Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center.

Objective: The balance between benefits and risks of discordant outcomes makes the Genome-Wide Non-Invasive Prenatal Test (GW-NIPT) controversial. This study aims to evaluate performance and clinical utility in a wide cohort of unselected clinical cases from a single center when a standardized protocol is applied and integrated with a secondary algorithm for data interpretation.

Method: In 2 years, over 70,000 pregnant patients underwent GW-NIPT for fetal common trisomies, sex chromosome aneuploidies, rare autosomal aneuploidies, segmental abnormalities (CNVs ≥ 7 Mb) and microdeletions (CNVs < 7 Mb).

Simultaneous oscillatory encoding of "hot" and "cold" information during social interactions in the monkey medial prefrontal cortex.

Social interactions in primates require social cognition abilities such as anticipating the partner's future choices as well as pure cognitive skills involving processing task-relevant information. The medial prefrontal cortex (mPFC) has been implicated in these cognitive processes. Here, we investigated the neural oscillations underlying the complex social behaviors involving the interplay of social roles (Actor vs.

Attractor dynamics reflect decision confidence in macaque prefrontal cortex.

Decisions are made with different degrees of consistency, and this consistency can be linked to the confidence that the best choice has been made. Theoretical work suggests that attractor dynamics in networks can account for choice consistency, but how this is implemented in the brain remains unclear. Here, we provide evidence that the energy landscape around attractor basins in population neural activity in prefrontal cortex reflects choice consistency.

Attractor dynamics reflect decision confidence in macaque prefrontal cortex.

Decisions are made with different degrees of consistency, and this consistency can be linked to the confidence that the best choice has been made. Theoretical work suggests that attractor dynamics in networks can account for choice consistency, but how this is implemented in the brain remains unclear. Here we provide evidence that the energy landscape around attractor basins in population neural activity in the prefrontal cortex reflects choice consistency.

Neural representation of others during action observation in posterior medial prefrontal cortex.

Making decisions based on the actions of others is critical to daily interpersonal interactions. We investigated the representations of other's actions at single neural level in posterior medial prefrontal cortex (pmPFC) in two monkeys during the observation of actions of another agent, in a social interaction task. Each monkey separately interacted with a human partner.

Dedicated Representation of Others in the Macaque Frontal Cortex: From Action Monitoring and Prediction to Outcome Evaluation.

Social neurophysiology has increasingly addressed how several aspects of self and other are distinctly represented in the brain. In social interactions, the self-other distinction is fundamental for discriminating one's own actions, intentions, and outcomes from those that originate in the external world. In this paper, we review neurophysiological experiments using nonhuman primates that shed light on the importance of the self-other distinction, focusing mainly on the frontal cortex.

RNAi and chemogenetic reporter co-regulation in primate striatal interneurons.

Using genetic tools to study the functional roles of molecularly specified neuronal populations in the primate brain is challenging, primarily because of specificity and verification of virus-mediated targeting. Here, we report a lentivirus-based system that helps improve specificity and verification by (a) targeting a selected molecular mechanism, (b) in vivo reporting of expression, and (c) allowing the option to independently silence all regional neural activity. Specifically, we modulate cholinergic signaling of striatal interneurons by shRNAmir and pair it with hM4Di_CFP, a chemogenetic receptor that can function as an in vivo and in situ reporter.

Temporal Coding of Reward Value in Monkey Ventral Striatal Tonically Active Neurons.

The rostromedioventral striatum is critical for behavior dependent on evaluating rewards. We asked what contribution tonically active neurons (TANs), the putative striatal cholinergic interneurons, make in coding reward value in this part of the striatum. Two female monkeys were given the option to accept or reject an offered reward in each trial, the value of which was signaled by a visual cue.

Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry.

Background: Identification of predictive molecular alterations in lung adenocarcinoma is essential for accurate therapeutic decisions. Although several molecular approaches are available, a number of issues, including tumor heterogeneity, frequent material scarcity, and the large number of loci to be investigated, must be taken into account in selecting the most appropriate technique. MALDI-TOF mass spectrometry (MS), which allows multiplexed genotyping, has been adopted in routine diagnostics as a sensitive, reliable, fast, and cost-effective method.

Neural activity in macaque medial frontal cortex represents others' choices.

