UNASSIGNED: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that influences structures of ectodermal origin, such as teeth, hair, and sweat glands. Compared with autosomal recessive and dominant modes of inheritance, the X-linked HED (XLHED) characterized by Hypodontia/Oligodontia teeth, Absent/sparse hair, Anhidrosis/hypohidrosis, and characteristic facial features, is the most frequent and its primary cause is the mutation of ectodysplasin A (EDA) gene. This research aimed to expound the clinical and molecular features of a Chinese male with XLHED and to summarize and compare several previous findings.
UNASSIGNED: Genomic DNA was obtained from the peripheral blood of the proband and his family members, then Sanger sequencing was used to perform a mutational analysis of EDA. Real-time quantitative PCR and Western blotting were used to detect EDA expression. The transcriptional activity of NF-κB was detected using a luciferase assay.
UNASSIGNED: The probandwith XLHED was identified a novel EDA mutation, c.1119G>C(p.M373I), that affected the molecular analysis of transmembrane protein exon8 mutations, inherited from the mother. He showed a severe multiple-tooth loss, with over 20 permanent teeth missing and sparse hair and eyebrows, dry, thin, and itching skin. Furthermore, his sweating function was abnormal to a certain extent.
UNASSIGNED: The functional study showed that this novel mutant led to a significant decrease in the EDA expression level and transcriptional activity of NF-κB. Our findings extend the range of EDA mutations in XLHED patients, which provides the basis and idea for further exploring the pathogenesis of XLHED.

This data paper presents a unique multimodal dataset collected from a comprehensive experiment using a wheelchair training simulator. The dataset consists of quantitative and qualitative data that represents the user\'s experience and performance. Participants engaged in a series of navigational tasks in a simulated environment under two distinct system configuration conditions: a. a conventional monitor display and b. a virtual reality (VR) headset. The monitor group has a total of 24 participants data while using the simulator with a standard display and then other two groups of 18 and 16 respectively using the VR headset with a different wheelchair\'s speed profile. It was collected data from total of 58 participants. The dataset includes physiological data - Heart Rate Variability (HRV), Electrodermal Activity (EDA), Acceleration (ACC), Skin Temperature, Heart Rate (HR), and Blood Volume Pulse (BVP) - collected during both experiments. Additionally, for the standard display condition, more detailed data comprising Electroencephalography (EEG) and eye-tracking metrics were recorded to provide insights into cognitive load and visual attention patterns. System metrics captured from the simulator provide an objective performance report, including task completion times, error rates (collision of the virtual wheelchair), number of joystick commands. Also, the navigation efficiency data is complemented by post-experiment questionnaires, which gathered subjective responses on user experience, perceived difficulty, the user immersive levels, arousal, and simulator sickness symptoms. This dataset is valuable for researchers and practitioners in the fields of assistive technology, human-computer interaction, and rehabilitation. It offers metrics to a comprehensive view of how different display technologies influence the user experience in wheelchair simulation training. The data allows for in-depth analysis of physiological responses, cognitive engagement, and subjective perceptions, providing a foundation for future research on effective wheelchair training methodologies and the potential benefits of VR in rehabilitation settings.

Objective: Despite alarming evidence on sexual violence against women, little is known about men\'s emotional responses to rape and how these may be involved in sexual violence dynamics. Accordingly, our aim was to capture how rape scenarios are emotionally appraised. Methods: The current study evaluated men\'s (N = 30) self-reported and psychophysiological emotional responses (facial EMG, electrodermal activity) to a rape scene, and contrasted it with their responses to stimuli depicting nonsexual violence and nonviolent male-female interactions. The associations between men\'s emotional responses and their endorsement of rape myths, personality, and sexual traits were also examined. Results: Findings revealed that the rape scene resulted in higher negative affect, both subjectively and indexed by increased facial EMG (corrugator activity), than the other two stimuli. Additionally, personality traits of neuroticism, lower agreeableness, lower consciousness, psychopathic tendencies, as well as lower sexual inhibition proneness, were all associated with higher subjective sexual arousal toward rape. Conclusions: Findings add to the literature on the putative emotional processes underpinning the appraisal of sexual violence against women.

