Maternal placi protein levels in early- and late-onset preeclampsia

Objectives: The objective of this study was to determine the maternal PLAC1 protein levels in early and late onset preec­lampsia. Material and methods: A total of 135 pregnant women were included in the study, of which 55 were at < 34 weeks of gesta­tion and 80 were at ≥ 34 weeks of gestation, between June and November 2014 were recruited in this case control study. Results: Analysis of maternal serum PLAC1 levels did not reveal any significant differences between early onset PE and controls (p = 0.422). However, late onset PE patients exhibited significantly elevated levels of PLAC1, in comparison with healthy controls (p = 0.026). The difference in PLAC1 levels between early onset PE and late onset PE was also significant (p = 0.001). Area under ROC curve of PLAC1 for early and late onset PE was 0.563 and 0.646 with p values of 0.422 and 0.026 respectively. Area under ROC curve of PLAC1 in PE was 0.613 with p value = 0.024. The cutoff value for PLAC1 was 6.19 ng/mL with sensitivity: 56% (95% CI 44.1–67.3) and specificity: 63 %; (95% CI 49.9–75.1) and diagnostic odds ratio: 2.2 (95% CI 1.1–4.4) (p value = 0.037). The cutoff value for PLAC1 was 7.2 ng/mL with sensitivity: 43% (95% CI 31.5–54.6) and specificity: 78% (95% CI 65.5–87.5) and diagnostic odds ratio: 2.69 (95% CI 1.25–5.79) (p value = 0.016) Conclusion: In conclusion, the results of the current study showed that PLAC1 protein levels were significantly elevated in pregnant women with late onset PE in comparison with healthy control group

MYOMECTOMY DURING CESAREAN SECTION AND ADHESION FORMATION AS A LONG-TERM POSTOPERATIVE COMPLICATION

Objectives: We aimed to evaluate the incidence and features of postoperative adhesion related complications occurring following myolysis or myomectomy performed during cesarean section (C/S). Methods: This cross-sectional study consists of four groups of patients who underwent C/S: group I; myolysis is performed by electric cauterization for small superficial fibroids less than 2 cm. (n: 21), group II; myomectomy is performed for pedunculated fibroids (n: 18), group III; myomectomy is performed for intramural/subserous fibroids less than 5 cm. (n: 23), group IV; control group (n: 19) who did not go through myomectomy. Repeat C/S is performed to study subjects within 1-5 years. All cases are evaluated in terms of mild to moderate adhesions between omentum and uterus, mild to moderate adnexial area adhesions, mild to moderate incision area adhesions and surgical difficulty due to severe adhesions. Results: The incidence of adhesions of omentum and uterus (p= 0.278), mild to moderate adnexial area adhesions (p= 0.831), mild to moderate incision area adhesions (p= 0.804) were similar between the intervention groups (group I, II, and III) and the controls (group IV). Conclusion: Cesarean myomectomy is a safe procedure and can be performed without significant postoperative adhesion formation.Cel pracy: Celem naszego badania była ocena częstości występowania i charakter zrostów pooperacyjnych po zabiegu miolizy lub miomektomii w trakcie cięcia cesarskiego. Metoda: Do badania włączono cztery grupy pacjentek, które miały wykonane cięcie cesarskie (C/S) oraz miolizę powierzchniowego, mniejszego niż 2cm mięśniaka metodą elektrokauteryzacji – grupa I (n:21), usunięcie mięśniaka uszypułowanego – grupa II (n:18), miomektomię mięśniaka wewnątrzściennego/podsurowicówkowego, mniejszego niż 5 cm – grupa III (n:23), nie miały wykonanej miomektomii – grupa IV kontrolna (n:19). Ponowne cięcie cesarskie wykonano u badanych pacjentek w ciągu 1-5 lat. Wszystkie pacjentki oceniono pod kątem małych do średnich zrostów pomiędzy siecią większą i macicą, małych do średnich zrostów w okolicy przydatków, małych do średnich zrostów w okolicy nacięcia powłok i trudności operowania z powodu ciężkich zrostów. Wyniki: Częstość występowania zrostów pomiędzy otrzewną i macicą (p=0,278), małych do średnich zrostów w okolicy przydatków (p=0,831), małych do średnich zrostów w okolicy nacięcia powłok (p=0,804) była podobna pomiędzy badanymi grupami (I,II i III) a grupą kontrolną (IV). Wnioski: Miomektomia podczas cięcia cesarskiego jest bezpieczną procedurą i może być przeprowadzana bez istotnych, pooperacyjnych zrostów

