Importance: Molecular techniques, including next-generation sequencing, genomic copy number profiling, fusion transcript detection, and genomic DNA methylation arrays, are now indispensable tools for the workup of central nervous system (CNS) tumors. Yet there remains a great deal of heterogeneity in using such biomarker testing across institutions and hospital systems. This is in large part because there is a persistent reluctance among third-party payers to cover molecular testing.
View Article and Find Full Text PDFIsocitrate dehydrogenase (IDH)-mutant gliomas are the most common malignant primary brain tumors in young adults. This condition imposes a substantial burden on patients and their caregivers, marked by neurocognitive deficits and high mortality rates due to tumor progression, coupled with significant morbidity from current treatment modalities. Although surgery, radiation therapy, and chemotherapy improve survival, these treatments can adversely affect cognitive function, quality of life, finances, employment status, and overall independence.
View Article and Find Full Text PDFHuntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion that encodes a polyglutamine tract in the huntingtin (HTT) protein. The mutant CAG repeat is unstable and expands in specific brain cells and peripheral tissues throughout life. Genes involved in the DNA mismatch repair pathways, known to act on expansion, have been identified as genetic modifiers; therefore, it is the rate of somatic CAG repeat expansion that drives the age of onset and rate of disease progression.
View Article and Find Full Text PDFThe phenomenological differences in auditory hallucinations between schizophrenia and borderline personality disorder (BPD) are unclear in the existing literature, in part due to underpowered studies and heterogeneous research populations that do not represent those in the acute clinical setting. This study addresses this by using patient records to compare auditory hallucinations at the point of clinical psychiatric assessment for 341 unique patients, 165 with BPD and 176 with schizophrenia. Patients with BPD were found to have more subjectively distressing and objectively negative hallucinations, as well as more command hallucinations.
View Article and Find Full Text PDFBackground: Vaping is touted as a safer alternative to traditional cigarette smoking, but the full spectrum of harm reduction versus comparable risk remains unresolved. Elevated bioavailability of nicotine in vape aerosol together with known risks of nicotine exposure may result in previously uncharacterized cardiovascular consequences of vaping. The objective of this study is to assess the impact of nicotine exposure via vape aerosol inhalation upon myocardial response to infarction injury.
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