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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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    Gebelerde Algılanan Eş Desteği ve Gebelik Semptomları
    (2023) Güleroğlu, Funda Tosun; Onat, Taylan
    Bu çalışma gebelerin algıladığı eş desteğini ve bu desteğin gebelik semptomlarına olan etkisini belirlemek amacıyla yürütülmüştür. Tanımlayıcı ve ilişkisel tipteki çalışmanın evrenini 1 Temmuz- 31 Aralık 2021 tarihleri arasında İç Anadolu’da bir üniversite hastanesinin kadın doğum polikliniklerine gelen gebeler oluşturmuştur. Çalışma 156 gebe ile tamamlanmıştır. Çalışmanın verileri Kişisel Bilgi Formu, Gebelikte Eş Desteği Algısı Ölçeği (GEDAÖ) ve Gebelik Semptom Envanteri (GSE) kullanılarak elde edilmiştir. Gebelerin yaş ortalamasının 26.9±5,2 ve %63.5’inin 21-30 yaş aralığında olduğu belirlenmiştir. Gebelerin eş desteği algısı ölçeği toplam puan ortalamasının 61.5±14.9 ve gebelik semptom ölçeği puan ortalamasının 45.04±17.6 olduğu tespit edilmiştir. Gebelerin algılanan eş desteği alt boyut ve toplam puan ortalamaları ile gebelik semptomları puan ortalamaları arasındaki ilişkinin istatistiksel olarak anlamlı olmadığı saptanmıştır (p>0.05). Gebelerin algıladığı eş desteği ile deneyimledikleri gebelik semptomları arasında ilişki yoktur. Yaş, gebenin ve eşin öğrenim düzeyi, evlenme şekli, süresi ve gebelik sayısı gebelerin algıladığı eş desteğini etkilemektedir. Doğuma hazırlık eğitimlerinde özellikle eş desteği olmak üzere sosyal desteğin önemi konusuna yer verilmesi önerilebilir.
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    INSR gene Exome Sequencing Results in patients with PCOS
    (2023) Arıkan, Yunus; Onat, Taylan
    Objective: Polycystic ovary syndrome (PCOS) is an endocrinopathy that includes findings such as insulin resistance, infertility and hyperandrogenism. Its genetic background continues to be investigated with variations and mutations in various genes. Material and Methods: In current study, we evaluated the clinical and laboratory findings of 16 prospective PCOS patients according to AE-PCOS criteria and analyzed the INSR gene by exome sequencing method. Results: We revealed 4 novel variations, 3 of which we named ourselves. These are NM_000208.4:c.974+82_974+83insT, NM_000208.4:c.974+107_974+108insC, NM_000208.4:c.653-79A>G and rs1449625253 and are all intronic variations. In this study, using the 27 informative SNPs that we found in the INSR gene, we detected two different triple tag SNP blocks showing high linkage disequilibrium score (r2 = 1) for the first time. These blocks are rs2963-rs2245649-rs2245655 and rs6413502-rs41509747-rs73498780. We also revealed the MAF values of variations such as rs7508516, which is the most common, and rs2059807, which we observed in our patients and may be responsible for PCOS. Conclusion: The study is the first study in Turkiye in which the INSR genes of PCOS patients were investigated by exome sequencing method. The study, in which the tag SNPs of the INSR gene were revealed for the first time and we found new candidate variations, provides important data to the literature.