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.

Metabolomics analysis of placental tissue obtained from patients with fetal growth restriction.

AIM: The aim of this study was to determine whether there was a difference in placental metabolite profiles between patients with fetal growth restriction (FGR) and healthy controls. METHODS: The study included 10 patients with FGR diagnosis with 14 healthy controls with both matched maternal age and body mass index. 1 H HR-MAS NMR spectroscopy data obtained from placental tissue samples of patients with FGR and healthy control group were analyzed with bioinformatics methods. The obtained results of metabolite levels were further validated with the internal standard (IS) quantification method. RESULTS: Principal component analysis (PCA) and the partial least squares discriminant analysis (PLS-DA) score plots obtained with the multivariate statistical analysis of preprocessed spectral data shows a separation between the samples from patients with FGR and healthy controls. Bioinformatics analysis results suggest that the placental levels of lactate, glutamine, glycerophosphocholine, phosphocholine, taurine, and myoinositol are increased in patients with FGR compared to the healthy controls. CONCLUSIONS: Placental metabolic dysfunctions are a common occurrence in FGR.

The Definition of the Upper Limit of Adolescent Age in Terms of Adverse Pregnancy Outcomes.

Introduction This study aims to reveal the maternal and neonatal adverse outcomes, associated with adolescent pregnancies in our country, to investigate whether the 20 to 21-year-age group, which is very close to the adolescent age, is similar to the adolescent age group in terms of adverse outcomes, and so to contribute to the definition of the upper limit in adolescent age for pregnancy. Methods Four hundred and twenty-four pregnant women under the 20-year-age, 450 pregnant women at 20 to 21-year-age, and 450 pregnant women between 22 and 25-year-age were included in this retrospective study. Maternal demographic features, clinical characteristics, obstetric complications, maternal outcomes, neonatal complications, and neonatal outcomes were collected from the medical records of the participants. Results There were statistically significant differences between under 20-year-age and 22 to 25-year-age, regarding gestational age at birth, maternal duration of hospitalization after delivery, mode of delivery, preterm delivery rate, very low birth weight, and low birth weight, first minute Apgar score, the presence of transient tachypnea of the newborn. Conclusion The upper age limit for the adolescent age, which is considered risky in terms of maternal and neonatal adverse outcomes, was found to be compatible with the upper age limit, which is 19 years, defined by World Health Organization.

Nuclear transcription factor-kappa beta-dependent ultrastructural alterations within the placenta and systemic inflammatory activation in pregnant patients with hemolysis, elevated liver functions and low thrombocyte count (HELLP) syndrome: a case-control study.

OBJECTIVE: Preeclampsia appears to be associated with a higher extent of inflammation than in uncomplicated pregnancies. We aimed to test whether this was the case in patients with hemolysis, elevated liver functions and low platelet count (HELLP) syndrome and to clarify the contribution of placental and systemic inflammatory variables in the development of this syndrome. MATERIALS AND METHODS: Thirty healthy pregnant women (control group) and 20 patients with HELLP syndrome (study group) were included in the study. Placental inflammatory activity was evaluated by quantifying immunohistochemically the levels of p65/RelA expression of nuclear transcription factor-kappa beta (NF-kB) in paraffin-embedded tissue samples. In addition, ultrastructural changes in placental morphology in HELLP patients were evaluated by transmission electron microscopy (TEM). The serum concentrations of myeloperoxidase (MPO) and C-reactive protein (CRP) were also measured and compared. RESULTS: p65/RelA immunoexpression and serum MPO and CRP levels were significantly higher in patients with HELLP syndrome (p < 0.05). TEM of placenta in the study group revealed severely vacuolized syncytiotrophoblasts, irregular basal lamina and damaged capillary endothelium when compared with the placenta of control subjects. CONCLUSION: Our results suggest that over-expression of placental NF-kB is correlated with elevation of serum inflammatory markers and placental ultrastructural changes, which may point to an important role of local and systemic inflammatory activation in the pathogenesis of HELLP syndrome.