Miracle-dz/UniFAR-FTUs huggingface dataset:
Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice

ABSTRACT: Objective: The phenotypic impact of fragile X syndrome (FXS) has been well-documented since the discovery of the fragile X messenger ribonucleoprotein 1 gene 30 years ago. However, gaps remain in clinical and public health research. The purpose of this literature review was to determine the extent to which these gaps have been addressed and identify targeted areas of future research. Methods: We conducted an electronic search of several scientific databases using a variety of key words. The search focused on 5 areas identified as research gaps by an earlier review: (1) diagnosis, (2) phenotypic presentation, (3) familial impact, (4) interventions and treatments, and (5) life span perspectives. Inclusion criteria included publication between 2014 and 2020, focus on human subjects, and publication in English. A total of 480 articles were identified, 365 were reviewed, and 112 are summarized in this review. Results: Results are organized into the following categories: (1) FXS phenotype and subtypes (FXS subtypes, medical profile, cognitive/developmental profile, social and behavioral profile); (2) needs of adults; (3) public health needs (clinical diagnosis and newborn screening, health care needs, and access); (4) treatment (treatment priorities, pharmacological treatments, and behavioral and educational interventions); and (5) families (economic burden and mother-child relationship). Conclusion: Despite the progress in many areas of FXS research, work remains to address gaps in clinical and public health knowledge. We pose 3 main areas of focused research, including early detection and diagnosis, determinants of health, and development and implementation of targeted interventions.
Substitutions near the HA receptor binding site explain the origin and major antigenic change of the B/Victoria and B/Yamagata lineages

Significance Influenza viruses are estimated to infect up to 20% of people during annual epidemics, causing substantial morbidity and mortality, particularly among risk groups. Vaccines continue to be the best available preventive measure, but their efficacy is hindered by constant viral immune evasion. Two cocirculating influenza B virus lineages, B/Victoria and B/Yamagata, are antigenically distinct, and immunity against one lineage does not protect optimally against infection with the other. By investigating the genetic and antigenic data of a historical influenza B virus collection, we reconstructed the antigenic evolution and identified the molecular determinants of the early antigenic diversification. This research improves our understanding of the emergence of new antigenic variants of influenza virus, important for influenza vaccine design and strain selection.
Analysis of related factors for adolescents’ intention to use alcohol in Korea

The harmful effects of alcohol consumption by adolescents have been increasingly emphasized. Thus, it is necessary to identify individual and environmental factors that encourage drinking. This study investigated factors associated with the sustainable use of alcohol (SUA) in adolescents who consume alcohol, and the possibility of future drinking (PFD) in non-drinking adolescents. Data from “The Adolescents Awareness Survey of Alcohol Encouraging Environment” by the Ministry of Health and Welfare and the Korea Health Promotion Institute (2017) were used. The survey was completed by 1,038 participant, selected through a proportional allocation extraction method, who were aged 13–18 years and lived in five cities with a population of over 1 million. The factors associated with SUA included gender (β = 0.634, p = 0.004), grade (8th β = 1.591, p<0.001, 9th β = 1.674, p<0.001, 10th β = 1.497, p = 0.001, 11th β = 1.041, p = 0.004, 12th β = 2.610, p<0.001), drinking alone (β = -2.147, p = 0.002), liquor commercial (β = 1.644, p<0.001), ease of alcohol purchase (β = 1.541, p = 0.025), parent’s recommendation for drinking (β = 1.084, p<0.001), not knowing the mother’s education level (β = -0.685, p = 0.045), positive expectancy of drinking (β = 0.141, p<0.001), number of pubs (β = 0.303, p = 0.002), internet game cafes (β = 0.456, p = 0.019), and karaokes (β = -0.098, p = 0.023) in the community. The factors associated with the PFD in non-drinkers were grade (8th β = 0.531, p = 0.024, 10th β = 0.717, p = 0.035, 12th β = 1.882, p = 0.001), liquor commercial (β = -1.355, p<0.001), parent’s recommendation for drinking (β = 0.783, p = 0.020), positive expectancy of drinking (β = 0.139, p<0.001), and relationship with the father (β = 0.072, p = 0.033). Multidimensional interventions, including those by individuals, parents, peers, and local communities, are needed to prevent SUA and the PFD in adolescents.
MAXIMALLY STAR-FORMING GALACTIC DISKS. II. VERTICALLY RESOLVED HYDRODYNAMIC SIMULATIONS OF STARBURST REGULATION

