Miracle-dz/UniFAR-FTUs huggingface dataset:
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1

Thanatophoric dysplasia is a type of short‐limbed neonatal dwarfism that is usually lethal in the perinatal period. It is characterized by short limbs, a narrow, bell‐shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies. These malformations result from autosomal dominant mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. In this report, we describe a novel FGFR3 insertion mutation in a fetus with shortened limbs, curved femurs, and a narrow thorax. The diagnosis of thanatophoric dysplasia type 1 was suspected clinically, and FGFR3 sequencing showed a c. 742_743insTGT variant, which predicts p.R248delinsLC. In vivo studies in zebrafish demonstrated that this mutation resulted in the overexpression of zebrafish Fgfr3, leading to the over‐activation of downstream signaling and dorsalized embryos. To date, no insertions or deletions in FGFR3 have been reported to cause thanatophoric dysplasia types 1 or 2; therefore, this represents the first report to describe such a mutation. © 2016 Wiley Periodicals, Inc.
Efficient wordgraph for interactive translation prediction

When applying interactive translation prediction in real-life scenarios, response time is critical for the users to accept the interactive translation prediction system as a potentially useful tool. In this paper, we report on three different strategies for reducing the computation time required by a state-of-the-art interactive translation prediction system, so that automatic completions are delivered in real time. The best possibility turns out to be to directly prune the wordgraphs derived from the search procedure, achieving real-time response rates without any degradation whatsoever in the quality of the completions provided.
An Efficient Insertion Control Method for Precision Assembly of Cylindrical Components

In this paper, an efficient insertion control strategy is presented for precision assembly of cylindrical components with interference fit. It has two inherent advantages compared with existing insertion methods in the domain of precision assembly. First, it does not need preparatory actions dedicated for horizontal forces before insertion actions, which is realized by integrating the preparations into the insertion step. Second, instead of inserting with fixed incremental depth, it estimates the insertion depth for every action to be as large as possible with a probabilistic approach. Specifically, the insertion of components is modeled as a stochastic state transition process with the uncertainty described by Gaussian distribution. The state transition function is well defined based on analysis of the historical assembly data and the universal mechanical properties of the components. An assessment function is also elaborately designed to evaluate the performance of the state transition function in order to stimulate the control strategy to behave progressively or conservatively. Finally, the action to be taken for the current state is decided by iterative calculations in N steps estimation manner. An automatic assembly system is developed to verify the effectiveness of the proposed control method. Experimental results show that the assembly process with the proposed insertion control strategy can finish within 30 steps, which is at least four times more efficient than the process with the traditional method.
WAVE3, an actin remodeling protein, is regulated by the metastasis suppressor microRNA, miR‐31, during the invasion‐metastasis cascade

WAVE3, an actin cytoskeleton remodeling protein, is highly expressed in advanced stages of breast cancer and influences tumor cell invasion. Loss of miR‐31 has been associated with cancer progression and metastasis. Here, we show that the activity of WAVE3 to promote cancer cell invasion is regulated by miR‐31. An inverse correlation was demonstrated between expression levels of WAVE3 and miR‐31 in invasive versus noninvasive breast cancer cell lines. miR‐31 directly targeted the 3'‐UTR of the WAVE3 mRNA and inhibited its expression in the invasive cancer cells, i.e., miR‐31‐mediated down‐regulation of WAVE3 resulted in a significant reduction in the invasive phenotype of cancer cells. This relationship was specific to the loss of WAVE3 expression because re‐expression of a miR‐31‐resistant form of WAVE3 reversed miR‐31‐mediated inhibition of cancer cell invasion. Furthermore, expression of miR‐31 correlates inversely with breast cancer progression in humans, where an increase in expression of miR‐31 target genes was observed as the tumors progressed to more aggressive forms. In conclusion, a novel mechanism for the regulation of WAVE3 expression in cancer cells has been identified, which controls the invasive properties of cancer cells. The study also identifies a critical role for WAVE3, downstream of miR‐31, in the invasion‐metastasis cascade.
Alumnado con enfermedades poco frecuentes y escuela inclusiva

