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Diagnostics
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Pathology and Diagnosis of Neurological Disorders
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Pathology and Diagnosis of Neurological Disorders

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

Deadline for manuscript submissions: closed (28 February 2025) | Viewed by 4300

Special Issue Editor

Dr. James Yip

E-Mail Website
Guest Editor
Division of Hematopathology, Department of Pathology and Laboratory Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, 2200 Northern Blvd, Suite 104, Greenvale, NY 11548, USA
Interests: neuroprotection; stroke; gluconeogenesis; NK cells; T cells; CNS neoplasm; hematolymphoid neoplasm; immunopathology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurological disorders encompass a broad range of topics in medicine that deal with the study of diseases of the nervous system. This includes the study of the pathology, diagnosis and treatment of disorders that can be broadly classified into those affecting the central nervous system (CNS) and those that affect the peripheral nervous system (PNS). CNS disorders include conditions such as neurodegenerative diseases, brain tumors, infections and traumatic brain injury, while PNS disorders include peripheral neuropathy, myopathy and motor neuron disease.

This Special Issue of Diagnostics seeks to provide the global community with key reviews and original articles from disciplines spanning an array of topics that critically impact the field of neurological disorders, ranging from vascular stroke to malignant neoplasms. Articles in this issue will touch on broad topics, yet offer focused and specific details. Our goal is to address, amongst other aspects, the diagnostic techniques, fundamental mechanisms, molecular pathology and biomarkers, artificial intelligence and innovative treatment options in the field of neurological disorders. Experts in the areas of diagnostics, pathology and therapies will detail current standards, provide data from novel studies and guide future directions that may soon become critical to our understanding of these disorders. We look forward to and welcome your invaluable work for this issue.

Dr. James Yip
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.

Keywords

  • stroke
  • CNS tumors
  • neurodegenerative diseases
  • traumatic brain injury

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Published Papers (3 papers)

