biomarkers. Identification of relevant biomarkers in biological matrices or fluids helps in the understanding of disease pathogenesis. Here, we describe a sandwich ELISA-based multiplex assay to assess growth factor and cytokine levels in cerebrospinal fluid (CSF) samples derived from multiple sclerosis patients, amyotrophic lateral sclerosis patients, and control subjects without any neurological disorder. Results indicate that multiplex assay designed for the sandwich ELISA method is a unique, robust, and cost-effective method for profiling growth factors and cytokines present in CSF samples.
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Esclerosis Amiotrófica Lateral , Citocinas , Humanos , Citocinas/líquido cefalorraquídeo , Péptidos y Proteínas de Señalización Intercelular , Ensayo de Inmunoadsorción Enzimática/métodos , Biomarcadores/líquido cefalorraquídeoRESUMEN
BACKGROUND AND OBJECTIVES: Myasthenia gravis (MG) is an autoimmune disease characterized by dysfunction at the neuromuscular junction. Treatment frequently includes corticosteroids (CSs) and IV immunoglobulin (IVIG). This study was conducted to determine whether immune globulin (human), 10% caprylate/chromatography purified (IGIV-C) could facilitate CS dose reduction in CS-dependent patients with MG. METHODS: In this randomized double-blind placebo-controlled trial, CS-dependent patients with MG (Myasthenia Gravis Foundation of America Class II-Iva; AChR+) received a loading dose of 2 g/kg IGIV-C over 2 days (maximum 80 g/d) or placebo at week 0 (baseline). Maintenance doses (1 g/kg IGIV-C or placebo) were administered every 3 weeks through week 36. Tapering of CS was initiated at week 9 and continued through week 36 unless the patient worsened (quantitative MG score ≥4 points from baseline). CS doses were increased (based on the current CS dose) in patients who worsened. Patients were withdrawn if worsening failed to improve within 6 weeks or if a second CS increase was required. The primary efficacy end point (at week 39) was a ≥50% reduction in CS dose. Secondary and safety end points were assessed throughout the study and follow-up (weeks 42 and 45). The study results and full protocol are available at clinicaltrials.gov/ct2/show/NCT02473965. RESULTS: The primary end point (≥50% reduction in CS dose) showed no significant difference between the IGIV-C treatment (60.0% of patients) and placebo (63.3%). There were no significant differences for secondary end points. Safety data indicated that IGIV-C was well tolerated. DISCUSSION: In this study, IGIV-C was not more effective than placebo in reducing daily CS dose. These results suggest that the effects of IGIV-C and CS are not synergistic and may be mechanistically different. TRIAL REGISTRATION INFORMATION: The trial was registered on clinicaltrialsregister.eu (EudraCT #: 2013-005099-17) and clinicaltrials.gov (identifier NCT02473965). CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that IVIG infusions in adult patients with MG do not increase the percentage of patients achieving a ≥50% reduction in corticosteroid dose compared with placebo.
