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BACKGROUND: Gait disorders in patients with Parkinson's disease (PD) can become disabling with disease progression without effective treatment. OBJECTIVES: To investigate the efficacy of intermittent θ burst trans-spinal magnetic stimulation (TsMS) in PD patients with gait and balance disorders. METHODS: This was a randomized, parallel, double-blind, controlled trial. Active or sham TsMS was applied at third thoracic vertebra with 100% of the trans-spinal motor threshold, during 5 consecutive days. Participants were evaluated at baseline, immediately after last session, 1 and 4 weeks after last session. Primary outcome was Total Timed Up and Go (TUG) values comparing active versus sham phases 1 week after intervention. The secondary outcome measurements consisted of motor, gait and balance scales, and questionnaires for quality of life and cognition. RESULTS: Thirty-three patients were included, average age 68.5 (6.4) years in active group and 70.3 (6.3) years in sham group. In active group, Total TUG mean baseline was 107.18 (95% CI, 52.1-116.1), and 1 week after stimulation was 93.0 (95% CI, 50.7-135.3); sham group, Total TUG mean baseline was 101.2 (95% CI, 47.1-155.3) and 1 week after stimulation 75.2 (95% CI 34.0-116.4), P = 0.54. Similarly, intervention had no significant effects on secondary outcome measurements. During stimulation period, five patients presented with mild side effects (three in active group and two in sham group). DISCUSSION: TsMS did not significantly improve gait or balance analysis in patients with PD and gait disorders. The protocol was safe and well tolerated. © 2024 International Parkinson and Movement Disorder Society.
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Transtornos Neurológicos da Marcha , Doença de Parkinson , Humanos , Doença de Parkinson/complicações , Doença de Parkinson/terapia , Doença de Parkinson/fisiopatologia , Masculino , Feminino , Idoso , Pessoa de Meia-Idade , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/terapia , Transtornos Neurológicos da Marcha/fisiopatologia , Método Duplo-Cego , Equilíbrio Postural/fisiologia , Resultado do Tratamento , Qualidade de Vida , Estimulação da Medula Espinal/métodos , Estimulação Magnética Transcraniana/métodos , Marcha/fisiologia , Magnetoterapia/métodosRESUMO
OBJECTIVE: Individuals with Dravet syndrome (DS) exhibit progressive gait disturbance. No quantitative studies have been conducted to evaluate the effectiveness of medication for gait disturbance. Therefore, the aim of this study was to evaluate the effectiveness of levodopa for pathological gait in people with DS using three-dimensional gait analysis (3DGA). METHODS: Nine individuals with DS, ages 6-20 years, participated in a crossover study of levodopa and were randomly assigned to the levodopa precedence or no levodopa precedence group. Levodopa/carbidopa hydrate was prescribed at a dose of 5 mg/kg/day (body weight <60 kg) or 300 mg/day (body weight ≥60 kg). The medication was taken for 4-6 weeks (4-week washout period). 3DGA was performed three times before the study, with and without levodopa. A mixed-effects model was used to evaluate the effectiveness of levodopa. The primary outcome was the change in the Gait Deviation Index (GDI). In addition, spatiotemporal gait parameters, 6-minute walking distance (6MD), and balance were evaluated. The correlation between the effectiveness of levodopa and age or gait performance before starting levodopa was analyzed. RESULTS: Levodopa improved the GDI by 4.2 points, (p = .029), 6MD by 52 m (p = .002), and balance test result by 4.1 mm (p = .011) in participants with DS. No severe adverse events were observed, with the exception of one participant, who exhibited fever and consequently stopped taking levodopa. Levodopa was more effective in younger participants with a higher baseline gait performance. SIGNIFICANCE: Our randomized crossover trial showed that levodopa has the potential to improve gait disturbance in people with DS.
