Miracle-dz/UniFAR-FTUs huggingface dataset:
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.

PURPOSE To examine the ocular malformations and identify the molecular genetic basis for autosomal recessive ectopia lentis et pupillae in five Norwegian families. METHODS Ten affected persons and 11 first-degree relatives of five Norwegian families underwent ophthalmic and general medical examination. Molecular genetic studies included homozygosity mapping with SNP markers, DNA sequencing, and RT-PCR analysis. RESULTS Ocular signs in affected persons were increased median corneal thickness and astigmatism, angle malformation with prominent iris processes, displacement of the pupil and lens, lens coloboma, spherophakia, loss of zonular threads, early cataract development, glaucoma, and retinal detachment. No cardiac or metabolic abnormalities known to be associated with ectopia lentis were detected. Affected persons shared a 0.67 cM region of homozygosity on chromosome 1. DNA sequencing revealed a novel mutation in ADAMTSL4, c. 767_786del20. This deletion of 20 base pairs (bp) results in a frameshift and an introduction of a stop codon 113 bp downstream, predicting a C-terminal truncation of the ADAMTSL4 protein (p.Gln256ProfsX38). Expression of truncated ADAMTSL4 mRNA was confirmed by RT-PCR analysis. Three of 190 local blood donors were carriers of this mutation. CONCLUSIONS Ectopia lentis et pupillae is associated with a number of malformations primarily in the anterior segment of the eye. The causative mutation, which is the first to be described in ectopia lentis et pupillae, disrupts the same gene function previously shown to cause isolated ectopia lentis. The mutation is ancient and may, therefore, be spread to a much larger population than the investigated one.
Automated PET-only quantification of amyloid deposition with adaptive template and empirically pre-defined ROI

Amyloid PET is useful for early and/or differential diagnosis of Alzheimer’s disease (AD). Quantification of amyloid deposition using PET has been employed to improve diagnosis and to monitor AD therapy, particularly in research. Although MRI is often used for segmentation of gray matter and for spatial normalization into standard Montreal Neurological Institute (MNI) space where region-of-interest (ROI) template is defined, 3D MRI is not always available in clinical practice. The purpose of this study was to examine the feasibility of PET-only amyloid quantification with an adaptive template and a pre-defined standard ROI template that has been empirically generated from typical cases. A total of 68 subjects who underwent brain 11C-PiB PET were examined. The 11C-PiB images were non-linearly spatially normalized to the standard MNI T1 atlas using the same transformation parameters of MRI-based normalization. The automatic-anatomical-labeling-ROI (AAL-ROI) template was applied to the PET images. All voxel values were normalized by the mean value of cerebellar cortex to generate the SUVR-scaled images. Eleven typical positive images and eight typical negative images were normalized and averaged, respectively, and were used as the positive and negative template. Positive and negative masks which consist of voxels with SUVR ⩾1.7 were extracted from both templates. Empirical PiB-prone ROI (EPP-ROI) was generated by subtracting the negative mask from the positive mask. The 11C-PiB image of each subject was non-rigidly normalized to the positive and negative template, respectively, and the one with higher cross-correlation was adopted. The EPP-ROI was then inversely transformed to individual PET images. We evaluated differences of SUVR between standard MRI-based method and PET-only method. We additionally evaluated whether the PET-only method would correctly categorize 11C-PiB scans as positive or negative. Significant correlation was observed between the SUVRs obtained with AAL-ROI and those with EPP-ROI when MRI-based normalization was used, the latter providing higher SUVR. When EPP-ROI was used, MRI-based method and PET-only method provided almost identical SUVR. All 11C-PiB scans were correctly categorized into positive and negative using a cutoff value of 1.7 as compared to visual interpretation. The 11C-PiB SUVR were 2.30 ± 0.24 and 1.25 ± 0.11 for the positive and negative images. PET-only amyloid quantification method with adaptive templates and EPP-ROI can provide accurate, robust and simple amyloid quantification without MRI.
Strategic Investor Behaviour and the Volume-Volatility Relation in Equity Markets

We examine the volume-volatility relation using detailed data from a limit order driven equity market. Estimates of the intraday slope of the demand and supply schedules of the order book are found to capture regularities in spreads, trade size and submission strategies which are believed to be related to asymmetric information. On a daily level, the order book slope should also captures differences in dispersion of beliefs about stock values. The relationship between our daily slope measure and the contemporaneous volatility across companies and time supports models where strategic trading and dispersion of beliefs increase both volume and volatility.
Radiative Closure Experiments at a Cloud-Free Desert Site, Nevada, as Part of MISR Algorithm Validation

