There are no assessment and screening tools for Autism Spectrum Disorders (ASD) validated for the Portuguese population. The Social Communication Questionnaire (SCQ) is an useful screening tool of ASD diagnosis. The main objectives of our study were to produce a Portuguese version of the SCQ (SCQ-PF), study its internal consistency, sensitivity and specificity in order to evaluate its validity as a screening instrument for ASD. We also wanted to study the impact of intellectual disability and verbal impairment and other mental disorders on SCQ-PF psychometric properties. The study included 211 children and adolescents, aged 4-17, divided in three groups: ASD Group (n = 96), Other Mental Disorders Group (OMD) (n = 63) and No Mental Disorders (NMD) Group (n = 52). Parents or other primary caregiver provided information on the SCQ items. The SCQ-PF score was significantly higher in the ASD group than in the other groups (p < 0.001). As to internal consistency, Cronbach's alpha was 87%. ASD subjects were distinguished from subjects without ASD (OMD and NMD Groups) and the area under the curve (AUC) was 0.897 (95% Confidence Interval: 0.852-0.943), for a cutoff of 14, which yielded the highest AUC, with values of sensitivity and specificity 0.76 and 0.93, respectively. These findings show that SCQ- PF with a cutoff of 14 is an acceptable and useful screening tool for ASD in the Portuguese population.

Children and young people have much to contribute to the design and delivery of health research and care. Nevertheless, there are multiple barriers to meaningful and impactful involvement of children and young people. This narrative review synthesised existing literature on the involvement of children and young people as partners in health research. Authors screened electronic databases and reference lists to identify relevant studies. Data were extracted on how involvement was described, what young people contributed to, and the impact of their involvement. The review identified 15 reports; these reported researcher observations and findings from focus group discussions and questionnaires about the involvement. Impacts recorded in these studies included influence on research; outputs from involvement activities; shifts in researchers' attitudes; a sense of achievement in young people; and fulfilling relationships. These impacts were associated with principles being followed: building relationships over time to allow for unexpected involvement in the research, flexibility so young people could contribute in ways that work for them, and training. Methods adapted to be youth-appropriate such as visual aids and icebreaker games also enabled impact. Impactful involvement relies on processes that respond to young people's preferences for engagement and activities that support them to share their views.

For both undivided and subdivided populations, the consensus method to maintain genetic diversity is the Optimal Contribution (OC) method. For subdivided populations, this method determines the optimal contribution of each candidate to each subpopulation to maximize global genetic diversity (which implicitly optimizes migration between subpopulations) while balancing the relative levels of coancestry between and within subpopulations. Inbreeding can be controlled by increasing the weight given to within-subpopulation coancestry (λ). Here we extend the original OC method for subdivided populations that used pedigree-based coancestry matrices, to the use of more accurate genomic matrices. Global levels of genetic diversity, measured as expected heterozygosity and allelic diversity, their distributions within and between subpopulations, and the migration pattern between subpopulations, were evaluated via stochastic simulations. The temporal trajectory of allele frequencies was also investigated. The genomic matrices investigated were (i) the matrix based on deviations of the observed number of alleles shared by two individuals from the expected number under Hardy-Weinberg equilibrium; and (ii) a matrix based on a genomic relationship matrix. The matrix based on deviations led to higher global and within-subpopulation expected heterozygosities, lower inbreeding and similar allelic diversity than the second genomic and pedigree-based matrices when a relatively high weight was given to the within-subpopulation coancestries (λ ≥ 5). Under this scenario, allele frequencies moved only slightly away from the initial frequencies. Therefore, the recommended strategy is to use the former matrix in the OC methodology giving a high weight to the within-subpopulation coancestry.

There is growing interest in the role of structural variants (SVs) as drivers of local adaptation and speciation. From a biodiversity genomics perspective, the characterization of genome-wide SVs provides an exciting opportunity to complement single nucleotide polymorphisms (SNPs). However, little is known about the impacts of SV discovery and genotyping strategies on the characterization of genome-wide SV diversity within and among populations. Here, we explore a near whole-species resequence data set, and long-read sequence data for a subset of highly represented individuals in the critically endangered kākāpō (Strigops habroptilus). We demonstrate that even when using a highly contiguous reference genome, different discovery and genotyping strategies can significantly impact the type, size and location of SVs characterized genome-wide. Further, we found that the mean number of SVs in each of two kākāpō lineages differed both within and across generations. These combined results suggest that genome-wide characterization of SVs remains challenging at the population-scale. We are optimistic that increased accessibility to long-read sequencing and advancements in bioinformatic approaches including multireference approaches like genome graphs will alleviate at least some of the challenges associated with resolving SV characteristics below the species level. In the meantime, we address caveats, highlight considerations, and provide recommendations for the characterization of genome-wide SVs in biodiversity genomic research.

