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    Bernard-Soulier Syndrome from the Perspective of the Obstetrician: A Case Report with a Review of the Literature
    (Georg Thieme Verlag Kg, 2023) Saridogan, Erdinc; Onat, Taylan; Duz, Senem Arda; Tuncay, Gorkem; Abdurahmanova, Nuray; Orujova, Lumayat; Karaer, Abdullah
    Objective Bernard-Soulier syndrome (BSS) is one of the rare inherited platelet disorders that is characterized by macrothrombocytopenia and adhesion abnormality due to the absence or malfunctioning of the membrane GPIb-IX-V complex. There is no high-quality evidence on obstetric management of BSS owing to its rarity. Here we report an uncomplicated delivery of an adolescent with BSS and review the literature on the topic of BSS and pregnancy.Methods PUBMED, EMBASE, COCHRANE, and Google Scholar databases were searched up to April 2022 without language and year restriction using the terms Bernard Soulier and Pregnancy . The primary objectives were to evaluate maternal and fetal outcomes. The secondary objectives were to analyze pregnancy complications, gestational age at delivery, mode of delivery, administered prophylaxis, treatment approaches, duration of postpartum hospitalization, and the postpartum requirement of blood and blood product.Results The patient was a 19-year-old and 39-week pregnant woman who was diagnosed with BSS at the age of 10 by flow cytometry and genetic analysis. Single donor platelet transfusions and oral tranexamic acid were administered as prophylaxis at the peripartum period. She was delivered by cesarean section due to failure of labor. The postpartum period was uneventful for both mother and neonate. In the literature review, postpartum hemorrhage (PPH) was found in 52.9% (27/51) of deliveries. Late PPH occurred more frequently than early PPH (35.3 and 31.4%, respectively). 49% (25/51) of pregnancies had severe thrombocytopenia, and antepartum hemorrhage was observed in 11.8% (6/51) of those. The platelet count was in close relation to antenatal complications. 64.7% (33/51) of the patients were delivered via cesarean section. PPH and late PPH were found to be more common in those who delivered vaginally compared to those who delivered by caesarean section. It was observed that PPH was less common in women who were given prophylaxis in the peripartum period.Conclusion BSS is an inherited macro-thrombocytopathy that may cause adverse maternal and neonatal outcomes. The optimal mode and timing of delivery remain unclear. A multidisciplinary approach with prophylaxis at the peripartum period should be applied.
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    Metabolomic analysis of endometrial cancer by high-resolution magic angle spinning NMR spectroscopy
    (Springer Heidelberg, 2022) Duz, Senem Arda; Mumcu, Akin; Dogan, Berat; Yilmaz, Ercan; Coskun, Ebru Inci; Saridogan, Erdinc; Tuncay, Gorkem
    Purpose To analyze endometrial metabolite profiles between patients with endometrial cancer and controls. Methods Seventeen (17) women with endometrium cancer and 18 controls were enrolled in this study. H-1 HR-MAS (High Resolution-Magic Angle Spinning) NMR (Nuclear Magnetic Resonance) spectroscopy data obtained from endometrial tissue samples of patients with endometrial cancer and control group were analyzed with bioinformatics methods. Results Principal component analysis (PCA) and the partial least squares discriminant analysis (PLS-DA) score plots obtained with the multivariate statistical analysis of pre-processed spectral data shows a separation between the samples from patients with endometrial cancer and controls. Analysis results suggest that the levels of lactate, glucose, o-phosphoethanolamine, choline, glycerophosphocholine, phosphocholine, leucine, isoleucine, valine, glutamate, glutamine, n-acetyltyrosine, methionine, taurine, alanine, aspartate and phenylalanine are increased in patients with endometrial cancer compared to the controls. Conclusion The metabolomics signature of patients with endometrial cancer is different from that of benign endometrial tissue.
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    Metabolomics approach using HR-MAS NMR spectroscopy for the assessment of metabolic profiles of uterine fibroids
    (Academic Press Inc Elsevier Science, 2025) Duz, Senem Arda; Mumcu, Akin; Dogan, Berat; Saridogan, Erdinc; Tuncay, Gorkem; Onat, Taylan; Karaer, Abdullah
    The aim of this study is to determine dysregulated metabolites and metabolic pathways in uterine fibroids and in the myometrial tissue from which uterine fibroids are derived. Fifteen (15) patients underwent hysterectomy because of uterine fibroids and 14 controls were included in this study. 1H HR-MAS NMR spectroscopy data were obtained from uterine fibroid tissue, the adjacent healthy myometrial tissue from cases, and myometrial tissue from controls. PCA and PLS-DA score plots from multivariate statistical analysis of pre-processed spectral data demonstrated a distinction between cases and control groups. The levels of lactate, alanine, glutamate, glutamine, methionine, acetone, isocitrate, choline, glycerophosphocholine, phosphocholine, o-phosphoethanol-amine, taurine, myo-inositol, p-methylhistidine, phenylacetate, ascorbate, glucose, and methylhistidine were significantly higher in uterine fibroid tissue compared to the neighboring healthy myometrial tissue. Additionally, when adjacent healthy myometrial tissue was compared to control myometrial tissue, significantly lower levels of valine, leucine, isoleucine, ethanol, arginine, N-acetyl tyrosine, acetone, p-methylhistidine, glucose, phenylacetate, myo-inositol, and alpha-glucose were observed. The study provides a foundational framework by revealing the metabolomic heterogeneity of uterine fibroids. Strategies should be developed to target the metabolic alterations that contribute to the growth of these common tumors.
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    Multi-omics analysis of placental metabolomics and transcriptomics datasets reveals comprehensive insights into the pathophysiology of preeclampsia
    (Elsevier, 2025) Mumcu, Akin; Saridogan, Erdinc; Duz, Senem Arda; Tuncay, Gorkem; Erdogan, Ali; Karaer, Kadri; Onat, Taylan
    Preeclampsia, a life-threatening pregnancy complication, remains a major global health concern. Understanding the complex molecular mechanisms underlying this disorder is crucial for improving both diagnostics and therapeutic strategies. In this study, a multi-omics approach based on NMR metabolomics and RNA-seq transcriptomics analyses was conducted to analyze placental tissue samples obtained from patients with preeclampsia and healthy controls. Metabolomics data analysis results indicated alterations in several metabolite levels including lactate, myo-inositol, glutamate, glutamine, valine, leucine, isoleucine, creatinine, alanine, taurine, choline, phosphocholine, glycerophosphocholine, ethanolamine, and dihydroxyacetone. These alterations cause significant disruptions in the Krebs cycle, energy, lipid, and amino acid metabolisms. Concurrently, transcriptomics data analysis identified 10 upregulated and 37 downregulated genes (|log2FC= > 1 and padj < 0.05) in preeclampsia patients. Identified genes were linked to critical roles such as vasoconstriction, angiogenesis, inflammation, hormonal balance, oxidative stress, and collagen integrity. Multi-omics data analysis revealed the association of certain metabolites with several other genes. A gene interaction network formed by these genes resulted in a lower protein-protein interaction enrichment value (p-value < 1e-16) compared to the network formed with the differentially expressed genes (p-value = 0.0183) which suggests the importance of considering multiple omics levels for a comprehensive understanding of the disease.