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1.
J Neural Transm (Vienna) ; 130(12): 1537-1545, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37612469

RESUMO

The mechanisms underlying motor fluctuations in patients with Parkinson's disease (PD) are currently unclear. Regional brain stimulation reported the changing of motor symptoms, but the correlation with functional connectivity (FC) in the brain network is not fully understood. Hence, our study aimed to explore the relationship between motor symptom severity and FC using resting-state functional magnetic resonance imaging (rsfMRI) in the "on" and "off" states of PD. In 26 patients with sporadic PD, FC was assessed using rsfMRI, and clinical severity was analyzed using the motor part of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS Part III) in the on and off states. Correlations between FC values and MDS-UPDRS Part III scores were assessed using Pearson's correlation coefficient. The correlation between FC and motor symptoms differed in the on and off states. FC between the ipsilateral precentral gyrus (PreCG) and globus pallidus (GP) correlated with the total MDS-UPDRS Part III scores and those for bradykinesia/rigidity in the off state. Lateralization analysis indicated that FC between the PreCG and GP correlated with the contralateral total MDS-UPDRS Part III scores and those for bradykinesia/rigidity in the off state. Aberrant FC in cortico-striatal circuits correlated with the severity of motor symptoms in PD. Cortico-striatal hyperconnectivity, particularly in motor pathways involving PreCG and GP, is related to motor impairments in PD. These findings may facilitate our understanding of the mechanisms underlying motor symptoms in PD and aid in developing treatment strategies such as brain stimulation for motor impairment.


Assuntos
Córtex Motor , Doença de Parkinson , Humanos , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/tratamento farmacológico , Globo Pálido/diagnóstico por imagem , Córtex Motor/diagnóstico por imagem , Hipocinesia/diagnóstico por imagem , Hipocinesia/etiologia , Imageamento por Ressonância Magnética/métodos
2.
World J Surg Oncol ; 21(1): 336, 2023 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-37880760

RESUMO

BACKGROUND: Older patients are more likely to have comorbidities than younger patients, and multiple comorbidities are associated with mortality in patients with cancer. Therefore, we hypothesized that a functional comorbidity index could predict the therapeutic effects of rehabilitation. OBJECTIVES: In this study, we investigate whether the comorbidities influenced the execution and therapeutic effects of rehabilitation. METHODS: A consecutive cohort of 48 patients with gastrointestinal cancer who underwent surgery between January 1 and November 30, 2020, was analyzed. Charlson Comorbidity Index (CCI) scores were calculated based on data derived from medical records. The primary outcomes were ambulation status, duration (days) from the start of postoperative rehabilitation, and length of hospital stay. We investigated the relationship between CCI scores and primary outcomes. RESULTS: The CCI did not correlate with the duration of rehabilitation or the length of hospital stay. Subsequently, patients with functional recovery problems were evaluated, and we identified the conditions that were not included in the list using CCI scores. Most conditions are associated with surgical complications. Furthermore, using the Clavien-Dindo classification (CDC), we assessed the clinical features of the severity of complications. We found that the length of stay and the duration to start rehabilitation were significantly longer in the patients with higher severity of surgical complications (CDC≧III) than in those with lower severity (CDC≦II). CONCLUSIONS: Treatment-related conditions may significantly impact the perioperative period more than the original comorbidities. In addition to original comorbidities, events related to surgical complications should be assessed to determine the therapeutic effects of rehabilitation in patients with gastrointestinal cancer.


Assuntos
Neoplasias Gastrointestinais , Complicações Pós-Operatórias , Humanos , Estudos Retrospectivos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Comorbidade , Neoplasias Gastrointestinais/cirurgia , Recuperação de Função Fisiológica , Tempo de Internação
3.
J Phys Ther Sci ; 35(9): 673-677, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37670765

RESUMO

[Purpose] Respiratory physiotherapy plays an important role in the management of acute respiratory disturbance; however, chest pain often impedes patients from performing respiratory physiotherapy. In this study, we investigated whether pain due to multiple rib fractures can be managed with intermittent serratus anterior fascia plane (SAP) block. [Participants and Methods] We performed intermittent SAP blocks in three consecutive patients with pain due to multiple rib fractures based on the level of pain. The level of pain and differences in expiratory/inspiratory chest expansion were evaluated before and after performing the SAP block. [Results] All three patients reported an improvement in the severity of pain and increase in the thoracic range of motion after receiving the SAP block. No adverse events associated with intermittent SAP blocks were observed in any of the patients. [Conclusion] We report the cases of three patients who completed respiratory physiotherapy after receiving intermittent SAP blocks for the management of pain due to multiple rib fractures. SAP blocks are associated with a low risk of complications as the ribs are not punctured while performing SAP blocks.

