9 research outputs found

    Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach

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    BACKGROUND: Autism spectrum disorder (ASD) is a set of developmental conditions with widespread neuroanatomical abnormalities and a strong genetic basis. Although neuroimaging studies have indicated anatomical changes in grey matter (GM) morphometry, their associations with gene expression remain elusive. METHODS: Here, we aim to understand how gene expression correlates with neuroanatomical atypicalities in ASD. To do so, we performed a coordinate-based meta-analysis to determine the common GM variation pattern in the autistic brain. From the Allen Human Brain Atlas, we selected eight genes from the SHANK, NRXN, NLGN family and MECP2, which have been implicated with ASD, particularly in regards to altered synaptic transmission and plasticity. The gene expression maps for each gene were built. We then assessed the correlation between the gene expression maps and the GM alteration maps. Lastly, we projected the obtained clusters of GM alteration-gene correlations on top of the canonical resting state networks, in order to provide a functional characterization of the structural evidence. RESULTS: We found that gene expression of most genes correlated with GM alteration (both increase and decrease) in regions located in the default mode network. Decreased GM was also correlated with gene expression of some ASD genes in areas associated with the dorsal attention and cerebellar network. Lastly, single genes were found to be significantly correlated with increased GM in areas located in the somatomotor, limbic and ganglia/thalamus networks. CONCLUSIONS: This approach allowed us to combine the well beaten path of genetic and brain imaging in a novel way, to specifically investigate the relation between gene expression and brain with structural damage, and individuate genes of potential interest for further investigation in the functional domain

    Carbon nanotube composite coating of neural microelectrodes preferentially improves the multiunit signal-to-noise ratio

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    Extracellular metal microelectrodes are widely used to record single neuron activity in vivo. However, their signal-to-noise ratio (SNR) is often far from optimal due to their high impedance value. It has been recently reported that carbon nanotube (CNT) coatings may decrease microelectrode impedance, thus improving their performance. To tease out the different contributions to SNR of CNT-coated microelectrodes we carried out impedance and noise spectroscopy measurements of platinum/tungsten microelectrodes coated with a polypyrrole-CNT composite. Neuronal signals were recorded in vivo from rat cortex by employing tetrodes with two recording sites coated with polypyrrole-CNT and the remaining two left untreated. We found that polypyrrole-CNT coating significantly reduced the microelectrode impedance at all neuronal signal frequencies (from 1 to 10 000 Hz) and induced a significant improvement of the SNR, up to fourfold on average, in the 150-1500 Hz frequency range, largely corresponding to the multiunit frequency band. An equivalent circuit, previously proposed for porous conducting polymer coatings, reproduced the impedance spectra of our coated electrodes but could not explain the frequency dependence of SNR improvement following polypyrrole-CNT coating. This implies that neither the neural signal amplitude, as recorded by a CNT-coated metal microelectrode, nor noise can be fully described by the equivalent circuit model we used here and suggests that a more detailed approach may be needed to better understand the signal propagation at the electrode-solution interface. Finally, the presence of significant noise components that are neither thermal nor electronic makes it difficult to establish a direct relationship between the actual electrode noise and the impedance spectra

    Effects of robot-assisted gait training on postural instability in Parkinson's disease: a systematic review

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    INTRODUCTION: Postural instability is a cardinal feature of Parkinson's disease, together with rest tremor, rigidity and bradykinesia. It is a highly disabling symptom that becomes increasingly common with disease progression and represents a major source of reduced quality of life in patients with Parkinson's disease. Rehabilitation aims to enable patients with Parkinson's disease to maintain their maximum level of mobility, activity and independence. To date, a wide range of rehabilitation approaches has been employed to treat postural instability in Parkinson's disease, including robotic training. Our main aim was to conduct a systematic review of current literature about the effects of robot-assisted gait training on postural instability in patients with Parkinson's disease.EVIDENCE ACQUISITION: A systematic search using the following MeSH terms (Parkinson disease; postural balance; robotics; rehabilitation) and string {("robotics [mh]" OR "robot-assisted" OR "electromechanical") and ("rehabilitation [mh]" OR "training") and ("postural balance [mh]")} was conducted on PubMed, Cochrane Library and PEDro electronic databases. Full text articles in English published up to December 2020 were included. Data about patient characteristics, robotic devices, treatment procedures and outcome measures were considered. Every included article got checked for quality. Level of evidence was defined for all studies.EVIDENCE SYNTHESIS: Three authors independently extracted and verified data. In total, 18 articles (2 systematic reviews, 9 randomized controlled trials, 4 uncontrolled studies and 3 case series/case reports) were included. Both end-effector and exoskeleton devices were investigated as to robot-assisted gait training modalities. No clear relationship between treatment parameters and clinical conditions was observed. We found a high level of evidence about the effects of robot-assisted gait training on balance and freezing of gait in patients with Parkinson's disease.CONCLUSIONS: This systematic review provides to the reader a complete overview of current literature and levels of evidence about the effects of robot-assisted gait training on postural instability issues (static and dynamic balance, freezing of gait, falls, confidence in activities of daily living and gait parameters related to balance skills) in patients with Parkinson's disease

