Systematic ultrasound evaluation of olfactory sulci in fetuses with congenital heart defects: a clue for CHARGE syndrome diagnosis.

Objectives: This study aimed to assess the role of olfactory sulci (OS) in diagnosing CHARGE syndrome among fetuses with major congenital heart defects (CHDs).

Methods: We prospectively evaluated OS development in fetuses diagnosed with CHDs from 2017 to 2021. Neurosonography (NSG) was performed using transabdominal and transvaginal approaches after 30 weeks of gestation.

Characterization of plastic ingestion in urban gull chicks and its implications for their use as pollution sentinels in coastal cities.

The increase of plastic pollution represents a significant ecological threat, particularly in human-impacted environments. However, the effects of plastic ingestion by urban wildlife are less understood. This study investigates the presence of microplastic (MPs; plastic <5 mm in size) and macroplastics (MaPs, plastic >5 mm in size) in yellow-legged gull (Larus michahellis) chicks inhabiting the urban marine ecosystem of Barcelona (northeastern Spain).

Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women.

: Cell-free DNA (cfDNA) is a non-invasive prenatal test used to screen for common trisomies (target cfDNA) that can be expanded to assess all autosomal chromosomes (genome-wide cfDNA). As cfDNA testing gains popularity, it is crucial to examine the factors influencing the decision-making process of pregnant individuals when choosing between these two approaches. : In this prospective cohort study, 190 individuals undergoing cfDNA testing for aneuploidy screening, according to the current screening protocol, were allowed to make their own choice between target and genome-wide cfDNA testing.

Microplastic characterization in the stomachs of swordfish (Xiphias gladius) from the western Mediterranean Sea.

In this study, we aimed to quantify the presence of microplastics (MPs) in the stomachs of large pelagic fish (swordfish, Xiphias gladius, Linnaeus, 1758) sampled in the western Mediterranean Sea, and assess temporal trends (2011-2012 vs. 2017-2019) in MP ingestion. MPs were extracted from stomachs and characterized by μ-Fourier transform infrared spectroscopy.

Mapping quantitative trait loci for seminal root angle in a selected durum wheat population.

Seminal root angle (SRA) is an important root architectural trait associated with drought adaptation in cereal crops. To date, all attempts to dissect the genetic architecture of SRA in durum wheat (Triticum durum Desf.) have used large association panels or structured mapping populations.

Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis.

Objective: This document addresses the clinical application of next-generation sequencing (NGS) technologies for prenatal genetic diagnosis and aims to establish clinical practice recommendations in Spain to ensure uniformity in implementing these technologies into prenatal care.

Methods: A joint committee of expert obstetricians and geneticists was created to review the existing literature on fetal NGS for genetic diagnosis and to make recommendations for Spanish healthcare professionals.

Results: This guideline summarises technical aspects of NGS technologies, clinical indications in prenatal setting, considerations regarding findings to be reported, genetic counselling considerations as well as data storage and protection policies.

Order within chaos: potential migratory strategies and individual associations in fin whales feeding off Iceland.

Background: The life cycle of most baleen whales involves annual migrations from low-latitude breeding grounds to high latitude feeding grounds. In most species, these migrations are traditionally considered to be carried out according to information acquired through vertical social learning during the first months of life and made individually. However, some recent studies have suggested a more complex scenario, particularly for the species of the Balaenoptera genus.

Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings.

Objectives: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnancies undergoing invasive diagnostic procedures for minor or simple ultrasound findings with no indication of ES.

Methods: Women undergoing invasive diagnostic testing (chorionic villus sampling or amniocentesis) for QF-PCR and chromosomal microarray analysis (CMA) due to prenatal ultrasound findings without an indication for ES were selected over a five-month period (May-September 2021). ES was performed to compare the efficiency of genome-wide CNV detection against CMA analysis and to detect monogenic disorders.

A novel NONO nonsense variant in a fetus with renal abnormalities.

At 16 + 6-weeks a fetal scan performed in the second pregnancy of a 42 y.o. woman identified a right multicystic dysplastic kidney, left renal agenesis, absent urinary bladder, myocardial hypertrophy, increased nuchal fold, a single umbilical artery, and oligohydramnios.

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Objectives: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities.

Methods: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included.