4.
J Phys Ther Sci ; 35(5): 395-398, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37131352

RESUMO

[Purpose] We describe a new method of functional electrical stimulation therapy for severe hemiparesis. Conventional functional electrical stimulation of the lower legs has limited applications. It is only suitable for patients who can monitor their muscle contractions, and it has complicated equipment installation procedures. [Participant and Methods] The participant was a male in his 40s with severe motor paralysis following brain surgery. We monitored the participant's healthy side using the external assist mode of an Integrated Volitional Control Electrical Stimulation (IVES® OG Giken, Okayama, Japan) system while forcibly contracting the paralyzed side. The participant received this new functional electrical stimulation therapy five times per week. [Results] Two weeks after initiation of therapy, paralysis was noticeably improved, and motor function was maintained for approximately 1 year. [Conclusion] The outcomes of this case suggest that the addition of forced contraction therapy, mirror therapy, and repetitive exercise therapy to regular physical therapy may be beneficial. This treatment method may also be useful in postoperative patients with central motor palsy and no muscle contraction ability.

5.
Eur Neurol ; 85(5): 404-409, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35483334

RESUMO

Visual dysfunction is an important nonmotor symptom of Parkinson's disease (PD). Visual hallucinations (VHs) and visuospatial dysfunctions (VSDs) are common visual dysfunctions in PD; however, the underlying mechanisms remain unclear. Our study aimed to evaluate neuronal synchronization between patients with PD with and without VH or VSD using electroencephalographic (EEG) coherence analysis. Twenty-four patients with sporadic PD were evaluated for the presence of VH and VSD, and were divided into VH-negative and VH-positive groups, and these groups were further subdivided by VSD status. Coherence analysis was performed on EEG data. Whole-brain and regional coherences were calculated and compared between the groups. There was a significant difference in frontal-frontal coherence between the VH+ VSD- and VH+ VSD+ groups (p = 0.026). Our findings suggest that reduced EEG coherence in frontal regions might be involved in VSD in patients with PD. Reduced neuronal synchronization between the frontal lobes may contribute to the disruption of visual processing in PD.


Assuntos
Doença de Parkinson , Encéfalo , Eletroencefalografia , Lobo Frontal , Alucinações/etiologia , Humanos , Doença de Parkinson/diagnóstico
6.
J Phys Ther Sci ; 34(8): 602-605, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35937625

RESUMO

[Purpose] Intensive training can at least partially improve finger movement dysfunction observed after stroke or any neurodegenerative disease. Wearable equipment can significantly improve patients' quality of life. However, long-term use of conventional training gloves containing metal can injure joints. In this study, we investigated the safety and efficacy of a novel, metal-free, wearable strength-building device. [Participants and Methods] We enrolled 20 healthy participants in whom we measured grip and pinch strength before and while the equipment was worn. Additionally, we investigated the adverse effects and discomfort experienced while participants wore the equipment. [Results] The grip strength was reduced by approximately 20% while participants wore the equipment. We did not observe any serious adverse events. [Conclusion] The knitting equipment described in this study resists movements associated with gripping the hand and acts on all fingers, and may be useful for rehabilitation to improve finger function during routine activities.

7.
J Phys Ther Sci ; 34(6): 473-477, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35698557

RESUMO

[Purpose] This study aimed to evaluate the improvement in lower extremity hemiplegia following brain tumor operation with an integrated volitional control electrical stimulator (IVES). [Participant and Methods] A 40 year-old male with anaplasic oligodendroglioma in the right frontal lobe underwent IVES in the rectus femoris and tibialis anterior muscles using the power-assist and sensor-trigger modes. Lower extremity motor function was assessed before and after the therapy sessions. An assessment was conducted using various techniques, including static posturography and surface electromyography. [Results] Static posturography showed an improvement in the center of pressure and sway area after IVES gait training. Based on a time-series statistical parametric mapping analysis, the activation pattern of each muscle after the treatment was different. Muscle synergy analysis revealed decreased total variance accounted for by a single synergy in the affected and normal sides after the treatment. [Conclusion] Patients with chronic hemiplegic lower extremity impairment responded well to IVES gait training. Electromyography-triggered functional electrical stimulation may enhance sensory-motor integration. Proprioceptive feedback plays a crucial role in improving motor control.

