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1.
BMC Musculoskelet Disord ; 23(1): 565, 2022 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-35689278

RESUMEN

BACKGROUND: Total knee arthroplasty (TKA) is an important management strategy for patients with knee osteoarthritis (OA) refractory to conservative management. Postoperative range of motion (ROM) exercise is important to recover patients' activities of daily living. Continuous passive motion (CPM) is a machine that provides passive ROM exercises of the knee joint in a pre-defined arc of motion. The short- and long-term effects of CPM exercise are controversial. We hypothesized that the inconsistent results of the CPM exercise are due to poor fitting of CPM machines and measurement errors. This study aims to present a protocol for investigating a new type of CPM machine that could be applied in a sitting position in comparison with the conventional type of CPM machine for patients with unilateral TKAs. METHODS: This study presents the protocol of a prospective, multicenter, single-blinded, three-armed randomized controlled trial (RCT). One hundred and twenty-six patients receiving unilateral TKAs will be recruited at the physical medicine and rehabilitation clinics of two urban tertiary medical hospitals. The patients were randomly divided into three groups with a 1:1:1 allocation. The intervention group will receive two weeks of post-operative rehabilitation using a new type of CPM machine. The control group will receive 2 weeks of post-operative rehabilitation using conventional CPM machines. The third group will receive post-operative rehabilitation with both types of CPM machines. The primary outcome will be the change in the passive ROM of the affected knee joint from baseline to 2 weeks after baseline assessment. The secondary outcomes will be pain and functional measurements, and will include patient-reported outcomes and performance tests surveyed at multiple time points up to 3 months after TKA. DISCUSSION: This is the first RCT to investigate the effect of a new type of CPM machine. The results of this RCT will determine whether the position of the patients during CPM exercise is important in post-operative rehabilitation protocols after TKAs and will provide evidence for the development of proper rehabilitation guidelines after TKAs. TRIAL REGISTRATION: Clinical Research Information Service of Republic of Korea, KCT0005520, Registered on 21 October 2020, https://cris.nih.go.kr/cris/search/detailSearch.do/21750.


Asunto(s)
Artroplastia de Reemplazo de Rodilla , Osteoartritis de la Rodilla , Artroplastia de Reemplazo de Rodilla/efectos adversos , Artroplastia de Reemplazo de Rodilla/rehabilitación , Humanos , Articulación de la Rodilla/cirugía , Terapia Pasiva Continua de Movimiento/métodos , Estudios Multicéntricos como Asunto , Osteoartritis de la Rodilla/cirugía , Ensayos Clínicos Controlados Aleatorios como Asunto , Rango del Movimiento Articular , Resultado del Tratamiento
2.
Dysphagia ; 33(6): 857-865, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-29915928

RESUMEN

We investigated the functional changes in swallowing and voluntary coughing before and after tracheostomy decannulation among stroke patients who had undergone a tracheostomy. We also compared these functions between stroke patients who underwent tracheostomy tube removal and those who did not within 6 months of their stroke. Seventy-seven stroke patients who had undergone a tracheostomy were enrolled. All patients were evaluated by videofluoroscopic swallowing studies and a peak flow meter through the oral cavity serially until 6 months after their stroke. During the intensive rehabilitation period, if a patient satisfied the criteria for tracheostomy tube removal, the tube was removed. The patients were divided into the 'decannulated' group and the 'non-decannulated' group according to their tracheostomy tube removal status. In the decannulated group, swallowing function did not change before and after tracheostomy decannulation; however, cough function was significantly improved after decannulation. Although both groups exhibited functional improvement in swallowing and coughing over time, the improvement in the decannulated group was more significant than the improvement in the non-decannulated group. Our results revealed that stroke patients who had better functional improvement in swallowing and coughing were more likely to be potential candidates for tracheostomy decannulation. Stroke patients who recovered from neurogenic dysphagia, they were no longer affected by the mechanical effect of the tracheostomy tube on swallowing function. This study suggests that if patients show improvement in swallowing and coughing after their stroke, a multidisciplinary approach to tracheostomy decannulation would be needed to achieve better rehabilitation outcomes.