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Inmunoglobulinas Intravenosas , Miastenia Gravis , Adulto , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Miastenia Gravis/tratamiento farmacológico , Método Doble Ciego , Corticoesteroides/uso terapéutico , Resultado del TratamientoRESUMEN
OBJECTIVE: To investigate safety and explore efficacy of efgartigimod (ARGX-113), an anti-neonatal Fc receptor immunoglobulin G1 Fc fragment, in patients with generalized myasthenia gravis (gMG) with a history of anti-acetylcholine receptor (AChR) autoantibodies, who were on stable standard-of-care myasthenia gravis (MG) treatment. METHODS: A phase 2, exploratory, randomized, double-blind, placebo-controlled, 15-center study is described. Eligible patients were randomly assigned (1:1) to receive 4 doses over a 3-week period of either 10 mg/kg IV efgartigimod or matched placebo combined with their standard-of-care therapy. Primary endpoints were safety and tolerability. Secondary endpoints included efficacy (change from baseline to week 11 of Myasthenia Gravis Activities of Daily Living, Quantitative Myasthenia Gravis, and Myasthenia Gravis Composite disease severity scores, and of the revised 15-item Myasthenia Gravis Quality of Life scale), pharmacokinetics, pharmacodynamics, and immunogenicity. RESULTS: Of the 35 screened patients, 24 were enrolled and randomized: 12 received efgartigimod and 12 placebo. Efgartigimod was well-tolerated in all patients, with no serious or severe adverse events reported, no relevant changes in vital signs or ECG findings observed, and no difference in adverse events between efgartigimod and placebo treatment. All patients treated with efgartigimod showed a rapid decrease in total immunoglobulin G (IgG) and anti-AChR autoantibody levels, and assessment using all 4 efficacy scales consistently demonstrated that 75% showed a rapid and long-lasting disease improvement. CONCLUSIONS: Efgartigimod was safe and well-tolerated. The correlation between reduction of levels of pathogenic IgG autoantibodies and disease improvement suggests that reducing pathogenic autoantibodies with efgartigimod may offer an innovative approach to treat MG. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that efgartigimod is safe and well-tolerated in patients with gMG.
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Factores Inmunológicos/uso terapéutico , Miastenia Gravis/tratamiento farmacológico , Receptores Fc/antagonistas & inhibidores , Actividades Cotidianas , Corticoesteroides/uso terapéutico , Adulto , Anciano , Autoanticuerpos/inmunología , Inhibidores de la Colinesterasa/uso terapéutico , Método Doble Ciego , Femenino , Antígenos de Histocompatibilidad Clase I , Humanos , Fragmentos Fc de Inmunoglobulinas/uso terapéutico , Inmunosupresores/uso terapéutico , Masculino , Persona de Mediana Edad , Miastenia Gravis/inmunología , Receptores Colinérgicos/inmunología , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVE: To evaluate the effectiveness of reinforced feedback in virtual environment (RFVE) treatment combined with conventional rehabilitation (CR) in comparison with CR alone, and to study whether changes are related to stroke etiology (ie, ischemic, hemorrhagic). DESIGN: Randomized controlled trial. SETTING: Hospital facility for intensive rehabilitation. PARTICIPANTS: Patients (N=136) within 1 year from onset of a single stroke (ischemic: n=78, hemorrhagic: n=58). INTERVENTIONS: The experimental treatment was based on the combination of RFVE with CR, whereas control treatment was based on the same amount of CR. Both treatments lasted 2 hours daily, 5d/wk, for 4 weeks. MAIN OUTCOME MEASURES: Fugl-Meyer upper extremity scale (F-M UE) (primary outcome), FIM, National Institutes of Health Stroke Scale (NIHSS), and Edmonton Symptom Assessment Scale (ESAS) (secondary outcomes). Kinematic parameters of requested movements included duration (time), mean linear velocity (speed), and number of submovements (peak) (secondary outcomes). RESULTS: Patients were randomized in 2 groups (RFVE with CR: n=68, CR: n=68) and stratified by stroke etiology (ischemic or hemorrhagic). Both groups improved after treatment, but the experimental group had better results than the control group (Mann-Whitney U test) for F-M UE (P<.001), FIM (P<.001), NIHSS (P≤.014), ESAS (P≤.022), time (P<.001), speed (P<.001), and peak (P<.001). Stroke etiology did not have significant effects on patient outcomes. CONCLUSIONS: The RFVE therapy combined with CR treatment promotes better outcomes for upper limb than the same amount of CR, regardless of stroke etiology.