Shock-Impacts and Vibrational -Forces Can Dislodge spp. Spores from Spacecraft Surfaces.

Mars spacecraft encounter numerous -loads that occur along the launch or landing vectors (called axial vectors) or along lateral off-axes vectors. The goal of this research was to determine if there was a threshold for dislodging spores under brute-force dynamic shock compressional impacts (i.e.

Biomagnification and temporal trends (1990-2021) of perfluoroalkyl substances in striped dolphins (Stenella coeruleoalba) from the NW Mediterranean sea.

Poly- and Perfluoroalkyl Substances (PFAS) are a well-known class of pollutants which can bioaccumulate and biomagnify with a vast majority being highly persistent. This study aims to determine the biomagnification rates of PFAS in sexually mature striped dolphins and to assess temporal trends on PFAS concentrations over the past three decades (1990-2021) in the North-Western Mediterranean Sea. Thirteen and 17 of the 19 targeted PFAS were detected in the samples of the dolphins' digestive content and liver, respectively, at concentrations ranging between 43 and 1609 ng/g wet weight, and 254 and 7010 ng/g wet weight, respectively.

Genetic dissection of root architecture in Ethiopian sorghum landraces.

This study quantified genetic variation in root system architecture (root number, angle, length and dry mass) within a diversity panel of 1771 Ethiopian sorghum landraces and identified 22 genomic regions associated with the root variations. The root system architecture (RSA) of crop plants influences adaptation to water-limited conditions and determines the capacity of a plant to access soil water and nutrients. Four key root traits (number, angle, length and dry mass) were evaluated in a diversity panel of 1771 Ethiopian sorghum landraces using purpose-built root chambers.

Detection and quantification of microplastic pollution in the endangered Galapagos sea lion.

Marine debris pollution poses a significant global threat to biodiversity, with plastics being the primary debris type found in oceans due to their low-cost production and high demand worldwide. Microplastics (MPs, <5 mm in size) are highly bioavailable to a wide range of marine taxa, including marine mammals, through direct and indirect ingestion routes (i.e.

Concentrations of bisphenols and phthalate esters in the muscle of Mediterranean striped dolphins (Stenella coeruleoalba).

Bisphenols (BPs) and phthalate esters (PAEs) are important compounds for the plastics industry, also called "everywhere chemicals" due to their ubiquity in daily use products. Both chemical groups are well-known environmental contaminants, whose presence has been reported in all environmental compartments, and whose effects, mainly associated to endocrine disruption, are detrimental to living organisms. Cetaceans, due to their long life-span, low reproduction rate and high position in the trophic web, are especially vulnerable to the effects of contaminants.

Integrating stay-green and PIN-FORMED genes: PIN-FORMED genes as potential targets for designing climate-resilient cereal ideotypes.

Plant architecture modification (e.g. short-stature crops) is one of the key outcomes of modern crop breeding for high-yielding crop varieties.

High aluminum content in bone of marine mammals and its relation with source levels and origin.

Although aluminum is widely distributed in the earth's crust, its environmental availability and wildlife assimilation rates are only partially known. Here we analyze aluminum concentrations in bone from 10 species of marine mammals inhabiting 3 geographic areas subject to different aluminum inputs: the Río de la Plata estuary (Uruguay), the coastal waters of Mauritania and the Galapagos archipelago (Ecuador). Overall, concentrations were unusually high as compared to those of terrestrial animals, with lowest concentrations in the Galapagos archipelago, then the Río de la Plata estuary and finally Mauritania.

Effect of formic acid treatment on carbon and nitrogen stable isotope ratios in sperm whale teeth dentine.

Rationale: Stable isotope analysis of growth layers in sperm whale teeth dentine can provide valuable insight into individual long-distance displacements and diet. Although treating teeth half-sections with formic acid and rubbing their surface with a graphite pencil improves growth layer visibility and reduces sampling error, previous studies mostly used untreated half-sections as the effect that this treatment may have on stable isotope ratios in dentine is unknown. The present study investigates the treatment effect on stable C and N isotope ratios in sperm whale teeth dentine.

Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta-analysis.

The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). This was a systematic review conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Selected studies included those with (a) only fetuses with FGR in the absence of fetal structural anomalies and (b) negative CMA or karyotyping results.