Miracle-dz/UniFAR-FTUs huggingface dataset:
Phenotypic and molecular insights into PQBP1‐related intellectual disability

We report two discordant clinical and imaging features in four male patients from two unrelated families of Egyptian descent with hemizygous pathogenic variants in PQBP1. The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c.586C>T p.R196*. Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki‐like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia. These imaging features are distinct from the previously described with a well‐known phenotype that is already known for PQBP1. This report expands the phenotypic spectrum of PQBP1‐related disorders and is the second reported missense PQBP1 variant. Further, it highlights the possible role of PQBP1 in hindbrain development.
Minimal Impact of Implemented Early Warning Score and Best Practice Alert for Patient Deterioration*

Objectives: Previous studies have looked at National Early Warning Score performance in predicting in-hospital deterioration and death, but data are lacking with respect to patient outcomes following implementation of National Early Warning Score. We sought to determine the effectiveness of National Early Warning Score implementation on predicting and preventing patient deterioration in a clinical setting. Design: Retrospective cohort study. Setting: Tertiary care academic facility and a community hospital. Patients: Patients 18 years old or older hospitalized from March 1, 2014, to February 28, 2015, during preimplementation of National Early Warning Score to August 1, 2015, to July 31, 2016, after National Early Warning Score was implemented. Interventions: Implementation of National Early Warning Score within the electronic health record and associated best practice alert. Measurements and Main Results: In this study of 85,322 patients (42,402 patients pre-National Early Warning Score and 42,920 patients post-National Early Warning Score implementation), the primary outcome of rate of ICU transfer or death did not change after National Early Warning Score implementation, with adjusted hazard ratio of 0.94 (0.84–1.05) and 0.90 (0.77–1.05) at our academic and community hospital, respectively. In total, 175,357 best practice advisories fired during the study period, with the best practice advisory performing better at the community hospital than the academic at predicting an event within 12 hours 7.4% versus 2.2% of the time, respectively. Retraining National Early Warning Score with newly generated hospital-specific coefficients improved model performance. Conclusions: At both our academic and community hospital, National Early Warning Score had poor performance characteristics and was generally ignored by frontline nursing staff. As a result, National Early Warning Score implementation had no appreciable impact on defined clinical outcomes. Refitting of the model using site-specific data improved performance and supports validating predictive models on local data.
School-Related Social Support Is Associated With School Engagement, Self-Competence and Health-Related Quality of Life (HRQoL) in Turkish Immigrant Students

This study examines how school-related social support from teachers and classmates is related to the health-related quality of life (HRQoL), school engagement, and self-competence of Turkish immigrant students in Germany. We used data from the SIMCUR study with a longitudinal and cohort-sequential design. The study included a total of 216 Turkish immigrant children and adolescents. Complete longitudinal data was available for 161 participants. Students rated their perceived teachers and classmate support, HRQoL, school engagement, and self-competence in math and reading in 4th (n = 136), 5th (n = 110), and 6th grades (n = 100) (middle/ M-cohort), or in 7th (n = 73) and 8th (n = 69) grades (older/ O-cohort). Multiple regression analysis revealed that school-related social support had positive effects on all outcomes in 4th grade. In 5th, 6th and 7th grades, higher classmate support was associated with higher HRQoL but not with school engagement and self-competence, whereas higher teacher support was associated with higher school engagement and self-competence but not with HRQoL. In 8th grade, only a positive effect of teacher support on school engagement was found. Girls were more likely to report higher school-related social support, but this reached significance only for the the M-cohort. Boys in 5th, 7th, and 8th grades reported higher self-competence in math than girls. We found hardly any effects of maternal education level on HRQoL and school outcomes of students. Only for 4th grade students was higher maternal education level associated with higher school engagement. Our findings indicate that for younger children especially in elementary school, teacher and classmate support has positive effects on both HRQoL and school-related variables; for students at the beginning of middle school, classmate support only has an influence on HRQoL. Regarding school matters, students in these grades profit from teacher support as from classmates. During adolescence, school-related social support loses significance in terms of HRQoL and self-competence. However, teacher support still seems to have a significant impact on students’ school-engagement. From an applied perspective, interventions aimed at HRQoL and academic achievement of children and adolescents should include a focus on social support by teachers and classmates.
The effects of psychological meaning-centered therapies on quality of life and psychological stress: A metaanalysis

