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Brain Sci., Volume 11, Issue 6 (June 2021) – 153 articles

Cover Story (view full-size image): Multiple sclerosis (MS) is an immune-mediated, inflammatory disease of the central nervous system. The health-related quality of life of persons with MS (PwMS) is often reduced. Fatigue and depression contribute to the impaired health-related quality of life of PwMS. Beyond that, fatigue, depression and health-related quality of life overlap, and their interrelations are complex and have been rarely examined together up to now. In this longitudinal study, we apply path analysis and show that the effect of non-somatic depressive symptomatology on health-related quality of life is fully mediated and, therefore, explainable by an indirect effect via fatigue in PwMS. All three fatigue subscales (physical, psychosocial and cognitive fatigue) mediate this relation between depression and health-related quality of life. View this paper
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Article
Relationship Satisfaction in People with Parkinson’s Disease and Their Caregivers: A Cross-Sectional Observational Study
Brain Sci. 2021, 11(6), 822; https://doi.org/10.3390/brainsci11060822 - 21 Jun 2021
Viewed by 522
Abstract
Parkinson’s disease (PD) is a neurodegenerative disorder, which leads to reduced health-related quality of life (HR-QoL) and autonomy in advanced stages of the disease. Hence, people with PD (PwPD) are in need of help, which is often provided by informal caregivers, especially spouses. [...] Read more.
Parkinson’s disease (PD) is a neurodegenerative disorder, which leads to reduced health-related quality of life (HR-QoL) and autonomy in advanced stages of the disease. Hence, people with PD (PwPD) are in need of help, which is often provided by informal caregivers, especially spouses. This might influence the relationship satisfaction in patients and their spousal caregivers. Additionally, previous studies have shown that a reduced relationship satisfaction may result in mental disorders and reduced physical health. The aim of this study is to identify factors influencing PwPD and their caregivers’ relationship satisfaction in a cross-sectional observational study. Analyses revealed an overall satisfying relationship, measured by the Quality of Marriage Index, in PwPD (n = 84) and their caregivers (n = 79). Relationship satisfaction in PwPD mildly decreased with reduced HR-QoL and more severe depressive symptoms. Reduced relationship satisfaction in caregivers was significantly associated with decreased HR-QoL, higher caregiver burden, more severe depressive symptoms and increased neuropsychiatric symptoms in PwPD. Further studies are needed to investigate the influence of the identified factors over time and if relationship satisfaction has a reciprocal impact on caregiver burden, HR-QoL as well as mental and physical health. Full article
(This article belongs to the Special Issue Caregiver Burden in Movement Disorders and Neurodegenerative Diseases)
Article
Adults Do Not Distinguish Action Intentions Based on Movement Kinematics Presented in Naturalistic Settings
Brain Sci. 2021, 11(6), 821; https://doi.org/10.3390/brainsci11060821 - 21 Jun 2021
Viewed by 465
Abstract
Predicting others’ actions is an essential part of acting in the social world. Action kinematics have been proposed to be a cue about others’ intentions. It is still an open question as to whether adults can use kinematic information in naturalistic settings when [...] Read more.
Predicting others’ actions is an essential part of acting in the social world. Action kinematics have been proposed to be a cue about others’ intentions. It is still an open question as to whether adults can use kinematic information in naturalistic settings when presented as a part of a richer visual scene than previously examined. We investigated adults’ intention perceptions from kinematics using naturalistic stimuli in two experiments. In experiment 1, thirty participants watched grasp-to-drink and grasp-to-place movements and identified the movement intention (to drink or to place), whilst their mouth-opening muscle activity was measured with electromyography (EMG) to examine participants’ motor simulation of the observed actions. We found anecdotal evidence that participants could correctly identify the intentions from the action kinematics, although we found no evidence for increased activation of their mylohyoid muscle during the observation of grasp-to-drink compared to grasp-to-place actions. In pre-registered experiment 2, fifty participants completed the same task online. With the increased statistical power, we found strong evidence that participants were not able to discriminate intentions based on movement kinematics. Together, our findings suggest that the role of action kinematics in intention perception is more complex than previously assumed. Although previous research indicates that under certain circumstances observers can perceive and act upon intention-specific kinematic information, perceptual differences in everyday scenes or the observers’ ability to use kinematic information in more naturalistic scenes seems limited. Full article
(This article belongs to the Special Issue Human Intention in Motor Cognition)
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Article
Body Odours Sampled at Different Body Sites in Infants and Mothers—A Comparison of Olfactory Perception
Brain Sci. 2021, 11(6), 820; https://doi.org/10.3390/brainsci11060820 - 21 Jun 2021
Viewed by 443
Abstract
Body odours and their importance for human chemical communication, e.g., in the mother–child relationship, are an increasing focus of recent research. Precise examination of sampling methods considering physiology and feasibility aspects in order to obtain robust and informative odour samples is therefore necessary. [...] Read more.
Body odours and their importance for human chemical communication, e.g., in the mother–child relationship, are an increasing focus of recent research. Precise examination of sampling methods considering physiology and feasibility aspects in order to obtain robust and informative odour samples is therefore necessary. Studies comparing body odour sampling at different body sites are still pending. Therefore, we sampled axilla, breast, and head odour from 28 mother–infant dyads and examined whether odour perception differs with regard to the body site. The participating mothers were asked to evaluate their own and their infant’s body odour samples, as well as odours of two unfamiliar mother–infant dyads. We tested whether maternal pleasantness and intensity evaluation, as well as recognition ability of the odours differed between the body sites. In infants, the head odour exhibited slightly lower pleasantness ratings than axilla and breast, and intensity ratings did not differ between body sites. In mothers, body site affected intensity ratings but not pleasantness ratings, as the breast odour was rated as less intense compared with head and axilla. Across all body sites, mothers rated the own and their infant’s odour as less intense when compared with unfamiliar samples. Recognition ability did not differ between body sites, and in line with previous studies, mothers were able to recognize their own and their own infant’s odour above chance. In sum, our study extends the previous methodological repertoire of body odour sampling and indicates that the axilla, breast, and head of adults as well as infants serve as informative odour sources. Full article
(This article belongs to the Special Issue Advances in Human Olfactory Perception)
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Article
Self-Boundary Dissolution in Meditation: A Phenomenological Investigation
Brain Sci. 2021, 11(6), 819; https://doi.org/10.3390/brainsci11060819 - 21 Jun 2021
Viewed by 581
Abstract
A fundamental aspect of the sense of self is its pre-reflective dimension specifying the self as a bounded and embodied knower and agent. Being a constant and tacit feature structuring consciousness, it eludes robust empirical exploration. Recently, deep meditative states involving global dissolution [...] Read more.