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Terapia por Ejercicio/métodos , Rehabilitación de Accidente Cerebrovascular/métodos , Accidente Cerebrovascular/etiología , Terapia de Exposición Mediante Realidad Virtual/métodos , Anciano , Fenómenos Biomecánicos , Enfermedad Crónica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recuperación de la Función , Método Simple Ciego , Estadísticas no Paramétricas , Accidente Cerebrovascular/fisiopatología , Resultado del Tratamiento , Extremidad Superior/fisiopatologíaRESUMEN
OBJECTIVE: There is no existing standard, evidence-based, scientific model for motor ability improvement in Huntington's Disease (HD) patients aimed at maintaining independent gait for as long as possible, or performing activities of daily living, the effectiveness of which would be supported by the results of studies using objective research tools. Under these circumstances, the aim of this study was to analyze the influence of motor ability rehabilitation on the spatial-temporal parameters of gait in HD patients. DESIGN: It was an experimental trial. The studied group consisted of 30 patients (17 women and 13 men) with HD. In hospital conditions, the patients participated in the 3-week motor ability l rehabilitation programme tailored to individual needs. The study group was tested using the Vicon 250 three-dimensional gait analysis system before and after the physical exercise programme. RESULTS: Walking speed after therapy increased for the left lower limb from 1.06 (SD 0.24) [m/s] to 1.21 (SD 0.23) [m/s], and for the right lower limb from 1.07 (SD 0.25) [m/s] to 1.20 (SD 0.25) [m/s]. The cycle length increased after the applied therapy for the left lower limb from 1.17 (SD 0.20) [m] to 1.23 (SD 0.19) [m]. CONCLUSION: The three-week motor ability rehabilitation programme positively influences spatial-temporal gait parameters in HD patients.
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Trastornos Neurológicos de la Marcha , Enfermedad de Huntington , Actividades Cotidianas , Femenino , Marcha , Trastornos Neurológicos de la Marcha/etiología , Humanos , Enfermedad de Huntington/complicaciones , Masculino , CaminataRESUMEN
OBJECTIVE: Genetic background of cryptogenic ischemic stroke (IS) and transient ischemic attack (TIA) remains uncertain. Alpha-2-antiplasmin (α2AP) Arg407Lys polymorphism has been shown to be less common in patients with abdominal aortic aneurysm (AAA) compared with healthy controls. We investigated associations of α2AP Arg407Lys polymorphism with cryptogenic IS and TIA. METHODS: We studied 165 consecutive Caucasian patients who experienced cryptogenic IS (n=123) or TIA (n=42). Neurological outcomes were assessed using the modified Rankin Scale (mRS) in the acute phase of cerebral ischemia and 8 (6-12) months after the index episode. Patients were genotyped for α2AP Arg407Lys polymorphism (rs1057335) using real time PCR technique. RESULTS: The allele frequency of Arg407Lys polymorphism was: 0.82/0.18. The 407Lys allele was more frequent in TIA patients compared to the IS group (0.29 vs. 0.14, p=0.003). In the whole group, as well as in IS and TIA patients analyzed separately, possession of the 407Lys allele was associated with excellent outcome (mRS 0-1) during follow-up (p<0.05) but not in the acute phase of ischemic events both in thrombolyzed and nonthrombolyzed IS patients. The multivariate logistic regression model showed that the excellent outcome (mRS 0-1) assessed after 8 (6-12) months since the index cerebral ischemia was predicted by the occurrence of Lys407 allele (OR 6.18, 95% CI, 2.01-18.98, p=0.001). CONCLUSION: The presence of 407Lys allele is associated with better prognosis in cryptogenic cerebrovascular events. Our findings suggest that the α2AP Arg407Lys polymorphism could be involved in the pathogenesis of cerebral ischemia and its outcomes.