8.
BMC Neurol ; 21(1): 397, 2021 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-34641815

RESUMO

BACKGROUND: Hypereosinophilia (HE) is caused by various conditions, including solid and hematologic tumors. Nonetheless, there exist no reports on cerebral infarctions caused by HE associated with lung cancer metastasis to the bone marrow. CASE PRESENTATION: We report a case of a 67-year-old man with multiple cerebral infarctions associated with HE. His white blood cell and eosinophil counts were 38,900/µL and 13,600/µL, respectively, at 4 weeks before admission. During treatment for HE, he presented with dysarthria and walking difficulties. Magnetic resonance imaging of the brain showed multiple small infarcts in regions such as the bilateral cortex, watershed area, and cerebellum. Chest computed tomography showed small nodes in the lung and enlargement of the left hilar lymph nodes. Bronchoscopic biopsy did not reveal a tumor; however, bone marrow biopsy showed infiltration of tumor cells. We considered a diagnosis of lung cancer metastasizing to the bone marrow, which induced HE and later caused cerebral infarctions. CONCLUSIONS: This case report demonstrates that metastatic cancer in the bone marrow can induce HE, which can consequently cause multiple cerebral infarctions. Clinicians should consider HE as a cause of multiple cerebral infarctions in patients with cancer.


Assuntos
Neoplasias Pulmonares , Idoso , Encéfalo , Infarto Cerebral/complicações , Infarto Cerebral/diagnóstico por imagem , Humanos , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios X
9.
Support Care Cancer ; 29(4): 2015-2020, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32844315

RESUMO

PURPOSE: Cancer rehabilitation addresses the functional needs of patients who have various impairments. Disease control is a critical oncological consideration, while physical intervention increased weights of importance in several situations. To identify the clinical status that necessitates active physical intervention in cancer patients with skeletal metastasis, we performed a content analysis in the multidisciplinary tumor board (MDTB) records. METHODS: From January 2017 to September 2019, the MDTB discussed 168 consecutive patients with skeletal metastasis. We reviewed the MDTB records and asked responsible physicians to frame clinical questions. Based on these data, we identified the predictor valuables with the association to rehabilitation-related clinical questions using univariate and multivariate analyses. Moreover, we investigated a predictor of the change in Barthel index (BI) scores using univariate analyses. RESULTS: Rehabilitation-related questions arose more frequently in older patients (p = 0.011), in patients with slow-growth vs. rapid-growth tumor (p = 0.002), and in patients with skeletal-related events (p = 0.001) at MDTB. The tumor growth speed was associated with the change in BI scores, as slower-growth tumors had the benefit of BI gains (p = 0.017). CONCLUSIONS: Regarding rehabilitation in patients with skeletal metastasis, we should pay attention to three parameters: occurrence of skeletal events, patient age, and growth speed of tumors. Rehabilitation-related questions may reflect patients' functional needs that occur more frequently in patients with pathological fractures or neurological symptoms, older patients, and patients with slow-growth tumors.


Assuntos
Neoplasias Musculares/secundário , Neoplasias/reabilitação , Feminino , Humanos , Masculino , Metástase Neoplásica
10.
BMC Neurol ; 16(1): 201, 2016 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-27765018