A fundamental aspect of the sense of self is its pre-reflective dimension specifying the self as a bounded and embodied knower and agent. Being a constant and tacit feature structuring consciousness, it eludes robust empirical exploration. Recently, deep meditative states involving global dissolution of the sense of self have been suggested as a promising path for advancing such an investigation. To that end, we conducted a comprehensive phenomenological inquiry into meditative self-boundary alteration. The induced states were systematically characterized by changes in six experiential features including the sense of location, agency, first-person perspective, attention, body sensations, and affective valence, as well as their interaction with meditative technique and overall degree of dissolution. Quantitative analyses of the relationships between these phenomenological categories highlighted a unitary dimension of boundary dissolution. Notably, passive meditative gestures of “letting go”, which reduce attentional engagement and sense of agency, emerged as driving the depth of dissolution. These findings are aligned with an enactive approach to the pre-reflective sense of self, linking its generation to sensorimotor activity and attention-demanding processes. Moreover, they set the stage for future phenomenologically informed analyses of neurophysiological data and highlight the utility of combining phenomenology and intense contemplative training for a scientific characterization of processes giving rise to the basic sense of being a bounded self. Full article
(This article belongs to the Special Issue Brain Bases of Conscious Awareness and Self-Representation)
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Article
Foam Rolling Elicits Neuronal Relaxation Patterns Distinct from Manual Massage: A Randomized Controlled Trial
Brain Sci. 2021, 11(6), 818; https://doi.org/10.3390/brainsci11060818 - 20 Jun 2021
Viewed by 480
Abstract
The present double-blinded, randomized controlled study sought to compare the effects of a full-body manual massage (MM) and a foam rolling (FR) intervention on subjective and objective indexes of performance and well-being. A total of 65 healthy individuals were randomly allocated to an [...] Read more.
The present double-blinded, randomized controlled study sought to compare the effects of a full-body manual massage (MM) and a foam rolling (FR) intervention on subjective and objective indexes of performance and well-being. A total of 65 healthy individuals were randomly allocated to an FR, MM, or a control group who received a cognitively oriented relaxation routine. Self-report ratings of perceived anxiety, muscle relaxation, and muscle pain were used to index changes in affect and physical sensations. The sit-and-reach and toe-touch tests, as well as a mental calculation task, were used to index motor and cognitive performances, respectively. We also conducted resting-state electroencephalography and continuous skin conductance recordings before and after the experimental intervention. Both FR and MM groups exhibited neural synchronization of alpha and beta oscillations during the posttest. Skin conductance increased from the pretest to the posttest in the relaxation group, but decreased in the FR group. All interventions improved range of motion, although only the MM group outperformed the relaxation group for the toe-touch performance. MM was associated with reduced muscle pain and increased muscle relaxation. Reduced perceived anxiety after the intervention was observed in the FR group only. Overall, MM and FR both improved objective and subjective indexes of performance and well-being. Differences between the two massage interventions are discussed in relation to the effects of pressure stimulation on autonomic regulations and the proactive vs. retroactive nature of FR, compared to MM. Full article
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Article
Influence of Heart Rate Variability on Abstinence-Related Changes in Brain State in Everyday Drinkers
Brain Sci. 2021, 11(6), 817; https://doi.org/10.3390/brainsci11060817 - 20 Jun 2021
Viewed by 424
Abstract
Alcohol consumption is now common practice worldwide, and functional brain networks are beginning to reveal the complex interactions observed with alcohol consumption and abstinence. The autonomic nervous system (ANS) has a well-documented relationship with alcohol use, and a growing body of research is [...] Read more.
Alcohol consumption is now common practice worldwide, and functional brain networks are beginning to reveal the complex interactions observed with alcohol consumption and abstinence. The autonomic nervous system (ANS) has a well-documented relationship with alcohol use, and a growing body of research is finding links between the ANS and functional brain networks. This study recruited everyday drinkers in an effort to uncover the relationship between alcohol abstinence, ANS function, and whole brain functional brain networks. Participants (n = 29), 24–60 years-of-age, consumed moderate levels of alcohol regularly (males 2.4 (±0.26) drinks/day, females 2.3 (±0.96) drinks/day). ANS function, specifically cardiac vagal tone, was assessed using the Porges-Bohrer method for calculating respiratory sinus arrhythmia (PBRSA). Functional brain networks were generated from resting-state MRI scans obtained following 3-day periods of typical consumption and abstinence. A multi-task mixed-effects regression model determined the influences of HRV and drinking state on functional network connectivity. Results showed differences in the relationship between the strength of network connections and clustering coefficients across drinking states, moderated by PBRSA. Increases in connection strength between highly clustered nodes during abstinence as PBRSA increases demonstrates a greater possible range of topological configurations at high PBRSA values. This novel finding begins to shed light on the complex interactions between typical alcohol abstinence and physiological responses of the central and autonomic nervous system. Full article
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Systematic Review
The Paternal Brain in Action: A Review of Human Fathers’ fMRI Brain Responses to Child-Related Stimuli
Brain Sci. 2021, 11(6), 816; https://doi.org/10.3390/brainsci11060816 - 20 Jun 2021
Viewed by 465
Abstract
As fathers are increasingly involved in childcare, understanding the neurological underpinnings of fathering has become a key research issue in developmental psychobiology research. This systematic review specifically focused on (1) highlighting methodological issues of paternal brain research using functional magnetic resonance imaging (fMRI) [...] Read more.
As fathers are increasingly involved in childcare, understanding the neurological underpinnings of fathering has become a key research issue in developmental psychobiology research. This systematic review specifically focused on (1) highlighting methodological issues of paternal brain research using functional magnetic resonance imaging (fMRI) and (2) summarizing findings related to paternal brain responses to auditory and visual infant stimuli. Sixteen papers were included from 157 retrieved records. Sample characteristics (e.g., fathers’ and infant’s age, number of kids, and time spent caregiving), neuroimaging information (e.g., technique, task, stimuli, and processing), and main findings were synthesized by two independent authors. Most of the reviewed works used different stimuli and tasks to test fathers’ responses to child visual and/or auditory stimuli. Pre-processing and first-level analyses were performed with standard pipelines. Greater heterogeneity emerged in second-level analyses. Three main cortical networks (mentalization, embodied simulation, and emotion regulation) and a subcortical network emerged linked with fathers’ responses to infants’ stimuli, but additional areas (e.g., frontal gyrus, posterior cingulate cortex) were also responsive to infants’ visual or auditory stimuli. This review suggests that a distributed and complex brain network may be involved in facilitating fathers’ sensitivity and responses to infant-related stimuli. Nonetheless, specific methodological caveats, the exploratory nature of large parts of the literature to date, and the presence of heterogeneous tasks and measures also demonstrate that systematic improvements in study designs are needed to further advance the field. Full article
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Review
Contribution of the Cognitive Approach to Language Assessment to the Differential Diagnosis of Primary Progressive Aphasia
Brain Sci. 2021, 11(6), 815; https://doi.org/10.3390/brainsci11060815 - 19 Jun 2021
Viewed by 546
Abstract
Diagnosis of primary progressive aphasia (PPA) is essentially based on the identification of progressive impairment of language abilities while other cognitive functions are preserved. The three variants of PPA are characterized by core and supportive clinical features related to the presence or absence [...] Read more.