Asunto(s)
Tos/fisiopatología , Trastornos de Deglución , Deglución/fisiología , Remoción de Dispositivos/métodos , Accidente Cerebrovascular , Traqueostomía , Anciano , Trastornos de Deglución/etiología , Trastornos de Deglución/fisiopatología , Trastornos de Deglución/prevención & control , Femenino , Fluoroscopía/métodos , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , República de Corea , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/terapia , Traqueostomía/métodos , Traqueostomía/rehabilitación , Resultado del Tratamiento , Grabación en Video/métodos
3.
Arch Phys Med Rehabil ; 96(10): 1866-72, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26184890

RESUMEN

OBJECTIVE: To investigate the relation between voluntary cough and swallowing functions according to the type of lesion in patients with acute stroke. DESIGN: Cross-sectional study. SETTING: University rehabilitation hospital. PARTICIPANTS: Acute stroke patients with dysphagia symptoms (N=397). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: A peak cough flow meter was used to measure voluntary coughing ability. Swallowing function was evaluated using the functional dysphagia scale and the penetration-aspiration scale based on the results of a videofluoroscopic swallowing study. Stroke lesions were divided into one of the following 3 categories: cortical, subcortical, and brainstem. These evaluations were performed within 2 weeks after stroke onset. RESULTS: Of the enrolled 397 patients, 207 patients were classified as cortical stroke, 106 patients were classified as subcortical stroke, and 84 patients were classified as brainstem stroke. Among the subscores of the functional dysphagia scale, the amount of pharyngeal residue negatively correlated with peak cough flow meter results across all stroke lesion types. In the brainstem lesion, peak cough flow and penetration-aspiration scale scores were high compared with other lesions, but these 2 functions did not show a correlation. CONCLUSIONS: This study revealed that large amounts of pharyngeal residue correlated with weak voluntary cough ability in all stroke lesion groups. We also showed a discrepancy between 2 functions in the brainstem lesion group. Our results suggest that voluntary coughing exercises could be a helpful therapeutic option for dysphagia to prevent pulmonary complications in some types of patients with stroke.


Asunto(s)
Tos/fisiopatología , Trastornos de Deglución/fisiopatología , Accidente Cerebrovascular/fisiopatología , Anciano , Estudios Transversales , Trastornos de Deglución/etiología , Trastornos de Deglución/rehabilitación , Femenino , Fluoroscopía , Humanos , Masculino , Persona de Mediana Edad , Accidente Cerebrovascular/complicaciones , Rehabilitación de Accidente Cerebrovascular
4.
Neurol Sci ; 35(3): 357-63, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23975521

RESUMEN

Gait freezing and speech disturbance are disabling axial features of Parkinson's disease (PD). However, the pathogenesis of these features remains unclear. We investigated the relation between changes in gait freezing and speech disturbance using visual and auditory cues in PD. 18 PD patients, comprising of 9 patients with freezing (PDGF) and 9 without gait freezing were studied. Patients performed a 7-m back-and-forth walk in a baseline state and with visual and auditory cues. Gait velocity, stride length and cadence were evaluated using a three-dimensional gait analysis system. For speech evaluation, patients read ten sentences in a baseline state and with visual and auditory cues. The time delay of speech initiation, speech rate and the number of repetitions per sentence were quantified. In PDGF patients, the increase in gait velocity positively correlated with the decrease in the time delay of the speech initiation. Also, the increase in the gait velocity and cadence positively correlated with the decrease in the number of repetitions per sentence. The increase in the stride length positively correlated with the increase in speech rate. Lastly, the increase in stride length positively correlated with the decrease in the number of repetitions per sentence. These findings suggest that there is a common pathomechanism of gait freezing and speech disturbance in PD.


Asunto(s)
Trastornos Neurológicos de la Marcha/etiología , Enfermedad de Parkinson/complicaciones , Trastornos del Habla/etiología , Evaluación de la Discapacidad , Femenino , Trastornos Neurológicos de la Marcha/diagnóstico , Humanos , Modelos Lineales , Masculino , Examen Neurológico , Trastornos del Habla/diagnóstico , Estadísticas no Paramétricas
5.
Arch Phys Med Rehabil ; 95(3): 431-8, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24239790

RESUMEN

OBJECTIVE: To investigate the effects of combination cathodal transcranial direct current stimulation (tDCS) and virtual reality (VR) therapy for upper extremity (UE) training in patients with subacute stroke. DESIGN: Pilot randomized controlled trial. Patients were randomly assigned to 1 of 3 groups: group A received cathodal tDCS, group B received VR, and group C received combination therapy (cathodal tDCS was simultaneously applied during VR therapy). SETTING: University hospital. PARTICIPANTS: Patients (N=59) with impaired unilateral UE motor function after stroke. INTERVENTION: Fifteen sessions of treatment over a 3-week period. MAIN OUTCOME MEASURES: The Modified Ashworth Scale, manual muscle test (MMT), Manual Function Test (MFT), Fugl-Meyer Scale (FMS), and Box and Block Test were used to assess UE function. To evaluate activities of daily living, the Korean-Modified Barthel Index (K-MBI) was used. All outcomes were measured before and immediately after treatment. RESULTS: After treatment, all groups demonstrated significant improvements in MMT, MFT, FMS, and K-MBI scores. The change in MFT and FMS scores was different between the 3 groups. Post hoc analysis revealed that the improvement of MFT and FMS scores in group C was significantly higher than those of the other 2 groups. CONCLUSIONS: In the present pilot study, the combination of brain stimulation using tDCS and peripheral arm training using VR could facilitate a stronger beneficial effect on UE impairment than using each intervention alone. This combination therapy might be a helpful method to enhance recovery of the paretic UE in patients with stroke.


