Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy.

•DEPDC-5 is a negative regulator of the mTOR pathway.•DEPDC-5 mutations can cause sleep-related hypermotor epilepsy.•Drug-refractory epilepsy is common in this cohort.•Carbamazepine-responsiveness in DEPDC-5-related epilepsy is described here.

The 2017 and 2022 ILAE epilepsy classification systems identify needs and opportunities in care: A paediatric hospital-based study.

OBJECTIVES: There is a paucity of studies reporting the epilepsy spectrum using the 2017 and 2022 ILAE classification systems in everyday clinical practice. To identify gaps and opportunities in care we evaluated a hospital-based cohort applying these epilepsy classification systems, including aetiology and co-morbidity, and the utility of molecular genetic diagnosis to identify available precision therapies. METHODS: Cross sectional retrospective study of all children with epilepsy (≤16 years) attending University Hospital Galway (2017-2022). Data collection and analysis of each case was standardised to ensure a systematic approach and application of the recent ILAE categorisation and terminology (2017 and 2022). Ethics approval was obtained. RESULTS: Among 356 children, epilepsy was classified as focal (46.1 %), generalised (38.8 %), combined (6.2 %), and unknown (9 %). Epilepsy syndrome was determined in 145/356 (40.7 %), comprising 24 different syndromes, most commonly SeLECTS (9 %), CAE (7 %), JAE (6.2 %) and IESS (5.9 %). New aetiology-specific syndromes were identified (e.g. CDKL5-DEE). Molecular diagnosis was confirmed in 19.9 % (n = 71) which encompassed monogenic (13.8 %) and chromosomopathy/CNV (6.2 %). There was an additional 35.7 % (n = 127) of patients who had a presumed genetic aetiology of epilepsy. Remaining aetiology included structural (18.8 %, n = 67), infectious (2 %, n = 7), metabolic (1.7 %, n = 6) and unknown (30.3 %, n = 108). Encephalopathy categorisation was determined in 182 patients (DE in 38.8 %; DEE in a further 11.8 %) associated with a range of co-morbidities categorised as global delay (29.2 %, n = 104), severe neurological impairment (16.3 %, n = 58), and ASD (14.6 %, n = 52). Molecular-based "precision therapy" was deemed available in 21/356 (5.9 %) patients, with "molecular precision" approach utilised in 13/356 (3.7 %), and some benefit noted in 6/356 (1.7 %) of overall cohort or 6/71 (8.5 %) of the molecular cohort. CONCLUSION: Applying the latest ILAE epilepsy classification systems allow comparison across settings and identifies a major neuro-developmental co-morbidity rate and a large genetic aetiology. We identified very few meaningful molecular-based disease modifying "precision therapies". There is a monumental gap between aetiological identification, and impact of meaningful therapies, thus the new 2017/2022 classification clearly identifies the major challenges in the provision of routine epilepsy care.

Tracking COVID-19 vaccination expectancies and vaccination refusal in the United States.

To identify factors that predict COVID-19 vaccination refusal and show how expectancies affect vaccination acceptance for non-vaccinated adults, we used a monthly repeated cross-sectional sample from June/2021 to October/2021 to collect data on vaccination behaviors and predictor variables for 2,116 US adults over 50 years of age. Selection bias modeling - which is required when data availability is a result of behavioral choice - predicts two outcomes: (1) no vaccination vs. vaccination for the entire sample and (2) the effects of expectancy indices predicting vaccination Refuser vs. vaccination Accepters for the unvaccinated group. Vaccine refusers were younger and less educated, endorsed common misconceptions about the COVID-19 epidemic, and were Black. Vaccination expectancies were related to vaccination refusal in the unvaccinated eligible group: negative expectancies increased vaccine refusal, while positive expectancies decreased it. We conclude that behavior-related expectancies (as opposed to more stable psychological traits) are important to identify because they are often modifiable and provide a point of intervention, not just for COVID-19 vaccination acceptance but also for other positive health behaviors.

Evaluating and Tracking Qualitative Content Coder Performance Using Item Response Theory.

Content analysis of traditional and social media has a central role in investigating features of media content, measuring media exposure, and calculating calculation of media effects. The reliability of content coding is usually evaluated using "Kappa-like" agreement measures, but these measures produce results that aggregate individual coder decisions, which obscure the performance of individual coders. Using a data set of 105 advertisements for sports and energy drinks media content coded by five coders, we demonstrate that Item Response Theory can track coder performance over time and give coder-specific information on the consistency of decisions over qualitatively coded objects. We conclude that IRT should be added to content analysts' tool kit of useful methodologies to track and measure content coders' performance.

