Articles: disease.
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Colorectal cancer (CRC) is the fourth most common cancer in South Africa (SA), and the sixth most lethal. Approximately 25% of patients will have synchronous metastatic disease at the time of their primary CRC diagnosis. Although chemotherapy is used in most stages of the disease, surgical resection of the primary tumour and metastases remains the most successful treatment modality to achieve cure or prolong survival. To date, no data on CRC presentation and management have been published in SA. ⋯ SA CRC patients treated in the private healthcare sector have similar disease presentation to that in published international series, with similar outcomes following various treatment pathways; however, it seems that fewer resections of metastases are undertaken compared with international trends.
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Pol. Arch. Med. Wewn. · Jan 2018
The relationship between hematological parameters and the severity level of chronic obstructive lung disease.
INTRODUCTION Chronic obstructive pulmonary disease (COPD) is the most important lung disease leading to disability and even death. Recent studies have shown that the platelet indices are associated with several cardiovascular diseases; however, there is little data on COPD. OBJECTIVES We aimed to explore the relationship between platelet indices, together with the platelet-to-lymphocyte ratio (PLR), white blood cell count to mean platelet volume ratio (WMR), and red cell distribution width (RDW) and the severity of COPD. ⋯ In the multiple logistic regression analysis, we found that PDW and RDW were independently associated with the presence of severe COPD. ROC curve analysis showed that a PDW>14.85 was associated with severe COPD with 85% sensitivity and 86% specificity while RDW>14.45 was associated with severe COPD with 90% sensitivity and 87% specificity. CONCLUSIONS The PDW and the RDW are independently associated with disease severity, which may indicate hypoxemia, underlying inflammation, and oxidative stress in COPD.
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Nucleic acids research · Jan 2018
ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins.
Interpretation of genetic variation is needed for deciphering genotype-phenotype associations, mechanisms of inherited disease, and cancer driver mutations. Millions of single nucleotide variants (SNVs) in human genomes are known and thousands are associated with disease. An estimated 21% of disease-associated amino acid substitutions corresponding to missense SNVs are located in protein sites of post-translational modifications (PTMs), chemical modifications of amino acids that extend protein function. ⋯ Integrative analysis of mutations and PTMs may help decipher molecular mechanisms of phenotypes and disease, as exemplified by case studies of TP53, BRCA2 and VHL. The open-source database is available at https://www. ActiveDriverDB.org.
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On a tide of big data, machine learning is coming to its day. Referring to huge amounts of epigenetic data coming from biological experiments and clinic, machine learning can help in detecting epigenetic features in genome, finding correlations between phenotypes and modifications in histone or genes, accelerating the screen of lead compounds targeting epigenetics diseases and many other aspects around the study on epigenetics, which consequently realizes the hope of precision medicine. ⋯ In order to make full use of machine learning algorithms, one should get familiar with the pros and cons of them, which will benefit from big data by choosing the most suitable method(s).