Bernard-Soulier Syndrome from the Perspective of the Obstetrician: A Case Report with a Review of the Literature.

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.

Metabolomic analysis of endometrial cancer by high-resolution magic angle spinning NMR spectroscopy.

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. 1H 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.

Successful pregnancy and delivery following surgical treatment of postmyomectomy uterocutaneous fistula.

Uterocutaneous fistula is an extremely rare clinical condition that may be caused by postoperative or postpartum complications, such as infection or inflammation. Although fibroids and myomectomy are common clinical entities among women of reproductive age, there are very few postmyomectomy uterocutaneous fistula cases in the literature. This article presents the first reported case of a succesful pregnancy and live birth following treatment of a postmyomectomy uterocutaneous fistula. After laparoscopic adhesiolysis, a minilaparotomy was performed to excise the fistula tract completely from both the abdominal wall and the uterus. The uterine wall defect was repaired in multiple layers. The patient had a good recovery after surgery, and the uterocutaneous fistula resolved completely. Due to obliteration of both tubal ostia, the patient was referred for in vitro fertilisation treatment. She conceived after the third frozen embryo transfer procedure and gave birth to a 4.4 kg baby at full term by caesarean section.

The feasibility of the platelet count and mean platelet volume as markers of endometriosis and adenomyosis: A case control study.

INTRODUCTION: The aim of the study is to investigate the role of platelet count (PC) and mean platelet volume (MPV) in determining adenomyosis and endometriosis. MATERIAL AND METHODS: This was a retrospective case control study that included adenomyosis, endometriosis and control groups. The adenomyosis group included 84 women diagnosed between January 2013 and January 2015 based on hysterectomy specimen. The endometriosis group included 102 patients underwent diagnostic laparoscopy and confirmed by histopathologic examination. Lastly, the control group included 88 women had no medical problem and underwent tubal ligation. RESULTS: MPV (fl) was significantly lower in adenomyosis group (8.5) compared to endometriosis (9, p<0.05) and control groups (9, p<0.01). Modified platelet activity (MPV/PC) was significantly lower in adenomyosis group compared to control group (p<0.01). Bivariate logistic regression model was used to assess the odds ratio of risk factors and serum markers related to endometriosis and adenomyosis. Variables showing significant differences based on post-hoc Bonferroni test were included in the logistic regression model for comparison of each disease with the control group. MPV was not found to be a risk factor both for presence of endometriosis and adenomyosis after adjusting for demographic and clinical characteristics. DISCUSSION: Our study suggested that PC and MPV were not useful diagnostic markers for endometriosis or adenomyosis. Further research on how platelet indices and other inflammatory markers are related to inflammation might help better understand their potential as markers for these diseases.

Management of fibroids prior to in vitro fertilization/intracytoplasmic sperm injection: A pragmatic approach

Fibroids are relatively common in women undergoing in vitro fertilization (IVF) treatment due to their high prevalence in women. It is generally accepted that submucosal fibroids are deleterious to IVF outcomes and their removal is beneficial. Evidence from relatively low quality studies on the impact of intramural fibroids on IVF outcome is also suggestive of a detrimental impact. The majority of published studies included women with relatively small intramural fibroids and women with cavity-distorting fibroids were usually excluded, hence it is quite likely that the detected impact in the systematic reviews is an underestimation. Evidence of benefit is scarce for the removal of noncavity-distorting intramural fibroids. It is quite likely that numbers needed to treat for this purpose would be very high for small fibroids but lower for larger fibroids. This would need to be taken into account when decisions are made on myomectomy and potential benefits should be weighed against the associated morbidity, cost, and delay in fertility treatment. Whilst there is a need to perform prospective randomised studies in this field, a pragmatic approach that takes prognostic factors into account to estimate the magnitude of the possible impact of the fibroid(s) and potential benefit of removal is likely to lead to better reproductive outcomes.

An Unusual Origin of Fetal Lymphangioma Filling Right Axilla.

Fetal lymphangioma is a hamartomatous congenital anomaly of the lymphatic system, which is embracing the fetal skin (sometimes mucous membranes) and the subcutaneous tissue. The general consensus is that it occurs as a result of failure in lymphatic drainage. A 36-year-old pregnant woman was referred to our perinatology clinic at 22 weeks' gestation, because of a fetal right-sided axillary mass revealed by ultrasonography. The mass measuring 5x7x7cm in three dimensions had a multilocular structure without colour Doppler flow and well-circumscribed borders. Amniocentesis revealed a normal constitutional karyotyping. Lymphangioma was considered as prediagnosis. A healthy female baby weighing 3470 grams was delivered at term. Neonatal examination and the postnatal MRI confirmed the diagnosis. The baby is still on follow-up with the medical treatment of Sirolimus an anti-proliferative drug, and the mass got smaller significantly in 8 months after delivery.