Expanding the phenotype of the truncating eIF2 pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrom

We describe two brothers with a truncating variant in EIF2S3 and expand the phenotypic description of MEHMO. Our cases had the previously described facial dysmorphic features, severe microcephaly, hypoglycaemia, hypothyreosis, epilepsy, hypertonus, obesity, micropenis and death due to multiorgan failure. Additionally, we describe hypothermia and reduced umbilical blood flow.

Altered Steroidome in Women with Gestational Diabetes Mellitus: Focus on Neuroactive and Immunomodulatory Steroids from the 24th Week of Pregnancy to Labor

Gestational diabetes mellitus (GDM) is a complication in pregnancy, but studies focused on the steroidome in patients with GDM are not available in the public domain. This article evaluates the steroidome in GDM+ and GDM− women and its changes from 24 weeks (± of gestation) to labor. The study included GDM+ (n = 44) and GDM− women (n = 33), in weeks 24–28, 30–36 of gestation and at labor and mixed umbilical blood after delivery. Steroidomic data (101 steroids quantified by GC-MS/MS) support the concept that the increasing diabetogenic effects with the approaching term are associated with mounting progesterone levels. The GDM+ group showed lower levels of testosterone (due to reduced AKR1C3 activity), estradiol (due to a shift from the HSD17B1 towards HSD17B2 activity), 7-oxygenated androgens (competing with cortisone for HSD11B1 and shifting the balance from diabetogenic cortisol towards the inactive cortisone), reduced activities of SRD5As, and CYP17A1 in the hydroxylase but higher CYP17A1 activity in the lyase step. With the approaching term, the authors found rising activities of CYP3A7, AKR1C1, CYP17A1 in its hydroxylase step, but a decline in its lyase step, rising conjugation of neuroinhibitory and pregnancy-stabilizing steroids and weakening AKR1D1 activity.

Umbilical artery thrombosis diagnosed at different gestational ages and fetal outcomes: a case series

Background Umbilical artery thrombosis is a rare complication of pregnancy strongly associated with poor fetal and perinatal outcomes, such as intrauterine asphyxia, fetal growth restriction, and stillbirth. Its pathogenesis remains unclear, and there is the added challenge of selecting an appropriate delivery time to achieve excellent neonatal outcomes. Methods Our Hospital is a critical maternal rescue center with approximately 7000 births annually. We present a series of 8 cases of umbilical artery thrombosis diagnosed at the hospital between Apr 1, 2018, and Jan 31, 2020. We identified the cases through a keyword search of the maternity and pathology information management systems. Results Three patients were diagnosed with a transabdominal ultrasound scan and hypoxia on fetal heart monitoring. All three patients had emergency cesarean section delivery. Four patients were observed closely for 5 to 13 weeks from initial detection by an ultrasound scan to delivery. Only one patient was diagnosed after vaginal delivery by Hematoxylin-eosin staining of umbilical cord sections. Seven patients had deliveries by cesarean section, and one patient had a vaginal delivery. All infants were born alive. Conclusions Umbilical artery thrombosis is a challenging and rare condition that can occur at different gestational ages, especially when diagnosed in the third trimester and accompanied by fetal growth restriction. Consequently, these patients require close monitoring of umbilical blood flow and fetal growth and intervention at the appropriate time to achieve an optimal outcome.

Successful umbilicus salvage following concurrent infraumbilical single-port myomectomy and free transverse rectus abdominis myocutaneous flap elevation: a case report

Performing a concurrent gynecologic operation and mastectomy with immediate breast reconstruction using a free transverse rectus abdominis myocutaneous flap may increase the risk of complications such as umbilical necrosis due to vascular compromise. Imaging studies such as preoperative computed tomography angiography and intraoperative indocyanine green testing can provide information regarding the umbilical blood supply, facilitating decision-making for pedicle selection. Therefore, in situations where a coordinated operation is unavoidable, a thorough preoperative and intraoperative evaluation of the umbilical blood supply is recommended to avoid complications.

In water or on land? Evaluation of perinatal and neonatal outcomes of water births in low-risk women

Objective: Evaluate perinatal and neonatal outcomes comparing a water birth to regular childbirth in low-risk women. File and methods: Retrospective analysis of a set of childbirths that took place over a given period of time in the hospital and health center of Havířov. We compared a set of low-risk women that had given a water birth to a selected control group of low-risk women that had given regular childbirth. We evaluated statistical comparability, as well as perinatal and neonatal outcomes in both sets. Results: From 1. 1. 2020 to 28. 2. 2021, 1,083 women gave birth in the delivery department of Havířov hospital; from this set 122 were water births (11.3%). In our study, we only included 101 water deliveries (we designed our study to monitor low-risk births in order to be able to statistically correlate our fi ndings; 21 water deliveries were excluded from our study due to perinatal risk factors – gestational diabetes and induced deliveries). We selected 60 low-risk women for our control group. Both sets of women were compared and we ruled out any statistically signifi cant diff erences in age, education, body mass index, number of births given, gestation week at time of labor, number of smokers, premature rupture of membranes, women with previous history of one cesarean section, becoming pregnant by in vitro fertilization, presence of streptokoka skupiny B, and fetal weight. Water birth does not aff ect the Apgar score, neonatal adaptation to extra-uterine life, umbilical blood pH decrease, complications of infection, need of intensive care, and neonatal mortality. In the water birth set, we found increased occurrence of non-infectious conjunctivitis, treatable by regular eye drops without antibio tics. We have not observed the eff ect of water birth on duration of the fi rst and second stage of labor, total amount of uterotonics used, blood loss determined by the obstetrician, and uterine hypotonia. In the water birth group, we observed a prolonged third stage of delivery, lesser need for pharmacological stimulation (augmentation) of labor, notably lower use of analgesics, lower occurrence of birth injuries, shorter in-patient time, and more frequent bonding. Conclusions: We discovered that water birth does not increase the risk for mother and neonate in low-risk women. Despite initial concerns, our outcomes and mother satisfaction have clearly shown that water births are not only a temporary whim, but probably a new integral part of our obstetric care. Key words: water birth – analgesia with water – childbirth – perinatal and neonatal outcomes

