Free neuropathology最新文献

{"title":"Glioneuronal heterotopia in the right middle cranial fossa.","authors":"Emilie Russler-Germain, Shamaita Majumdar, Theresa Nguyen, Keiko Hirose, Peter H Yang, Ali Mian, Sonika Dahiya","doi":"10.17879/freeneuropathology-2024-5845","DOIUrl":"10.17879/freeneuropathology-2024-5845","url":null,"abstract":"","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"28"},"PeriodicalIF":0.0,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11650708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Regression of multiple intracranial meningiomas after cessation of long-term synthetic progesterone (megestrol) medication: case report and autopsy.","authors":"Tamadar A AlDoheyan, Marc R Del Bigio","doi":"10.17879/freeneuropathology-2024-5813","DOIUrl":"10.17879/freeneuropathology-2024-5813","url":null,"abstract":"<p><p>We report the history of a woman who developed four intracranial meningiomas during 11 years of therapy with the synthetic progesterone agonist megestrol. After discontinuation of the drug at age 75 years, she improved clinically and a CT scan showed near complete regression of the meningiomas by 78 years. Autopsy was performed at 83 years of age following an accidental death. At the tumor sites, we found both collagenous tissue with small islands of low grade meningioma having strong nuclear immunoreactivity for progesterone receptor and lipomatous tissue. A literature review showed similar cases of radiologic meningioma regression following discontinuance of progestins. Our case is the first one with histopathologic characterization of the end point.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"27"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurotrauma: 2024 update.","authors":"David S Priemer, Daniel P Perl","doi":"10.17879/freeneuropathology-2024-5849","DOIUrl":"10.17879/freeneuropathology-2024-5849","url":null,"abstract":"<p><p>2023 was an important year for research in traumatic brain injury (TBI), particularly as it concerned interests in neuropathology. After reviewing the literature, we present the advancements that we felt were of particular importance to the neuropathology community. Highlighted are articles that report upon: (1) the first large-cohort assessment for the neuropathology of intimate partner violence, (2) the assessment of chronic traumatic encephalopathy (CTE) in young athletes, (3) the observation of cortical sulcal depth vascular changes in CTE, (4) a proposal for a tau immunohistochemical panel to evaluate complex cases of CTE in the context of multiple tauopathies, (5) the relationship of TBI and/or CTE with TDP-43 pathology, (6) repetitive TBI inducing pathology in <i>C9orf72</i>-transgenic mice, (7) radiologic patterns of head and neck injury following vehicular underbody blast exposure, (8) chronic alterations in brain metal content following repetitive impact TBI, (9) neurovascular unit injury following low-level blast exposure, and finally (10) an assessment of Muhammad Ali's clinical history leading to the conclusion that he suffered from young-onset, idiopathic Parkinson Disease. We close our writing with in memoriam to Dr. Byron A. Kakulas, a renowned figure in the neuropathology of spinal cord injury who we lost in 2023.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"26"},"PeriodicalIF":0.0,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11499945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infantile pilocytic astrocytoma with persisting external granular layer of the cerebellum: a potential diagnostic pitfall.","authors":"Arnault Tauziède-Espariat, Lauren Hasty, Alice Métais, Pascale Varlet","doi":"10.17879/freeneuropathology-2024-5891","DOIUrl":"10.17879/freeneuropathology-2024-5891","url":null,"abstract":"","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"25"},"PeriodicalIF":0.0,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11491936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of intraepidermal nerve fiber densities in 5 µm sections from arm and leg - a search for normative age-related values.","authors":"Linnéa Ekman, Lars B Dahlin, Elisabet Englund","doi":"10.17879/freeneuropathology-2024-5815","DOIUrl":"10.17879/freeneuropathology-2024-5815","url":null,"abstract":"<p><p><i>Background and aims:</i> Normative values are lacking regarding intraepidermal nerve fiber density (IENFD) in thin sections of 5 µm. Thus, we aimed to assess IENFD in thin sections in a healthy adult population as well as to investigate whether IENFD is related to age, sex, and site of excision. <i>Methods:</i> Archival skin biopsies or excisions at the Department of Pathology, Lund, Sweden, from arm and leg were collected, re-sectioned, and immunohistochemically stained for Protein Gene Product 9.5 during 2020-2023. Nerve