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Diagnostics
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Advances in the Diagnosis of Nervous System Diseases—2nd Edition
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Advances in the Diagnosis of Nervous System Diseases—2nd Edition

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 30 June 2024 | Viewed by 3607

Special Issue Editor

Dr. Vasileios T. Papaliagkas

E-Mail Website
Guest Editor
Department of Biomedical Sciences, School of Health Sciences, International Hellenic University, Thessaloniki, Greece
Interests: Alzheimer’s disease; neurodegenerative diseases; clinical neurophysiology; event-related potentials
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The diagnosis of neurological diseases is one of the most difficult challenges for medical professionals, due to the complexity of the nervous system. Currently, more than 600 diseases have been identified, including neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease, cerebrovascular diseases and others, such as multiple sclerosis, migraines, neuroinfections and neuromuscular diseases [1]. According to the World Health Organization report, nervous system diseases affect up to one billion people worldwide [2]. Several methods, such as magnetic resonance imaging, CSF biomarkers, and genetic and neurophysiological tests, provide useful information for the diagnosis of neurological diseases.

In this Special Issue entitled “Advances in the Diagnosis of Nervous System Diseases—2nd Edition”, we invite investigators to contribute original research or review articles that focus on the role of tests or biomarkers (molecular, neuroimaging, genetic and neurophysiological) in the diagnosis of nervous system diseases.

References

  1. Mott, M.; Koroshetz, W. Bridging the Gap in Neurotherapeutic Discovery and Development: The Role of the National Institute of Neurological Disorders and Stroke in Translational Neuroscience. Neurotherapeutics 2015, 12, 651–654. https://doi.org/10.1007/s13311-015-0366-6.
  2. World Health Organisation. Neurological Disorders: Public Health Challenges; World Health Organization: Geneva, Switzerland, 2007.

Dr. Vasileios T. Papaliagkas
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

 

Published Papers (4 papers)

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Research

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13 pages, 50931 KiB  
Article
Diagnostic Insights into Pediatric Pleomorphic Xanthoastrocytoma through DNA Methylation Class and Pathological Diagnosis Analysis
by Murad Alturkustani
Diagnostics 2023, 13(22), 3464; https://doi.org/10.3390/diagnostics13223464 - 17 Nov 2023
Viewed by 783
Abstract
This study adopts an innovative approach to utilize the DNA methylation class (MC) by prioritizing the understanding of discrepancies over traditional direct comparisons with the pathological diagnosis (PD). The aim is to clarify the morphological criteria for pleomorphic xanthoastrocytoma (PXA). Using the Children’s [...] Read more.
This study adopts an innovative approach to utilize the DNA methylation class (MC) by prioritizing the understanding of discrepancies over traditional direct comparisons with the pathological diagnosis (PD). The aim is to clarify the morphological criteria for pleomorphic xanthoastrocytoma (PXA). Using the Children’s Brain Tumor Network online database, PXA-diagnosed cases were sourced. MCs and CDKN2A/B statuses were ascertained using the Heidelberg methylation brain tumor classifier v12.5 (v12.8 for selected cases). Three distinct groups emerged: Group 1 confirmed PXA through both PD and MC (7 cases); Group 2 identified PXA via PD alone (7 cases); and Group 3 diagnosed PXA using MC (5 cases). Key insights from the study include the frequent local infiltration of PXA into gray matter structures, mirroring infiltrative astrocytoma. The MC for PXA stands out for its sensitivity. Cases with a PXA morphological diagnosis diverging from the DNA class warrant attention to newer differential diagnoses such as high-grade astrocytoma with piloid features, pilocytic astrocytoma NF1-associated, and NET-PATZ1. Tumors with a MC indicative of PXA but lacking its typical features may, if high-grade, behave as grade 4 gliomas. In contrast, their low-grade counterparts could belong to the PXA morphological continuum. Further research is pivotal for cementing these findings. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—2nd Edition)
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Review