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Estudos Cross-Over , Epilepsias Mioclônicas , Transtornos Neurológicos da Marcha , Levodopa , Humanos , Levodopa/uso terapêutico , Masculino , Feminino , Adolescente , Adulto Jovem , Criança , Transtornos Neurológicos da Marcha/tratamento farmacológico , Transtornos Neurológicos da Marcha/etiologia , Epilepsias Mioclônicas/tratamento farmacológico , Análise da Marcha , Resultado do Tratamento , Carbidopa/uso terapêutico , Marcha/efeitos dos fármacos , Combinação de MedicamentosRESUMO
We report on a patient with delayed post-hypoxic leukoencephalopathy (DPHL) who showed akinetic mutism and gait disturbance, neural injuries that were demonstrated on diffusion tensor tractography (DTT). A patient was exposed to carbon monoxide (CO) and rapidly recovered; however, two weeks after onset, he began to show cognitive impairment and gait disturbance. At six weeks after CO exposure, he showed akinetic mutism and gait inability. DTT at 6-weeks post-exposure showed discontinuations in neural connectivities of the caudate nucleus to the medial prefrontal and orbitofrontal cortex in both hemispheres. In addition, the corticoreticulospinal tract revealed severe thinning in both hemispheres.
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Afasia Acinética , Imagem de Tensor de Difusão , Transtornos Neurológicos da Marcha , Leucoencefalopatias , Humanos , Afasia Acinética/etiologia , Afasia Acinética/fisiopatologia , Masculino , Leucoencefalopatias/etiologia , Leucoencefalopatias/fisiopatologia , Leucoencefalopatias/complicações , Leucoencefalopatias/diagnóstico por imagem , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Hipóxia Encefálica/complicações , Hipóxia Encefálica/diagnóstico por imagem , Pessoa de Meia-Idade , AdultoRESUMO
PURPOSE: The purpose of the present study was to investigate the association between quantitatively assessed trunk extensor strength and gait-induced back pain (GIBP) in patients with adult spinal deformity (ASD). METHODS: Ninety-five patients with ASD aged ≥ 50 years who were admitted to our hospital between April 2018 and March 2023 were included in the study. GIBP was evaluated through a 6-minute walking test (6MWT), with GIBP being defined as the occurrence of back pain during the evaluation and inability to complete the test. The patients were divided into three groups: difficulty completing the 6MWT (Group 1), ability to complete the 6MWT with breaks (Group 2), and ability to complete the 6MWT without taking a break (Group 3). The main independent variable was trunk extensor strength, which was measured using a hand-held dynamometer. Ordered logistic regression analysis was conducted to assess the association between GIBP and trunk extensor strength while adjusting for basic characteristics and radiographic parameters as covariates. RESULTS: The numbers of patients with ASD included in each group were; 27 in Group 1 (28.4%), 31 in Group 2 (32.6%), and 37 in Group 3 (39.0%). An ordered logistic regression analysis adjusted for basic characteristics and radiographic parameters, trunk extensor strength was significantly associated with GIBP (odds ratios, 1.128; 95% confidence intervals, 1.025-1.242). CONCLUSIONS: The results of the present study strongly indicate that trunk extensor strength is a valuable factor associated with GIBP in patients with ASD.
