Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we have considerably expanded our MRLS cohort to a total of 18 probands (16 males and 2 females). Segregation analyses identified 36 additional BGN variant-harboring family members (9 males and 27 females).

Complexities related to the amorphous content of lactose carriers.

Although the amount of amorphous content in lactose is low, its impact on the performance of a dry powder inhalation formulation might be high. Many formulators and regulatory agencies believe that the levels of amorphous content should be controlled once there is a relationship with the final product performance. This is however not an easy task.

Is beta in agreement with the relatives? Using relative clause sentences to investigate MEG beta power dynamics during sentence comprehension.

There remains some debate about whether beta power effects observed during sentence comprehension reflect ongoing syntactic unification operations (beta-syntax hypothesis), or instead reflect maintenance or updating of the sentence-level representation (beta-maintenance hypothesis). In this study, we used magnetoencephalography to investigate beta power neural dynamics while participants read relative clause sentences that were initially ambiguous between a subject- or an object-relative reading. An additional condition included a grammatical violation at the disambiguation point in the relative clause sentences.

Neural responses to facial attractiveness: Event-related potentials differentiate between salience and valence effects.

We examined the neural correlates of facial attractiveness by presenting pictures of male or female faces (neutral expression) with low/intermediate/high attractiveness to 48 male or female participants while recording their electroencephalogram (EEG). Subjective attractiveness ratings were used to determine the 10% highest, 10% middlemost, and 10% lowest rated faces for each individual participant to allow for high contrast comparisons. These were then split into preferred and dispreferred gender categories.

Smart Specification Setting for Dry Powder Inhalation Carriers.

The specifications of excipients are important to pharmaceutical manufacturers to ensure that the final product can be manufactured robustly over the entire lifecycle of a drug product. Particle size specifications are key for dry powder inhalation excipients and they should be agreed between users and suppliers. The current paper evaluates two development strategies to set particle size specifications.

Decoding the neural responses to experiencing disgust and sadness.

Being able to classify experienced emotions by identifying distinct neural responses has tremendous value in both fundamental research (e.g. positive psychology, emotion regulation theory) and in applied settings (clinical, healthcare, commercial).

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Purpose: CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled histone modification through promoting H3K4 and H3K36 methylation. We describe the clinical and molecular studies in 13 probands, harboring likely pathogenic CTR9 missense variants, collected through GeneMatcher.

On the Neuronal Dynamics of Aesthetic Experience: Evidence from Electroencephalographic Oscillatory Dynamics.

Aesthetic experiences have an influence on many aspects of life. Interest in the neural basis of aesthetic experiences has grown rapidly in the past decade, and fMRI studies have identified several brain systems supporting aesthetic experiences. Work on the rapid neuronal dynamics of aesthetic experience, however, is relatively scarce.

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-β protein family that translocates cargo molecules such as proteins, RNAs, and ribonucleoprotein complexes into the nucleus in a RanGTP-dependent manner. Current knowledge of the cargoes of importin 8 is limited, but TGF-β signaling components such as SMAD1-4 have been suggested to be among them. Here, we report that bi-allelic loss-of-function variants in IPO8 cause a syndromic form of thoracic aortic aneurysm (TAA) with clinical overlap with Loeys-Dietz and Shprintzen-Goldberg syndromes.

Are alpha oscillations instrumental in multisensory synchrony perception?

Different inputs from a multisensory object or event are often integrated into a coherent and unitary percept, despite differences in sensory formats, neural pathways, and processing times of the involved modalities. Presumably, multisensory integration occurs if the cross-modal inputs are presented within a certain window of temporal integration where inputs are perceived as being simultaneous. Here, we examine the role of ongoing neuronal alpha (i.

From Experience to Memory: On the Robustness of the Peak-and-End-Rule for Complex, Heterogeneous Experiences.

Memory forms the input for future behavior. Therefore, how individuals a certain experience may be just as important as the experience itself. The peak-and-end-rule (PE-rule) postulates that remembered experiences are best predicted by the peak emotional valence and the emotional valence at the end of an experience in the here and now.

Assessing the utility of frequency tagging for tracking memory-based reactivation of word representations.

Reinstatement of memory-related neural activity measured with high temporal precision potentially provides a useful index for real-time monitoring of the timing of activation of memory content during cognitive processing. The utility of such an index extends to any situation where one is interested in the (relative) timing of activation of different sources of information in memory, a paradigm case of which is tracking lexical activation during language processing. Essential for this approach is that memory reinstatement effects are robust, so that their absence (in the average) definitively indicates that no lexical activation is present.

Control adjustments in speaking: Electrophysiology of the Gratton effect in picture naming.

Accumulating evidence suggests that spoken word production requires different amounts of top-down control depending on the prevailing circumstances. For example, during Stroop-like tasks, the interference in response time (RT) is typically larger following congruent trials than following incongruent trials. This effect is called the Gratton effect, and has been taken to reflect top-down control adjustments based on the previous trial type.

Using Brain Potentials to Functionally Localise Stroop-Like Effects in Colour and Picture Naming: Perceptual Encoding versus Word Planning.

