Rapid infant learning of syntactic-semantic links.

In the second year of life, infants begin to rapidly acquire the lexicon of their native language. A key learning mechanism underlying this acceleration is syntactic bootstrapping: the use of hidden cues in grammar to facilitate vocabulary learning. How infants forge the syntactic-semantic links that underlie this mechanism, however, remains speculative.

Association of location of BRCA1 and BRCA2 mutations with benefit from olaparib and bevacizumab maintenance in high-grade ovarian cancer: phase III PAOLA-1/ENGOT-ov25 trial subgroup exploratory analysis.

Background: In the phase III PAOLA-1 study, the addition of maintenance olaparib to bevacizumab in patients with newly diagnosed high-grade ovarian cancer (HGOC) resulted in prolonged progression-free survival (PFS), particularly for homologous recombination deficiency-positive tumors, including those with a BRCA mutation (BRCAm). The magnitude of benefit from olaparib and bevacizumab according to the location of mutation in BRCA1/BRCA2 remains to be explored.

Patients And Methods: Patients with advanced-stage HGOC responding after platinum-based chemotherapy + bevacizumab received maintenance therapy bevacizumab (15 mg/kg q3w for 15 months) + either olaparib (300 mg b.

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.

Germline DNA alterations affecting homologous recombination pathway genes have been associated with pancreatic cancer (PC) risk. BRCA2 is the most studied gene and affects the management of PC patients and their families. Even though recent reports have suggested a similar role of germline ATM pathogenic variants (PV) in familial PC, there is still a disagreement between experts on how it could affect patient management given the lack of proper PC risk estimates.

Structure Elucidation, Total Synthesis, Antibacterial In Vivo Efficacy and Biosynthesis Proposal of Myxobacterial Corramycin.

Herein, we describe the myxobacterial natural product Corramycin isolated from Corallococcus coralloides. The linear peptide structure contains an unprecedented (2R,3S)-γ-N-methyl-β-hydroxy-histidine moiety. Corramycin exhibits anti-Gram-negative activity against Escherichia coli (E.

Reliability of 3-D Virtual Abdominal Tele-ultrasonography in Pediatric Emergency: Comparison with Standard-of-Care Ultrasound Examination.

Ultrasound is currently recommended as the first-line examination for abdominal symptoms in children. However, a pediatric radiologist is not always available on site, especially during on-call duty. This study was aimed at evaluating the reliability of an innovative 3-D virtual abdominal tele-ultrasonography in this context.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n = 38) with QRICH1 variants.

Independent Association Between Occupational Exposure and Decline of FVC in Systemic Sclerosis: A Multicenter Recruitment Retrospective Cohort Study.

Background: Although male sex is associated with poor prognosis in systemic sclerosis (SSc), it is unclear whether this association is independent of confounding factors such as occupational exposure to toxicants.

Research Question: What is the respective impact of sex and occupational exposure on characteristics of patients with SSc with a focus on lung function decline?

Study Design And Methods: Patients with SSc (n = 210; 55 men) underwent standardized quantitative assessment of occupational exposure through a cumulative exposure score (CES) in a multicenter recruitment retrospective cohort. Association of the CES with patients' characteristics was assessed.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs.

Liver shear wave elastography and attenuation imaging coefficient measures: prospective evaluation in healthy children.

Purpose: Ultrasonographic quantitative measurements enable characterizing the stiffness and viscosity of liver parenchyma. Normal Shear Wave Elastography (SWE) values have been reported in adults and children. The Attenuation Imaging (ATI) coefficient is a measure of local sound energy loss thought to reflect steatosis in adults.

Toddler word learning from contingent screens with and without human presence.

While previous studies have documented that toddlers learn less well from passive screens than from live interaction, the rise of interactive, digital screen media opens new perspectives, since some work has shown that toddlers can learn similarly well from a human present via video chat as from live exposure. The present study aimed to disentangle the role of human presence from other aspects of social interactions on learning advantages in contingent screen settings. We assessed 16-month-old toddlers' fast mapping of novel words from screen in three conditions: in-person, video chat, and virtual agent.

OrpR is a σ -dependent activator using an iron-sulfur cluster for redox sensing in Desulfovibrio vulgaris Hildenborough.

Enhancer binding proteins (EBPs) are key players of σ -regulation that control transcription in response to environmental signals. In the anaerobic microorganism Desulfovibrio vulgaris Hildenborough (DvH), orp operons have been previously shown to be coregulated by σ -RNA polymerase, the integration host factor IHF and a cognate EBP, OrpR. In this study, ChIP-seq experiments indicated that the OrpR regulon consists of only the two divergent orp operons.

"The tiger is hitting! the duck too!" 3-year-olds can use prosodic information to constrain their interpretation of ellipsis.

