91 research outputs found

    First-trimester fetal neurosonography: technique and diagnostic potential

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    Most of the brain abnormalities are present in fact also at first trimester but only a few of these are detected at such early stage. According to the current recommendations for the first trimester ultrasound, the fetal head structures that should be visualized are limited to the cranial bones, the midline falx and the choroid-plexus-filled ventricles. Using this basic approach almost all cases of acrania, alobar holoprosencephaly and cephalocele are usually detected, however the majority of the other abnormalities of the fetal central nervous system remain undiagnosed until midtrimester. Such anomalies are potentially detectable if the sonographic study is extended to additional anatomic details which are not currently included in the existing guidelines. The aim of this review article is to describe how to assess the normal fetal brain at first trimester expert multiplanar neurosonography and to demonstrate the early sonographic findings which characterize some major fetal brain abnormalities. This article is protected by copyright. All rights reserved

    Sars-CoV-2 in pregnancy: Why is it better than expected?

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    Since the outbreak of Coronavirus disease in December 2019, information specific to pregnancy remains limited and controversial. Based on data from previous reports, it has been noticed that contrary to prior pandemics such as SARS, MERS and H1N1 and although pregnancy is usually considered as a condition of high susceptibility to viral infections, new SARS-CoV2 infection seems to have a more benign clinical course when affecting pregnant women. We speculate that during pregnancy the physiological “silencing” of the Th1 pro-inflammatory response may blunt the cytokines storm which is thought to play a key-role in the pathogenesis of the severe complications of Covid-19

    Analysis and interpretation of the impact of missense variants in cancer

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    Large scale genome sequencing allowed the identification of a massive number of genetic variations, whose impact on human health is still unknown. In this review we analyze, by an in silico-based strategy, the impact of missense variants on cancer-related genes, whose effect on protein stability and function was experimentally determined. We collected a set of 164 variants from 11 proteins to analyze the impact of missense mutations at structural and functional levels, and to assess the performance of state-of-the-art methods (FoldX and Meta-SNP) for predicting protein stability change and pathogenicity. The result of our analysis shows that a combination of experimental data on protein stability and in silico pathogenicity predictions allowed the identification of a subset of variants with a high probability of having a deleterious phenotypic effect, as confirmed by the significant enrichment of the subset in variants annotated in the COSMIC database as putative cancer-driving variants. Our analysis suggests that the integration of experimental and computational approaches may contribute to evaluate the risk for complex disorders and develop more effective treatment strategie

    Prenatal diagnosis and outcome of fetuses with isolated agenesis of septum pellucidum: cohort study and meta-analysis

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    Objective: To evaluate the postnatal outcome of children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP). Methods: A retrospective cohort study of cases of prenatally diagnosed ASP followed in two tertiary centers and a meta-analysis combining data from the cohort study with data from published studies identified in a systematic review were carried out. Only cases with apparently isolated ASP on antenatal ultrasound and/or magnetic resonance imaging and with available postnatal follow-up data were considered eligible for inclusion. The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incidence of septo-optic dysplasia (SOD) and incidence of major neurological disability (motor, language, coordination or behavioral disorder or epilepsy) in non-SOD children. The incidence of SOD in infants with apparently normal optic pathways on antenatal imaging was also evaluated. Results: Fifteen cases of isolated ASP, with median postnatal follow-up of 36 months (range, 12-60 months), were selected from the two centers. Six previously published studies met the inclusion criteria for the systematic review and a total of 78 cases were eligible for the analysis, including the 15 cases from our series. Genetic tests were carried out antenatally in 30 fetuses, of which two had an abnormal result (pooled proportion, 9.0% (95% CI, 1.8-20.7%); I2  = 0%). Additional or discordant imaging findings were noted postnatally in 9/70 (pooled proportion, 13.7% (95% CI, 3.5-29.0%); I2  = 63.9%) cases. Of all 78 neonates with available follow-up, SOD was diagnosed postnatally in 14 (pooled proportion, 19.4% (95% CI, 8.6-33.2%); I2  = 51.2%). In 60 cases, the optic pathways were considered to be normal on antenatal imaging, and six of these (pooled proportion, 9.1% (95% CI, 1.1-24.0%); I2  = 62.0%) were diagnosed postnatally with SOD. Of the 46 infants with available neurological follow-up who were not affected by SOD, a major neurological disability was diagnosed in three (pooled proportion, 6.5% (95% CI, 0.5-18.6%); I2  = 40.1%). Conclusions: In the vast majority of cases with a prenatal diagnosis of apparently isolated ASP, the prognosis is favorable. However, an additional anomaly is detected after birth in about 14% of cases and has a negative impact on clinical outcome. Detailed antenatal assessment of the brain and optic pathways is strongly recommended in order to identify the presence of associated anomalies. Antenatal visualization of apparently normal optic pathways does not rule out SOD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology

    Análisis aeropalinológico en tres áreas de vegetación dentro del Parque Nacional El Palmar (Colón, Entre Ríos) y su relación con la vegetación local y regional