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Dor nas Costas , Marcha , Força Muscular , Humanos , Masculino , Feminino , Idoso , Estudos Transversais , Pessoa de Meia-Idade , Força Muscular/fisiologia , Dor nas Costas/fisiopatologia , Dor nas Costas/etiologia , Marcha/fisiologia , Tronco/fisiopatologia , Curvaturas da Coluna Vertebral/fisiopatologia , Idoso de 80 Anos ou maisRESUMO
OBJECTIVE: Dural arteriovenous fistulas are rare vascular malformations that affect the brain and spinal cord. Spinal dural arteriovenous fistulas (sdAVFs) are the most frequently encountered vascular malformation affecting the spinal cord. The object of this study was to evaluate the impact of treatment delays on the long-term neurological outcomes of either open surgical or interventional treatment of sdAVFs. METHODS: In this retrospective, population-based cohort study, the authors examined consecutive patients with diagnosed sdAVFs at a tertiary care center between 2005 and 2020. Patients were assessed using the Aminoff-Logue disability scale (ALS) at various time points including symptom onset, primary care visit, first specialist outpatient visit, as well as both short and long-term follow-ups. The postoperative long-term ALS gait and bladder grades constituted the primary outcomes of the study. RESULTS: Among the 34 patients included in the study, the median age was 65 years, and there was a male predominance (71%). Most lesions were in the lumbar region (47%). Significant worsening in ALS gait and bladder grades was observed preoperatively, followed by postoperative improvements (p < 0.05). There was no difference in outcomes between surgical and endovascular treatments. Older age (OR 1.10, 95% CI 1.03-1.17, p = 0.007), worse preoperative ALS gait grades (OR 5.12, 95% CI 2.18-12.4, p < 0.001), and longer time from first specialist outpatient visit to first treatment (OR 1.00, 95% CI 1.00-1.01, p = 0.040) were independently associated with worse long-term gait outcomes. Only the preoperative ALS bladder score was a predictor of worse long-term bladder function (OR 92.7, 95% CI 28.0-306.7, p < 0.001). CONCLUSIONS: Both surgical and endovascular treatments for sdAVFs led to significant neurological improvements. However, treatment delays were associated with less favorable long-term outcomes. Prompt diagnosis and early intervention prior to symptom progression may enhance recovery and help to preserve neurological function.
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Malformações Vasculares do Sistema Nervoso Central , Atraso no Tratamento , Humanos , Masculino , Idoso , Feminino , Estudos de Coortes , Estudos Longitudinais , Estudos Retrospectivos , Malformações Vasculares do Sistema Nervoso Central/complicações , Malformações Vasculares do Sistema Nervoso Central/cirurgiaRESUMO
Multiple sclerosis (MS) causes gait and cognitive impairments that are partially normalized by compensatory mechanisms. We aimed to identify the gait tasks that unmask gait disturbance and the underlying neural correlates in MS. We included 25 patients with MS (Expanded Disability Status Scale score: median 2.0, interquartile range 1.0-2.5) and 19 healthy controls. Fast-paced gait examinations with inertial measurement units were conducted, including straight or circular walking with or without cognitive/motor tasks, and the timed up and go test (TUG). Receiver operating characteristic curve analysis was performed to distinguish both groups by the gait parameters. The correlation between gait parameters and cortical thickness or fractional anisotropy values was examined by using three-dimensional T1-weighted imaging and diffusion tensor imaging, respectively (corrected p < .05). Total TUG duration (>6.0 s, sensitivity 88.0%, specificity 84.2%) and stride velocity during cognitive dual-task circular walking (<1.12 m/s, 84.0%, 84.2%) had the highest discriminative power of the two groups. Deterioration of these gait parameters was correlated with thinner cortical thickness in regional areas, including the left precuneus and left temporoparietal junction, overlapped with parts of the default mode network, ventral attention network, and frontoparietal network. Total TUG duration was negatively correlated with fractional anisotropy values in the deep cerebral white matter areas. Turning and multitask gait may be optimal to unveil partially compensated gait disturbance in patients with mild-to-moderate MS through dynamic balance control and multitask processing, based on the structural damage in functional networks.
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Esclerose Múltipla , Humanos , Esclerose Múltipla/complicações , Esclerose Múltipla/diagnóstico por imagem , Imagem de Tensor de Difusão , Equilíbrio Postural , Afinamento Cortical Cerebral , Estudos de Tempo e Movimento , Marcha , CaminhadaRESUMO
BACKGROUND: Works of art may serve as a source of evidence of diseases and help to better understand their natural history. SUMMARY: Bernardino da Fossa was a 15th-century Italian Franciscan friar who wrote sermons and historical works. He described the events of the Observance Reformation movement since its dawn, but the last chapter is unexplainably interrupted. This has been considered suggestive for an acute and disabling illness. A painting dating back 12 years after his death depicts Bernardino holding a crutch with his left arm. This may represent an important clue to establish a gait disturbance, whereas the permanent interruption in drafting his writing may be ascribed to a serious writing impairment. KEY MESSAGES: The historical detail of the writing suspension and the crutch in this painting represent important hints of the stroke suffered by Bernardino da Fossa.
