RESUMEN
BACKGROUND: The interaction between motor dysfunction and respiratory functions in stroke patients with hemiplegia are not fully understood, particularly with regard to the relationship between changes in trunk control, balance, and daily activities, and changes in respiratory muscle strength and pulmonary volume. Investigating this relationship will facilitate the optimization of stroke rehabilitation strategies. METHODS: Clinical history data were collected from 134 patients to analyze the relationship between motor function scales scores and spirometric data. The data from 60 patients' data were used to evaluate the relationship between motor function scales scores and spirometric data at baseline and after 3-weeks rehabilitation. RESULTS: (1) Patients with lower scores on Trunk impairment Scale (TIS), Berg Balance Scale (BBS) and Barthel Index (BI) had weaker respiratory muscle strength and pulmonary function. (2) Stroke patients' BBS and BI scores showed differences between normal and unnormal maximal inspiratory pressure (MIP), but not in TIS. (3) Improvements in motor function led to promotion of enhanced respiratory function. Patient exhibited less MIP improvement at the severe level of TIS and BBS. CONCLUSIONS: Patients with hemiplegia exhibited diminished respiratory muscle strength and pulmonary function at a more severe motor dysfunction level. Impaired inspiratory muscle strength was associated with reduced balance ability and limitations in activities required for daily living. Enhanced motor function improved respiration and rehabilitation programs should prioritize the activation of diaphragm function to improve overall outcomes.
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Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular , Humanos , Estudios Retrospectivos , Hemiplejía/diagnóstico , Hemiplejía/rehabilitación , Accidente Cerebrovascular/complicaciones , Músculos RespiratoriosRESUMEN
Familial hemiplegic migraine (FHM), an autosomal dominant subtype of hemiplegic migraine, is a channelopathy presenting with severe headache, visual field defect, paresthesia, unilateral motor deficit, encephalopathy, seizures and aphasia. This cross-sectional study was conducted over 10 months in children aged 1-18 years suspected of hemiplegic migraine at a tertiary care pediatric hospital. Fourteen children were screened and five children with genetically confirmed FHM were included. The symptoms in the study population were paroxysmal hemiparesis (5/5), headache (5/5) and focal seizures (1/5). The hemiplegia episodes lasted from 4 h to 7 days. The mean age at the onset of neurological symptoms was 6.8 ± 0.7 years and the mean age at diagnosis was 12.8 ± 1.7 years, with a mean delay of 6.1 ± 1.9 years for the diagnosis. Neuroimaging during acute episodes revealed accentuated gray, white differentiation in the contralateral cerebral hemisphere with mild effacement of sulcal spaces in T2/fluid-attenuated inversion recovery (FLAIR) images. Genetic testing revealed ATP1A2 mutations (FHM2) in 4/5 and SCN1A (FHM3) in 1/5 patients. All of them (5/5) were initiated on oral topiramate and had favorable treatment responses with a mean follow-up duration of 7 ± 1.4 months. Diagnosis of FHM is mainly clinical and can be confirmed by genetic analysis. Perfusion and diffusion-weighted MRI should be considered during acute headache episodes, as it is mostly normal in symptom-free periods. Routine MRI sequences like T1 weighted, T2 weighted, FLAIR and contrast remain normal even during acute attacks.
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Encefalopatías , Migraña con Aura , Humanos , Niño , Adolescente , Migraña con Aura/diagnóstico , Migraña con Aura/tratamiento farmacológico , Migraña con Aura/genética , Hemiplejía/diagnóstico , Hemiplejía/genética , Estudios Transversales , Mutación , Cefalea , ConvulsionesRESUMEN
PURPOSE OF REVIEW: In this article, we review recent updates to the epidemiology, diagnostic testing, genetics, pathophysiology, and management of hemiplegic migraine. RECENT FINDINGS: While three genes have been historically associated with hemiplegic migraine, recent studies suggest two additional genes may also be implicated including PPRT2 and SLC1A3. Hemiplegic migraine is a severe subset of migraine with aura with symptoms including reversible hemiparesis in addition to other aura symptoms such as visual, sensory, or speech. The exact pathophysiology of hemiplegic migraine is not clear, but it is thought that this phenomenon is due to neuronal and glial depolarization causing cortical spreading depression. Due to the severity of presentation as well as the numerous mimickers, it is important to know a comprehensive differential and work-up. Given the low prevalence of the disease, most studies regarding treatment are limited to case studies. There is still an important need for further and larger studies regarding management of these cases.
