A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree.

SLC35D1 gene encodes UDP-glucuronic acid/UDP-n-acetylgalactosamine dual transporter protein and transports organic or inorganic molecules across cellular membranes. SLC35D1 gene pathogenic variants causes Schneckenbecken dysplasia (SHNKND) which is a rare lethal autosomal recessive disorder characterized by the snail-like pelvis, flattening of vertebral bodies, short and broad long bones with a dumbbell-like appearance, thoracic hypoplasia. Only six cases with homozygous SLC35D1 variants have been reported to date, and all of these cases were lost in the perinatal period. Here we report different family members with a novel SLC35D1 variant who presented a milder phenotype of SHNKND. The affected patients have common clinical features such as short stature, mild mesomelia, shortening of the lower extremity, genu valgum, and narrow thorax. Exome sequencing of the proband revealed a homozygous missense variant of SLC35D1 gene, c.401 T > C (p. Met134Thr). The affected siblings, their two cousins, and their paternal uncle with a similar phenotype were also homozygous for the variant. This is the first case report of a family with a novel likely pathogenic variant (p. Met134Thr) and mild phenotypic features. It has the largest family with different ages of patients (ages ranged 4-31 years old) reported to date. The present report supports the evidence that the p. Met134Thr variant is responsible for a milder phenotype than previously reported cases with SLC35D1 pathogenic variants.

Relationship between maternal blood ceruloplasmin level, catalase and myeloperoxidase activity and neural tube defects.

OBJECTIVES: The exact pathogenesis of neural tube defects (NTDs) is poorly understood. We aimed at evaluating maternal anti-oxidant capacity (ceruloplasmin level, myeloperoxidase and catalase activity) in pregnancies complicated by NTDs. MATERIAL AND METHODS: Fifty-four mothers with NTD-affected pregnancies and 61 healthy mothers, matched for gestational age, were recruited. Maternal venous blood samples were obtained after detailed fetal ultrasound examination to measure myeloperoxidase, catalase activity and ceruloplasmin levels. The clinical characteristics of all participants were collected. RESULTS: Maternal blood catalase activity was significantly lower in the study group (117.1 ± 64.8 kU/L) as compared to controls (152.2 ± 110.6 kU/L) (p = 0.044). Maternal blood ceruloplasmin levels were also significantly lower in the study group (180.5 ± 37.7 U/L) as compared to controls (197.9 ± 35.9 U/L) (p = 0.012). Myeloperoxidase activity was similar in both groups (112.6 ± 22.2 U/L vs. 113.6 ± 38.1 U/L) (p = 0.869). CONCLUSIONS: In the present study, maternal blood ceruloplasmin level and catalase activity were found to be lower in NTD-affected pregnancies as compared to healthy controls. Thus, it seems safe to conclude that impaired antioxidant capacity may play a role in the development of NTDs during pregnancy, in addition to the genetic, environmental and metabolic factors.

Relationship between erythrocyte catalase and serum adenosine deaminase activities in eclampsia.

OBJECTIVE: To examine the relationship between antioxidant status and T-cell activation in the pathogenesis of eclampsia by measuring the activities of erythrocyte catalase, an enzyme of antioxidant mechanism, and serum adenosine deaminase (ADA), regarded as a marker of T-cell activation. METHODS: A total of 60 patients [20 eclamptic (E) pregnant women, 20 healthy pregnant (HP) women and 20 non-pregnant (NP) women] were included in the study. Maternal venous blood samples were obtained from each patient during weeks 28-37 of gestation, and biochemical analyses of catalase activity in erythrocytes and ADA activity in serum were carried out. RESULTS: Erythrocyte catalase activity was significantly lower and serum ADA activity was significantly higher in the E pregnant women when compared with the HP women and NP women (P <0.001). No significant correlation was observed between erythrocyte catalase activity and serum ADA activity. CONCLUSIONS: Erythrocyte catalase and serum ADA activities may at least in part contribute to the pathogenesis of eclampsia. However, more studies are needed to verify and clarify the relationship between antioxidant status and T-cell activation in eclampsia.

Domestic violence against infertile women in a Turkish setting.

OBJECTIVE: To investigate the prevalence of domestic violence against infertile women in a Turkish setting. METHODS: A total of 122 women with primary infertility attending an obstetrics and gynecology outpatient clinic were interviewed using the Abuse Assessment Screen questionnaire to investigate their experiences of domestic violence. RESULTS: In total, 41 (33.6%) women had experienced domestic violence because of their infertility. Of these women, 32 (78%) had experienced domestic violence for the first time in the relationship with the current partner following diagnosis of female factor infertility. The percentage of nonabused and abused infertile women who were mostly satisfied with their sexual lives was 56.87% and 29.2%, respectively (P<0.05). CONCLUSION: Routine screening for domestic violence in infertility clinics is necessary to give affected women an opportunity to access appropriate health care and support services.