Diagnosis of primary progressive aphasia (PPA) is essentially based on the identification of progressive impairment of language abilities while other cognitive functions are preserved. The three variants of PPA are characterized by core and supportive clinical features related to the presence or absence of language impairment in different linguistic domains. In this article, we review the cognitive neuropsychological approach to the assessment of PPA and its contribution to the differential diagnosis of the three variants. The main advantage of this assessment approach is that it goes beyond the mere description and classification of clinical syndromes and identifies impaired and preserved cognitive and linguistic components and processes. The article is structured according to the main language domains: spoken production, language comprehension, and written language. Each section includes a brief description of the cognitive processes involved in the assessment tasks, followed by a discussion of typical characteristics for each PPA variant and common pitfalls in the interpretation of the results. In addition, the clinical benefit of the cognitive neuropsychological approach for the behavioral management of PPA is briefly sketched out in the conclusion. Full article
(This article belongs to the Special Issue Advances in Primary Progressive Aphasia)
Article
The Influence of Stimuli Valence and Arousal on Spatio-Temporal Representation of a Route
Brain Sci. 2021, 11(6), 814; https://doi.org/10.3390/brainsci11060814 - 19 Jun 2021
Viewed by 372
Abstract
This study assesses the influence of valence and arousal of element/landmarks along a route on the spatio-temporal representation of the route itself. Participants watched a movie of a virtual route containing landmarks with high arousal and positive (HP) or negative valence (HN), or [...] Read more.
This study assesses the influence of valence and arousal of element/landmarks along a route on the spatio-temporal representation of the route itself. Participants watched a movie of a virtual route containing landmarks with high arousal and positive (HP) or negative valence (HN), or landmarks with low arousal and positive (LP) or negative valence (LN). Afterwards, they had to (a) imagine walking distances between landmarks, (b) indicate the position of the landmarks along the route, (c) judge the spatial and temporal length of the route, and (d) draw the route. Results showed that the tasks were differentially influenced by the valence and arousal levels. Specifically, participants were more accurate in representing distances between positive, rather than negative, landmarks and in localizing positive high arousing landmarks. Moreover, the high arousing landmarks improved performance at the route drawing task. Finally, participants in the negative and low arousing conditions judged the route as being metrically and temporally longer than participants in positive and high arousing conditions. These results are interpreted in the light of theories about the effects of emotions on memory processes and the “feelings-as-information” theory. In brief, the results support the idea that representations of a route reflect a combination of cognitive and emotional processes. Full article
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Article
Mediating Effect of Burnout on the Association between Work-Related Quality of Life and Mental Health Symptoms
Brain Sci. 2021, 11(6), 813; https://doi.org/10.3390/brainsci11060813 - 19 Jun 2021
Cited by 1 | Viewed by 461
Abstract
The purpose of this study was: (1) to assess levels of burnout, work-related quality of life (WRQoL) and mental health symptoms among a sample of active workers living in Portugal; (2) to analyze differences in burnout, WRQoL and mental health symptoms by gender [...] Read more.
The purpose of this study was: (1) to assess levels of burnout, work-related quality of life (WRQoL) and mental health symptoms among a sample of active workers living in Portugal; (2) to analyze differences in burnout, WRQoL and mental health symptoms by gender and shift work; (3) to analyze association levels among all variables under study; (4) to determine the predictive effect of burnout and WRQoL on mental health symptoms; and (5) to assess the mediating effect of burnout on the association between WRQoL and mental health symptoms. Eight-hundred and forty-one Portuguese active workers between 18 and 67 years of age participated in this study (Mean = 37.23; SD = 11.99). Results showed that women participants scored higher in burnout and mental health symptoms, and lower in overall WRQoL, than men; additionally, participants who worked in shifts presented higher mental health symptoms. Significant correlations were found for all variables and regression analysis demonstrated that 56% of the overall variance of mental health symptoms was explained by older age, shift work, lower WRQoL, and burnout (exhaustion and cognitive impairment). Finally, the mediation effect of burnout on the association between WRQoL and mental health symptoms was statistically significant. These findings are useful for health professionals and health managers who work in the field of occupational health in identifying variables affecting burnout, WRQoL and mental health symptoms. Full article
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Article
All-Trans Retinoic Acid Fosters the Multifarious U87MG Cell Line as a Model of Glioblastoma
Brain Sci. 2021, 11(6), 812; https://doi.org/10.3390/brainsci11060812 - 18 Jun 2021
Viewed by 548
Abstract
Glioblastoma multiforme (GBM) is a primary brain cancer of poor prognosis, with existing treatments remaining essentially palliative. Current GBM therapy fails due to rapid reappearance of the heterogeneous neoplasm, with models suggesting that the recurrent growth is from treatment-resistant glioblastoma stem-like cells (GSCs). [...] Read more.
Glioblastoma multiforme (GBM) is a primary brain cancer of poor prognosis, with existing treatments remaining essentially palliative. Current GBM therapy fails due to rapid reappearance of the heterogeneous neoplasm, with models suggesting that the recurrent growth is from treatment-resistant glioblastoma stem-like cells (GSCs). Whether GSCs depend on survival/proliferative cues from their surrounding microenvironmental niche, particularly surrounding the leading edge after treatment remains unknown. Simulating human GBM in the laboratory relies on representative cell lines and xenograft models for translational medicine. Due to U87MG source discrepancy and differential proliferation responses to retinoic acid treatment, this study highlights the challenges faced by laboratory scientists working with this representative GBM cell line. Investigating the response to all trans-retinoic acid (ATRA) revealed its sequestering of the prominin-1 stem cell marker. ICAM-1 universally present throughout U87MG was enhanced by ATRA, of interest for chemotherapy targeting studies. ATRA triggered diverse expression patterns of long non-coding RNAs PARTICLE and GAS5 in the leading edge and established monolayer growth zone microenvironment. Karyotyping confirmed the female origin of U87MG sourced from Europe. Passaging U87MG revealed the presence of chromosomal anomalies reflective of structural genomic alterations in this glioblastoma cell line. All evidence considered, this study exposes further phenotypic nuances of U87MG which may belie researchers seeking data contributing towards the elusive cure for GBM. Full article
(This article belongs to the Section Neuroglia)
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Reply
Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889”
Brain Sci. 2021, 11(6), 811; https://doi.org/10.3390/brainsci11060811 - 18 Jun 2021
Viewed by 382
Abstract
It has been an honor for us to receive a comment on our article “Fatal Status Epilepticus in Dravet Syndrome” [...] Full article
(This article belongs to the Special Issue Advances in Epilepsy)
Article
Translation and Transcultural Adaptation of the Wessex Head Injury Matrix, Italian Version: A Preliminary Report
Brain Sci. 2021, 11(6), 810; https://doi.org/10.3390/brainsci11060810 - 18 Jun 2021
Viewed by 421
Abstract
Background: Patients who are in a coma, a vegetative state or a minimally conscious state present a clinical challenge for neurological assessment, which is a prerequisite for establishing a prognosis and planning management. Several scales have been developed to evaluate these patients. The [...] Read more.