We explore the self-regulation of star formation using a large suite of high-resolution hydrodynamic simulations, focusing on molecule-dominated regions (galactic centers and [U]LIRGS) where feedback from star formation drives highly supersonic turbulence. In equilibrium, the total midplane pressure, dominated by turbulence, must balance the vertical weight of the interstellar medium. Under self-regulation, the momentum flux injected by feedback evolves until it matches the vertical weight. We test this flux balance in simulations spanning a wide range of parameters, including surface density Σ, momentum injected per stellar mass formed (p*/m*), and angular velocity. The simulations are two-dimensional radial–vertical slices, and include both self-gravity and an external potential that helps to confine gas to the disk midplane. After the simulations reach a steady state in all relevant quantities, including the star formation rate ΣSFR, there is remarkably good agreement between the vertical weight, the turbulent pressure, and the momentum injection rate from supernovae. Gas velocity dispersions and disk thicknesses increase with p*/m*. The efficiency of star formation per free-fall time at the midplane density, ϵff(n0), is insensitive to the local conditions and to the star formation prescription in very dense gas. We measure ϵff(n0) ∼ 0.004–0.01, consistent with low and approximately constant efficiencies inferred from observations. For Σ ∈ (100–1000) M☉ pc−2, we find ΣSFR ∈ (0.1–4) M☉ kpc−2 yr−1, generally following a ΣSFR ∝ Σ2 relationship. The measured relationships agree very well with vertical equilibrium and with turbulent energy replenishment by feedback within a vertical crossing time. These results, along with the observed Σ–ΣSFR relation in high-density environments, provide strong evidence for the self-regulation of star formation.
Is there a gap between artificial intelligence applications and priorities in health care and nursing management?

Abstract Aim The article aims to outline a contrast between three priorities for nursing management proposed a decade ago and key features of the following 10 years of developments on artificial intelligence for health care and nursing management. This analysis intends to contribute to update the international debate on bridging the essence of health care and nursing management priorities and the focus of artificial intelligence developers. Background Artificial intelligence research promises innovative approaches to supporting nurses' clinical decision‐making and to conduct tasks not related to patient interaction, including administrative activities and patient records. Yet, even though there has been an increase in international research and development of artificial intelligence applications for nursing care during the past 10 years, it is unclear to what extent the priorities of nursing management have been embedded in the devised artificial intelligence solutions. Evaluation Starting from three priorities for nursing management identified in 2011 in a special issue of the Journal Nursing Management, we went on to identify recent evidence concerning 10 years of artificial intelligence applications developed to support health care management and nursing activities since then. Key Issue The article discusses to what extent priorities in health care and nursing management may have to be revised while adopting artificial intelligence applications or, alternatively, to what extent the direction of artificial intelligence developments may need to be revised to contribute to long acknowledged priorities of nursing management. Conclusion We have identified a conceptual gap between both sets of ideas and provide a discussion on the need to bridge that gap, while admitting that there may have been recent field developments still unreported in scientific literature. Implications for Nursing Management Artificial intelligence developers and health care nursing managers need to be more engaged in coordinating the future development of artificial intelligence applications with a renewed set of nursing management priorities.
Efficacy of memory training interventions targeting metacognition for older adults: a systematic review and meta-analysis

