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Functional electrical stimulation (FES)-cycling is a technique used to provide voluntary muscle contraction during a functional task. The aims were primarily to determine the effects of FES-cycling on shoulder pain and subluxation, and secondarily to evaluate the improvement of upper extremity motor function in patients with acute-subacute stroke patient. In this prospective trial, 21 patients with acute-subacute stroke, randomly assigned into the FES-cycling group or the standard rehabilitation program (control group). Analyses of shoulder subluxation were carried out by radiography. The numeric rating scale was used to evaluate the intensity of pain, Fugl-Meyer and Frenchay arm tests for motor function, and functional independence measure for functional status. The outcome data were evaluated at baseline and at the end of 4-week treatment. Intragroup comparisons showed improvement of acromiohumeral distance, Fugl-Meyer assessment, and functional independence measure in both groups after treatment. In intergroup comparison, FES-cycling group exerted better outcomes in shoulder pain compared with the control group (P=0.015). Correlation analyses demonstrated only positive correlation between shoulder subluxation and pain (P=0.022). FES-cycling was superior to standard rehabilitation therapy for shoulder pain relief in patients with acute-subacute stroke. Therefore, combining FES-cycling with a standard rehabilitation program alleviates shoulder pain and may prevent development of shoulder subluxation over time.

Background: A wide variety of factors influence stroke prognosis, including age, stroke severity, stroke mechanism, infarct location, comorbid conditions, clinical findings, and related complications. The aim of this study was to detect the prognostic determinants in patients with acute stroke for guiding rehabilitation. Methods: Patients with ischemic acute stroke were included in the study. Patients’ age, sex, education level, and marital status, premorbid personality traits, comorbidities such as current smoking status and alcohol consumption, regular exercise habits, and sleeping disorder were recorded. Motor assessment and daily activity skills were evaluated according to the Brunnstrom staging and Functional Independence Measure (FIM), respectively. Results: A total of 85 patients were studied. All patients’ motor and functional stages were significantly improved with the rehabilitation. The improvements in the upper extremity motor levels were less in whom over 76 years and smokers, in patients who had 4 and more comorbidities and sleep disorders. The functional improvement was less in whom over 76 years and men, and in patients who had 4 and more comorbidities and sleep disorders. Conclusion: The significant post-stroke predictor of insufficiency in functioning was having 4 or more risk factors.

Following repeated weaning failures in acute care services, spinal cord injury (SCI) patients who require prolonged mechanical ventilation and tracheostomy are discharged to their homes or skilled nursing facilities, with a portable mechanical ventilator (MV) and/or tracheostomy tube (TT) with excess risk of complications, high cost and low quality of life. We hypothesized that many difficult-to-wean patients with cervical SCI can be successfully managed in a rehabilitation clinic. The aim of our study was to develop a respiratory rehabilitation, MV weaning and TT decannulation protocol and to evaluate the effectiveness of this protocol in tetraplegic patients.A multidisciplinary and multifaceted protocol, including respiratory assessment and management themes, was developed and performed based on the findings from other studies in the literature. Tetraplegic patients with the diagnosis of difficult-to-wean, who were admitted to the rehabilitation clinic after having been discharged from the intensive care unit to their home with home-type MV and/or TT, were included in this prospective observational study.The respiratory rehabilitation protocol was applied to 35 tetraplegic patients (10 home-type MV and tracheostomy-dependent, and 25 tracheostomized patients) with C1-C7 ASIA impairment scale grade A, B, and C injuries. Seven out of 10 patients successfully weaned from MV and 30 of 35 patients were decannulated. Four patients were referred for diaphragm pace stimulation and tracheal stenosis surgery. The mean durations of MV weaning and decannulation were 37 and 31 days, respectively.A multifaceted, multidisciplinary respiratory management program can change the process of care used for difficult-to-wean patients with SCI. Implications for rehabilitation Findings from this study indicate the significance of a multidimensional evaluation of any reversible factors for prolonged MV- and/or TT-dependent SCI patients. Thus, rehabilitation specialists should take this into consideration and should provide the appropriate amount of time to these patients. The proposed protocol of respiratory rehabilitation for MV- and/or TT-dependent SCI patients shows promising results in terms of changing the care used for these patients. Successful implementation of a respiratory rehabilitation and weaning protocol is dependent on careful planning and detailed communication between the rehabilitation specialist and intensivist during the respiratory rehabilitation process. Because many of the so-called difficult- or impossible-to-wean patients were successfully weaned from MV and TT in the PMR clinic, the need for such an outlet for countries without specialized centers is supported.

