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1.
Brain Sci ; 14(6)2024 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-38928542

RESUMO

Over the past twenty years, scientific research on body representations has grown significantly, with Body Memory (BM) emerging as a prominent area of interest in neurorehabilitation. Compared to other body representations, BM stands out as one of the most obscure due to the multifaceted nature of the concept of "memory" itself, which includes various aspects (such as implicit vs. explicit, conscious vs. unconscious). The concept of body memory originates from the field of phenomenology and has been developed by research groups studying embodied cognition. In this narrative review, we aim to present compelling evidence from recent studies that explore various definitions and explanatory models of BM. Additionally, we will provide a comprehensive overview of the empirical settings used to examine BM. The results can be categorized into two main areas: (i) how the body influences our memories, and (ii) how memories, in their broadest sense, could generate and/or influence metarepresentations-the ability to reflect on or make inferences about one's own cognitive representations or those of others. We present studies that emphasize the significance of BM in experimental settings involving patients with neurological and psychiatric disorders, ultimately analyzing these findings from an ontogenic perspective.

2.
J Neurol ; 271(7): 4693-4723, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38802624

RESUMO

In the last few years, our understanding of disease molecular mechanisms underpinning ALS has advanced greatly, allowing the first steps in translating into clinical practice novel research findings, including gene therapy approaches. Similarly, the recent advent of assistive technologies has greatly improved the possibility of a more personalized approach to supportive and symptomatic care, in the context of an increasingly complex multidisciplinary line of actions, which remains the cornerstone of ALS management. Against this rapidly growing background, here we provide an comprehensive update on the most recent studies that have contributed towards our understanding of ALS pathogenesis, the latest results from clinical trials as well as the future directions for improving the clinical management of ALS patients.


Assuntos
Esclerose Lateral Amiotrófica , Esclerose Lateral Amiotrófica/terapia , Esclerose Lateral Amiotrófica/genética , Humanos , Animais
3.
Front Neurol ; 15: 1329044, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38562428

RESUMO

Introduction: Understanding the residual recovery potential in stroke patients is crucial for tailoring effective neurorehabilitation programs. We propose using EEG and plasmatic Neurofilament light chain (NfL) levels as a model to depict longitudinal patterns of stroke recovery. Methods: We enrolled 13 patients (4 female, mean age 74.7 ± 8.8) who underwent stroke in the previous month and were hospitalized for 2-months rehabilitation. Patients underwent blood withdrawal, clinical evaluation and high-definition EEG at T1 (first week of rehabilitation) and at T2 (53 ± 10 days after). We assessed the levels of NfL and we analyzed the EEG signal extracting Spectral Exponent (SE) values. We compared our variables between the two timepoint and between cortical and non-cortical strokes. Results: We found a significant difference in the symmetry of SE values between cortical and non-cortical stroke at both T1 (p = 0.005) and T2 (p = 0.01). SE in the affected hemisphere showed significantly steeper values at T1 when compared with T2 (p = 0.001). EEG measures were consistently related to clinical scores, while NfL at T1 was related to the volume of ischemic lesions (r = 0.75; p = 0.003). Additionally, the combined use of NfL and SE indicated varying trends in longitudinal clinical recovery. Conclusion: We present proof of concept of a promising approach for the characterization of different recovery patterns in stroke patients.

4.
Brain Sci ; 14(4)2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38672035

RESUMO

In the last two decades, the scientific literature on so-called body representations has been increasing, and the notion of body awareness (BA) is particularly interesting for neurorehabilitation. In this article, we present results derived from recent studies on this representation, considering the different definitions and explicative models proposed as well as the empirical settings used to test it, providing an extensive overview of these issues. This article discusses the challenge of understanding how we integrate the sensory experiences of proprioception (knowing where our body is in space) and interoception (sensing internal bodily sensations, like hunger of thirst) with our perception of self. This is a difficult problem to analyze because our awareness of our body is inherently linked to our perspective, since the body is the means through which we interact with the world. Presenting the different viewpoints offered by recent theories on this concern, we highlighted that the neurorehabilitation and psychiatric settings offer two important fields useful for the study of BA because in them it is possible to analyze bodily representations by inducing/observing a controlled discrepancy between dysfunctional content and sensory inputs.