Abstract Objectives This review examined the evidence about training interventions targeting metacognition in improving memory and cognitive performance, metacognitive functioning, and well-being in healthy older adults. Methods Studies were identified in the PsycInfo, PubMed, and Scopus databases. The risk of bias was assessed using tools based on the Joanna Briggs criteria. The data were meta-analyzed using random effects models for those training targeting metacognition alone (metacognitive training) or combined with memory strategy training (strategic metacognitive training). Results Out of the 3,487 articles first identified, 25 studies were eligible for our review (N = 1,768 older adults; mean age range: 64–85 years). Metacognitive training and strategic metacognitive training elicited improvements in memory (d = 0.52 [95% CI: 0.19; 0.84], and d = 0.44 [95% CI: 0.29; 0.58], respectively), metacognitive beliefs (d = 0.58 [95% CI: 0.23; 0.93], and d = 48 [95% CI: 0.28; 0.69], respectively), strategy use (d = 0.98 [95% CI: 0.46; 1.49] and 0.87 [95% CI: 0.14; 1.61], respectively), and memory self-efficacy (d = 0.08 [95% CI: -0.39; 0.56] and 0.55 [95% CI: 0.36; 0.75], respectively). Strategic metacognitive training also improved well-being (d = 0.21 [95% CI: 0.07; 0.35]). Conclusion Interventions targeting metacognition (alone or combined with memory strategy training) have the potential to support older adults’ memory and metacognitive functioning. The methodological quality of most studies on the topic was often limited, however. Furthermore, well-designed studies needed to confirm the benefits of such interventions in older age.
Minimum reporting standards for process and outcomes assessments for private practice dietitians working in Australian primary care: The Thought Leader Consensus study

Abstract Aim To identify minimum reporting standards for assessing the processes and outcomes of Australian primary care dietetics practice. Methods A sequential, mixed‐method, exploratory process with peer‐nominated Australian ‘thought leaders’. A literature review was undertaken to identify possible standards, followed by semi‐structured qualitative interviews with thought leaders. Content analysis was used to identify a comprehensive group of items that could inform evidence‐based reporting standards. Two rounds of a modified Delphi survey were conducted with the same thought leaders to seek consensus on the most relevant items. Individual items were analysed for content validity, and those with a rating of excellent item‐content validity (index >0.78) were included as evidenced‐based standards for primary care practice. Results Twenty‐six thought leaders (response rate: 87%) from all mainland Australian states completed a qualitative interview and two rounds of modified‐Delphi consensus surveys. Items were identified and categorised into three domains: business, clinical, and implementation. Content analysis identified 216 items published or used in practice by the thought leaders. After two rounds of consensus review, 97 items (45 business, 33 clinical, and 19 implementation) achieved excellent consensus ratings. Combining these items into a standardised tool, the scale‐content validity index average was >0.90, which is considered excellent content validity. Conclusions This study has identified minimum reporting standards for evidence‐based process and outcome assessments in primary care dietetics practice in Australia. Incorporating such standards into a standardised tool could enable benchmarking across the dietetics workforce and contribute to a broader understanding of the dietetic impact on public health.
THE ORIGIN OF THE EXTRAGALACTIC GAMMA-RAY BACKGROUND AND IMPLICATIONS FOR DARK MATTER ANNIHILATION

The origin of the extragalactic γ-ray background (EGB) has been debated for some time. The EGB comprises the γ-ray emission from resolved and unresolved extragalactic sources, such as blazars, star-forming galaxies, and radio galaxies, as well as radiation from truly diffuse processes. This Letter focuses on the blazar source class, the most numerous detected population, and presents an updated luminosity function and spectral energy distribution model consistent with the blazar observations performed by the Fermi-Large Area Telescope (LAT). We show that blazars account for 50 − 11 + 12 ? > % of the EGB photons (>0.1 GeV), and that Fermi-LAT has already resolved ∼70% of this contribution. Blazars, and in particular hard-spectrum sources such as BL Lacs, are responsible for most of the EGB emission above 100 GeV. We find that the extragalactic background light, which attenuates blazars’ high-energy emission, is responsible for the high-energy cutoff observed in the EGB spectrum. Finally, we show that blazars, star-forming galaxies, and radio galaxies can naturally account for the amplitude and spectral shape of the background in the 0.1–820 GeV range, leaving only modest room for other contributions. This allows us to set competitive constraints on the dark matter annihilation cross section.
Graded Cardiac Response Criteria for Patients With Systemic Light Chain Amyloidosis

