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Biomedicines
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Advanced Research in Endometriosis 4.0
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Advanced Research in Endometriosis 4.0

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 11284

Special Issue Editor

Dr. Nikolaos Machairiotis

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Guest Editor
Department Obstetrics/Gynaecology, Northwick Park Hospital, London North West University Healthcare NHS Trust, Watford Rd., Harrow, London HA1 3UJ, UK
Interests: endometriosis; pain; inflammation; inhibitors
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Endometriosis is a chronic, inflammatory, benign disease commonly found in women of reproductive age. However, it can affect people of all ages, and it has also been found in men and animals as well as fetuses. Unfortunately, 7–10 years tend to pass until the diagnosis is made. This Special Issue provides an excellent opportunity for a thorough analysis of the pathophysiology of the disease, the signs and symptoms, and the type of pain associated with endometriosis. Categories of endometriosis can be identified, and conservative and surgical techniques can be provided. An important research area is the pain associated with endometriosis. One of the causative factors for the pain in endometriosis is inflammation. The suppression of inflammatory mediators by inhibiting their synthesis might offer novel and effective treatments for inflammatory pain in endometriosis. This Special Issue welcomes new and innovative original studies and detailed reviews in this field.

Dr. Nikolaos Machairiotis
Guest Editor

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • mutations
  • biomarkers
  • diagnosis
  • treatment
  • pelvic pain
  • endometriosis
  • patient care
  • imaging
  • infertility
  • inhibitors
  • comorbidity
  • recurrence

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Related Special Issue

Published Papers (7 papers)

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Research

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10 pages, 1659 KiB  
Article
Innovative Ultrasound Criteria for the Diagnosis of Adenomyosis and Correlation with Symptoms: A Retrospective Re-Evaluation
by Anna Biasioli, Matilde Degano, Stefano Restaino, Margherita Bagolin, Francesca Moro, Francesca Ciccarone, Antonia Carla Testa, Pantaleo Greco, Giovanni Scambia, Giuseppe Vizzielli, Lorenza Driul and The Udine Hospital Endometriosis Group
Biomedicines 2024, 12(2), 463; https://doi.org/10.3390/biomedicines12020463 - 19 Feb 2024
Cited by 2 | Viewed by 2637
Abstract
The 2022 Delphi revision of the MUSA (Morphological Uterus Sonographic Assessment) criteria for the ultrasound diagnosis of adenomyosis divides the ultrasound signs for diagnosis into direct and indirect ones, considering the presence of at least one direct sign as a mandatory criterion. This [...] Read more.
The 2022 Delphi revision of the MUSA (Morphological Uterus Sonographic Assessment) criteria for the ultrasound diagnosis of adenomyosis divides the ultrasound signs for diagnosis into direct and indirect ones, considering the presence of at least one direct sign as a mandatory criterion. This study aimed to reclassify the patients referred to the Pelvic Pain specialist outpatient clinic of the Gynecological Clinic of Udine according to the new criteria, evaluating the number of overdiagnoses and the possible correlation between the direct and indirect signs and the patients’ symptoms. 62 patients affected by adenomyosis were retrospectively recruited. The patients were then re-evaluated by ultrasound and clinically. At least one direct sign of adenomyosis was found in 52 patients, while 16% of the population examined did not present any. There was no statistically significant difference between patients presenting direct signs and those presenting none for the symptoms considered. According to the new criteria, 16% of the patients examined were not affected by adenomyosis; applying the new consensus to symptomatic patients could increase false negatives. In a population of symptomatic patients, the diagnosis of adenomyosis is still highly probable even without direct ultrasound signs, given the clinical symptoms and having ruled out other causes of such symptoms. Full article
(This article belongs to the Special Issue Advanced Research in Endometriosis 4.0)
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<p>Ultrasound image of the uterus of one of the ten patients who presented only indirect signs (shadowing, highlighted in orange in the figure). The patient was symptomatic (dysmenorrhea).</p> Full article ">
11 pages, 1495 KiB  
Article
Diagnosis of Endometriosis Based on Comorbidities: A Machine Learning Approach
by Ulan Tore, Aibek Abilgazym, Angel Asunsolo-del-Barco, Milan Terzic, Yerden Yemenkhan, Amin Zollanvari and Antonio Sarria-Santamera
Biomedicines 2023, 11(11), 3015; https://doi.org/10.3390/biomedicines11113015 - 10 Nov 2023
Cited by 5 | Viewed by 1742
Abstract
Endometriosis is defined as the presence of estrogen-dependent endometrial-like tissue outside the uterine cavity. Despite extensive research, endometriosis is still an enigmatic disease and is challenging to diagnose and treat. A common clinical finding is the association of endometriosis with multiple diseases. We [...] Read more.
Endometriosis is defined as the presence of estrogen-dependent endometrial-like tissue outside the uterine cavity. Despite extensive research, endometriosis is still an enigmatic disease and is challenging to diagnose and treat. A common clinical finding is the association of endometriosis with multiple diseases. We use a total of 627,566 clinically collected data from cases of endometriosis (0.82%) and controls (99.18%) to construct and evaluate predictive models. We develop a machine learning platform to construct diagnostic tools for endometriosis. The platform consists of logistic regression, decision tree, random forest, AdaBoost, and XGBoost for prediction, and uses Shapley Additive Explanation (SHAP) values to quantify the importance of features. In the model selection phase, the constructed XGBoost model performs better than other algorithms while achieving an area under the curve (AUC) of 0.725 on the test set during the evaluation phase, resulting in a specificity of 62.9% and a sensitivity of 68.6%. The model leads to a quite low positive predictive value of 1.5%, but a quite satisfactory negative predictive value of 99.58%. Moreover, the feature importance analysis points to age, infertility, uterine fibroids, anxiety, and allergic rhinitis as the top five most important features for predicting endometriosis. Although these results show the feasibility of using machine learning to improve the diagnosis of endometriosis, more research is required to improve the performance of predictive models for the diagnosis of endometriosis. This state of affairs is in part attributed to the complex nature of the condition and, at the same time, the administrative nature of our features. Should more informative features be used, we could possibly achieve a higher AUC for predicting endometriosis. As a result, we merely perceive the constructed predictive model as a tool to provide auxiliary information in clinical practice. Full article
(This article belongs to the Special Issue Advanced Research in Endometriosis 4.0)
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Figure 1