Hypnosis, a time-honored therapeutic approach, has gained widespread recognition for its effectiveness in addressing a range of psychological and somatic disorders. While its primary effects are mediated by central top-down mechanisms, hypnosis also exerts peripheral influence by modulating the autonomic nervous system (ANS). Psychophysiological measures, such as heart rate (HR) and its variability (HRV), electrodermal activity (EDA), respiratory rate (RR), and the analgesia nociceptive index (ANI), serve as reliable indicators of ANS activity. Studies have consistently demonstrated hypnosis\' ability to significantly impact ANS functions, lowering sympathetic activity and enhancing parasympathetic tone. This effect is particularly pronounced during relaxation procedures and is influenced by mediating factors like hypnotizability and task conditions. Despite methodological limitations, this review highlights the potential of enhanced ANS modulation through hypnosis, including its connections to the central nervous system (CNS), to optimize therapeutic outcomes in patients with psychosomatic disorders associated with ANS dysfunction.

Virtual Reality Exposure Therapy is a method of cognitive behavioural therapy that aids in the treatment of anxiety disorders by making therapy practical and cost-efficient. It also allows for the seamless tailoring of the therapy by using objective, continuous feedback. This feedback can be obtained using biosensors to collect physiological information such as heart rate, electrodermal activity and frontal brain activity. As part of developing our objective feedback framework, we developed a Virtual Reality adaptation of the well-established emotional Stroop Colour-Word Task. We used this adaptation to differentiate three distinct levels of anxiety: no anxiety, mild anxiety and severe anxiety. We tested our environment on twenty-nine participants between the ages of eighteen and sixty-five. After analysing and validating this environment, we used it to create a dataset for further machine-learning classification of the assigned anxiety levels. To apply this information in real-time, all of our information was processed within Virtual Reality. Our Convolutional Neural Network was able to differentiate the anxiety levels with a 75% accuracy using leave-one-out cross-validation. This shows that our system can accurately differentiate between different anxiety levels.

Assessing drivers\' mental workload is crucial for reducing road accidents. This study examined drivers\' mental workload in a simulated auditory-based dual-task driving scenario, with driving tasks as the main task, and auditory-based N-back tasks as the secondary task. A total of three levels of mental workload (i.e., low, medium, high) were manipulated by varying the difficulty levels of the secondary task (i.e., no presence of secondary task, 1-back, 2-back). Multimodal measures, including a set of subjective measures, physiological measures, and behavioral performance measures, were collected during the experiment. The results showed that an increase in task difficulty led to increased subjective ratings of mental workload and a decrease in task performance for the secondary N-back tasks. Significant differences were observed across the different levels of mental workload in multimodal physiological measures, such as delta waves in EEG signals, fixation distance in eye movement signals, time- and frequency-domain measures in ECG signals, and skin conductance in EDA signals. In addition, four driving performance measures related to vehicle velocity and the deviation of pedal input and vehicle position also showed sensitivity to the changes in drivers\' mental workload. The findings from this study can contribute to a comprehensive understanding of effective measures for mental workload assessment in driving scenarios and to the development of smart driving systems for the accurate recognition of drivers\' mental states.

BACKGROUND: The aim of this study was to analyse the differences in the phenotypes of missing teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to investigate the underlying mechanism by comparing the mutated gene loci between the brothers with whole-exome sequencing.
METHODS: The clinical data of the patients and their mother were collected, and genomic DNA was extracted from peripheral blood samples. By Whole-exome sequencing filtered for a minor allele frequency (MAF) ≤0.05 non-synonymous single-nucleotide variations and insertions/deletions variations in genes previously associated with tooth agenesis, and variations considered as potentially pathogenic were assessed by SIFT, Polyphen-2, CADD and ACMG. Sanger sequencing was performed to detect gene variations. The secondary and tertiary structures of the mutated proteins were predicted by PsiPred 4.0 and AlphaFold 2.
RESULTS: Both brothers were clinically diagnosed with HED, but the younger brother had more teeth than the elder brother. An EDA variation (c.878 T > G) was identified in both brothers. Additionally, compound heterozygous variations of WNT10A (c.511C > T and c.637G > A) were identified in the elder brother. Digenic variations in EDA (c.878 T > G) and WNT10A (c.511C > T and c.637G > A) in the same patient have not been reported previously. The secondary structure of the variant WNT10A protein showed changes in the number and position of α-helices and β-folds compared to the wild-type protein. The tertiary structure of the WNT10A variant and molecular simulation docking showed that the site and direction where WNT10A binds to FZD5 was changed.
CONCLUSIONS: Compound heterozygous WNT10A missense variations may exacerbate the number of missing teeth in HED caused by EDA variation.