Examination of the role of adrenergic receptor stimulation in the sensitization of neuroinflammatory-based depressive-like behavior in isolated Guinea pig pups.

Early-life attachment disruption appears to sensitize neuroinflammatory signaling to increase later vulnerability for stress-related mental disorders, including depression. How stress initiates this process is unknown, but studies with adult rats and mice suggest sympathetic nervous system activation and/or cortisol elevations during the early stress are key. Guinea pig pups isolated from their mothers exhibit an initial active behavioral phase characterized by anxiety-like vocalizing. This is followed by inflammatory-dependent depressive-like behavior and fever that sensitize on repeated isolation. Using strategies that have been successful in adult studies, we assessed whether sympathetic nervous system activity and cortisol contributed to the sensitization process in guinea pig pups. In Experiment 1, the adrenergic agonist ephedrine (3 or 10 mg/kg), either alone or with cortisol (2.5 mg/kg), did not increase depressive-like behavior or fever during initial isolation the following day as might have been expected to if this stimulation was sufficient to account for the sensitization process. In Experiment 2, both depressive-like behavior and fever sensitized with repeated isolation, but beta-adrenergic receptor blockade with propranolol (10 or 20 mg/kg) did not affect either of these responses or their sensitization. The high dose of propranolol did, however, reduce vocalizing. These results suggest sympathetic nervous system activation is neither necessary nor sufficient to induce the presumptive neuroinflammatory signaling underlying sensitization of depressive-like behavioral or febrile responses in developing guinea pigs. Thus, processes mediating sensitization of neuroinflammatory-based depressive-like behavior following early-life attachment disruption in this model appear to differ from those previously found to underlie neuroinflammatory priming in adults.

How intention to join an Alzheimer's participant recruitment registry differs by race, ethnicity, sex, and family history: Results from a national survey of US adults.

INTRODUCTION: Alzheimer's-focused participant recruitment registries are tools for accelerating enrollment into studies, however, registry members are primarily White women. METHODS: We conducted a national online survey of 1501 adults ages 50-80, oversampling for Black and Hispanic/Latino respondents, assessing intention to join a generic "brain health" registry and to join a registry that required specific tasks. RESULTS: Intention to join a registry was low (M 3.48, SD 1.77), and lower than intention to join a registry requiring specific tasks. Intention was greatest for registries requiring completing surveys (M 4.70, SD 1.77). Differences in intention were primarily between White women and Black women; differences between other groups were limited to specific tasks required. DISCUSSION: The results indicate uncertainty about what a registry is, its purpose, and/or the concept of "brain health." Using the Reasoned Action Approach (RAA) to develop evidence-based outreach messages describing a registry and required tasks may increase diversity.

Reducing Unhealthy Normative Behavior: The Case of Sports and Energy Drinks.

American adolescents consume more sugar-sweetened beverages (SSBs) than any other age group. Sports and energy drinks consumption among adolescents is higher than other SSBs. For sports drinks, there is uncertainty about their "healthiness" and also beliefs that these drinks may provide health benefits such as hydration, enhanced athletic performance, heightened mental alertness, and rapid recovery after exercise. Confusion about relative healthiness and expectations of health benefits suggest that factors that may encourage youth to avoid drinking sports and energy drinks, such as athletic status, psychological reactance, and SSB media literacy, may necessitate different approaches to promoting avoidance of sports drinks compared with avoidance of energy drinks. Using a nationally representative U.S. probability-based web panel augmented by a volunteer nonprobability-based web panel of 500 adolescent participants aged 14 to 18 years, we used the reasoned action approach to model intention to avoid sports and to avoid energy drinks. The result show there are similarities and differences in the determinants associated with adolescents' avoidance of sports and energy drinks: attitudes and descriptive normative pressure are both related to increased avoidance for both types of drinks and perceived control over the avoidance behavior is positively associated for with intention to avoid for energy drinks. Sport identification, psychological reactance, and SSB media literacy also play a different role in the sports and energy drink models. Based on our results, the content of prevention messages in interventions to limit sports drinks will need to be quite different from those targeted at reducing energy drink consumption.

Athletes Drink Gatorade: DMA Advertising Expenditures, Ad Recall, and Athletic Identity Influence Energy and Sports Drink Consumption.