Asunto(s)
Simulación por Computador , Terapia por Estimulación Eléctrica/métodos , Rehabilitación de Accidente Cerebrovascular , Extremidad Superior , Interfaz Usuario-Computador , Actividades Cotidianas , Anciano , Femenino , Hospitales Universitarios , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Recuperación de la Función , República de Corea
6.
J Am Heart Assoc ; 13(7): e033667, 2024 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-38533970

RESUMEN

BACKGROUND: Methamphetamine use has emerged as a major risk factor for cardiovascular and cerebrovascular disease in young adults. The aim of this study was to investigate a possible association of methamphetamine use with cardioembolic stroke. METHODS AND RESULTS: We performed a retrospective study of patients with acute ischemic stroke admitted at our medical center between 2019 and 2022. All patients were screened for methamphetamine use and cardiomyopathy, defined as left ventricular ejection fraction ≤45%. Among 938 consecutive patients, 46 (4.9%) were identified as using methamphetamine. Compared with the nonmethamphetamine group (n=892), the methamphetamine group was significantly younger (52.8±9.6 versus 69.7±15.2 years; P<0.001), included more men (78.3% versus 52.8%; P<0.001), and had a significantly higher rate of cardiomyopathy (30.4% versus 14.0%; P<0.01). They were also less likely to have a history of atrial fibrillation (8.7% versus 33.4%; P<0.01) or hyperlipidemia (28.3% versus 51.7%; P<0.01). Compared with patients with cardiomyopathy without methamphetamine use, the patients with cardiomyopathy with methamphetamine use had significantly lower left ventricular ejection fraction (26.0±9.59% versus 32.47±9.52%; P<0.01) but better functional outcome at 3 months, likely attributable to significantly younger age and fewer comorbidities. In the logistic regression model of clinical variables, methamphetamine-associated cardiomyopathy was found to be significantly associated with cardioembolic stroke (odds ratio, 1.79 [95% CI, 1.04-3.06]; P<0.05). CONCLUSIONS: We demonstrate that methamphetamine use is significantly associated with cardiomyopathy and cardioembolic stroke in young adults.


Asunto(s)
Fibrilación Atrial , Cardiomiopatías , Accidente Cerebrovascular Embólico , Accidente Cerebrovascular Isquémico , Metanfetamina , Accidente Cerebrovascular , Masculino , Adulto Joven , Humanos , Metanfetamina/efectos adversos , Accidente Cerebrovascular Isquémico/diagnóstico , Accidente Cerebrovascular Isquémico/epidemiología , Accidente Cerebrovascular Isquémico/etiología , Volumen Sistólico , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/inducido químicamente , Estudios Retrospectivos , Función Ventricular Izquierda , Cardiomiopatías/complicaciones , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/epidemiología , Fibrilación Atrial/inducido químicamente , Factores de Riesgo
7.
Arch Phys Med Rehabil ; 94(5): 803-7, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23298790

RESUMEN

OBJECTIVE: To compare the therapeutic effect of low- and high-frequency repetitive transcranial magnetic stimulation (rTMS) of the posterior parietal cortex (PPC) in patients with acute stroke with visuospatial neglect. DESIGN: This study was a prospective, double-blind, sham-controlled trial. Data are presented from 27 patients (15 men, 12 women; mean age, 67.0y) randomly assigned to receive 10 sessions of low-frequency (1Hz) rTMS over the nonlesioned PPC, high-frequency (10Hz) rTMS over the lesioned PPC, or sham stimulation. SETTING: National university hospital. PARTICIPANTS: Patients (N=27) diagnosed with visuospatial neglect after stroke. INTERVENTION: Ten sessions of rTMS over a 2-week period. MAIN OUTCOME MEASURES: The severity of visuospatial neglect was assessed pre- and posttreatment using the Motor-Free Visual Perception Test, line bisection test, star cancellation test, and Catherine Bergego Scale. RESULTS: When comparing the differences in the Motor-Free Visual Perception Test, line bisection test, star cancellation test, Catherine Bergego Scale, and Korean-Modified Barthel Index (K-MBI) scores before and after treatment according to group, we found that changes in the line bisection test and K-MBI scores were significantly different between 3 groups. In the post hoc analysis, the improvement in the line bisection test score in the high-frequency rTMS group was statistically significant compared with that in the sham stimulation group (high vs sham P=.03, low vs sham P=.09, high vs low P=.58), and the improvements in the K-MBI scores of the 2 rTMS groups were statistically significant compared with those in the sham stimulation group (high vs sham P<.01, low vs sham P=.02, high vs low P=.75). CONCLUSIONS: These results indicate that high-frequency rTMS is effective in the treatment of visuospatial neglect in patients with acute stroke.


