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Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalence and inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavors to assess the prevalence of mosaicism and its characteristics within the scope of our preimplantation genetic testing-A (PGT-A) services in Indonesia. Specifically focusing on our center's experience since 2020, this study aims to elucidate mosaic rates among embryos in our care. Materials and Methods: In a retrospective approach, we collected secondary data sourced from our PGT-A outcomes dating back to 2020. A total of 196 embryos underwent analysis, their characteristics were documented and presented descriptively. Notably, the incidence of specific chromosome abnormalities was outlined. We assess a comparative analysis to investigate the relationship between mosaicism and its corresponding clinical characteristics. Results: In the analysis of 196 embryos, 106 (54.1%) displayed chromosomal anomalies spanning from low-level mosaicism to whole chromosome aneuploidy. Low mosaicism was observed in 25 (12.8%) of the embryos, while high mosaicism was identified in 8 (4.1%) embryos. Notably, low-level mosaicism predominated in chromosome 9 (n=10, 5.1%), whereas abnormality prevalence was highest in chromosome 21 (n=20, 10.2%). Statistical analysis revealed no significant disparity in mean maternal age among embryos with low-level mosaicism, high mosaicism, and normal chromosomes (33.88 vs. 35 vs. 33.26 years old, respectively). However, a statistically significant difference in mean maternal age (35.84 vs. 33.26 years) was observed between embryos with aneuploidy (monosomy or trisomy) and those with normal chromosomes. Furthermore, a significant difference in high mosaicism rates was detected in patients with unexplained infertility (P<0.05). Conclusion: In contrast to the study conducted elsewhere, our center had a higher mosaicism rate. Chromosomes 9, 8, and 6 were the most frequently affected. There was a significant difference in the high mosaicism rate for PGT-Arelated unexplained infertility causes. [ABSTRACT FROM AUTHOR]

Aims and background: Currently, there is no consensus on the standardization of clinical phenotype data for endometriosis patients. The WERF-Endometriosis Phenome and Biobanking Harmonization Project initiated the development of standardization methods for collecting research samples of surgical phenotypes and clinical/biological data related to endometriosis research worldwide. Therefore, translation of the WERF-EPHect Clinical Questionnaire (Standard) (WERF EPQ-S) into Bahasa Indonesia and the validation of this questionnaire is required. To create a standard for taking clinical phenotype data for endometriosis patients by translating and validating WERF EPQ-S content. Materials and Methods: This research was conducted using the transcultural adaptation method. This validation test WERF EPQ-S questionnaire was carried out through a process of forward-backward translation, harmonization by experts, cognitive debriefing to questionnaire targets, and proofreading and finalization by experts. Results: Translation and validation of the Indonesian version of the WERF EPQ-S questionnaire had 10 stages. There are cultural differences from the country of origin of the questionnaire, including medicines available, medical terms that are common in the country of origin but unfamiliar in Indonesia, and the presentation of racial tribes that do not describe variants of Indonesian ethnic tribes. The duration of finishing the questionnaire population was 79.3 minutes, and out of 116 questions, there were 21 that required to be guided. Conclusion: The WERF EPQ-S Indonesian version was obtained with contents according to users' needs. Such a transcultural adaptation method is needed for this tool for the population. The WERF EPQ-S version in the Indonesian language is a valid questionnaire and is ready to be applied to endometriosis patients in Indonesia. Clinical significance: The translation and validation of the WERF-EPHect Clinical Questionnaire into Bahasa Indonesia represent a crucial step toward establishing a standardized and culturally relevant tool for collecting clinical phenotype data from endometriosis patients in Indonesia. [ABSTRACT FROM AUTHOR]

