In 2021, the World Health Organization classified isocitrate dehydrogenase () mutant gliomas as a distinct subgroup of tumors with genetic changes sufficient to enable a complete diagnosis. Patients with an mutant glioma have improved survival which has been further enhanced by the advent of targeted therapies. enzymes contribute to cellular metabolism, and mutations to specific catalytic residues result in the neomorphic production of D-2-hydroxyglutarate (D-2-HG).
View Article and Find Full Text PDFWhile the detection of single-nucleotide variants (SNVs) is important for evaluating human health and disease, most genotyping methods require a nucleic acid extraction step and lengthy analytical times. Here, we present a protocol which utilizes the integration of locked nucleic acids (LNAs) into self-annealing loop primers for the allelic discrimination of five isocitrate dehydrogenase 1 R132 (-R132) variants using loop-mediated isothermal amplification (LAMP). This genotyping panel was initially evaluated using purified synthetic DNA to show proof of specific SNV discrimination.
View Article and Find Full Text PDFThe R132H isocitrate dehydrogenase one (IDH1) mutation is a prognostic biomarker present in a subset of gliomas and is associated with heightened survival when paired with aggressive surgical resection. In this study, we establish proof-of-principle for rapid colorimetric detection of the IDH1-R132H mutation in tumor samples in under 1 hour without the need for a nucleic acid extraction. Colorimetric peptide nucleic acid loop-mediated isothermal amplification (CPNA-LAMP) utilizes 4 conventional LAMP primers, a blocking PNA probe complementary to the wild-type sequence, and a self-annealing loop primer complementary to the single nucleotide variant to only amplify the DNA sequence containing the mutation.
View Article and Find Full Text PDFExtent of resection of glioblastoma (GBM) correlates with overall survival. Fluorescence-guided resection (FGR) using 5-aminolevulinic acid (5-ALA) can improve the extent of resection. Unfortunately not all patients given 5-ALA accumulate sufficient quantities of protoporphyrin IX (PpIX) for successful FGR.
View Article and Find Full Text PDFIntroduction. 5-Aminolevulinic Acid (5-ALA) is a precursor of heme synthesis. A metabolite, protoporphyrin IX (PpIX), selectively accumulates in neoplastic tissue including glioblastoma.
View Article and Find Full Text PDFThe hormone leptin has a variety of functions. Originally known for its role in satiety and weight loss, leptin more recently has been shown to augment tumor growth in a variety of cancers. Within gliomas, there is a correlation between tumor grade and tumor expression of leptin and its receptor.
View Article and Find Full Text PDFJ Immigr Minor Health
December 2010
To assess the prevalence of HCV risk factors among Hispanic-American subpopulations in Philadelphia. Patients from four primary care practices in Philadelphia were enrolled. Demographics and HCV risk factors were ascertained using a self-administered questionnaire.
View Article and Find Full Text PDFAim: To determine rates of hepatitis C (HCV) risk factor ascertainment, testing, and referral in urban primary care practices, with particular attention to the effect of race and ethnicity.
Methods: Retrospective chart review from four primary care sites in Philadelphia; two academic primary care practices and two community clinics was performed. Demographics, HCV risk factors, and other risk exposure information were collected.
Purpose: To explore factors sexual minority youth believe make them feel safe in a health care setting.
Methods: Participants in three urban programs serving lesbian/gay/bisexual/transgendered and questioning (LGBTQ) youth engaged in a four-stage process to generate, prioritize, and explain their own ideas. In Stage III, 94 youth, aged 14 to 23 years, completed a survey comprised of the 34 highest rated items generated in earlier stages.