Asunto(s)
Agnosia/terapia , Percepción Espacial , Rehabilitación de Accidente Cerebrovascular , Estimulación Magnética Transcraneal/métodos , Percepción Visual , Anciano , Agnosia/etiología , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Lóbulo Parietal , Desempeño Psicomotor , Índice de Severidad de la Enfermedad , Estadísticas no Paramétricas , Accidente Cerebrovascular/complicaciones
8.
Sci Rep ; 13(1): 8494, 2023 05 25.
Artículo en Inglés | MEDLINE | ID: mdl-37231082

RESUMEN

Methamphetamine use causes spikes in blood pressure. Chronic hypertension is a major risk factor for cerebral small vessel disease (cSVD). The aim of this study is to investigate whether methamphetamine use increases the risk of cSVD. Consecutive patients with acute ischemic stroke at our medical center were screened for methamphetamine use and evidence of cSVD on MRI of the brain. Methamphetamine use was identified by self-reported history and/or positive urine drug screen. Propensity score matching was used to select non-methamphetamine controls. Sensitivity analysis was performed to assess the effect of methamphetamine use on cSVD. Among 1369 eligible patients, 61 (4.5%) were identified to have a history of methamphetamine use and/or positive urine drug screen. Compared with the non-methamphetamine group (n = 1306), the patients with methamphetamine abuse were significantly younger (54.5 ± 9.7 vs. 70.5 ± 12.4, p < 0.001), male (78.7% vs. 54.0%, p < 0.001) and White (78.7% vs. 50.4%, p < 0.001). Sensitivity analysis showed that methamphetamine use was associated with increased white matter hyperintensities, lacunes, and total burden of cSVD. The association was independent of age, sex, concomitant cocaine use, hyperlipidemia, acute hypertension, and stroke severity. Our findings suggest that methamphetamine use increases the risk of cSVD in young patients with acute ischemic stroke.


Asunto(s)
Enfermedades de los Pequeños Vasos Cerebrales , Hipertensión , Accidente Cerebrovascular Isquémico , Metanfetamina , Accidente Cerebrovascular , Humanos , Masculino , Accidente Cerebrovascular Isquémico/complicaciones , Metanfetamina/efectos adversos , Enfermedades de los Pequeños Vasos Cerebrales/complicaciones , Enfermedades de los Pequeños Vasos Cerebrales/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/complicaciones , Hipertensión/complicaciones , Imagen por Resonancia Magnética
9.
Brain Neurorehabil ; 16(2): e18, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37554256

RESUMEN

This clinical practice guideline (CPG) is the fourth edition of the Korean guideline for stroke rehabilitation, which was last updated in 2016. The development approach has been changed from a consensus-based approach to an evidence-based approach using the Grading of Recommendations Assessment Development and Evaluation (GRADE) method. This change ensures that the guidelines are based on the latest and strongest evidence available. The aim is to provide the most accurate and effective guidance to stroke rehabilitation teams, and to improve the outcomes for stroke patients in Korea. Fifty-five specialists in stroke rehabilitation and one CPG development methodology expert participated in this development. The scope of the previous clinical guidelines was very extensive, making it difficult to revise at once. Therefore, it was decided that the scope of this revised CPG would be limited to Part 1: Rehabilitation for Motor Function. The key questions were selected by considering the preferences of the target population and referring to foreign guidelines for stroke rehabilitation, and the recommendations were completed through systematic literature review and the GRADE method. The draft recommendations, which were agreed upon through an official consensus process, were refined after evaluation by a public hearing and external expert evaluation.