ABSTRACT Objective: Many psychotherapists speak with clients about meaning in life. Meaning is an neutral evidence-based term for a subjective sense of purpose, values, understanding, self-worth, action-directed goals, and self-regulation. Since little is known about its effectiveness, our study aimed to determine the effects of meaning-centered therapies (MCTs) on improving quality of life and reducing psychological stress. Method: Independent researchers selected and scored articles in multiple languages in multiple search engines. Weighted pooled mean effects were calculated following a random-effects model. Sensitivity analyses included moderators, study and sample characteristics, risk of bias, randomization, types of MCT, control condition, and outcome instruments. Results: Some 52,220 citations included 60 trials (total sample N = 3,713), of which 26 were randomized controlled trials (N = 1,975), 15 nonrandomized controlled trials (N = 709), and 19 nonrandomized noncontrolled trials with pre/post measurements (N = 1,029). Overall analyses showed large improvements from baseline to immediate posttreatment and follow-up on quality of life (Hedges' g = 1.13, SE = 0.12; g = 0.99, SE = 0.20) and psychological stress (g = 1.21, SE = 0.10; g = 0.67, SE = 0.20). As effects varied between studies, further analyses focused only on controlled trials: MCT had large effect sizes compared to control groups, both immediate and at follow-up, on quality of life (g = 1.02, SE = 0.06; g = 1.06, SE = 0.12) and psychological stress (g = 0.94, SE = 0.07, p < 0.01; g = 0.84, SE = 0.10). Immediate effects were larger for general quality of life (g = 1.37, SE = 0.12) than for meaning in life (g = 1.18, SE = 0.08), hope and optimism (g = 0.80, SE = 0.13), self-efficacy (g = 0.89, SE = 0.14), and social well-being (g = 0.81, SE = 13). The homogeneity of these results was validated by the lack of significance of moderators and alternative ways of selecting studies. Metaregression analyses showed that increases in meaning in life predicted decreases in psychological stress (β = –0.56, p < 0.001). Significance of results: MCT strongly improves quality of life and reduces psychological stress. MCT should be made more widely available, particularly to individuals in transitional moments in life or with a chronic or life-threatening physical illness as they explicitly report meaning-centered concerns.
Answerer in Questioner's Mind: Information Theoretic Approach to Goal-Oriented Visual Dialog

Goal-oriented dialog has been given attention due to its numerous applications in artificial intelligence. Goal-oriented dialogue tasks occur when a questioner asks an action-oriented question and an answerer responds with the intent of letting the questioner know a correct action to take. To ask the adequate question, deep learning and reinforcement learning have been recently applied. However, these approaches struggle to find a competent recurrent neural questioner, owing to the complexity of learning a series of sentences. Motivated by theory of mind, we propose "Answerer in Questioner's Mind" (AQM), a novel information theoretic algorithm for goal-oriented dialog. With AQM, a questioner asks and infers based on an approximated probabilistic model of the answerer. The questioner figures out the answerer’s intention via selecting a plausible question by explicitly calculating the information gain of the candidate intentions and possible answers to each question. We test our framework on two goal-oriented visual dialog tasks: "MNIST Counting Dialog" and "GuessWhat? ". In our experiments, AQM outperforms comparative algorithms by a large margin.
Education, sex and risk of stroke: a prospective cohort study in New South Wales, Australia

Objective To determine whether the association between highest educational attainment and stroke differed by sex and age; and whether potential mediators of observed associations differ by sex. Design Prospective cohort study. Setting Population based, New South Wales, Australia. Participants 253 657 stroke-free participants from the New South Wales 45 and Up Study. Outcome measures First-ever stroke events, identified through linkage to hospital and mortality records. Results During mean follow-up of 4.7 years, 2031 and 1528 strokes occurred among men and women, respectively. Age-standardised stroke rate was inversely associated with education level, with the absolute risk difference between the lowest and highest education group greater among women than men. In relative terms, stroke risk was slightly more pronounced in women than men when comparing low versus high education (age-adjusted HRs: 1.41, 95% CI 1.16 to 1.71 and 1.25, 95% CI 1.07 to 1.46, respectively), but there was no clear evidence of statistical interaction. This association persisted into older age, but attenuated. Much of the increased stroke risk was explained by modifiable lifestyle factors, in both men and women. Conclusion Low education is associated with increased stroke risk in men and women, and may be marginally steeper in women than men. This disadvantage attenuates but persists into older age, particularly for women. Modifiable risk factors account for much of the excess risk from low education level. Public health policy and governmental decision-making should reflect the importance of education, for both men and women, for positive health throughout the life course.
Local Computation Algorithms for the Lovász Local Lemma

