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Sjogren-Larsson syndrome (HSP-ALDH3A2) (SLS) is a rare autosomal recessive neurocutaneous disorder characterized by ichthyosis, spastic di-or tetraplegia and mental retardation, caused by an enzymatic ...doi:10.3390/life12020206 pmid:35207493 pmcid:PMC8875209 fatcat:6ccl2soebnfajgypsotcuy6ot4
Such a similar device was also proposed by Di Pino et al. (21) . A network of uniaxial accelerometers-four located on the upper limbs and four on the lower limbs was proposed by Patel et al. (15) . ... 1 S12 1 1 2 2 S13 1 1 2 1 S14 2 2 1 1 S1 3 3 2 2 S2 2 1 1 1 S3 1 0 1 0 S4 2 1 2 1 S5 1 1 1 1 S6 3 2 4 4 S7 1 0 1 0 S8 3 2 2 2 S9 2 1 1 1 S10 1 1 1 1 S11 2 1 1 0 S12 2 1 2 1 S13 1 1 1 1 S14 3 2 1 1 5 di ... Copyright © 2018 di Biase, Summa, Tosi, Taffoni, Marano, Cascio Rizzo, Vecchio, Formica, Di Lazzaro, Di Pino and Tombini. ...doi:10.3389/fneur.2018.00121 pmid:29568281 pmcid:PMC5853013 fatcat:vsbzzpzlmregnjqb4z2jjlwav4
Eugenio Guglielmelli and Vincenzo Di Lazzaro deeply revised the manuscript. All the authors checked and approved the final submitted version of the manuscript. ... Lazzaro et al., 2005) . ...doi:10.3389/fnsys.2014.00109 pmid:24966816 pmcid:PMC4052974 fatcat:uuqjvni2w5a6zbiemcoqbwtb64
Some of these protocols resemble those used for non-invasive brain stimulation based on repetitive transcranial magnetic stimulation [see Di Lazzaro and Rothwell (32) for a review]. ... Copyright © 2019 di Biase, Falato and Di Lazzaro. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). ...doi:10.3389/fneur.2019.00549 pmid:31244747 pmcid:PMC6579808 fatcat:k4jbi36ntbfyrkx52yfwgpf5n4
Acute dystonic reactions following the administration of safe, reliable drugs can occur and must be promptly recognized and treated in the emergency room. The entire clinical course of an acute dystonic reaction due to metoclopramide, from early motor signs to full-blown clinical symptoms and resolution. Providing elements for early recognition of a drug-induced movement disorder phenomenology.doi:10.7916/d87p8zs1 pmid:28105387 pmcid:PMC5233782 fatcat:u4ehtdjyp5fadgcchklunatt3i
Chronic pain is one of the leading causes of disability and disease burden worldwide, accounting for a prevalence between 6.9% and 10% in the general population. Pharmacotherapy alone results ineffective in about 70-60% of patients in terms of a satisfactory degree of pain relief. Focused ultrasound is a promising tool for chronic pain management, being approved for thalamotomy in chronic neuropathic pain and for bone metastases-related pain treatment. FUS is a noninvasive technique fordoi:10.1155/2021/8438498 fatcat:7gbcjp534bgy7lwl5r67yhdmiu
more »... ulation and for tissue ablation that can be applied to several tissues. Transcranial FUS (tFUS) can lead to opposite biological effects, depending on stimulation parameters: from reversible neural activity facilitation or suppression (low-intensity, low-frequency ultrasound, LILFUS) to irreversible tissue ablation (high-intensity focused ultrasounds, HIFU). HIFU is approved for thalamotomy in neuropathic pain at the central nervous system level and for the treatment of facet joint osteoarthritis at the peripheral level. Potential applications include HIFU at the spinal cord level for selected cases of refractory chronic neuropathic pain, knee osteoarthritis, sacroiliac joint disease, intervertebral disc nucleolysis, phantom limb, and ablation of peripheral nerves. FUS at nonablative dosage, LILFUS, has potential reversible and tissue-selective effects. FUS applications at nonablative doses currently are at a research stage. The main potential applications include targeted drug and gene delivery through the Blood-Brain Barrier, assessment of pain thresholds and study of pain, and reversible peripheral nerve conduction block. The aim of the present review is to describe the approved and potential applications of the focused ultrasound technology in the field of chronic pain management.