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    Muñoz, Nadia E. CONICET. Laboratorio de Palinoestratigrafía y Paleobotánica. Dr. Matteri y España (CICYTTP). Entre Ríos, Argentina.Di Pasquo, Mercedes. CONICET. Laboratorio de Palinoestratigrafía y Paleobotánica. Dr. Matteri y España (CICYTTP). Entre Ríos, Argentina.Biganzoli, Fernando. Universidad de Buenos. Facultad de Agronomía. Departamento de Métodos Cuantitativos y Sistemas de Información. Buenos Aires, Argentina.Batista, William Bennett. Universidad de Buenos. Facultad de Agronomía. Departamento de Métodos Cuantitativos y Sistemas de Información. Buenos Aires, Argentina.473-496La diversidad de polen atmosférico colectado mensualmente durante dos años (2011-2013) en trampas Tauber en tres sitios del Parque Nacional El Palmar (provincia de Entre Ríos) es usada para caracterizar la vegetación. El sitio 1 es un área mixta compuesta por pastizales, palmares y humedales. El sitio 2 es un área de pastizales y el sitio 3 un palmar denso. Se identificaron 71 tipos polínicos comprendidos en 43 familias procedentes de fuentes locales, regionales y extraregionales. Dieciséis tipos resultaron abundantes con más de 1% del Annual Pollen Influx en al menos dos muestras. Diferentes factores relacionados con los cambios cuali - cuatitativos de los taxa en el intervalo de estudio son considerados. Por lo tanto, la composición florística de cada sitio en comparación con sus asociaciones polínicas reveló que el sitio 2 se caracteriza por una alta abundancia de Asteraeceae - Asteroideae, con un aumento en el valor de Vernonia (Asteraceae Cichoroidea) y Lamiaceae durante el segundo año. Por otro lado, una composición palinológica similar (Asteraeceae - Asteroideae, Myrtaceae, Blepharocalyx salicifolius, Poaceae) se encuentra en los sitios 1 y 3, con tasas de variación entre ambos años. El sitio 3 se diferencia de los otros dos por el registro de Butia yatay en baja frecuencia en porcentajes similares en ambos años, en tanto que Adiantopsis chlorophylla y Microgramma mortoniana aumentaron durante el segundo año

    Antepartum evaluation of the obstetric conjugate at transabdominal 2D ultrasound: A feasibility study

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    Introduction: The obstetric conjugate represents the shortest anteroposterior diameter of the birth canal and it reflects the capacity of the pelvic inlet to allow the passage and the engagement of the fetal head. The antepartum evaluation of this parameter may be attempted at digital examination to predict the risk of cephalopelvic disproportion, but the accuracy of clinical pelvimetry is notoriously poor. The aim of our study was to describe the sonographic measurement of the obstetric conjugate at transabdominal 2D-ultrasound and to assess its reproducibility. Material and methods: This is a prospective cohort study conducted at a tertiary University hospital. A non-consecutive series of pregnant women with uncomplicated singleton pregnancies attending the antenatal clinic for routine booking from 34 weeks of gestation onward were included. The ultrasound probe was longitudinally placed above the level of the symphysis and the interpubic fibrocartilaginous disk was visualized. Then the promontory was identified as the most prominent segment of the sacral vertebral column. The obstetric conjugate was measured as the distance between the inner edge of the interpubic disk and the promontory. The inter- and intraobserver repeatability of this measurement was calculated using the intraclass correlation coefficient (ICC) and the Bland–Altman method. Results: In all, 119 women were considered eligible for the study; of these, 111/119 (93.3%) women were included in the analysis with a median gestational age of 36.0 (35.0–37.0) weeks. The mean obstetric conjugate measurement was 11.4 ± 0.93 mm for the first operator and 11.4 ± 0.91 mm for the second operator. The overall interobserver ICC was 0.95 (95% [confidence interval] CI 0.92–0.96) and the overall intraobserver ICC was 0.97 (95% CI 0.96–0.98). Limits of agreement ranged from −0.84 to 0.80 for interobserver measures and from −0.64 to 0.62 for intraobserver measures. The degree of reliability was also analyzed for women with a body mass index ≥30 and for women with a gestational age ≥37 weeks. The inter- and intraobserver ICCs were respectively 0.97 (95% CI 0.90–0.98) and 0.98 (0.95–0.99) in the former group and 0.96 (95% CI 0.93–0.98) and 0.97 (95% CI 0.95–0.98) in the latter group. Conclusions: Our study demonstrated that among pregnant women at term gestation, sonographic measurement of the obstetric conjugate is feasible and reproducible

    Usefulness of an Intrapartum Ultrasound Simulator (IUSim™) for Midwife Training: Results from an RCT

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    Introduction: We conducted a randomized study to determine whether a training session on a dedicated simulator (IUSim™) would facilitate the midwives in learning the technique of transperineal intrapartum ultrasound. Methods: Following a 30-min multimedia presentation including images and videos on how to obtain and measure the angle of progression (AoP) and the head-perineum distance (HPD), 6 midwives with no prior experience in intrapartum ultrasound were randomly split into 2 groups: 3 of them were assigned to the "training group"and 3 to the "control group."The midwives belonging to the former group were taught to measure the 2 sonographic parameters during a 3-h practical session conducted on IUSim™ under the supervision of an expert obstetrician. In the following 3 months, all the 6 midwives were asked to independently perform transperineal ultrasound during their clinical practice and to measure on the acquired images either the AoP or the HPD. The sonographic images were examined in blind by the teaching obstetrician who assigned a 0-3 score to the image quality (IQS) and to the measurement quality (MQS). Results: A total of 48 ultrasound images (24 patients) from 5 midwives were acquired and included in the study analysis. A midwife of the "training group"declined participation after the practical session. Independently from the randomization group, the image quality score (IQS + MQS) was significantly higher for the HPD compared with the AoP (2.5 ± 0.66 vs. 1.79 ± 1.14; p = 0.01). In the training group, the MQS of either AoP (2.66 ± 0.5 vs.1.46 ± 1.45. p = 0.038) and the HPD (2.9 ± 0.33 vs. 1.87 ± 0.83 p = 0.002) was significantly higher in comparison with the control group, while the IQS of both measurements was comparable between the 2 groups (1.91 ± 1.24 vs. 2.25 ± 0.865; p = 0.28). Conclusion: The use of a dedicated simulator may facilitate the midwives in learning how to measure the AoP and the HPD on transperineal ultrasound images
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