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Isquemia Encefálica/genética , Accidente Cerebrovascular , alfa 2-Antiplasmina/genética , Humanos , Factores de RiesgoRESUMEN
INTRODUCTION: Parkinson disease (PD) is the common neurodegenerative disease. α-Synuclein (ASN), main aggregating protein in neural cells of CNS in PD, was found in peripheral fluids. Testing ASN in plasma is potential test for diagnose PD, but previous studies are controversial. The aim of this study was to investigate if plasma ASN level may be a valuable biomarker, is the level of plasma ASN concentration different in various motor subtypes of diseases, is there a relation between the level of plasma ASN and the severity of motor symptoms. METHODS: Patients with PD hospitalized in Neurology Department, Medical College were performed sequencing the 8th and 9th exon of GBA gene. Next plasma ASN level was tested in 58 patients with sequenced GBA gene and in 38 healthy volunteers (HV), matched by the age (respectively 68.43 vs. 64.57 years of age) and sex (female %, respectively: 43.10 vs.44.74). Patients were assessed with the scales: UPDRS (II, III, IV), Hoehn-Yahr (HY) and qualified to PIGD or TD subtype. For homogeneity of the group patients with GBA mutation were excluded from the analysis. RESULTS: The ASN level did not differ between patients and HV (respectively: 4.53 vs. 3.73ng/ml) and between patients with different subtypes. There was inverse correlation between ASN and HY in PIGD subtype. CONCLUSIONS: Plasma ASN level is not valuable marker of the disease. It does not differ in subtypes of the disease. There is relation between plasma ASN level and the severity of the disease in PIGD subtype.
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Enfermedad de Parkinson , alfa-Sinucleína , Anciano , Biomarcadores , Femenino , Humanos , Masculino , MutaciónRESUMEN
Objective: A number of studies on gait disturbances have been conducted, however, no clear pattern of gait disorders was described. The aim of the study was to characterize the gait pattern in HD patients by conducting analysis of mean angular movement changes the lower limb joints and trunk (kinematics parameters). Methods: The study group consisted of 30 patients with HD (17 women and 13 men). The reference data include the results of 30 healthy subjects (17 women and 13 men). Registration of gait with the Vicon 250 system was performed using passive markers attached to specific anthropometric points directly on the skin, based on the Golem biomechanical model (Oxford Metrics Ltd.). The research group and the control group were tested once. Results: Statistically significant (p < 0.05) angular changes in gait cycle for HD patients were observed in: insufficient plantar flexion during Loading Response and Pre-swing phases; insufficient flexion of the knee joint during Initial Swing and Mid Swing phases; excessive flexion of the hip in Terminal Stance and Pre-swing phases and over-normative forward inclination of the trunk in all gait phases. It should be noted that the group of patients with HD obtained, for all the mean angular movement changes higher standard deviation. Conclusion: A characteristic gait disorder common to all patients with HD occurring throughout the whole duration of the gait cycle is a pathological anterior tilt of the trunk. The results will significantly contribute to programming physiotherapy for people with HD, aimed at stabilizing the trunk in a position of extension during gait.
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OBJECTIVE: To assess the effects of l-dopa and deep brain stimulation of the subthalamic nucleus (DBS-STN) on saccadic eye movements in patients with Parkinson's disease (PD). METHODS: Visually and internally guided horizontal saccades were evaluated using a saccadometer in 64 patients with advanced PD and 48 healthy controls. Forty-four pharmacologically treated patients were assessed in their "med-off" (OFF) and "med-on" (ON) status, whereas 20 DBS-STN treated patients were assessed in their "med-off, stim-off" (OFF) and "med-off, stim-on" (ON) status. RESULTS: In all PD patients the saccades in the OFF status were delayed, slower and smaller (p<0.01) than in controls. In pharmacologically treated patients all studied parameters showed tendency to worsen in the ON status as compared to the OFF status. In contrast, activating DBS-STN showed tendency to improve all studied parameters. Comparison of the studied saccade parameters between the ON status of DBS-STN treated patients, ON status of the pharmacologically treated patients and the controls showed that 73% of these parameters in the DBS-STN treated patients were similar as in the controls. While in the pharmacologically treated patients only 26% of these parameters were similar as in the controls. CONCLUSION: This prospective study comparing the influence of l-dopa and DBS-STN on saccades in advanced PD showed contrasting results between these two treatments; the majority of the studied parameters in patients on DBS-STN were similar as in the controls.