10.
Am J Phys Med Rehabil ; 101(2): e25-e27, 2022 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-34508057

RESUMEN

ABSTRACT: Myotonic dystrophy is a systemic disorder associated with progressive muscle weakness of the limbs and multiorgan dysfunction. This condition commonly affects the levator palpebrae superioris muscle, which leads to ptosis and eventually affects patients' activities of daily living. The effects of ptosis on activities of daily living are usually overlooked; therefore, the importance of treatment is underestimated, and surgical procedures are considered infeasible in patients with preexistent levator palpebrae superioris muscle weakness. This case report describes the case of a middle-aged man with myotonic dystrophy type 1, who presented with ptosis, which significantly restricted his participation in rehabilitation and activities of daily living secondary to a limited visual field. He was evaluated by an ophthalmologist; however, surgery was contraindicated in view of the high risk of complications, such as exposure keratitis and corneal ulcer. Double eyelid tapes were used as a nonsurgical intervention, which significantly increased the palpebral fissure height and improved the visual field, with a higher modified functional index score. Double eyelid tapes may serve as an effective, safe, and reliable therapeutic option for severe ptosis in patients with myotonic dystrophy.


Asunto(s)
Blefaroptosis/terapia , Distrofia Miotónica/complicaciones , Cinta Quirúrgica , Blefaroptosis/etiología , Párpados , Humanos , Masculino , Ilustración Médica , Persona de Mediana Edad
11.
Healthcare (Basel) ; 10(7)2022 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-35885763

RESUMEN

This study aimed to discover and propose solutions to various decision-making problems, including obtaining consent, encountered by physicians when administering genetic testing to patients with disabilities. A preliminary survey and focus group interviews (FGIs) were conducted with 27 specialists who had 5-25 years of clinical experience in rehabilitation medicine, pediatrics, and obstetrics and gynecology, regarding their experience in providing genetic testing to people with developmental disabilities. This included the "role of medical staff in the patient's decision-making process", "difficulty of the consent process for genetic testing", and so forth. Some limitations were identified in the genetic testing communication process for patients with disabilities. Although providing information corresponding to the level of understanding of each person and accurately evaluating the correct consenting ability is important, the usage rate of auxiliary tools, such as booklets and videos, was only 50.0%. Additionally, there were concerns regarding the marriage prospects of people with disabilities. For people with developmental disabilities to provide consent for genetic testing, legal consent forms and explanation aids that consider individual characteristics are necessary. Moreover, education on disability awareness throughout society, including cost support, is needed.

12.
Front Neurol ; 13: 744945, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35359630

RESUMEN

Background: Stroke-related sarcopenia is caused by various factors, such as brain damage, systemic catabolic state, skeletal muscle imbalance, and malnutrition. In the long-term care plan after stroke, appropriate rehabilitation strategies to achieve maximum functional improvement and prevent the development of sarcopenia are important. This study has investigated the effect of branched-chain amino acid (BCAA) supplementation on sarcopenia after stroke. We also evaluated the effect of BCAA on functional improvement during the intensive rehabilitation period. Methods: Patients with subacute stroke with stroke-related disabilities were enrolled and given dietary supplement powder containing BCAAs for 1 month. These BCAAs were supplied through the nutrition team during feeding time. Patients whose age, sex, and stroke lesions were similar to those of the study group were enrolled in the control group through medical record review. Both groups received personalized intensive inpatient rehabilitation therapy in a single-unit rehabilitation center. All patients' target calories were calculated regularly by the nutritional support team in our institution. Sarcopenia status was evaluated using grip strength and the skeletal muscle index (SMI), which was assessed by dual-energy X-ray absorptiometry (DEXA). The functional status associated with stroke was evaluated every month, including activities of daily living, balance, gait, and swallowing. Results: A total of 54 patients were enrolled, with 27 patients in each of the two groups. The study group showed significantly greater improvement in SMI after intervention than the control group. Both groups improved functionally over time, but the improvement in the study group was significantly greater than that in the control group. Univariate analysis revealed that patients with better functional status had a greater SMI with a combination of BCAA supplementation and intensive rehabilitation therapy. Conclusion: Our results showed a positive effect of BCAA supplementation on sarcopenia after stroke. We also found that nutritional support helps functional improvement during neurological recovery. These results suggest that comprehensive rehabilitation intervention combined with BCAA supplementation could be a helpful option during the critical period of post-stroke neurological recovery.