The colour-word Stroop task and the picture-word interference task (PWI) have been used extensively to study the functional processes underlying spoken word production. One of the consistent behavioural effects in both tasks is the Stroop-like effect: The reaction time (RT) is longer on incongruent trials than on congruent trials. The effect in the Stroop task is usually linked to word planning, whereas the effect in the PWI task is associated with either word planning or perceptual encoding.

A Predictive Coding Perspective on Beta Oscillations during Sentence-Level Language Comprehension.

Oscillatory neural dynamics have been steadily receiving more attention as a robust and temporally precise signature of network activity related to language processing. We have recently proposed that oscillatory dynamics in the beta and gamma frequency ranges measured during sentence-level comprehension might be best explained from a predictive coding perspective. Under our proposal we related beta oscillations to both the maintenance/change of the neural network configuration responsible for the construction and representation of sentence-level meaning, and to top-down predictions about upcoming linguistic input based on that sentence-level meaning.

Three-dimensional Cervical Movement Characteristics in Healthy Subjects and Subgroups of Chronic Neck Pain Patients Based on Their Pain Location.

Study Design: A cross-sectional observational study of three-dimensional (3D) cervical kinematics in 41 chronic neck pain (CNPs) patients and 156 asymptomatic controls.

Objective: The objective was to investigate 3D cervical kinematics by analyzing and comparing quantitative and qualitative parameters in healthy subjects and CNPs. Furthermore, subgroups were formed to explore the influence of pain-location on cervical kinematics.

Frequency-based Segregation of Syntactic and Semantic Unification during Online Sentence Level Language Comprehension.

During sentence level language comprehension, semantic and syntactic unification are functionally distinct operations. Nevertheless, both recruit roughly the same brain areas (spatially overlapping networks in the left frontotemporal cortex) and happen at the same time (in the first few hundred milliseconds after word onset). We tested the hypothesis that semantic and syntactic unification are segregated by means of neuronal synchronization of the functionally relevant networks in different frequency ranges: gamma (40 Hz and up) for semantic unification and lower beta (10-20 Hz) for syntactic unification.

A predictive coding framework for rapid neural dynamics during sentence-level language comprehension.

There is a growing literature investigating the relationship between oscillatory neural dynamics measured using electroencephalography (EEG) and/or magnetoencephalography (MEG), and sentence-level language comprehension. Recent proposals have suggested a strong link between predictive coding accounts of the hierarchical flow of information in the brain, and oscillatory neural dynamics in the beta and gamma frequency ranges. We propose that findings relating beta and gamma oscillations to sentence-level language comprehension might be unified under such a predictive coding account.

The influence of emotional salience on the integration of person names into context.

Previous event-related potentials (ERP) studies on the processing of emotional information in sentence/discourse context have yielded inconsistent findings. An important reason for the discrepancies is the different lexico-semantic properties of the emotional words. The present study controlled for the lexico-semantic meaning of emotional information by endowing the same person names with either positive or negative valence.

Fast oscillatory dynamics during language comprehension: Unification versus maintenance and prediction?

The role of neuronal oscillations during language comprehension is not yet well understood. In this paper we review and reinterpret the functional roles of beta- and gamma-band oscillatory activity during language comprehension at the sentence and discourse level. We discuss the evidence in favor of a role for beta and gamma in unification (the unification hypothesis), and in light of mounting evidence that cannot be accounted for under this hypothesis, we explore an alternative proposal linking beta and gamma oscillations to maintenance and prediction (respectively) during language comprehension.

Brain dynamics in the comprehension of action-related language. A time-frequency analysis of mu rhythms.

EEG mu rhythms (8-13 Hz) recorded at fronto-central electrodes are generally considered as markers of motor cortical activity in humans, because they are modulated when participants perform an action, when they observe another's action or even when they imagine performing an action. In this study, we analyzed the time-frequency (TF) modulation of mu rhythms while participants read action language ("You will cut the strawberry cake"), abstract language ("You will doubt the patient's argument"), and perceptive language ("You will notice the bright day"). The results indicated that mu suppression at fronto-central sites is associated with action language rather than with abstract or perceptive language.

Oscillatory brain dynamics associated with the automatic processing of emotion in words.

This study examines the automaticity of processing the emotional aspects of words, and characterizes the oscillatory brain dynamics that accompany this automatic processing. Participants read emotionally negative, neutral and positive nouns while performing a color detection task in which only perceptual-level analysis was required. Event-related potentials and time frequency representations were computed from the concurrently measured EEG.

ERP responses to person names as a measure of trait inference in person perception.

Using event-related potentials (ERPs), this study examines how trait information inferred from behaviors is associated with person names. In linguistic discourses, person names were associated with descriptions of either positive or negative behaviors. In a subsequent explicit evaluation task, the previously described person names were presented in isolation, and the participants were asked to judge the emotional valence of these names.

Early anticipation lies behind the speed of response in conversation.

RTs in conversation, with average gaps of 200 msec and often less, beat standard RTs, despite the complexity of response and the lag in speech production (600 msec or more). This can only be achieved by anticipation of timing and content of turns in conversation, about which little is known. Using EEG and an experimental task with conversational stimuli, we show that estimation of turn durations are based on anticipating the way the turn would be completed.

Sit down and read on: working memory and long-term memory in particle-verb processing.

Particle verbs (e.g., look up) are lexical items for which particle and verb share a single lexical entry.