Review

Jump to: Other

15 pages, 810 KiB

Open AccessReview

Vocal Fold Motion Impairment in Neurodegenerative Diseases

by Rumi Ueha, Cathrine Miura, Naoyuki Matsumoto, Taku Sato, Takao Goto and Kenji Kondo

J. Clin. Med. 2024, 13(9), 2507; https://doi.org/10.3390/jcm13092507 - 24 Apr 2024

Viewed by 204

Vocal fold motion impairment (VFMI) is the inappropriate movement of the vocal folds during respiration, leading to vocal fold adduction and/or abduction problems and causing respiratory and vocal impairments. Neurodegenerative diseases (NDDs) are a wide range of disorders characterized by progressive loss of [...] Read more.

Vocal fold motion impairment (VFMI) is the inappropriate movement of the vocal folds during respiration, leading to vocal fold adduction and/or abduction problems and causing respiratory and vocal impairments. Neurodegenerative diseases (NDDs) are a wide range of disorders characterized by progressive loss of neurons and deposition of altered proteins in the brain and peripheral organs. VFMI may be unrecognized in patients with NDDs. VFMI in NDDs is caused by the following: laryngeal muscle weakness due to muscular atrophy, caused by brainstem and motor neuron degeneration in amyotrophic lateral sclerosis; hyperactivity of laryngeal adductors in Parkinson’s disease; and varying degrees of laryngeal adductor hypertonia and abductor paralysis in multiple system atrophy. Management of VFMI depends on whether there is a presence of glottic insufficiency or insufficient glottic opening with/without severe dysphagia. VFMI treatment options for glottic insufficiency range from surgical interventions, including injection laryngoplasty and medialization thyroplasty, to behavioral therapies; for insufficient glottic opening, various options are available based on the severity and underlying cause of the condition, including continuous positive airway pressure therapy, botulinum toxin injection, tracheostomy, vocal fold surgery, or a combination of interventions. In this review, we outline the mechanisms, clinical features, and management of VFMI in NDDs and provide a guide for physicians who may encounter these clinical features in their patients. NDDs are always progressive; hence, timely evaluation, proper diagnosis, and appropriate management of the patient will greatly affect their vocal, respiratory, and swallowing functions as well as their quality of life. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

35 pages, 1273 KiB

Open AccessReview

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap

by Despoina Chatzi, Stella Aikaterini Kyriakoudi, Iasonas Dermitzakis, Maria Eleni Manthou, Soultana Meditskou and Paschalis Theotokis

J. Clin. Med. 2024, 13(8), 2223; https://doi.org/10.3390/jcm13082223 - 11 Apr 2024

Viewed by 721

Abstract

Neurocristopathies (NCPs) encompass a spectrum of disorders arising from issues during the formation and migration of neural crest cells (NCCs). NCCs undergo epithelial–mesenchymal transition (EMT) and upon key developmental gene deregulation, fetuses and neonates are prone to exhibit diverse manifestations depending on the [...] Read more.

Neurocristopathies (NCPs) encompass a spectrum of disorders arising from issues during the formation and migration of neural crest cells (NCCs). NCCs undergo epithelial–mesenchymal transition (EMT) and upon key developmental gene deregulation, fetuses and neonates are prone to exhibit diverse manifestations depending on the affected area. These conditions are generally rare and often have a genetic basis, with many following Mendelian inheritance patterns, thus making them perfect candidates for precision medicine. Examples include cranial NCPs, like Goldenhar syndrome and Axenfeld–Rieger syndrome; cardiac–vagal NCPs, such as DiGeorge syndrome; truncal NCPs, like congenital central hypoventilation syndrome and Waardenburg syndrome; and enteric NCPs, such as Hirschsprung disease. Additionally, NCCs’ migratory and differentiating nature makes their derivatives prone to tumors, with various cancer types categorized based on their NCC origin. Representative examples include schwannomas and pheochromocytomas. This review summarizes current knowledge of diseases arising from defects in NCCs’ specification and highlights the potential of precision medicine to remedy a clinical phenotype by targeting the genotype, particularly important given that those affected are primarily infants and young children. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Graphical abstract

39 pages, 992 KiB

Open AccessReview

The Interplay of Sports and Nutrition in Neurological Health and Recovery

by Vicente Javier Clemente-Suárez, Laura Redondo-Flórez, Ana Isabel Beltrán-Velasco, Pedro Belinchón-deMiguel, Domingo Jesús Ramos-Campo, Agustín Curiel-Regueros, Alexandra Martín-Rodríguez and José Francisco Tornero-Aguilera

J. Clin. Med. 2024, 13(7), 2065; https://doi.org/10.3390/jcm13072065 - 02 Apr 2024

Viewed by 645

Abstract

This comprehensive review explores the dynamic relationship between sports, nutrition, and neurological health. Focusing on recent clinical advancements, it examines how physical activity and dietary practices influence the prevention, treatment, and rehabilitation of various neurological conditions. The review highlights the role of neuroimaging [...] Read more.

