Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis

Biomolecules, Год журнала: 2025, Номер 15(1), С. 69 - 69

Опубликована: Янв. 6, 2025

Endometriosis is a chronic, estrogen-dependent disorder associated with the presence of endometrial cells mainly in pelvic cavity, causing systemic immune inflammation, infertility, epigenetic dysregulation differential DNA methylation, coelomic metaplasia, and pain. It affects approximately 10-12% women. Despite decades research, full pathophysiology, diagnostic roadmap, clinical management strategies for endometriosis are not yet fully elucidated. Cell-free (Cf-DNA) peripheral blood diseased healthy individuals was discovered 1950s. Quantifying Cf-DNA specific methylation group genes have been proposed as potential non-invasive biomarkers somatic constitutional genetics various other pathological disorders. In this study, we investigated levels 78 young women, 38 whom had confirmed via laparoscopy 40 were healthy. We found significant difference between two groups when quantified, 3.9 times more serum women endometriosis. also identified nine target potentially involved pathogenesis endometriosis, different profile groups. Our data suggest that combination cell-free quantification assessment signature can be predictive test

Язык: Английский

Prevalence of endometriosis in Mayer–Rokitansky–Küster–Hauser syndrome variants: a systematic review and meta-analysis

Human Reproduction, Год журнала: 2025, Номер unknown

Опубликована: Март 23, 2025

In patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS; population), is the presence of functional endometrium (FE) in uterine remnants (URs) (exposure), compared absence FE UR/absence UR (comparison), associated a higher prevalence endometriosis (outcome)? The aggregate was considerably MRKHS (MRKHSFE+) than those without (MRKHSFE-). pathogenesis not fully understood. finding pelvic one main objections to retrograde menstruation (RM) hypothesis. recent advent high-resolution ultrasonography and magnetic resonance imaging (MRI) allowed reliable preoperative identification concealed within UR, histopathological examination after removal no longer only means verifying mucosal component. A similar MRKHSFE+ MRKHSFE- patients, as assessed by ultrasound (US) and/or MRI, would essentially rule out RM/implantation theory, whereas substantially challenge embryonic remnants/coelomic metaplasia This systematic review restricted full-length, English-language articles published peer-reviewed journals between 1 January 1980 June 2024. electronic PubMed Embase databases were searched keyword 'endometriosis' used combination 'Mayer-Rokitansky-Küster-Hauser syndrome', 'Müllerian agenesis', 'uterine 'vaginal anomalies', 'female genital malformations'. References from relevant publications screened, PubMed's 'similar articles' 'cited by' functions used. Studies selected if they reported or investigated US MRI histology surgical removal, surgically confirmed endometriosis. Case series case reports deemed eligible for inclusion. specifically stating intent search reporting results histological examinations excluded. Two reviewers independently abstracted data. risk bias using tool devised ascertain methodological quality reports. total 102 studies (29 73 reports), comprising 666 whom verified included. Endometriosis detected 71 participants (10.7%; 95% CI, 8.5-13.2%), its 8.6% (51/593; 6.6-11.2%) 27.4% (20/73; 18.4-38.6%) (P<0.0001). When considering 19 ≥10 participants, proportion 3.4% (41/1219; 2.5-4.5%). Among endometriosis, 64 had coexisting FE, seven evidence did have UR. 32.0% subgroup (64/200; 25.9-38.8%) 1.5% (7/466; 0.7-3.1%) UR/without At meta-analysis series, overall estimates were, respectively, 16.8% (95% 1.8-38.5%) 0% 0-0%). order evaluate association we also conducted that included both FE+ FE- patients. significantly increased observed (overall odds ratio estimate 12.0; 5.1-28.3%). score (median score, 4 points; interquartile range, 3-5 points) 3 2-4 points). Due uncontrolled non-experimental study design, are an selection, performance, detection, attrition, bias. cases purportedly systematically performed erroneous findings reported, anatomical description at surgery incomplete inconsistent, diagnosis missing questionable, precise microscopic features always described. Whether (exposure) truly absent all these whether lesions diagnosed (outcome) indeed true disease, seems uncertain. Our should raise awareness importance accurately assessing performing biopsies visually Considering high bias, detection allegedly few last four decades be interpreted tout court proof coelomic metaplasia/embryonic theory. No funding received this review. P.Ve. member Editorial Board Human Reproduction Open, Journal Obstetrics Gynaecology Canada, International Acta Obstetricia et Gynecologica Scandinavica; has royalties Wolters Kluwer chapters on management clinical decision support resource UpToDate; maintains public private gynaecological practice. E.S. Editor-in-Chief Open; discloses payments Ferring research grants honoraria Merck-Serono lectures; P.Vi. Co-Editor-in-Chief Uterine Disorders. All other authors declare conflict interest. protocol registered PROSPERO (registration number, CRD42024512351).

Язык: Английский

Potential anatomical determinants of retrograde menstruation: a comprehensive narrative review

Reproductive BioMedicine Online, Год журнала: 2024, Номер 49(4), С. 104345 - 104345

Опубликована: Июнь 21, 2024

Язык: Английский