597 research outputs found
Comparative Analysis of Fluorescence In Situ Hybridization and Next-Generation Sequencing in Sperm Evaluation: Implications for Preimplantation Genetic Testing and Male Infertility
No full textPre-implantation genetic testing (PGT) is a crucial process for selecting embryos created through assisted reproductive technology (ART). Couples with chromosomal rearrangements, infertility, recurrent miscarriages, advanced maternal age, known single-gene disorders, a family history of genetic conditions, previously affected pregnancies, poor embryo quality, or congenital anomalies may be candidates for PGT. Preimplantation genetic testing for aneuploidies (PGT-A) enables the selection and transfer of euploid embryos, significantly enhancing implantation rates in assisted reproduction. Fluorescence in situ hybridization (FISH) is the preferred method for analyzing biopsied cells to identify these abnormalities. While FISH is a well-established method for identifying sperm aneuploidy, NGS offers a more comprehensive assessment of genetic material, potentially enhancing our understanding of male infertility. Chromosomal abnormalities, arising during meiosis, can lead to aneuploid sperm, which may hinder embryo implantation and increase miscarriage rates. This review provides a comparative analysis of fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS) in sperm evaluations, focusing on their implications for preimplantation genetic testing. This analysis explores the strengths and limitations of FISH and NGS, aiming to elucidate their roles in improving ART outcomes and reducing the risk of genetic disorders in offspring. Ultimately, the findings will inform best practices in sperm evaluations and preimplantation genetic testing strategies
Reproductive Health in Women with Major β-Thalassemia: Evaluating Ovarian Reserve and Endocrine Complications
No full textThalassemia is an autosomal recessive hereditary chronic hemolytic anemia characterized by a partial or complete deficiency in the synthesis of alpha- or beta-globin chains, which are essential components of adult hemoglobin. Mutations in the globin genes lead to the production of unstable globin chains that precipitate within cells, causing hemolysis. This shortens the lifespan of mature red blood cells (RBCs) and results in the premature destruction of RBC precursors in the bone marrow. Regular red blood cell transfusions are the standard treatment for thalassemia. However, these transfusions can lead to increased iron overload, which can impair vital systems such as the liver, heart, ovaries, and endocrine system. Focusing on female reproductive endocrinology, recurrent blood transfusions can cause iron accumulation in the pituitary and hypothalamus, leading to hypogonadotropic hypogonadism (HH), the most common endocrinopathy in these patients, affecting 40–91% of women. Recurrent transfusions and the resulting iron overload can also lead to oxidative stress and ovarian damage in patients with beta-thalassemia major (BTM). Despite advancements in iron chelation therapy, hypothalamic–pituitary damage associated with HH contributes to subfertility and sexual dysfunction, often with little to no recovery. In women exposed to gonadotoxic drugs, particularly those with BTM, anti-Mullerian hormone (AMH)—a marker of ovarian reserve—is frequently used to assess ovarian damage. This review aims to explore the pathophysiology of β-thalassemia and its major clinical manifestations, with a focus on endocrine complications and their impact on ovarian reserve. It also investigates how metabolomics can provide insights into the disease’s metabolic alterations and inform current and emerging therapeutic strategies to mitigate complications and optimize patient outcomes, potentially leading to more effective and personalized treatments
High-Risk Outcomes in In Vitro Fertilization Pregnancies for Women of a Very Advanced Maternal Age: Insights from a Multi-Hospital Study in Greece
No full textBackground: In vitro fertilization (IVF) has transformed infertility treatment, yet it is associated with increased risks of adverse perinatal outcomes, particularly in women of advanced maternal age. This study aimed to investigate the prevalence of complications such as preeclampsia (PE), gestational diabetes mellitus (GDM), preterm labor (PTL), low birth weight (LBW), and placental abnormalities (PA) among women over 50 undergoing assisted reproductive technology (ART) in Greece, where the eligibility age limit has been recently raised to 54 years. Methods: We conducted a retrospective analysis of pregnancy outcomes in women over 50 compared to those under 50, utilizing medical records mainly from University Hospital of Ioannina but also from other public hospitals and private clinics in Greece. Results: Our findings indicate that women over 50 face an increased risk of developing preeclampsia (PE) by 4.61 times, GDM by 1.69 times, PTL by 1.82 times, LBW by 1.67 times, and PA by 3.92 times. Conclusions: These results underscore the need for heightened awareness and the monitoring of pregnancy complications in this demographic, informing clinical strategies to improve maternal and neonatal outcomes.This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).Journal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text