La inclusion educativa es hoy el reto de nuestro sistema educativo y una tarea indispensable para una sociedad inclusiva. Debemos trabajar para lograr una escuela de calidad para para todas las personas, una escuela que incluya tambien a los ninos y las ninas con una enfermedad poco frecuente. "Alumnado con enfermedades poco frecuentes y escuela inclusiva" es un estudio que ha puesto en primer plano la voz del alumnado con enfermedades poco frecuentes y de sus familiares a la hora de analizar las politicas educativas, sanitarias y de servicios sociales con el fin de conseguir una escuela (y, por consiguiente, una sociedad) mas inclusiva. Esta investigacion pretende mostrar los «brillos» en las historias de las personas con una enfermedad poco frecuente, historias que permiten subrayar las ganas de participar con pleno derecho en todos los espacios en los que se toman las decisiones que afectan a sus vidas y, a la vez, recoger las buenas practicas profesionales que se han encontrado en sus trayectorias vitales. Es un libro dirigido a familias y profesionales de la educacion y de la red sanitaria y social preocupados por mejorar su intervencion. El trabajo ha sido realizado con la participacion de equipos de investigacion de varias universidades publicas, coordinado por el equipo INKLUNI de la Universidad del Pais Vasco/Euskal Herriko Unibertsitatea, y con el apoyo de FEDER con el objetivo de analizar las necesidades derivadas de la escolarizacion de ninos, ninas y jovenes con enfermedades poco frecuentes en centros escolares de ocho comunidades autonomas del Estado espanol.
Impact of Quality Circle Towards Employees & Organization A CASE STUDY

This study is an attempt to focus on the impact of quality circle towards employees & organization. Employee’s attitude towards participative management is also discussed in detail through the case study. The observed data are analyzed through cause-effect diagram, Pareto-diagram etc. The results and findings are not only amazing but also beneficial to both employees & organization. It results in Drastic reduction in wastage, considerable increase in average saving, minimizing financial losses, and increased employee’s motivation. By operating machine with care and minimizing wastage, the production & hence productivity increases considerably. It also aims individual as well as group development by bringing out hidden capabilities of the employees, their change in attitude, skill development & good team relationship. It enhanced the quality of the output & services. Significance and perception of training with good leadership qualities are the success of quality circle in any organization. This study reveals & suggests that the positive attitude will be developed. It leads to overall improvement in organizational culture as well as performance of employees.
Children's Production on Verbal and Non-Verbal Fluency Tasks

Children aged 6 to 13 yr. were given verbal and non-verbal fluency tasks as well as the Vocabulary and Block Design subtests of the WISC-R. The results, providing normative data, showed that the fluency tasks are age-, but not sex-dependent, and are only modestly correlated to one another and to standard measures of intelligence.
The Role of Crustaceans within an Integrated Mosquito Control Management

Larvae of Cx.pipiens coocurred with Cladocera, but the latter established delayed in time. Biotope structure influenced time of species occurrence with ponds at reed-covered wetlands favouring crustacean development, while ponds at grassland biotopes favoured colonization by mosquito larvae. The mechanisms driving the negative effect of crustaceans on mosquito larvae were investigated within an experiment under artificial conditions. Crustacean communities were found to reduce both oviposition and larval development of Cx.pipiens. Crustacean communities of high taxa diversity, including both predatory and competing crustaceans, were more effective compared with crustacean communities dominated by single taxa. Presence of crustacean communities characterised by high taxa diversity increased the sensitivity of Cx.pipiens larvae towards Bti and prolonged the time of recolonization. In a final step the combined approach, using Bti and crustaceans, was evaluated under field conditions. The joint application of Bti and crustaceans was found to reduce mosquito larval populations over the whole observation period, while single application of Bti caused only short-term reduction of mosquito larvae. Single application of crustaceans had no significant effect, because high abundances of prior established mosquito larvae impeded propagation of crustaceans. At combined treatment, mosquito larvae were reduced by Bti application and hence crustaceans were able to proliferate without disturbance by interspecific competition. In conclusion, natural competitors were found to have a strong negative impact on mosquito larval populations. However, a time span of about 2 weeks has to be bridged, before crustacean communities reached a level sufficient for mosquito control. Results of a combined approach, complementing the short-term effect of the biological insecticide Bti with the long-term effect of crustaceans, were promising. Using natural competitors within an integrated control strategy could be an important tool for an effective, environmentally friendly and sustainable mosquito management.
Predictors of Intra-Hospital Mortality in Patients with Cirrhosis

