Lpa1-5525 : a new lpa1 mutant isolated in a mutagenized population by a novel non-disrupting screening method

Phytic acid, or myo-inositol 1,2,3,4,5,6-hexakisphosphate, is the main storage form of phosphorus in plants. It is localized in seeds, deposited as mixed salts of mineral cations in protein storage vacuoles; during germination, it is hydrolyzed by phytases to make available P together with all the other cations needed for seed germination. When seeds are used as food or feed, phytic acid and the bound cations are poorly bioavailable for human and monogastric livestock due to their lack of phytase activity. Therefore, reducing the amount of phytic acid is one strategy in breeding programs aimed to improve the nutritional properties of major crops. In this work, we present data on the isolation of a new maize (Zea mays L.) low phytic acid 1 (lpa1) mutant allele obtained by transposon tagging mutagenesis with the Ac element. We describe the generation of the mutagenized population and the screening to isolate new lpa1 mutants. In particular, we developed a fast, cheap and non-disrupting screening method based on the different density of lpa1 seed compared to the wild type. This assay allowed the isolation of the lpa1-5525 mutant characterized by a new mutation in the lpa1 locus associated with a lower amount of phytic phosphorus in the seeds in comparison with the wild type

Counseling in isolated mild fetal ventriculomegaly

AbstractIn this Review we aim to provide up‐to‐date and evidence‐based answers to the common questions regarding the diagnosis of isolated mild fetal ventriculomegaly (VM). A literature search was performed to identify all reports of antenatal VM in the English language literature. In addition, reference lists of articles identified using the search were scrutinized to further identify relevant articles. Fetal mild VM is commonly defined as a ventricular atrial width of 10.0–15.0 mm, and it is considered isolated if there are no associated ultrasound abnormalities. There is no good evidence to suggest that the width of the ventricular atria contributes to the risk of neurodevelopmental outcome in fetuses with mild VM. The most important prognostic factors are the association with other abnormalities that escape early detection and the progression of ventricular dilatation, which are reported to occur in about 13% and 16% of cases, respectively. Most infants with a prenatal diagnosis of isolated mild VM have normal neurological development at least in infancy. The rate of abnormal or delayed neurodevelopment in infancy is about 11%, and it is unclear whether this is higher than in the general population. Furthermore, the number of infants that develop a real handicap is unknown. There are limitations of existing studies of mild VM. Although they address many of the relevant questions regarding the prognosis and management of fetal isolated mild VM, there is a lack of good‐quality postnatal follow‐up studies. The resulting uncertainties make antenatal counseling for this abnormality difficult. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd

VP68.09: Pelvic floor muscle strength and urinary incontinence at term

n/

Ultrasound methodology used to construct the fetal growth standards in the INTERGROWTH-21st Project

A unified protocol is essential to ensure that fetal ultrasound measurements taken in multicentre research studies are accurate and reproducible. This paper describes the methodology used to take two-dimensional, ultrasound measurements in the longitudinal, fetal growth component of the INTERGROWTH-21st Project. These standardised methods should minimise the systematic errors associated with pooling data from different study sites. They represent a model for carrying out similar research studies in the future

Sonographic knowledge of occiput position to decrease failed operative vaginal delivery: a systematic review and meta-analysis of randomized controlled trials

Objective: This study aimed to assess the efficacy of sonographic assessment of fetal occiput position before operative vaginal delivery to decrease the number of failed operative vaginal deliveries. Data Sources: The search was conducted in MEDLINE, Embase, Web of Science, Scopus, ClinicalTrial.gov, Ovid, and Cochrane Library as electronic databases from the inception of each database to April 2021. No restrictions for language or geographic location were applied. Study Eligibility Criteria: Selection criteria included randomized controlled trails of pregnant women randomized to either sonographic or clinical digital diagnosis of fetal occiput position during the second stage of labor before operative vaginal delivery. Methods: The primary outcome was failed operative vaginal delivery, defined as a failed fetal operative vaginal delivery (vacuum or forceps) extraction requiring a cesarean delivery or forceps after failed vacuum. The summary measures were reported as relative risks or as mean differences with 95% confidence intervals using the random effects model of DerSimonian and Laird. An I2 (Higgins I2) >0% was used to identify heterogeneity. Results: A total of 4 randomized controlled trials including 1007 women with singleton, term, cephalic fetuses randomized to either the sonographic (n=484) or clinical digital (n=523) diagnosis of occiput position during the second stage of labor before operative vaginal delivery were included. Before operative vaginal delivery, fetal occiput position was diagnosed as anterior in 63.5% of the sonographic diagnosis group vs 69.5% in the clinical digital diagnosis group (P=.04). There was no significant difference in the rate of failed operative vaginal deliveries between the sonographic and clinical diagnosis of occiput position groups (9.9% vs 8.2%; relative risk, 1.14; 95% confidence interval, 0.77–1.68). Women randomized to sonographic diagnosis of occiput position had a significantly lower rate of occiput position discordance between the evaluation before operative vaginal delivery and the at birth evaluation when compared with those randomized to the clinical diagnosis group (2.3% vs 17.7%; relative risk, 0.16; 95% confidence interval, 0.04–0.74; P=.02). There were no significant differences in any of the other secondary obstetrical and perinatal outcomes assessed. Conclusion: Sonographic knowledge of occiput position before operative vaginal delivery does not seem to have an effect on the incidence of failed operative vaginal deliveries despite better sonographic accuracy in the occiput position diagnosis when compared with clinical assessment. Future studies should evaluate how a more accurate sonographic diagnosis of occiput position or other parameters can lead to a safer and more effective operative vaginal delivery technique

