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Profiling in public health
Published in Sridhar Venkatapuram, Alex Broadbent, The Routledge Handbook of Philosophy of Public Health, 2023
However, the ethical picture of profiling in medicine versus by police is more complex than this beneficence objection might suggest. First, while profiling patients in public health and medicine is generally done with a beneficent purpose and may customarily result in the profiled patients being only benefited (no harms) in consequence of their being profiled, this is not always the case.
Molecular Biology and Gene Therapy
Published in R James A England, Eamon Shamil, Rajeev Mathew, Manohar Bance, Pavol Surda, Jemy Jose, Omar Hilmi, Adam J Donne, Scott-Brown's Essential Otorhinolaryngology, 2022
Proteomics is the profiling of proteins in cells and serum by two-dimensional gel analysis separating proteins by charge and mass, by X-ray crystallography and by mass spectrometry. Proteomics has the ability to identify post-translational modifications, some of which are cancer cell specific, which would not be detected by genetic or expression profiling. The power of this approach is particularly evident in cancer studies as it has the ability to compare the entire protein pattern of tumour tissue and normal tissue in a manner analogous to comparative genomic hybridisation.
Adenylosuccinate lyase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The diagnosis has been made via untargeted metabolomic profiling, and confirmed by targeted quantitative biochemical analysis. Screening for the disease has been performed via tandem mass spectrometry for succinylpurines in dried spots of blood [24].
Site-specific protein biomarkers in gastric cancer: a comprehensive review of novel biomarkers and clinical applications
Published in Expert Review of Molecular Diagnostics, 2023
Takahiro Shinozuka, Mitsuro Kanda, Yasuhiro Kodera
Over the next five or 10 years, the field of GC biomarker research is expected to undergo a significant transformation. Finally, we address the potential ways in which spatial molecular profiling, advanced imaging, artificial intelligence (AI), and early diagnosis using the molecular markers discussed can be integrated into a personalized treatment plan for GC. Spatial molecular profiling could unravel the complexity of tumor microenvironment through high-resolution mapping of protein expressions, facilitating the precision of therapy selection. Advanced imaging of endoscopy, computed tomography, and magnetic resonance imaging, in conjunction with protein biomarkers, could augment early detection and monitoring, especially in evaluating responses to targeted treatments. AI can streamline the analysis of vast datasets from molecular profiling and imaging, enabling the development of predictive models through machine learning for diagnosis and personalized treatment strategies. Early diagnosis, achieved by integrating molecular markers with imaging data, is crucial for better GC outcomes. A comprehensive approach combining spatial molecular profiling, AI, and advanced imaging, allows for customized treatment plans aligned with a patient’s tumor molecular traits.
Impact of TP53 gene variants on prognosis and survival of childhood acute lymphoblastic leukemia
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2023
Sinem Firtina, Yucel Erbilgin, Ozden Hatirnaz Ng, Serap Karaman, Zeynep Karakas, Tulin Tiraje Celkan, Sema Aylan Gelen, Yildiz Yildirmak, Ugur Ozbek, Muge Sayitoglu
Genomic profiling of ALL patients is important for diagnosis, subgroup identification, risk assessment and/or targeted treatment options [23]. TP53 gene is one of the most known tumor suppressor genes which was shown to be inactivated in 2–16% of pediatric ALL [24–27]. In this study, we identified nine different TP53 variants with low/high levels in 17 (18%) pediatric ALL patients. Diagnostic samples of pediatric T-ALL patients showed significantly higher mutation frequency (37%) than B-ALL patients (9%). TP53 plays an important role in all hematological malignancies [28], and further studies showed that TP53 gene variants may also have an impact on disease progression and treatment resistance, and can be used as a biomarker to identify high-risk T-ALL [29].
Personalizing treatments for patients based on cardiovascular phenotyping
Published in Expert Review of Precision Medicine and Drug Development, 2022
The current state-of-the-art in advanced phenotyping for cardiovascular disease remains firmly in the discovery phase as many studies have reported findings but have not provided a pathway to move toward the clinic. Two recent studies illustrate that the reception for precision cardiovascular phenotyping in current clinical practice is somewhat lukewarm. A pilot study of 110 patients was done to examine the impact of pharmacogenetic profiling and clinical decision-making support to decrease adverse drug reactions. Genomic analysis of CYP 450 genes to guide medication use was associated with a decrease in emergency department visits and hospitalizations. However, only 77% of the pharmacogenetic profiling and decision support recommendations were followed by clinicians [93]. The idea of using rapid genetic profiling to facilitate in-hospital treatment has also been studied. Rapid whole genome sequencing to guide drug selection for cardiovascular care was assessed in a small pilot study that included 50 patients with acute cardiovascular events or cardiac arrest. While rapid whole genome sequencing found that ~64% of the participants had one pharmacogenetic variant that would inform pharmacologic management of cardiovascular disease, only 14% were considered actionable [94]. Thus, in one case, results were not always followed by the managing physician and in the other the results were likely not superior to standard clinical practice.