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12 pages, 494 KiB  
Review
The Genetic Landscape of Sleep Disorders in Parkinson’s Disease
by Kallirhoe Kalinderi, Vasileios Papaliagkas and Liana Fidani
Diagnostics 2024, 14(1), 106; https://doi.org/10.3390/diagnostics14010106 - 03 Jan 2024
Cited by 2 | Viewed by 1070
Abstract
Parknson’s disease (PD) is the second most common neurodegenerative disease, affecting 1% of people aged over 60. PD is characterized by a wide range of motor symptoms, however the clinical spectrum of PD covers a wide range of non-motor symptoms, as well. Sleep [...] Read more.
Parknson’s disease (PD) is the second most common neurodegenerative disease, affecting 1% of people aged over 60. PD is characterized by a wide range of motor symptoms, however the clinical spectrum of PD covers a wide range of non-motor symptoms, as well. Sleep disorders are among the most common non-motor symptoms of PD, can occur at any stage of the disease and significantly affect quality of life. These include rapid eye movement sleep behavior disorder (RBD), restless legs syndrome (RLS), excessive daytime sleepiness (EDS), insomnia, obstructive sleep apnea (OSA) and circadian rhythm disturbances. One of the main challenges in PD research is identifying individuals during the prodromal phase of the disease. Combining genetic and prodromal data may aid the early identification of individuals susceptible to PD. This review highlights current data regarding the genetic component of sleep disorders in PD patients, focusing on genes that have currently been associated with this PD co-morbidity. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—2nd Edition)
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Other

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9 pages, 6617 KiB  
Case Report
Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies
by Dana Elena Mîndru, Elena Țarcă, Elena Emanuela Braha, Alexandrina-Ștefania Curpăn, Solange Tamara Roșu, Dana-Teodora Anton-Păduraru, Heidrun Adumitrăchioaiei, Valentin Bernic, Ioana-Alexandra Pădureț and Alina Costina Luca
Diagnostics 2024, 14(5), 491; https://doi.org/10.3390/diagnostics14050491 - 24 Feb 2024
Viewed by 604
Abstract
Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births. The underlying genotype is comprised GLB1 mutations that lead to β-galactosidase deficiency and subsequently to the accumulation of monosialotetrahexosylganglioside (GM1) in [...] Read more.
Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births. The underlying genotype is comprised GLB1 mutations that lead to β-galactosidase deficiency and subsequently to the accumulation of monosialotetrahexosylganglioside (GM1) in the brain and other organs. In total, two diseases have been linked to this gene mutation: Morquio type B and Gangliosidosis. The most frequent clinical manifestations include dysmorphic facial features, nervous and skeletal systems abnormalities, hepatosplenomegaly, and cardiomyopathies. The correct diagnosis of GM1 is a challenge due to the overlapping clinical manifestation between this disease and others, especially in infants. Therefore, in the current study we present the case of a 3-month-old male infant, admitted with signs and symptoms of respiratory distress alongside rapid progressive heart failure, with minimal neurologic and skeletal abnormalities, but with cardiovascular structural malformations. The atypical clinical presentation raised great difficulties for our diagnostic team. Unfortunately, the diagnostic of GM1 was made postmortem based on the DBS test and we were able to correlate the genotype with the unusual phenotypic findings. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—2nd Edition)
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5 pages, 4055 KiB  
Interesting Images
CNS Involvement of DLBCL Presenting with an Unusual Non-Enhancing Infiltrative Mass
by Fu-Sheng Hsueh, Hung-Chieh Chen and Huey-En Tzeng
Diagnostics 2023, 13(22), 3424; https://doi.org/10.3390/diagnostics13223424 - 10 Nov 2023
Viewed by 770
Abstract
Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is relatively uncommon, occurring in approximately 5% of cases, with the majority of instances manifesting during relapse and often associated with poor prognoses. The aim of this case report is to present [...] Read more.
Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is relatively uncommon, occurring in approximately 5% of cases, with the majority of instances manifesting during relapse and often associated with poor prognoses. The aim of this case report is to present a unique occurrence of non-enhancing relapse of CNS lymphoma. Significantly, the patient had recently encountered a disease involvement in the axilla region, and subsequent to scheduled chemotherapy, she developed persistent neurological symptoms, leading to the discovery of a relapse of the CNS lymphoma. Our focus will be on delineating the clinical presentation, elucidating the findings observed in clinical imaging, and detailing the therapeutic approaches employed in this specific case. By highlighting these aspects, we aim to provide valuable insights into the diagnosis of the atypical presentation of CNS lymphoma. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—2nd Edition)
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