Radiative closure experiments involving a comparison between surface-measured spectral irradiance and the surface irradiance calculated according to a radiative transfer code at a desert site in Nevada under clear skies, yield the result that agreement between the two requires presence of an absorbing aerosol component with an imaginary refractive index equal to 0.03 and a 50:50 mix by optical depth of small and large particles with log-normal size distributions.
Density anomaly of charged hard spheres of different diameters in a mixture with core-softened model solvent. Monte Carlo simulation results

Very recently the effect of equisized charged hard sphere solutes in a mixture with core-softened fluid model on the structural and thermodynamic anomalies of the system has been explored in detail by using Monte Carlo simulations and integral equations theory [J. Chem. Phys., 2012, 137, 244502]. Our objective of the present short work is to complement this study by considering univalent ions of unequal diameters in a mixture with the same soft-core fluid model. Specifically, we are interested in the analysis of changes of the temperature of maximum density (TMD) lines with ion concentration for three model salt solutes, namely sodium chloride, potassium chloride and rubidium chloride models. We resort to Monte Carlo simulations for this purpose. Our discussion also involves the dependences of the pair contribution to excess entropy and of constant volume heat capacity on the temperature of maximum density line. Some examples of the microscopic structure of mixtures in question in terms of pair distribution functions are given in addition.
Predicting Marital and Career Success among Dual-Worker Couples

Research is reviewed which is both supportive and skeptical of the assumptions of theories based upon status competition processes, status incompatibility, complementary needs, and threat to gender identity which posit that stress is created in marriages where the wife's occupational achievements exceed the husband's. A theory is posited to explain which couples will or will not succeed in this circumstance. The theory suggests change will be initiated when role performances of self and other are not consistent with the role expectations and self-concepts of the partners. The gender identities of both partners are considered critical variables determining the ability of spouses to sustain a marriage in which wife's attainments are greater. When one or both spouses have traditional gender identities, pressure for change will result when the occupational achievements of the wife exceed those of the husband; when both have androgynous gender identities, the partners are more likely to be comfortable with this condition.
Extinction controlled adaptive phase-mask coronagraph

Context. Phase-mask coronagraphy is advantageous in terms of inner working angle and discovery space. It is however still plagued by drawbacks such as sensitivity to tip-tilt errors and chromatism. A nulling stellar coronagraph based on the adaptive phase-mask concept using polarization interferometry is presented in this paper. Aims. Our concept aims at dynamically and achromatically optimizing the nulling efficiency of the coronagraph, making it more immune to fast low-order aberrations (tip-tilt errors, focus, .). Methods. We performed numerical simulations to demonstrate the value of the proposed method. The active control system will correct for the detrimental effects of image instabilities on the destructive interference. The mask adaptability both in size, phase and amplitude also compensates for manufacturing errors of the mask itself, and potentially for chromatic effects. Liquid-crystal properties are used to provide variable transmission of an annulus around the phase mask, but also to achieve the achromatic {\pi} phase shift in the core of the PSF by rotating the polarization by 180 degrees. Results. We developed a new concept and showed its practical advantages using numerical simulations. This new adaptive implementation of the phase-mask coronagraph could advantageously be used on current and next-generation adaptive optics systems, enabling small inner working angles without compromising contrast.
Draft Genome Sequence of “Candidatus Hepatoplasma crinochetorum” Ps, a Bacterial Symbiont in the Hepatopancreas of the Terrestrial Isopod Porcellio scaber

ABSTRACT “Candidatus Hepatoplasma crinochetorum” Ps is an extracellular symbiont residing in the hepatopancreas of the terrestrial isopod Porcellio scaber. Its genome is highly similar to that of the close relative “Ca. Hepatoplasma crinochetorum” Av from Armadillidium vulgare. However, instead of a clustered regularly interspaced short palindromic repeat (CRISPR)-Cas system, it encodes a type I restriction modification system.
Best Affine Approximations of Boolean Functions and Applications to Low Order Approximations

Low order approximations of Boolean functions are studied in this paper. In particular, best affine approximations of quadratic functions are analyzed using Dickson theorem, leading to an explicit formula for their direct computation, without using the Walsh transform. Expressions to determine all the best affine approximations of linear combinations of quadratic functions are proved. The tools developed are suitable to determining low order approximations; they are applied to certain low degree functions with arbitrary number of variables and allow to efficiently derive all of their best quadratic approximations.
Study on the intelligent extraction of seismic damage based on the Mean-Shift segmentation

The limitations of parameter determination manually exist in the current object based image analysis (OBIA) of the commercial software, such as Definiens eCognition or ENVI FX, In this paper, an intelligent method based on Mean-Shift and support vector machines (SVM) algorithm of OBIA is proposed to extract the building damage caused by catastrophic earthquakes, which aims to improve the accuracy of classification and get the best bandwidth parameter of the Mean-Shift segmentation automatically by computing the Kappa index that has been used in a feedback loop. The improved method is applied to extract seismic damage information in a test area of the city of Dujiangyan after the 2008 Wenchuan earthquake by using post-earthquake aerial images acquired on May 18, 2008. The results of the experiments indicate that the improved OBIA is more effective and robust than traditional method of OBIA.
Memória de trabalho na esquizofrenia e sua correlação com habilidades de funções executivas