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Antiparkinsonianos/uso terapéutico , Estimulación Encefálica Profunda , Levodopa/uso terapéutico , Enfermedad de Parkinson/terapia , Movimientos Sacádicos/efectos de los fármacos , Movimientos Sacádicos/fisiología , Anciano , Antiparkinsonianos/farmacología , Estimulación Encefálica Profunda/métodos , Femenino , Humanos , Levodopa/farmacología , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/fisiopatología , Estudios Prospectivos , Núcleo Subtalámico/fisiologíaRESUMEN
Apart from intention tremor essential tremor (ET) patients may display other cerebellar signs, like dysmetria or tandem gait disturbances as well as parkinsonian signs like resting tremor, cogwheel sign, subtle bradykinesia. Previous reports claimed the occurrence of the eye movement abnormalities characteristic for dysfunction of cerebellar dorsal vermis in ET patients with concomitant cerebellar signs. There are no previous reports evaluating the eye movement abnormalities in ET patients with concomitant parkinsonian signs. The objective of this study was to determine the relationship between the occurrence of parkinsonian and cerebellar signs and the oculomotor abnormalities in ET patients. METHOD: Fifty ET patients including 6 (12.0%) patients with concomitant parkinsonian signs (ET-P), 20 (40.0%) patients with cerebellar signs (ET-C), 7 (14.0%) with mixed parkinsonian and cerebellar signs (ET-M), 17 (34.0%) patients with the only tremor (ET-T) together with 42 healthy controls were included to the study. Reflexive, pace-induced and cued saccades were recorded using Saccadometer Advanced. Smooth pursuit and fixation were tested using EOG. RESULTS: Latency of pace-induced saccades was significantly longer in ET-C and ET-M patients compared to ET-T and ET-P patients. Latency of cued saccades was significantly longer in ET-M patients compared to ET-T. There were no significant differences of the eye movement parameters between ET-P patients compared to ET-T patients. CONCLUSION: In ET patient with concomitant cerebellar signs prolonged volitional saccades latency was detected. There are no particular differences in the eye movements in ET patients with concomitant parkinsonian signs compared to ET patients without concomitant signs.
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Enfermedades Cerebelosas/fisiopatología , Temblor Esencial/fisiopatología , Trastornos de la Motilidad Ocular/fisiopatología , Trastornos Parkinsonianos/fisiopatología , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Ataxia Cerebelosa/epidemiología , Ataxia Cerebelosa/fisiopatología , Enfermedades Cerebelosas/epidemiología , Temblor Esencial/epidemiología , Medidas del Movimiento Ocular , Movimientos Oculares , Femenino , Fijación Ocular/fisiología , Trastornos Neurológicos de la Marcha/epidemiología , Trastornos Neurológicos de la Marcha/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Trastornos de la Motilidad Ocular/epidemiología , Trastornos Parkinsonianos/epidemiología , Seguimiento Ocular Uniforme/fisiología , Movimientos Sacádicos/fisiologíaRESUMEN
Computational approaches for modelling the central nervous system (CNS) aim to develop theories on processes occurring in the brain that allow the transformation of all information needed for the execution of motor acts. Computational models have been proposed in several fields, to interpret not only the CNS functioning, but also its efferent behaviour. Computational model theories can provide insights into neuromuscular and brain function allowing us to reach a deeper understanding of neuroplasticity. Neuroplasticity is the process occurring in the CNS that is able to permanently change both structure and function due to interaction with the external environment. To understand such a complex process several paradigms related to motor learning and computational modeling have been put forward. These paradigms have been explained through several internal model concepts, and supported by neurophysiological and neuroimaging studies. Therefore, it has been possible to make theories about the basis of different learning paradigms according to known computational models. Here we review the computational models and motor learning paradigms used to describe the CNS and neuromuscular functions, as well as their role in the recovery process. These theories have the potential to provide a way to rigorously explain all the potential of CNS learning, providing a basis for future clinical studies.