Misophonia is a sound sensitivity disorder characterized by unusually strong aversions to a specific class of sounds (e.g., eating sounds). Here we demonstrate the mental health profile in children who develop misophonia, examining depression, anxiety and ADHD. Our participants were members of the birth cohort ALSPAC (Avon Longitudinal Study of Parents and Children). We screened them for misophonia as adults, then analysed their retrospective mental health data from ages 7 to 16 years inclusive, reported from both children and parents. Data from their Development and Wellbeing Assessments (7-15 years) and their Short Mood and Feelings Questionnaires (9-16 years) show that our misophonia group had a greater likelihood of childhood anxiety disorder and depression in childhood (but not ADHD). Our data provide the first evidence from a large general population sample of the types of mental health co-morbidities found in children who develop misophonia.

Indigenous populations have experienced inequality of accessing mental health services compared with their non-Indigenous counterparts, although the way of measuring mental health service accessibility for Indigenous populations is unclear. This systematic review examines measures of mental health service accessibility for Indigenous people, including the diversity of mental health services that are available to them and the barriers to accessing mental healthcare. Using a systematic search procedure, we identified 27 studies that explored Indigenous populations' mental health service access. Our review shows that 18 studies used interview-based methods to explore how Indigenous people use mental health services, and only nine studies used quantitative methods to measure the uptake of mental health services. While advanced methods for quantifying geographical access to healthcare services are widely available, these methods have not been applied in the current literature to explore the potential access to mental health services by Indigenous populations. This is partially due to limited understanding of how Indigenous populations seek mental healthcare, barriers that prevent Indigenous people from accessing diverse types of mental health services, and scarcity of data that are available to researchers. Future research could focus on developing methods to support spatially explicit measuring of accessibility to mental health services for Indigenous populations.

People value solitude in varying degrees. Theories and studies suggest that people's appreciation of solitude varies considerably across persons (e.g., an introverted person may value solitude more than an extraverted person), and solitude experiences (i.e., on average, people may value some functions of solitude, e.g., privacy, more than other functions, e.g., self-discovery). What are the unique contributions of these two sources?

Serious complications can develop from erroneous insertion of a peripheral intravenous catheter (PIVC). Successful PIVC insertion has a great place in the continuation of IV treatment without causing complications that may require the removal of the PIVC.

Epicardial ablation has become an integral part of the treatment of ventricular tachycardias (VT). This study reports the safety of epicardial access as well as the efficacy of epicardial ablation of structural heart disease in a tertiary single-center experience.

Research partnerships between researchers and knowledge users (KUs) in child health are understudied. This study examined the scope of KU engagement reported in published child health research, inclusive of health research partnership approaches and KU groups. Search strategies were developed by a health research librarian. Studies had to be in English, published since 2007, and were not excluded based on design. A two-step, multiple-person hybrid screening approach was used for study inclusion. Data on study and engagement characteristics, barriers and facilitators, and effects were extracted by one reviewer, with 10% verified by a second reviewer. Three hundred fifteen articles were included, with 243 (77.1%) published between 2019 and 2021. Community-based participatory research was the most common approach used (n = 122, 38.3%). Most studies (n = 235, 74.6%) engaged multiple KU groups (range 1-11), with children/youth, healthcare professionals, and parents/families being most frequently engaged. Reporting of barriers and facilitators and effects were variable, reported in 170 (53.8%) and 197 (62.5%) studies, respectively. Publications have increased exponentially over time. There is ongoing need to optimize evaluation and reporting consistency to facilitate growth in the field. Additional studies are needed to further our understanding of research partnerships in child health.

Growing interest in the links between parent-child relationships and child behavioural presentations in families of autistic children has led to an increased use of the Five Minute Speech Sample (FMSS) measure of parental expressed emotion (EE) in autism research. This review focuses on studies exploring the relationships between parental EE and behavioural outcomes in autistic children. Electronic searches of six databases and grey literature wielded eight studies that met eligibility criteria. Study designs were a mixture of cross-sectional and longitudinal and quality of studies was variable. Parental criticism was largely positively related to, and showed some predictive value for, child behaviour problems. Warmth was mostly negatively related to, and showed some predictive value for, child behaviour problems. Preliminary evidence from one study showed paternal warmth to be significantly related to child behaviours, whilst child behaviours were also significantly related to paternal warmth, suggesting a bidirectional relationship. Analysis of additional EE components produced variable results, however parental stress and depressive symptoms were consistently related to child behaviour, and preliminary evidence suggests a possible role of maternal education level and family cohesion. Outcomes were variable across FMSS coding systems and greater consistency in their application is needed in future research. The current findings suggest that parental EE has an important relationship with child behaviour and future intervention efforts may benefit from aiming to reduced EE in order to improve child outcomes.

