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Molecular diagnosis of endometriosis
Published in Carlos Simón, Linda C. Giudice, The Endometrial Factor, 2017
Lusine Aghajanova, Linda C. Giudice
Gene expression and biological functions are linked via complex protein synthesis and gene interaction pathways. Thus, proteomic techniques have been applied to screen and identify endometriosis-specific proteins in biological fluids (serum, urine, peritoneal fluid, and menstrual blood) and eutopic and ectopic endometrium in search for potential biomarkers of the disease, with the majority of studies focusing on serum and eutopic endometrium (reviewed in (119)). Initial studies showed differential expression of proteins involved in cytoskeleton formation, regulation of cell cycle, signal transduction, or immunological function in serum and eutopic endometrium from women with versus without endometriosis, with some correlation between the two (120). Differential expression of protein peaks in secretory phase endometrium from women with endometriosis versus controls has been reported (121–123), with 91.7% sensitivity and 90% specificity in the diagnosis of endometriosis (124). Interestingly, analysis of the differentially expressed proteins in the two-dimensional gel electrophoresis studies with eutopic endometrium revealed few proteins reliably seen in at least three of the studies so far, and include vimentin, peroxiredoxins, HSP70, HSP90, annexins, actins, and 14-3-3 family proteins, suggesting these as potential candidates in the pathology of endometriosis (120,123,125,126). Proteomic analysis of plasma samples obtained during the menstrual phase enabled the diagnosis of endometriosis undetectable by ultrasonography with high sensitivity and specificity (75% and 86% for minimal–mild and 98% and 81% for moderate–severe endometriosis, respectively) (127). Fassbender et al. performed paired assessment of the endometrial transcriptome and proteome and described a panel of differentially expressed peptide peaks in the ESE proteome of women with endometriosis versus controls without endometriosis but with other pelvic pathologies, as diagnostic of endometriosis of all stages with 91% sensitivity and 80% specificity (128). To date, only one study has validated their serum results of differentially expressed proteins in subjects with endometriosis in a separate cohort of patients, revealing haptoglobin (HP), immunoglobulin kappa chain C (IGKC) region, and alpha-1B-glycoprotein (A1BG) as candidate serum markers for the diagnosis of Stage II, III, and IV endometriosis, and IGKC and HP for the diagnosis of Stage I disease (129). Proteomics assessment of serum or endometrial tissue holds great promise in the development of noninvasive diagnostic tools for endometriosis.
Advanced multimodal diagnostic approaches for detection of lung cancer
Published in Expert Review of Molecular Diagnostics, 2019
Pravin Shende, Steffi Augustine, Bala Prabhakar, R. S. Gaud
Urine analysis is another adjunct diagnostic technique that can help to detect changes in protein and metabolite levels in LC. It is a completely noninvasive and patient-friendly technique. The biomarkers are detected using specialized instruments like MALDI-TOF-MS or commercially available assays. A recent study involved the detection of biomarkers associated with adenocarcinoma of lung by examining changes in urine protein levels. The urine samples from 70 volunteers with LC were analyzed and compared with healthy volunteers’ urine samples using MALDI-TOF-MS with immunohistological staining. The results indicated that the IGKC, gelsolin, SH3BGRL3, osteopontin, and AAT levels were found to be higher in LC patients than in healthy volunteers. The sensitivity and specificity of this procedure was found to be 60–70% and 80–90%, respectively [31]. Furthermore, a recent study found that midkine, a heparin-building growth factor, emerges as a novel serum and urine biomarker for the detection of NSCLC. The study indicates that midkine levels are significantly upregulated in patients with LC and the sensitivity and specificity of this test were found to be 71% and 88%, respectively [32]. Another important study reported that urinary biomarkers can be employed for early detection of NSCLC using biomarker panel of IGFBP-1, sIL-1Ra, and CEACAM-1 with higher specificity (>70%). Hence, urine analysis emerges as a novel, noninvasive, and patient-friendly technique for detection of LC [33].
Innate Immunity Biomarkers for Early Detection of Keratoconus
Published in Ocular Immunology and Inflammation, 2019
Mercedes Malfeito, Uxía Regueiro, María Pérez-Mato, Francisco Campos, Tomás Sobrino, Isabel Lema
Furthermore, as we have reported elsewhere,4,6 inflammatory markers (IL-6, TNF-α, and MMP-9) are increased in the tears of KC patients. We also noted decreased levels of Lf, IGKC and ZAG in the tears of patients with KC.7 These results suggest an involvement of inflammatory and immunological processes in the pathogenesis of KC, even more so when these biomarkers were associated with the severity of the KC. There is evidence that the corneal microenvironment in KC is affected by inflammatory changes.21 On the other hand, this inflammatory response, mainly mediated by proinflammatory cytokines,17 could be activated by TLRs through endogenous ligands that promote the recruitment of a number of adaptive proteins to activate nuclear factor-kB, which finally induces the expression of proinflammatory genes.10,11 Consequently, it is tempting to postulate that inflammatory response in KC could be a consequence of TLR activation. In this regard, the results of the current study revealed that TLR2 and TLR4 expression in both corneal and conjunctival epithelial cells was significantly higher in KC eyes than in subclinical and control eyes; likewise, TLR2 and TLR4 expression was also higher in the subclinical group than in the control group. Additionally, several cell types, including keratocytes, express IL-6 in response to stimulation by IL-1β or TNF-α, and TLRs increase secretion of IL-6 and TNF-α in corneal fibroblasts.22 Importantly, TLR2 in corneal epithelial cells was the biomarker more expressed in KC compared to the subclinical and control groups. This differential fact is important because previous studies have demonstrated that the treatment of corneal epithelial cells with neutralizing TLR2-antibodies induced a significant decrease in IL-6, IL-8, and TNF-α levels.11
Beta-2-glycoprotein-1 and alpha-1-antitrypsin as urinary markers of renal cancer in von Hippel–Lindau patients
Published in Biomarkers, 2018
Giorgia Mandili, Agata Notarpietro, Amina Khadjavi, Marco Allasia, Antonino Battaglia, Barbara Lucatello, Bruno Frea, Francesco Turrini, Francesco Novelli, Giuliana Giribaldi, Paolo Destefanis
The comparison among VHLD patients, ccRCC patients and healthy subjects revealed changes in proteins involved in immune system (IGHG1, IGKC, AMBP), cell motility and proliferation (CATD), cell permeability (KNG1 and KCA10), lipid metabolism (LIPR3), signal transduction (SDCB1), chromatin remodelling (INO80) and ion transport (ALBU, TRFE).