fibers were manually quantified in the 5 µm thin sections, and IENFD was compared between age groups, sex, and excision sites. <i>Results:</i> IENFDs were evaluated in 602 samples from 591 healthy adults aged 18 to 97 years (295 women, 296 men). Median IENFD values are presented, stratified by age groups, sex, and excision sites. Higher IENFD was observed in the arm compared to the leg, as well as in the proximal compared to the distal leg, however not across all age groups. Levels of IENFD were lower among older adults, compared to all younger groups. <i>Conclusion:</i> We have presented data on IENFD in thin 5 µm sections from a healthy adult population. Despite differences in IENFD observed across age groups, sexes, and excision sites, no strong conclusions regarding affecting factors could be drawn except that individuals > 65 years present with lower IENFD. Additional research and development of the method are warranted.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"24"},"PeriodicalIF":0.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11481297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>YAP1</i> fusion-positive ependymoma presenting in an adult with a pigmented phenotype and association with superficial siderosis.","authors":"Osorio Lopes Abath Neto, Leonardo Furtado Freitas, Martha Quezado, Zied Abdullaev, Kenneth Aldape","doi":"10.17879/freeneuropathology-2024-5817","DOIUrl":"10.17879/freeneuropathology-2024-5817","url":null,"abstract":"","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"23"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11467751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Striking intraneuronal neurofilament inclusions restricted to the locus coeruleus in a patient with Creutzfeldt-Jakob disease.","authors":"Felix Leitner, Sigrid Klotz, Karoline Ornig, Serge Weis, Ellen Gelpi","doi":"10.17879/freeneuropathology-2024-5721","DOIUrl":"10.17879/freeneuropathology-2024-5721","url":null,"abstract":"","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"22"},"PeriodicalIF":0.0,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurooncology: 2024 update.","authors":"Michel Mittelbronn","doi":"10.17879/freeneuropathology-2024-5809","DOIUrl":"10.17879/freeneuropathology-2024-5809","url":null,"abstract":"<p><p>As in previous years, including 2023, a major focus in the neurooncological area of neuropathology was put on more precise and constantly faster diagnostic procedures, even reaching the level of ultra-fast intraoperative diagnostics based on methylation profiling. Neuropathological diagnostic precision and clinical follow-up treatment has been further increased by combining DNA methylation profiling with targeted panel sequencing. A few new, molecularly defined tumor subtypes have been proposed, among others, a glioneuronal tumor with <i>ATRX</i> alteration, kinase fusion and anaplastic features (in its abbreviated form named GTAKA) and the de novo replication repair deficient glioblastoma, IDH-wildtype both having either distinct prognostic or therapeutic implications. Regarding the understanding of brain tumor development and progression, several novel mechanisms have been presented which might also be considered as treatment targets in the future, such as a) autonomous rhythmical Ca²⁺ oscillations in interconnected glioma cell networks driving tumor growth; b) transfer of mitochondria from normal astrocytes to glioma cells enhancing proliferation and self-renewal; c) brain endothelial cell remodeling upon matrix-metalloprotease 9 secretion by tumor cells metastasizing into the CNS and d) anti-tumor activity of microglia in CNS metastasis of breast cancer. Finally, in contrast to previous years, several very promising neurooncological treatment studies have been conducted, focusing on specific targets such as H3K27M or IDH1/2 mutations for which a proper neuropathological assessment is key. The continuous translation of potential new treatment targets using faster and precise diagnostic procedures will further pave the way for better individualized clinical care of neurooncological patients.