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Monges , Pinturas , Acidente Vascular Cerebral , Masculino , Humanos , Acidente Vascular Cerebral/história , Pinturas/história , Braço , MarchaRESUMO
PURPOSE: The aim was to evaluate the total diagnostic interval (TDI) and presenting complaints in children with brain tumours in Serbia. METHODS: This study retrospectively analysed 212 children aged 0-18 years newly diagnosed with brain tumours in two tertiary centres from mid-March 2015 to mid-March 2020 covering virtually all children with brain tumours in Serbia. TDI was calculated as the difference between the date of diagnosis and the date of symptom onset presented as a median in weeks. This variable has been evaluable for 184 patients. RESULTS: Overall TDI was 6 weeks. TDI was significantly longer in patients with low-grade tumours (11 weeks) than in patients with high-grade tumours (4 weeks). Children with the most frequent complaints (headache, nausea/vomiting and gait disturbance) were more likely to be diagnosed sooner. Patients with a single complaint had significantly longer TDI (12.5 weeks) contrasted to patients with multiple complaints (5 weeks). CONCLUSION: TDI with a median of 6 weeks is similar to other developed countries. Our study supports the view that low-grade tumours will present later than high-grade tumours. Children with the commonest complaints and children with multiple complaints were more likely to be diagnosed sooner.
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Neoplasias Encefálicas , Criança , Humanos , Estudos Retrospectivos , Sérvia/epidemiologia , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/epidemiologia , Neoplasias Encefálicas/patologia , Vômito , CefaleiaRESUMO
[Purpose] The purpose of this study was to identify the optimal visual cues for gait disturbance in patients with Parkinson's disease based on the luminous duration and the individual patient preferences for a wearable visual cue device. [Participants and Methods] Twenty-four patients with Parkinson's disease walked while wearing only a visual cue device in the control condition. They then walked while the device was set to two stimulus conditions: the luminous duration at 10% and 50% of the individual gait cycle. After walking under the two stimulus conditions, the patients were asked for their preferred visual cue condition. The walking results were compared between the two stimulus conditions and the control condition. Gait parameters were compared among the three conditions. The comparisons with preference, non-preference, and control conditions were also made for the same gait parameter. [Results] When compared to the control condition, walking with visual cues in the stimulus conditions reduced stride duration and increased cadence. The preference and non-preference conditions had shorter stride durations than the control condition. Furthermore, the preference condition also resulted in a faster gait speed than the non-preference condition. [Conclusion] This study suggests that a wearable visual cue device with the patient's preferred luminous duration may help manage gait disturbance in patients with Parkinson's disease.
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BACKGROUND AND PURPOSE: Orthostatic tremor and spinal cord melanoma are rare entities and seem unlikely to be associated. Herein, we report a patient diagnosed with orthostatic tremor secondary to primary malignant melanoma of the spinal cord. CASE PRESENTATION: We report the case of a 67-year-old man who experienced tremor when he was standing, which disappeared when he was sitting or walking. He also reported gait disturbance and cognitive dysfunction. Electromyography revealed a regular and symmetric high-frequency tremor in the lower extremities. The patient was admitted to a hospital several times and was diagnosed with primary orthostatic tremor and later hydrocephalus; thus, he received a ventriculoperitoneal shunt. Finally, he showed symptoms of the presence of melanoma in the spinal cord, which was supported by spinal cord magnetic resonance imaging findings. Primary malignant melanoma of the spinal cord was confirmed postoperatively. CONCLUSIONS: Orthostatic tremor is a rare entity that can be characterized by specific high-frequency tremors when the subject is standing. Considering that it remains unknown why this condition appears, some possible associations, such as primary spinal cord melanoma, should be considered. Thus, a comprehensive assessment of these types of patients is required. Our case report may facilitate the understanding of the pathophysiology and clinical symptoms of this disease.