Background: Patients who are in a coma, a vegetative state or a minimally conscious state present a clinical challenge for neurological assessment, which is a prerequisite for establishing a prognosis and planning management. Several scales have been developed to evaluate these patients. The Wessex Head Injury Matrix is a comprehensive tool but is currently available only in the French and English languages. The aim of this study was to translate and evaluate the reliability of the Italian version of the scale. Methods: The original scale was translated according to a standard protocol: three separate translations were made, and a selected version was back-translated to check for any errors in order to obtain the most accurate Italian translation. A final back translation of the agreed version was made as a further check. The final version was then administered blind to a consecutive series of patients with severe acquired brain injury by two examiners. Inter-rater and test-retest reliability were assessed using a weighted Cohen’s kappa (Kw). Concurrent validity of the WHIM was evaluated by ρ Spearman’s correlation coefficient using the Glasgow Coma Scale (GCS) and the Coma Recovery Scale Revised (CRS-R) as the available gold standard. Results: Twenty-four patients (12 males and 12 females; mean age 59.9 ± 20.1; mean duration from index event 17.7 ± 20.0 days) with stroke (n = 15), traumatic brain injury (n = 7) and anoxic encephalopathy (n = 2) were included. Inter-rater [Kw 0.80 (95% CI 0.75–0.84)] and test-retest reliability [Kw 0.77 (95% CI 0.72–0.81)] showed good values. WHIM total scores correlated significantly with total scores on the GCS (ρ = 0.776; p < 0.001) and the CRS-R (ρ = 0.881; p < 0.001) demonstrating concurrent validity; Conclusion: The Italian version of the scale is now available for clinical practice and research. Full article
(This article belongs to the Special Issue Recent Advances in the Study of Altered State of Consciousness)
Article
A CNN-Based Autoencoder and Machine Learning Model for Identifying Betel-Quid Chewers Using Functional MRI Features
Brain Sci. 2021, 11(6), 809; https://doi.org/10.3390/brainsci11060809 - 18 Jun 2021
Viewed by 361
Abstract
Betel quid (BQ) is one of the most commonly used psychoactive substances in some parts of Asia and the Pacific. Although some studies have shown brain function alterations in BQ chewers, it is virtually impossible for radiologists’ to visually distinguish MRI maps of [...] Read more.
Betel quid (BQ) is one of the most commonly used psychoactive substances in some parts of Asia and the Pacific. Although some studies have shown brain function alterations in BQ chewers, it is virtually impossible for radiologists’ to visually distinguish MRI maps of BQ chewers from others. In this study, we aimed to construct autoencoder and machine-learning models to discover brain alterations in BQ chewers based on the features of resting-state functional magnetic resonance imaging. Resting-state functional magnetic resonance imaging (rs-fMRI) was obtained from 16 BQ chewers, 15 tobacco- and alcohol-user controls (TA), and 17 healthy controls (HC). We used an autoencoder and machine learning model to identify BQ chewers among the three groups. A convolutional neural network (CNN)-based autoencoder model and supervised machine learning algorithm logistic regression (LR) were used to discriminate BQ chewers from TA and HC. Classifying the brain MRIs of HC, TA controls, and BQ chewers by conducting leave-one-out-cross-validation (LOOCV) resulted in the highest accuracy of 83%, which was attained by LR with two rs-fMRI feature sets. In our research, we constructed an autoencoder and machine-learning model that was able to identify BQ chewers from among TA controls and HC, which were based on data from rs-fMRI, and this might provide a helpful approach for tracking BQ chewers in the future. Full article
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Article
Psychological Impact of COVID-19 Outbreak on Families of Children with Autism Spectrum Disorder and Typically Developing Peers: An Online Survey
Brain Sci. 2021, 11(6), 808; https://doi.org/10.3390/brainsci11060808 - 18 Jun 2021
Viewed by 590
Abstract
Background: When COVID-19 was declared as a pandemic, many countries imposed severe lockdowns that changed families’ routines and negatively impacted on parents’ and children’s mental health. Several studies on families with children with autism spectrum disorder (ASD) revealed that lockdown increased the difficulties [...] Read more.
Background: When COVID-19 was declared as a pandemic, many countries imposed severe lockdowns that changed families’ routines and negatively impacted on parents’ and children’s mental health. Several studies on families with children with autism spectrum disorder (ASD) revealed that lockdown increased the difficulties faced by individuals with ASD, as well as parental distress. No studies have analyzed the interplay between parental distress, children’s emotional responses, and adaptive behaviors in children with ASD considering the period of the mandatory lockdown. Furthermore, we compared families with children on the spectrum and families with typically developing (TD) children in terms of their distress, children’s emotional responses, and behavioral adaptation. Methods: In this study, 120 parents of children aged 5–10 years (53 with ASD) participated. Results: In the four tested models, children’s positive and negative emotional responses mediated the impact of parental distress on children’s playing activities. In the ASD group, parents reported that their children expressed more positive emotions, but fewer playing activities, than TD children. Families with children on the spectrum reported greater behavioral problems during the lockdown and more parental distress. Conclusions: Our findings inform the interventions designed for parents to reduce distress and to develop coping strategies to better manage the caregiver–child relationship. Full article
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Article
Microglia Morphological Changes in the Motor Cortex of hSOD1G93A Transgenic ALS Mice
Brain Sci. 2021, 11(6), 807; https://doi.org/10.3390/brainsci11060807 - 18 Jun 2021
Viewed by 434
Abstract
Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of spinal motor neurons as well as corticospinal (CSN) large pyramidal neurons within cortex layer V. An intense microglia immune response has been associated with both upper and lower motor neuron degeneration in [...] Read more.
Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of spinal motor neurons as well as corticospinal (CSN) large pyramidal neurons within cortex layer V. An intense microglia immune response has been associated with both upper and lower motor neuron degeneration in ALS patients, whereas microgliosis occurrence in the motor cortex of hSOD1G93A mice—the best characterized model of this disease—is not clear and remains under debate. Since the impact of microglia cells in the neuronal environment seems to be crucial for both the initiation and the progression of the disease, here we analyzed the motor cortex of hSOD1G93A mice at the onset of symptoms by the immunolabeling of Iba1/TMEM119 double positive cells and confocal microscopy. By means of Sholl analysis, we were able to identify and quantify the presence of presumably activated Iba1/TMEM119-positive microglia cells with shorter and thicker processes as compared to the normal surveilling and more ramified microglia present in WT cortices. We strongly believe that being able to analyze microglia activation in the motor cortex of hSOD1G93A mice is of great importance for defining the timing and the extent of microglia involvement in CSN degeneration and for the identification of the initiation stages of this disease. Full article
(This article belongs to the Special Issue Imaging of Neuronal Environments)
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Review
Transcranial Direct Current Stimulation as a Treatment Tool for Mild Traumatic Brain Injury
Brain Sci. 2021, 11(6), 806; https://doi.org/10.3390/brainsci11060806 - 18 Jun 2021
Viewed by 507
Abstract
Mild traumatic brain injury (mTBI) has been defined as a transient (<24 h) condition of confusion and/or loss of consciousness for less than 30 min after brain injury and can result in short- and long-term motor and cognitive impairments. Recent studies have documented [...] Read more.
Mild traumatic brain injury (mTBI) has been defined as a transient (<24 h) condition of confusion and/or loss of consciousness for less than 30 min after brain injury and can result in short- and long-term motor and cognitive impairments. Recent studies have documented the therapeutic potential of non-invasive neuromodulation techniques for the enhancement of cognitive and motor function in mTBI. Alongside repetitive transcranial magnetic stimulation (rTMS), the main technique used for this purpose is transcranial direct current stimulation (tDCS). The focus of this review was to provide a detailed, comprehensive (i.e., both cognitive and motor impairment) overview of the literature regarding therapeutic tDCS paradigms after mTBI. A publication search of the PubMed, Scopus, CINAHL, and PsycINFO databases was performed to identify records that applied tDCS in mTBI. The publication search yielded 14,422 records from all of the databases, however, only three met the inclusion criteria and were included in the final review. Based on the review, there is limited evidence of tDCS improving cognitive and motor performance. Surprisingly, there were only three studies that used tDCS in mTBI, which highlights an urgent need for more research to provide additional insights into ideal therapeutic brain targets and optimized stimulation parameters. Full article
(This article belongs to the Section Systems Neuroscience)
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Systematic Review
Opioid Antagonist in the Treatment of Ischemic Stroke
Brain Sci. 2021, 11(6), 805; https://doi.org/10.3390/brainsci11060805 - 18 Jun 2021
Viewed by 589
Abstract
Stroke is a leading cause of death and disability, and novel treatments need to be found, particularly drugs with neuroprotective and restorative effects. Lately, there has been an increased interest in the relationship between opioids and ischemic stroke. To further appreciate this association [...] Read more.
Stroke is a leading cause of death and disability, and novel treatments need to be found, particularly drugs with neuroprotective and restorative effects. Lately, there has been an increased interest in the relationship between opioids and ischemic stroke. To further appreciate this association between opioids and stroke, we conducted a systematic review to investigate anti-opioid medication’s effectiveness in treating ischemic stroke. We used PubMed advanced-strategy and Google Scholar searches and only included full-text clinical trials on humans and written in the English language. After applying the inclusion/exclusion criteria, seven clinical trials were reviewed. Only one of the naloxone and nalmefene clinical trials showed statistically favorable results. Overall, the nalmefene clinical trials used more updated measures (NIHSS, GOS) to evaluate recovery and functional status in ischemic stroke patients than the naloxone clinical trials. There was less bias in the nalmefene clinical trials. Animal and in vitro studies have showed promising results. Additional research should be conducted with new clinical trials of both drugs with larger samples in patients less than 70 years old and moderate to severe infarcts. Full article
(This article belongs to the Section Neurorehabilitation)
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Article
Influence of Pain and Discomfort in Stroke Patients on Coping Strategies and Changes in Behavior and Lifestyle
Brain Sci. 2021, 11(6), 804; https://doi.org/10.3390/brainsci11060804 - 17 Jun 2021
Viewed by 434
Abstract
The implementation of prevention strategies can reduce the risk of having a stroke. This prospective, longitudinal, multicenter observational study of 82 patients describes health habits, quality of life, coping strategies, and physical and neurological status at 3 months and 1 year after stroke. [...] Read more.
The implementation of prevention strategies can reduce the risk of having a stroke. This prospective, longitudinal, multicenter observational study of 82 patients describes health habits, quality of life, coping strategies, and physical and neurological status at 3 months and 1 year after stroke. The EuroQoL-5D quality of life scale (EQ-5D) and the coping strategy measurement scale (COPE-28) were used to assess pain and discomfort, and behavioral and lifestyle changes. Significant differences were observed in the pain or discomfort levels of those patients with behavioral and lifestyle changes. Correlation was also found between pain or discomfort and the coping strategies associated with active emotional support at 1 year after stroke. The results of the pain or discomfort dimension were not, however, associated with better adherence to treatment. Pain and discomfort could have a predictive value in changes in lifestyles and behaviors but not for treatment adherence in patients who have had a stroke, which is significant at 1 year. In addition to important active coping strategies such as social support, these changes in behavior and lifestyle following a stroke are long-term and should therefore be assessed during the initial examination. Full article
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Article
NLM-HS: Navigation Learning Model Based on a Hippocampal–Striatal Circuit for Explaining Navigation Mechanisms in Animal Brains
Brain Sci. 2021, 11(6), 803; https://doi.org/10.3390/brainsci11060803 - 17 Jun 2021
Viewed by 408
Abstract
Neurophysiological studies have shown that the hippocampus, striatum, and prefrontal cortex play different roles in animal navigation, but it is still less clear how these structures work together. In this paper, we establish a navigation learning model based on the hippocampal–striatal circuit (NLM-HS), [...] Read more.
