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How Much Diagnosis Can We Afford?
Published in Pat Croskerry, Karen S. Cosby, Mark L. Graber, Hardeep Singh, Diagnosis, 2017
It is now feasible to obtain a full genomic analysis of an individual. However, much of the information may not be useful, and might even be misleading. A number of common conditions have been found to have a genetic basis, however, their ultimate expression is influenced by many factors and the usefulness of testing is not yet established [36]. Awareness of susceptibility for some hereditary cancer syndromes (such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, and hereditary breast/ovarian cancer linked to BRCA1/2 genes) may help individuals modify their lifestyle, screen more often, and potentially treat certain cancers more aggressively [37]. For other conditions, there is too much complexity to make sound recommendations based on genetics alone (such as type 2 diabetes and coronary artery disease) [36,38].
Pharmaceuticals: Some General Aspects
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2019
Rare diseases include spinal muscular atrophy, lysosomal storage disorders, patent ductus arteriosus (PDA), familial adenomatous polyposis (FAP) and cystic fibrosis that occur at birth or in childhood whereas other rare diseases among them certain types of cancer (renal-cell carcinoma, glioma, or acute myeloid leukemia) appear during adulthood. The EMA works together in this field with international organizations such as the FDA or the Japanese Ministry for Health, Labour and Welfare (EMA, 2017a; Mariz et al., 2016).
Local anesthetics classification: Artificial intelligence information entropy
Published in A. K. Haghi, Lionello Pogliani, Francisco Torrens, Devrim Balköse, Omari V. Mukbaniani, Andrew G. Mercader, Applied Chemistry and Chemical Engineering, 2017
Francisco. torrens, Gloria. castellano
Big data (BD) is a concept that makes reference to the accumulation of great data amounts and procedures to find patterns in them. The features involve a series of obstacles to save: having high-scale data bears noise accumulation and obtaining correlations with low precision predictions. Conventional algorithms for data analysis are insufficient, forcing to use other methods that allow an optimized exploration. It is crucial to dispose of automatic tools that are able to detect and correct data uncertainty sources and homogeneity degree. Salas reported a genetic advice in cancer in Valencia Community.44 A molecular analysis showed that cancer is sporadic 70-80%, family 10-25% and hereditary 5-10%. Hereditary cancer syndromes resulted breast/ovary (60%), hereditary nonpolyposis colorectal cancer (31%), familial adenomatous polyposis, multiple endocrine neoplasia type-2, von Hippel-Lindau syndrome, retinoblastoma, Peutz-Jeghers syndrome, etc. The Foundation for Health and Biomedical Research Promotion of Valencia Region (FISABIO) is a nonprofit organization of scientific and care character, aiming scientific-technical, health and biomedical research promotion, impulse and development in the Valencia region (VR).45 The Spanish Type Culture Collection of Universitat de València, Barcelone Waters Society and Bosch & Gimpera Foundation develop the Project Drinking Water Library, to create the first database for matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF MS), of microorganisms isolated from water for human consumption. The identification of this type of aquatic bacteria results a qualitative improvement for evaluating water microbiological quality. On the other hand, imaging databanks (IDs) appear as strategic research infrastructures. Medical Imaging Databank of the Valencia Community (BIMCV) is devised as a knowledge repository oriented to favor medical imaging (MI) technological advances, providing technological-coverage services in support of research and development projects. It has a geographical ambit, including all VR centers. However, the management system of integrated medical-imaging databanks (MIDs) will be later compatible with the Health National System central node and other international nodes. De la Iglesia and Martínez proposed questions (Qs), hypotheses (Hs), and problems (P) on the BIMCV databank.46
The World Trade Center Health Program: Cancer screening and cancer care best practices
Published in Archives of Environmental & Occupational Health, 2023
Geoffrey M. Calvert, Gerald Lilly, John Cochran
The 2021 USPSTF update recommends that individuals at average risk and aged 45–75 years of age be screened for colorectal cancer (persons at average risk are those with no prior diagnosis of colorectal cancer, adenomatous polyps, or inflammatory bowel disease, and no personal diagnosis or family history of known genetic disorders that predispose them to a high lifetime risk of colorectal cancer [such as Lynch syndrome or familial adenomatous polyposis]). There are several recommended screening strategies including colonoscopy, flexible sigmoidoscopy, high-sensitivity guaiac fecal occult blood testing, and fecal immunochemical testing (Table 1).14 Details can be found at this link: https://www.uspreventiveservicestaskforce.org/uspstf/recommendation/colorectal-cancer-screening. Using data from 2015, it was estimated that 63% of US adult women and 62% of US adult men aged 50 to 75 years were up to date for colorectal cancer screening.15
Helicobacter pylori, stomach cancer and its prevention in New Zealand
Published in Journal of the Royal Society of New Zealand, 2020
Virginia Signal, Jason Gurney, Stephen Inns, Melissa McLeod, Dianne Sika-Paotonu, Sam Sowerbutts, Andrea Teng, Diana Sarfati
Approximately 1%–3% of confirmed stomach cancers arise from known inherited cancer predisposition disorders (Lynch et al. 2005; Hu et al. 2012), including syndromes such as Lynch, Peutz-Jeghers, Cowden and Li-Fraumeni syndromes, familial adenomatous polyposis, and hereditary diffuse gastric cancer (HDGC) (Lynch et al. 2005; Hu et al. 2012; Rawla and Barsouk 2019). The latter of these, HDGC, is the best-described form of hereditary stomach cancer and comprises approximately 1% of all stomach cancers (Blair et al. 2006). It is well known in New Zealand (Abrams and Wang 2010; Blair et al. 2013) due to a large Māori family, who in collaboration with researchers, published seminal work describing a molecular basis for familial stomach cancer (Guilford et al. 1998). For the individuals and families affected, the impact of the genetic mutation associated with HDGC is substantial, and the genetic screening and interventions now available are life-saving (Guilford et al. 2010; Hakkaart et al. 2019) Approximately 6% of advanced cancers among Māori have been identified as having a CDH1 mutation – the mutation predominantly responsible for HDGC (Hakkaart et al. 2019). This is a substantial burden of disease attributable to a known hereditary factor. However, the vast majority of stomach cancers among Māori (and non-Māori) cannot be explained by known hereditary risk factors – with H. pylori and other environmental risk factors likely to be the most important contributors to the New Zealand population burden of stomach cancer (Blair et al. 2013; Teng, Blakely, et al. 2016; Ellison-Loschmann et al. 2017).