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Epilepsia , Trastornos Migrañosos , Migraña con Aura , Humanos , Migraña con Aura/diagnóstico , Migraña con Aura/epidemiología , Migraña con Aura/genética , Hemiplejía/complicaciones , Hemiplejía/diagnóstico , Trastornos Migrañosos/diagnóstico , Trastornos Migrañosos/epidemiología , Trastornos Migrañosos/genética , Epilepsia/diagnóstico , NeuronasRESUMEN
The aim of this research is to study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with ATP1A3 (Na+/K+-ATPase alpha 3 gene)-related disorders in Southwest China. Patients with pathogenic ATP1A3 variants identified using next-generation sequencing were registered at the Children's Hospital of Chongqing Medical University from December 2015 to May 2019. We followed them as a cohort and analyzed their clinical data. Eleven patients were identified with de novo pathogenic ATP1A3 heterozygous variants. One (c.2542 + 1G > T, splicing) has not been reported. Eight patients with alternating hemiplegia of childhood (AHC), one with cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), and two with relapsing encephalopathy with cerebellar ataxia (RECA) were included. The initial manifestations of AHC included hemiplegia, oculomotor abnormalities, and seizures, and the most common trigger was an upper respiratory tract infection without fever. All patients had paroxysmal hemiplegic attacks during their disease course. The brain MRI showed no abnormalities. Six out of eight AHC cases reached a stable disease state after treatment. The initial symptom of the patient with CAPOS was ataxia followed by developmental regression, seizures, deafness, visual impairment, and dysarthria, and the brain MRI indicated mild cerebellar atrophy. No fluctuation was noted after using Acetazolamide. The initial manifestations of the two RECA cases were dystonia and encephalopathy, respectively. One manifested a rapid-onset course of dystonia triggered by a fever followed by dysarthria and action tremors, and independent walking was impossible. The brain MRI image was normal. The other one presented with disturbance of consciousness, seizures, sleep disturbance, tremor, and dyskinesias. The EEG revealed a slow background (δ activity), and the brain MRI result was normal. No response to Flunarizine was noted for them, and it took 61 and 60 months for them to reach a stable disease state, respectively. CONCLUSION: Pathogenic ATP1A3 variants play an essential role in the pathogenesis of Sodium-Potassium pump disorders, and AHC is the most common phenotype. The treatment strategies and prognosis depend on the phenotype categories caused by different variation sites and types. The correlation between the genotype and phenotype requires further exploration. WHAT IS KNOWN: ⢠Pathogenic heterozygous ATP1A3 variants cause a spectrum of neurological phenotypes, and ATP1A3-disorders are viewed as a phenotypic continuum presenting with atypical and overlapping features. ⢠The genotype-phenotype correlation of ATP1A3-disorders remains unclear. WHAT IS NEW: ⢠In this study, the genotypes and phenotypes of ATP1A3-related disorders from Southwest of China were described. The splice-site variation c.2542+1G>T was detected for the first time in ATP1A3-related disorders. ⢠The prognosis of twins with AHC p. Gly947Arg was more serious than AHC cases with other variants, which was inconsistent with previous reports. The phenomenon indicated the diversity of the correlation between the genotype and phenotype.