Although sex-related differences in cardiovascular surgery outcomes have increasingly garnered attention in the past decades, knowledge about sex disparities in the pathophysiology of acute type A aortic dissections (ATAADs) remains sparse. In this study, we evaluate the histopathologic and atherosclerotic lesions in female and male ATAAD patients.

We examined the long-term causal effects of an evidence-based parenting program delivered in infancy on children's emotion regulation and resting-state functional connectivity (rs-fc) during middle childhood. Families were referred to the study by Child Protective Services (CPS) as part of a diversion from a foster care program. A low-risk group of families was also recruited. CPS-involved families were randomly assigned to receive the target (Attachment and Biobehavioral Catch-up, ABC) or a control intervention (Developmental Education for Families, DEF) before infants turned 2. Both interventions were home-based, manualized, and 10-sessions long. During middle childhood, children underwent a 6-min resting-state functional MRI scan. Amygdala seed-based rs-fc analysis was completed with intervention group as the group-level predictor of interest. Fifty-seven children (NABC = 21; NDEF = 17; NCOMP = 19; Mage = 10.02 years, range = 8.08-12.14) were scanned successfully. The DEF group evidenced negative left amygdala↔OFC connectivity, whereas connectivity was near zero in the ABC and comparison groups (ABCvsDEF: Cohen's d = 1.17). ABC may enhance high-risk children's regulatory neurobiology outcomes ∼8 years after the intervention was completed.

Organoids have emerged as a powerful tool for modeling tissue growth and diseases. In this study, we introduce a groundbreaking organotypic culture technique that replicates the morphology, scale, and heterogeneity of human breast tissue, and includes a mesenchymal-like stromal component. A standout feature of this approach is the use of long-term live imaging at high temporal resolution to directly observe stem cell dynamics during organogenesis, from single cells to mature organ tissue. The system is adaptable for high throughput applications and allows for genetic manipulation of the cells. Real-time imaging of ex-vivo tissue formation reveals a non-canonical process of ductal-lobular morphogenesis and branching, and de-novo generation of a supportive stroma. Incorporating patient-derived single cells from multiple donors offers an enhanced representation of the spectrum of individual responses and the impacts of distinct exposures. While developed for breast tissue, the principles of this technology can serve as a model for the development of similar systems in other tissues, where organoids do not merely reproduce the tissue, but where their regeneration can also be observed and studied. In addition, this model provides a quantitative experimental system to study mechanisms of embryogenesis, development, and tissue organization where biomechanics plays an important role.

Retrospective observational study.

Within anatomical willed body programs and skeletal collections, whole bodies and their disassociated limbs and organs are identified and tracked. However, if these tracking mechanisms fail, DNA recovered from the formalin-fixed tissues/organs could provide an additional layer of quality assurance. Embalming fluids preserve biological tissues; however, they also damage, fragment, and cross-link DNA and protein molecules. This project investigated the success of STR-typing from various soft tissue and bone samples that were fixed with embalming solutions with a range of formaldehyde concentrations. Formalin-fixed samples dissected from five cadavers, including skin, muscle, bone, heart, and kidney were used in Phase 1 of this study. In Phase 2, an additional 57 tissue samples from various embalmed organs and body parts were collected to demonstrate long-term fixation and direct applicability within a body donor program. DNA was extracted from the samples using the QIAamp® FFPE Tissue Kit (QIAGEN), quantified with the Investigator® QuantiPlex® Pro RGQ qPCR Kit (QIAGEN), and amplified using the Investigator® 24plex and 26plex QS Kits and the Investigator® DIPplex Kit (QIAGEN). The results show the DNA was severely damaged, degraded, and often in low amounts (after one year post-embalming). Sampling from skin and muscle tissues embalmed with ~2.5%-5% formaldehyde solutions appears to be the best strategy for identification, while also maintaining the preservation of the tissues. The results of this project can provide informative data when determining which genotyping strategy may be best suited for the identification, re-association, and establishment of a database for the provenance of formalin-fixed human remains.