Neurophysiological studies have shown that the hippocampus, striatum, and prefrontal cortex play different roles in animal navigation, but it is still less clear how these structures work together. In this paper, we establish a navigation learning model based on the hippocampal–striatal circuit (NLM-HS), which provides a possible explanation for the navigation mechanism in the animal brain. The hippocampal model generates a cognitive map of the environment and performs goal-directed navigation by using a place cell sequence planning algorithm. The striatal model performs reward-related habitual navigation by using the classic temporal difference learning algorithm. Since the two models may produce inconsistent behavioral decisions, the prefrontal cortex model chooses the most appropriate strategies by using a strategy arbitration mechanism. The cognitive and learning mechanism of the NLM-HS works in two stages of exploration and navigation. First, the agent uses a hippocampal model to construct the cognitive map of the unknown environment. Then, the agent uses the strategy arbitration mechanism in the prefrontal cortex model to directly decide which strategy to choose. To test the validity of the NLM-HS, the classical Tolman detour experiment was reproduced. The results show that the NLM-HS not only makes agents show environmental cognition and navigation behavior similar to animals, but also makes behavioral decisions faster and achieves better adaptivity than hippocampal or striatal models alone. Full article
(This article belongs to the Section Computational Neuroscience and Neuroinformatics)
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Article
Factors Related to Greater Functional Recovery after Suffering a Stroke
Brain Sci. 2021, 11(6), 802; https://doi.org/10.3390/brainsci11060802 - 17 Jun 2021
Viewed by 552
Abstract
Background: In a stroke, the importance of initial functional status is fundamental for prognosis. The aim of the current study was to investigate functional status, assessed by the Functional Independence Measure (FIM) scale, and possible predictors of functional outcome at discharge from inpatient [...] Read more.
Background: In a stroke, the importance of initial functional status is fundamental for prognosis. The aim of the current study was to investigate functional status, assessed by the Functional Independence Measure (FIM) scale, and possible predictors of functional outcome at discharge from inpatient rehabilitation. Methods: This is a retrospective study that was carried out at the Physical Medicine and Rehabilitation Service in A Coruña (Spain). A total of 365 consecutive patients with primary diagnosis of stroke were enrolled. The functional assessments of all patients were performed through the FIM. A descriptive and a bivariate analysis of the variables included in the study was made and a succession of linear regression models was used to determine which variables were associated with the total FIM at discharge. Results: Prior to having the stroke, 76.7% were totally independent in activities of daily living. The FIM scale score was 52.5 ± 25.5 points at admission and 83.4 ± 26.3 at hospital discharge. The multivariate analysis showed that FIM scores on admission were the most important predictors of FIM outcomes. Conclusions: Our study indicates that the degree of independence prior to admission after suffering a stroke is the factor that will determine the functionality of patients at hospital discharge. Full article
(This article belongs to the Section Neurorehabilitation)
Protocol
Effects of Percutaneous Electrolysis on Endogenous Pain Modulation: A Randomized Controlled Trial Study Protocol
Brain Sci. 2021, 11(6), 801; https://doi.org/10.3390/brainsci11060801 - 17 Jun 2021
Viewed by 513
Abstract
Percutaneous electrolysis consists of the application of a galvanic electrical current throughout an acupuncture needle. It has been previously hypothesized that needling procedures’ neurophysiological effects may be related to endogenous pain modulation (EPM). This protocol study describes the design of a double-blind (participant, [...] Read more.
Percutaneous electrolysis consists of the application of a galvanic electrical current throughout an acupuncture needle. It has been previously hypothesized that needling procedures’ neurophysiological effects may be related to endogenous pain modulation (EPM). This protocol study describes the design of a double-blind (participant, assessor) randomized controlled trial with the aim to investigate whether percutaneous electrolysis is able to enhance EPM and whether the effect is different between two applications depending on the dosage of the galvanic electrical current. Seventy-two asymptomatic subjects not reporting the presence of pain symptoms the previous 6 months before the study, aged 18–40 years, are randomized into one of four groups: a control group who does not receive any intervention, a needling group who receives a needling intervention without electrical current, a low-intensity percutaneous electrolysis group (0.3 mA × 90 s), and a high-intensity percutaneous electrolysis group (three bouts of 3 mA × 3 s). Needling intervention consists of ultrasound-guided insertion of the needle on the common extensor tendon of the lateral epicondyle. The primary outcome is conditioned pain modulation (CPM), and secondary outcomes include widespread pressure pain sensitivity (pressure pain thresholds (PPT) over the lateral epicondyle, the cervical spine, and the tibialis anterior muscle) and temporal summation (TS). We expected that percutaneous electrolysis would have a greater influence on CPM than an isolated needling procedure and no intervention. In addition, we also postulated that there might be differences in outcome measures depending on the intensity of the electrical current during the percutaneous electrolysis application. This study makes a new contribution to the field of neurophysiological effects of percutaneous electrolysis and needling interventions. Full article
(This article belongs to the Special Issue Applications of Neuromodulation on Pain and Motor Learning)
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Article
Differentiating Functional Cognitive Disorder from Early Neurodegeneration: A Clinic-Based Study
Brain Sci. 2021, 11(6), 800; https://doi.org/10.3390/brainsci11060800 - 17 Jun 2021
Viewed by 352
Abstract
Functional cognitive disorder (FCD) is a relatively common cause of cognitive symptoms, characterised by inconsistency between symptoms and observed or self-reported cognitive functioning. We aimed to improve the clinical characterisation of FCD, in particular its differentiation from early neurodegeneration. Two patient cohorts were [...] Read more.
Functional cognitive disorder (FCD) is a relatively common cause of cognitive symptoms, characterised by inconsistency between symptoms and observed or self-reported cognitive functioning. We aimed to improve the clinical characterisation of FCD, in particular its differentiation from early neurodegeneration. Two patient cohorts were recruited from a UK-based tertiary cognitive clinic, diagnosed following clinical assessment, investigation and expert multidisciplinary team review: FCD, (n = 21), and neurodegenerative Mild Cognitive Impairment (nMCI, n = 17). We separately recruited a healthy control group (n = 25). All participants completed an assessment battery including: Hopkins Verbal Learning Test-Revised (HVLT-R), Trail Making Test Part B (TMT-B); Depression Anxiety and Stress Scale (DASS) and Minnesota Multiphasic Personality Inventory (MMPI-2RF). In comparison to healthy controls, the FCD and nMCI groups were equally impaired on trail making, immediate recall, and recognition tasks; had equally elevated mood symptoms; showed similar aberration on a range of personality measures; and had similar difficulties on inbuilt performance validity tests. However, participants with FCD performed significantly better than nMCI on HVLT-R delayed free recall and retention (regression coefficient −10.34, p = 0.01). Mood, personality and certain cognitive abilities were similarly altered across nMCI and FCD groups. However, those with FCD displayed spared delayed recall and retention, in comparison to impaired immediate recall and recognition. This pattern, which is distinct from that seen in prodromal neurodegeneration, is a marker of internal inconsistency. Differentiating FCD from nMCI is challenging, and the identification of positive neuropsychometric features of FCD is an important contribution to this emerging area of cognitive neurology. Full article
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Article
External Validation and Calibration of the DecaPreT Prediction Model for Decannulation in Patients with Acquired Brain Injury
Brain Sci. 2021, 11(6), 799; https://doi.org/10.3390/brainsci11060799 - 17 Jun 2021
Viewed by 373
Abstract
We propose a new set of clinical variables for a more accurate early prediction of safe decannulation in patients with severe acquired brain injury (ABI), during a post-acute rehabilitation course. Starting from the already validated DecaPreT scale, we tested the accuracy of new [...] Read more.