5.
Comput Biol Med ; 171: 108193, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38387382

RESUMO

BACKGROUND: Dysphagia is a disorder that can be associated to several pathological conditions, including neuromuscular diseases, with significant impact on quality of life. Dysphagia often leads to malnutrition, as a consequence of the dietary changes made by patients or their caregivers, who may deliberately decide to reduce or avoid specific food consistencies (because they are not perceived as safe), and the lack of knowledge in how to process foods are critics. Such dietary changes often result in unbalanced nutrients intake, which can have significant consequences for frail patients. This paper presents the development of a prototypical novel ontology-based Decision Support System (DSS) to support neuromuscular patients with dysphagia (following a per-oral nutrition) and their caregivers in preparing nutritionally balanced and safe meals. METHOD: After reviewing scientific literature, we developed in collaboration with Ear-Nose-Throat (ENT) specialists, neurologists, and dieticians the DSS formalizes expert knowledge to suggest recipes that are considered safe according to patient's consistency limitations and dysphagia severity and also nutritionally well-balanced. RESULTS: The prototype can be accessed via digital applications both by physicians to generate and verify the recommendations, and by the patients and their caregivers to follow the step-by-step procedures to autonomously prepare and process one or more recipe. The system is evaluated with 9 clinicians to assess the quality of the DSS's suggested recipes and its acceptance in clinical practice. CONCLUSIONS: Preliminary results suggest a global positive outcome for the recipes inferred by the DSS and a good usability of the system.


Assuntos
Transtornos de Deglutição , Humanos , Qualidade de Vida , Alimentos , Estado Nutricional
6.
Int J Mol Sci ; 25(3)2024 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-38338823

RESUMO

Retroviral reverse transcriptase activity and the increased expression of human endogenous retroviruses (HERVs) are associated with amyotrophic lateral sclerosis (ALS). We were interested in confirming HERVK overexpression in the ALS brain, its use as an accessory diagnostic marker for ALS, and its potential interplay with neuroinflammation. Using qPCR to analyze HERVK expression in peripheral blood mononuclear cells (PBMCs) and in postmortem brain samples from ALS patients, no significant differences were observed between patients and control subjects. By contrast, we report alterations in the expression patterns of specific HERVK copies, especially in the brainstem. Out of 27 HERVK copies sampled, the relative expression of 17 loci was >1.2-fold changed in samples from ALS patients. In particular, the relative expression of two HERVK copies (Chr3-3 and Chr3-5) was significantly different in brainstem samples from ALS patients compared with controls. Further qPCR analysis of inflammation markers in brain samples revealed a significant increase in NLRP3 levels, while TNFA, IL6, and GZMB showed slight decreases. We cannot confirm global HERVK overexpression in ALS, but we can report the ALS-specific overexpression of selected HERVK copies in the ALS brain. Our data are compatible with the requirement for better patient stratification and support the potential importance of particular HERVK copies in ALS.


Assuntos
Esclerose Lateral Amiotrófica , Retrovirus Endógenos , Humanos , Esclerose Lateral Amiotrófica/metabolismo , Retrovirus Endógenos/genética , Leucócitos Mononucleares/metabolismo , Encéfalo/metabolismo , Tronco Encefálico/metabolismo
7.
Epigenomics ; 16(4): 203-214, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38312023

RESUMO

Aim: To correlate mitochondrial D-loop region methylation levels and mtDNA copy number with disease duration in familial amyotrophic lateral sclerosis (ALS) patients. Patients & methods: The study population included 12 ALS patients with a mutation in SOD1 and 13 ALS patients with the C9orf72 hexanucleotide repeat expansion. Methylation levels of the D-loop region and mtDNA copy number were quantified using pyrosequencing and quantitative PCR, respectively. Results: We observed that D-loop methylation levels inversely correlated while mtDNA copy number positively correlated with disease duration. Conclusion: Considering the central role played by mitochondria in ALS, this preliminary study provides new knowledge for future studies aimed at identifying biomarkers of disease progression and new targets for therapeutic interventions.


Amyotrophic lateral sclerosis is a devastating neurodegenerative disease which leads to the patient's death a few years after the onset of the first symptoms. There are currently no treatments to cure the disease, and the only drugs available are able to prolong patients' lives by only a few months. Patients may have much variability in the presentation of symptoms, including different duration of disease. This study aims to research whether mitochondrial DNA methylation, a mechanism involved in the biology of the mitochondrion, is associated with the duration of the disease. We observed that methylation of mitochondrial DNA inversely correlates with the disease duration, providing new knowledge for future studies aimed at identifying biomarkers of disease progression.


Assuntos
Esclerose Lateral Amiotrófica , Humanos , Esclerose Lateral Amiotrófica/genética , Mutação , Metilação de DNA , DNA Mitocondrial/genética , Mitocôndrias/genética
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