Objective: Studies have shown that patients with schizophrenia display an extensive range of cognitive deficits. However few studies have replicated finds of specific patterns of impairments in a Brazilian sample. This work aimed to assess auditory and visual working memory (WM) and to verify the relationships of these abilities with those related to executive functions. Method: Twenty subjects with schizophrenia and twenty healthy subjects matched by gender, age and degree of scholarship participated. The abilities assessed were auditory and visual WM, selective attention, inhibitory control, cognitive flexibility, and planning. Results: Patients showed declines in all measures evaluated, except on flexibility and reaction time of response of inhibitory control performances. All measures of auditory WM were significantly correlated to all those of executive functions, whereas visual WM only correlated to flexibility. Conclusion: Since cognitive impairment is a core feature of schizophrenia, no intervention can be considered effective unless it also targets this domain. The results of the present study support the use of WM and executive functions in the development of new strategies of intervention in Brazilian sample of patients and add data to the poor scientific literature about WM, executive functions, and schizophrenia in Brazil. Key-words: Working memory, executive functions, schizophrenia, neuropsychological assessment.
Systematic clinical examinations for identification of latent udder health types in Danish dairy herds.

A cross-sectional study was conducted to explore the applicability of systematic clinical examinations of udders as an additional tool for the evaluation of udder health status on dairy farms. During 2000, each of the 16 dairy farms was visited 5 times; 20 cows per farm were chosen at random at each visit for clinical udder examination immediately after milking. The clinical examination included both pathological and morphological variables. One examination per cow was included in the analysis (n = 707 cows). Principal component analysis (PCA) was performed in 3 steps. First, 19 variables characterizing udder and teats were analyzed (PCA 1). Second, the variables parity and stage of lactation were included (PCA 2). Finally, somatic cell count (SCC) and milk yield (PCA 3) were included. The PCA resulted in 4 components that explained 30% of the variation of the data: 1) small udder, 2) distressed udder, 3) mastitis udder, and 4) soiled udder. Variables with high positive correlation to the "small udder" were small udder shape, short teats, and first parity. Impaired teat surface, hard udder texture, and a long udder shape were related to the "distressed udder. " The "mastitis udder" was characterized by the clinical variables asymmetry between front quarters, asymmetry between hind quarters, knotty tissue, and acute clinical mastitis. Reduced milk yield and high SCC were related to the "mastitis udder," whereas low SCC was related to the "small udder. " The "soiled udder" was related to early lactation. Including this information in the assessment of udder health may be of substantial value for data analysis in farms with suspected under-reporting of clinical mastitis.
Developmental differences in repeated visual search as modulated by signal to noise ratio

This dissertation studied developmental differences in the way simultaneous and sequential signal to noise ratios impact contextual cueing effects. Contextual cueing refers to a form of implicit associative learning of the target location and its context. Over repeated exposures, participants typically respond faster to repeated displays than to new displays that are not repeated. Previous studies have suggested that children and adults are differentially sensitive to noise (irrelevant distracters) in the displays. The current study incorporated two forms of signal to noise ratio (S/N): simultaneous S/N, defined as the ratio of predictive and unpredictive distracters within each display; and sequential S/N, defined as the ratio of repeated and new displays within each block. Three age groups participated in the study: 6-8 year old children, 10-12 year old children and college students. The results suggested that all three groups demonstrated significant and comparable contextual cueing effects across three S/N ratio conditions in the simultaneous condition. The analysis of search efficiency also suggested that all three groups demonstrated guided search. Therefore, no developmental difference was found in the simultaneous condition. The results in the sequential condition suggested that adults demonstrated significant contextual cueing effects across all three ratio conditions. Older children demonstrated significant contextual cueing effects in the high and medium conditions but only marginally significant learning in the low condition. By contrast, younger children only demonstrated significant learning in the high and medium conditions, but not in the low condition. Hence, there was a significant developmental difference in the sequential condition. iii Explicit memory tests suggested no conscious awareness about the repetition for any age group in any condition. The results suggested that adults have an intact ability to extract repeated information from the information stream, as long as it is at least 33% predictive. Contextual cueing is hence a relatively robust form of implicit learning. Children's intact learning in the simultaneous condition might have reflected their relatively mature selective attention mechanisms. Children's impairment in the sequential condition might be due to their immature working memory. The practical and methodological implications of this dissertation were also discussed. iv DEDICATION This dissertation is dedicated to my late maternal grandfather, for his love and inspiration. v LIST OF ABBREVIATIONS AND SYMBOLS a Cronbach's index of internal consistency df Degrees of freedom: number of values free to vary after certain restrictions have been placed on the data F Fisher's F ratio: A ration of …
SmartEye: Real-time and efficient cloud image sharing for disaster environments