Predicting the behavior of others is a fundamental skill in primate social life. We tested the role of medial frontal cortex in the prediction of other agents' behavior in two male macaques, using a monkey-human interactive task in which their actor-observer roles were intermixed. In every trial, the observer monitored the actor's choice to reject it for a different one when he became the actor on the subsequent trial.

MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion.

Several molecular markers drive diagnostic classification, prognostic stratification, and/or prediction of response to therapy in patients with gliomas. Among them, IDH gene mutations are valuable markers for defining subtypes and are strongly associated with epigenetic silencing of the methylguanine DNA methyltransferase (MGMT) gene. However, little is known about the percentage of MGMT-methylated alleles in IDH-mutated cells or the potential association between MGMT methylation and deletion of chromosome 10q, which encompasses the MGMT locus.

Neural Encoding of Self and Another Agent's Goal in the Primate Prefrontal Cortex: Human-Monkey Interactions.

The primate prefrontal cortex represents both past and future goals. To investigate its role in representing the goals of other agents, we designed a nonmatch-to-goal task that involved a human-monkey (H-M) interaction. During each trial, 2 of 4 potential goal objects were presented randomly to the left or right part of a display screen, and the monkey's (or human's) task was to choose the one that did not match the object goal previously chosen.

PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis.

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterised by the clonal proliferation of the haematopoietic precursors together with the progressive development of bone marrow fibrosis. This stromal alteration is an important clinical issue and specific prognostic markers are not currently available. In bone marrow biopsies from 58 PMF patients, we explored the methylation pattern of genes encoding cytokines involved in the stromal reaction, namely platelet-derived growth factor-beta (PDGFB), transforming growth factor-beta (TGFB) and basic fibroblast growth factor (FGF2).

ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men.

Study Question: Is the presence of ESX1 mRNA in seminal fluid (SF) an indicator of residual spermatogenesis in men with non-obstructive azoospermic (NOA)?

Summary Answer: ESX1 mRNA in SF is a suitable molecular marker for predicting the presence of residual spermatogenesis in testis.

What Is Known Already: ESX1 is an X-linked homeobox gene whose expression in testis is restricted to germ cells. We previously reported, in the testicular biopsies from azoospermic men, a positive correlation between the presence of ESX1 mRNA and residual spermatogenesis.

Autonomous encoding of irrelevant goals and outcomes by prefrontal cortex neurons.

Two rhesus monkeys performed a distance discrimination task in which they reported whether a red square or a blue circle had appeared farther from a fixed reference point. Because a new pair of distances was chosen randomly on each trial, and because the monkeys had no opportunity to correct errors, no information from the previous trial was relevant to a current one. Nevertheless, many prefrontal cortex neurons encoded the outcome of the previous trial on current trials.

Transfer of the nonmatch-to-goal rule in monkeys across cognitive domains.

To solve novel problems, it is advantageous to abstract relevant information from past experience to transfer on related problems. To study whether macaque monkeys were able to transfer an abstract rule across cognitive domains, we trained two monkeys on a nonmatch-to-goal (NMTG) task. In the object version of the task (O-NMTG), the monkeys were required to choose between two object-like stimuli, which differed either only in shape or in shape and color.

Macaque monkeys can learn token values from human models through vicarious reward.

Monkeys can learn the symbolic meaning of tokens, and exchange them to get a reward. Monkeys can also learn the symbolic value of a token by observing conspecifics but it is not clear if they can learn passively by observing other actors, e.g.

Gaze orientation interferes with mental numerical representation.

Number comparison tasks are characterized by distance and size effects. The distance effect reveals that the higher the distance is between two numbers, the easier their magnitude comparison is. Accordingly, people are thought to represent numbers on a spatial dimension, the mental number line, on which any given number corresponds to a location on the line.

Vicarious learning from human models in monkeys.

We examined whether monkeys can learn by observing a human model, through vicarious learning. Two monkeys observed a human model demonstrating an object-reward association and consuming food found underneath an object. The monkeys observed human models as they solved more than 30 learning problems.

Monkeys monitor human goals in a nonmatch-to-goal interactive task.

We designed a new task, called nonmatch-to-goal, to study the ability of macaque monkeys to interact with humans in a rule-guided paradigm. In this task the monkeys were required to choose one of two targets, from a list of three. For each choice, they were required to switch from their choice on the previous trial to a different one.