PSVI-3 Effect of feeding resistant starch on sow and piglet farrowing performance and blood parameters

Hyperprolific sows can have a long duration of farrowing, negatively impacting piglet survival and vitality. This study’s objective was to assess the effect of a diet containing 6.6% resistant starch (RS) on sow and piglet farrowing performance. We hypothesized that a diet containing RS would decrease sow farrowing duration and improve piglet survival. Forty-two sows were balanced for parity and randomly assigned to 1 of 2 treatments: standard lactation diet (n = 21) or diet containing RS (n = 21). Sows were fed their respective diets from approximately 7d prefarrowing throughout lactation. Sow blood was drawn at three time points on d106±1.0 and d113±1.0 of gestation (pre-feeding, 2 and 6 h post-feeding) and during farrowing to measure blood glucose. Piglet umbilical blood (~3/litter; beginning, middle, end of birth order) was collected at birth and analyzed for glucose, lactate, pH, PCO2, PO2, TCO2, HCO3, BE, and sO2. Piglets were visually assessed at birth to score meconium staining. Data collected included farrowing duration, piglet birthing intervals, number of stillborn piglets/litter, sow and piglet weights, piglet mortality, and sow feed and water intake. Average litter sizes post-crossfoster for control and RS were similar, 12.1±0.4 and 11.6±0.4 piglets, respectively. Litter weight gain was similar between control and RS (44.97 vs. 47.54 kg, P = 0.33), respectively. Feeding resistant starch had no effect on number of stillborn piglets or pre-weaning survival (P > 0.75). Farrowing duration (178.9±17.6 min vs 165.2±18.0 min, P = 0.59) and piglet birth intervals (16.57±1.7 min and 14.89±1.8 min, P = 0.51) did not differ between control and RS, respectively. There was difference in sow blood glucose between diets (P = 0.02), day of sample (P < 0.0001), time point (P < 0.0001), and a day by time point interaction (P < 0.0001). Feeding RS to sows prefarrowing can modify sow blood glucose, but did not result in reduced farrowing duration or improved piglet survival.

248 Maternal Nutrient Restriction During Mid-gestation Decreases Uteroplacental Release and Fetal Uptake of Essential Amino Acids in Sheep

To examine the effects of maternal nutrient restriction on net uteroplacental flux during mid-gestation, 14 singleton ewes (48.2 ± 4.0 kg body weight) were fed 100% (control; CON; n = 7) or 60% of nutrient requirements (restricted; RES; n = 7) from day 50–90 (mid-gestation). On day 90, uteroplacental blood flow was measured via Doppler ultrasonography and blood samples were collected from the femoral artery, uterine vein, umbilical artery, and umbilical vein. Blood vessel glucose and amino acids (AA) concentrations were measured and arterial-venous (uterine, AV; fetal, va) differences and net fluxes were calculated. Data were analyzed using the GLM procedure of SAS for effects of treatment. Nutrient restriction during mid-gestation did not influence (P ≥ 0.17) uterine or umbilical blood flows. Uterine AV and fetal va differences of total, essential, and nonessential AA were not influenced (P > 0.10) by nutrient restriction. Nutrient restriction decreased (P ≤ 0.05) uterine and uteroplacental release of total AA and tended to decrease (P = 0.07) total AA uptake by the fetus. Uteroplacental release and fetal uptake of essential AA were decreased (P = 0.03) with RES by 53.4% and 45%, respectively. Uterine and uteroplacental release of nonessential AA were decreased (P = 0.03) with RES but, fetal uptake was not affected (P = 0.14). Nutrient restriction decreased (P ≤ 0.04) fetal uptake of methionine, phenylalanine, threonine, and valine and tended to decrease (P ≤ 0.10) fetal uptake of isoleucine, leucine, and tryptophan. Umbilical artery glucose concentrations were 32% lesser (P = 0.01) with RES and RES tended to increase (P = 0.08) fetal glucose uptake. Nutrient restriction during mid-gestation altered uteroplacental and fetal flux of AA in the current study. The results may indicate that fetal metabolism shifts to adapt to reduced AA supply which results in greater glucose utilization.