RESUMO

BACKGROUND: Hereditary sensory and autonomic neuropathy (HSAN) type II with WNK1/HSN2 gene mutation is a rare disease characterized by early-onset demyelination sensory loss and skin ulceration. To the best of our knowledge, no cases of an autonomic disorder have been reported clearly in a patient with WNK/HSN2 gene mutation and only one case of a Japanese patient with the WNK/HSN2 gene mutation of HSAN type II was previously reported. CASE PRESENTATION: Here we describe a 54-year-old woman who had an early childhood onset of insensitivity to pain; superficial, vibration, and proprioception sensation disturbances; and several symptoms of autonomic failure (e.g., orthostatic hypotension, fluctuation in body temperature, and lack of urge to defecate). Genetic analyses revealed compound homozygous mutations in the WNK1/HSN2 gene (c.3237_3238insT; p.Asp1080fsX1). The patient demonstrated sensory loss in the "stocking and glove distribution" but could perceive visceral pain, such as menstrual or gastroenteritis pain. She experienced frequent fainting episodes. She had undergone exenteration of the left metatarsal because of metatarsal osteomyelitis at 18 years. Sural nerve biopsy revealed a severe loss of myelinated and unmyelinated nerves. She complained of severe pain in multiple joints, even on having pain impairment. Although non-steroidal anti-inflammatory drugs are generally more effective than acetaminophen for arthritis, in our case, they were ineffective and acetaminophen (2400 mg/day) adequately controlled her pain and improved quality of life. Over 3 months, the numerical rating scale, pain interference scale of the Brief Pain Inventory, and the Pain Catastrophizing Scale decreased from 6/10 to 3/10, from 52/70 to 20/70, and from 22/52 to 3/52 points, respectively. CONCLUSIONS: This is the second reported case of a Japanese patient with WNK/HSN2 gene mutation of HSAN type II and the first reported case of an autonomic disorder in a patient with the WNK/HSN2 gene mutation. Acetaminophen adequately controlled arthropathy related pain in a patient with congenital impairment of pain sensation.


Assuntos
Artralgia/fisiopatologia , Neuropatias Hereditárias Sensoriais e Autônomas/fisiopatologia , Peptídeos e Proteínas de Sinalização Intracelular/genética , Antígenos de Histocompatibilidade Menor/genética , Proteínas Serina-Treonina Quinases/genética , Transtornos Somatoformes/fisiopatologia , Feminino , Neuropatias Hereditárias Sensoriais e Autônomas/complicações , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Humanos , Japão , Pessoa de Meia-Idade , Transtornos Somatoformes/etiologia , Transtornos Somatoformes/genética , Proteína Quinase 1 Deficiente de Lisina WNK
11.
Eur Neurol ; 74(5-6): 251-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26624487

RESUMO

BACKGROUND: Dysphagia due to bulbar involvement is a major symptom of patients with spinal and bulbar muscular atrophy (SBMA). The aim of this pilot study was to test the efficacy and safety of the head lift exercise for swallowing dysfunction in SBMA. METHODS: We enrolled 6 subjects with genetically confirmed SBMA and instructed them to perform the head lift exercise for 6 weeks. The efficacy outcome measures were the changes from baseline in tongue pressure, the scores of swallowing functional questionnaires, and the motor functional scales and parameters of videofluorography (VF). RESULTS: All subjects completed the study and no major adverse effects were recorded. Tongue pressure significantly increased by 19.2 ± 0.15% (p < 0.05) after the 6-week head lift exercise. The scores for oral dysphagia also improved, although there was no significant change in VF parameters or other variables examined pre- and post-exercise. CONCLUSION: Our findings suggested that the head lift exercise may improve swallowing dysfunction, particularly tongue pressure, in SBMA.


Assuntos
Transtornos de Deglutição/terapia , Terapia por Exercício/métodos , Atrofia Muscular Espinal/terapia , Transtornos Musculares Atróficos/terapia , Adulto , Idoso , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Projetos Piloto
12.
Neuropathol Appl Neurobiol ; 40(5): 628-39, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23617879