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Encefalopatías , Ataxia Cerebelosa , Distonía , Niño , Humanos , Hemiplejía/genética , Hemiplejía/diagnóstico , Hemiplejía/terapia , Ataxia Cerebelosa/genética , Ataxia Cerebelosa/terapia , ATPasa Intercambiadora de Sodio-Potasio/genética , Disartria , Pueblos del Este de Asia , Mutación , Fenotipo , ConvulsionesRESUMEN
BACKGROUND: The Shriners Hospital Upper Extremity Evaluation (SHUEE) is a video-based measure designed to assess upper extremity function in people with cerebral palsy (CP). The SHUEE completes both dynamic positional analysis (DPA; position during functional activities) and spontaneous functional analysis (spontaneous use of the involved limb). Although the SHUEE has been suggested as a measure for planning upper limb interventions and evaluating outcomes, limited evidence of its ability to detect change exists. Thus, this study aimed to describe responsiveness of the SHUEE to detect change after orthopaedic surgery. METHODS: In this Institutional Review Board-approved retrospective cohort study, we identified children with CP who were administered SHUEE on≥2 encounters. We formed pairs of initial and follow-up visits between temporally adjacent visits. Pairs were assigned to a surgery or non-surgery group based on intervening upper limb orthopaedic surgery. We compared differences in baseline SHUEE scores between groups and differences in temporally adjacent SHUEE scores within groups using Welch unequal variances t tests and paired t tests, respectively. RESULTS: Nineteen people (7 female) with hemiplegic CP had≥2 SHUEE assessments; Manual Ability Classification System levels I (3), II (8), III (7), IV (1); Gross Motor Function Classification System levels I (10), II (7), IV (2); mean age at baseline 11.9 (5.1 to 19.1) years; and follow-up at 13.4 (5.5 to 19.7) years. Six people had≥2 visits leading to 14 surgical pairs and 10 non-surgical pairs. At baseline, DPA of the wrist and forearm were significantly lower in the surgical group ( P <0.05). At follow-up, no significant difference between the groups existed in DPA measures ( P >0.05). After surgical intervention, there was a significant change in overall and wrist DPA ( P <0.05). CONCLUSIONS: The DPA measures demonstrated responsiveness to expected positional changes in the arm after orthopaedic surgery in people with CP. The SHUEE was useful in identifying abnormal segmental alignment pre-surgically and documenting changes in alignment postoperatively. As orthopaedic surgery does not address limb neglect or bimanual ability, spontaneous functional analysis scores were as expected-unchanged. LEVEL OF EVIDENCE: Level III, retrospective cohort study.
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Parálisis Cerebral , Procedimientos Ortopédicos , Niño , Humanos , Femenino , Adolescente , Adulto Joven , Adulto , Estudios Retrospectivos , Hemiplejía/diagnóstico , Hemiplejía/etiología , Extremidad SuperiorRESUMEN
OBJECTIVES: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. METHODS: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing (WES) result and the following information were collected; age, age of onset, developmental ability, seizure type, family history, MRI, WES report. The data collection started a year ago January 2021 in King Faisal Specialist Hospital and Research Centre, Riyadh, KSA. This has been cleared for publication by the Office of Research Affairs, and the Publication Number is 2225429. RESULTS: Five females and 2 males had onset ages of 0-3 years (mean=18 months). All had some degree of intellectual dysfunction, 6 had seizures (85%), 4 had neurologic abnormalities, 1 had autistic features and one had mild dystonia. CONCLUSION: Our small-cohort observations confirm that ATP1A3 mutations express a wide range of phenotypes, usually including some degree of cognitive-behavioral dysfunction (100% of patients), seizures (85% of patients), and AHC (71% of patients). Moreover, they further expand the evolving allelic spectrum of these disorders by identifying 3 novel mutations.
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Hemiplejía , Convulsiones , Masculino , Femenino , Humanos , Hemiplejía/diagnóstico , Hemiplejía/genética , Estudios Retrospectivos , Mutación/genética , Fenotipo , Convulsiones/genética , ATPasa Intercambiadora de Sodio-Potasio/genéticaRESUMEN
Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.
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Epilepsia , Hemiplejía , Niño , Epilepsia/diagnóstico , Epilepsia/genética , Proteínas Activadoras de GTPasa/genética , Hemiplejía/diagnóstico , Hemiplejía/genética , Humanos , Mutación , ConvulsionesRESUMEN
OBJECTIVES: Falls can occur daily in stroke patients and appropriate independence assessments for fall prevention are required. Although previous studies evaluated the short physical performance battery (SPPB) in stroke patients, the relationship between SPPB and fall prediction and walking independence remains unclear. Therefore, we aimed to verify whether SPPB is a predictor of walking independence. MATERIALS AND METHODS: The present study included 105 hemiplegic stroke patients who were admitted to the rehabilitation ward and gave consent to participate. Cross-sectional physical function and functional independence measure cognitive (FIM-C) evaluation were conducted in hemiplegic stroke patients. Logistic regression analysis using the increasing variable method (likelihood ratio) was performed to extract factors for walking independence. Cutoff values were calculated for the extracted items using the receiver operating-characteristic (ROC) curve. RESULTS: Among 86 participants included in the final analysis, 36 were independent walkers and 50 were dependent walkers. In the logistic regression analysis, SPPB and FIM-C were extracted as factors for walking independence. The cutoff value was 7 [area under the curve (AUC), 0.94; sensitivity, 0.83; specificity, 0.73)] for SPPB and 32 (AUC, 0.83; sensitivity, 0.69; specificity, 0.57) for FIM-C in ROC analysis CONCLUSIONS: SPPB and FIM-C were extracted as factors for walking independence. Although SPPB alone cannot determine independent walking, combined assessment of SPPB with cognitive function may enable more accurate determination of walking independence.