Intra-hospital mortality in cirrhotic patients is variable depending on the studies reported in literature. Several studies have demonstrated independent predictors of mortality. The aim of this work is indeed to identify these predictors. Patients and Methods: We conducted a retrospective study of 1080 cirrhotic patients hospitalized in our department of gastroenterology and hepatology between January 2001 and August 2010. A descriptive study of the study population was performed, and a univariate analysis looking for an association between intra-hospital mortality, and clinical, biological, etiological and sociodemographic characteristics of our patients. Results: The average age of our patients was 54 years, with an equal number of men and women. 41.1% of patients had cirrhosis secondary to hepatitis C and 18.5% had cirrhosis secondary to hepatitis B. 26.1% of our patients were CHILD C. Intra-hospital mortality was 8.7% (97 deaths) with a mean of 23.4 ± 35.8 months. Univariate analysis showed that the intra-hospital mortality was significantly associated with higher age (p = 0.049) as well as the reasons for admissions like hepatic encephalopathy, and hematemesis (p < 0.0001), melena, jaundice and ascites (p = 0.001). Among the biological parameters analyzed in univariate analysis, significant associations with mortality were objectified for high white blood cell count (p = 0.035), and high serum bilirubin and creatinine (p < 0.0001); low rate of prothrombin time (PT) (p < 0.0001), of albumin (p = 0.0001) and of serum sodium (p < 0.0001). Among the complications analyzed, significant associations with mortality were objectified for jaundice, ascites (p = 0.001), hemorrhagic decompensation, hepatic encephalopathy, and spontaneous bacterial peritonitis (p < 0.001). Univariate analysis of the etiology of cirrhosis objectified significant associations for cirrhosis secondary to hepatitis B (p = 0.001) and hepatitis C (p = 0.022). Multivariate analysis objectified four independent predictors of mortality: hepatic encephalopathy, infection (hyper leukocytosis ≥ 10,000/mm3), renal failure (serum creatinine ≥ 15 mg/l) and hyponatremia. Conclusion: In our series, we identified four independent predictors of intra-hospital mortality in cirrhotic patients: hepatic encephalopathy, infection, renal failure and hyponatremia.
Roles of Bmp4 during tooth morphogenesis and sequential tooth formation

Previous studies have suggested that Bmp4 is a key Msx1-dependent mesenchymal odontogenic signal for driving tooth morphogenesis through the bud-to-cap transition. Whereas all tooth germs were arrested at the bud stage in Msx1–/– mice, we show that depleting functional Bmp4 mRNAs in the tooth mesenchyme, through neural crest-specific gene inactivation in Bmp4f/f;Wnt1Cre mice, caused mandibular molar developmental arrest at the bud stage but allowed maxillary molars and incisors to develop to mineralized teeth. We found that expression of Osr2, which encodes a zinc finger protein that antagonizes Msx1-mediated activation of odontogenic mesenchyme, was significantly upregulated in the molar tooth mesenchyme in Bmp4f/f;Wnt1Cre embryos. Msx1 heterozygosity enhanced maxillary molar developmental defects whereas Osr2 heterozygosity partially rescued mandibular first molar morphogenesis in Bmp4f/f;Wnt1Cre mice. Moreover, in contrast to complete lack of supernumerary tooth initiation in Msx1–/–Osr2–/– mice, Osr2–/–Bmp4f/f;Wnt1Cre compound mutant mice exhibited formation and subsequent arrest of supernumerary tooth germs that correlated with downregulation of Msx1 expression in the tooth mesenchyme. In addition, we found that the Wnt inhibitors Dkk2 and Wif1 were much more abundantly expressed in the mandibular than maxillary molar mesenchyme in wild-type embryos and that Dkk2 expression was significantly upregulated in the molar mesenchyme in Bmp4f/f;Wnt1Cre embryos, which correlated with the dramatic differences in maxillary and mandibular molar phenotypes in Bmp4f/f;Wnt1Cre mice. Together, these data indicate that Bmp4 signaling suppresses tooth developmental inhibitors in the tooth mesenchyme, including Dkk2 and Osr2, and synergizes with Msx1 to activate mesenchymal odontogenic potential for tooth morphogenesis and sequential tooth formation.
Folate supplementation in three genetic models: Implications for understanding folate‐dependent developmental pathways

