A5009821300- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Amyotrophic Lateral Sclerosis Research
- Artificial Intelligence in Healthcare and Education
- Radiomics and Machine Learning in Medical Imaging
- Neuroinflammation and Neurodegeneration Mechanisms
- RNA regulation and disease
- AI in cancer detection
- Mitochondrial Function and Pathology
- COVID-19 diagnosis using AI
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Dementia and Cognitive Impairment Research
- Peripheral Neuropathies and Disorders
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Nuclear Receptors and Signaling
- Botulinum Toxin and Related Neurological Disorders
- Neurological and metabolic disorders
- Cerebrovascular and genetic disorders
- Digital Imaging for Blood Diseases
- Brain Tumor Detection and Classification
Jacksonville College
2016-2025
Mayo Clinic in Florida
2016-2025
Hospital of the University of Pennsylvania
2023-2025
WinnMed
2015-2024
Kansai Medical University
2023
Kobe University
2023
Mayo Clinic in Arizona
2018-2022
University of Pennsylvania
2021
VIB-UAntwerp Center for Molecular Neurology
2021
University of Antwerp
2021
To determine ways to improve diagnostic accuracy of multiple system atrophy (MSA), we assessed the process in patients who came autopsy with antemortem diagnosis MSA by comparing clinical and pathologic features between those proved have did not. We focus on likely explanations for misdiagnosis.This is a retrospective review 134 consecutive an neuropathologic evaluation brain. Of patients, 125 had adequate medical records review. Clinical were compared autopsy-confirmed other diagnoses,...
Diverse neurodegenerative disorders are characterized by deposition of tau fibrils composed conformers (i.e. strains) unique to each illness. The development imaging agents has enabled visualization lesions in tauopathy patients, but the modes their binding different strains remain elusive. Here we compared positron emission tomography ligands, PBB3 and AV-1451, fluorescence, autoradiography homogenate assays with homologous heterologous blockades using brain samples. Fluorescence microscopy...
No treatment for frontotemporal dementia (FTD), the second most common type of early-onset dementia, is available, but therapeutics are being investigated to target 2 main proteins associated with FTD pathological subtypes: TDP-43 (FTLD-TDP) and tau (FTLD-tau). Testing potential therapies in clinical trials hampered by our inability distinguish between patients FTLD-TDP FTLD-tau. Therefore, we evaluated truncated stathmin-2 (STMN2) as a proxy pathology, given reports that dysfunction causes...
<h3>Background</h3> POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes) syndrome, a rare cause of demyelinating neuropathy associated with multiorgan involvement, has been increasingly recognised. Polyneuropathy is often an initial manifestation therefore the disorder can be misdiagnosed as chronic inflammatory polyneuropathy (CIDP). <h3>Objective</h3> To elucidate whether syndrome CIDP are differentiated based on profiles neuropathy. <h3>Methods</h3> Clinical...
<h3>Objective</h3> The aim of this study was to investigate whether axonal excitability indices are associated with survival in patients amyotrophic lateral sclerosis (ALS). Previous nerve studies suggested increased persistent sodium currents motor axons ALS, which lead hyperexcitability and potentially enhance neuronal death. <h3>Methods</h3> 112 sporadic ALS were followed up until endpoint (death or tracheostomy). Multivariate analyses performed using the Cox proportional hazard model....
Abstract Apolipoprotein E ( APOE ) ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease mainly by modulating amyloid-β pathology. also shown to exacerbate neurodegeneration and neuroinflammation in a tau transgenic mouse model. To further evaluate association of genotype with presence severity pathology, we express human via an adeno-associated virus gene delivery approach targeted replacement mice. We find increased hyperphosphorylated species, aggregates,...
ABSTRACT Background The objectives of this study were to elucidate any potential association between α‐synuclein pathology and cognitive impairment determine the profile in multiple system atrophy (MSA) patients. To do this, we analyzed clinical pathologic features autopsy‐confirmed MSA Methods We retrospectively reviewed medical records, including neuropsychological test data, 102 patients with Mayo Clinic brain bank. burden glial cytoplasmic inclusions neuronal semiquantitatively scored...
Women reportedly make up two-thirds of Alzheimer's disease (AD) dementia sufferers. Many estimates regarding AD, however, are based on clinical series lacking autopsy confirmation. The Florida Autopsied Multi-Ethnic (FLAME) cohort was queried for AD cases with a total 1625 identified ranging in age from 53 to 102 years at death. Standard neuropathologic procedures were employed and information retrospectively collected. Clinicopathologic genetic data (MAPT APOE) stratified by sex. Within the...
Abstract Aims This study aimed to develop a deep learning‐based model for differentiating tauopathies, including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and Pick's (PiD), based on tau‐immunostained digital slide images. Methods We trained the YOLOv3 object detection algorithm detect five tau lesion types: neuronal inclusions, neuritic plaques, tufted astrocytes, astrocytic plaques coiled bodies. used 2522 images of CP13‐immunostained...
Abstract To uncover molecular changes underlying blood-brain-barrier dysfunction in Alzheimer’s disease, we performed single nucleus RNA sequencing 24 disease and control brains focused on vascular astrocyte clusters as main cell types of gliovascular-unit. The majority the transcriptional were pericytes. Of targets predicted to interact with astrocytic ligands, SMAD3 , upregulated pericytes, has highest number ligands including VEGFA downregulated astrocytes. We validated these findings...
Abstract Aims Recent advances in artificial intelligence, particularly with large language models like GPT‐4Vision (GPT‐4V)—a derivative feature of ChatGPT—have expanded the potential for medical image interpretation. This study evaluates accuracy GPT‐4V classification tasks histopathological images and compares its performance a traditional convolutional neural network (CNN). Methods We utilised 1520 images, including haematoxylin eosin staining tau immunohistochemistry, from patients...
Department of Pathology and Laboratory Medicine, Hospital the University Pennsylvania, Philadelphia, PA, USA *Correspondence to: Shunsuke Koga, MD, PhD, [email protected] This is an open-access article distributed under terms Creative Commons Attribution-Noncommercial-Share Alike 4.0 Unported, which permits unrestricted use, distribution, reproduction in any medium, provided original work properly cited.
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder characterized by fibrofolliculomas, renal tumors, and pulmonary cysts with recurrent pneumothorax. Multiple pneumothorax are the key signs for diagnosing BHD syndrome. The pathologic features of cysts, however, poorly understood. This caused mutations in gene that encodes folliculin (FLCN). FLCN regarded as a tumor suppressor; it mediates cellular activities interacting mammalian target rapamycin (mTOR). In this study, we...
ABSTRACT Background Cerebellar ataxia is an exclusion criterion for the clinical diagnosis of progressive supranuclear palsy, but a variant with predominant cerebellar has been reported. The aims this study were to estimate frequency palsy in autopsy series from United States and compare clinical, pathologic, genetic differences between without ataxia. Method We selected 100 consecutive patients pathologically confirmed who had evaluated at Mayo Clinic (referred as patient series) our brain...