Oxidative-Stress-Mediated Epigenetic Dysregulation in Spermatogenesis: Implications for Male Infertility and Offspring Health
No full textMale reproductive health is governed by an intricate interplay of genetic, epigenetic, and environmental factors. Epigenetic mechanisms-encompassing DNA methylation, histone modifications, and non-coding RNA activity-are crucial both for spermatogenesis and sperm maturation. However, oxidative stress, driven by excessive reactive oxygen species, disrupts these processes, leading to impaired sperm function and male infertility. This disruption extends to epigenetic modifications, resulting in abnormal gene expression and chromatin remodeling that compromise genomic integrity and fertilization potential. Importantly, oxidative-stress-induced epigenetic alterations can be inherited, affecting the health and fertility of offspring and future generations. This review investigates how oxidative stress influences epigenetic regulation in male reproduction by modifying DNA methylation, histone modifications, and non-coding RNAs, ultimately compromising spermatogenesis. Additionally, it discusses the transgenerational implications of these epigenetic disruptions and their potential role in hereditary infertility and disease predisposition. Understanding these mechanisms is vital for developing therapeutic strategies that mitigate oxidative damage and restore epigenetic homeostasis in the male germline. By integrating insights from molecular, clinical, and transgenerational research, this work emphasizes the need for targeted interventions to enhance male reproductive health and prevent adverse outcomes in progeny. Furthermore, elucidating the dose-response relationships between oxidative stress and epigenetic changes remains a critical research priority, informing personalized diagnostics and therapeutic interventions. In this context, future studies should adopt standardized markers of oxidative damage, robust clinical trials, and multi-omic approaches to capture the complexity of epigenetic regulation in spermatogenesis. Such rigorous investigations will ultimately reduce the risk of transgenerational disorders and optimize reproductive health outcomes.Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).Journal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text
The Roles of GDF-9, BMP-15, BMP-4 and EMMPRIN in Folliculogenesis and In Vitro Fertilization
No full textGrowth differentiation factor 9 (GDF-9) contributes to early ovarian development and oocyte survival. Higher concentrations of GDF-9 in follicular fluid (FF) are associated with oocyte nuclear maturation and optimal embryo development. In in vitro fertilization (IVF), GDF-9 affects the ability of the oocyte to fertilize and subsequent embryonic development. Bone morphogenetic protein 15 (BMP-15) is involved in the regulation of ovarian function and affects oocyte development. During IVF, BMP-15 contributes to the formation of competent blastocysts. BMP-15 may play a role in embryo implantation by affecting endometrial receptivity. Bone morphogenetic protein 4 (BMP-4) is involved in the regulation of follicle growth and development and affects granulosa cell (GC) differentiation. In relation to IVF, BMP-4 is important for embryonic development, influences cell fate and differentiation, and plays a role in facilitating embryo-endometrial interactions during the implantation process. Extracellular matrix metalloproteinase inducer (EMMPRIN) is associated with ovulation and follicle rupture, promotes the release of mature eggs, and affects the modification of the extracellular matrix of the follicular environment. In IVF, EMMPRIN is involved in embryo implantation by modulating the adhesive properties of endometrial cells and promotes trophoblastic invasion, which is essential for pregnancy to occur. The purpose of the current article is to review the studies and recent findings of GDF-9, BMP-15, BMP-4 and EMMPRIN as fundamental factors in normal follicular development and in vitro fertilization.Published version, accepted version, submitted versionJournal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text
Impact of Reductive Stress on Human Infertility: Underlying Mechanisms and Perspectives