Understanding why sports and energy drinks remain increasingly popular among adolescents despite declines in other sugar sweetened beverages is critical. This study points to memory for advertising exposure and adolescent athletic identity as two aspects that together help to explain consumption. An online survey of U.S. adolescents aged 14-18 (n = 503) was combined with Nielsen data for television and social media advertising expenditures by sports and energy drink brands in participants' designated market areas (DMAs). Advertisement recall mediates the relationship between social media DMA expenditures and sports and energy drink consumption. Recall for television advertisements is related to consumption but is unrelated to television DMA expenditures. Athletic identity moderated the relationship between recall and consumption such that consumption increased as both recall and athletic identity increased, suggesting a role for motivated memory and motivated processing of ad messages based on athletic identity consistent with the limited capacity model of motivated media message processing. Based on these results, we conclude that effectiveness of expenditures in influencing behavior is dependent upon both ad recall and ad relevance, and that athletic identity is an important factor in ad effectiveness in the context of sports and energy drinks advertising.

Quantification of Ion-Implanted Single-Atom Dopants in Monolayer MoS2 via HAADF STEM Using the TEMUL Toolkit.

In recent years, atomic resolution imaging of two-dimensional (2D) materials using scanning transmission electron microscopy (STEM) has become routine. Individual dopant atoms in 2D materials can be located and identified using their contrast in annular dark-field (ADF) STEM. However, in order to understand the effect of these dopant atoms on the host material, there is now the need to locate and quantify them on a larger scale. In this work, we analyze STEM images of MoS2 monolayers that have been ion-implanted with chromium at ultra-low energies. We use functions from the open-source TEMUL Toolkit to create and refine an atomic model of an experimental image based on the positions and intensities of the atomic columns in the image. We then use the refined model to determine the likely composition of each atomic site. Surface contamination stemming from the sample preparation of 2D materials can prevent accurate quantitative identification of individual atoms. We disregard atomic sites from regions of the image with hydrocarbon surface contamination to demonstrate that images acquired using contaminated samples can give significant atom statistics from their clean regions, and can be used to calculate the retention rate of the implanted ions within the host lattice. We find that some of the implanted chromium ions have been successfully integrated into the MoS2 lattice, with 4.1% of molybdenum atoms in the transition metal sublattice replaced with chromium.

TopoTEM: A Python Package for Quantifying and Visualizing Scanning Transmission Electron Microscopy Data of Polar Topologies.

The exotic internal structure of polar topologies in multiferroic materials offers a rich landscape for materials science research. As the spatial scale of these entities is often subatomic in nature, aberration-corrected transmission electron microscopy (TEM) is the ideal characterization technique. Software to quantify and visualize the slight shifts in atomic placement within unit cells is of paramount importance due to the now routine acquisition of images at such resolution. In the previous ~decade since the commercialization of aberration-corrected TEM, many research groups have written their own code to visualize these polar entities. More recently, open-access Python packages have been developed for the purpose of TEM atomic position quantification. Building on these packages, we introduce the TEMUL Toolkit: a Python package for analysis and visualization of atomic resolution images. Here, we focus specifically on the TopoTEM module of the toolkit where we show an easy to follow, streamlined version of calculating the atomic displacements relative to the surrounding lattice and thus plotting polarization. We hope this toolkit will benefit the rapidly expanding field of topology-based nano-electronic and quantum materials research, and we invite the electron microscopy community to contribute to this open-access project.

A content analysis of sports and energy drink advertising.

This study identifies constructs from key persuasion theories that are present in popular sports and energy drink advertising. A theory-driven content analysis was conducted on 315 popular television and social media sports and energy drink advertisements from top selling brands. The advertisements were analyzed for the presence of persuasive cues as per the Elaboration Likelihood Model (e.g, onscreen consumption, presence of celebrities) as well as Reasoned Action behavioral expectancies and normative beliefs Approach related to consumption. Descriptive statistics were calculated. Differences between sports and energy drinks were assessed and reliability statistics for all codes were calculated. Advertisements relied on peripheral cues like sports and celebrities that were not related to the drinks themselves. Theory-relevant beliefs about improved athletic performance and consumption of the drinks onscreen were common. Sports drinks were more likely to focus on mainstream sports; energy drinks featured extreme sports, and energy drink advertisements promoted the drinks for use beyond sports (e.g., work settings). The cues and beliefs identified in these ads help to clarify the role of advertising in beliefs about sports drinks being healthy and energy drinks being helpful to achieve goals. Future research is needed that links exposure to coded advertisement features to adolescents' beliefs about sports and energy drinks.

Sensitization of depressive-like behavior is attenuated by disruption of prostaglandin synthesis days following brief early attachment-figure isolation.