PURPOSE Binary cardiac response assessment using cardiac biomarkers is prognostic in light chain amyloidosis. Previous studies suggested four-level cardiac responses using N-terminal prohormone of brain natiuretic peptide improves prognostic prediction. This study was designed to validate graded cardiac response criteria using N-terminal prohormone of brain natiuretic peptide/brain natiuretic peptide. PATIENTS AND METHODS This retrospective, multicenter study included patients with light chain amyloidosis who achieved at least a hematologic partial response (PR) and were evaluable for cardiac response. Four response criteria were tested on the basis of natriuretic peptide response depth: cardiac complete response (CarCR), cardiac very good partial response (CarVGPR), cardiac PR (CarPR), and cardiac no response (CarNR). Response was classified as best response and at fixed time points (6, 12, and 24 months from therapy initiation). The study primary outcome was overall survival. RESULTS 651 patients were included. Best CarCR, CarVGPR, CarPR, and CarNR were achieved in 16%, 26.4%, 22.9%, and 34.7% of patients, respectively. Patients in cardiac stage II were more likely to achieve CarCR than patients in cardiac stage IIIA and IIIB (22% v 13.5% v 3.2%; P < .001). A deeper cardiac response was associated with a longer survival (5-year overall survival 93%, 79%, 65%, and 33% for CarCR, CarVGPR, CarPR, and CarNR, respectively; P < .001). Fixed time-point analyses and time-varying covariates Cox regression analysis, to minimize survivorship bias, affirmed the independent survival advantage of deeper cardiac responses. Four-level response performed better than two-level response as early as 12 months from therapy initiation. CONCLUSION Graded cardiac response criteria allow better assessment of cardiac improvement compared with the traditional binary response system. The study re-emphasizes the importance of early diagnosis, which increases the likelihood of deep cardiac responses.
Infertility, pregnancy loss and assisted reproduction in women with asthma: a population-based cohort study

Abstract STUDY QUESTION Is the chance of childbirth, and risk of infertility, pregnancy loss and need for assisted reproduction different for women with asthma compared to women without asthma? SUMMARY ANSWER Women with asthma had comparable chances of giving birth compared to the reference population, however, their risk of both infertility and pregnancy loss, as well their need for medically assisted reproduction, was higher. WHAT IS KNOWN ALREADY Reproductive dysfunction has been reported among women with asthma, including longer time to pregnancy, increased risk of pregnancy loss and a higher need of medically assisted reproduction, but their risk of clinical infertility is unknown. STUDY DESIGN, SIZE, DURATION This longitudinal register-based cohort study included all women with a healthcare visit for delivery, infertility, pregnancy loss or induced abortion in the southernmost county in Sweden, over the last 20 years. PARTICIPANTS/MATERIALS, SETTING, METHODS Using the Skåne Healthcare Register, we identified all women aged 15–45 between 1998 and 2019, who received a diagnosis of asthma before their first reproductive outcome (n = 6445). Chance of childbirth and risk of infertility, pregnancy loss and assisted reproduction were compared to a healthcare seeking population of women without any asthma (n = 200 248), using modified Poisson regressions. MAIN RESULTS AND THE ROLE OF CHANCE The chance of childbirth was not different between women with asthma versus those without, adjusted risk ratio (aRR) = 1.02, 95% CI: 1.01–1.03. The risk of seeking care for infertility was increased, aRR = 1.29, 95% CI: 1.21–1.39, and women with asthma more often needed assisted reproduction aRR = 1.34 95% CI: 1.18–1.52. The risk of suffering a pregnancy loss was higher, aRR = 1.21, 95% CI: 1.15–1.28, and induced abortions were more common, aRR = 1.15, 95% CI: 1.11–1.20, among women with asthma. LIMITATIONS, REASONS FOR CAUTION The study was an observational study based on healthcare visits and lacked detailed anthropometric data, thus residual confounding cannot be excluded. Only women with a healthcare visit for a reproductive outcome were included, which cannot be translated into pregnancy intention. A misclassification, presumed to be non-differential, may arise from an incorrect or missing diagnosis of asthma or female infertility, biasing the results towards the null. WIDER IMPLICATIONS OF THE FINDINGS This study points towards reproductive dysfunction associated with asthma, specifically in regards to the ability to maintain a pregnancy and the risk of needing medically assisted reproduction following clinical infertility, but reassuringly the chance of subsequently giving birth was not lower for these women. STUDY FUNDING/COMPETING INTEREST(S) This article is part of the ReproUnion collaborative study, co-financed by EU Interreg ÖKS, Capital Region of Denmark, Region Skåne and Ferring Pharmaceuticals. The authors have no competing interests to disclose. TRIAL REGISTRATION NUMBER N/A.
The role of surface states and point defects on optical properties of InGaN/GaN multi-quantum wells in nanowires grown by molecular beam epitaxy