Objectives: The purpose of this study was to define the underlying biological mechanisms of polycystic ovarian syndrome (PCOS) utilizing the protein-protein interaction networks (PPINs) that were constructed based on the putative disease-causing genes for PCOS. Design: No animals were used in this research because this is an in silico study that mainly uses software and online analysis tools. Participants/Materials, Settings: Gene datasets related to PCOS were obtained from Genecards. Methods: The PPINs of PCOS were created using the String Database after genes related to PCOS were obtained from Genecards. After that, we performed an analysis of the hub-gene clusters extracted from the PPIN using the ShinyGO algorithm. In the final step of this research project, functional enrichment analysis was used to investigate the primary biological activities and signaling pathways that were associated with the hub clusters. Results: The Genecards database provided the source for the identification of a total of 1,072 potential genes related to PCOS. The PPIN that was generated by using the genes that we collected above contained a total of 82 genes and three different types of cluster interaction interactions. In addition, after conducting research on the PPIN with the shinyGO plug-in, 19 of the most important gene clusters were discovered. The primary biological functions that were enriched in the key clusters that were developed were ovarian steroidogenesis, the breast cancer pathway, regulation of lipid and glucose metabolism by the AMPK pathway, and ovarian steroidogenesis. The integrated analysis that was performed in the current study demonstrated that these hub clusters and their connected genes are closely associated with the pathogenesis of PCOS. Limitations: Several of the significant genes that were identified in this study, such as ACVR1, SMAD5, BMP6, SMAD3, SMAD4, and anti-mullerian hormone. It is necessary to do additional research using large samples, several centers, and multiple ethnicities in order to verify these findings. Conclusions: The integrated analysis that was performed in the current study demonstrated that these hub clusters and their connected genes are closely associated with the pathogenesis of PCOS. This information may possibly bring unique insights for the treatment of PCOS as well as the investigation of its underlying pathogenic mechanism. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to measure the correlation between miR-183 and gene expression that regulates apoptosis and adhesion mechanism that may be linked to the pathogenesis of endometriosis. Patients and Methods: Forty-four subjects, including 22 control subjects, participated in this study. We collected ectopic endometriosis and endometrial samples. For the control, the sample was taken from endometrial tissue through pipelle biopsy. RNA was extracted from all tissues using RNA mini kit, and the expression was assessed using quantitative-real time PCR. Relative mRNA and miRNA expression were presented using the formula of the Livak method. The data were statistically analyzed using GraphPad Prism 8. Results: The expression of Caspase-3, Survivin, Integrin β 1 (ITGB1), matrix metalloproteinase-9 (MMP-9), and tissue inhibitor of matrix metalloproteinase-1 (TIMP-1) (adhesion- and apoptosis-related gene) were calculated using the relative expression method. We found significant differences in Caspase-3, Survivin, ITGB1, MMP-9, and TIMP-1 expression between ectopic endometriosis tissues of women with endometriosis compared to healthy endometrium. MMP-9, Survivin, and ITGB1 was significantly increased in the endometriosis group, while Caspase-3, TIMP-1, and miR-183 were significantly reduced in the endometriosis group. No correlation was found between the expression level of miR-183 and Caspase3, Survivin, ITGB1, and Cadherin in both tissue types. Conclusion: Despite the difference in expression levels of miR-183 and associated adhesion- and apoptosis-related genes, there was no significant association between miR-183 with specific adhesion and apoptosis genes in endometriosis tissue. [ABSTRACT FROM AUTHOR]

Background: In vitro fertilization (IVF) remains a main treatment for infertility cases. Post-injection human chorionic gonadotropin (hCG) level is an essential factor in determining oocyte maturation rate in IVF. This study aimed to determine the relationship between 12 hours post-injection serum hCG level and oocyte maturation rate among IVF participants. Materials and Methods: A cross-sectional study on IVF participants was done at a tertiary hospital in Indonesia from January 2020 to December 2021. Subjects were injected with 250 µg of recombinant-hCG (r-hCG) subcutaneously. Twelve hours post-injection serum hCG levels and oocyte maturation rate data were retrieved and analyzed accordingly. Results: Twenty-eight subjects were recruited into the study. Higher 12 hours post-injection serum hCG was related to oocyte maturation rate (P=0.046). The cut-off point of 12 hours post-injection serum hCG to predict better oocyte maturation rate was 90.15 mIU/mL (sensitivity 68.2%, specificity 83.3%). Oocyte maturation rate may be predicted using body mass index (BMI) and 12 hours post-injection serum hCG. Conclusion: Higher 12 hours post-injection serum hCG was associated with a higher oocyte maturation rate in IVF subjects. [ABSTRACT FROM AUTHOR]

Background: Endometriosis is identified as presence of the endometrium outside the uterine cavity. Retrograde menstruation contributes to the endometrial tissue implantation and the establishment of endometriotic lesions at ectopic sites. It has been suggested that the endometriotic lesions are rich in angiogenic growth factors, while they have an essential role in survival and invasion of these cells. We investigated regulation of microRNA-93 (miR-93) and its involvement with vascular endothelial growth factor A (VEGFA) and matrix metalloproteinase (MMP) 3 expression in women with endometriosis. Materials and Methods: This was a cross-sectional study at Central Surgical Installation, Dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia, between October 2020 and November 2021. Eutopic and ectopic endometrial tissues were collected from 30 subjects with laparoscopically-confirmed endometriotic women. Normal endometrial cells of non-endometriosis women served as controls. Total RNA was isolated from all samples and a quantitative reverse-transcription polymerase chain reaction (qRT-PCR) was used to analyze the expression of miR-93, VEGFA and MMP3. Results: There was no significant difference in the expression levels of VEGFA (2.14 ± 0.50, P=0.719) and MMP3 (2.99 ± 0.42, P=0.583) between endometriotic lesions of endometriosis women and the healthy endometrium. Expression of miR-93 was significantly lower in the eutopic endometrium (16.7 fold) and ectopic endometriotic lesion (20 fold) compared to the normal endometrium (P<0.001). Furthermore, we also observed a significant correlation between miR-93 and VEGFA expression in eutopic endometrium obtained from women with endometriosis (r=-0.544, P=0.029). Expression of the miR-93 was also negatively correlated with MMP3 expression in both eutopic (r=-0.412, P=0.01) and ectopic (r=-0.539, P=0.03) endometrial cells of women with endometriosis. Conclusion: VEGFA and MMP3 expression levels trended to be increased in both eutopic and ectopic endometrial tissues of endometriosis women, while down-regulation of miR-93 might be involved in the alteration of VEGFA and MMP3 in endometriosis. [ABSTRACT FROM AUTHOR]