A5062390342- Glioma Diagnosis and Treatment
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Cerebrovascular and genetic disorders
- Radiomics and Machine Learning in Medical Imaging
- Medical Imaging and Pathology Studies
- Antifungal resistance and susceptibility
- Neurological disorders and treatments
- Vasculitis and related conditions
- Lysosomal Storage Disorders Research
- SARS-CoV-2 and COVID-19 Research
- Dementia and Cognitive Impairment Research
- Chromatin Remodeling and Cancer
- Amyotrophic Lateral Sclerosis Research
- Brain Metastases and Treatment
- Glycogen Storage Diseases and Myoclonus
- Bone health and treatments
- Intracerebral and Subarachnoid Hemorrhage Research
- IgG4-Related and Inflammatory Diseases
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Bartonella species infections research
- Ocular Oncology and Treatments
- Cardiac Structural Anomalies and Repair
- Vascular Malformations Diagnosis and Treatment
Mayo Clinic in Arizona
2021-2025
University of Florida
2013-2024
Mayo Clinic
2020-2024
Mayo Clinic in Florida
2020-2024
Neurological Surgery
2024
WinnMed
2020-2024
University of Florida Health
2020
Alzheimer's disease (AD) is a complex neurodegenerative disorder that develops over decades. AD brain proteomics reveals vast alterations in protein levels and numerous altered biologic pathways. Here, we compare proteome network changes with the proteomes of amyloid β (Aβ)-depositing mice to identify conserved divergent networks identifying an Aβ responsome. Proteins most (M42) accumulate plaques, cerebrovascular (CAA), and/or dystrophic neuronal processes, overexpression two M42 proteins,...
Background: Clinical trials of anti-Aβ monoclonal antibodies in Alzheimer disease (AD) infer target engagement from Aβ positron emission tomography (PET) and/or fluid biomarkers such as cerebrospinal (CSF) Aβ42/40.However, these measure deposits indirectly incompletely.In contrast, postmortem neuropathologic assessments allow direct investigation treatment effects on brain and many other pathologic features.Methods: From a clinical trial dominantly inherited AD, we measured...
Background and Objectives Substance‐related impairment among healthcare professionals has significant public health implications, but little is known regarding factors associated with substance use initiation in this group. Methods In study, 105 (80% male), who ranged age from 24 to 68 years ( M = 47.1 years, SD 10.2) completed a self‐report questionnaire assessing at first use, education level means of access substances upon order initiation, reasons for continued use. Physicians (51%),...
Journal Article Expanding the spectrum of TERT promoter mutations in CNS tumors: A case series non-canonical Get access David J Cook, MD, MD Department Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States https://orcid.org/0009-0007-6196-4179 Search for other works by this author on: Oxford Academic PubMed Google Scholar Jorge Trejo-Lopez, Beth Pitel, MS, MS Neiladri Saha, Quantitative Health Sciences, Tejaswi Koganti, Jayson Hardcastle, PhD, PhD Stephanie Smoley,...
α-synuclein (αS) is the major component of several types brain pathological inclusions that define neurodegenerative diseases termed synucleinopathies. Central nervous system (CNS) inoculation studies using either in vitro polymerized αS fibrils or vivo derived lysates containing aggregates to induce progressive spread inclusion pathology animal disease models have supported notion mediated neurodegeneration can occur by a prion-like mechanism. We previously shown neonatal with preformed...
Abstract We report a highly significant correlation between human Alzheimer’s disease (AD) brain proteome changes and those in CRND8 APP695NL/F transgenic mice. Comparing protein observed the mice with co-expression networks derived from (AD), reveals both conserved divergent module changes. Many proteins most (M42, matrisome) accumulate plaques, cerebrovascular amyloid (CAA), dystrophic neuronal processes, or combination thereof. Overexpression of two M42 proteins, midkine (Mdk)...
Phosphaturic mesenchymal tumors (PMTs) are neoplasms associated with tumor-induced osteomalacia. Patients typically present pathologic fractures in the setting of chronic hypophosphatemic hyperphosphaturic osteomalacia, as well gradual muscle weakness, bone pain, and difficulty walking. Because their rarity nonspecific symptomatology, phosphaturic often go undiagnosed for years. Even when discovered on imaging, can be diagnostically challenging radiologists. tend to small located nearly...