The aim of this review is to summarize that most relevant technologies used to evaluate gait features and the associated algorithms that have shown promise to aid diagnosis and symptom monitoring in Parkinson's disease (PD) patients. We searched PubMed for studies published between 1 January 2005, and 30 August 2019 on gait analysis in PD. We selected studies that have either used technologies to distinguish PD patients from healthy subjects or stratified PD patients according to motor statusdoi:10.3390/s20123529 pmid:32580330 fatcat:c3ajfkdb3nctvdbmyhpiinq66i
more »... disease stages. Only those studies that reported at least 80% sensitivity and specificity were included. Gait analysis algorithms used for diagnosis showed a balanced accuracy range of 83.5–100%, sensitivity of 83.3–100% and specificity of 82–100%. For motor status discrimination the gait analysis algorithms showed a balanced accuracy range of 90.8–100%, sensitivity of 92.5–100% and specificity of 88–100%. Despite a large number of studies on the topic of objective gait analysis in PD, only a limited number of studies reported algorithms that were accurate enough deemed to be useful for diagnosis and symptoms monitoring. In addition, none of the reported algorithms and technologies has been validated in large scale, independent studies.
Our review shows that, despite evidence for both reliable neurophysiological markers of specific oscillatory dis-functionalities in neurological disorders and NIBS protocols potentially able to interact ... Lazzaro et al., 2006) and the other a cerebral cortex atrophy due alcohol abuse (Di Lazzaro et al., 2004b ; Figure 2 ). ... For example, if the modulation of a target cortex is the objective, TMS can be declined in its repetitive paradigms (see e.g., Di Lazzaro et al., 2011). ...doi:10.3389/fnagi.2017.00189 pmid:28659788 pmcid:PMC5468377 fatcat:z5u3ja56kbanbcc3ixepqzxhxy
., 2006; Reilly and Sirigu, 2008; Di Pino et al., 2009; Kikkert et al., 2019) . ... anesthesia where two intraneural multichannel electrodes (ds-FILEs) and one cuff electrode (Ardiem Medical Inc.) were implanted in the ulnar nerve trunk, and the same was done in the median nerve trunk Di ...doi:10.3389/fnins.2020.00389 pmid:32477046 pmcid:PMC7232597 fatcat:2f5rogqgpfgi7nvri7vzfqpmmm
In a subgroup of 7 females and 8 males we measured the stroke volume using the procedure described in Di Lazzaro et al. (2010) . ... Lazzaro et al., 2010 , 2014 . ...doi:10.3389/fnins.2016.00010 pmid:26858590 pmcid:PMC4731507 fatcat:yndsana72nbohpenivjvq7gus4
Fatigue is very common in multiple sclerosis (MS) and is often considered as its most disabling symptom. Over the last 20 years, an increasing number of studies have evaluated the pathogenetic bases of MS-related fatigue. Converging evidence from neurophysiology and neuroimaging research suggests that a dysfunction in a cortico-subcortical pathway, centered on thalamus, is involved in the pathogenesis of fatigue. However, type and significance of such dysfunction remain unknown, and somedoi:10.1177/1352458519851247 pmid:31138052 fatcat:ijepq5qs5vfbnn2saibb3wfmuy
more »... reported an increase in the activity and connectivity within the thalamic network, whereas others suggested its reduction. Hereby, we review the results of neuroimaging studies supporting the different hypotheses about the role of thalamic network in the pathophysiology of MS-related fatigue and discuss limitations and shortcomings of available data, highlighting the key challenges in the field and the directions for future research.