We consider the task of designing Local Computation Algorithms (LCA) for applications of the Lov\'{a}sz Local Lemma (LLL). LCA is a class of sublinear algorithms proposed by Rubinfeld et al. that have received a lot of attention in recent years. The LLL is an existential, sufficient condition for a collection of sets to have non-empty intersection (in applications, often, each set comprises all objects having a certain property). The ground-breaking algorithm of Moser and Tardos made the LLL fully constructive, following earlier works by Beck and Alon giving algorithms under significantly stronger LLL-like conditions. LCAs under those stronger conditions were given in the paper of Rubinfeld et al. and later work by Alon et al., where it was asked if the Moser-Tardos algorithm can be used to design LCAs under the standard LLL condition. The main contribution of this paper is to answer this question affirmatively. In fact, our techniques yields LCAs for settings beyond the standard LLL condition.
The Role of Maxillofacial Prosthetics for the Surgically Treated Patient at National Cancer Institute–Designated Comprehensive Cancer Centers

The current role of maxillofacial prosthetic care for head and neck cancer patients is not well understood. Additionally, perceived barriers for service provision are unknown. The purpose of this study was to evaluate the current role of maxillofacial prosthetic care at National Cancer Institute (NCI)–designated comprehensive cancer centers and to identify perceived barriers to care.
Socio-economic and health status as a predictor of apical periodontitis in adult patients in Croatia.

OBJECTIVE A few studies focused on determinants of apical periodontitis other than technical or biological factors. This research aimed to investigate to what extent socio-economic and health status can predict apical periodontitis in adult patients. SUBJECTS AND METHODS The cross-sectional study included 599 adult patients. Medical history, health habits and socio-economic status of each participant were recorded using a self-administered structured questionnaire. For caries detection, the World Health Organization diagnostic thresholds were used, and oral hygiene level was estimated using plaque index. Periapical index system was used to analyse the periapical status of all teeth. Dental, socio-economic and health-related variables were tested against dependent variable (periapical disease ratio) in a multiple linear regression analysis. RESULTS Dental independent variables explained 71.7% of the observed variation in periapical disease ratio (R2 = 0.717; p < 0.001). Periapical disease ratio increased with the increase in number of carious teeth, plaque index and number of root-filled teeth, but also with decrease in number of coronal fillings (all p < 0.001). Socio-economic and health-related variables accounted for lower portion of variability, 15.5% and 12.9%, respectively (both p < 0.001). CONCLUSIONS Dental variables are more important predictors of periapical status than socio-economic and health-related variables.
In-Edge AI: Intelligentizing Mobile Edge Computing, Caching and Communication by Federated Learning

Recently, along with the rapid development of mobile communication technology, edge computing theory and techniques have been attracting more and more attention from global researchers and engineers, which can significantly bridge the capacity of cloud and requirement of devices by the network edges, and thus can accelerate content delivery and improve the quality of mobile services. In order to bring more intelligence to edge systems, compared to traditional optimization methodology, and driven by the current deep learning techniques, we propose to integrate the Deep Reinforcement Learning techniques and Federated Learning framework with mobile edge systems, for optimizing mobile edge computing, caching and communication. And thus, we design the "In-Edge AI" framework in order to intelligently utilize the collaboration among devices and edge nodes to exchange the learning parameters for a better training and inference of the models, and thus to carry out dynamic system-level optimization and application-level enhancement while reducing the unnecessary system communication load. "In-Edge AI" is evaluated and proved to have near-optimal performance but relatively low overhead of learning, while the system is cognitive and adaptive to mobile communication systems. Finally, we discuss several related challenges and opportunities for unveili
YENİ MATEMATİK ÖĞRETİM PROGRAMLARI İLE İLGİLİ ARAŞTIRMALAR İÇİN 5N- 1K: LİSANSÜSTÜ TEZLER

Bu calismanin amaci, 2005-2010 yillari arasinda yeni matematik ogretimprogramlari (ilkogretim ve ortaogretim) ile ilgili olarak tamamlanmis yukseklisans ve doktora tezlerindeki egilimleri belirlemektir. Calisma analitik arastirma desenlerinden dokuman analizi yontemi kullanilarak gerceklestirilmistir. Bubaglamda 85 lisansustu tez 5N-1K sorulari kullanilarak incelenmistir. Dokumananalizi sonucunda arastirmacilarin cogunlukla ilkogretim matematik programiuzerinde calistiklari ve arastirmalarinda ogretim programinin butunune odaklandiklari belirlenmistir. Arastirma sayisinin 2008 yilina kadar artis gosterdigi,calisma sayisinin, cografi bolgeler acisindan bakildiginda, homojen bir dagilimgostermedigi ortaya cikmistir. Ayrica arastirmacilarin nicel arastirma desenini,ozellikle betimsel arastirma turlerinden biri olan tarama yontemini ve veri toplama metodu olarak anket kullanimini daha fazla tercih ettikleri anlasilmistir.Arastirma amaclarinin ise belirlemek, programi degerlendirmek, yeni yontemve yaklasimlar, ogretim materyalleri ve karsilastirma seklinde adlandirilantemalar altinda toplanabildigi anlasilmistir. Ek olarak incelenen lisansustu tezlerin yazarlarinin buyuk bir cogunlugunun ogretmen oldugu ortaya cikmistir
Rotary jet-spun porous microfibers as scaffolds for stem cells delivery to central nervous system injury