No full textAntioxidants have a well-established effect on general health and are essential in preventing oxidative damage to cells by scavenging free radicals. Free radicals are thought to be neutralized by these substances, which include polyphenols, β-carotene, and vitamins C and E, reducing cellular damage. On the other hand, recent data indicates that consuming excessive amounts of antioxidants may have side effects. Apoptosis and cell signaling are two beneficial physiological processes that are affected by excessive supplementation. Other negative effects include paradoxical enhancement of oxidative stress and unbalanced cellular redox potential. Overdosing on particular antioxidants has been associated with increased medication interactions, cancer progression, and fatality risks. Additionally, the complex impacts they may have on fertility might be both useful and adverse, depending on the quantity and duration of usage. This review delves into the dual role of antioxidants and emphasizes the importance of employing antioxidants in moderation. Antioxidant overconsumption may disrupt the oxidative balance necessary for normal sperm and oocyte function, which is one of the potential negative effects of antioxidants on fertility in both males and females that are also investigated. Although modest usage of antioxidants is generally safe and useful, high levels of antioxidants can upset hormonal balance, impair sperm motility, and negatively impact the outcomes of assisted reproductive technologies (ART). The findings emphasize the need to use antioxidant supplements in a balanced way, the importance of further research to optimize their use in fertility treatments, and the importance of supporting reproductive health to avoid adverse effects
Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report
No full textA curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as “clinodactyly” and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease. We report the case of a fetus diagnosed with clinodactyly of the thumb accompanied by tachycardia, abnormal levels of maternal hormones in the first trimester and increased impedance to flow in the uterine arteries. Although non-invasive prenatal testing was normal, amniocentesis was carried out and two deviations at chromosome 20 were identified through molecular karyotyping. Our report aims to raise clinical suspicion regarding the potential association between genetic abnormalities and clinodactyly. A careful clinical and genetic consultation is required in order to achieve the most favorable outcome for both mother and child
Clinical utility of anti-Müllerian hormone in female children and adolescents
No full textAnti-Müllerian hormone (AMH) is a dimeric glycoprotein that belongs to the transforming growth factor beta superfamily and plays essential roles in sexual differentiation and folliculogenesis. In the male embryo, AMH is produced by the Sertoli cells and induces the involution of the Müllerian ducts. In females, AMH is predominately produced by the granulosa cells of growing preantral and small antral follicles and regulates follicular maturation. Many recent studies have highlighted the significant role of this hormone in the diagnostic approach to female children and adolescents with various disorders that affect ovarian development and function. AMH is considered a valuable diagnostic tool in the management of female pediatric patients with conditions such as polycystic ovary syndrome, precocious puberty, ovarian tumors, differences in sex development, and premature ovarian insufficiency. Standardization of AMH assays, internationally approved reference values based on age and pubertal stage, and widespread availability of the test could further upgrade the clinical utility of AMH, rendering it a valuable tool in the armamentarium of physicians involved in the care of female children and adolescents, and promote future research.Not hel
The Δρομοδείχτης της Ελλάδος of 1824 and Athanasios Stageirites (Τίτλος περίληψης)
No full textσ. [281]-290Κείμενο στα ελληνικά με περίληψη στα αγγλικά με τον τίτλο: The Δρομοδείχτης της Ελλάδος of 1824 and Athanasios StageiritesThe article first examines the close relationship between the publication “Δρομοδείχτης της Ελλάδος” [1824] and the publication “Ηπειρωτικά” (1819) by Athanasios Stageirites and then suggests that Athanasios Stageirites is the likeliest author of the “Δρομοδείχτης της Ελλάδος”.Δωδώνη: Τεύχος Πρώτο: επιστημονική επετηρίδα του Τμήματος Ιστορίας και Αρχαιολογίας της Φιλοσοφικής Σχολής του Πανεπιστημίου Ιωαννίνων; Τόμ. 43-44 (2014-2015
Dataset in support of the Southampton doctoral thesis 'The boatbuilding tradition of the Aegean during the Late Neolithic – Early Bronze Age periods. Typological classification, digital reconstruction and seakeeping assessment'
No full textDataset in support of the Southampton doctoral thesis 'The boatbuilding tradition of the Aegean during the Late Neolithic – Early Bronze Age periods. Typological classification, digital reconstruction and seakeeping assessment' Appendix D - Resistance data and Appendix C - Stability data.
This dataset is focused on two appendices:
Appendix D - Resistance data. D.1 Resistance data produced by the author via MAXSURF Resistance for this thesis.
Appendix C - Stability data
C1. Stability data – STIX and ISO criteria, produced by the author via MAXSURF Stability software for his thesis
This research was funded by Southampton Marine and Maritime Institute (SMMI), Vice-Chancellor's Scholarship, Greek Archaeological Committee UK (GACUK)
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