Figure 1
<p>A general view of the machine learning pipeline.</p> Full article ">Figure 2
<p>A schematic diagram of the joint model-feature selection.</p> Full article ">Figure 3
<p>The ROC curves for the best-performing model in each class of algorithm.</p> Full article ">Figure 4
<p>(<b>a</b>) Bar plot of top 10 features according to SHAP analysis. (<b>b</b>) Beeswarm plot of top 10 features according to SHAP analysis.</p> Full article ">
21 pages, 1469 KiB  
Article
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort
by Aurora Santin, Beatrice Spedicati, Anna Morgan, Stefania Lenarduzzi, Paola Tesolin, Giuseppe Giovanni Nardone, Daniela Mazzà, Giovanni Di Lorenzo, Federico Romano, Francesca Buonomo, Alessandro Mangogna, Maria Pina Concas, Gabriella Zito, Giuseppe Ricci and Giorgia Girotto
Biomedicines 2023, 11(8), 2122; https://doi.org/10.3390/biomedicines11082122 - 27 Jul 2023
Cited by 3 | Viewed by 1574
Abstract
Endometriosis (EM) is a common multifactorial gynaecological disorder. Although Genome-Wide Association Studies have largely been employed, the current knowledge of the genetic mechanisms underlying EM is far from complete, and other approaches are needed. To this purpose, whole-exome sequencing (WES) was performed on [...] Read more.
Endometriosis (EM) is a common multifactorial gynaecological disorder. Although Genome-Wide Association Studies have largely been employed, the current knowledge of the genetic mechanisms underlying EM is far from complete, and other approaches are needed. To this purpose, whole-exome sequencing (WES) was performed on a deeply characterised cohort of 80 EM patients aimed at the identification of rare and damaging variants within 46 EM-associated genes and novel candidates. WES analysis detected 63 rare, predicted, and damaging heterozygous variants within 24 genes in 63% of the EM patients. In particular, (1) a total of 43% of patients carried variants within 13 recurrent genes (FCRL3, LAMA5, SYNE1, SYNE2, GREB1, MAP3K4, C3, MMP3, MMP9, TYK2, VEGFA, VEZT, RHOJ); (2) a total of 8.8% carried private variants within eight genes (KAZN, IL18, WT1, CYP19A1, IL1A, IL2RB, LILRB2, ZNF366); (3) a total of 24% carried variants within three novel candidates (ABCA13, NEB, CSMD1). Finally, to deepen the polygenic architecture of EM, a comprehensive evaluation of the analysed genes was performed, revealing a higher burden (p < 0.05) of genes harbouring rare and damaging variants in the EM patients than in the controls. These results highlight new insights into EM genetics, allowing for the definition of novel genotype–phenotype correlations, thereby contributing, in a long-term perspective, to the development of personalised care for EM patients. Full article
(This article belongs to the Special Issue Advanced Research in Endometriosis 4.0)
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Graphical abstract

