1,721,231 research outputs found
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.
No full textMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.4) due to mutations in the nuclear gene TYMP. TP deficiency leads to plasma and tissue accumulations of thymidine and deoxyuridine which generate imbalances within the mitochondrial nucleotide pools, ultimately leading to mitochondrial dysfunction.1 MNGIE is characterized clinically by leukoencephalopathy, external ophthalmoplegia, peripheral polyneuropathy, cachexia, and enteric neuromyopathy manifesting as gastrointestinal dysmotility. The condition is relentlessly progressive, with patients usually dying from a combination of nutritional and neuromuscular failure at an average age of 37 years.2 Allogeneic hematopoietic stem cell transplantation (AHSCT) offers a permanent cure. Clinical and biochemical improvements following AHSCT have been reported but it carries a high mortality risk and is limited by matched donor availability.3 A consensus proposal for standardizing AHSCT recommends treatment of patients without irreversible end-stage disease and with an optimally matched donor; a majority of patients are ineligible and thus there is a critical requirement for an alternative treatment
Modulation of motor excitability induced by action observation in stroke patients
No full textAction observation activates the same motor areas as those involved in the performance of the observed actions and promotes
functional recovery following stroke. Movement observation is now considered a promising tool for motor rehabilitation, by
allowing patients to train their motor functions when voluntarymovement is partially impaired.We asked chronic-stroke patients,
affected by either left (LHD) or right hemisphere (RHD) lesions, to observe either a left or right hand, while grasping a small target
(eliciting a precision grip) or a large target (eliciting a whole hand grasp directed towards a target object). To better understand
the effects of action observation on damaged motor circuits, we used transcranial magnetic stimulation (TMS) to induce motor
evoked potentials (MEP) from two muscles of the unaffected hand in 10 completely hemiplegic participants. Results revealed that
LHD patients showed MEP facilitation on the right (contralesional) M1 during action observation of hand-object interactions. In
contrast, results showed no facilitation of the left (contralesional) M1 in RHD patients. Our results confirm that action observation
might have a positive influence on the recovery of motor functions after stroke. Activating the motor system by means of action
observation might provide a mechanism for improving function, at least in LHD patients
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: A simple test to identify this condition
No full textAcquired isolated unilateral or bilateral blepharoptosis has many aetiologies. When the pupils are normal, a myasthenic syndrome or myopathy has to be ruled out. If the tests for myasthenia gravis are negative, the next step is to perform a muscle biopsy to establish a diagnosis. Muscle examination may show a mitochondrial disorder, non-specific abnormalities or be quite normal. We identified three patients, who had previously undergone various investigations, including a muscle biopsy, whose lid ptosis disappeared using eye drops containing naphazoline nitrate, a sympathomimetic drug, thus suggesting partial Horner's syndrome. We emphasise the usefulness of this simple and cheap test before performing more traumatic and expensive investigations
Correction to: Combined botulinum toxin type A and electrical stimulation in individuals with C5-C6 and C6-C7 tetraplegia: a pilot study (Spinal Cord Series and Cases, (2020), 6, 1, (70), 10.1038/s41394-020-0317-2)
No full textThe original version of this Article contained an error in the spelling of the authors Francesco Piccione, Paolo Tonin, Antonio Cerasa and Stefano Masiero, which were incorrectly given as Piccione Francesco, Tonin Paolo, Cerasa Antonio, and Masiero Stefano, respectively. This has now been corrected in both the PDF and HTML versions of the Article
Effectiveness of intensive neurorehabilitation in obese subacute stroke patients
No full textThe relationship between abdominal subcutaneous adipose tissue thickness (aSAT), body fat percentage (BFP), waist-to-hip ratio (WHR) and body mass index (BMI) and outcome measures of neurological deficit and functional recovery was evaluated in obese sub-acute stroke patients before and after neurorehabilitation. Decreased National Institutes of Health Stroke Scale (p = 0.0001) and modified Rankin Scale (mRS) (p = 0.002) scores, as well as increased Barthel Index (p = 0.0001) scores were detected after neurorehabilitation. Decreased BMI, aSAT, BFP and WHR observed after neurorehabilitation did not penalize the overall functional recovery as shown by correlations between the clinical measure scores and fat mass indices. The correlation observed after neurorehabilitation between BMI and mRS (rho = 0.4526, p < 0.05) suggests that a high BMI may compromise functional recovery. Monitoring of body fat mass indices may provide information aimed at improving the disability of obese stroke patients