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Simulación por Computador , Aprendizaje/fisiología , Modelos Neurológicos , Movimiento/fisiología , Plasticidad Neuronal/fisiología , Accidente Cerebrovascular/fisiopatología , Animales , HumanosRESUMEN
BACKGROUND AND PURPOSE: The aim of this study was to evaluate the prevalence of suicidal ideation among Polish patients with epilepsy and to assess the potential determinants of suicidality in this cohort. MATERIAL AND METHODS: The study comprised 301 patients with epilepsy seen in the tertiary epilepsy clinic. Patients' characteristics included demographic variables, epilepsy-related variables, as well as occurrence of comorbidities, ongoing use of any other medications, family history of epilepsy and/or depression. Beck Depression Inventory (BDI) was used to assess depressive symptoms, and question no. 9 of BDI was specifically used to reveal suicidality. RESULTS: Mean age of subjects was 35.5 years. 113 (37.5%) had frequent seizures and 96 patients (31.9%) had remission. BDI score>11 points (suggestive for depression) was found in 127 subjects. Suicidal ideation has been revealed in 30 (10.0%) out of 301 studied patients. Patients with suicidal ideation were older and more commonly reported frequent seizures. Almost all of them (93.3%) had clinically significant depressive symptoms (BDI score>11). Multivariate analysis revealed that severity of depressive symptoms (OR=1.16 per one-point increase in BDI score, 95% CI: 1.10-1.22, p<0.001) and the use of potentially depressogenic medication (OR=3.04, 95% CI: 1.04-8.89, p=0.04) were independent determinants of suicidality among studied patients. CONCLUSIONS: Suicidal ideations were revealed by about 10% of studied epileptic patients who visited tertiary center for epilepsy. Independent predictors of suicidality among studied patients included depression itself and the use of potentially depressogenic medication.
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Depresión/psicología , Trastorno Depresivo/psicología , Epilepsia/psicología , Ideación Suicida , Adulto , Antidepresivos/uso terapéutico , Comorbilidad , Depresión/tratamiento farmacológico , Depresión/epidemiología , Trastorno Depresivo/tratamiento farmacológico , Trastorno Depresivo/epidemiología , Epilepsia/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polonia/epidemiología , Factores de Riesgo , Convulsiones/epidemiología , Convulsiones/psicología , Adulto JovenRESUMEN
OBJECTIVES: The published data on the relation between arterial hypertension (AH) and hemifacial spasm (HFS) are controversial. The aim of the study was to determine the prevalence of AH in HFS patients and the relation of AH and compression of the brainstem at the region of vasomotor center. MATERIALS AND METHODS: The study included 60 of primary HFS patients and 60 healthy controls matched by age. AH was defined according to WHO criteria. The vessel compression of the brainstem was measure on MRI scans in selected region of vasomotor center located in the ventro-lateral medulla (VLM), between the pontomedullary junction, retro-olivary sulcus and the root entry zone (REZ) of the IX and X nerves. Modeling and compression severity of the VLM was graded in the 0-3 scale. RESULTS: The prevalence of AH in HFS patients did not differ significantly from the control group (61.6% vs 45.0%, p=ns). VML compression by vessel was frequently found in HFS patients with AH than without AH (97.2% vs 60.9%, χ(2)=11.0, p=0.0009). A similar relation was also found in the control group. The higher rate of VML vascular compression was related to the presence of AH in both, HFS patients and control group. CONCLUSION: The prevalence of AH in HFS patients does not differ from controls. The VLM compression in HFS patients and controls is related to AH diagnosis. The association between AH and VLM compression is stronger in patients with higher degree of VLM compression.
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Espasmo Hemifacial/etiología , Hipertensión/complicaciones , Bulbo Raquídeo , Anciano , Femenino , Espasmo Hemifacial/epidemiología , Humanos , Hipertensión/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Factores de RiesgoRESUMEN
Stiff person syndrome (SPS) is a rare autoimmune neurological disorder with antibodies against antigens involved in neurotransmission of gamma-aminobutyric acid (GABA). About 10% of patients with SPS may develop ataxia. This cerebellar variant is a distinct subset of SPS with more severe and complex clinical phenotype. We report the clinical, neuropsychological and neuroradiological findings in a 39-year-old female with cerebellar variant of SPS.
