J Neurosurg Case Lessons
October 2024
Background: Neurocysticercosis is a parasitic infection of the central nervous system caused by the helminth Taenia solium. Racemose neurocysticercosis is a rare form of the disease that specifically involves cerebrospinal fluid-filled spaces in the brain and carries a high rate of complications and mortality.
Observations: This report describes the case of a 37-year-old man who developed headaches and nausea, which were found to be secondary to racemose neurocysticercosis.
In the most recent fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, astroblastoma has been defined by molecular rearrangements involving the MN1 gene, with common partners being BEND2 or CXXC5 . Accordingly, this tumor entity is now known as "astroblastoma, MN1 -altered." However, gliomas with EWSR1::BEND2 fusions, devoid of MN1 fusion alterations, have recently been shown to exhibit astroblastoma-like histomorphologic features and reside in a distinct epigenetic subgroup based on DNA methylation studies similar to high-grade neuroepithelial tumor with MN1 alteration, which includes astroblastoma, MN1 altered tumors.
View Article and Find Full Text PDFMayo Clin Proc Innov Qual Outcomes
February 2024
Lifestyle Medicine (LM) is a rapidly growing discipline that focuses on the role of lifestyle factors in preventing, managing, and reversing chronic disease. At this point in the field's evolution, there is strong evidence that the 6 pillars of LM-a whole-food, plant-predominant eating pattern, physical activity, restorative sleep, stress management, avoidance of risky substances, and positive social connections-are central in the creation and maintenance of health. Previous publications, many of them randomized controlled studies and meta-analyses, have solidified the evidence base for the use of the 6 pillars within the field of LM.
View Article and Find Full Text PDFBackground: Methotrexate is an immunosuppressant commonly used to treat inflammatory conditions, such as rheumatoid arthritis. However, albeit exceedingly rare, it can have serious adverse effects within the central nervous system (CNS), such as methotrexate-associated lymphoproliferative disorder (MTX-LPD). Literature describing the natural history, treatment options, and clinical outcomes of patients with CNS MTX-LPD remains sparse.
View Article and Find Full Text PDFDiffuse hemispheric glioma, H3 G34-mutant, is a recently recognized distinct high-grade glioma with a dismal prognosis. In addition to the H3 G34 missense mutation, numerous genetic events have been identified in these malignant tumors, including , , and, rarely, genes. There are only a few reports to date that have identified mutations in diffuse hemispheric glioma, H3 G34-mutant.
View Article and Find Full Text PDFLifestyle medicine (LM) offers future generations of clinicians practical tools to effectively prevent, manage and reverse chronic disease. Due to a variety of factors, introduction of such curricula in medical training has been slow. Until LM becomes more standard in medical schools, electives and tracks are an innovative way to introduce curricula in a time-efficient manner so students can have access to this valuable information during their formative training years.
View Article and Find Full Text PDFAm J Physiol Regul Integr Comp Physiol
February 2023
Bsardet Biedl syndrome (BBS) is a genetic condition associated with various clinical features including cutaneous disorders and certain autoimmune and inflammatory diseases pointing to a potential role of BBS proteins in the regulation of immune function. BBS1 protein, which is a key component of the BBSome, a protein complex involved in the regulation of cilia function and other cellular processes, has been implicated in the immune synapse assembly by promoting the centrosome polarization to the antigen-presenting cells. Here, we assessed the effect of disrupting the BBSome, through gene deletion, in T cells.
View Article and Find Full Text PDFKikuchi-Fujimoto disease (KFD) is a rare and benign disease process that is characterized by fever and lymphadenopathy that was first described in young Japanese women in the early 1970s. Knowledge of KFD is important as it can often mimic other causes of lymphadenopathy including systemic lupus erythematosus (SLE) or malignancies, and this can lead to invasive diagnostic testing and even treatments that can be avoided. The etiology and exact mechanism by which KFD develops is not fully understood at this time, but is thought to be an immune response of T cells and histiocytes to viral or bacterial infections.
View Article and Find Full Text PDFCortical ependymomas are currently not considered a subgroup of supratentorial ependymomas; however, there is a growing body of literature investigating the natural history of these lesions compared to supratentorial ependymomas. We performed a systematic literature review of cortical ependymomas with a focus on the natural history, clinical characteristics, and clinical outcomes of these lesions as compared to supratentorial ependymomas. Our search revealed 153 unique cases of cortical ependymomas.
