Miracle-dz/UniFAR-FTUs huggingface dataset:
Homozygous HOXB1 loss‐of‐function mutation in a large family with hereditary congenital facial paresis

Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21‐q22 (HCFP1) and a second to 10q21.3‐q22.1 (HCFP2). The only known causative gene for HCFP is HOXB1 (17q21; HCFP3), encoding a homeodomain‐containing transcription factor of the HOX gene family, which are master regulators of early developmental processes. The previously reported HOXB1 mutations change arginine 207 to another residue in the homeodomain and alter binding capacity of HOXB1 for transcriptional co‐regulators and DNA. We performed whole exome sequencing in HCFP‐affected individuals of a large consanguineous Moroccan family. The homozygous nonsense variant c.66C>G/p.(Tyr22*) in HOXB1 was identified in the four patients with HCFP and ear malformations, while healthy family members carried the mutation in the heterozygous state. This is the first disease‐associated HOXB1 mutation with a likely loss‐of‐function effect suggesting that all HOXB1 variants reported so far also have severe impact on activity of this transcriptional regulator. © 2016 Wiley Periodicals, Inc.
The International School Psychology Survey

Although school psychological services around the world are currently undergoing a period of rapid development, little comparative information is available about the training, roles and responsibilities of school psychologists or the contrasting contexts in which they work. Further information in this area should help new and established school psychological services to plan future developments. Therefore, in 2001-2002, the International School Psychology Association’s (ISPA) Research Committee developed and piloted the International School Psychology Survey (ISPS). Utilizing the survey format implemented by the National Association of School Psychologists in the USA to survey school psychologists across the country, the ISPA Research Committee members collaborated to design a survey appropriate for international colleagues. The ISPS was piloted in five countries: Albania, Cyprus, Estonia, Greece and Northern England. The data from the ISPS provides unique information regarding the profession of school psychology in each of these countries. These initial efforts and preliminary data provide a foundation for the future understanding of the characteristics, training, roles and responsibilities, challenges and research interests of school psychologists around the world.
A Peroxisome Proliferator-Activated Receptor γ-Retinoid X Receptor Heterodimer Physically Interacts with the Transcriptional Activator PAX6 to Inhibit Glucagon Gene Transcription

The peptide hormone glucagon stimulates hepatic glucose output, and its levels in the blood are elevated in type 2 diabetes mellitus. The nuclear receptor peroxisome proliferator-activated receptor-γ (PPARγ) has essential roles in glucose homeostasis, and thiazolidinedione PPARγ agonists are clinically important antidiabetic drugs. As part of their antidiabetic effect, thiazolidinediones such as rosiglitazone have been shown to inhibit glucagon gene transcription through binding to PPARγ and inhibition of the transcriptional activity of PAX6 that is required for cell-specific activation of the glucagon gene. However, how thiazolidinediones and PPARγ inhibit PAX6 activity at the glucagon promoter remained unknown. After transient transfection of a glucagon promoter-reporter fusion gene into a glucagon-producing pancreatic islet α-cell line, ligand-bound PPARγ was found in the present study to inhibit glucagon gene transcription also after deletion of its DNA-binding domain. Like PPARγ ligands, also retinoid X receptor (RXR) agonists inhibited glucagon gene transcription in a PPARγ-dependent manner. In glutathione transferase pull-down assays, the ligand-bound PPARγ-RXR heterodimer bound to the transactivation domain of PAX6. This interaction depended on the presence of the ligand and RXR, but it was independent of the PPARγ DNA-binding domain. Chromatin immunoprecipitation experiments showed that PPARγ is recruited to the PAX6-binding proximal glucagon promoter. Taken together, the results of the present study support a model in which a ligand-bound PPARγ-RXR heterodimer physically interacts with promoter-bound PAX6 to inhibit glucagon gene transcription. These data define PAX6 as a novel physical target of PPARγ-RXR.
Shoulder Pain and Disability Index: validation of Slovene version