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Ataxia Cerebelosa/fisiopatología , Síndrome de la Persona Rígida/fisiopatología , Adulto , Femenino , HumanosRESUMEN
BACKGROUND: Parkinson's disease (PD) is a progressive, neurodegenerative disease which leads to postural and gait disorders, limitation in mobility, activities of daily living and disability. AIMS: The aim of the study is to assess the effects of the rehabilitation program on balance, gait, motor performance and trunk rotations in PD patients. METHODS: Sixty-four patients with 1.5-3.0 stage PD in the Hoehn and Yahr scale were randomly allocated to rehabilitation and control groups. Sixty-one patients completed the study. Patients were assessed three times, at month intervals. Between the first and second assessments, the rehabilitation group participated in a rehabilitation training program focused on mobility, balance and gait exercises, consisting of 28 sessions. Balance was assessed with tandem stance and the Pastor test (shoulder tug). Gait was assessed with a 10 m walk at preferred speed and 360° turn. Motor performance was evaluated by means of the Physical Performance Test (PPT) and timed motor activities. The trunk rotations were measured in the lumbar and thoraco-lumbar spine with a tape measure. RESULTS: The rehabilitation group significantly improved (p < 0.05) in balance and gait outcomes, PPT score, timed activities and trunk rotations both in comparison to the control group and baseline results. The positive effects of the exercise program maintained for at least 1 month. CONCLUSION: The 4-week rehabilitation training program focused on mobility, balance and gait exercises improved balance, gait, physical performance and trunk rotations in patients with PD.
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Terapia por Ejercicio/métodos , Marcha/fisiología , Enfermedad de Parkinson/rehabilitación , Equilibrio Postural/fisiología , Actividades Cotidianas , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Rotación , CaminataRESUMEN
Essential tremor (ET) is the most prevalent movement disorder, characterized mainly by an action tremor of the arms. Only a few studies published as yet have assessed oculomotor abnormalities in ET and their results are unequivocal. The aim of this study was to assess the oculomotor abnormalities in ET patients compared with the control group and to find the relationship between oculomotor abnormalities and clinical features of ET patients. We studied 50 ET patients and 42 matched by age and gender healthy controls. Saccadometer Advanced (Ober Consulting, Poland) was used to investigate reflexive, pace-induced and cued saccades and conventional electrooculography for evaluation of smooth pursuit and fixation. The severity of the tremor was assessed by the Clinical Rating Scale for Tremor. Significant differences between ET patients and controls were found for the incidence of reflexive saccades dysmetria and deficit of smooth pursuit. Reflexive saccades dysmetria was more frequent in patients in the second and third phase of ET compared to the first phase. The reflexive saccades latency increase was correlated with severity of the tremor. In conclusion, oculomotor abnormalities were significantly more common in ET patients than in healthy subjects. The most common oculomotor disturbances in ET were reflexive saccades dysmetria and slowing of smooth pursuit. The frequency of reflexive saccades dysmetria increased with progression of ET. The reflexive saccades latency increase was related to the severity of tremor.
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BACKGROUND AND PURPOSE: Huntington's disease (HD) is a neurodegenerative, progressive disorder of the central nervous system which causes significant gait and balance disturbances. This is a pilot study which aims to determine the effects of a physiotherapy programme with use of Proprioceptive Neuromuscular Facilitation (PNF) on gait and balance in HD patients. MATERIAL AND METHODS: 30 HD patients aged 21-60 with genetically confirmed diagnosis participated in the study. Participants followed a 3-week-long PNF-based physiotherapy programme. Gait and balance were evaluated twice in each participant: first at baseline and then after the course of physiotherapy. The following methods were used for gait disturbances: Tinetti Gait Assessment Tool, Up and Go Test, Timed Walking Tests for 10m and 20m (TWT10m, TWT20m). Balance was assessed with use of Berg Balance Scale, Pastor Test and Functional Reach Test. RESULTS: There was a significant improvement in all measures of balance and gait. CONCLUSION: PNF-based physiotherapy is effective and safe in HD patients.