Electrophysiological correlates of virtual-reality applications in the rehabilitation setting: New perspectives for stroke patients
Full text linkHere we reviewed the last evidence on the application of electroencephalography (EEG) as a non-invasive and portable neuroimaging method useful to extract hallmarks of neuroplasticity induced by virtual reality (VR) rehabilitation approaches in stroke patients. In the neurorehabilitation context, VR training has been used extensively to hamper the effects of motor treatments on the stroke’s brain. The concept underlying VR therapy is to improve brain plasticity by engaging users in multisensory training. In this narrative review, we present the key concepts of VR protocols applied to the rehabilitation of stroke patients and critically discuss challenges of EEG signal when applied as endophenotype to extract neurophysiological markers. When VR technology was applied to magnify the effects of treatments on motor recovery, significant EEG-related neural improve-ments were detected in the primary motor circuit either in terms of power spectral density or as time-frequency domains
Combined botulinum toxin type A and electrical stimulation in individuals with C5–C6 and C6–C7 tetraplegia: a pilot study
Full text linkStudy design: Single-blind pilot study. Objectives: (1) To evaluate combined BoNT-A injection of spastic antagonistic muscles and ES of wrist extensors in order to improve hand function in incomplete cervical SCI patients. (2) To identify prognostic indicators of hand improvements, as a function of motor levels of injury. Setting: Ten incomplete asymmetric SCI tetraplegics admitted to San Camillo Hospital (Venezia, Italy), who were not able to perform automatic grasping, were enrolled in the study. A better motor level (BML) C6–C7 and worse motor level (WML) C5–C6 were assigned to take into account asymmetric motor strength. Methods: Administration of 100–200 UI BoNT-A per limb into flexor carpi radialis (FCR), extensor digitorum communis (EDC), brachial biceps (BB), and pectoralis major (PM) was performed. This was in conjunction with 6 weeks of 30-min ES sessions repeated three times a day for 6 days a week in wrist extensor muscles, and 6 weeks of 30-min hand rehabilitation for 6 days a week. Assessments included wrist Range of Motion (w-RoM), Modified Ashworth Score (MAS), Functional Independence Measure motor scores (FIM motor), and Nine Hole Peg Test (NHPT). Results: Treatments produced a significant reduction in motor spasticity (MAS) and better dexterity (NHPT) in the C6–C7 BML with respect to the WML cases (p level = 0.007; p = 0.01, respectively). FIM motor scores improved more in BML (median: 20; range 20/22) than in WML (median: 10; range 8/17). Conclusions: Hand function improvement, determined by combined BONT-A and ES, was better in C6–C7 than in C5–C6 SCI patients
The effectiveness of reinforced feedback in virtual environment in the first 12 months after stroke
No full textBackground and purpose: Reinforced feedback in virtual environment (RFVE) therapy is emerging as an innovative
method in rehabilitation, which may be advantageous in the treatment of the affected arm after stroke. The purpose of this study was to investigate the impact of assisted motor training in a virtual environment for the treatment of the upper extremity (UE) after stroke compared to traditional neuromotor rehabilitation (TNR), studying also if differences exist related to the type of stroke (haemorrhagic or ischaemic). Material and methods: Eighty patients affected by a stroke (48 ischaemic and 32 haemorrhagic) that occurred at least 1 year before were enrolled. The clinical assessment comprising the Fugl-Meyer UE (F-M UE), modified Ashworth (Bohannon & Smith) and Functional Independence Measure scale (FIM) was administered before and after the treatment. Results: A statistically significant difference between RFVE and TNR groups (Mann-Whitney U-test) was observed in the clinical outcomes of F-M UE and FIM (both p < 0.001), but not Ashworth (p = 0.053). The outcomes of F-M UE
and FIM improved in the RFVE haemorrhagic group and in the TNR haemorrhagic group with a significant difference between groups (both p < 0.001), but not for Ashworth (p = 0.651). Comparing the RFVE ischaemic group to the TNR ischaemic group, statistically significant differences emerged in F-M UE (p < 0.001), FIM (p < 0.001), and Ashworth (p = 0.036). Conclusions: The RFVE therapy in combination with TNR showed better improvements compared to the TNR treatment only. The RFVE therapy combined with the TNR treatment was more effective than the TNR double training, in both postischaemic and post-haemorrhagic groups. We observed improvements in both groups of patients: post-haemorrhagic and post-ischaemic stroke after RFVE training
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