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Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular , Estudios Transversales , Marcha , Hemiplejía/diagnóstico , Hemiplejía/etiología , Humanos , Rendimiento Físico Funcional , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/diagnósticoRESUMEN
Deep vein thrombosis (DVT) in hemiplegic patients mainly affects hemiplegic limbs, DVT can also occur only in healthy limbs, and some hemiplegic patients have DVT in both limbs. Characteristics and risk factors of DVT in hemiplegic, healthy, and bilateral limbs are unknown. To describe the proportion, risk factors, extent, and timing of DVT in hemiplegic, healthy and bilateral limbs. A 10-year retrospective review of consecutive patients was performed. DVT affected hemiplegic limbs in 34 (62%), healthy limbs in 11 (20%), and was bilateral in 10 (18%). DVT was more likely to develop in healthy limbs of hemiplegic patients without surgery (odds ratio (OR) 0.022; 95% confidence interval (CI) 0.001-0.922), and without diabetes (OR 0.023, 95% CI 0.001-0.853). Among the veins at the level of which DVT occurred, intermuscular veins represented 20 (45%) in hemiplegic, 5 (37%) in healthy, and 6 (74%) in bilateral limbs. The median time that DVT occurred after hemiplegia onset was 18 days (interquartile range [IQR] 9-79) in hemiplegic, 17 days (IQR 10-56) in healthy, and 21 days (IQR 8-27) in bilateral limbs. Early and effective prevention of DVT after surgery and optimal management of diabetes may reduce the risk of DVT in bilateral limbs. It's important to prevent proximal extension of calf vein DVT. DVT prophylaxis should be started early and continued for at least 3 weeks after hemiplegia onset.
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Diabetes Mellitus , Hemiplejía , Pierna/irrigación sanguínea , Venas , Trombosis de la Vena , Anciano , Anticoagulantes/uso terapéutico , Quimioprevención/métodos , Quimioprevención/estadística & datos numéricos , Traumatismos Craneocerebrales/complicaciones , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiología , Femenino , Hemiplejía/complicaciones , Hemiplejía/diagnóstico , Hemiplejía/etiología , Humanos , Masculino , Pronóstico , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la Enfermedad , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/diagnóstico , Procedimientos Quirúrgicos Operativos/estadística & datos numéricos , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/etiología , Trombosis de la Vena/fisiopatología , Trombosis de la Vena/prevención & controlRESUMEN
OBJECTIVES: Infection with the SARS-COV2 virus (COVID-19) may be complicated by thrombotic diathesis. This complication often involves the pulmonary microcirculation. While macrovascular thrombotic complications of the lung may include pulmonary artery embolism, pulmonary artery thrombus in situ has also been hypothesized. Pulmonary vein thrombosis has not been described in this context. METHODS/RESULTS: Herein, we provide a case of an otherwise healthy male who developed an ischemic stroke with left internal carotid thrombus. Further imaging revealed pulmonary emboli with propagation through the pulmonary veins into the left atrium. This left atrial thrombus provides a source of atypical "paradoxic arterial embolism". CONCLUSIONS: Thrombotic outcomes in the setting of severe COVID 19 pneumonia may include macrovascular venous thromboembolism, microvascular pulmonary vascular thrombosis and arterial thromboembolism. Pulmonary vein, herein described, provides further mechanistic pathway for potential arterial embolic phenomenon.