Graphical abstract
Full article ">Figure 1
<p>Schematic representation of the study workflow. A total of 80 adult patients with confirmed EM diagnoses were enrolled at I.R.C.C.S. “Burlo Garofolo” Hospital in Trieste (Italy). All the patients underwent a deep clinical evaluation, during which detailed information was collected regarding demographic data, past and familial medical history, gynaecological anamnesis, and EM-associated symptoms. Further, for each patient, a peripheral blood withdrawal was collected for WES analysis. The WES results were then compared with the WES data of the 105-healthy-women cohort. Finally, the correlation between the identified variants and the clinical phenotype of each patient was examined. Created with BioRender.com (accessed on 21 May 2023).</p> Full article ">Figure 2
<p>WES analysis results of EM cohort. The bar plot shows, for each gene (<span class="html-italic">x</span>-axis), the number of EM patients carrying rare, predicted, and damaging variants (<span class="html-italic">y</span>-axis) in descending order. Results are represented in a colour code according to WES result classification reported in <a href="#sec3dot2-biomedicines-11-02122" class="html-sec">Section 3.2</a>: (1) the recurrent genes are reported in the blue colour, (2) the single genes are reported in turquoise, and (3) the novel candidate genes identified are reported in light blue.</p> Full article ">

Review

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25 pages, 1287 KiB  
Review
The Impact of Adenomyosis on Pregnancy
by Panagiotis Tsikouras, Nektaria Kritsotaki, Konstantinos Nikolettos, Sonia Kotanidou, Efthymios Oikonomou, Anastasia Bothou, Sotiris Andreou, Theopi Nalmpanti, Kyriaki Chalkia, Vlasios Spanakis, Nikolaos Tsikouras, Melda Chalil, Nikolaos Machairiotis, George Iatrakis and Nikolaos Nikolettos
Biomedicines 2024, 12(8), 1925; https://doi.org/10.3390/biomedicines12081925 - 22 Aug 2024
Viewed by 572
Abstract
Adenomyosis is characterized by ectopic proliferation of endometrial tissue within the myometrium. Histologically, this condition is marked by the presence of islands of benign endometrial glands surrounded by stromal cells. The myometrium appears thinner, and cross-sectional analysis often reveals signs of recent or [...] Read more.
Adenomyosis is characterized by ectopic proliferation of endometrial tissue within the myometrium. Histologically, this condition is marked by the presence of islands of benign endometrial glands surrounded by stromal cells. The myometrium appears thinner, and cross-sectional analysis often reveals signs of recent or chronic hemorrhage. The ectopic endometrial tissue may respond to ovarian hormonal stimulation, exhibiting proliferative or secretory changes during the menstrual cycle, potentially leading to bleeding, uterine swelling, and pain. Adenomyosis can appear as either a diffuse or focal condition. It is crucial to understand that adenomyosis involves the infiltration of the endometrium into the myometrium, rather than its displacement. The surgical management of adenomyosis is contingent upon its anatomical extent. The high incidence of the disease and the myths that develop around it increase the need to study its characteristics and its association with pregnancy and potential obstetric complications. These complications often require quick decisions, appropriate diagnosis, and proper counseling. Therefore, knowing the possible risks associated with adenomyosis is key to decision making. Pregnancy has a positive effect on adenomyosis and its painful symptoms. This improvement is not only due to the inhibition of ovulation, which inhibits the bleeding of adenomyotic tissue, but also to the metabolic, hormonal, immunological, and angiogenic changes associated with pregnancy. Adenomyosis affects pregnancy through disturbances of the endocrine system and the body’s immune response at both local and systemic levels. It leads to bleeding from the adenomyotic tissue, molecular and functional abnormalities of the ectopic endometrium, abnormal placentation, and destruction of the adenomyotic tissue due to changes in the hormonal environment that characterizes pregnancy. Some of the obstetric complications that occur in women with adenomyosis in pregnancy include miscarriage, preterm delivery, placenta previa, low birth weight for gestational age, obstetric hemorrhage, and the need for cesarean section. These complications are an understudied field and remain unknown to the majority of obstetricians. These pathological conditions pose challenges to both the typical progression of pregnancy and the smooth conduct of labor in affected women. Further multicenter studies are imperative to validate the most suitable method for concluding labor following surgical intervention for adenomyosis. Full article
(This article belongs to the Special Issue Advanced Research in Endometriosis 4.0)
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Figure 1