The objective of this study was to translate the Shoulder Pain and Disability Index (SPADI) into Slovene language and assess its reliability and validity. A total of 52 participants with shoulder problems participated in the study. They filled in the questionnaire three times: at the first visit, after 2–7 days, and at the end of the therapy. Severity of perceived disability was self-rated on a four-point scale and passive shoulder range of motion was taken at the first and the last visit. Test–retest reliability and internal consistency of SPADI were tested by intraclass correlation coefficient and Cronbach's &agr;, respectively. Construct validity was evaluated using principal components analysis. Nonparametric group comparison was applied to assess criterion validity and standardized response mean calculations to evaluate responsiveness. The instrument demonstrated high test–retest reliability (intraclass correlation coefficient SPADI 0.94, pain subscale 0.89, and disability subscale 0.95) and high-to-moderate internal consistency (Cronbach's &agr; SPADI 0.92, pain subscale 0.78, and disability subscale 0.90). Principal components analysis without rotation proved construct validity of the total SPADI; varimax rotation yielded two factors with little support for separation into pain and disability dimensions. SPADI proved sensitive to differences in patients' ratings of perceived disability (P<0.001). Standardized response mean values were high (SPADI 2.19, pain subscale 1.83, and disability subscale 1.92) for patients experiencing improvement. The Slovene version of SPADI is a reliable and valid instrument. Support for separation into two dimensions is lacking, so we recommend the use of total SPADI score only.
Many-to-many exchange without money: why people share their resources

This paper extends our knowledge of the growing movement of collaborative consumption, or people sharing with others, in a collective shift away from the outright purchase of things. The focus of the study is on the sharing of land, one of our most widely held and debt-laden assets, for food production, a fundamental human need that has not been the topic of other collaborative consumption research. The research presents a netnographic study of the motivations to participate in Landshare, a non-profit scheme operating in the UK, Canada, and Australia, which “connects growers to people with land to share. ” The study finds there are significant social belonging and other benefits stemming from collaborative consumption and, in the case of Landshare, a new finding not previously reported in consumer behaviour research, of physical and mental health benefits. This expands the study of exchange as a consumer-to-consumer phenomenon, where no money changes hands.
Development and validation of the groupwork skills questionnaire (GSQ) for higher education

The aim of the present study was to develop and provide psychometric evidence in support of the groupwork skills questionnaire (GSQ) for measuring task and interpersonal groupwork skills. A 46-item version of the GSQ was initially completed by 672 university students. The number of items was reduced to 15 following exploratory factor analyses, and a two-factor model consisting of task and interpersonal groupwork skills was revealed. Confirmatory factor analyses with model re-specification on new data (n = 275 students) established that the best fitting model consisted of 10 items and the same two factors (task and interpersonal). Concurrent validity of the GSQ was then determined with 145 participants by demonstrating significant relationships (p < 0.05) with attitudes towards groupwork and groupwork self-efficacy. Test–retest reliability was examined over a one-week interval. Overall, the GSQ demonstrates good validity and reliability, and has potential for both research and pedagogical application.
An Empirical Study on Compositionality in Compound Nouns

A multiword is compositional if its meaning can be expressed in terms of the meaning of its constituents. In this paper, we collect and analyse the compositionality judgments for a range of compound nouns using Mechanical Turk. Unlike existing compositionality datasets, our dataset has judgments on the contribution of constituent words as well as judgments for the phrase as a whole. We use this dataset to study the relation between the judgments at constituent level to that for the whole phrase. We then evaluate two different types of distributional models for compositionality detection – constituent based models and composition function based models. Both the models show competitive performance though the composition function based models perform slightly better. In both types, additive models perform better than their multiplicative counterparts.
Fuzzy paraphrases in learning word representations with a lexicon

A synonym of a polysemous word is usually only the paraphrase of one sense among many. When lexicons are used to improve vector-space word representations, such paraphrases are unreliable and bring noise to the vector-space. The prior works use a coefficient to adjust the overall learning of the lexicons. They regard the paraphrases equally. In this paper, we propose a novel approach that regards the paraphrases diversely to alleviate the adverse effects of polysemy. We annotate each paraphrase with a degree of reliability. The paraphrases are randomly eliminated according to the degrees when our model learns word representations. In this way, our approach drops the unreliable paraphrases, keeping more reliable paraphrases at the same time. The experimental results show that the proposed method improves the word vectors. Our approach is an attempt to address the polysemy problem keeping one vector per word. It makes the approach easier to use than the conventional methods that estimate multiple vectors for a word. Our approach also outperforms the prior works in the experiments.
The Paradox of Social Organization: Networks, Collective Efficacy, and Violent Crime in Urban Neighborhoods

Theories of neighborhood social organization and crime have not effectively explained the existence of socially organized, high-crime neighborhoods. We describe and test an alternative theory of urban violence that highlights the tension between two dimensions of social organization — social networks (ties and exchange between neighborhood residents) and collective efficacy (mutual trust and solidarity combined with expectations for prosocial action) — in the regulation of neighborhood crime. We argue that while social networks may contribute to neighborhood collective efficacy, they also provide a source of social capital for offenders, potentially diminishing the regulatory effectiveness of collective efficacy. This negotiated coexistence model is considered alongside two competing theories of neighborhood crime drawn from the systemic and cultural transmission perspectives. We test these theories using 1990 census data, the 1994-95 Project on Human Development in Chicago Neighborhoods Community Survey, and 1995-97 Chicago Homicide Data. Consistent with the negotiated coexistence approach, spatial lag models of violent victimization and the 1995-97 log homicide rate indicate that the regulatory effects of collective efficacy on violence are substantially reduced in neighborhoods characterized by high levels of network interaction and reciprocated exchange.
Using the Web as a phonological corpus: A case study from Tagalog