Rapid disaster relief is important to save human lives and reduce property loss. With the wide use of smartphones and their ubiquitous easy access to the Internet, sharing and uploading images to the cloud via smartphones offer a nontrivial opportunity to provide information of disaster zones. However, due to limited available bandwidth and energy, smartphone-based crowdsourcing fails to support the real-time data analytics. The key to efficiently and timely share and analyze the images is to determine the value/worth of the images based on their significance and redundancy, and only upload those valuable and unique images. In this paper, we propose a near-realtime and cost-efficient scheme, called SmartEye, in the cloud-assisted disaster environment. The idea behind SmartEye is to implement QoS-aware in-network deduplication over DiffServ in the software-defined networks (SDN). Due to the ease of use, simplicity and scalability, DiffServ supports the in-network deduplication to meet the needs of differentiated QoS. SmartEye aggregates the flows with similar features via a semantic hashing, and provides communication services for the aggregated, not a single, flow. To achieve these goals, we leverage two main optimization schemes, including semantic hashing and space-efficient filters. Efficient image sharing is helpful to disaster detection and scene recognition. To demonstrate the feasibility of SmartEye, we conduct two real-world case studies in which the loss in Typhoon Haiyan (2013) and Hurricane Sandy (2012) can be identified in a timely fashion by analyzing massive data consisting of more than 22 million images using our SmartEye system. Extensive experimental results illustrate that SmartEye is efficient and effective to achieve real-time analytics in disasters.
What patients do and their impact on implementation.

PURPOSE The potential for including patients in implementation processes has received limited attention in the literature. The purpose of this paper is to explore the different roles adopted by 63 patients that emerged during and after four participatory quality improvement interventions, and the nature of their impact upon implementation processes and outcomes. DESIGN/METHODOLOGY/APPROACH A cross-case ethnographic comparison of Experience-based Co-design in two clinical pathways in two UK NHS Trusts. FINDINGS Two key themes emerge from the data. First, the authors found a range of different roles adopted by patients within and across the four projects; some were happy to share their experiences, others also helped to identify improvement priorities alongside staff whilst others were also involved in developing potential solutions with the staff who had cared for them. A few participants also helped implement those solutions and became "experts by experience" through engaging in the whole co-design process. Second, in terms of the impact of patient engagement with the co-design process whilst the changes championed by patients and carers were often small scale, as co-designers patients provided innovative ideas and solutions. Through their involvement and contributions they also acted as catalysts for broader change in the attitudes of staff by providing a motivation for wider organisational and attitudinal changes. RESEARCH LIMITATIONS/IMPLICATIONS The research was conducted in two clinical pathways in two NHS trusts. However, the findings complement and add to the growing body of knowledge on experience based co-design. PRACTICAL IMPLICATIONS Patient engagement is likely to require support and facilitation to ensure that patients can play a meaningful role as partners and co-designers in service improvement and implementation. Different roles suited particular individuals, with participants stepping in and out of the co-design process at various stages as suited their needs, capacities and (albeit sometimes perceptions re) skills. In this context, facilitation needs to be sensitive to individual needs and flexible to support involvement. SOCIAL IMPLICATIONS Patients and carers can play active roles in service improvement, particularly where the approach facilitate active engagement as co-designers. ORIGINALITY/VALUE Analysis of the role patients and carers in implementation and improvement.
Another Look at the Stock Return Response to Monetary Policy Actions

I analyze the effect of monetary policy actions on the cross-section of equity returns. Based on earlier theoretical work for the monetary transmission mechanism one can argue that changes in monetary policy should produce differentiated effects on firms and stocks with different characteristics. By using different portfolio sorts the results show that the impact of monthly changes in the Federal funds rate is greater for the returns of more financially constrained stocks (e.g., small and value stocks) than on the returns of stocks with a more favorable financial position (e.g., large and growth stocks). By using a VAR methodology, the results indicate that the negative effect of Fed funds rate shocks on stock returns comes from a corresponding negative effect on future expected cash flows (cash-flow news), which is stronger than the impact on future equity risk premia (discount rate news). Thus, cash-flow news is the main return component affected by changes in the Fed funds rate. These results are reasonably robust to different VAR specifications. Moreover, the dispersion in return responses to monetary shocks across stocks is explained by a similar dispersion in the effects into cash-flow news, which outweighs the dispersion in discount rate news betas. These results represent new evidence on the effect of monetary policy on stock prices and on the monetary transmission mechanism.