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To investigate the effectiveness of local steroid injection and surgical decompression in the treatment of patients with severe carpal tunnel syndrome (CTS) and also to compare short-term outcomes using clinical and electrophysiological criteria.The patients diagnosed as severe CTS were divided into two groups. Group 1 received local steroid injection and Group 2 underwent surgical decompression. The Boston Questionnaire that consists of two sections as the Boston Symptom Severity Scale (BSS) and the Functional Status Scale (FSS) was completed by the patients.A total of 33 patients completed the study. Since two patients had bilateral severe CTS, a total of 35 hands were evaluated in the study. In Group 1, a significant difference was recorded between some pre- and post-treatment clinical parameters (BSS and FSS scores) and all electrophysiological parameters excluding motor conduction velocities. In Group 2, a statistically significant difference was found between pre- and post-treatment BSS scores and all electrophysiological parameters excluding motor conduction velocity and distal latency. However intergroup differences were not statistically significant as for all clinical and electrophysiological parameters (BSS, FSS, sensory amplitude, sensory conduction velocity, distal latency, motor amplitude, motor conduction velocity).In the treatment of severe CTS, steroid injection and surgical decompression achieved favourable improvements in clinical and electrophysiological parameters within a short-term without superiority of one treatment over other. Therefore, in patients in whom surgical decompression can not be applied, local steroid injection can be recommended as a less invasive and a promising treatment alternative.

BackgroundECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The objective of this study was to describe a family with 2 siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. MethodsClinical evaluation, MRI imaging, genome-wide linkage, exome sequencing, urine metabolite profiling, and protein expression studies were performed. ResultsThe first sibling is 17 years old and presents with generalized dystonia and severe bilateral pallidal MRI lesions after 1 episode of infantile subacute metabolic encephalopathy (Leigh-like syndrome). In contrast, the younger sibling (15 years old) only suffers from paroxysmal exercise-induced dystonia and has very mild pallidal MRI abnormalities. Both patients carry compound heterozygous ECHS1 mutations: c.232G>T (predicted protein effect: p.Glu78Ter) and c.518C>T (p.Ala173Val). Linkage analysis, exome sequencing, cosegregation, expression studies, and metabolite profiling support the pathogenicity of these mutations. Expression studies in patients' fibroblasts showed mitochondrial localization and severely reduced levels of ECHS1 protein. Increased urinary S-(2-carboxypropyl)cysteine and N-acetyl-S-(2-carboxypropyl)cysteine levels, proposed metabolic markers of this disorder, were documented in both siblings. Sequencing ECHS1 in 30 unrelated patients with paroxysmal dyskinesias revealed no further mutations. ConclusionsThe phenotype associated with ECHS1 mutations might be milder than reported earlier, compatible with prolonged survival, and also includes isolated paroxysmal exercise-induced dystonia. ECHS1 screening should be considered in patients with otherwise unexplained paroxysmal exercise-induced dystonia, in addition to those with Leigh and Leigh-like syndromes. Diet regimens and detoxifying agents represent potential therapeutic strategies. (c) 2016 International Parkinson and Movement Disorder Society

How transcription factors (TFs) cooperate within large protein complexes to allow rapid modulation of gene expression during development is still largely unknown. Here we show that the key haematopoietic LIM-domain-binding protein-1 (LDB1) TF complex contains several activator and repressor components that together maintain an erythroid-specific gene expression programme primed for rapid activation until differentiation is induced. A combination of proteomics, functional genomics and in vivo studies presented here identifies known and novel co-repressors, most notably the ETO2 and IRF2BP2 proteins, involved in maintaining this primed state. The ETO2–IRF2BP2 axis, interacting with the NCOR1/SMRT co-repressor complex, suppresses the expression of the vast majority of archetypical erythroid genes and pathways until its decommissioning at the onset of terminal erythroid differentiation. Our experiments demonstrate that multimeric regulatory complexes feature a dynamic interplay between activating and repressing components that determines lineage-specific gene expression and cellular differentiation., Conserved sets of transcription factors (TFs) regulate hematopoiesis. Here, Stadhouders et al. show that IRF2BP2 is a component of the LDB1 TF complex and together with its co-repressor ETO2, enhances transcriptional repression, which plays a crucial role at the erythroid progenitor stage.

In recent years, microRNAs (miRNA) have been demonstrated to be present in body fluids and may therefore serve as diagnostic markers for diseases. By characterizing miRNA profiles in plasma, a miRNA signature may potentially be developed as a diagnostic and risk assessment tool for particular (patho)physiological states. This chapter describes the isolation, purification, identification, and sequencing of human plasma miRNAs.

BACKGROUND AND OBJECTIVES: The main objectives of this cross-sectional study were (1) to examine chronic pain using the Multidimensional Pain Inventory-Spinal Cord Injury (MPI-SCI) version and (2) to assess the relationship between chronic pain and functional status, depression, and sleep quality among patients with SCI. DESIGN AND SETTINGS: This was a cross-sectional study of all eligible patients admitted to the Ministry of Health Ankara Diskapi Yildirim Beyazit Education and Research Hospital Physical Therapy and Rehabilitation Clinic between January 2007 and July 2010. METHODS: Forty-four patients (33 male, 11 female) with traumatic SCI, aged ≥18 years, who had pain continuing for ≥6 months and were hospitalized in the physical therapy and rehabilitation clinic were included in this cross-sectional study. Chronic pain intensity, functional status, depression, and sleep quality were assessed according to the MPI-SCI, Functional Independence Measure (FIM), Hamilton Rating Scale for Depression (HAM-D), and Pittsburg Sleep Quality Index (PSQI), respectively. RESULTS: A positive correlation was observed between “Pain Severity”ݠ(one of the subscales of the MPI-SCI) and HAM-D (r=0.487, P=.001) and PSQI (r=0.312, P=.039). “Pain Severity”ݠwas significantly higher in the “impaired sleep”ݠgroup (P