Some languages' orthographic properties allow written data to be used for phonological research. This paper reports on an on-going project that uses a web-derived text corpus to study the phonology of Tagalog, a language for which large corpora are not otherwise available. Novel findings concerning the phenomenon of intervocalic tapping are discussed in detail, and an overview of other phonological phenomena in the language that can be investigated through written data is given.
Immunohistochemical criteria for endometrial receptivity in I/II stage endometriosis IVF-treated patients

Abstracts Background: Implantation failure of in vitro fertilization (IVF) cycles is recognized as one of key problems in contemporary reproductive medicine. Implantation itself is a multifactorial process and one can hardly expect to find a single criterion for the endometrium receptivity. Endometrium biopsy still remains the most applicable technique to diagnose abnormalities causing decrease or complete loss of endometrial receptivity. Materials and methods: We have studied 95 endometrial biopsy samples from 45 patient with I/II stage endometriosis and 40 controls from October 2014 to December 2015. Immunohistochemical analysis of key biological molecules participating in implant window formation (LIF, ER, PR, integrin, TGF-β1 and VEGF) was done to assess their predicting value for endometrial receptivity troubles. Results: The discriminant analysis demonstrated that highest information capacity was characteristic for LIF expression percent area, integrin αVβ3 both percent area and optic density in endometrial stroma and glands and finally TGFβ1 and VEGF-А percent area expression in endometrial stroma. The model test done on a checking group showed 89.1% correct discrimination. Cross-checking in a teaching group showed a bit lower but still high correct answer percentage (88.8%). A decision-making classification tree was worked out. Conclusion: The produced model is sufficient for predicting IVF treatment failure and allows producing reasonable treatment tactics as well as encourages IVF treatment effectiveness improvement in patients with endometriosis.
Fatal pulmonary haemorrhage in co-infection with dengue and leptospirosis

Leptospirosis is an emerging infectious disease with worldwide distribution. Its symptoms may mimic a number of other infections such as dengue, malaria, hepatitis and typhoid fever, particularly in tropical countries where these diseases are endemic. Similarly, dengue is an important infectious disease that poses as a public health emergency due to its rapid epidemic spread across the world. Here, we report a fatal case of dengue fever in a patient who was also serologically positive for leptospirosis. Co-infection of both dengue and leptospirosis can lead to an illness with overlapping symptoms and therefore present a clinical diagnostic dilemma to the treating physician. Hence, a high index of suspicion among clinicians is required, especially in high endemic areas. The optimal usage of antigen-based rapid diagnostic tests is essential to aid the clinicians to make timely and accurate diagnosis as well as to start appropriate treatment regimes.
Loughborough University Institutional Repository Scholarly output : print and digital-in teaching and research

Purpose This paper reports the outcomes of a JISC sponsored study (2007) to determine the current state and trends in different forms of scholarly output used in teaching and research; and the nature and extent of problems associated with their use. Design/methodology/approach A total of 60 UK HE institutions was chosen at random and a selection of departments within these were contacted. An online questionnaire was distributed to the selected departments; this resulted in responses from 304 academics across a broad range of subjects and institution types. Findings The study showed that printed output was still the preferred option in both teaching and research, although electronic journals now have a well established presence. Web-based material is increasingly provided in teaching and used in research but this includes primarily traditional tools such as reading lists and links to scholarly resources. Some content creation was evident. Use of web 2.0 was not extensive, although respondents were making use of Institutional Learning Environments. Academics were aware of IPR issues but not always clear about their responsibilities in this area. Research limitations/implications This study revealed an essentially conservative approach to the developments in digital information. This may have been due to the sample size which was relatively small, and the age profile which clustered around the 45-65 years range. In the case of research the influence of the RAE was clear. Originality/value No equivalent study has been reported on the transition between traditional and new forms of scholarly output used in teaching and research. In this fast developing area this research provides a benchmark for future studies. Category: research paper.
Deflection of Pulsar Signal Reveals Compact Structures in the Galaxy