Childhood psychological trauma appears to sensitize stress-related neuroinflammatory systems to increase later vulnerability for depression and other stress-related mental disorders. Isolation of guinea pig pups from the maternal attachment figure for 3 h in threatening surroundings leads to a sensitization of inflammatory-mediated, depressive-like behavior and fever during later isolations. A previous study found the non-selective COX inhibitor naproxen administered before the initial isolation moderated depressive-like behavior and its sensitization. Here, we examined effects of naproxen given following early isolation. Male and female guinea pig pups surgically implanted with telemetry devices to measure core temperature were isolated for 3 h on 2 consecutive days near weaning (first isolation Day 20-24). Several days later, they began 4 consecutive days of injection with either saline vehicle or 10 or 20 mg/kg naproxen prior to a third isolation in early adolescence, that is, 10 days after their first isolation. Across the first two isolations, depressive-like behavior and fever sensitized. Both doses of naproxen attenuated depressive-like behavior during the third isolation. Fever was unaffected. Results suggest prostaglandin mediation of sensitization of depressive-like behavioral, but not febrile, responses to subsequent isolation. Findings also support further study of anti-inflammatory treatments to mitigate lasting consequences of early-attachment disruption.

Psychosocial Determinants of COVID-19 Vaccination Intention Among White, Black, and Hispanic Adults in the US.

BACKGROUND: COVID-19 vaccine uptake is an urgent public health priority. PURPOSE: To identify psychosocial determinants (attitudes, normative pressure, and perceived behavioral control) of COVID-19 vaccination intentions for U.S. White, Black, and Hispanic adults, and how COVID-19 misperceptions, beliefs about the value of science, and perceived media bias relate to these determinants. METHODS: Longitudinal online survey using two national samples (18-49 years old/50 years and older), each stratified by racial/ethnic group (n = 3,190). Data were collected in October/November 2020 and were weighted by race group to be representative. RESULTS: Path analyses showed that more positive attitudes about getting vaccinated predict intention across age and racial/ethnic groups, but normative pressure is relevant among older adults only. Belief in the value of science was positively associated with most determinants across all groups, however the association of COVID-19 misperceptions and perceived media bias with the determinants varied by age group. CONCLUSIONS: Messages that emphasize attitudes toward vaccination can be targeted to all age and racial/ethnic groups, and positive attitudes are universally related to a belief in the value of science. The varying role of normative pressure poses messages design challenges to increase vaccination acceptance.

Review of referrals reveal the impact of referral content on the triage and management of ophthalmology wait lists.

OBJECTIVES: Many chronic eye conditions are managed within public hospital ophthalmology clinics resulting in encumbered wait lists. Integrated care schemes can increase system capacity. In order to direct implementation of a public hospital-based integrated eye care model, this study aims to evaluate the quality of referrals for new patients through information content, assess triage decisions of newly referred patients and evaluate the consistency of referral content for new patients referred multiple times. DESIGN: A retrospective and prospective review of all referral forms for new patients referred to a public hospital ophthalmology clinic between January 2016 and September 2017, and September 2017 and August 2018, respectively. SETTING: A referral-only public hospital ophthalmology clinic in metropolitan Sydney, Australia. PARTICIPANTS: 418 new patients on existing non-urgent wait lists waiting to be allocated an initial appointment, and 528 patients who were newly referred. PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome was the information content of referrals for new patients. The secondary outcomes were triage outcomes for new incoming referrals, and the number of new patients with multiple referrals. RESULTS: Of the wait-listed referrals, 0.2% were complete in referral content compared with 9.8% of new incoming referrals (p<0.001). Of new incoming referrals, 56.7% were triaged to a non-urgent clinic. Multiple referrals were received for 49 patients, with no change in the amount of referral content. CONCLUSIONS: Most referrals were incomplete in content, leading to triage based on limited clinical information. Some new patients were referred multiple times with their second referral containing a similar amount of content as their first. Lengthy wait lists could be prevented by improving administrative processes and communication between the referral centre and referrers. The future implementation of an integrated eye care model at the study setting could sustainably cut wait lists for patients with chronic eye conditions.

Social buffering of plasma corticosterone and amygdala responses of young rats following exposure to periorbital shock: Implications for eyeblink conditioning development.