This work aims to investigate French children's ability to use phrasal boundaries for disambiguation of a type of ambiguity not yet studied, namely stripping sentences versus simple transitive sentences. We used stripping sentences such as "[Le tigre tape]! [Le canard aussi]!" ("[The tiger is hitting]! [The duck too]!", in which both the tiger and the duck are hitting), which, without the prosodic information, would be ambiguous with a transitive sentence such as "[Le tigre] [tape le canard aussi]!" ("[The tiger] [is hitting the duck too]!", in which the tiger is hitting the duck). We presented 3-to-4-year-olds and 28-month-olds with one of the two types of sentence above, while they watched two videos side-by-side on a screen: one depicting the transitive interpretation of the sentences, and another depicting the stripping interpretation.

A multi-lab study of bilingual infants: Exploring the preference for infant-directed speech.

From the earliest months of life, infants prefer listening to and learn better from infant-directed speech (IDS) than adult-directed speech (ADS). Yet, IDS differs within communities, across languages, and across cultures, both in form and in prevalence. This large-scale, multi-site study used the diversity of bilingual infant experiences to explore the impact of different types of linguistic experience on infants' IDS preference.

Toddlers exploit referential and syntactic cues to flexibly adapt their interpretation of novel verb meanings.

Because linguistic communication is often noisy and uncertain, adults flexibly rely on different information sources during sentence processing. We tested whether toddlers engage in a similar process and how that process interacts with verb learning. Across two experiments, we presented French 28-month-olds with right-dislocated sentences featuring a novel verb ("He is VERBing, the boy"), where a clear prosodic boundary after the verb indicates that the sentence is intransitive (such that the NP "the boy" is coreferential with the pronoun "he" and the sentence means "The boy is VERBing").

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using Exon 3 as a Model System.

is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all VUS, those causing partial/leaky splicing defects are the most challenging to classify because the minimal level of full-length (FL) transcripts required for normal function remains to be established. Here, we explored exon 3 (e3) as a model for calibrating variant-induced spliceogenicity and estimating thresholds for haploinsufficiency.

Functional classification of ATM variants in ataxia-telangiectasia patients.

Ataxia-telangiectasia (A-T) is a recessive disorder caused by biallelic pathogenic variants of ataxia-telangiectasia mutated (ATM). This disease is characterized by progressive ataxia, telangiectasia, immune deficiency, predisposition to malignancies, and radiosensitivity. However, hypomorphic variants may be discovered associated with very atypical phenotypes, raising the importance of evaluating their pathogenic effects.

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.

Ataxia-telangiectasia-like disorder (ATLD) is a rare genomic instability syndrome caused by biallelic variants of MRE11 (meiotic recombination 11) characterized by progressive cerebellar ataxia and typical karyotype abnormalities. These symptoms are common to those of ataxia-telangiectasia, which is consistent with the key role of MRE11 in ataxia-telangiectasia mutated (ATM) activation after DNA double-strand breaks. Three unrelated French patients were referred with ataxia.

Genotype-phenotype correlations in ataxia telangiectasia patients with c.3576G>A and c.8147T>C mutations.

Background: Ataxia telangiectasia (A-T) is a neurodegenerative disorder. While patients with classic A-T generally die in their 20s, some patients with variant A-T, who have residual ataxia-telangiectasia mutated (ATM) kinase activity, have a milder phenotype. We noticed two commonly occurring mutations that appeared to be associated with prolonged survival and decided to study patients carrying one of these mutations.

Diagnosis and management of placenta previa and low placental implantation.

To evaluate the migration of low-placental implantation (LPI) during the third trimester of pregnancy and its effect on delivery and post-partum hemorrhage. We conducted a retrospective study at a level 3 maternity center including all cases of placenta previa (PP) and LPI between 1998 and 2014. The distance (d) between cervical internal os (CIO) and placental edge (PE) were measured by vaginal ultrasonography in the third trimester of pregnancy at 32 and 3 weeks after.

ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis.

Next-generation sequencing (NGS) is routinely used for constitutional genetic analysis. However, cross-contamination between samples constitutes a major risk that could impact the results of the analysis. We have developed ART-DeCo, a tool using the allelic ratio (AR) of the Single Nucleotide Polymorphisms sequenced with regions of interest.

The bacterial Mrp is a novel Mrp/NBP35 protein involved in iron-sulfur biogenesis.

Despite recent advances in understanding the biogenesis of iron-sulfur (Fe-S) proteins, most studies focused on aerobic bacteria as model organisms. Accordingly, multiple players have been proposed to participate in the Fe-S delivery step to apo-target proteins, but critical gaps exist in the knowledge of Fe-S proteins biogenesis in anaerobic organisms. Mrp/NBP35 ATP-binding proteins are a subclass of the soluble P-loop containing nucleoside triphosphate hydrolase superfamily (P-loop NTPase) known to bind and transfer Fe-S clusters in vitro.