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Melanoma , Neoplasias Cutâneas , Idoso , Eletromiografia , Humanos , Masculino , Melanoma/complicações , Medula Espinal , TremorRESUMO
OBJECTIVES: To clarify a characteristic of dynamic stability during gait in idiopathic normal pressure hydrocephalus (iNPH) and Parkinson's disease (PD), and to explore the association between dynamic stability and disease severity in each disease. MATERIALS AND METHODS: The 5-m gait of 36 iNPH (precerebrospinal fluid drainage), 20 PD (medicated state), and 25 healthy controls (HC) were evaluated using three-dimensional motion analysis. Ambulatory dynamic stability was defined as the ability to maintain the extrapolated center of mass within the base of support at heel contact, with the distance between the two referred to as the margin of stability (MOS). RESULTS: Anteroposterior direction (AP) MOS was significantly larger in the iNPH and PD groups than in the HC group; no significant difference was found between the iNPH and PD groups. Mediolateral direction (ML) MOS was significantly larger in the iNPH and PD groups than in the HC group and significantly larger in the iNPH group than in the PD group. In the iNPH group, the disease severity was positively correlated with only ML MOS. In the PD group, the disease severity was positively correlated with the AP MOS and ML MOS. CONCLUSIONS: Dynamic stability in iNPH increases in AP and ML, and it may be associated with not only iNPH-associated gait disturbance but also with a voluntarily cautious gait strategy. Dynamic stability in PD only increased in AP, and this may be associated with PD symptoms. These findings will help physicians understand the difference in pathological gait including dynamic stability between patients with iNPH and PD.
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Transtornos Neurológicos da Marcha , Hidrocefalia de Pressão Normal , Doença de Parkinson , Marcha , Transtornos Neurológicos da Marcha/etiologia , Humanos , Hidrocefalia de Pressão Normal/complicações , Doença de Parkinson/complicações , Índice de Gravidade de DoençaRESUMO
Pediatric gait disorders are often chronic and accompanied by various complications, which challenge rehabilitation efforts. Here, we retrospectively analyzed the feasibility of overground robot-assisted gait training (RAGT) using a joint-torque-assisting wearable exoskeletal robot. In this study, 17 children with spastic cerebral palsy, cerebellar ataxia, and chronic traumatic brain injury received RAGT sessions. The Gross Motor Function Measure (GMFM), 6-min walk test (6 MWT), and 10-m walk test (10 MWT) were performed before and after intervention. The oxygen rate difference between resting and training was performed to evaluate the intensity of training in randomly selected sessions, while the Quebec User Evaluation of Satisfaction with assistive Technology 2.0 assessment was performed to evaluate its acceptability. A total of four of five items in the GMFM, gait speed on the 10 MWT, and total distance on the 6 MWT showed statistically significant improvement (p < 0.05). The oxygen rate was significantly higher during the training versus resting state. Altogether, six out of eight domains showed satisfaction scores more than four out of five points. In conclusion, overground training using a joint-torque-assisting wearable exoskeletal robot showed improvement in gross motor and gait functions after the intervention, induced intensive gait training, and achieved high satisfaction scores in children with static brain injury.
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Lesões Encefálicas , Robótica , Dispositivos Eletrônicos Vestíveis , Criança , Estudos de Viabilidade , Marcha , Humanos , Oxigênio , Estudos Retrospectivos , TorqueRESUMO
BACKGROUND: Ambulatory and balance functions are important for maintaining general health in humans. Gait analysis allows clinicians and researchers to identify the parameters to be focused on when assessing balance and ambulatory functions. In this study, we performed gait analysis with pressure sensors to identify the gait-analysis parameters related to balance and ambulatory functions in hemiplegic stroke patients. METHODS: We retrospectively reviewed the medical records of 102 patients with hemiplegic stroke who underwent gait analysis. Correlations between various temporospatial parameters in the gait analysis and the motor and balance functions assessed using functional ambulation category, modified Barthel index, and Berg balance scale were analyzed. RESULTS: Gait speed/height and the lower-limb stance-phase time/height were the only temporal and spatial parameters, respectively, that showed a statistical correlation with motor and balance functions. CONCLUSIONS: Measurements of walking speed and stance-phase time of the unaffected lower limb can allow clinicians to easily assess the ambulatory and balance functions of hemiplegic stroke patients. Rehabilitative treatment focusing on increasing gait speed and shortening the stance-phase time of the unaffected side may improve the ambulatory and balance functions in these patients.