A prospective randomized study comparing misoprostol and oxytocin for premature rupture of membranes at term.

OBJECTIVE: The aim of this randomized trial was to compare the efficacy and safety of vaginal misoprostol and oxytocin for cervical ripening and labor induction in patients with premature rupture of membrane (PROM) at term. METHODS: Ninety-seven women with PROM at term were assigned randomly to receive intravaginal misoprostol or oxytocin. The primary outcome measure was the induction-delivery interval. Secondary outcomes included the number of women who delivered vaginally within 12 hours of the start of the induction in the two groups, the cesarean, hyperstimulation, and failed induction rates, the mode of delivery, and the neonatal outcome. RESULTS: Forty-eight women were assigned to intravaginal misoprostol and 49 to oxytocin administration. The mean interval from induction to delivery was 10.61 +/- 2.45 hours in the misoprostol group and 11.57 +/- 1.91 hours in the oxytocin group (p = 0.063). The rates of vaginal delivery were 83.3% and 87.7% and cesarean delivery were 16.7% and 8.2% in the misoprostol and oxytocin groups, respectively. Neonatal outcomes were not significantly different. Of the cases, 8.3% in the misoprostol group and 8.2% in the oxytocin group revealed uterine contraction abnormalities. CONCLUSION: Our study demonstrates that, intravaginally, misoprostol results in a similar interval from induction of labor to delivery when compared to oxytocin.

Induction of labor with misoprostol in pregnancies with advanced maternal age.

OBJECTIVE: The objective was to compare the efficacy and complications of intravaginal misoprostol application with oxytocin infusion for induction of labor in advanced aged pregnancies with a Bishop score of < 6. STUDY DESIGN: A hundred advanced aged (> or = 35 years) pregnant patients with a Bishop score of < 6 were randomized into two groups. The first group (50 patients) received 50 microg intravaginal misoprostol four times with 4 h intervals and the second group received oxytocin infusion for induction of labor starting from 2 mIU/min and was increased every 30 min with 2 mIU/min increments up to a maximum of 40 mIU/min. The time from induction to delivery, the route of delivery, fetal outcome, and maternal complications were recorded. Statistical analyses were performed using the Mann-Whitney U, Chi-squared and t tests to determine differences between the two groups. A p value < or = 0.05 was considered significant. RESULTS: Misoprostol was superior for induction of labor in advanced aged pregnancies with Bishop score of < 6, as the mean time from induction to delivery was 9.61 +/- 4.12 h and 11.46 +/- 4.86 h in the misoprostol and oxytocin groups respectively, with a significant difference between the groups (p = 0.04). The rate of vaginal delivery was higher in the misoprostol group (84.0%) than in the oxytocin group (80.0%), but the difference did not reach significance (p = 0.60). The rates of placental abruption and postpartum hemorrhage were similar in both groups and no cases of uterine rupture occurred. The 1- and 5-min mean Apgar scores were 6.98 +/- 1.17 to 9.08 +/- 0.99 and 6.88 +/- 1.81 to 9.00 +/- 1.35 in the misoprostol and oxytocin groups respectively, with no significant differences between the groups (p = 0.74, p = 0.83). No cases of asphyxia were present. The rate of admission to the neonatal intensive care unit was similar in both groups. CONCLUSION: Intravaginal misoprostol seems to be an alternative method to oxytocin in the induction of labor in advanced aged pregnant women with low Bishop scores, as it is efficacious, cheap, and easy to use. But large studies are necessary to clarify safety with regard to the rare complications such as uterine rupture.

Peripartum hysterectomy in a teaching hospital in the eastern region of Turkey.

OBJECTIVES: The aim of this study was to find the incidence and clinical implications of peripartum hysterectomy in our hospital at the Eastern region of Anatolia. STUDY DESIGN: We analyzed retrospectively all cases of peripartum hysterectomy performed at YYU Medical Faculty Hospital between January 1995 and April 2003. Emergency peripartum hysterectomy was performed for hemorrhage which cannot be controlled with other conventional treatments within 24h of a delivery. There were 24 cases of emergency peripartum hysterectomy performed. RESULTS: The incidence of emergency peripartum hysterectomy was 5.09 per 1000 deliveries. Half of the hysterectomies followed cesarean section. Eleven patients were referred to our clinics from other hospitals. Uterine atony (45.8%) was the most common indication and placenta accreta (25.0%) was the second most common. Eighteen patients (75%) had subtotal hysterectomy. Bladder injury was seen in three cases. Re-exploration was performed in three cases (12.5%). Seventeen patients stayed in hospital over 7 days. There were four (16.7%) maternal deaths all of whom were referred from other hospitals. CONCLUSION: The mortality and morbidity of performing a peripartum hysterectomy is elevated, especially if performed in critical patients referred from other hospitals.