13.
Medicine (Baltimore) ; 101(43): e31628, 2022 Oct 28.
Artículo en Inglés | MEDLINE | ID: mdl-36316855

RESUMEN

RATIONALE: Heterotopic ossification (HO), an ectopic bone formation in soft tissue around the joint, is a complication observed in stroke patients. HO around the hip joint causes a reduction in the functional ability of patients by generating pain and limiting range of motion (ROM). In addition, it results in impaired mobility, ultimately affecting quality of life and increasing the mortality of patients. Extracorporeal shock wave therapy (ESWT) has demonstrated efficacy in treating soft tissue inflammation and has been used to reduce patients' pain in HO. However, almost none of the studies reported degradation in the size of HO on images obtained before and after ESWT application. PATIENT CONCERNS AND DIAGNOSIS: We report a case of a 36-year-old man who developed HO around both hip joints 3 months after bilateral pontine hemorrhage. INTERVENTIONS: Seven months after HO development, ESWT was administered to the area of HO every other day for a total of 10 sessions. OUTCOMES: Immediately following treatment, the ROM of both hip joints increased. Thus the patient was able to maintain a sitting posture without having to be bound to the wheelchair. In addition, the tolerable sitting time before groaning increased from less than ten minutes to almost 60 minutes by the end of all ESWT sessions. Unlike other previous reports, a diminished HO size was confirmed by comparing plain X-rays and bone scans obtained before and after treatment sessions. LESSONS: In this case, we report an objective size reduction in HO in radiologic findings after applying ESWT to both hips. ESWT is a safe, easy-to-apply, and noninvasive modality. We would like to emphasize the use of ESWT as a treatment option for HO to decrease the extent of HO, as well as to improve pain, spasticity and function in patients with stroke.


Asunto(s)
Tratamiento con Ondas de Choque Extracorpóreas , Osificación Heterotópica , Accidente Cerebrovascular , Masculino , Humanos , Adulto , Tratamiento con Ondas de Choque Extracorpóreas/métodos , Calidad de Vida , Resultado del Tratamiento , Tomografía Computarizada por Rayos X/efectos adversos , Osificación Heterotópica/complicaciones , Osificación Heterotópica/terapia , Dolor/etiología , Accidente Cerebrovascular/complicaciones , Hemorragia Cerebral/complicaciones
14.
Medicine (Baltimore) ; 99(28): e20810, 2020 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-32664072

RESUMEN

RATIONALE: The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes. PATIENT CONCERNS: A 59-year-old male presented for evaluation of progressive muscle weakness since his late twenties. When he was 38 years old, he had muscle weakness in the upper extremities and had a waddling gait, hyper lordosis of lower back, and anterior pelvic tilt. His gait disturbance and muscle weakness slowly progressed. When he was 55 years old, he could not walk at all and had to use a wheelchair for ambulation. DIAGNOSIS: Next-generation sequencing using a custom target capture-based gene panel including specific genes responsible for muscular dystrophy was performed. As a result, the proband was genetically diagnosed as LGMD type 2B, carrying 2 compound heterozygous mutations (NM_003494.3:c.1663C>T, p.Arg555Trp; rs377735262 and NM_003494.3:c.2997G>T, p.Trp999Cys; rs28937581) of the DYSF gene. INTERVENTIONS: Physical and occupational therapy were prescribed properly for the first time Bracing and assistive devices were adapted specifically to the patient's deficiencies to preserve mobility and function and prevent contractures. OUTCOMES: The patient with LGMD has periodic assessments of physical and occupational therapy for the prevention and management of comorbidities. However, in the 3 years after the gene panel sequencing diagnoses, his weakness was slowly progress and the patient still could not walk. LESSONS: Gene panel sequencing allows for the correct recognition of different LGMD subtypes, improving timely treatment, management, and enrolment of molecularly diagnosed individuals in clinical trials.


Asunto(s)
Disferlina/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Distrofia Muscular de Cinturas/genética , Tirantes/normas , Trastornos Neurológicos de la Marcha/etiología , Humanos , Masculino , Persona de Mediana Edad , Debilidad Muscular/etiología , Distrofia Muscular de Cinturas/patología , Distrofia Muscular de Cinturas/terapia , Mutación , Terapia Ocupacional/métodos , Manejo de Atención al Paciente/métodos , Medicina Física y Rehabilitación/métodos
15.
Clin Chim Acta ; 508: 28-32, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32389683

RESUMEN

INTRODUCTION: Bethlem myopathy is a kind of collagen VI related myopathy which affects proximal skeletal muscles and leads to gait disturbance and multiple joint contractures with an onset in the first two decades of life. Lung function impairment (respiratory muscle and diaphragmatic weakness, ventilatory restriction, hypoxaemia and hypercapnia) and respiratory failure are part of the clinical spectrum and can occur in ambulatory patients. METHODOLOGY: We carried out whole exome sequencing (WES) in combination with neuromuscular diseases-associated genes-filtering to detect the possible causative mutation(s) in a Korean family with Bethlem myopathy. An electrodiagnostic study showed myopathic pattern (normal nerve conduction study, and early recruitment and short amplitude muscle unit action potentials) in the proband. RESULTS: Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) was identified by WES in the proband only: heterozygous missense mutations of the COL6A1 (NM_001848.2: c.823G > T, p.Gly275Trp; rs1556425467) and of the COL6A3 genes (NM_004369.3: c.9349G > A, p.Asp3117Asn; rs1226664855). COL6A3 mutation may be candidate as disease-associated variant, as far as it was found only in the proband harboring another heterozygous mutation in COL6A1 gene, previously reported as different pathogenic mutations (p.Gly275Arg and p.Gly275Glu) at the same codon in Bethlem myopathy. CONCLUSION: Our findings suggest that the coexistence of these digenic mutations is rare, but it may be used for the risk evaluation of individuals with a possible susceptibility to Bethlem myopathy. Taken together, genetic diagnosis using WES is a useful approach for the identification of pathogenic mutations associated with Bethlem myopathy.