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COVID-19 , Trombosis de las Arterias Carótidas , Accidente Cerebrovascular Isquémico , Embolia Pulmonar , Enfermedad Veno-Oclusiva Pulmonar , Encéfalo/diagnóstico por imagen , COVID-19/sangre , COVID-19/complicaciones , COVID-19/fisiopatología , Trombosis de las Arterias Carótidas/complicaciones , Trombosis de las Arterias Carótidas/diagnóstico , Diagnóstico Diferencial , Atrios Cardíacos/diagnóstico por imagen , Atrios Cardíacos/patología , Hemiplejía/diagnóstico , Hemiplejía/etiología , Humanos , Accidente Cerebrovascular Isquémico/diagnóstico , Accidente Cerebrovascular Isquémico/etiología , Accidente Cerebrovascular Isquémico/fisiopatología , Pulmón/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Embolia Pulmonar/diagnóstico por imagen , Embolia Pulmonar/etiología , Enfermedad Veno-Oclusiva Pulmonar/complicaciones , Enfermedad Veno-Oclusiva Pulmonar/diagnóstico , Enfermedad Veno-Oclusiva Pulmonar/fisiopatología , SARS-CoV-2/patogenicidad , Tomografía Computarizada por Rayos X/métodosRESUMEN
BACKGROUND: Assessment of Children's Hand Skills (ACHS) and Children's Hand-Skills Ability Questionnaire (CHSQ) are interconnected hand skills assessment tools that together contain parent questionnaire and observational assessment. With this quality, ACHS and CHSQ enable the therapist to obtain information about the child's real-life performances as well as to conduct a clinical observational assessment. The purpose of this study was to investigate the validity and reliability of the Turkish versions of ACHS and CHSQ in children with hemiplegic cerebral palsy (HCP). METHODS: A total of 112 children with HCP between 2 and 12 years of age were included. All participants were subjected to ACHS, CHSQ, Shriners Hospital Upper Extremity Evaluation (SHUEE) and ABILHAND-Kids. Convergent construct validity was investigated through analysing the relationship between ACHS and SHUEE and between CHSQ and ABILHAND-Kids. Discriminative construct validity was investigated through analysing the differences between genders for CHSQ and ACHS. For reliability, test-retest interclass correlation coefficient (ICC) and internal consistency Cronbach's alpha were calculated and analysed. RESULTS: ACHS showed very strong relationships with SHUEE's spontaneous functional analysis (r = 0.86) and grip-release function (r = 0.86) parameters with a strong relationship with positional dynamic analysis (r = 0.78). CHSQ's leisure (r = 0.80), school/education (r = 0.75) and activities of daily living (r = 0.76) domains showed strong relationships with the ABILHAND-Kids. There was no difference between genders for ACHS and all domains of CHSQ (p > 0.05). All domains and total score of ACHS and CHSQ had perfect test-retest reliability (ICC > 0.90). ACHS had perfect internal consistency (Cronbach's α = 0.98); CHSQ had very high internal consistency (Cronbach's α = 0.84). CONCLUSIONS: The Turkish versions of ACHS (ACHS-TR) and CHSQ (CHSQ-TR) are valid and reliable hand skills assessment tools in children with HCP.
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Parálisis Cerebral , Actividades Cotidianas , Niño , Evaluación de la Discapacidad , Femenino , Hemiplejía/diagnóstico , Humanos , Masculino , Reproducibilidad de los Resultados , Encuestas y CuestionariosRESUMEN
Background Sitting balance training is an important therapy used by physical and occupational therapists who work with hemiplegic patients. Objective This study compared reach distance (Rd) and center of pressure distance (COPd) for postural control during a multidirectional reaching task in 26 patients with hemiplegia. Method Following the evaluation of trunk function, we classified subjects according to their Chedoke-McMaster assessment stage: group A, stages 5 and 6; group B, stage <4. We used a functional reach apparatus with a body pressure distribution measurement system and a video camera to measure Rd and COPd. Subjects performed multidirectional reaching tasks in the forward/front direction and toward the nonparetic and paretic sides. Resuts Group A showed moderately strong to strong positive correlations between Rd and COPd in all directions, particularly in the forward/front direction. Group B showed lower correlations between Rd and COPd, particularly during tasks where reach was directed toward the paretic side. Conclusion These results suggest that differences in trunk function had an effect on Rd and COPd during multi-directional reaching task.