RESUMO

AIMS: Spinocerebellar ataxia type 3 (SCA3) is an inherited spinocerebellar ataxia caused by the expansion of trinucleotide CAG repeats in the gene encoding ataxin-3. The clinical manifestations of SCA3 include peripheral neuropathy, which is an important cause of disability in a subset of patients. Although the loss of neurones in the dorsal root ganglion (DRG) has been postulated to be the cause of this neuropathy, the precise mechanism remains to be elucidated. METHODS: To clarify the clinicopathological characteristics of SCA3-associated peripheral neuropathy, we performed nerve conduction studies and histopathological analyses. Nerve conduction studies were carried out in 18 SCA3 patients. Immunohistochemical analyses of the anterior and posterior roots of the spinal cord and peripheral nerves were performed in five SCA3 patients. We also employed immunohistochemistry and immunoelectron microscopy analyses with an anti-polyglutamine antibody. RESULTS: The mean sensory nerve action potentials of the SCA3 patients were half of the normal values. The motor conduction velocities were decreased, and the distal latencies were also significantly prolonged in the nerves studied relative to the those in normal controls. Histopathological analyses detected axonal sprouting and myelin thinning in all cases. Ataxin-3 aggregates were found in the cytoplasm of Schwann cells in all of the SCA3 patients examined but not in control subjects. CONCLUSIONS: In addition to the previously reported neuronopathy, the results of the present study indicate that Schwann cells are involved in the formation of the pathogenic intracytoplasmic ataxin-3 protein aggregates in patients with SCA3-associated neuropathy.


Assuntos
Doença de Machado-Joseph/patologia , Doença de Machado-Joseph/fisiopatologia , Doenças do Sistema Nervoso Periférico/patologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Células de Schwann/patologia , Adulto , Idoso , Ataxina-3 , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/metabolismo , Proteínas Nucleares/metabolismo , Proteínas Repressoras/metabolismo , Células de Schwann/metabolismo , Adulto Jovem
13.
Spinal Cord Ser Cases ; 10(1): 33, 2024 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-38704389

RESUMO

INTRODUCTION: Patients with spinal cord injury (SCI) and incomplete paralysis may experience muscle immobilization due to functional impairment of agonist and antagonist muscles. This can induce spasticity and pain, with the risk of contracture increasing as the period of immobilization increases. This could be aggravated by pain, which interferes with rehabilitation. There is no established treatment for pain and joint contractures caused by acute SCI. Botulinum therapy plays a role in relieving muscle tension. Here, we report a case of acute SCI in which botulinum therapy was administered. CASE PRESENTATION: The patient experienced a C5-cervical SCI due to a road traffic accident, with marked paralysis in the upper and lower limbs below the C5 level. The patient had persistent elbow flexion since the SCI and complained of excruciating pain, making adequate rehabilitation difficult. Botulinum toxin was administered to the biceps and brachialis muscles 15 days after the SCI. After administration, the patient experienced a reduction in pain with relaxation of the elbow flexor muscles, and rehabilitation treatment was resumed. This patient's contracture did not worsen, his pain decreased, and he was able to initiate self-feeding training. DISCUSSION: In this case, occupational and physical therapy was administered with botulinum therapy. Together, they successfully reduced pain. Botulinum therapy provides analgesia and muscle relaxation and may lead to functional recovery, and we believe that treatment can be considered even in the acute phase.


Assuntos
Traumatismos da Medula Espinal , Extremidade Superior , Humanos , Traumatismos da Medula Espinal/reabilitação , Traumatismos da Medula Espinal/complicações , Masculino , Fármacos Neuromusculares/uso terapêutico , Fármacos Neuromusculares/administração & dosagem , Adulto , Toxinas Botulínicas/uso terapêutico , Toxinas Botulínicas Tipo A/uso terapêutico , Toxinas Botulínicas Tipo A/administração & dosagem , Terapia Combinada
14.
Case Rep Neurol ; 16(1): 107-114, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39015834

RESUMO

Introduction: Disturbances in the visual pathway cause visual cognitive impairment. There is a lack of information regarding the effect of rehabilitation on individuals affected by this condition. Therefore, it is crucial to understand the effectiveness of rehabilitation interventions in this condition. Case Presentation: We present the case of an 87-year-old woman with hippocampal infarction. While the patient's ability to perform daily activities and engage in conversations was normal, she faced challenges at the execution stage, such as naming, constructing sentences, and copying. We diagnosed cerebral embolism because of atrial fibrillation and initiated direct oral anticoagulant therapy. Subsequently, we initiated a rehabilitation treatment comprising visual agnosia training (attribute learning training), verbalization learning training (writing training), and semantic memory training (copying training) to address visual agnosia. Conclusion: Associative visual perception challenges arising from hippocampal infarcts are rare and can be improved with early intervention through a rehabilitation program for visual agnosia.