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Marcha/fisiología , Enfermedad de Huntington/rehabilitación , Ejercicios de Estiramiento Muscular/métodos , Equilibrio Postural/fisiología , Adulto , Anciano , Prueba de Esfuerzo , Humanos , Persona de Mediana Edad , Proyectos Piloto , Resultado del Tratamiento , Adulto JovenRESUMEN
PURPOSE: The aim of this study was to assess the prevalence of depression among patients with epilepsy and to establish the risk factors of depression in that group, with special focus on the use of potentially depressogenic medications. PATIENTS AND METHODS: We studied 289 consecutive patients who visited epilepsy outpatient clinic (University Hospital of Krakow) and met inclusion criteria. All patients were screened with Beck Depression Inventory (BDI), and those with BDI score ≥12 were further evaluated by a psychiatrist. RESULTS: Mean age of patients was 35.7 years, and mean duration of epilepsy was 14.7 years. Idiopathic generalized epilepsy was diagnosed in 63 patients (21.8%), focal epilepsy was found in 189 subjects (65.4%), and unclassified epilepsy was diagnosed in 37 patients (12.8%). Frequent seizures (>1 per month) were reported in 107 patients (37.0%). Thirty-five patients (12.1%) reported an ongoing treatment with one or more of the predefined potentially depressogenic medication (ß-blockers, combined estrogen and progestogen, corticosteroid, or flunarizine). In a group of 115 patients (39.8%) who scored ≥12 points in BDI, depression was finally diagnosed in 84 subjects (29.1%) after psychiatric evaluation. Only 20 of those patients (23.8%) were treated with antidepressant. Independent variables associated with the diagnosis of depression in the logistic regression model included frequent seizures (odds ratio [OR] =2.43 [95% confidence interval, 95% CI =1.38-4.29], P=0.002), use of potentially depression-inducing medications (OR =3.33 [95% CI =1.50-7.39], P=0.003), age (OR =1.03 [95% CI =1.01-1.05] per year], P=0.005), and use of oxcarbazepine (OR =2.26 [95% CI =1.04-4.9], P=0.038). CONCLUSION: The prevalence of depression among consecutive Polish patients with epilepsy reached 29.1%. Less than quarter of them received antidepressant treatment at the moment of evaluation. Independent variables associated with depression included age, frequent seizures, and the use of oxcarbazepine or predefined depressogenic medications.
RESUMEN
OBJECTIVE: Voice abnormalities are among the symptoms occurring in patients with amyotrophic lateral sclerosis (ALS). They are divergent and range from hoarseness, through the excessive adduction of false folds, up to the weakness of the vocal folds. The aim of the study was to analyze the phonatory function of the larynx in ALS patients. METHODS: Seventeen patients with ALS were evaluated with subjective perceptual voice assessment (including the GRBAS scale), videolaryngostroboscopy including voice range and maximum phonation time (MPT), and objective acoustic voice analysis with IRIS software (including evaluation of jitter, shimmer, mean fundamental frequency, and noise-to-harmonics ratio (NHR)). Examinations were performed three times at 6-month intervals. RESULTS: Hoarseness, roughness, and breathiness of voice were all found more frequently in the majority of these patients. Voice range, amplitude of vibration, mucosal wave, and glottal closure showed significant abnormalities with repeated examinations. MPT was shortened especially among women with ALS. Acoustic analysis of voice among men showed increased jitter value in the first examination only, while jitter, shimmer, and NHR in women with ALS were increased in all examinations. CONCLUSIONS: Analysis of voice qualities among patients with ALS allows for the detection of various abnormalities associated with the natural progression of the disease.