Figure 1
<p>KRAS signaling pathways. KRAS pathway is activated by a receptor tyrosine kinase and regulates the intracellular pathways of mTOR, ERK and NF-kB. GAP: GTPase activating proteins; GEF: guanine-nucleotide exchange factors.</p> Full article ">Figure 2
<p>Theories explaining the origin of adenomyosis.</p> Full article ">Figure 3
<p>Mechanisms that redound adenomyosis in negative pregnancy outcomes.</p> Full article ">
14 pages, 893 KiB  
Review
Endometriosis in Transgender Men: Bridging Gaps in Research and Care—A Narrative Review
by Aris Kaltsas, Marios Stavropoulos, Evangelos N. Symeonidis, Zisis Kratiras, Athanasios Zachariou, Athanasios Zikopoulos, Efthalia Emmanouela Chrisofos, Fotios Dimitriadis, Nikolaos Sofikitis and Michael Chrisofos
Biomedicines 2024, 12(7), 1481; https://doi.org/10.3390/biomedicines12071481 - 4 Jul 2024
Viewed by 1120
Abstract
Endometriosis is a debilitating gynecological condition commonly seen in individuals designated female at birth; however, there has been limited research focused on its prevalence and impact among transgender men. This narrative review aims to fill a critical knowledge gap by exploring the epidemiology, [...] Read more.
Endometriosis is a debilitating gynecological condition commonly seen in individuals designated female at birth; however, there has been limited research focused on its prevalence and impact among transgender men. This narrative review aims to fill a critical knowledge gap by exploring the epidemiology, clinical manifestations, management strategies, and quality-of-life implications of endometriosis among transgender individuals who identify as male. Specifically, this study seeks to estimate the prevalence rates and describe the symptoms experienced by transgender men undergoing testosterone therapy. Additionally, it addresses the diagnostic challenges posed by hormonal treatments and the lack of culturally competent healthcare services for this population. Recent molecular studies indicate that hormonal imbalances, such as increased estrogen synthesis and progesterone resistance, are significant factors in the persistence of endometriosis symptoms despite testosterone therapy. Moreover, evidence suggests that testosterone therapy may not always suppress endometrial activity completely, contributing to the persistence of symptoms in some individuals. Endometriosis in transgender men requires personalized approaches that consider both testosterone therapy and its interactions with endometriosis, as well as fertility preservation and the psychosocial aspects of treatment. This review emphasizes the necessity of taking an inclusive approach in both research and clinical practice to improve healthcare outcomes for this underserved population. The results demonstrate how continued research, education, and healthcare services tailored specifically to transgender men are necessary to better understand and treat endometriosis, thus improving both their overall health and quality of life. Full article
(This article belongs to the Special Issue Advanced Research in Endometriosis 4.0)
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Figure 1

