In the past several years, interest in the clinical utility of cell-free DNA as a noninvasive cancer biomarker has grown rapidly. Success in the development of plasma genotyping assays and other liquid biopsy assays has widened the scope of cell-free DNA use in research and the clinic. Already approved by the US Food and Drug Administration in the narrow context of epidermal growth factor receptor-mutated non-small cell lung cancer, plasma genotyping assays are currently being investigated in a wide array of clinical settings and modalities. These include plasma genotyping as a tool for early diagnosis, the detection of minimal residual disease, and the evaluation of treatment response/progression. In this review, we assess the clinical landscape of plasma genotyping assays and propose strategies for their further expansion into routine clinical care.
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http://dx.doi.org/10.3343/alm.2018.38.1.1 | DOI Listing |
Arch Pharm Res
December 2024
School of Pharmacy, Sungkyunkwan University, Suwon, 16419, Republic of Korea.
This study aimed to investigate the effects of fluconazole, a moderate inhibitor of CYP2C9 and CYP3A4, on the pharmacokinetics of celecoxib and its carboxylic acid metabolite in different CYP2C9 genotypes. A total of thirty-nine healthy Korean male volunteers were divided into three different CYP2C9 genotype groups (CYP2C9*1/*1, *1/*3 and *3/*3 genotypes) and were enrolled in the celecoxib alone trial, celecoxib with fluconazole trial, or both. In the celecoxib alone trial, participants received a single oral dose of 200 mg celecoxib.
View Article and Find Full Text PDFMetabolites
December 2024
Department of Translational and Precision Medicine, Sapienza University of Rome, 00185 Rome, Italy.
Background/objectives: Low fasting blood lysosomal acid lipase (LAL) activity is associated with the pathogenesis of metabolic hepatic steatosis. We measured LAL activity in blood and plasma before and after an oral fat tolerance test (OFTT) in patients with metabolic-dysfunction-associated steatotic liver disease (MASLD).
Methods: Twenty-six controls and seventeen patients with MASLD but without diabetes were genotyped for the patatin-like phospholipase 3 (PNPLA3) rs738409 variant by RT-PCR and subjected to an OFTT, measuring LAL activity in blood and plasma with a fluorimetric method.
Front Endocrinol (Lausanne)
December 2024
Diabetes Center, Ohta Nishinouchi Hospital, Koriyama, Fukushima, Japan.
Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder, accompanied by multiple endocrine neoplasms of the parathyroid, pancreas, pituitary, and other neoplasms in the adrenal glands. However, in some cases, patients clinically diagnosed with MEN1 may be genotype-negative.
Case Presentation: A 56-year-old female was diagnosed with MEN1 based on a macroprolactinoma (19 mm in diameter), primary hyperparathyroidism, and a cortisol-producing adrenal adenoma, without a family history.
Front Immunol
December 2024
Department of Thoracic Surgery, Affiliated Hospital of Southwest Medical University, Luzhou, China.
Background: Lichen planus (LP), an autoimmune disorder, remains incompletely understood in terms of its etiological mechanisms. This study aims to elucidate causal relationships among immune cell populations, plasma metabolites, and lichen planus using Mendelian randomization (MR) techniques.
Methods: Employing a two-sample, two-step MR approach, with single nucleotide polymorphisms (SNP) serving as genetic instruments for both exposures and mediators, this study minimizes biases from confounding and reverse causality.
Mol Clin Oncol
February 2025
Department of Medical Oncology, Kindai University Faculty of Medicine, Osaka 589-8511, Japan.
We have been exploring biomarkers that could help physicians select the appropriate opioid for individualized treatment of cancer pain. Recently, we identified a single nucleotide polymorphism (SNP) of (rs17809012) as one such biomarker that was significantly associated with the analgesic effect of morphine. The current study measured the plasma concentrations of chemokines/cytokines in pre-treatment plasma samples of a total of 138 patients who were randomized to receive morphine (n=70) or oxycodone (n=68).
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