This comprehensive review explores the dynamic relationship between sports, nutrition, and neurological health. Focusing on recent clinical advancements, it examines how physical activity and dietary practices influence the prevention, treatment, and rehabilitation of various neurological conditions. The review highlights the role of neuroimaging in understanding these interactions, discusses emerging technologies in neurotherapeutic interventions, and evaluates the efficacy of sports and nutritional strategies in enhancing neurological recovery. This synthesis of current knowledge aims to provide a deeper understanding of how lifestyle factors can be integrated into clinical practices to improve neurological outcomes. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Graphical abstract

25 pages, 3887 KiB

Open AccessReview

Mitochondrial Metabolism in Major Depressive Disorder: From Early Diagnosis to Emerging Treatment Options

by Ane Larrea, Laura Sánchez-Sánchez, Eguzkiñe Diez-Martin, Ane Elexpe, María Torrecilla, Egoitz Astigarraga and Gabriel Barreda-Gómez

J. Clin. Med. 2024, 13(6), 1727; https://doi.org/10.3390/jcm13061727 - 17 Mar 2024

Viewed by 1032

Abstract

Major Depressive Disorder (MDD) is one of the most disabling diseases in the world. MDD is traditionally diagnosed based on a patient’s symptoms, which can lead to misdiagnosis. Although the pathogenic mechanisms of MDD are unknown, several studies have identified mitochondrial dysfunction as [...] Read more.

Major Depressive Disorder (MDD) is one of the most disabling diseases in the world. MDD is traditionally diagnosed based on a patient’s symptoms, which can lead to misdiagnosis. Although the pathogenic mechanisms of MDD are unknown, several studies have identified mitochondrial dysfunction as a central factor in the onset and progression of MDD. In the context of MDD, alterations in mitochondrial metabolism can lead to imbalances in energy production and oxidative stress, contributing to the disorder´s underlying pathophysiological mechanisms. Consequently, the identification of mitochondrial dysfunction as a key biomarker for early and accurate diagnosis of MDD represents a significant challenge. Faced with the limits of traditional treatments with antidepressants, new pharmacological therapeutic targets are being investigated such as ketamine/esketamine, psychedelics, or anti-inflammatories. All of these drugs show potential antidepressant effects due to their speed of action and ability to modulate neuroplasticity and/or motor processing. In parallel, non-pharmacological therapeutic targets are studied, like Transcranial Magnetic Stimulation (TMS) and Deep Brain Stimulation (DBS), recognized for their ability to modulate neuronal activity and offer treatment alternatives. As cellular activity is directly related to mitochondrial respiration, the aim of this review is examining the link between mitochondrial dysfunction and MDD, assessing how mitochondrial biomarkers could provide a more objective and precise diagnostic tool, and exploring other treatments in addition to traditional antidepressants, with a specific focus on emerging therapeutic targets. Finally, a detailed analysis of the strengths, weaknesses, opportunities, and threats of these approaches was carried out, highlighting the key challenges that must be addressed. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Graphical abstract

18 pages, 1910 KiB

Open AccessReview

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

by Ivelina Kioutchoukova, Devon Foster, Rajvi Thakkar, Christopher Ciesla, Jake Salvatore Cabassa, Jacob Strouse, Hayley Kurz and Brandon Lucke-Wold

J. Clin. Med. 2024, 13(6), 1648; https://doi.org/10.3390/jcm13061648 - 13 Mar 2024

Viewed by 740

Abstract

Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion [...] Read more.

Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions. The interconnectedness between therapeutic options highlights the importance of precision medicine in treating each disorder’s unique molecular pathway. This review provides an extensive synthesis of ongoing and current therapeutics in the management of such clinically unique and challenging conditions. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Figure 1

24 pages, 734 KiB

Open AccessReview

Neurodevelopmental Disorders and Suicide: A Narrative Review

by Antonella Gagliano, Carola Costanza, Irene Di Modica, Sara Carucci, Federica Donno, Eva Germanò, Costanza Scaffidi Abbate, Michele Roccella and Luigi Vetri

J. Clin. Med. 2024, 13(6), 1627; https://doi.org/10.3390/jcm13061627 - 12 Mar 2024

Viewed by 1034

Abstract

Specific risk factors for self-harm and suicide in children and adolescents with neurodevelopmental disorders (NDD) may differ from those in the general population within this age range. In the present review paper, we conducted a narrative analysis of the literature, aiming to establish [...] Read more.