The developmental onset of aversive learning processes depends on complex interactions between endocrine, neural, and social influences. Emergence of avoidance conditioning in rat pups is triggered by elevated plasma corticosterone activating the amygdala. Further, the mother's ability to buffer the corticosterone response delays the onset of avoidance in ˜2-week-old pups. Eyeblink conditioning (EBC) also develops during the pre-weaning period. In previous work, little or no conditioning was observed on Day 17 for pups housed in the home cage with mother and littermates between training sessions, whereas pups isolated between training sessions did show some conditioning. This suggests that social buffering may also delay the onset of this form of aversive learning. In the present study with Day-17 pups, one session of periorbital shock, the typical EBC unconditioned stimulus for young rat pups, resulted in lower plasma corticosterone levels and neural activity in the central nucleus of the amygdale (CeA) of pups returned to the mother and homecage following the session as compared to pups isolated following the shock session. These findings demonstrate social buffering of the physiological response to aversive stimulus exposure under conditions of EBC and support the hypothesis that social buffering of early adverse experience may adjust the timing of emergence of EBC in rat pups. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

The Mediating Role of Family and Cultural Food Beliefs on the Relationship between Family Communication Patterns and Diet and Health Issues across Racial/Ethnic Groups.

Consumption of red meat has been linked to a variety of health issues, yet Americans are resistant to reducing their meat consumption. Family communication environments shape beliefs about food and meat consumption, and therefore are locations for potential interventions to change the way people think about food. Families are embedded in cultures, and both family and cultural norms shape beliefs about what people should eat. This study (N = 773) is interested in understanding how family communication is associated with food beliefs, meat consumption, and health issues across three racial/ethnic groups: Black/African American (n = 256), Hispanic (n = 260), non-Hispanic White (n = 257). Structural equation modeling results showed that conversation orientation was consistently associated with stronger endorsement of family cultural food beliefs across race/ethnicity groups. Family food beliefs were associated with either more health issues or more meat consumption depending on race/ethnicity and mediated the association between conversation orientation and health issues/meat consumption. Conversation orientation moderated the association between conformity orientation and food beliefs for Hispanic and non-Hispanic White participants. Implications for family communication patterns theory and health scholars are discussed along with recommendations for culturally tailored family-focused health interventions.

Psychological Stress, Its Reduction, and Long-Term Consequences: What Studies with Laboratory Animals Might Teach Us about Life in the Dog Shelter.

There is a long history of laboratory studies of the physiological and behavioral effects of stress, its reduction, and the later psychological and behavioral consequences of unmitigated stress responses. Many of the stressors employed in these studies approximate the experience of dogs confined in an animal shelter. We review how the laboratory literature has guided our own work in describing the reactions of dogs to shelter housing and in helping formulate means of reducing their stress responses. Consistent with the social buffering literature in other species, human interaction has emerged as a key ingredient in moderating glucocorticoid stress responses of shelter dogs. We discuss variables that appear critical for effective use of human interaction procedures in the shelter as well as potential neural mechanisms underlying the glucocorticoid-reducing effect. We also describe recent studies in which enrichment centered on human interaction has been found to reduce aggressive responses in a temperament test used to determine suitability for adoption. Finally, we suggest that a critical aspect of the laboratory stress literature that has been underappreciated in studying shelter dogs is evidence for long-term behavioral consequences-often mediated by glucocorticoids-that may not become apparent until well after initial stress exposure.

Glaucoma Community Care: Does Ongoing Shared Care Work?

PURPOSE: We assessed a novel, public, vertical integrated care model for glaucoma management in the community. METHODS: This study was a retrospective, longitudinal study of 266 patients diagnosed or suspected of glaucoma. Patients were stratified to either ongoing ophthalmology-led (n = 81) or optometry-led shared care (n = 185). Demographics and clinical characteristics, including the re-referral rate and timeliness of follow up were analysed. RESULTS: Just under half (565/1224, 46%) of all follow up consultations over the total study period of 45 months were seen in optometry-led care, with a re-referral rate to ophthalmology of 21%. Treated patients showed a median intraocular pressure reduction of 20% and a median time delay of just two days between the actual and recommended review period. CONCLUSIONS: Shared care provides an effective option for managing the ongoing care burden in chronic stable glaucoma cases at low risk of vision loss.

Presence of mother prompts dissociation of sickness behavior, fever, and hypothalamic gene expression in lipopolysaccharide-injected guinea pig pups.

During infection, sickness behaviors, such as a hunched stance with piloerection, can facilitate host resistance by supporting the generation and maintenance of fever. Fever, in turn, is mediated by hypothalamic neuroimmune signaling. Sickness behaviors, however, can also be influenced by social stimuli. In this study, guinea pig pups were injected with lipopolysaccharide to simulate a bacterial infection and then exposed to a novel, threatening environment while either with their mother or alone. We found that the presence of the mother suppressed sickness behavior, but enhanced fever, and had no measureable effect on gene expression of hypothalamic mediators of fever. This 3-way dissociation induced by the mother's presence is interpreted in terms of the differential adaptive consequences of behavioral and febrile responses for pups in this situation. The results contribute to a growing literature linking immunological and social processes.