Asunto(s)
Contractura , Distrofias Musculares , Colágeno Tipo VI/genética , Humanos , Distrofias Musculares/congénito , Distrofias Musculares/genética , Mutación
16.
Clin Chim Acta ; 506: 50-54, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32184094

RESUMEN

INTRODUCTION: Emery-Dreifuss muscular dystrophy (EDMD) also known as humeroperoneal muscular dystrophy, is a skeletal myopathy characterized by the clinical triad of progressive muscular weakness, joint contractures, and cardiac disease. METHODOLOGY: Herein, we reported a family including two patients (the proband and his son) affected with progressive muscular dystrophy manifested by joint contractures without cardiac involvement ("EDMD-like" phenotype). Interestingly, electodiagnostic study results of the proband showed a neuropathic pattern different from the myopathic pattern in most muscular dystrophy patients. To identify the underlying genetic cause, genomic DNA of the proband was analyzed by WES using Agilent's SureSelect XT Human All Exon v5. RESULTS: A novel de novo pathogenic heterozygous missense mutation (NM_182914.2: c.4858G > A; p.Ala1620Thr) of the SYNE2 gene, which had not been previously reported was identified by whole exome sequencing in the proband and by Sanger sequencing in his son. CONCLUSION: To the best knowledge, SYNE2 mutation was reported first by whole exome sequencing in a Korean family with EDMD-like features. We emphasized the role of genetic analysis using whole exome sequencing, which allows the correct recognition of this molecular diagnosis and brings together the neuromuscular spectrum of this complex clinical scenario, leading to proper clinical management.


Asunto(s)
Secuenciación del Exoma , Proteínas de Microfilamentos/genética , Distrofia Muscular de Emery-Dreifuss/genética , Proteínas del Tejido Nervioso/genética , Humanos , Masculino , Persona de Mediana Edad , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Distrofia Muscular de Emery-Dreifuss/patología , Mutación , Linaje , República de Corea
17.
J Rehabil Med ; 52(5): jrm00064, 2020 05 31.
Artículo en Inglés | MEDLINE | ID: mdl-32412643

RESUMEN

OBJECTIVE: To identify preoperative physical performance factors that predict stair-climbing ability at 1 month after total knee arthroplasty. DESIGN: Prospective cohort study. SETTING: University-based rehabilitation centre. SUBJECTS: Eighty-four patients who underwent a primary unilateral total knee arthroplasty Methods: Before and 1 month post-operation, the patients completed physical performance tests, including a stair-climbing test, a 6-minute walk test, a Timed Up-and-Go test, tests of the isometric flexor and extensor strength of the operated and non-operated knees, and instrumental gait analysis. Disease-specific physical function was measured by the Western Ontario McMaster Universities Osteoarthritis Index. RESULTS: Correlation analysis showed that postoperative stair-climbing test scores were significantly correlated with preoperative physical performance and function. Linear regression analysis showed that postoperative stair-ascent scores were correlated with preoperative Timed Up-and-Go test scores and peak torque of the extensor of the operated knee. Postoperative stair-descent scores were positively correlated with preoperative stair-descent scores and age. CONCLUSION: The results show that preoperative balance ability and quadriceps strength in the operated knee could influence postoperative stair-climbing ability at 1 month after total knee arthroplasty. These findings will be useful for developing pre- and post-operative rehabilitation strategies for improving stair-climbing ability in the early stages after total knee arthroplasty.