Individuals with psychopathic personality traits are generally thought to have difficulties in processing and experiencing emotions. These difficulties could also translate to emotionally charged social situations such as social exclusion. Being socially excluded is often experienced as stressful and unpleasant, potentially even leading to selfish or aggressive behavior-both of which are linked to certain aspects of psychopathy. The current study investigated self-report and physiological responses to social exclusion in the cyberball paradigm in a carefully selected community sample of individuals either scoring high on primary (N = 24) or secondary psychopathy traits (N = 17). Across the sample, the cyberball paradigm decreased experiences of joy and approach motivation, increased subjective anger reports, and induced changes in heart rate. In contrast, individuals scoring high on secondary psychopathy traits (Self-Centered Impulsivity group) displayed stronger physiological reactivity during a habituation phase of prolonged social exclusion than individuals scoring high on primary psychopathy traits (Fearless Dominance group), indexed by changes in skin conductance level. Moreover, a potential mismatch between self-reported and physiological arousal seemed to be only observable in individuals with high secondary psychopathy traits. Overall, the current results suggest diverging patterns of emotional processing and regulation in a social exclusion situation when comparing well-functioning individuals with varying psychopathy traits. It seemed as if individuals high on primary psychopathy traits were insensitive to contextual social cues, while individuals high on secondary psychopathy traits were more affected by the potentially threatening social situation. Cautiously transferring the current findings to forensic samples, they support the idea of moving from a behavioral understanding of the psychopathy construct to a more clinical picture with distinct cognitive and emotional processing patterns in individuals high on either primary or secondary psychopathy traits.

The present study investigated the potential of implicit physiological measures to provide objective measures of affective food experience in contrast to explicit self-report ratings in a cross-cultural context. Dutch and Thai participants viewed 120 food images portraying universal food image categories (regular and molded food) and cultural food image categories (typically Dutch and Thai food). The universal food images were taken as ground truth high and low valence stimuli, where we assumed no genuine difference in affective experience between nationalities. In contrast, for the cultural food images, we did expect a genuine difference between nationalities. Participants were asked to rate valence, arousal and liking of each food image. In addition, heart rate (HR) and phasic electrodermal activity (EDA) responses to the images were recorded. Typically Asian and Western response biases were found for explicit ratings of regular and molded food with an extreme response style for Dutch, and a middle response style for Thai participants. However, such bias was not observed in HR. For cultural food image categories, HR showed the hypothesized interaction between participant nationality and food image category, reflecting the expected genuine difference between nationalities in affective food experience. Besides presenting participants with images, we also asked participants to taste typically Thai and Dutch drinks. Similar to images, a significant interaction between participant nationality and cultural food category was found for HR. An interaction was also found for sip size, while this was not seen in explicit measures. We attribute this to differences in the moment that these measures were taken. In this study, phasic EDA did not appear to be a sensitive measure of affective food experience, possibly since stimuli mostly differed in valence rather than arousal. To conclude, our study constitutes an example where cultural bias negatively affected the accuracy of self-reports, and only the implicit physiological measures followed the prior expectations of genuine food experience, indicating the potential of these measures to study cross-cultural food experience.

UNASSIGNED: To analyse the pathogenic genes in a patient with hypohidrotic ectodermal dysplasia (HED) and explore the relationship between pathogenic genes and the oligodontia phenotype.
UNASSIGNED: Clinical data and peripheral blood were collected from a patient with HED. Pathogenic genes were analysed by whole-exon sequencing (WES) and verified by Singer sequencing. The secondary and tertiary structures of the variant proteins were predicted to analyse their toxicity.
UNASSIGNED: The patient exhibited a severe oligodontia phenotype, wherein only two deciduous canines were left in the upper jaw. WES revealed a hemizygous EDA variant c.466C > T p.(Arg156Cys) and a novel heterozygous EVC2 variant c.1772T > C p.(Leu591Ser). Prediction of the secondary and tertiary structures of the EDA variant p.(Arg156Cys) and EVC2 variant p.(Leu591Ser) indicated impaired function of both molecules.
UNASSIGNED: The patient demonstrated a more severe oligodontia phenotype when compared with the other patients caused by the EDA variant c.466C > T. Since Evc2 is a positive regulator of the Sonic Hedgehog (Shh) signal pathway, we speculated that the EVC2 variant p.(Leu591Ser) may play a synergistic role in the oligodontia phenotype of HED, thereby exacerbating the oligodontia phenotype. Knowledge of oligodontia caused by multiple gene variants is of great significance for understanding individual differences in oligodontia phenotypes.