Genetic and chemical comparison among Camelina sativa varieties

Camelina sativa (Camelina sativa L. Crantz.) belonging to the mustard family, typically contain about 40 % oil in the seeds, 90 % of which is made up of unsaturated fatty acids: about 30\u201340% fraction of alpha linolenic acid, 15\u201325% fraction of linoleic acid, 15% fraction of oleic acid and around 15% eicosenoic acid. Genetic studies of the genome of C. sativa suggest a polyploid structure being more probably a hexaploid species. In European countries and Russia, camelina was grown as an agricultural crop before the II World War; now the renewed interest on this crop is mainly due to the search for new sources of essential fatty acids, particularly n-3(omega-3) fatty acids to be used in human food and animal feed products. In this work we compared different varieties of camelina grown in different conditions: in experimental field, greenhouse and grow chamber. We characterized the genetic material by SSRs to assess the genetic diversity to assist future breeding programs. In particular we have set up a breeding program aimed at reducing the glucosinolate content in camelina seed because of its toxic effect when present at high levels in seeds used as feed. Glucosinolate are sulphur-containing glucosides, found mainly in Brassicaceae, involved in plant defense. In the last year these molecules have been studied also because of their activities as natural pesticides and their protective effects against cancer, heart disease and chronic inflammatory disease. We are now characterizing camelina seeds for glucosinolate content in order to develop a diagnostic marker based on the analytical determination of the sulfur isotopic signature (\uf06434S). Such a marker will allow to easily select genetic materials with different glucosinolate contents without the use of complex and expensive analytical techniques

Evolutionary trends and phylogenetic association of key morphological traits in the Italian rice varietal landscape

Efficient germplasm exploitation in crop breeding requires comprehensive knowledge of the available genetic diversity. Linking molecular data to phenotypic expression is fundamental for the profitable utilisation of genetic resources. Italian rice germplasm is an invaluable source of genes, being characterised by marked heterogeneity. A phenotypic characterisation is presented in this paper, with a focus on the evolutionary trends, and on the comparison with available molecular studies. A panel of 351 Italian rice varieties was analysed using seven key morphological traits, employing univariate and multivariate analyses. Considerable variability was found, with clear morphological trends towards reduced plant height, earliness, and spindle-shaped caryopses. Previous findings indicating that genetic diversity was maintained throughout time could not be confirmed, as small phenotypic variability was found in the most recent rice varieties. Consistency with phylogenetic data from previous studies was partial: one phylogenetic subgroup was phenotypically well distinct, while the others had overlapping characteristics and encompassed a wide range of phenotypic variation. Our study provides a quantitative ready-to-use set of information to support new breeding programs, as well as the basis to develop variety-specific calibrations of eco-physiological models, to identify promising traits in light of climate change conditions and alternative management scenarios

Neurodevelopmental outcomes of very preterm infants born following early foetal growth restriction with absent end-diastolic umbilical flow

