Looking for an effective and non-invasive diagnostic test for endometriosis: where are we?

Signorile, Pietro G.; Baldi, Alfonso

doi:10.21037/atm.2018.11.46

Cited by 3 publications

(2 citation statements)

References 24 publications

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“…This trend can be linked to ovarian estrogenic hormonal activity and may explain the delay in diagnosis of this disease in young women. Alternatively, it is possible to hypothesize that the disease being in an initial clinical form in young patients, determines fewer symptoms compared to the disease in an advanced stage (34).…”

Section: Discussionmentioning

confidence: 99%

Endometriosis: A Retrospective Analysis of Clinical Data from a Cohort of 4,083 Patients, With Focus on Symptoms

Signorile¹,

Cassano²,

Viceconte³

et al. 2022

In Vivo

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Background: Endometriosis is an estrogendependent and chronic inflammatory gynecological disease due to the presence of ectopic endometrial tissue outside the uterine cavity. This disease affects approximately 10% of the female population. In spite of its relatively high prevalence, information about its pathogenesis, diagnosis, and therapy is not complete. Patients and Methods: We present a retrospective study performed on 4,083 patients with endometriosis, with a focus on symptoms. The archived data were analyzed investigating the distribution of symptoms among patients, the correlation of symptoms with the occupation of the patients, and finally the correlation with the other anamnestic data. Statistical associations between the data for all cases were then considered separately. Results: Chronic fatigue syndrome and dyspareunia were confirmed as being among the main symptoms of endometriosis, together with bowel disorders. On the other hand, we registered a low occurrence of urinary disorders and even of chronic pelvic pain, which is usually considered among the main symptoms of endometriosis. We found an increase in incidence of symptoms starting from the age group 25-29 years up to 40-44 years and, subsequently, a significant decrease in the group aged 55-59 years. For all the symptoms analyzed, we found a higher incidence in employers, graduates and freelancers. Finally, we found a protective effect of the number of gestations on chronic fatigue syndrome. Conclusion: This in-depth study on such a vast cohort of affected patients clarifies some important aspects on the complex symptomatology of this still enigmatic disease. In particular, the study highlights the symptoms most closely related to endometriosis which will help speed up the diagnostic process of patients suffering from this pathology.

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Section: Discussionmentioning

confidence: 99%

Endometriosis: A Retrospective Analysis of Clinical Data from a Cohort of 4,083 Patients, With Focus on Symptoms

Signorile¹,

Cassano²,

Viceconte³

et al. 2022

In Vivo

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“…Based on serum proteomic differential expression, a possible biomarker panel comprising zinc-alpha-2-glycoprotein, albumin, and complement C3 has been proposed for effective and non-invasive diagnosis of endometriosis [54]. Importantly, the three markers were independent from the endometriosis stage and cycle phase.…”

Section: Rel: Rel (V-relmentioning

confidence: 99%

Uncovering Potential Roles of Differentially Expressed Genes, Upstream Regulators, and Canonical Pathways in Endometriosis Using an In Silico Genomics Approach

Mirza

Abdel-dayem

2020

Diagnostics

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Endometriosis is characterized by ectopic endometrial tissue implantation, mostly within the peritoneum, and affects women in their reproductive age. Studies have been done to clarify its etiology, but the precise molecular mechanisms and pathophysiology remain unclear. We downloaded genome-wide mRNA expression and clinicopathological data of endometriosis patients and controls from NCBI’s Gene Expression Omnibus, after a systematic search of multiple independent studies comprising 156 endometriosis patients and 118 controls to identify causative genes, risk factors, and potential diagnostic/therapeutic biomarkers. Comprehensive gene expression meta-analysis, pathway analysis, and gene ontology analysis was done using a bioinformatics-based approach. We identified 1590 unique differentially expressed genes (129 upregulated and 1461 downregulated) mapped by IPA as biologically relevant. The top upregulated genes were FOS, EGR1, ZFP36, JUNB, APOD, CST1, GPX3, and PER1, and the top downregulated ones were DIO2, CPM, OLFM4, PALLD, BAG5, TOP2A, PKP4, CDC20B, and SNTN. The most perturbed canonical pathways were mitotic roles of Polo-like kinase, role of Checkpoint kinase proteins in cell cycle checkpoint control, and ATM signaling. Protein–protein interaction analysis showed a strong network association among FOS, EGR1, ZFP36, and JUNB. These findings provide a thorough understanding of the molecular mechanism of endometriosis, identified biomarkers, and represent a step towards the future development of novel diagnostic and therapeutic options.

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Prototype Salivary Assay for Quantification of Two Biomarkers for In Vitro Diagnosis of Endometriosis

Signorile,

Dominici,

Viceconte

et al. 2024

Crit Rev Eukaryot Gene Expr

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Endometriosis, a very common disease in women, is characterized by endometrial structures outside the uterine cavity. The lack of a reliable noninvasive diagnostic test and the often nonspecific symptoms of this pathology are responsible for the delay in definitive diagnosis of this disease. Recently, through a proteomics approach, our research group has identified two potential diagnostic markers for endometriosis in serum (Zn-alpha2-glycoprotein and complement C3 precursor). In this article, we describe the experimental conditions of a simple ELISA for rapid quantification of these two biomarkers in the saliva of patients with endometriosis. Finally, preliminary experiments on a small cohort of patients and controls have confirmed the potential diagnostic value of this assay.

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Looking for an effective and non-invasive diagnostic test for endometriosis: where are we?

Cited by 3 publications

References 24 publications

Endometriosis: A Retrospective Analysis of Clinical Data from a Cohort of 4,083 Patients, With Focus on Symptoms

Endometriosis: A Retrospective Analysis of Clinical Data from a Cohort of 4,083 Patients, With Focus on Symptoms

Uncovering Potential Roles of Differentially Expressed Genes, Upstream Regulators, and Canonical Pathways in Endometriosis Using an In Silico Genomics Approach

Prototype Salivary Assay for Quantification of Two Biomarkers for In Vitro Diagnosis of Endometriosis

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