Specific risk factors for self-harm and suicide in children and adolescents with neurodevelopmental disorders (NDD) may differ from those in the general population within this age range. In the present review paper, we conducted a narrative analysis of the literature, aiming to establish a connection between suicide and affective disorders in children and adolescents with NDD. Emotion dysregulation (ED) as an individual factor and adverse childhood experiences (ACE) as environmental factors are discussed as risk factors for suicidality in all individuals with NDD. We propose a theoretical model in which ED and ACE can directly lead to self-harm or suicide, directly or indirectly by interacting with depressive spectrum disorders. Additionally, we suggest that specific risk factors are more frequently associated with each of the neurodevelopmental disorders listed in the DSM-V. This review underlines the key points useful to improve the knowledge of the trajectory leading to suicide risk in NDDs with the purpose to facilitate the early identification of the suicide risk. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Figure 1

Other

Jump to: Review

15 pages, 1056 KiB

Open AccessSystematic Review

Towards a Deeper Understanding: Utilizing Machine Learning to Investigate the Association between Obesity and Cognitive Decline—A Systematic Review

by Isabella Veneziani, Alessandro Grimaldi, Angela Marra, Elisabetta Morini, Laura Culicetto, Silvia Marino, Angelo Quartarone and Giuseppa Maresca

J. Clin. Med. 2024, 13(8), 2307; https://doi.org/10.3390/jcm13082307 - 16 Apr 2024

Viewed by 308

Abstract

Background/Objectives: Several studies have shown a relation between obesity and cognitive decline, highlighting a significant global health challenge. In recent years, artificial intelligence (AI) and machine learning (ML) have been integrated into clinical practice for analyzing datasets to identify new risk factors, [...] Read more.

Background/Objectives: Several studies have shown a relation between obesity and cognitive decline, highlighting a significant global health challenge. In recent years, artificial intelligence (AI) and machine learning (ML) have been integrated into clinical practice for analyzing datasets to identify new risk factors, build predictive models, and develop personalized interventions, thereby providing useful information to healthcare professionals. This systematic review aims to evaluate the potential of AI and ML techniques in addressing the relationship between obesity, its associated health consequences, and cognitive decline. Methods: Systematic searches were performed in PubMed, Cochrane, Web of Science, Scopus, Embase, and PsycInfo databases, which yielded eight studies. After reading the full text of the selected studies and applying predefined inclusion criteria, eight studies were included based on pertinence and relevance to the topic. Results: The findings underscore the utility of AI and ML in assessing risk and predicting cognitive decline in obese patients. Furthermore, these new technology models identified key risk factors and predictive biomarkers, paving the way for tailored prevention strategies and treatment plans. Conclusions: The early detection, prevention, and personalized interventions facilitated by these technologies can significantly reduce costs and time. Future research should assess ethical considerations, data privacy, and equitable access for all. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Figure 1

30 pages, 687 KiB

Open AccessSystematic Review

Platelet Dynamics in Neurodegenerative Disorders: Investigating the Role of Platelets in Neurological Pathology

by Maria Piera L. Cadoni, Donatella Coradduzza, Antonella Congiargiu, Stefania Sedda, Angelo Zinellu, Serenella Medici, Alessandra Matilde Nivoli and Ciriaco Carru

J. Clin. Med. 2024, 13(7), 2102; https://doi.org/10.3390/jcm13072102 - 03 Apr 2024

Viewed by 534

Abstract

Background: Neurological disorders, particularly those associated with aging, pose significant challenges in early diagnosis and treatment. The identification of specific biomarkers, such as platelets (PLTs), has emerged as a promising strategy for early detection and intervention in neurological health. This systematic review aims [...] Read more.

Background: Neurological disorders, particularly those associated with aging, pose significant challenges in early diagnosis and treatment. The identification of specific biomarkers, such as platelets (PLTs), has emerged as a promising strategy for early detection and intervention in neurological health. This systematic review aims to explore the intricate relationship between PLT dynamics and neurological health, focusing on their potential role in cognitive functions and the pathogenesis of cognitive disorders. Methods: Adhering to PRISMA guidelines, a comprehensive search strategy was employed in the PubMed and Scholar databases to identify studies on the role of PLTs in neurological disorders published from 2013 to 2023. The search criteria included studies focusing on PLTs as biomarkers in neurological disorders, their dynamics, and their potential in monitoring disease progression and therapy effectiveness. Results: The systematic review included 104 studies, revealing PLTs as crucial biomarkers in neurocognitive disorders, acting as inflammatory mediators. The findings suggest that PLTs share common features with altered neurons, which could be utilised for monitoring disease progression and evaluating the effectiveness of treatments. PLTs are identified as significant biomarkers for detecting neurological disorders in their early stages and understanding the pathological events leading to neuronal death. Conclusions: The systematic review underscores the critical role of PLTs in neurological disorders, highlighting their potential as biomarkers for the early detection and monitoring of disease progression. However, it also emphasises the need for further research to solidify the use of PLTs in neurological disorders, aiming to enhance early diagnosis and intervention strategies. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Figure 1