The role of serum podocalyxin levels in recurrent pregnancy loss

Objective: To measure serum levels of podocalyxin (PODXL) in recurrent miscarriages as a marker of vascular endothelial dysfunction. Study design: In this case-control study, women who were hospitalized for singleton first-trimester pregnancy terminations due to missed abortion, anembryonic pregnancy, and inevitable abortion were included. There were 24 patients who were admitted for the first pregnancy termination, 39 patients who were admitted for recurrent pregnancy loss (RPL), and 25 fetal cardiac activity positive patients as the control group. Demographic features, medical and obstetric histories were recorded. The measurements of serum PODXL were done by a human enzyme-linked immunosorbent assay kit. Results: Serum PODXL levels were found to be significantly higher in the RPL group than the control group and the first time miscarriage group (13.82 [10.09 113.54] vs. 11.78 [9.25 48.80], p = 0.016 and 13.82 [10.09–113.54] vs. 11.99 [8.20–20.47], p = 0.003; respectively). Serum PODXL levels were not statistically significantly different between the first miscarriage and the control group (p = 0.62). There were positive correlation between serum PODXL levels and the number of gravida and the number of miscarriages (r = 0.217, p = 0.042, and r = 0.291, p = 0.006; respectively). Conclusion: Recurrent miscarriage patients had higher serum levels of PODXL than both normal pregnancies and first-time miscarriages. Our results suggest that maternal endothelial dysfunction might have a role in recurrent pregnancy losses

Effects of Propolis on Selected Blood Indicators and Antioxidant Enzyme Activities in Broilers under Heat Stress

In this study, we investigated the antioxidant activity of ethanol extracts of propolis (EEP) and vitamin C on biochemical indicators and antioxidant enzyme activities of broilers exposed to heat stress (at 34 °C). The experimental groups were as follows: group I (positive control) and group II (control) were fed a basal diet, group III (vitamin C) was fed a basal diet supplemented with 250 mg vitamin C as ascorbic acid/kg, group IV (EEP-0.5) was fed a basal diet supplemented with 0.5 g EEP/kg, group V (EEP-1) was fed a basal diet supplemented with 1 g EEP/kg, group VI (EEP-3) was fed a basal diet supplemented with 3 g EEP/kg. Plasma superoxide dismutase levels of positive control, control, vitamin C, EEP-0.5, EEP-1 and EEP-3 groups were found as 0.34, 1.23, 0.50, 0.90, 0.30 and 0.41 μkat/ml, respectively (p p p < 0.05), whereas those of muscle and heart were similar in all groups. The results of the present study suggest that EEP and specially EEP at the supplemented dose of 3 mg/kg diet might be considered to prevent oxidative stress in the broilers exposed to heat stress

Genome sequencing in families with congenital limb malformations

The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all genetic variants. Here we aim to determine the diagnostic potential of GS as a comprehensive one-test-for-all strategy in a cohort of undiagnosed patients with congenital limb malformations. We collected 69 cases (64 trios, 1 duo, 5 singletons) with congenital limb malformations with no molecular diagnosis after standard clinical genetic testing and performed genome sequencing. We also developed a framework to identify potential noncoding pathogenic variants. We identified likely pathogenic/disease-associated variants in 12 cases (17.4%) including four in known disease genes, and one repeat expansion in HOXD13. In three unrelated cases with ectrodactyly, we identified likely pathogenic variants in UBA2, establishing it as a novel disease gene. In addition, we found two complex structural variants (3%). We also identified likely causative variants in three novel high confidence candidate genes. We were not able to identify any noncoding variants. GS is a powerful strategy to identify all types of genomic variants associated with congenital limb malformation, including repeat expansions and complex structural variants missed by standard diagnostic approaches. In this cohort, no causative noncoding SNVs could be identified. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00439-021-02295-y

Effects of estrogens and bladder inflammation on mitogen-activated protein kinases in lumbosacral dorsal root ganglia from adult female rats