Supplementation of a pregnant mother's diet with folate has been shown to protect the developing embryo from birth defects in humans as well as rodent animal models. Folate supplementation not only reverses a potential nutritional deficiency; folate effectively prevents defects even when the mother's nutritional status is normal. These findings indicate that folate is able to interact with the molecular pathways that control normal embryonic development. Supplementation studies in animals provide the experimental starting point for the identification of such folate‐responsive pathways. This review summarizes the progress to date in understanding the folate response in genetic models of birth defects in the mouse. © 2005 Wiley‐Liss, Inc.
A Registration Scheme for Multispectral Systems Using Phase Correlation and Scale Invariant Feature Matching

In the past few years, many multispectral systems which consist of several identical monochrome cameras equipped with different bandpass filters have been developed. However, due to the significant difference in the intensity between different band images, image registration becomes very difficult. Considering the common structural characteristic of the multispectral systems, this paper proposes an effective method for registering different band images. First we use the phase correlation method to calculate the parameters of a coarse-offset relationship between different band images. Then we use the scale invariant feature transform (SIFT) to detect the feature points. For every feature point in a reference image, we can use the coarse-offset parameters to predict the location of its matching point. We only need to compare the feature point in the reference image with the several near feature points from the predicted location instead of the feature points all over the input image. Our experiments show that this method does not only avoid false matches and increase correct matches, but also solve the matching problem between an infrared band image and a visible band image in cases lacking man-made objects.
A HARD TIME TO DATE: THE SCOTT COUNTY PUEBLO (14SC1) AND PUEBLOAN RESIDENTS OF THE HIGH PLAINS

During the seventeenth and eighteenth centuries, Puebloan women (if not entire families) were incorporated into Apache Dismal River communities in western Kansas. In at least one site (14SC1), Puebloan people lived in a small masonry pueblo. We evaluate the timing and nature of the Puebloan occupation at 14SC1 and its relationship to the Dismal River population at the site. We use a Bayesian analytical framework to evaluate different models of the pueblo's use history, constraining 12 radiocarbon dates by their stratigraphic data and then comparing this framework with different temporal models based on the historical record. We conclude that Dismal River people lived at 14SC1 prior to the appearance of Pueblo migrants, sometime between cal AD 1490 and 1650. Construction and early use of the pueblo by migrants from the Rio Grande valley occurred between cal AD 1630 and 1660, and the pueblo was closed by burning sometime between cal AD 1640 and 1690. Site 14SC1 lacks Rio Grande Glaze Ware, and its residents seem rarely to have engaged with the groups in the Southern Plains Macroeconomy. Our results contribute to studies of indigenous community formation and Puebloan residential mobility during the Spanish colonial period. Durante los siglos XVII y XVIII, las mujeres Pueblo (o posiblemente familias enteras) fueron incorporadas a las comunidades Apaches de la cultura Dismal River en Kansas occidental. Por lo menos en un sitio (14SC1), los indígenas Pueblo vivieron en un pequeño poblado de mampostería. Evaluamos la cronología y la naturaleza de la ocupación Pueblo en 14SC1 y su relación con la ocupación Dismal River en el sitio. Usamos un marco analítico bayesiano para evaluar diferentes modelos de la cronología ocupacional del pueblo, delimitando los rangos de doce fechas de radiocarbono por sus posiciones estratigráficas y luego comparando este marco con diferentes modelos temporales basados en el registro histórico. Concluimos que los indígenas Dismal River vivieron en 14SC1 antes de la aparición de los migrantes Pueblo en algún momento entre 1490 y 1650 cal dC. La construcción y el uso inicial del pueblo por migrantes procedentes del valle del Río Grande ocurrió entre 1630 y 1660 cal dC, y el pueblo fue cerrado por un incendio entre 1640 y 1690 cal dC. El sitio 14SC1 carece de vajillas del estilo Río Grande con engobe, y sus residentes parecen haber tenidos interacciones limitadas con los grupos que participaron en la macroeconomía de las Planicies del Sur. Nuestros resultados contribuyen al estudio de la formación de comunidades indígenas y la movilidad residencial Pueblo durante el período colonial español.
Drawing on Museums: Early Visual Fieldnotes by Franz Boas and the Indigenous Recuperation of the Archive