We have detected a strong deflection of radio waves from the pulsar PSR B0834+06 in scintillation observations. Interference between the undeflected pulsar image and deflected subimages allows single-dish interferometry of the interstellar medium with submilliarcsecond resolution. We infer the presence of scattering structure(s) similar to those that are thought to cause extreme scattering events in quasar flux monitoring programs: size ~0.2 AU (an angular size of 0.1 mas) with an electron overdensity of ≳103 compared to the warm ionized medium. The deflectors are nearly stationary in a scattering screen that is thin (≲5% of the pulsar-observer distance in extent), is located 70% of the way from the Earth to the pulsar, and has been seen consistently in observations dating back 20 years. The pulsar scans the scattering screen at a velocity of 110 km s-1 with a detection radius of 15 mas. Pulsar observations such as these—particularly with a new generation of low-frequency radio telescopes with large collecting areas—hold promise for improving constraints on the poorly understood physical characteristics and space density of the deflecting structures. Such observations may also prove useful in correcting deviations that the deflectors produce in high-precision timing of millisecond pulsars.
College teacher immediacy and student ratings of instruction

This study examined the relationship between college student perceptions of teacher immediacy and student ratings of instruction. Two hundred sixty‐six students responded to instruments designed to measure the frequency of teachers' verbal and nonverbal immediacy behaviors and to gather students' perceptions of quality of instruction. Significant positive correlations were found between immediacy and student ratings of instruction. Students who observed frequent verbal and nonverbal immediacy behaviors in their professors were more inclined to give high ratings to such things as the overall quality of instruction and value of the course. In particular, verbal and nonverbal immediacy were strong predictors of ratings of faculty/student interaction and lectures/communication. Post hoc analyses confirmed that class size, subject area, and students' expected grade may influence immediacy scores as well as student ratings. The findings of this study have theoretical and methodological implications for instruct.
Classroom Language Use in a Multilingual Community--the Indo-Fijians in Fiji 1

This paper reports on language use patterns in eight primary schools in Fiji. It looks specifically at the schism between policy and practice in vernacular language use in the classroom for Indo-Fijians, who form nearly half of Fiji's population. Forty-eight Indo-Fijian children and their teachers were observed in multi- and mono-ethnic (Indo-Fijian) schools and in city, small town and rural schools. Indo-Fijians know Fiji Hindi as their mother tongue, English as the lingua franca and official language, learn Shudh Hindi/Urdu (SH/Urdu) at school and pick up Fijian from their neighbours and friends. SH/Urdu is the educationally acceptable mother tongue for use as the 'vernacular' language of instruction in the first 3 years of primary school. Indo-Fijians have limited proficiency in this language. The study looked at how each language was used in the classroom and for which functions as well as current student proficiencies in each language.
Detection of False Online Advertisements with DCNN

In addition to opinion spam, the overstated or unproven information in false advertisements could also mislead customers while making purchasing decisions. A false-advertisement judgement system aims at recognizing and explaining the illegal false advertisements. In this paper, we incorporate the convolutional neural network (CNN) with word embeddings and syntactic features in the system. The recognition experiments show that Dependency-based CNN (DCNN) achieves F-scores of 86.77%, 93.18%, and 87.46% in the cosmetics, food, and drug datasets, respectively. Moreover, the explanation of illegality experiments shows the F-scores of 56.19%, 50.36%, and 62.06% in the three datasets. Our judgement system can contribute to different roles in the online advertising.
enod40, a gene expressed during nodule organogenesis, codes for a non‐translatable RNA involved in plant growth.

Rhizobium meliloti can interact symbiotically with Medicago plants, thereby inducing root nodules. However, certain Medicago plants can form nodules spontaneously, in the absence of rhizobia. A differential screening was performed using spontaneous nodule versus root cDNAs from Medicago sativa ssp. varia. Transcripts of a differentially expressed clone, Msenod40, were detected in all differentiating cells of nodule primordia and spontaneous nodules, but were absent in fully differentiated cells. Msenod40 showed homology to a soybean early nodulin gene, Gmenod40, although no significant open reading frame (ORF) or coding capacity was found in the Medicago sequence. Furthermore, in the sequences of cDNAs and a genomic clone (Mtenod40) isolated from Medicago truncatula, a species containing a unique copy of this gene, no ORFs were found either. In vitro translation of purified Mtenod40 transcripts did not reveal any protein product. Evaluation of the RNA secondary structure indicated that both msenod40 and Gmenod40 transcripts showed a high degree of stability, a property shared with known non‐coding RNAs. The Mtenod40 RNA was localized in the cytoplasm of cells in the nodule primordium. Infection with Agrobacterium tumefaciens strains bearing antisense constructs of Mtenod40 arrested callus growth of Medicago explants, while overexpressing Mtenod40 embryos developed into teratomas. These data suggest that the enod40 genes might have a role in plant development, acting as ‘riboregulators’, a novel class of untranslated RNAs associated with growth control and differentiation.