View Article and Find Full Text PDFAntibodies to SARS-CoV-2 are central to recovery and immunity from COVID-19. However, the relationship between disease severity and the repertoire of antibodies against specific SARS-CoV-2 epitopes an individual develops following exposure remains incompletely understood. Here, we studied seroprevalence of antibodies to specific SARS-CoV-2 and other betacoronavirus antigens in a well-annotated, community sample of convalescent and never-infected individuals obtained in August 2020.
View Article and Find Full Text PDFBackground: Neurenteric cysts (NC) are uncommon congenital lesions with histopathologic properties derived from the gastrointestinal or respiratory tract. They are typically located in the intradural extramedullary compartment but rarely seen in the supratentorial region. The occurrence of supratentorial NCs (S-NC) presents an interesting quandary regarding their embryopathogenesis.
View Article and Find Full Text PDFThe Kv11.1 voltage-gated potassium channel, encoded by the KCNH2 gene, conducts the rapidly activating delayed rectifier current in the heart. KCNH2 pre-mRNA undergoes alternative polyadenylation to generate two C-terminal Kv11.
View Article and Find Full Text PDFFollicular dendritic cell sarcoma (FDCS) is a rare and underdiagnosed malignant neoplasm which characteristically presents as a solitary, slow-growing mass with no discrete symptoms. Histologically, lymphocytes and spindle cells featuring large nucleoli in a whorled pattern are usually seen. FDCS is classically found in cervical and axillary lymph nodes, with occasional involvement of extranodal sites.
View Article and Find Full Text PDFThe () gene encodes the Kv11.1 potassium channel, which conducts the rapidly activating delayed rectifier current in the heart. pre-mRNA undergoes alternative polyadenylation and forms a functional, full-length Kv11.
View Article and Find Full Text PDFThe KCNH2 or human ether-a go-go-related gene (hERG) encodes the Kv11.1 potassium channel that conducts the rapidly activating delayed rectifier potassium current in the heart. The expression of Kv11.
View Article and Find Full Text PDFElucidation of the mutational landscape of human cancer has progressed rapidly and been accompanied by the development of therapeutics targeting mutant oncogenes. However, a comprehensive mapping of cancer dependencies has lagged behind and the discovery of therapeutic targets for counteracting tumor suppressor gene loss is needed. To identify vulnerabilities relevant to specific cancer subtypes, we conducted a large-scale RNAi screen in which viability effects of mRNA knockdown were assessed for 7,837 genes using an average of 20 shRNAs per gene in 398 cancer cell lines.
View Article and Find Full Text PDFSelective expression of dominant negative (DN) peroxisome proliferator-activated receptor γ (PPARγ) in vascular smooth muscle cells (SMC) results in hypertension, atherosclerosis, and increased nuclear factor-κB (NF-κB) target gene expression. Mesenteric SMC were cultured from mice designed to conditionally express wild-type (WT) or DN-PPARγ in response to Cre recombinase to determine how SMC PPARγ regulates expression of NF-κB target inflammatory genes. SMC-specific overexpression of WT-PPARγ or agonist-induced activation of endogenous PPARγ blunted tumor necrosis factor α (TNF-α)-induced NF-κB target gene expression and activity of an NF-κB-responsive promoter.
View Article and Find Full Text PDFPeroxisome proliferator activated receptor (PPARγ) is a nuclear receptor transcription factor that regulates adipogenesis and energy homeostasis. Recent studies suggest PPARγ may mediate some of its metabolic effects through actions in the brain. We used a Cre-recombinase-dependent (using Nestin) conditionally activatable transgene expressing either wild-type (WT) or dominant-negative (P467L) PPARγ to examine mechanisms by which PPARγ in the nervous system controls energy balance.
View Article and Find Full Text PDFPeroxisome proliferator-activated receptor-γ (PPARγ), a master regulator of adipogenesis, was recently shown to affect energy homeostasis through its actions in the brain. Deletion of PPARγ in mouse brain, and specifically in the pro-opiomelanocortin (POMC) neurons, results in resistance to diet-induced obesity. To study the mechanisms by which PPARγ in POMC neurons controls energy balance, we constructed a Cre-recombinase-dependent conditionally activatable transgene expressing either wild-type (WT) or dominant-negative (P467L) PPARγ and the tdTomato reporter.
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