15.
Clin Neurophysiol Pract ; 9: 162-167, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38707484

RESUMO

Objective: This study aimed to investigate the potential of whole-forearm flexor muscle (WFFM) compound muscle action potential (CMAP) as a quantitative biomarker for inclusion body myositis (IBM) pathology. Methods: We prospectively enrolled 14 consecutive patients (10 men and 4 women) diagnosed with IBM based on muscle biopsies. We evaluated the baseline-to-peak amplitude of the WFFM CMAP and other quantitative parameters, including grip and pinch strength, Inclusion Body Myositis Functional Rating Scale (IBMFRS) score, and other routine muscle CMAP amplitudes. Results: The WFFM CMAP was strongly correlated with disease duration and the IBMFRS score. The WFFM CMAP on the more affected side was lower than that on the less affected side. Furthermore, grip power was strongly correlated with the WFFM CMAP, whereas lateral pinch strength was strongly correlated with the WFFM and first dorsal interosseous CMAPs. The 3-point pinch strength was also correlated with the WFFM CMAP. Conclusions: This study demonstrates that the WFFM CMAP may serve as a biomarker of severity in IBM. Significance: Identification of this biomarker can support drug development, diagnosis, prognosis, and treatment options for patients with IBM.

16.
Cureus ; 16(8): e66226, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39238708

RESUMO

Background Glioblastoma (GBM) is the most frequent invasive brain tumor and a rapidly progressive disease with a poor prognosis that predominantly affects middle-aged and older adults. The relationship between daily functioning and prognosis in patients with GBM will become more important as advances in multimodality treatment are expected to increase the number of long-term survivors. Methods Sixty-seven patients were initially diagnosed with GBM at our hospital between December 2013 and December 2022. All patients were divided into two groups: those who survived for one year or longer from the date of discharge (Group A) and those who died within one year from the date of discharge (Group B). Muscle strength, nutritional status, and Karnofsky Performance Status (KPS) were examined upon admission (p1), post-surgery (p2), and discharge (p3), and their relationships with prognosis were investigated. Results Group A was significantly younger than Group B, with a significant difference in the total radiation dose. There were no significant differences in the anatomical tumor location, whether the tumor occurred on the left or right side, or tumor size. KPS at discharge (p3) and the degree of improvement in the KPS between p1 and p3 were associated with a good prognosis. Conclusions The KPS varies throughout the treatment. When considering the KPS as a prognostic indicator, the KPS at discharge is the most important, given the structure of the disability and the course of treatment for GBM.

17.
Brain ; 135(Pt 9): 2838-48, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22773541

RESUMO

Spinal and bulbar muscular atrophy is an adult-onset, hereditary motor neuron disease caused by the expansion of a trinucleotide CAG repeat within the gene encoding the androgen receptor. To date, several agents have been shown to prevent or slow disease progression in animal models of this disease. For the translational research of these agents, it is necessary to perform the detailed analysis of natural history with quantitative outcome measures and to establish sensitive and validated disease-specific endpoints in the clinical trials. To this end, we performed a prospective observation of disease progression over 3 years in 34 genetically confirmed Japanese patients with spinal and bulbar muscular atrophy by using quantitative outcome measures, including functional and blood parameters. The baseline evaluation revealed that CAG repeat length in the androgen receptor gene correlated not only with the age of onset but also with the timing of substantial changes in activity of daily living. Multiple regression analyses indicated that the serum level of creatinine is the most useful blood parameter that reflects the severity of motor dysfunction in spinal and bulbar muscular atrophy. In 3-year prospective analyses, a slow but steady progression was affirmed in most of the outcome measures we examined. In the analyses using random coefficient models that summarize the individual data into a representative line, disease progression was not affected by CAG repeat length or onset age. These models showed large interindividual variation, which was also independent of the differences of CAG repeat size. Analyses using these models also demonstrated that the subtle neurological deficits at an early or preclinical stage were more likely to be detected by objective motor functional tests such as the 6-min walk test and grip power or serum creatinine levels than by functional rating scales, such as the revised amyotrophic lateral sclerosis functional rating scale or modified Norris scale. Categorization of the clinical phenotypes using factor analysis showed that upper limb function is closely related to bulbar function, but not to lower limb function at baseline, whereas the site of onset had no substantial effects on disease progression. These results suggest that patients with spinal and bulbar muscular atrophy show a slow but steady progression of motor dysfunction over time that is independent of CAG repeat length or clinical phenotype, and that objective outcome measures may be used to evaluate disease severity at an early stage of this disease.