Abstract The discovery of mutations associated with familial forms Alzheimer’s disease (AD), has brought imperative insights into basic mechanisms pathogenesis and progression allowed researchers to create animal models that assist in the elucidation molecular pathways development therapeutic interventions. Position 717 amyloid precursor protein (APP) is a hotspot for autosomal dominant AD (ADAD) valine isoleucine amino acid substitution (V717I) at this position was among first ADAD...
Pompe disease (PD) is a neuromuscular disorder caused by mutation in the acid alpha-glucosidase (GAA) gene. Patients with late-onset PD retain some GAA activity and present symptoms later life, fatality mainly associated respiratory failure. This case study presents diaphragm electrophysiology histological analysis of brainstem, spinal cord, diaphragm, from male patient diagnosed at age 35. The was wheelchair dependent 38, required nocturnal ventilation 40, 24-h noninvasive 43, passed away...
Abstract Human neurodegenerative diseases can be characterized as disorders of protein aggregation. As a key player in cellular autophagy and the ubiquitin proteasome system, p62 may represent an effective immunohistochemical target, well mechanistic operator, across proteinopathies. In this study, 2 novel mouse-derived monoclonal antibodies 5G3 2A5 raised against residues 360–380 human p62/sequestosome-1 were via application upon tissues derived from cases C9orf72-expansion spectrum...
Current treatment of metastatic bone prostate cancer with Docetaxel chemotherapy per CHAARTED trial is standard care. Timing CT and scintigraphy for evaluation successful lytic lesions not available in the literature. We present a case 70 year old male PSA 586 wide spread lesions, who underwent androgen deprivation therapy six cycles chemotherapy. The patient had clinically treatment. Contrast enhanced scan demonstrated sclerotic 2.5 at this point treatment; however, 99mTc-MDP remained...
Primary angiitis of the central nervous system (PACNS) is a rare form vasculitis. It diagnosis exclusion and often diagnosed post mortem on pathologic evaluation. Cerebral angiography can be suggestive, but biopsy required. Symptoms vary from headache to focal cranial nerve deficits. On more severe spectrum, patients present with ischemic rarely hemorrhagic stroke. We in this case report key clinical pearls regarding suspected diagnosis. Younger cortical hemorrhages may have PACNS instead...
Dilated perivascular spaces (PVSs) are common and easily recognized on imaging. However, rarer giant tumefactive PVSs (GTPVSs) can have unusual multilocular cystic configurations, often confused for other pathologic entities, including neoplasms, infarctions, neuroepithelial cysts. Because GTPVSs scarcely encountered even more infrequently operated upon, many radiologists unaware of the imaging features these lesions. Here, a case resected GTPVS is presented, highlighting both its radiologic...
We describe a case of non-traumatic macular hole in pediatric patient associated with numerous epiretinal lesions throughout the macula.
Adult primary leptomeningeal gliomatosis (PLG) is a rare, rapidly progressive and fatal disease characterized by prominent infiltration glial tumor without an identifiable parenchymal mass. The molecular profile of adult PLG has not been well-characterized. We report the clinical, pathological, findings six patients (five males one female), median age 58 years. All cases exhibited pathological enhancement at presentation. Leptomeningeal biopsy was diagnostic in five (of six) cases, revealing...
Isolated spinal pachymeningitis is rarely encountered in clinical practice. Narrowing down the specific cause individual patients challenging as possible etiologies are broad, there substantial overlap presentation, and obtaining adequate data complex, often affected by prior empiric treatments, including steroids. Here, we describe a rare patient with resulting subacute to chronic progressive lower extremity weakness eventually paraplegia. We discuss how obtained final diagnosis, provide...
To explore the value of neurofilament light chain (NfL) in plasma (NfL-p) contrast to CSF (NfL-c) as diagnostic marker multiple system atrophy (MSA), and assess NfL-p NfL-c clinical disease progression.
Abstract Pleomorphic xanthoastrocytomas (PXAs) harbor CDKN2A homozygous deletion in >90% of cases, resulting loss p16 expression by immunohistochemistry. Considering the proximity MTAP to and their frequent concurrent deletions, may be a surrogate for deletion. We evaluated 38 patient PXAs (CNS WHO grade 2: n = 23, 60.5%; 3: 15, 39.5%) with available chromosomal microarray data determine whether can utilized independently or combination predict status. CDKN2A, CDKN2B, were present 37...