This study aims to assess the impact of time of onset and features of early foetal growth restriction (FGR) with absent end-diastolic flow (AEDF) on pregnancy outcomes and on preterm infants' clinical and neurodevelopmental outcomes up to 2 years corrected age. This is a retrospective, cohort study led at a level IV Obstetric and Neonatal Unit in Bologna, Italy. Pregnant women were eligible if having singleton pregnancies, with no major foetal anomaly detected, and diagnosed with early FGR + AEDF (defined as FGR + AEDF detected before 32 weeks gestation). Early FGR + AEDF was further classified according to time of onset and specific features into very early and persistent (VEP, FGR + AEDF first detected at 20-24 weeks gestation and persistent at the following scans), very early but transient (VET, FGR + AEDF detected at 20-24 weeks gestation and progressively improving at the following scans) and later (LA, FGR + AEDF detected between 25 and 32 weeks gestation). Pregnancy and neonatal outcomes and infant follow-up data were collected and compared among groups. Neurodevelopment was assessed using the revised Griffiths Mental Developmental Scales (GMDS-R) 0-2 years. A regression analysis was performed to identify early predictors of preterm infants' neurodevelopmental impairment. Fifty-two pregnant women with an antenatal diagnosis of early FGR + AEDF were included in the study (16 VEP, 14 VET, 22 LA). Four intrauterine foetal deaths occurred, all in the VEP group (p = 0.010). Compared to LA infants, VEP infants were born with lower gestational age and lower birth weight, had lower arterial cord blood pH and were at higher risk for intraventricular haemorrhage and periventricular leukomalacia (p < 0.05 for all comparisons). At 12 months, VEP infants had worse GMDS-R scores, both in the general quotient (mean [SD] 91.8 [12.4] vs 104.6 [8.7] in LA) and in the performance domain (mean [SD] 93.3 [15.4] vs 108.8 [8.8] in LA). This latter difference persisted at 24 months (mean [SD] 68.3 [17.0] vs 92.9 [17.7] in LA). In multivariate analysis, at 12 months corrected age, PVL was found to be an independent predictor of impaired general quotient, while the features and timing of antenatal Doppler alterations predicted worse scores in the performance domain.Conclusion: Timing of onset and features of early FGR + AEDF might impact differently on neonatal clinical and neurodevelopmental outcomes. Shared awareness of the importance of FGR + AEDF features between obstetricians and neonatologists may offer valuable tools for antenatal counselling and for tailoring pregnancy management and neonatal follow-up in light of specific antenatal and neonatal risk factors

Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance

Introduction: The objective of this study was to describe a cohort of fetuses with an ultrasound prenatal diagnosis of obliterated cavum septi pellucidi (oCSP) with the aim to explore the rate of associated malformations, the progression during pregnancy and the role of fetal magnetic resonance imaging (MRI).Material and methods: This was a retrospective multicenter international study of fetuses diagnosed with oCSP in the second trimester with available fetal MRI and subsequent ultrasound and/or fetal MRI follow-up in the third trimester. Where available, postnatal data were collected to obtain information on neurodevelopment.Results: We identified 45 fetuses with oCSP at 20.5 weeks (interquartile range 20.1-21.1). oCSP was apparently isolated at ultrasound in 89% (40/45) and fetal MRI found additional findings in 5% (2/40) of cases, including polymicrogyria and microencephaly. In the remaining 38 fetuses, fetal MRI found a variable amount of fluid in CSP in 74% (28/38) and no fluid in 26% (10/38). Ultrasound follow-up at or after 30 weeks confirmed the diagnosis of oCSP in 32% (12/38) while fluid was visible in 68% (26/38). At follow-up MRI, performed in eight pregnancies, there were periventricular cysts and delayed sulcation with persistent oCSP in one case. Among the remaining cases with normal follow-up ultrasound and fetal MRI findings, the postnatal outcome was normal in 89% of cases (33/37) and abnormal in 11% (4/37): two with isolated speech delay, and two with neurodevelopmental delay secondary to postnatal diagnosis of Noonan syndrome at 5 years in one case and microcephaly with delayed cortical maturation at 5 months in the other.Conclusions: Apparently isolated oCSP at mid-pregnancy is a transient finding with the visualization of the fluid later in pregnancy in up to 70% of cases. At referral, associated defects can be found in around 11% of cases at ultrasound and 8% at fetal MRI indicating the need for a detailed evaluation by expert physicians when oCSP is suspected

Traditional farmers’ varieties: a valuable source of genetic variability for biofortification programs

Several studies underlined the superiority from a nutritional point of view of ancient varieties. In the last years the interest for landraces has been growing, for this reason preservation and valorisation of these genetic sources is very important. In particular these varieties are source of precious genetic variability interesting from a scientific point of view to preserve biodiversity but also for biofortification programs aimed to support small rural communities, where the particular maize germplasm has been developed. In this work we characterized from the nutritional point of view 13 ancient Italian varieties and one coming from Spain (Millo Corvo). In this pre-breeding work we demonstrate the nutritional superiority of ancient varieties if compared with modern hybrids. In particular Spinato di Gandino is the best variety for milling properties and for oil, protein, and total phosphorus content; Storo is the best variety for calorific value and for carotenoids and free phosphorus content. Using these varieties in the next future we will start a bio-fortification program aimed to obtain new populations with improved yields and high nutritional value