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Análise da Marcha/estatística & dados numéricos , Hemiplegia/fisiopatologia , Equilíbrio Postural/fisiologia , Acidente Vascular Cerebral/fisiopatologia , Caminhada/fisiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Hemiplegia/complicações , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Pessoa de Meia-Idade , Modalidades de Fisioterapia , Estudos Retrospectivos , Acidente Vascular Cerebral/complicações , Adulto JovemRESUMO
OBJECTIVES: We evaluated the perceived and actual changes in gait and balance function immediately after cerebrospinal fluid (CSF) shunting in patients with idiopathic normal pressure hydrocephalus (iNPH), including those with mild cases. MATERIALS AND METHODS: Ninety-nine iNPH patients were assessed using the timed Up and Go (TUG) and Functional Gait Assessment (FGA) before and 1-week after CSF shunting and their perceived changes were assessed on a Global Rate of Change (GRC) scale. Minimal clinically important differences (MCIDs) were calculated using a receiver operating characteristic (ROC) curve method using GRC scores. RESULTS: In all patients (n = 99), the TUG value postoperatively was significantly faster than the preoperative value (difference; 3.1 ± 4.6 s, p < 0.001), and the postoperative FGA score was significantly better than the preoperative score (difference; 3.8 ± 3.3 points, p < 0.001). In the TUG <15 s group (n = 51), the postoperative FGA score was significantly improved (difference; 3.3 ± 2.9 points, p < 0.001), whereas the TUG value was only slightly improved (difference; 0.6 ± 1.6 s, p = 0.008). The ROC curve MCIDs of GRC ≥2 points, which is the recommended level of improvement, were 1.7 s (16.5%) for the TUG and 4 points (20.0%) for the FGA in all patients (n = 99) and the TUG <15 s group (n = 51). CONCLUSIONS: FGA can be used to confirm treatment effects, including perceived and actual changes after CSF shunting, in patients with mild iNPH. Our results can help clinicians to determine the clinical significance of improvements in gait and balance function immediately after CSF shunting in individual patients with iNPH.
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Derivações do Líquido Cefalorraquidiano/tendências , Transtornos Neurológicos da Marcha/cirurgia , Marcha/fisiologia , Hidrocefalia de Pressão Normal/cirurgia , Percepção/fisiologia , Equilíbrio Postural/fisiologia , Idoso , Idoso de 80 Anos ou mais , Derivações do Líquido Cefalorraquidiano/métodos , Feminino , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Hidrocefalia de Pressão Normal/diagnóstico , Hidrocefalia de Pressão Normal/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
External cues improve walking by evoking internal rhythm formation related to gait in the brain in patients with Parkinson's disease (PD). This study examined the usefulness of using a portable gait rhythmogram (PGR) in music therapy on PD-related gait disturbance. A total of 19 subjects with PD who exhibited gait disturbance were evaluated for gait speed and step length during a 10 m straight walking task. Moreover, acceleration, cadence, and trajectory of the center of the body were estimated using a PGR. Walking tasks were created while incorporating music intervention that gradually increased in tempo from 90 to 120 beats per minute (BPM). We then evaluated whether immediate improvement in gait could be recognized even without music after walking tasks by comparing pre- (pre-MT) and post-music therapy (post-MT) values. Post-MT gait showed significant improvement in acceleration, gait speed, cadence, and step length. During transitions throughout the walking tasks, acceleration, gait speed, cadence, and step length gradually increased in tasks with music. With regard to the trajectory of the center of the body, we recognized a reduction in post-MT medio-lateral amplitude. Music therapy immediately improved gait disturbance in patients with PD, and the effectiveness was objectively shown using PGR.