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"4 ","pages":"21"},"PeriodicalIF":0.0,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental disorders: 2024 update.","authors":"María Martínez de Lagrán, Karen Bascón-Cardozo, Mara Dierssen","doi":"10.17879/freeneuropathology-2024-5734","DOIUrl":"10.17879/freeneuropathology-2024-5734","url":null,"abstract":"<p><p>Neurodevelopmental disorders encompass a range of conditions such as intellectual disability, autism spectrum disorder, rare genetic disorders and developmental and epileptic encephalopathies, all manifesting during childhood. Over 1,500 genes involved in various signaling pathways, including numerous transcriptional regulators, spliceosome elements, chromatin-modifying complexes and <i>de novo</i> variants have been recognized for their substantial role in these disorders. Along with new machine learning tools applied to neuroimaging, these discoveries facilitate genetic diagnoses, providing critical insights into neuropathological mechanisms and aiding in prognosis, and precision medicine. Also, new findings underscore the importance of understanding genetic contributions beyond protein-coding genes and emphasize the role of RNA and non-coding DNA molecules but also new players, such as transposable elements, whose dysregulation generates gene function disruption, epigenetic alteration, and genomic instability. Finally, recent developments in analyzing neuroimaging now offer the possibility of characterizing neuronal cytoarchitecture <i>in vivo</i>, presenting a viable alternative to traditional post-mortem studies. With a recently launched digital atlas of human fetal brain development, these new approaches will allow answering complex biological questions about fetal origins of cognitive function in childhood. In this review, we present ten fascinating topics where major progress has been made in the last year.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"20"},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11382549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"68th Annual Meeting of the German Society of Neuropathology and Neuroanatomy (DGNN) - Meeting Abstracts: September 12-14, 2024, Regensburg, Germany.","authors":"","doi":"10.17879/freeneuropathology-2024-5842","DOIUrl":"10.17879/freeneuropathology-2024-5842","url":null,"abstract":"<p><p>Dear colleagues, It is my pleasure and honor to host the 68^th Annual Meeting of the German Society of Neuropathology and Neuroanatomy (DGNN) in Regensburg. Since the Magdeburg meeting in 2019 this is the first pure national meeting of our society that will be held in presence after five long years. While the meeting in 2020 was cancelled due to the Corona pandemic, the 2021 meeting (organized by the colleagues in Gießen) took place as a mere online meeting. In 2022 and 2023 our national society meetings were embedded in the \"Neurowoche\" and the International Congress of Neuropathology in Berlin. We are enthusiastic about this years' reunion of our society in Regensburg. In our Regensburg meeting, we aim to provide a comprehensive update on the major and hot topics in neuropathology. Neuropathologists address some of the currently most relevant and discussed health care issues, such as for example cancer, neuroimmunological diseases like Multiple Sclerosis, neurodegenerative diseases including Alzheimer's and Parkinson's, and muscle/nerve diseases. As tissue specialists, neuropathologists directly study diseases in human materials. Neuropathologists use state of-the-art methods to uncover disease processes on the molecular level. During our congress, we will hear a lot on the methodical progress made in this regard. Neuropathology is also becoming increasingly clinical as many of our scientific and diagnostic findings influence and directly guide treatment decisions. We were able to attract renowned national and international speakers and our meeting will allow for an intensive interchange both within our society and with our neighboring disciplines. Program highlights include a Pre-Congress hands-on Workshop on Next Generation Sequencing, a session on Molecular Tumorboards and a Mini-Symposium on Quality Assurance in Neuropathology. We are delighted about the submission of 31 abstracts covering the research fields Neurooncology, Neuroimmunology, Muscle/Nerve, Neurodegeneration, and Methods/Free Topics. The abstracts are published below in this edition of Free Neuropathology. I want to thank the scientific committee of our congress for helping in evaluating the submissions and selecting the poster talks and poster spotlight presentations. Many of the abstracts were submitted by our young researchers. They deserve our special attention! Posters will be exhibited throughout the entire congress and we will have plenty of time for poster viewing and discussions on Thursday evening at the Welcome Reception and at the main poster session on Friday at noon. So let me again welcome you all to our beautiful city of Regensburg. I am looking forward to inspiring talks, vivid discussions and enriching encounters with like-minded people. Yours, Prof. Dr. Markus J. Riemenschneider Regensburg University Hospital, Department of Neuropathology Congress President DGNN Annual Meeting 2024.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"5 ","pages":"19"},"PeriodicalIF":0.0,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11373330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}