Search

Background/PurposeHeart rate variability (HRV) is a biomarker of autonomic nervous system (ANS) reaction in persons with severe acquired brain injury (sABI) who undergo a rehabilitation treatment, such as focal muscle vibration (FMV).This study aims to evaluate if and how FMV can modulate HRV and to compare potential differences in FMV modulation in HRV between patients with sABI and healthy controls.Background/PurposeHeart rate variability (HRV) is a biomarker of autonomic nervous system (ANS) reaction in persons with severe acquired brain injury (sABI) who undergo a rehabilitation treatment, such as focal muscle vibration (FMV).This study aims to evaluate if and how FMV can modulate HRV and to compare potential differences in FMV modulation in HRV between patients with sABI and healthy controls.MethodsTen patients with sABI and seven healthy controls have been recruited. Each individual underwent the same stimulation protocol (four consecutive trains of vibration of 5 minutes each with a 1-minute pause). HRV was analyzed through the ratio of frequency domain heart-rate variability (LF/HF).ResultsIn the control group, after performing FMV, a significant LF/HF difference was observed in the in the second vibration session compared to the POST phase. Patients with SABI treated on the affected side showed a statistically significant LF/HF difference in the PRE compared to the first vibration session.ConclusionThese preliminary results suggest that FMV may modify the cardiac ANS activity in patients with sABI.

Background: This was a multicenter, double-blind, randomized clinical trial to investigate the efficacy of electrical stimulation of denervated muscle (ESDM) on recovery of patients with peripheral nerve injuries. Methods: We enrolled 38 patients with traumatic peripheral nerve injuries with axonal damage and clinical impairment of two muscles, who were randomly treated with real or sham electrical stimulation (ES). Clinical and neurophysiological examinations were performed before treatment, at the end of treatment, and 3 mo posttreatment, by the same physician who was blinded to the ES allocation. Results: All patients improved but there was no significant beneficial effect of ESDM compared with sham treatment. Conclusions: This study failed to demonstrate the efficacy of ESDM for peripheral nerve injuries. However, given the large number of variables related to ES and the heterogeneity in disease etiologies and clinical manifestations, future studies on homogeneous populations using different stimulation protocols may be useful.

No abstract

Peripheral neuropathy in mitochondrial diseases (MDsBACKGROUND AND PURPOSE: Peripheral neuropathy in mitochondrial diseases (MDs) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients. METHODS: To investigate the involvement of the peripheral nervous system in MDs extensive electrophysiological studies were performed in 109 patients with morphological, biochemical and genetic diagnosis of MD [12 A3243G progressive external ophthalmoplegia (PEO)/mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), 16 myoclonic epilepsy with ragged-red fibres (MERRF), four mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), 67 PEO with single or multiple deletions of mitochondrial DNA, 10 others]. RESULTS: A neuropathy was found in 49 patients (45%). The incidence was very high in MNGIE (100%), MELAS (92%) and MERRF (69%), whilst 28% of PEO patients had evidence of peripheral involvement. The most frequent abnormality was a sensory axonal neuropathy found in 32/49 patients (65%). A sensory-motor axonal neuropathy was instead detected in 16% of the patients and sensory-motor axonal demyelinating neuropathy in 16%. Finally one Leigh patient had a motor axonal neuropathy. It is interesting to note that the great majority had preserved tendon reflexes and no sensory disturbances. CONCLUSIONS: In conclusion, peripheral involvement in MD is frequent even if often mild or asymptomatic. The correct identification and characterization of peripheral neuropathy through electrophysiological studies represents another tile in the challenge of MD diagnosis.) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients.

N/A

The objective of the study was to better characterize the clinical phenotype associated with the A8344G "MERRF" mutation of mitochondrial DNA. Fifteen mutated patients were extensively investigated. The frequency of main clinical features was: exercise intolerance and/or muscle weakness 67 %, respiratory involvement 67 %, lactic acidosis 67 %, cardiac abnormalities 53 %, peripheral neuropathy 47 %, myoclonus 40 %, epilepsy 40 %, ataxia 13 %. A restrictive respiratory insufficiency requiring ventilatory support was observed in about half of our patients. One patient developed a severe and rapidly progressive cardiomyopathy requiring cardioverter-defibrillator implantation. Five patients died of overwhelming, intractable lactic acidosis. Serial muscle MRIs identified a consistent pattern of muscle involvement and progression. Cardiac MRI showed non-ischemic late gadolinium enhancement in the left ventricle inferolateral part as early sign of myocardial involvement. Brain spectroscopy demonstrated increased peak of choline and reduction of N-acetylaspartate. Lactate was never detected in brain areas, while it could be documented in ventricles. We confirm that muscle involvement is the most frequent clinical feature associated with A8443G mutation. In contrast with previous reports, however, about half of our patients did not develop signs of CNS involvement even in later stages of the disease. The difference may be related to the infrequent investigation of A8344G mutation in 'pure' mitochondrial myo-cardiomyopathy, representing a bias and a possible cause of syndrome's underestimation. Our study highlights the importance of lactic acidosis and respiratory muscle insufficiency as critical prognostic factors. Muscle and cardiac MRI and brain spectroscopy may be useful tools in diagnosis and follow-up of MERRF.

No abstract available.

Creutzfeldt-Jakob disease manifesting as stroke mimic in a 78-year-old patient: Pitfalls and tips in the diagnosis

No abstract available