In the first decade of his Northwest Coast fieldwork (1886–1897), Franz Boas made and commissioned a series of research drawings of Kwakwaka’wakw (Kwakiutl) objects held by museums in Berlin and elsewhere. Using them as elicitation tools, Boas added primary fieldnotes (in German, English, and Kwak’wala) directly onto them, providing a basis for his earliest publications on anthropological theory and methods as well as Kwakwaka’wakw art, song, and ceremony. Until recently, however, these visual fieldnotes—long relegated to the archive—have been severed from both the museum collections and Boas’s foundational ethnographic research. In this essay, I discuss the drawings in the context of current collaborative efforts to document historic ethnographic materials with the Kwakwaka’wakw, who are recuperating such anthropological and archival resources in support of current cultural production and ceremonial revitalization. [ethnographic methods, museums, history of anthropology, Franz Boas,
In vitro generation of lymphoid precursors from embryonic stem cells.

Murine embryonic stem (ES) cells represent a model system for studying certain aspects of hemopoiesis because they can differentiate in vitro into several cell types, including those of the hemopoietic system. We developed cell culture conditions in which ES cells undergo hemopoietic differentiation in a low‐oxygen (5% O2) atmosphere without additional exogenous factors. After 15‐20 days of culture under these conditions, cells bearing surface markers found on cells of the lymphoid lineage (Thy1+, Pgp‐1+, c‐kit+ and B‐220+) were detected. After 13‐15 days, transcripts for the recombinase activating genes (RAG) 1 and 2, interleukin (IL) 7, IL‐7 receptor and c‐kit were expressed. We also investigated rearrangements of the immunoglobulin (Ig) heavy and light chain and the T cell receptor (TCR) loci. After 15 days of differentiation, we detected DJH gene rearrangement with N‐region diversity. Productive VHDJH rearrangements are found after 20 days, paralleled by V Kappa J Kappa recombinations indicating a developmental stage comparable, at least, with that of pre B cells. Rearrangements of TCR gamma as well as delta chain segments were also observed, but no TCR beta chain rearrangement. These results demonstrate that ES cells reproducibly generate lymphoid cells in vitro.
Crystal structure of the Escherichia coli YjiA protein suggests a GTP‐dependent regulatory function

Pavel P. Khil, Galina Obmolova, Alexey Teplyakov, Andrew J. Howard, Gary L. Gilliland, and R. Daniel Camerini-Otero Genetics and Biochemistry Branch, NIDDK, National Institutes of Health, Bethesda, Maryland Center for Advanced Research in Biotechnology, University of Maryland Biotechnology Institute and the National Institute of Standards and Technology, Rockville, Maryland Center for Synchrotron Radiation Research and Instrumentation, Biological, Chemical and Physical Sciences Department, Illinois Institute of Technology, Chicago, Illinois
Spatial-Temporal Motion Field Analysis for Pixelwise Crack Detection on Concrete Surfaces

Crack development in concrete structures starts at the micro-crack stage and proceeds to the macro-crack stage due to repeated cyclic loading, like ongoing vehicles on bridges. Automatic detection of early stage cracks is required for both safety and economic reasons. We present an automatic crack detection method that scans a captured concrete area and provides a pixel-wise localization of both visible macro-cracks and early stage micro-cracks from video sequences. The key component in the proposed method is a spatial-temporal non-linear filtering on framewise dense 2D motion field combined with Conditional Random Fields based crack localization refinement. We evaluate our method against labeled ground truth data provided by an expert crack inspector. Experimental results show that our method can produce high accuracy automatic crack localization having F1 score improvement of 0.14-0.22 compared to conventional image based detectors. The proposed method is also shown to detect cracks at an earlier stage which enables early preventive measures for repair operations.