Considering the large abundance and diversity of metal-organic frameworks (MOFs), evaluating the gas adsorption and separation performance of the entire MOF material space using solely experimental techniques or brute-force computer simulations is impractical. In this study, we integrated high-throughput molecular simulations with machine learning (ML) to explore the potential of both synthesized, the real MOFs, and computer-generated, the hypothetical MOFs (hypoMOFs), for adsorption-based CH4/N2 separation. CH4/N2 mixture adsorption data obtained from molecular simulations were used to train the ML models that could accurately predict gas uptakes of 4612 real MOFs. These models were then transferred to two distinct databases consisting of 98 601 hypoMOFs and 587 anion-pillared hypoMOFs to examine their CH4/N2 mixture separation performances using various adsorbent evaluation metrics. The top adsorbents were identified for vacuum swing adsorption (VSA) and pressure swing adsorption (PSA) conditions and examined in detail to gain molecular insights into their structural and chemical properties. Results revealed that the hypoMOFs offered high CH4 selectivities, up to 14.8 and 13.6, and high working capacities, up to 3.1 and 5.8 mol/kg, at VSA and PSA conditions, respectively, and many of the hypoMOFs could outperform the real MOFs. Our approach offers a rapid and accurate assessment of the mixture adsorption and separation properties of MOFs without the need for computationally demanding simulations. Our results for the best adsorbents will be useful in accelerating the experimental efforts for the design of novel MOFs that can achieve high-performance CH4/N2 separation.

Radiochromic film (RCF) is a detector that can obtain a two-dimensional dose distribution with high resolution; it is widely used in medical and industrial fields. Several types of RCFs exist based on their application. The type of RCF mainly used for mammography dose assessment has been discontinued; however, a new type of RCF (LD-V1) has been distributed as a successor. Since the medical use of LD-V1 has rarely been studied, we investigated the response characteristics of LD-V1 in mammography.

Peptide receptor chemoradionuclide therapy (PRCRT), the addition of radiosensitising chemotherapy to peptide receptor radionuclide therapy (PRRT), has been used in individual centres for neuroendocrine neoplasms (NENs), but there are few data to date regarding its efficacy and safety. We conducted a systematic review to document the efficacy and side effect profile of this combination. We searched for studies including ≥5 patients with advanced NENs who received PRCRT. Major databases were searched and supplemented by handsearching of major conferences from 2019 to 2023. Data extracted included clinicopathological characteristics, trial setting and doses of chemotherapy and PRRT administered. Endpoints included overall survival (OS), progression-free survival (PFS) and adverse events (AEs); summarised qualitatively because of the marked heterogeneity in patient populations, trial designs and treatments administered. Eligible studies (24) included: 14 retrospective studies (643 patients) and 10 prospective studies (521 patients). For PRRT, most studies used 177Lu (n = 21), with combination 177Lu + 90Y (n = 2), 111In (n = 1) and 225Ac (n = 1). Chemotherapy regimens included capecitabine (n = 8), capecitabine and temozolomide (n = 5), 5-fluorouracil (n = 4) or a mixture of regimens (n = 6). Most studies included Grade 1-2 NENs. In prospective studies, median OS exceeded 2 years in most studies (range not reached by end of follow-up-86 months). In retrospective studies, median OS ranged from 7 months to 55 months and was not reached in many studies. PFS data ranged from 31 months-not reached in prospective cohorts and from 4 months-not reached in retrospective cohorts. Grade 3/4 AEs were commonly haematological, with majority being reversible or having no ongoing clinical impact. For advanced NENs, PRCRT treatment has demonstrated promising clinical outcomes and was well tolerated, although identified studies were heterogeneous. Further randomised trial data are required to clarify the place of this combination modality in the NEN treatment paradigm.

The ever-growing consumption of herbs around the globe has motivated the researchers to acquire practical knowledge about other potential applications in human and animal health. In this research, an unmodified adsorbent prepared from the holoparasitic herb C. corymbosa was utilized for the removal of the carcinogen aflatoxin B1 (AFB1) from aqueous solutions. The adsorbent was characterized by Fourier transform near-infrared/mid-infrared spectrophotometry (FT-NIR/MIR), environmental scanning electron microscopy (ESEM), energy-dispersive X-ray fluorescence spectroscopy (EDX), X-ray diffraction (XRD), and point of zero charge (pHpzc). Adsorption experiments were carried out in batch systems, and the experimental data was used for isothermal (Langmuir and Freundlich) and kinetic (linear and non-linear forms of the pseudo-first and pseudo-second order) models. In general, the unmodified adsorbent removed AFB1 independent of the solution pH, showing a theoretical adsorption capacity of 555.76 mg AFB1/g at 303 K, significantly higher than that reported for other plant-based adsorbents and comparable with the efficiency of various inorganic adsorbents. Non-electrostatic attractions such as hydrogen bonding and dispersion forces along with complexation mechanisms were the primary interactions responsible for the adsorption of the pollutant. Our results clearly show that C. corymbosa could be a promising material for practical adsorption applications in the drinking water industry.