    What is the impact of robotic rehabilitation on balance and gait outcomes in people with multiple sclerosis? A systematic review of randomized control trials

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    INTRODUCTION: In recent years, robot-assisted gait training (RAGT) has been proposed as therapy for balance and gait dysfunctions in people with multiple sclerosis (PwMS). Through this systematic review, we aimed to discuss the impact of RAGT on balance and gait outcomes. Furthermore, characteristics of the training in terms of robots used, participants characteristics, protocols and combined therapeutic approaches have been described. EVIDENCE ACQUISITION: As part of the Italian Consensus on robotic rehabilitation ‚ÄúCICERONE‚ÄĚ a systematic search was provided in PubMed, the Cochrane Library and PEDro to identify relevant studies published before December 2019. Only randomized control trials (RCT) involving RAGT for PwMS were included. PEDro scale was used to assess the risk of bias and the Oxford Center for Evidence-Based Medicine (OCEBM) was used to assess level of evidence of included studies. EVIDENCE SYNTHESIS: The search on databases resulted in 336 records and, finally, 12 studies were included. RAGT was provided with Exoskeleton in ten studies (6-40 session, 2-5 per week) and with end-effector in two studies (12 sessions, 2-3 per week) with large variability in terms of participants‚Äô disability. All the exoskeletons were combined with bodyweight support treadmill and movement assistance varied from 0% to 100% depending on participants‚Äô disability, two studies combined exoskeleton with virtual reality. The end-effector speed ranged between 1.3 and 1.8 km/h, with bodyweight support starting from 50% and progressively reduced. In seven out of twelve studies RAGT was provided in a multimodal rehabilitation program or in combination with standard physical therapy. There is level 2 evidence that RAGT has positive impact in PwMS, reaching the minimally clinically importance difference in Berg Balance Scale, six-minute walking test and gait speed. CONCLUSIONS: In available RCT, RAGT is mostly provided with exoskeleton devices and improves balance and gait outcomes in a clinically meaningful way. Considering several advantages in terms of safety, motor assistance and intensity of training provided, RAGT should be promoted for PwMS with severe disability in a multimodal rehabilitation context as an opportunity to maximize recovery

    Balance Rehabilitation through Robot-Assisted Gait Training in Post-Stroke Patients: A Systematic Review and Meta-Analysis

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    Background: Balance impairment is a common disability in post-stroke survivors, leading to reduced mobility and increased fall risk. Robotic gait training (RAGT) is largely used, along with traditional training. There is, however, no strong evidence about RAGT superiority, especially on balance. This study aims to determine RAGT efficacy on balance of post-stroke survivors. Methods: PubMed, Cochrane Library, and PeDRO databases were investigated. Randomized clinical trials evaluating RAGT efficacy on post-stroke survivor balance with Berg Balance Scale (BBS) or Timed Up and Go test (TUG) were searched. Meta-regression analyses were performed, considering weekly sessions, single-session duration, and robotic device used. Results: A total of 18 trials have been included. BBS pre-post treatment mean difference is higher in RAGT-treated patients, with a pMD of 2.17 (95% CI 0.79; 3.55). TUG pre-post mean difference is in favor of RAGT, but not statistically, with a pMD of ‚ąí0.62 (95%CI ‚ąí 3.66; 2.43). Meta-regression analyses showed no relevant association, except for TUG and treatment duration (ő≤ = ‚ąí1.019, 95% CI ‚ąí 1.827; ‚ąí0.210, p-value = 0.0135). Conclusions: RAGT efficacy is equal to traditional therapy, while the combination of the two seems to lead to better outcomes than each individually performed. Robot-assisted balance training should be the focus of experimentation in the following years, given the great results in the first available trials. Given the massive heterogeneity of included patients, trials with more strict inclusion criteria (especially time from stroke) must be performed to finally define if and when RAGT is superior to traditional therapy

    Balance Rehabilitation through Robot-Assisted Gait Training in Post-Stroke Patients: A Systematic Review and Meta-Analysis