Assuntos
Força da Mão/fisiologia , Transtornos Musculares Atróficos/fisiopatologia , Receptores Androgênicos/genética , Caminhada/fisiologia , Atividades Cotidianas , Adulto , Idade de Início , Idoso , Progressão da Doença , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Transtornos Musculares Atróficos/genética , Transtornos Musculares Atróficos/patologia , Estudos Prospectivos , Inquéritos e Questionários , Repetições de Trinucleotídeos
18.
Clin Pract ; 13(4): 917-923, 2023 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-37623265

RESUMO

Constructive disability poses significant challenges. However, such manifestations are often overlooked. To address these disabilities, customized rehabilitation is necessary across disease stages. This case report demonstrates how customized, stage-based occupational therapy interventions can effectively rehabilitate patients with progressive constructive disability. Herein, a 33-year-old female patient with progressive constructive disability underwent direct training and compensatory therapy in early stages and progressed to instrumental activities of daily living training in later stages. This case demonstrates how such customized, progressive occupational therapy can achieve substantial functional improvements even for patients with advancing cognitive and physical impairments from constructive disability.

19.
J Rehabil Med Clin Commun ; 6: 12348, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37324933

RESUMO

Objective: Direct swallowing rehabilitation assessment in patients with highly infectious diseases, such as COVID-19, is not recommended. We aimed to explore the feasibility of using telerehabilitation for managing dysphagia in patients with COVID-19 in isolated hospital rooms. Design: Open-label trial. Subjects/patients: We examined 7 enrolled patients with COVID-19 who presented with dysphagia and were treated with telerehabilitation. Methods: Telerehabilitation was performed for 20 min daily and included indirect and direct swallowing training. Dysphagia was assessed before and after telerehabilitation using the 10-item Eating Assessment Tool, the Mann Assessment of Swallowing Ability and graphical evaluation using tablet device cameras. Results: All patients showed significant improvement in swallowing ability, evaluated by the range of the upward movement of their larynxes and the Eating Assessment Tool and Mann Assessment of Swallowing Ability scores. The change in swallowing evaluation scores was correlated with the number of telerehabilitation sessions. There was no infection spread to the medical staff treating these patients. Dysphagia in patients with COVID-19 was improved using telerehabilitation while ensuring a high degree of safety for clinicians. Conclusion: Telerehabilitation might eliminate the risks associated with patient contact and has the advantage of infection control. Its feasibility needs further exploration.

20.
Clin Neurophysiol Pract ; 8: 132-136, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37529160

RESUMO

Objective: Muscle strength, which correlates with the compound muscle action potential (CMAP), can also be estimated by measuring the CMAP. Therefore, we evaluated the CMAP of the flexor muscles of the whole forearm to identify their muscle strength. Methods: Fourteen healthy volunteers were enrolled. The elbow was determined to be the stimulation point, and the recording site for the flexor muscles of the whole forearm was set at approximately 8 cm distal to the elbow. We prospectively evaluated the baseline-to-peak amplitude of the CMAP of the whole forearm flexor muscles (WFFM), including that obtained from the median nerve stimulation (WFFMm), ulnar nerve stimulation (WFFMu), and their sum (WFFMsum). Additionally, we analyzed the relationships between WFFMm and WFFMu amplitudes with other quantitative parameters, including grip strength and routine CMAP amplitudes. Results: The CMAP's test-retest analysis revealed high reliability. Grip power was significantly correlated with WFFMm and WFFMsum and mildly correlated with WFFMu. Tip-pinch strength with WFFMm and flexor pollicis longus (FPL) measurements correlated significantly. Lateral-pinch strength was significantly correlated with the first dorsal interosseous muscle (FDI) measurements but not with WFFM. The abductor digiti minimi (ADM) and abductor pollicis brevis (APB) were not correlated with grip power or pinch strength. Conclusions: By electrophysiology examination, this study demonstrated that WFFMm is involved in grip power and other pinch strengths. This method may serve as a novel tool for measurement of distal muscle strengths. Significance: This is the first study to attempt to evaluate the muscle strength of forearm flexor muscles by measuring the CMAP.

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