BACKGROUND: Interstitial cystitis is a chronic condition associated with bladder inflammation and, like a number of other chronic pain states, symptoms associated with interstitial cystitis are more common in females and fluctuate during the menstrual cycle. The aim of this study was to determine if estrogens could directly modulate signalling pathways within bladder sensory neurons, such as extracellular signal-related kinase (ERK) and p38 mitogen-activated protein (MAP) kinases. These signalling pathways have been implicated in neuronal plasticity underlying development of inflammatory somatic pain but have not been as extensively investigated in visceral nociceptors. We have focused on lumbosacral dorsal root ganglion (DRG) neurons projecting to pelvic viscera (L1, L2, L6, S1) of adult female Sprague-Dawley rats and performed both in vitro and in vivo manipulations to compare the effects of short- and long-term changes in estrogen levels on MAPK expression and activation. We have also investigated if prolonged estrogen deprivation influences the effects of lower urinary tract inflammation on MAPK signalling. RESULTS: In studies of isolated DRG neurons in short-term (overnight) culture, we found that estradiol and estrogen receptor (ER) agonists rapidly stimulated ER-dependent p38 phosphorylation relative to total p38. Examination of DRGs following chronic estrogen deprivation in vivo (ovariectomy) showed a parallel increase in total and phosphorylated p38 (relative to beta-tubulin). We also observed an increase in ERK1 phosphorylation (relative to total ERK1), but no change in ERK1 expression (relative to beta-tubulin). We observed no change in ERK2 expression or phosphorylation. Although ovariectomy increased the level of phosphorylated ERK1 (vs. total ERK1), cyclophosphamide-induced lower urinary tract inflammation did not cause a net increase of either ERK1 or ERK2, or their phosphorylation. Inflammation did, however, cause an increase in p38 protein levels, relative to beta-tubulin. Prior ovariectomy did not alter the response to inflammation. CONCLUSIONS: These results provide new insights into the complex effects of estrogens on bladder nociceptor signalling. The diversity of estrogen actions in these ganglia raises the possibility of developing new ways to modulate their function in pelvic hyperactivity or pain states

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

We describe a consanguineous Iraqi family in which affected siblings had mild mental retardation and congenital ataxia characterized by quadrupedal gait. Genome-wide linkage analysis identified a 5.8 Mb interval on chromosome 8q with shared homozygosity among the affected persons. Sequencing of genes contained in the interval revealed a homozygous mutation, S100P, in carbonic anhydrase related protein 8 (CA8), which is highly expressed in cerebellar Purkinje cells and influences inositol triphosphate (ITP) binding to its receptor ITPR1 on the endoplasmatic reticulum and thereby modulates calcium signaling. We demonstrate that the mutation S100P is associated with proteasome-mediated degradation, and thus presumably represents a null mutation comparable to the Ca8 mutation underlying the previously described waddles mouse, which exhibits ataxia and appendicular dystonia. CA8 thus represents the third locus that has been associated with quadrupedal gait in humans, in addition to the VLDLR locus and a locus at chromosome 17p. Our findings underline the importance of ITP-mediated signaling in cerebellar function and provide suggestive evidence that congenital ataxia paired with cerebral dysfunction may, together with unknown contextual factors during development, predispose to quadrupedal gait in humans

Adventures in the Enormous: A 1.8 Million Clone BAC Library for the 21.7 Gb Genome of Loblolly Pine

Loblolly pine (LP; Pinus taeda L.) is the most economically important tree in the U.S. and a cornerstone species in southeastern forests. However, genomics research on LP and other conifers has lagged behind studies on flowering plants due, in part, to the large size of conifer genomes. As a means to accelerate conifer genome research, we constructed a BAC library for the LP genotype 7-56. The LP BAC library consists of 1,824,768 individually-archived clones making it the largest single BAC library constructed to date, has a mean insert size of 96 kb, and affords 7.6X coverage of the 21.7 Gb LP genome. To demonstrate the efficacy of the library in gene isolation, we screened macroarrays with overgos designed from a pine EST anchored on LP chromosome 10. A positive BAC was sequenced and found to contain the expected full-length target gene, several gene-like regions, and both known and novel repeats. Macroarray analysis using the retrotransposon IFG-7 (the most abundant repeat in the sequenced BAC) as a probe indicates that IFG-7 is found in roughly 210,557 copies and constitutes about 5.8% or 1.26 Gb of LP nuclear DNA; this DNA quantity is eight times the Arabidopsis genome. In addition to its use in genome characterization and gene isolation as demonstrated herein, the BAC library should hasten whole genome sequencing of LP via next-generation sequencing strategies/technologies and facilitate improvement of trees through molecular breeding and genetic engineering. The library and associated products are distributed by the Clemson University Genomics Institute (www.genome.clemson.edu)