International Journal of Molecular Sciences

ObjectiveAs an idiopathic hypertensive disorder of pregnancy, pre-eclampsia (PE) remains a major cause of maternal and neonatal morbidity and mortality, with no effective strategy for causal treatment. MethodsThis study was performed by downloading the Gene Expression Omnibus (GEO) database (http://www.ncbi.nlm.nih.gov/geo/) based on the GSE173193 dataset, including single-cell sequencing data from placental samples of two PE patients and two normal controls. Placental cell subpopulations and t...

Pompe disease is an autosomal recessive disorder caused by GAA variants leading to acid alpha-glucosidase deficiency. Diagnosis is challenging due to the variable phenotypic presentation and overlap with other conditions. Traditionally, diagnosis relies on measuring enzyme activity, but next-generation sequencing (NGS) advancements have improved accuracy. However, interpreting variants is complex, especially because pseudodeficiency alleles mimic disease-causing variants. We present two patients...

BackgroundInflammation is currently recognized as one of the major causes of premature delivery. As a member of the IL-1{beta} family, interleukin-33 (IL-33) has been shown to be involved in a variety of pregnancy-related diseases. This study aims to investigate the potential function of IL-33 in uterine smooth muscle cells during labor. MethodsSamples of myometrium from term pregnant ([≥]37 weeks gestation) women were frozen or cells were isolated and cultured. Immunohistochemistry and west...

Pre-eclampsia (PE) is a hypertensive pregnancy complication. Oxidative stress is hypothesized to contribute to the pathophysiology of PE. Both the hydrogen sulfide (H2S) and oxytocin (OT) systems might play a role in the pathophysiology of PE, liked to their anti-oxidant and hypotensive effects. Thus, the role of the interaction of the OT and H2S systems in the context of PE was further elucidated in the present clinical case control study "NU-HOPE" (Nurnberg-Ulm: The role of H2S and Oxytocin Re...

BackgroundPlacentae of women with preeclampsia (PE) exhibit reduced levels of kynurenine (Kyn), a biological compound derived from tryptophan metabolism with antioxidant, vasorelaxant, and hypotensive properties. Little is known regarding functional levels of the Kyn metabolizing enzymes (KYNME) in women with preeclampsia. Since high circulating levels of syncytiotrophoblast extracellular vesicles (STB-EVs) have been associated with preeclampsia onset, we aimed to study whether Kyn reduction in ...

BackgroundLack of knowledge on the processes driving endometriosis hinders early detection and therapy development. Our purpose was to identify key molecular events involved in lesion formation across diverse populations and to detect transcriptomic changes in eutopic endometrium that accompany endometriosis. MethodsWe searched Gene Expression Omnibus and ArrayExpress and performed differential gene expression analysis and a network meta-analysis on nine qualifying datasets. Those contained tra...

BACKGROUNDPatients with endometriosis experience chronic, inflammatory symptoms including severe pelvic pain and infertility, caused by endometrial-like tissue growth outside the uterus. Endometriosis remains poorly understood, largely attributed to disease heterogeneity and dependence on qualitative technologies for research. There is an unmet clinical need for quantitative, biomarker-based methods for improved endometriosis diagnosis, prognosis, and treatment. We describe the biomarker analysi...

Overactive bladder (OAB) is a urological symptom complex defined by urinary urgency. It can have a devastating impact on an individuals quality of life and leads to significant financial cost. Insulin-like growth factor 1 (IGF-1) is a protein hormone involved in a broad range of processes including cell proliferation and differentiation. IGF-1 is also regulated through alternative splicing. While the primary IGF-1Ea transcript is highly expressed in liver, the alternative IGF-1Ec transcript enco...

BackgroundPlacenta accreta spectrum (PAS) is characterized by abnormal trophoblastic invasion into the uterine myometrium and is a cause of postpartum hemorrhage and maternal death. Protease-activated receptor-1 (PAR-1) promotes various cellular actions, including invasion. Here, we analyzed the expression of PAR-1, platelet antigen, and fibrin in PAS. MethodsWe analyzed 49 PAS cases (placenta accreta vera [accreta vera], 31 cases; placenta increta [increta], 8 cases; placenta percreta [percret...

The human yolk sac (hYS) is essential for embryo nutrient biosynthesis/transport and development. However, there lacks a comprehensive study of hYS nutrient-gene interactions. Here we performed a secondary analysis of hYS transcript profiles (n=9 samples) to identify nutrient-sensitive hYS genes and regulatory networks, including those that associate with adverse perinatal phenotypes with embryonic origins. Overall, 14.8% highly expressed hYS genes are nutrient-sensitive; the most common nutrien...