Asunto(s)
Subida de Escaleras/fisiología , Anciano , Artroplastia de Reemplazo de Rodilla/rehabilitación , Femenino , Humanos , Masculino , Periodo Preoperatorio , Estudios Prospectivos
18.
Clin Interv Aging ; 14: 1255-1264, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31371931

RESUMEN

Background: Patients with severe dysphagia after stroke are usually fed using a nasogastric tube. However, this method is inconvenient and causes complications. The oro-esophageal (OE) tube has been used as an alternative parenteral feeding method for patients for whom safe oral feeding is impossible. This study aimed to evaluate the therapeutic effects and complications of OE tube feeding in stroke patients with dysphagia. Methods: This study was designed as a retrospective medical chart review of dysphagic stroke patients who were recommended for OE tube feeding. Thirty-eight stroke patients were recommended for OE tube feeding according to videofluoroscopic swallowing study (VFSS) findings. Of those patients, 17 received OE tube feeding training and conventional dysphagia therapy. Follow-up VFSSs were performed sequentially based on the patients' conditions. When a patient was able to swallow therapeutic foods with specific viscosities during the VFSS, oral feeding was considered to be initiated. Patients were divided into two groups according to final feeding methods. Results: Seventeen patients attempted OE tube feeding. Among them, 64.7% of the patients could change to full oral feeding at their follow-up VFSS evaluation. Additionally, 70.6% of the patients showed gastroesophageal reflux disease regardless of whether they changed to oral feeding. On individual items of the Functional Dysphagia Scale, both groups showed significant improvements in the triggering of pharyngeal swallowing, the amount of residue, and the pharyngeal transit time. These functions were better improved in the patients who could change to oral feeding than in those who could not. Both groups showed significant aggravation of nasal penetration. Conclusion: Our study quantitatively shows the therapeutic effects and complications of OE tube training. OE tube feeding can facilitate the swallowing process and assist patients in transitioning to oral feeding. This easy-to-apply technique may significantly impact future treatment strategies in stroke patients with severe dysphagia.


Asunto(s)
Trastornos de Deglución/terapia , Nutrición Enteral/métodos , Rehabilitación de Accidente Cerebrovascular/métodos , Accidente Cerebrovascular/terapia , Anciano , Deglución , Trastornos de Deglución/etiología , Monitorización del pH Esofágico , Métodos de Alimentación , Femenino , Estudios de Seguimiento , Reflujo Gastroesofágico/etiología , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Accidente Cerebrovascular/complicaciones , Resultado del Tratamiento
19.
Ann Rehabil Med ; 43(1): 11-18, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30852866

RESUMEN

OBJECTIVE: To determine positive effect of neuromuscular electrical stimulation (NMES) in conventional dysphagia therapy on masseter muscle oral dysfunction of patients after subacute stroke. METHODS: Among subacute stroke patients who were diagnosed as oropharyngeal dysphagia by videofluoroscopy swallowing study (VFSS), those with oral dysfunction were enrolled. They were randomly assigned to a study group or a control group. The study group received NMES on masseter muscle and suprahyoid muscle simultaneously, while the control group received NMES only on suprahyoid muscle. NMES therapy session as applied 30 minutes each time, two times per day for a total of 20 sessions. Both groups received conventional dysphagia therapy for 2 weeks. All enrolled patients were evaluated by VFSS after 2 weeks. Oropharyngeal swallowing function was evaluated by Penetration-Aspiration Scale, Functional Dysphagia Scale (FDS), and American Speech-Language-Hearing Association National Outcome Measurement System swallowing scale based on results of VFSS. RESULTS: Patients were randomly assigned to the study group (n=20) or the control group (n=20). There were no significant differences in baseline characteristics or initial values between the two groups. After 2 weeks of NMES, both groups showed improvement in scores of total FDS and pharyngeal phase FDS. Additionally, the study group showed improvement in oral phase FDS. Changes in all measurements were similar between the two groups. CONCLUSION: In this preliminary study, NMES for masseter muscle has a therapeutic effect on oral dysfunction of patients after subacute stroke.

20.
Ann Rehabil Med ; 43(1): 96-105, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30852876

RESUMEN

OBJECTIVE: To investigate the effects of combination functional electrical stimulation (FES) and standing frame training on standing balance in stroke patients. METHODS: Patients who had hemiparesis and postural instability after stroke were randomly assigned to one of the two groups; study group underwent FES on the quadriceps and tibialis anterior muscle simultaneously with standing balance training. The control group received standing frame training and FES separately. Both the groups received their respective therapies for 3 weeks. Stability index in Biodex Balance master system, Berg Balance Scale (BBS), manual muscle test, the Korean version of Modified Barthel Index, and Korean version of Mini-Mental State Examination were used to evaluate the effects of the treatment. RESULTS: In total, 30 patients were recruited to the study group and 30 to the control group. Three weeks after treatment, both the groups showed improvement in postural stability scores and physical and cognitive functions. When changes in postural stability were compared between the groups, the study group showed more significant improvement than the control group with regards to the scores of BBS and the stability indices. CONCLUSION: In this study, we found the therapeutic effectiveness of combined therapy of FES and standing frame in subacute stroke patients. The presented protocol is proposed as time-saving and can be applied easily in the clinical setting. Thus, the proposed combined therapy could be a useful method for improving standing balance in subacute stroke patients.

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