14 pages, 504 KiB

Open AccessSystematic Review

Exploring the Insomnia–Ischemic Stroke Nexus: A Comprehensive Review

by Andreia Matas, Nuno Pinto, Bebiana Conde and Maria Vaz Patto

J. Clin. Med. 2024, 13(6), 1622; https://doi.org/10.3390/jcm13061622 - 12 Mar 2024

Viewed by 818

Abstract

Background: This study investigates the relationship between sleep patterns and ischemic stroke beyond the predominant focus on obstructive sleep apnea. Through a systematic review of the existing literature, we aim to elucidate the connections between insomnia, sleep duration, cardiovascular factors, and ischemic stroke [...] Read more.

Background: This study investigates the relationship between sleep patterns and ischemic stroke beyond the predominant focus on obstructive sleep apnea. Through a systematic review of the existing literature, we aim to elucidate the connections between insomnia, sleep duration, cardiovascular factors, and ischemic stroke onset. Methods: We searched databases, including MEDLINE, SciELO, Scopus, and Science Direct, using an adapted PICO framework. Using a search strategy with MeSH words, keywords, and expressions related to insomnia and stroke, we included clinical trials and analytical observational epidemiological studies, comprising cohort, case–control, and cross-sectional studies. Results: Following the initial search, we identified 984 records, with 779 titles and abstracts screened for eligibility after removing duplicates. From these, 63 full-text articles, including 5 in the data synthesis, were reviewed. Our findings highlight a significant correlation between poor sleep quality, extreme sleep durations, and a heightened risk of ischemic stroke, along with established cardiovascular risk factors, such as hypertension, hyperlipidemia, obesity, and diabetes. Conclusions: This systematic review offers a comprehensive analysis of ischemic stroke prevalence and its association with cardiovascular factors, such as hypertension, hyperlipidemia, obesity, and diabetes. It suggests that poor sleep quality and extreme sleep durations, particularly long ones, are linked to a heightened risk of ischemic stroke. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Graphical abstract

12 pages, 396 KiB

Open AccessSystematic Review

The Lack of Ad Hoc Neuropsychological Assessment in Adults with Neurofibromatosis: A Systematic Review

by Giuseppa Maresca, Carmen Bonanno, Isabella Veneziani, Viviana Lo Buono, Desirèe Latella, Angelo Quartarone, Silvia Marino and Caterina Formica

J. Clin. Med. 2024, 13(5), 1432; https://doi.org/10.3390/jcm13051432 - 01 Mar 2024

Viewed by 575

Abstract

Background: Neurofibromatosis Type 1 (NF1) is a genetic autosomal dominant disorder that affects both the central and peripheral nervous systems. Children and adolescents with NF1 commonly experience neuropsychological, motor, and behavioral deficits. The cognitive profile hallmark of this disorder includes visuospatial and executive [...] Read more.

Background: Neurofibromatosis Type 1 (NF1) is a genetic autosomal dominant disorder that affects both the central and peripheral nervous systems. Children and adolescents with NF1 commonly experience neuropsychological, motor, and behavioral deficits. The cognitive profile hallmark of this disorder includes visuospatial and executive function impairments. These cognitive disorders may persist into adulthood. This study aims to analyze previous research studies that have described cognitive dysfunctions in adults with NF1. The purpose of this analysis is to review the neuropsychological and psychological assessment methods used. Methods: A total of 327 articles were identified based on the search terms in their titles and abstracts. The evaluation was conducted by scrutinizing each article’s title, abstract, and text. Results: Only 16 articles were found to be eligible for inclusion based on the pre-defined criteria. The selected studies primarily focus on the development of diagnostic protocols for individuals with NF1. Conclusions: The management of NF1 disease requires a multidisciplinary approach to address symptoms, preserve neurological functions, and ensure the best possible quality of life. However, cognitive impairment can negatively affect psychological well-being. This study suggested that cognitive functions in NF1 patients were not tested using specific measures, but rather were evaluated through intelligence scales. Additionally, the findings revealed that there is no standardized neuropsychological assessment for adults with NF1. To address this gap, it would be helpful to create a specific neuropsychological battery to study cognitive function in NF1 patients during clinical studies. This battery could also serve as a tool to design models for cognitive rehabilitation by using reliable and sensitive measures of cognitive outcomes. Full article

(This article belongs to the Special Issue Review Special Issue Series: Current Advances in Clinical Neurology)

► Show Figures

Figure 1

Journal Menu

Journal Browser

Review Special Issue Series: Current Advances in Clinical Neurology

Share This Special Issue

Special Issue Editor

Special Issue Information

Keywords

Published Papers (10 papers)

Review

Other

Further Information

Guidelines

MDPI Initiatives

Follow MDPI