Preeclampsia is a "placenta-derived disorder" characterized disease, which remains a major unaddressed public health problem. The differentiation and development of cytotrophoblasts and extravillous trophoblasts are two crucial processes, which are tightly regulated. And any abnormal regulation can lead to the occurrence of pregnancy-related diseases such as preeclampsia. In this article, we performed Spatial transcriptomics on tissues of PE and Normal, and found a large amount of extravillous t...

When a healthy, full-size vagina is absent due to a disorder, various neovagina creation methods are available. Sometimes dilation or stretching of the vagina cavity is sufficient, but generally intestinal or dermal graft tissue is required. However, different inherent tissue properties cause complications. Therefore, when a body part is lost, it should be replaced by a similar material. The use of organ-specific acellular vaginal tissue carries great potential, as the similar architecture and m...

STRUCTURED ABSTRACTO_ST_ABSBackgroundC_ST_ABSPreeclampsia is a severe pregnancy complication that affects about 2-8% of pregnant women globally and is one of the leading causes of maternal and fetal mortality and morbidity. Telomere length change has been associated with aging, environmental stress, and various diseases. Studying the telomere length change in preeclampsia complicated placentas may shed light on the pathophysiology of preeclampsia. ObjectivesIn this study, we aimed to explore if...

BACKGROUNDMetabolic reprogramming in breast cancer is depicted as a crucial change in the tumor microenvironment. Besides the molecular understanding of metabolic heterogeneity, appreciable attentions are drawn to characterize metabolite profiles in tumor tissue and derived biological fluids and tissue materials. Several findings reported on the metabolic alterations of free aromatic amino acids (FAAAs) and other metabolites in biological fluids. Furthermore, there is a significant gap in the de...

In perinatal medicine, intrauterine growth restriction (IUGR) is one of the greatest challenges. The etiology of IUGR is multifactorial, but most cases are thought to arise from placental insufficiency. However, identifying the placental cause of IUGR can be difficult due to numerous confounding factors. Selective IUGR (sIUGR) would be a good model to investigate how impaired placentation affects fetal development, as the growth discordance between monochorionic twins cannot be explained by conf...

BACKGROUNDEndometriosis is a complex and polygenic disease characterized by the growth of endometrial-like tissue outside the uterus. Associated conditions include pelvic pain and infertility among others. Current treatments of endometriosis are not effective in many patients and are prone of side effects, being laparoscopy the main solution for them. However, laparoscopy is an invasive solution that can negatively affect ovarian reserve among others fertility consequences. Therefore, more effec...

In this study, we report first high concentrations of a ketone body, 3-hydroxybutyrate (3HB) in the amniotic fluid in humans. Although 3HB concentrations in the maternal blood are approximately 0.1, those in the amniotic fluid are approximately 0.6 mM. High placental 3HB production is potentially key for producing and maintaining high 3HB levels in the amniotic fluid. The rate-limiting enzyme, mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2), is highly expressed in the cells of t...

Endometriosis is a gynecological disease characterized by the presence of uterine (eutopic) endometrial glands and tissues outside the intra-uterine locations, in ectopic regions such as the pelvic peritoneum, fallopian tubes, or ovaries. Approximately 5-10% of reproductive and 20-50% of infertile women are affected by endometriosis. The pathogenesis of endometriosis involves various factors, including hormonal, environmental, genetic, and immune system components, directly or indirectly alterin...

BackgroundHigh-mobility group AT-hook 2 (HMGA2) expression can be detected in many embryonic and fetal tissues but becomes down-regulated during postnatal life except for many benign and malignant tumors. In the latter case, its expression has been correlated with epithelial-mesenchymal transition and invasive growth. The placenta contributes essentially to proper development of the embryo and the fetus. In a tumor-like manner it shows rapid invasive growth during the first weeks of gestation. T...

To perform a bibliometric visualization in lipidomics-related research with two decades. The primary data was retrieved from the Web of Science, three sotwares (VOSviewer, CiteSpace, and R) provided an overview of this field. The countries, institutions, authors, key terms, and keywords were tracked and corresponding mapping was generated. From January 1st in 2001 to March 21th in 2022, 45,325 authors from 234 organizations in 101 countries published 7,338 publications in 382 journals were found...