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Hemiplejía/fisiopatología , Actividad Motora , Equilibrio Postural , Sedestación , Anciano , Anciano de 80 o más Años , Deambulación Dependiente , Evaluación de la Discapacidad , Femenino , Estado Funcional , Hemiplejía/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Limitación de la Movilidad , Examen FísicoRESUMEN
OBJECTIVE: The aim of this study was to evaluate the efficacy of isokinetic strengthening in paretic upper extremity among patients with post-stroke hemiplegia. METHODS: Hemiplegic patients with at least 6 months post-stroke and those with arm and hand Brunnstrom motor recovery stage ≥ 3 were included to the study. Patients were randomized into two groups. Isokinetic training group received 4 weeks (3 days/week) of isokinetic strengthening, while the control group was tailored strengthening exercises with exercise bands. Outcome measures were the isokinetic peak torque of wrist flexor and extensors, Fugl-Meyer Assessment of upper extremity, Stroke Impact Scale (SIS), Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire, hand grip strength, peak isometric strength of wrist flexor and extensors. Outcome measures were evaluated before treatment, after treatment (at the end of week 4) and 4 weeks after the end of treatment (at the end of week 8). The trial was registered at ClinicalTtrials.gov (ID: NCT03834311). RESULTS: After 4 weeks, changes in extensor peak torque at 60°/sn (p=0.007) and extensor peak isometric muscle strength (p=0.007) were higher in the isokinetic group (n=12) than those in the control group (n=12). At the end of week 8, only DASH score revealed a significantly higher improvement in the isokinetic group than that in the control group (p=0.014). CONCLUSIONS: Isokinetic strengthening may provide motor and functional improvement in paretic upper extremity among patients with post-stroke hemiplegia.
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Hemiplejía/rehabilitación , Fuerza Muscular , Ejercicios de Estiramiento Muscular , Músculo Esquelético/fisiopatología , Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular/terapia , Extremidad Superior/fisiopatología , Adulto , Anciano , Evaluación de la Discapacidad , Femenino , Estado Funcional , Hemiplejía/diagnóstico , Hemiplejía/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Recuperación de la Función , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/fisiopatología , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is considered a heterogeneous disease because of its highly variable clinical manifestations. To date, there are no reports of NIID patients presenting with hemiplegic migraine (HM)-like headache, or of HM and NIID co-occurring as comorbidity, and the connection between these 2 seemingly unrelated clinical conditions has yet to be established. METHOD: We present a patient with NIID who was previously diagnosed with HM. To determine the pathogenesis of HM in this NIID patient, we systematically reviewed published NIID and HM cases and cataloged them based on their clinical manifestations. RESULT: The clinical manifestations of NIID is highly various; however, there is no case reported to date that shows HM-like symptoms or cerebral edema. All documented symptomatic HM cases show vascular dysfunction to various degrees, but none of them has been shown to be correlated with NIID. CONCLUSION: Our patient is the first documented case in which HM and NIID occur simultaneously. Vascular dysfunctions that cause cerebral hypoperfusion and glucose hypometabolism, two of the dominant causes of symptomatic HM, may be associated with the accumulation of eosinophilic hyaline inclusions that cause NIID. However, the existence of inclusions may also alter neuronal behavior and indirectly cause cerebral hypoperfusion and glucose hypometabolism. Further research and observations are needed to examine the relationship between HM and NIID.
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Trastornos Cerebrovasculares , Hemiplejía , Migraña con Aura , Enfermedades Neurodegenerativas , Adulto , Edema Encefálico/diagnóstico , Edema Encefálico/epidemiología , Edema Encefálico/etiología , Trastornos Cerebrovasculares/complicaciones , Trastornos Cerebrovasculares/epidemiología , Comorbilidad , Hemiplejía/diagnóstico , Hemiplejía/epidemiología , Hemiplejía/etiología , Humanos , Cuerpos de Inclusión Intranucleares , Masculino , Migraña con Aura/diagnóstico , Migraña con Aura/epidemiología , Migraña con Aura/etiología , Enfermedades Neurodegenerativas/complicaciones , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/epidemiología , Adulto JovenRESUMEN
AIM: To evaluate presence and severity of social impairments in alternating hemiplegia of childhood (AHC) and determine factors that are associated with social impairments. METHOD: This was a retrospective analysis of 34 consecutive patients with AHC (19 females, 15 males; mean age: 9y 7mo, SD 8y 2mo, range 2y 7mo-40y), evaluated with the Social Responsiveness Scale, Second Edition (SRS-2). RESULTS: SRS-2 scores, indicating level of social impairment, were higher than population means (75, SD 14 vs 50, SD 10, p<0.001). Of these, 27 out of 34 had high scores: 23 severe (>76), four moderate (66-76). All subscale domains, including social cognition, social communication, social awareness, social motivation, restricted interests, and repetitive behavior, had abnormal scores compared to population means (p<0.001). High SRS-2 scores were associated with the presence of autism spectrum disorder (ASD) and epilepsy (p=0.01, p=0.04), but not with other scales of AHC disease symptomatology. All nine patients who received formal evaluations for ASD, because they had high SRS-2 scores, were diagnosed with ASD. INTERPRETATION: Most patients with AHC have impaired social skills involving multiple domains. ASD is not uncommon. High SRS-2 scores in patients with AHC support referral to ASD evaluation. Our findings are consistent with current understandings of the pathophysiology of AHC and ASD, both thought to involve GABAergic dysfunction. WHAT THIS PAPER ADDS: Most patients with alternating hemiplegia of childhood (AHC) have impaired social skills involving multiple domains. These impairments are significant compared to population means. Most patients with AHC have high Social Responsiveness Scale, Second Edition (SRS-2) scores. Patients with AHC with high SRS-2 scores are likely to have autism spectrum disorder.