We propose a new set of clinical variables for a more accurate early prediction of safe decannulation in patients with severe acquired brain injury (ABI), during a post-acute rehabilitation course. Starting from the already validated DecaPreT scale, we tested the accuracy of new logistic regression models where the coefficients of the original predictors were reestimated. Patients with tracheostomy were retrospectively selected from the database of the neurorehabilitation unit at the S. Anna Institute of Crotone, Italy. New potential predictors of decannulation were screened from variables collected on admission during clinical examination, including (a) age at injury, (b) coma recovery scale-revised (CRS-r) scores, and c) length of ICU period. Of 273 patients with ABI (mean age 53.01 years; 34% female; median DecaPreT = 0.61), 61.5% were safely decannulated before discharge. In the validation phase, the linear logistic prediction model, created with the new multivariable predictors, obtained an area under the receiver operating characteristics curve of 0.901. Our model improves the reliability of simple clinical variables detected at the admission of the post-acute phase in predicting decannulation of ABI patients, thus helping clinicians to plan better rehabilitation. Full article
(This article belongs to the Special Issue Clinical Usefulness of Research on Disorders of Consciousness)
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Article
A Study on the Life Experiences of Adolescents Who Grew up with Younger Siblings with Developmental Disabilities: Focusing on Phenomenological Analysis Methods
Brain Sci. 2021, 11(6), 798; https://doi.org/10.3390/brainsci11060798 - 17 Jun 2021
Viewed by 404
Abstract
This study aims to explore specific life experiences and what it means to “live as a sibling of a disabled person”, by focusing on the brothers and sisters of persons with disabilities; this is a cohort that has been relatively marginalized in the [...] Read more.
This study aims to explore specific life experiences and what it means to “live as a sibling of a disabled person”, by focusing on the brothers and sisters of persons with disabilities; this is a cohort that has been relatively marginalized in the field of welfare for the disabled. To this end, the author conducted 1:1 in-depth interviews with four adolescents who grew up with younger siblings who have developmental disabilities, and analyzed the meaning underlying their life experiences through phenomenological research methods. As a result, a total of five core themes of those life experiences were identified: (1) the birth of a disabled younger sibling, wherein their trials began; (2) surviving differentiation within the family; (3) ambivalence toward parents; (4) adolescence, with resurfaced psychological conflicts and relieving emotions; and (5) a future to be planned around a life of coexisting with disabled siblings. This study aims to provide basic data for social welfare intervention through an illuminating and deeper understanding of the lives of siblings of the developmentally disabled who require a high level of care. Full article
(This article belongs to the Special Issue Social Interaction in Children with Neurodevelopmental Disorders)
Review
Tobacco and Nervous System Development and Function—New Findings 2015–2020
Brain Sci. 2021, 11(6), 797; https://doi.org/10.3390/brainsci11060797 - 16 Jun 2021
Cited by 1 | Viewed by 450
Abstract
Tobacco is a one of the most common addictive stimulants used by people around the world. The smoke generated during tobacco combustion is a toxic mixture of more than 5000 chemicals of which over 30 are known human carcinogens. While its negative effects [...] Read more.
Tobacco is a one of the most common addictive stimulants used by people around the world. The smoke generated during tobacco combustion is a toxic mixture of more than 5000 chemicals of which over 30 are known human carcinogens. While its negative effects on the human body are well understood, it remains a serious public health problem. One of the multiple effects of smoking is tobacco’s effect on the nervous system—its development and function. This review aims to summarize the progress made in research on the effects of tobacco on the nervous system both of the perinatal period and adults and both in animals and humans in 2015–2020. The 1245 results that corresponded to the keywords “tobacco, cigarette, nervous system, brain, morphology, function” were reviewed, of which 200 abstracts were considered significant. Most of those articles broadened the knowledge about the negative effects of smoking on the human nervous system. Tobacco has a significant negative impact on the development of nervous structures, neurotransmission and cognitive functions, and promotes the development of neurodegenerative diseases, insomnia and cerebrovascular diseases. The only exception is the protective effect of the dopaminergic system in Parkinson’s disease. In conclusion, in recent years much effort has been devoted to describing, revealing and uncovering new aspects of tobacco detrimental to human life. The nicotine contained in tobacco smoke affects the human body in a multidimensional way, including a serious impact on the broadly understood neurological health. Full article
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Article
The Fear to Move in a Crowded Environment. Poor Spatial Memory Related to Agoraphobic Disorder
Brain Sci. 2021, 11(6), 796; https://doi.org/10.3390/brainsci11060796 - 16 Jun 2021
Viewed by 327
Abstract
Individuals with agoraphobia exhibit impaired exploratory activity when navigating unfamiliar environments. However, no studies have investigated the contribution of visuospatial working memory (VSWM) in these individuals’ ability to acquire and process spatial information while considering the use of egocentric and allocentric coordinates or [...] Read more.
Individuals with agoraphobia exhibit impaired exploratory activity when navigating unfamiliar environments. However, no studies have investigated the contribution of visuospatial working memory (VSWM) in these individuals’ ability to acquire and process spatial information while considering the use of egocentric and allocentric coordinates or environments with or without people. A total of 106 individuals (53 with agoraphobia and 53 controls) navigated in a virtual square to acquire spatial information that included the recognition of landmarks and the relationship between landmarks and themselves (egocentric coordinates) and independent of themselves (allocentric coordinates). Half of the participants in both groups navigated in a square without people, and half navigated in a crowded square. They completed a VSWM test in addition to tasks measuring landmark recognition and egocentric and allocentric judgements concerning the explored square. The results showed that individuals with agoraphobia had reduced working memory only when active processing of spatial elements was required, suggesting that they exhibit spatial difficulties particularly in complex spatial tasks requiring them to process information simultaneously. Specifically, VSWM deficits mediated the relationship between agoraphobia and performance in the allocentric judgements. The results are discussed considering the theoretical background of agoraphobia in order to provide useful elements for the early diagnosis of this disorder. Full article
(This article belongs to the Special Issue Application of Virtual Reality in Spatial Memory)
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Article
Let Me See: Correlation between 5-ALA Fluorescence and Molecular Pathways in Glioblastoma: A Single Center Experience
Brain Sci. 2021, 11(6), 795; https://doi.org/10.3390/brainsci11060795 - 16 Jun 2021
Viewed by 441
Abstract
Background: Despite the aggressiveness of multimodal treatment, glioblastoma (GBM) is still a challenge for neurosurgeons, neurooncologists, and radiotherapists. A surgical approach is still a cornerstone in GBM therapeutic management, as the extent of resection is strongly related both to overall survival and progression-free [...] Read more.