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Research

13 pages, 1928 KiB  
Article
Non-Optic Glioma-like Lesions in Adult Neurofibromatosis Type 1 Patients
by Walter Taal, Bart Zick, Bart J. Emmer and Martin J. van den Bent
Diagnostics 2025, 15(1), 67; https://doi.org/10.3390/diagnostics15010067 - 30 Dec 2024
Viewed by 772
Abstract
Background/Objectives: Physicians face clinical dilemmas in the diagnosis of non-optic intraparenchymal lesions on MRI brain scans of patients with neurofibromatosis type 1. As the incidence and evolution of these lesions into adulthood remain unclear, we conducted a retrospective study on this topic. Methods: [...] Read more.
Background/Objectives: Physicians face clinical dilemmas in the diagnosis of non-optic intraparenchymal lesions on MRI brain scans of patients with neurofibromatosis type 1. As the incidence and evolution of these lesions into adulthood remain unclear, we conducted a retrospective study on this topic. Methods: All adult neurofibromatosis type 1 patients who had at least one MRI brain scan in our center were selected for this study. Brain lesions with contrast enhancement after gadolinium administration and/or mass effect were named “glioma-like lesions”. Results: In our cohort of 396 adult neurofibromatosis type 1 patients, 182 had at least one MRI scan of the brain. A total of 48 glioma-like lesions were found in 38/182 patients. The majority of glioma-like lesions remained stable, decreased in size or even disappeared during a median follow-up time of 8.5 years. Twelve glioma-like lesions in 11/182 patients were resected or biopsied, and histology showed gliomas of astrocytic origin (WHO grade 1–4). Conclusions: It was concluded from these data that asymptomatic glioma-like lesions on MRI brain scans in neurofibromatosis type 1 patients, either with contrast enhancement and/or mass effect, had an indolent nature. Mildly symptomatic or asymptomatic patients can therefore be followed without invasive diagnostic and therapeutic procedures. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Neurological Disorders)
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14 pages, 4446 KiB  
Article
Clinico–Pathological Features of Diffuse Midline Glioma, H3 K27-Altered in Adults: A Comprehensive Review of the Literature with an Additional Single-Institution Case Series
by Giuseppe Broggi, Serena Salzano, Maria Failla, Giuseppe Maria Vincenzo Barbagallo, Francesco Certo, Magda Zanelli, Andrea Palicelli, Maurizio Zizzo, Nektarios Koufopoulos, Gaetano Magro and Rosario Caltabiano
Diagnostics 2024, 14(23), 2617; https://doi.org/10.3390/diagnostics14232617 - 21 Nov 2024
Viewed by 1146
Abstract
Background: Diffuse midline glioma (DMG), H3 K27-altered, is a WHO grade 4 malignant glioma located at midline structures, including the thalamus, brainstem and spinal cord. While H3 K27-altered DMG is more common in pediatric age in which it shows a uniformly aggressive clinical [...] Read more.
Background: Diffuse midline glioma (DMG), H3 K27-altered, is a WHO grade 4 malignant glioma located at midline structures, including the thalamus, brainstem and spinal cord. While H3 K27-altered DMG is more common in pediatric age in which it shows a uniformly aggressive clinical behavior, its occurrence is relatively unusual among adults, and its clinico–pathological and prognostic features are not fully characterized in this age group. Methods: In this present paper, a review of the literature, including all cases of adult H3 K27-altered DMG published from January 2010 to December 2023 was performed, and the following clinical parameters were evaluated: sex, age (median and range), anatomic site, median follow-up, leptomeningeal dissemination, local recurrence and treatment. In addition, the clinico–pathological features of three additional adult cases from our retrospective series were also reported and discussed. Results: All tumors from our series exhibited a high-grade morphology with brisk mitotic activity; microvascular proliferation and necrosis were seen only in one case. The immunohistochemical loss of H3 K27me3 along with diffuse and strong immunoreactivity for H3 K27M was found in all cases, leading to the diagnosis of H3 K27-altered DMG. Conclusions: The literature review showed that adult H3 K27-altered DMG more frequently occurred in males aged between 18 and 40 years. The thalamus was the most affected site, followed by the brainstem and spinal cord, in both sex groups. Adult tumors exhibited less aggressive clinical behavior, with leptomeningeal dissemination and local recurrence reported in only 23.78% and 37.75% of cases, respectively. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Neurological Disorders)
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12 pages, 1845 KiB  
Article
Eyes as Windows: Unveiling Neuroinflammation in Multiple Sclerosis via Optic Neuritis and Uhthoff’s Phenomenon
by Andreea Pleșa, Florina Anca Antochi, Mioara Laura Macovei, Alexandra-Georgiana Vîrlan, Ruxandra Georgescu, David-Ionuț Beuran, Săndica Nicoleta Bucurica, Carmen Adella Sîrbu, Any Axelerad and Florentina Cristina Pleșa
Diagnostics 2024, 14(19), 2198; https://doi.org/10.3390/diagnostics14192198 - 2 Oct 2024
Viewed by 1605
Abstract
Background/Objectives: This study investigated the frequency and timing of optic neuritis (ON) episodes in relation to the onset of multiple sclerosis (MS) and examined the occurrence of Uhthoff’s phenomenon and Lhermitte’s sign to understand their roles in early diagnosis and disease progression. [...] Read more.
Background/Objectives: This study investigated the frequency and timing of optic neuritis (ON) episodes in relation to the onset of multiple sclerosis (MS) and examined the occurrence of Uhthoff’s phenomenon and Lhermitte’s sign to understand their roles in early diagnosis and disease progression. Methods: A longitudinal study was conducted with 127 MS patients. Clinical data, including ophthalmological examinations for ON, were collected and questionnaires assessed the presence of Uhthoff’s phenomenon and Lhermitte’s sign. Results: Results showed that 37% of patients experienced demyelinating retrobulbar ON, with 25.53% having ON as the initial symptom of MS. Residual visual acuity impairment (below 20/40) and dyschromatopsia were reported by 25.53% and 17.02% of patients, respectively. Uhthoff’s phenomenon and Lhermitte’s sign were present in 26.77% and 36.22% of patients, respectively. The findings underscore the importance of early ophthalmological assessments in diagnosing MS, as ON can be an initial indicator of the disease. Conclusions: The study highlights the need for precise diagnostic tools and personalized therapeutic strategies focused on specific biomarkers and pathways involved in neuroinflammation and demyelination. Early diagnosis through vigilant ophthalmologic evaluation can lead to interventions that significantly alter disease progression, improving patient outcomes and quality of life. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Neurological Disorders)
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