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Trastorno del Espectro Autista/diagnóstico , Epilepsia/diagnóstico , Hemiplejía/diagnóstico , Discapacidad Intelectual/diagnóstico , Escalas de Valoración Psiquiátrica , Percepción Social , Habilidades Sociales , Adolescente , Adulto , Trastorno del Espectro Autista/etiología , Niño , Preescolar , Femenino , Hemiplejía/complicaciones , Humanos , Masculino , Estudios Retrospectivos , Adulto JovenRESUMEN
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent paroxysmal hemiplegic attacks that affect one or the other side of the body. Up to 74% of patients with AHC have a pathologic variant in the ATP1A3 gene. After the introduction of next-generation sequencing, intermediate cases and atypical cases have expanded the clinical spectrum of ATP1A3-related disorders. Herein, we report the first case of AHC in Korea. A 33-year-old man visited our hospital with recurrent hemiplegic and dystonic episode after his first birthday. He was completely normal between episodes and did not have any ataxia, but brain magnetic resonance imaging showed cerebellar atrophy. He also had pes planovalgus deformity. Whole exome sequencing revealed a heterozygous G947R variant in the ATP1A3 gene (c.2839G > C, rs398122887), which is a known pathologic variant. This atypical case of AHC demonstrates the importance of the clinical approach in diagnosing ATP1A3-related disorders.
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Hemiplejía/diagnóstico , Adulto , Encéfalo/diagnóstico por imagen , Hemiplejía/genética , Heterocigoto , Humanos , Imagen por Resonancia Magnética , Masculino , Polimorfismo de Nucleótido Simple , República de Corea , ATPasa Intercambiadora de Sodio-Potasio/genética , Secuenciación Completa del GenomaRESUMEN
Background: Progressive supranuclear palsy (PSP) is a progressive neurodegenerative brain disease which has been rarely described in association with hyperkinetic symptoms. Here, we report a case of PSP that was presented with hyperkinetic movement disorder, hemiplegic dystonia, and other clinical features that overlap with behavioral variant frontotemporal dementia (bvFTD) and corticobasal syndrome (CBS).Case presentation: A 63-year-old female presented to our hospital with a history of frontal lobe symptoms, impaired cognition, hyperkinetic movement disorders, dystonia, and frequent falls. Her magnetic resonance imaging (MRI) scan showed atrophy of midbrain and right temporal lobe. [18F]FDG PET result revealed reduced 18F-FDG uptake with obvious laterality (right > left). [18F]THK5317 PET scan showed evident increased uptake in the brain stem and basal ganglia. Treatment with Tiapride significantly improved hyperkinetic symptoms, but other motor symptoms were not alleviated. Three years later, the patient could hardly walk even with assistance.Conclusion: PSP can present hyperkinetic movement disorders and asymmetry in image that widen the existing phenotypic spectrum.
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Distonía/etiología , Hemiplejía/etiología , Hipercinesia/etiología , Parálisis Supranuclear Progresiva/complicaciones , Parálisis Supranuclear Progresiva/diagnóstico , Distonía/diagnóstico , Distonía/fisiopatología , Femenino , Hemiplejía/diagnóstico , Hemiplejía/fisiopatología , Humanos , Hipercinesia/diagnóstico , Hipercinesia/fisiopatología , Imagen por Resonancia Magnética , Persona de Mediana Edad , Tomografía de Emisión de Positrones , Parálisis Supranuclear Progresiva/patología , Parálisis Supranuclear Progresiva/fisiopatologíaRESUMEN
An inexperienced therapist lacks the analysis of a patient's movement. In addition, the patient does not receive objective feedback from the therapist due to the visual subjective judgment. The aim is to provide a guide for in-depth rehabilitation therapy in virtual space by continuously tracking the user's wrist joint during Leap Motion Controller (LMC) activities and present the basic data to confirm steady therapy results in real-time. The conventional Box and Block Test (BBT) is commonly used in upper extremity rehabilitation therapy. It was modeled in proportion to the actual size and Auto Desk Inventor was used to perform the 3D modeling work. The created 3D object was then implemented in C # through Unity5.6.2p4 based on LMC. After obtaining a wrist joint motion value, the motion was analyzed by 3D graph. Healthy subjects (23 males and 25 females, n = 48) were enrolled in this study. There was no statistically significant counting difference between conventional BBT and system BBT. This indicates the possibility of effective diagnosis and evaluation of hemiplegic patients post-stroke. We can keep track of wrist joints, check real-time continuous feedback in the implemented virtual space, and provide the basic data for an LMC-based quantitative rehabilitation therapy guide.