Background: Despite the aggressiveness of multimodal treatment, glioblastoma (GBM) is still a challenge for neurosurgeons, neurooncologists, and radiotherapists. A surgical approach is still a cornerstone in GBM therapeutic management, as the extent of resection is strongly related both to overall survival and progression-free survival. From this perspective, the use of photodynamic molecules could represent an interesting tool to achieve maximal and safe resection. Being able to trace the lesion’s edges, indeed, could allow to improve the extent of resection and to minimize residual tumor while sparing normal tissue. The use of 5-aminolevulinic acid (5-ALA) as a photodynamic tracer is well established due to its strict correlation both with cellularity and metabolic activity of the GBM cell clones. Objective: Our study aims to define whether a different molecular asset of GBM (especially investigating IDH 1/2 mutation, proliferation index, and MGMT promoter methylation) results in different fluorescence expression, possibly because of differences in metabolic pathways due to different genotypes. Methods: Patients undergoing surgery for GBM removal at our Institute (Dep. Of Neurosurgery, Ospedale Città della Salute e della Scienza, University of Turin, Italy) were retrospectively reviewed. Patients with histological diagnosis confirmation and to whom 5-ALA was given before surgery were included. The whole surgical procedure was recorded and then analyzed by three different people (a medical student, a resident, and a senior surgeon with an interest in neurooncology and experience in using 5-ALA) and a score was assigned to the different degrees of intraoperative fluorescence. The degree of fluorescence was then matched with the genotype. Results: A trend of grade 2 fluorescence (i.e., ”strong”) was observed in the IDH 1/2 wild-type (WT) genotype, suggesting a more intense metabolic activity in this particular subgroup, while, no or weak fluorescence was observed more often in the IDH 1/2 mutated tumors, suggesting a lower metabolic activity. No relations were found between fluorescence grade and MGMT promoter methylation or, interestingly, cellularity. As a secondary analysis, more epileptogenicity of the IDH 1/2 mutated GBM was noticed, similarly to other recent literature. Conclusion: Our results do not support the use of 5-ALA as a diagnostic tool, or a way to substitute the molecular profiling, but confirm 5-ALA as a powerful metabolic tracer, able to easily detect the pathological cells, especially in the IDH WT genotype, and in this perspective, further studies will be necessary to better describe the metabolic activity of GBM cells. Full article
(This article belongs to the Special Issue Modern Image-Guided Surgical Strategies in Neurosurgical Oncology)
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Article
Pupillary Responses to Faces Are Modulated by Familiarity and Rewarding Context
Brain Sci. 2021, 11(6), 794; https://doi.org/10.3390/brainsci11060794 - 16 Jun 2021
Viewed by 480
Abstract
Observing familiar (known, recognisable) and socially relevant (personally important) faces elicits activation in the brain’s reward circuit. Although smiling faces are often used as social rewards in research, it is firstly unclear whether familiarity and social relevance modulate the processing of faces differently, [...] Read more.
Observing familiar (known, recognisable) and socially relevant (personally important) faces elicits activation in the brain’s reward circuit. Although smiling faces are often used as social rewards in research, it is firstly unclear whether familiarity and social relevance modulate the processing of faces differently, and secondly whether this processing depends on the feedback context, i.e., if it is different when smiles are delivered depending on performance or in the absence of any action (passive viewing). In this preregistered study, we compared pupillary responses to smiling faces differing in subjective familiarity and social relevance. They were displayed in a passive viewing task and in an active task (a speeded visual short-term memory task). The pupils were affected only in the active task and only by subjective familiarity. Contrary to expectations, smaller dilations were observed in response to more familiar faces. Behavioural ratings supported the superior rewarding context of the active task, with higher reward ratings for the game than the passive task. This study offers two major insights. Firstly, familiarity plays a role in the processing of social rewards, as known and unknown faces influence the autonomic responses differently. Secondly, the feedback context is crucial in reward research as positive stimuli are rewarding when they are dependent on performance. Full article
(This article belongs to the Section Social Cognitive and Affective Neuroscience)
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Review
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature
Brain Sci. 2021, 11(6), 793; https://doi.org/10.3390/brainsci11060793 - 16 Jun 2021
Viewed by 467
Abstract
The rare nevus sebaceous (NS) syndrome (NSS) includes cortical malformations and drug-resistant epilepsy. Somatic RAS-pathway genetic variants are pathogenetic in NS, but not yet described within the brain of patients with NSS. We report on a 5-year-old boy with mild psychomotor delay. A [...] Read more.
The rare nevus sebaceous (NS) syndrome (NSS) includes cortical malformations and drug-resistant epilepsy. Somatic RAS-pathway genetic variants are pathogenetic in NS, but not yet described within the brain of patients with NSS. We report on a 5-year-old boy with mild psychomotor delay. A brown-yellow linear skin lesion suggestive of NS in the left temporo-occipital area was evident at birth. Epileptic spasms presented at aged six months. EEG showed continuous left temporo-occipital epileptiform abnormalities. Brain MRI revealed a similarly located diffuse cortical malformation with temporal pole volume reduction and a small hippocampus. We performed a left temporo-occipital resection with histopathological diagnosis of focal cortical dysplasia type Ia in the occipital region and hippocampal sclerosis type 1. Three years after surgery, he is seizure-and drug-free (Engel class Ia) and showed cognitive improvement. Genetic examination of brain and skin specimens revealed the c.35G > T (p.Gly12Val) KRAS somatic missense mutation. Literature review suggests epilepsy surgery in patients with NSS is highly efficacious, with 73% probability of seizure freedom. The few histological analyses reported evidenced disorganized cortex, occasionally with cytomegalic neurons. This is the first reported association of a KRAS genetic variant with cortical malformations associated with epilepsy, and suggests a possible genetic substrate for hippocampal sclerosis. Full article
(This article belongs to the Special Issue Surgical Management of Medically Intractable Epilepsy)
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