Transplanting stem cells into the central nervous system is a promising therapeutic strategy. However, preclinical trials of cell-based therapies are limited by poor local cell engraftment and survival. Here, we present a polylactic acid (PLA) scaffold to support delivery of mesenchymal stem cells (MSCs) in a mouse model of stroke. We isolated bone marrow MSCs from adult C57/Bl6 mice, cultured them on PLA polymeric rough microfibrous (PLA-PRM) scaffolds obtained by rotary jet spinning, and transplanted into the brains of adult C57/Bl6 mice, carrying thermocoagulation-induced cortical stroke. Interleukins (IL4, IL6 and IL10) and tumor necrosis factor alfa (TNFα) expression levels in the brain of mice that received PRM were similar to untreated. MSCs transplantation significantly reduced the area of the lesion and PRM delivery increased MSCs retention at the injury site. We conclude that PLA-PRM scaffolds offer a promising new system to deliver stem cells to injured areas of the brain. GRAPHICAL ABSTRACT Synthetic scaffolds offer an alternative to optimize stem cell transplantation at sites of brain injury. Here, we present a rotary jet spun polylactic acid (PLA) polymer used as a scaffold to support delivery of mesenchymal stem cells (MSCs) in a mouse model of stroke. Transplantation of MSCs isolated or cultured on PRM significantly reduced the area of the lesion and PRM delivery increased MSCs retention at the injury site.
Genetic regulation of plasma von Willebrand factor levels in health and disease

Plasma levels of the multimeric glycoprotein von Willebrand factor (VWF) constitute a complex quantitative trait with a continuous distribution and wide range in the normal population (50–200%). Quantitative deficiencies of VWF (< 50%) are associated with an increased risk of bleeding, whereas high plasma levels of VWF (> 150%) influence the risk of arterial and venous thromboembolism. Although environmental factors can strongly influence plasma VWF levels, it is estimated that approximately 65% of this variability is heritable. Interestingly, although variability in VWF can account for ~ 5% of the genetic influence on plasma VWF levels, other genetic loci also strongly modify plasma VWF levels. The identification of the additional sources of VWF heritability has been the focus of recent observational trait‐mapping studies, including genome‐wide association studies or linkage analyses, as well as hypothesis‐driven research studies. Quantitative trait loci influencing VWF glycosylation, secretion and clearance have been associated with plasma VWF antigen levels in normal individuals, and may contribute to quantitative VWF abnormalities in patients with a thrombotic tendency or type 1 von Willebrand disease (VWD). The identification of genetic modifiers of plasma VWF levels may allow for better molecular diagnosis of type 1 VWD, and enable the identification of individuals at increased risk for thrombosis. Validation of trait‐mapping studies with in vitro and in vivo methodologies has led to novel insights into the life cycle of VWF and the pathogenesis of quantitative VWF abnormalities.
A four‐gene‐based prognostic model predicts overall survival in patients with hepatocellular carcinoma

With the development of new advances in hepatocellular carcinoma (HCC) management and noninvasive radiological techniques, high‐risk patient groups such as those with hepatitis virus are closely monitored. HCC is increasingly diagnosed early, and treatment may be successful. In spite of this progress, most patients who undergo a hepatectomy will eventually relapse, and the outcomes of HCC patients remain unsatisfactory. In our study, we aimed to identify potential gene biomarkers based on RNA sequencing data to predict and improve HCC patient survival. The gene expression data and clinical information were acquired from The Cancer Genome Atlas (TCGA) database. A total of 339 differentially expressed genes (DEGs) were obtained between the HCC (n = 374) and normal tissues (n = 50). Four genes (CENPA, SPP1, MAGEB6 and HOXD9) were screened by univariate, Lasso and multivariate Cox regression analyses to develop the prognostic model. Further analysis revealed the independent prognostic capacity of the prognostic model in relation to other clinical characteristics. The receiver operating characteristic (ROC) curve analysis confirmed the good performance of the prognostic model. Then, the prognostic model and the expression levels of the four genes were validated using the Gene Expression Omnibus (GEO) dataset. A nomogram comprising the prognostic model to predict the overall survival was established, and internal validation in the TCGA cohort was performed. The predictive model and the nomogram will enable patients with HCC to be more accurately managed in trials testing new drugs and in clinical practice.