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Hemiplejía/diagnóstico , Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular , Articulación de la Muñeca , Adulto , Fenómenos Biomecánicos , Femenino , Humanos , Masculino , Accidente Cerebrovascular/diagnóstico , MuñecaRESUMEN
This study describe the characteristics of hemiplegic stroke gait with principal component analysis (PCA) of trunk movement (TM) and gait event (GE) parameters by the inertial measurement unit (IMU) sensors: (1) Background: This process can determine dominant variables through multivariate examination to identify the affected, unaffected, and healthy lower-limb sides; (2) Methods: The study monitored forty patients with stroke and twenty-eight healthy individuals comprising the control group for comparison. The IMU sensors were attached to each subject while performing a 6 m walking test. Sixteen variables extracted from the measured data were divided into 7 GE and 9 TM variables explaining pelvis tilt, oblique, and rotation. (3) Results: The tilt range variables of the trunk movement on the affected and unaffected sides were lower than those of the healthy side; this showed between-group differences in various GE variables. For the healthy and affected sides, 80% of variances were explained with 2 or 3 PCs involving only a few dominant variables; and (4) Conclusions: The difference between each side leg should be considered during the development of a diagnosis method. This research can be utilized to develop functional assessment tools for personalized treatment and to design appropriate training protocols.
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Análisis de la Marcha , Trastornos Neurológicos de la Marcha/diagnóstico , Hemiplejía/diagnóstico , Monitoreo Fisiológico/instrumentación , Accidente Cerebrovascular , Torso , Anciano , Fenómenos Biomecánicos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pelvis , Análisis de Componente Principal , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/diagnósticoRESUMEN
OBJECTIVES: The aim of the study was to investigate the relation of lower limb muscle strength with normalized walking value, gait speed, and balance in patients with poststroke hemiplegia. METHODS: Functional ambulatory unilateral hemiplegic patients were included in the study. Functionality of the lower limb was tested by Fugl-Meyer lower extremity motor subscale. Six-minute walk test (6MWT), 10-meter walk test, and Berg Balance Scale were performed to evaluate functional walking capacity, gait speed, and balance, respectively. Normalized 6MWT value was calculated by using a formula. Maximum isometric strengths of 8 muscle groups of both limbs were measured using a handheld dynamometry and residual deficits of the paretic side muscles were calculated. RESULTS: The study population was comprised of 61 hemiplegic patients (mean age: 54.6 ± 11.7 years and mean duration after stroke: 23.4 ± 18.1 months). Mean normalized walking distance on 6MWT was 44.4% of expected. The residual deficits of the affected lower extremity muscles were negatively correlated with normalized 6MWT: hip flexors (râ¯=â¯-.651), hip extensors (râ¯=â¯-.621), hip abductors (râ¯=â¯-.657), hip adductors (râ¯=â¯-.630), knee flexors (râ¯=â¯-.738), knee extensors (râ¯=â¯-.659), ankle dorsiflexors (râ¯=â¯-.776), and ankle plantar flexors (râ¯=â¯-.773). Lower extremity residual deficits also showed moderate-strong negative correlations with Berg Balance Scores and gait speed. Multiple linear regression analyses showed that the residual deficits of the ankle plantar flexors and knee flexors are the major independent determinants of normalized 6MWT results (R: .791 R2: 625). CONCLUSIONS: Residual deficits of lower extremity muscles-particularly of ankle dorsiflexors, plantar flexors, and knee flexors-are related to walking performance, gait speed and balance. Besides, knee flexors and plantar flexors are predictors of normalized 6MWT.