à These authors contributed equally to this work. See Vidailhet et al. (doi:10.1093/brain/awx140) for a scientific commentary on this article. Misdiagnosis among tremor syndromes is common, and can impact on both clinical care and research. To date no validated neurophysiological technique is available that has proven to have good classification performance, and the diagnostic gold standard is the clinical evaluation made by a movement disorders expert. We present a robust newdoi:10.1093/brain/awx104 pmid:28459950 pmcid:PMC5493195 fatcat:c7rg77opdzc3doaskhpyihlpse
more »... measure, the tremor stability index, which can discriminate Parkinson's disease tremor and essential tremor with high diagnostic accuracy. The tremor stability index is derived from kinematic measurements of tremulous activity. It was assessed in a test cohort comprising 16 rest tremor recordings in tremor-dominant Parkinson's disease and 20 postural tremor recordings in essential tremor, and validated on a second, independent cohort comprising a further 55 tremulous Parkinson's disease and essential tremor recordings. Clinical diagnosis was used as gold standard. One hundred seconds of tremor recording were selected for analysis in each patient. The classification accuracy of the new index was assessed by binary logistic regression and by receiver operating characteristic analysis. The diagnostic performance was examined by calculating the sensitivity, specificity, accuracy, likelihood ratio positive, likelihood ratio negative, area under the receiver operating characteristic curve, and by cross-validation. Tremor stability index with a cut-off of 1.05 gave good classification performance for Parkinson's disease tremor and essential tremor, in both test and validation datasets. Tremor stability index maximum sensitivity, specificity and accuracy were 95%, 95% and 92%, respectively. Receiver operating characteristic analysis showed an area under the curve of 0.916 (95% confidence interval 0.797-1.000) for the test dataset and a value of 0.855 (95% confidence interval 0.754-0.957) for the validation dataset. Classification accuracy proved independent of recording device and posture. The tremor stability index can aid in the differential diagnosis of the two most common tremor types. It has a high diagnostic accuracy, can be derived from short, cheap, widely available and non-invasive tremor recordings, and is independent of operator or postural context in its interpretation. Abbreviations: AUC = area under the curve; MHP = mean harmonic power of tremor; ROC = receiver operating characteristic; SWEDD = scans without evidence of dopaminergic deficit; TSI = Tremor Stability Index
doi:10.1136/jnnp-2013-306637 pmid:24623793 fatcat:4plq7da7incldibmpikddxmelu
Radial neck fractures in children are rare, representing 5% of all elbow pediatric fractures. Most are minimally displaced or nondisplaced. Severely displaced or angulated radial neck fractures often have poor outcomes, even after open reduction, and case series reported in literature are limited. The aim of the study is to analyze the outcomes of patients with a completely displaced and angulated fracture who underwent open reduction when closed reduction failed. Methods: Between 2000 anddoi:10.1097/bpo.0000000000000299 pmid:25171679 pmcid:PMC4222803 fatcat:o66rpy5vnvayvhxjdsbtaj5l7y
more »... 195 patients with radial neck fractures were treated in our institute. Twenty-four cases satisfied all the inclusion criteria and were evaluated clinically and radiologically at a mean follow-up of 7 years. At follow-up, the carrying angle in full elbow extension and the range of motion of the elbow and forearm were measured bilaterally. We recorded clinical results as good, fair, or poor according to the range of movement and the presence of pain. Radiographic evaluation documented the size of the radial head, the presence of avascular necrosis, premature physeal closure, and cubitus valgus. Results: Statistical analysis showed that fair and poor results are directly correlated with loss of pronation-supination (P = 0.001), reduction of elbow flexion-extension (P = 0.001), increase of elbow valgus angle (P = 0.002), necrosis of the radial head (P = 0.001), premature physeal closure (P = 0.01), and associated lesions (olecranon fracture with or without dislocation of the elbow) (P = 0.002). Discussion: In our cases, residual radial head deformity due to premature closure of the growth plate and avascular necrosis were correlated with a functional deficit. Associated elbow injury was coupled with a negative prognosis. In our series, about 25% of patients had fair and 20% had poor results. Outcomes were good in 55% and felt to represent a better outcome than if the fracture remained nonanatomically reduced with residual angulation and/or displacement of the radial head. This study reports the largest series of these fractures with a combination of significant angulation and displacement of the fracture requiring open reduction. We feel that open reduction is indicated when the head of the radius is completely displaced and without contact with the rim of the metaphysis.
Giovanni Assenza, Vincenzo Di Lazzaro * Institute of Neurology, Campus Bio-Medico University of Rome, Rome, Italy Figure 1 Delta waves and brain plasticity. ... This method has been shown to transiently increase cortical excitability for up to 30 minutes after administration (Di Pino et al., 2014) . ...doi:10.4103/1673-5374.162698 pmid:26487841 pmcid:PMC4590226 fatcat:uachi7w3bbfoljd2oz34uyo3tq
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