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Transtornos Neurológicos da Marcha , Musicoterapia , Música , Doença de Parkinson , Marcha , Transtornos Neurológicos da Marcha/terapia , Humanos , Doença de Parkinson/terapia , CaminhadaRESUMO
WHAT IS KNOWN AND OBJECTIVE: Perampanel, an anticonvulsant, might induce psychological reactions. CASE DESCRIPTION: A 70-year-old woman, who had been taking 2500 mg/day levetiracetam, complained of right-hand minor-convulsion. Perampanel of 2 mg/day was additionally prescribed, and the dosage was increased to 4 mg/day. Two weeks after taking 4 mg/day perampanel, she changed her personality and kept insulting her husband; however, the patient herself was aware of her strange behaviour. She regained her normal personality after quitting the perampanel medication. WHAT IS NEW AND CONCLUSION: This self-awareness is crucial to distinguish the perampanel-induced reaction from psychosis.
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Anticonvulsivantes/efeitos adversos , Psicoses Induzidas por Substâncias/etiologia , Piridonas/efeitos adversos , Idoso , Feminino , Humanos , NitrilasRESUMO
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disease caused by mutations in the colony stimulating factor 1 receptor (CSF1R) gene that often results in cognitive impairment, psychiatric disorders, motor dysfunction and seizure. We report familial cases of a novel CSF1R mutation causing HDLS similar to hydrocephalus. The patients initially presented with a gait disturbance and then developed progressive cognitive decline, urinary incontinence, epileptic seizures and became bedridden as the disease progressed. A brain magnetic resonance imaging (MRI) scan revealed striking ventricular enlargement and diffuse brain atrophy with frontotemporal predominance, which was later accompanied by white matter changes. Genetic testing in this family showed a novel c.2552T>C (p.L851P) mutation in exon 19 of the CSF1R gene. However, three gene carriers in the family remained clinically asymptomatic. Because of its heterogeneous clinical phenotypes, HDLS patients are often misdiagnosed with other diseases. This is the first genetically proven HDLS case resembling hydrocephalus, and the clinical symptoms of HDLS may be related to the specific genetic mutation.
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Hidrocefalia/genética , Leucoencefalopatias/genética , Mutação , Receptores de Fator Estimulador das Colônias de Granulócitos e Macrófagos/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Atrofia , Axônios , Encéfalo/patologia , Transtornos Cognitivos/complicações , Erros de Diagnóstico , Progressão da Doença , Éxons , Feminino , Transtornos Neurológicos da Marcha/complicações , Heterozigoto , Humanos , Hidrocefalia/diagnóstico por imagem , Leucoencefalopatias/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Convulsões/complicações , Análise de Sequência de DNA , Substância Branca/diagnóstico por imagemRESUMO
BACKGROUND: Lameness in dairy cows has been an ongoing concern of great relevance to animal welfare and productivity in modern dairy production. Many studies have examined associations between various factors related to housing, management, and the individual animal and the occurrence of lameness. The objective of this systematic review was to answer the research question "what are risk factors associated with lameness in dairy cows that are housed in free stall barns or tie stall facilities". Furthermore, we performed a synthesis of current evidence on certain risk factors by means of a meta-analysis to illustrate the strength of their association with bovine lameness. RESULTS: Following pre-defined procedures and inclusion criteria in accordance with the PRISMA statement, two observers independently included 53 articles out of a pool of 1941 articles which had been retrieved by a broad literature research in a first step. 128 factors that have been associated with lameness were identified in those papers. Meta-analyses were conducted for five factors presented in six different studies: Body condition score, presence of claw overgrowth, days in milk, herd size, and parity. Results indicated that a body condition score of ≤2.5/5 is associated with increased odds of lameness. A higher risk of being lame was found for the presence of claw overgrowth, the first 120 days in milk, larger herd sizes, and increasing parity. Throughout the study, we encountered profound difficulties in retrieving data and information of sufficient quality from primary articles as well as in recovering comparable studies. CONCLUSIONS: We learned that an abundance of literature on bovine lameness exists. To adequately address a problem of this importance to both animal welfare and economic viability, solid evidence is required in the future to develop effective intervention strategies. Therefore, a consistent working definition of lameness and specific risk factors should be an option to consider.