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    Background: Balance impairment is a common disability in post-stroke survivors, leading to reduced mobility and increased fall risk. Robotic gait training (RAGT) is largely used, along with traditional training. There is, however, no strong evidence about RAGT superiority, especially on balance. This study aims to determine RAGT efficacy on balance of post-stroke survivors. Methods: PubMed, Cochrane Library, and PeDRO databases were investigated. Randomized clinical trials evaluating RAGT efficacy on post-stroke survivor balance with Berg Balance Scale (BBS) or Timed Up and Go test (TUG) were searched. Meta-regression analyses were performed, considering weekly sessions, single-session duration, and robotic device used. Results: A total of 18 trials have been included. BBS pre-post treatment mean difference is higher in RAGT-treated patients, with a pMD of 2.17 (95% CI 0.79; 3.55). TUG pre-post mean difference is in favor of RAGT, but not statistically, with a pMD of ‚ąí0.62 (95%CI ‚ąí 3.66; 2.43). Meta-regression analyses showed no relevant association, except for TUG and treatment duration (ő≤ = ‚ąí1.019, 95% CI ‚ąí 1.827; ‚ąí0.210, p-value = 0.0135). Conclusions: RAGT efficacy is equal to traditional therapy, while the combination of the two seems to lead to better outcomes than each individually performed. Robot-assisted balance training should be the focus of experimentation in the following years, given the great results in the first available trials. Given the massive heterogeneity of included patients, trials with more strict inclusion criteria (especially time from stroke) must be performed to finally define if and when RAGT is superior to traditional therapy

    Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis: First report from the Italian registry of pediatric thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili)

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    reserved55noData from large case series of children with cerebral thrombotic events are pivotal to improve prevention, early recognition and treatment of these conditions. The Italian Registry of Pediatric Thrombosis (R. I. T. I.) was established in 2007 by a multidisciplinary team, aiming for a better understanding of neonatal and paediatric thrombotic events in Italy and providing a preliminary source of data for the future development of specific clinical trials and diagnostic-therapeutic protocols. We analysed data relative to the paediatric cerebral thrombotic events of the R. I. T. I. which occurred between January 2007 and June 2012. In the study period, 79 arterial ischaemic stroke (AIS) events (49 in males) and 91 cerebral sinovenous thrombosis (CSVT) events (65 in males) were enrolled in the R. I. T. I. Mean age at onset was 4.5 years in AIS, and 7.1 years in CSVT. Most common modes of presentation were hemiparesis, seizures and speech disturbances in AIS, and headache, seizures and lethargy in CSVT. Most common etiologies were underlying chronic diseases, vasculopathy and cardiopathy in AIS, and underlying chronic diseases and infection in CSVT. Time to diagnosis exceeded 24 hours in 46% AIS and 59% CSVT. Overall data from the Italian Registry are in substantial agreement with those from the literature, despite small differences. Among these, a longer time to diagnosis compared to other registries and case series poses the accent to the need of an earlier recognition of paediatric cerebrovascular events in Italy, in order to enable prompt and effective treatment strategies.mixedSuppiej A.; Gentilomo C.; Saracco P.; Sartori S.; Agostini M.; Bagna R.; Bassi B.; Giordano P.; Grassi M.; Guzzetta A.; Lasagni D.; Luciani M.; Molinari A.C.; Palmieri A.; Putti M.C.; Ramenghi L.A.; Rota L.L.; Sperli D.; Laverda A.M.; Simioni P.; Angriman M.; Aru A.B.; Barisone E.; Bartalena L.; Berta M.; Bertoni E.; Cancarini P.; Cavaliere E.; Celle M.E.; Cerbone A.M.; Cesaroni E.; Via L.D.; Dell'Oro M.G.; Di Rosa G.; Ferrari G.M.; Fiori S.; Gaffuri M.; Gallina M.R.; Gimmillaro A.; Grandone E.; Ladogana S.; Laforgia N.; La Piana R.; Maschio F.; Miniero R.; Nosadini M.; Panzeri D.; Petrucci A.; Piersigilli F.; Sala D.; Sangermani R.; Santoro N.; Tufano A.; Ventura G.; Vittorini R.Suppiej, A.; Gentilomo, C.; Saracco, P.; Sartori, S.; Agostini, M.; Bagna, R.; Bassi, B.; Giordano, P.; Grassi, M.; Guzzetta, A.; Lasagni, D.; Luciani, M.; Molinari, A. C.; Palmieri, A.; Putti, M. C.; Ramenghi, L. A.; Rota, L. L.; Sperli, D.; Laverda, A. M.; Simioni, P.; Angriman, M.; Aru, A. B.; Barisone, E.; Bartalena, L.; Berta, M.; Bertoni, E.; Cancarini, P.; Cavaliere, E.; Celle, M. E.; Cerbone, A. M.; Cesaroni, E.; Via, L. D.; Dell'Oro, M. G.; Di Rosa, G.; Ferrari, G. M.; Fiori, S.; Gaffuri, M.; Gallina, M. R.; Gimmillaro, A.; Grandone, E.; Ladogana, S.; Laforgia, N.; La Piana, R.; Maschio, F.; Miniero, R.; Nosadini, M.; Panzeri, D.; Petrucci, A.; Piersigilli, F.; Sala, D.; Sangermani, R.; Santoro, N.; Tufano, A.; Ventura, G.; Vittorini, R
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