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<p>Effects of testosterone treatment and conversion to estrogen in transgender men.</p> Full article ">Figure 2
<p>Impact of endometriosis on various aspects of life among transgender men.</p> Full article ">
20 pages, 371 KiB  
Review
Endometriosis: A Comprehensive Analysis of the Pathophysiology, Treatment, and Nutritional Aspects, and Its Repercussions on the Quality of Life of Patients
by Gabriela Cano-Herrera, Sylvia Salmun Nehmad, Jimena Ruiz de Chávez Gascón, Amairani Méndez Vionet, Ximena A. van Tienhoven, María Fernanda Osorio Martínez, Mauricio Muleiro Alvarez, Mariana Ximena Vasco Rivero, María Fernanda López Torres, María Jimena Barroso Valverde, Isabel Noemi Torres, Alexa Cruz Olascoaga, Maria Fernanda Bautista Gonzalez, José Antonio Sarkis Nehme, Ignacio Vélez Rodríguez, Renata Murguiondo Pérez, Felipe Esparza Salazar, Ana Gabriela Sierra Bronzon, Eder Gabriel Rivera Rosas, Dante Carbajal Ocampo and Ramiro Cabrera Carrancoadd Show full author list remove Hide full author list
Biomedicines 2024, 12(7), 1476; https://doi.org/10.3390/biomedicines12071476 - 4 Jul 2024
Cited by 1 | Viewed by 1779
Abstract
Endometriosis is a chronic proinflammatory pathology characterized by the growth of tissue similar to the endometrium outside the uterus, affecting approximately 5 to 15% of women worldwide. Suffering from endometriosis entails a complex pathophysiological process, significantly impacting the quality of life and reproductive [...] Read more.
Endometriosis is a chronic proinflammatory pathology characterized by the growth of tissue similar to the endometrium outside the uterus, affecting approximately 5 to 15% of women worldwide. Suffering from endometriosis entails a complex pathophysiological process, significantly impacting the quality of life and reproductive function of affected women; therefore, it must be addressed in a personalized and comprehensive manner, as its management requires a multidisciplinary approach. This article aims to conduct a comprehensive literature review of endometriosis, not only as a pathophysiological condition but also as a significant factor impacting the social, nutritional, and mental well-being of those who experience it. Emphasis is placed on the importance of understanding and assessing the impact of the pathology to provide a better and more comprehensive approach, integrating various alternatives and strategic treatments for the factors involved in its development. The aim is to provide a complete overview of endometriosis, from its pathophysiology to its impact on the quality of life of patients, as well as a review of current treatment options, both pharmacological and alternative, in order to broaden the perspective on the pathology to improve the care of patients with this disease. Full article
(This article belongs to the Special Issue Advanced Research in Endometriosis 4.0)

Other

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15 pages, 440 KiB  
Systematic Review
The Different Gene Expression Profile in the Eutopic and Ectopic Endometrium Sheds New Light on the Endometrial Seed in Endometriosis
by Muhammad Assad Riaz, Ezekiel Onyonka Mecha, Charles O. A. Omwandho, Felix Zeppernick, Ivo Meinhold-Heerlein and Lutz Konrad
Biomedicines 2024, 12(6), 1276; https://doi.org/10.3390/biomedicines12061276 - 8 Jun 2024
Viewed by 683
Abstract
The changes in endometrial cells, both in the eutopic endometrium of patients with and without endometriosis and in lesions at ectopic sites, are frequently described and often compared to tumorigenesis. In tumorigenesis, the concept of “seed and soil” is well established. The seed [...] Read more.
The changes in endometrial cells, both in the eutopic endometrium of patients with and without endometriosis and in lesions at ectopic sites, are frequently described and often compared to tumorigenesis. In tumorigenesis, the concept of “seed and soil” is well established. The seed refers to tumor cells with metastatic potential, and the soil is any organ or tissue that provides a suitable environment for the seed to grow. In this systematic review (PRISMA-S), we specifically compared the development of endometriosis with the “seed and soil” hypothesis. To determine changes in the endometrial seed, we re-analyzed the mRNA expression data of the eutopic and ectopic endometrium, paying special attention to the epithelial–mesenchymal transition (EMT). We found that the similarity between eutopic endometrium without and with endometriosis is extremely high (~99.1%). In contrast, the eutopic endometrium of patients with endometriosis has a similarity of only 95.3% with the ectopic endometrium. An analysis of EMT-associated genes revealed only minor differences in the mRNA expression levels of claudin family members without the loss of other cell–cell junctions that are critical for the epithelial phenotype. The array data suggest that the changes in the eutopic endometrium (=seed) are quite subtle at the beginning of the disease and that most of the differences occur after implantation into ectopic locations (=soil). Full article
(This article belongs to the Special Issue Advanced Research in Endometriosis 4.0)
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<p>PRISMA flowchart of the literature search and data selection. This systematic retrospective review is based on literature research conducted in PubMed. The main focus was on mRNA/cDNA array analysis, EMT, and endometriosis in the eutopic and ectopic endometrium. These reports were carefully read, and data were extracted.</p> Full article ">
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