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Doenças dos Bovinos/epidemiologia , Coxeadura Animal/epidemiologia , Animais , Composição Corporal , Bovinos , Indústria de Laticínios/métodos , Feminino , Casco e Garras , Lactação , Paridade , Fatores de RiscoRESUMO
OBJECTIVES: We identified intermittent gait disturbance (IGD) observed in the mild stage of idiopathic normal pressure hydrocephalus (iNPH). The first purpose of this study was to clarify the temporal gait profile of IGD during long-distance gait. The second purpose was to confirm the difference in treatment effect after cerebrospinal fluid (CSF) shunting in patients with and without IGD. MATERIALS AND METHODS: Fourteen consecutive iNPH patients with mild gait disturbance with a timed up-and-go (TUG) of <20 seconds were prospectively enrolled in the study. All patients were asked "Do you experience gait difficulty after over five minutes of walking?" Seven "yes" patients formed the IGD group, and seven "no" patients formed the persistent gait disturbance (PGD) group. One day before and 7 days after CSF shunting, gait function was evaluated by the 6-minute walk test (6MWT) and TUG. RESULTS: Preoperatively, all patients in the IGD group demonstrated features of IGD during the 6MWT, characterized by a progressive pattern of decreased gait speed and step length with increased cadence and absence of leg pain. Post-operatively, these features of IGD improved in all patients. In the PGD group, preoperative walking did not significantly worsen during the 6MWT and did not significantly change 7 days after treatment. Improvement of gait symptoms 1 week after CSF shunting could be detected with 6MWT instead of TUG. CONCLUSIONS: Intermittent gait disturbance is not a rare symptom in mild stage of iNPH and may serve as an important clinical diagnostic marker for identifying mild iNPH patients.
Assuntos
Transtornos Neurológicos da Marcha/etiologia , Hidrocefalia de Pressão Normal/complicações , Hidrocefalia de Pressão Normal/cirurgia , Idoso , Idoso de 80 Anos ou mais , Derivações do Líquido Cefalorraquidiano , Feminino , Humanos , MasculinoRESUMO
OBJECTIVES: The cerebrospinal fluid tap test for idiopathic normal pressure hydrocephalus (iNPH) is one of the good predictors of the shunt treatment, although this test has a low sensitivity. We aimed to identify key parameters that could be used to improve this sensitivity. MATERIALS & METHODS: During 2010-2011, we recruited and then followed 93 patients with possible iNPH for 12 months after shunt. Among them, 82 patients were finally enrolled in this study. The modified Rankin Scale, iNPH grading scale, and several quantitative measurements were evaluated at entry, after the tap test, before and after shunt. Area under the receiver-operating characteristic curves (AUCs), sensitivities, and specificities of the tap test for predicting shunt effectiveness were calculated for each measurement. They were additionally assessed after stratification by disease duration since the initial presentation of iNPH symptoms. RESULTS: The gait disturbance on the iNPH grading scale had the highest accurate scale at the tap test for predicting effectiveness 12 months after shunt: AUC 0.74, sensitivity 56.5%, specificity 91.7%. This AUC increased to 0.76, 0.91 and 0.94 in the subgroup of disease duration <24, <12, and <6 months, respectively. The sensitivity and specificity of the gait disturbance on the iNPH grading scale in the subgroup of <12 months' duration were 92.3% and 90.0%. CONCLUSIONS: The shorter period of clinical symptoms, for example, <12 months, made the tap test sufficiently accurate examination for predicting improvement 12 months after shunt surgery. The findings imply that the tap test should be applied to patients being considered for shunt surgery as soon as possible.