The optical properties of nanowire-based InGaN/GaN multiple quantum wells (MQWs) heterostructures grown by plasma-assisted molecular beam epitaxy are investigated. The beneficial effect of an InGaN underlayer grown below the active region is demonstrated and assigned to the trapping of point defects transferred from the pseudo-template to the active region. The influence of surface recombination is also investigated. For low InN molar fraction value, we demonstrate that AlO x deposition efficiently passivate the surface. By contrast, for large InN molar fraction, the increase of volume non-radiative recombination, which we assign to the formation of additional point defects during the growth of the heterostructure dominates surface recombination. The inhomogeneous luminescence of single nanowires at the nanoscale, namely a luminescent ring surrounding a less luminescent centre part points towards an inhomogeneous spatial distribution of the non-radiative recombination center tentatively identified as intrinsic point defects created during the MQWs growth. These results can contribute to improve the performances of microLEDs in the visible range.
Impact of exacerbations on lung function, resource utilization, and productivity: results from an observational, prospective study in adults with uncontrolled asthma

Abstract Background: Exacerbations have a major impact on the well-being of patients with uncontrolled asthma. This study evaluated lung function, healthcare resource utilization (HCRU), and productivity loss following asthma exacerbations.Methods: This single-center, observational, prospective cohort study recruited US patients presenting clinically with an acute asthma exacerbation; a reference group without exacerbations was included for comparison. Lung function (forced expiratory volume in 1 second [FEV1]) was collected at baseline, daily during Month 1, and monthly for Months 2–5, and reported as FEV1 percent predicted (FEV1pp). HCRU (outpatient visits to a healthcare practitioner, emergency room [ER] visits, and hospitalizations for asthma), oral corticosteroid (OCS) use, and asthma-related work/school absence were collected monthly for 6 months.Results: Overall, 150 patients were recruited (exacerbation: n=102; reference: n=48; mean [SD] age: 42.7 [15.2] and 49.6 [12.4] years; female: 73% and 71%). In both groups, similar trends were observed in FEV1, with significant improvement from baseline to Week 1 (p<0.05), followed by a continuous decline. FEV1p was 7.7% lower at baseline and 8.6% lower at Month 5 in the exacerbation group versus the reference group. The exacerbation group had significantly higher rates of OCS prescription during follow-up versus reference group (p=0.04). Over half (52.9%) of patients in the exacerbation group had a recurrent exacerbation during follow-up, increased HCRU (outpatient visits, ER visits, and hospitalizations), and impaired productivity.Conclusion: Although patients with exacerbations had rapid recovery of lung function, this was not maintained and declined faster than in patients without exacerbations. Additionally, patients experienced increased HCRU after exacerbations.