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1.
Sci Rep ; 14(1): 12316, 2024 05 29.
Artículo en Inglés | MEDLINE | ID: mdl-38811597

RESUMEN

Addressing the significant level of variability exhibited by pancreatic cancer necessitates the adoption of a systems biology approach that integrates molecular data, biological properties of the tumors, medical images, and clinical features of the patients. In this study, a comprehensive multi-omics methodology was employed to examine a distinctive collection of patient dataset containing rapid autopsy tumor and normal tissue samples as well as longitudinal imaging with a focus on pancreatic cancer. By performing a whole exome sequencing analysis on tumor and normal tissues to identify somatic gene variants and a radiomic feature analysis to tumor CT images, the genome-wide association approach established a connection between pancreatic cancer driver genes and relevant radiomic features, enabling a thorough and quantitative assessment of the heterogeneity of pancreatic tumors. The significant association between sets of genes and radiomic features revealed the involvement of genes in shaping tumor morphological heterogeneity. Some results of the association established a connection between the molecular level mechanism and their outcomes at the level of tumor structural heterogeneity. Because tumor structure and tumor structural heterogeneity are related to the patients' overall survival, patients who had pancreatic cancer driver gene mutations with an association to a certain radiomic feature have been observed to experience worse survival rates than cases without these somatic mutations. Furthermore, the association analysis has revealed potential gene mutations and radiomic feature candidates that warrant further investigation in future research endeavors.


Asunto(s)
Secuenciación del Exoma , Mutación , Neoplasias Pancreáticas , Humanos , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patología , Neoplasias Pancreáticas/diagnóstico por imagen , Fenotipo , Estudio de Asociación del Genoma Completo , Masculino , Femenino , Tomografía Computarizada por Rayos X/métodos
2.
Cureus ; 15(11): e48961, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38111456

RESUMEN

This narrative review explores the evolving field of thyroid function testing, explicitly highlighting the significance of precision diagnostics and their substantial impact on clinical practice. Commencing with a comprehensive examination of the historical progression of thyroid diagnostics, the discourse proceeds to explore recent developments, highlighting the paramount importance of accuracy in testing methods. The primary issue under consideration is the crucial requirement for accuracy in the field of therapeutic practice. The review critically examines the problems related to the interpretation, standardization, and ethical considerations in examining advanced laboratory techniques, novel biomarkers, and state-of-the-art technologies like immunoassays, molecular testing, and automation. The focus on the paradigm shift towards precision diagnostics brings attention to the complex connection between test results and their direct influence on patient care. This investigation expands upon the incorporation of imaging and molecular diagnostics, highlighting the rising significance of precision in customizing treatment strategies. In summary, the study provides a prospective viewpoint, recognizing the persistent obstacles and highlighting the want for dependable, uniform methodologies in thyroid diagnostics. This narrative's primary objective is to guide physicians, researchers, and stakeholders in effectively navigating the intricate nature of contemporary thyroid function tests, with a particular emphasis on resolving the fundamental issue of precision.

3.
medRxiv ; 2023 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-37961101

RESUMEN

Addressing the significant level of variability exhibited by pancreatic cancer necessitates the adoption of a systems biology approach that integrates molecular data, biological properties of the tumors, and clinical features of the patients. In this study, a comprehensive multi-omics methodology was employed to examine a distinctive collection patient dataset containing rapid autopsy tumor and normal tissue samples as well as longitudinal imaging with a focus on pancreatic cancer. By performing a whole exome sequencing analysis on tumor and normal tissues to identify somatic gene variants and a radiomics feature analysis to tumor CT images, the genome-wide association approach established a connection between pancreatic cancer driver genes and relevant radiomics features, enabling a thorough and quantitative assessment of the heterogeneity of pancreatic tumors. The significant association between sets of genes and radiomics features revealed the involvement of genes in shaping tumor morphological heterogeneity. Some results of the association established a connection between the molecular level mechanism and their outcomes at the level of tumor structural heterogeneity. Because tumor structure and tumor structural heterogeneity are related to the patients' overall survival, patients who had pancreatic cancer driver gene mutations with an association to a certain radiomics feature have been observed to experience worse survival rates than cases without these somatic mutations. Furthermore, the outcome of the association analysis has revealed potential gene mutations and radiomics feature candidates that warrant further investigation in future research endeavors.

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