Developmental disorders of vision

This review of developmental disorders of vision focuses on a few of the many disorders that disrupt visual development. Given the enormity of the human visual system in the primate brain and complexity of visual development, however, there are likely hundreds or thousands of potential types of disorders affecting high-level vision. The rapid progress seen in developmental dyslexia and Williams syndrome demonstrates the possibilities and difficulties inherent in researching such disorders, and the authors hope that similar progress will be made for congenital prosopagnosia and other disorders in the near future

Perceptual grouping ability in Williams syndrome: Evidence for deviant patterns of performance

Williams syndrome (WS) is a rare genetic disorder. At a cognitive level, this population display poor visuo-spatial cognition when compared to verbal ability. Within the visuo-spatial domain, it is now accepted that individuals with WS are able to perceive both local and global aspects of an image, albeit at a low level. The present study examines the manner in which local elements are grouped into a global whole in WS. Fifteen individuals with WS and 15 typically developing controls, matched for non-verbal ability, were presented with a matrix of local elements and asked whether these elements were perceptually grouped horizontally or vertically. The WS group were at the same level as the control group when grouping by luminance, closure, and alignment. However, their ability to group by shape, orientation and proximity was significantly poorer than controls. This unusual profile of grouping abilities in WS suggests that these individuals do not form a global percept in a typical manner

Dyslexia Impairs Speech Recognition but Can Spare Phonological Competence

Dyslexia is associated with numerous deficits to speech processing. Accordingly, a large literature asserts that dyslexics manifest a phonological deficit. Few studies, however, have assessed the phonological grammar of dyslexics, and none has distinguished a phonological deficit from a phonetic impairment. Here, we show that these two sources can be dissociated. Three experiments demonstrate that a group of adult dyslexics studied here is impaired in phonetic discrimination (e.g., ba vs. pa), and their deficit compromises even the basic ability to identify acoustic stimuli as human speech. Remarkably, the ability of these individuals to generalize grammatical phonological rules is intact. Like typical readers, these Hebrew-speaking dyslexics identified ill-formed AAB stems (e.g., titug) as less wordlike than well-formed ABB controls (e.g., gitut), and both groups automatically extended this rule to nonspeech stimuli, irrespective of reading ability. The contrast between the phonetic and phonological capacities of these individuals demonstrates that the algebraic engine that generates phonological patterns is distinct from the phonetic interface that implements them. While dyslexia compromises the phonetic system, certain core aspects of the phonological grammar can be spared

Perceptual Grouping and Distance Estimates in Typical and Atypical Development: Comparing Performance across Perception, Drawing and Construction Tasks

Perceptual grouping is a pre-attentive process which serves to group local elements into global wholes, based on shared properties. One effect of perceptual grouping is to distort the ability to estimate the distance between two elements. In this study, biases in distance estimates, caused by four types of perceptual grouping, were measured across three tasks, a perception, a drawing and a construction task in both typical development (TD; Experiment 1) and in individuals with Williams syndrome (WS; Experiment 2). In Experiment 1, perceptual grouping distorted distance estimates across all three tasks. Interestingly, the effect of grouping by luminance was in the opposite direction to the effects of the remaining grouping types. We relate this to differences in the ability to inhibit perceptual grouping effects on distance estimates. Additive distorting influences were also observed in the drawing and the construction task, which are explained in terms of the points of reference employed in each task. Experiment 2 demonstrated that the above distortion effects are also observed in WS. Given the known deficit in the ability to use perceptual grouping in WS, this suggests a dissociation between the pre-attentive influence of and the attentive deployment of perceptual grouping in WS. The typical distortion in relation to drawing and construction points towards the presence of some typical location coding strategies in WS. The performance of the WS group differed from the TD participants on two counts. First, the pattern of overall distance estimates (averaged across interior and exterior distances) across the four perceptual grouping types, differed between groups. Second, the distorting influence of perceptual grouping was strongest for grouping by shape similarity in WS, which contrasts to a strength in grouping by proximity observed in the TD participants

Optimization of the runtime of tweet sentiment analysis with Hadoop’s PySpark

RESUMEN: Cuando se trata del análisis y procesamiento de volúmenes grandes de datos del orden de los GB o superiores, las herramientas utilizadas usualmente como Python nativo no suelen ser suficientes si se requiere obtener resultados en un tiempo reducido. Por ello, el presente proyecto pretende demostrar la eficiencia del uso de herramientas que hacen uso de los sistemas distribuidos, en este caso PySpark. Se realiza un análisis de sentimientos junto a su respectivo preprocesado de datos de un conjunto de tweets cuyo tamaño supera los 20 GB utilizando la librería TextBlob utilizando tanto Python nativo como PySpark, midiendo en ambos casos el tiempo de ejecución de operaciones como descompresión, lectura y escritura de datos a un archivo csv, modificaciones al conjunto de datos, limpieza de texto y la clasificación de sentimientos reflejados en los tweets en negativo, positivo o neutro. Se realiza una comparación de los tiempos de ejecución obtenidos logrando demostrar que al adaptar el código utilizado en Python a PySpark se reduce la operación más costosa, la clasificación de sentimientos con TextBlob, de horas a menos de un segundo. Como conclusión en los resultados se obtiene una reducción final del 96% del tiempo empleado con Python, pasando de invertir casi 16 horas a tan solo 38 minutos con la ayuda de PySpark.ABSTRACT: When it comes to the analysis and processing of large volumes of data in the order of GB or more, the tools normally used such as native Python are usually not enough if you need to obtain results in a short time. Therefore, this project aims to demonstrate the efficiency using tools that make use of distributed systems, in this case PySpark. A sentiment analysis is carried out along with its respective data preprocessing of a set of tweets whose size exceeds 20 GB using the TextBlob library with both native Python and PySpark, measuring in both cases the execution time of operations such as decompression, reading and writing data to a csv file, modifications to the data set, text cleaning and the classification of sentiments reflected in the tweets in negative, positive or neutral. A comparison of the obtained execution times is made, demonstrating that adapting the code used in Python to PySpark reduces the most expensive operation, the classification of sentiments with TextBlob, from hours to less than a second. As a conclusion in the results, a final reduction of 96% of the time spent with Python is obtained, going from investing almost 16 hours to only 38 minutes with the help of PySpark.Máster en Ciencia de Dato

Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers

Patients with Kallmann's syndrome show hypothalamic hypogonadism, hyposmia, and congenital mirror movements. As a correlate, a defect of gonadotropic neuron migration into the brain was recently detected. Considering abnormal outgrowth of neurons also as a possible substrate underlying mirror movements, we studied 3 patients and 2 asymptomatic female gene carriers from a kindred with proven linkage to Xp22.3, using focal transcranial magnetic stimulation of motor cortex hand areas with a figure-eight coil. In all 3 affected brothers, bilateral responses could be evoked almost simultaneously in their thenar muscles (slight latency differences were statistically insignificant). In contrast, the mother and the maternal aunt showed only unilateral, normal thenar responses, even with maximum tolerable stimulator output and high signal amplification. Correspondingly, mirror movements were present in the patients, but not in the gene carriers. Bilaterality of cortically evoked hand muscle responses and mirror movements, therefore, behaved as X-chromosomal recessive traits. A likely cause might be a disorder of neuronal outgrowth in the motor system, particularly of inhibitory callosal fibers. For normal anatomical development of the motor system, one intact Xp22.3 gene seems necessary

СИНЕРГЕТИЧЕСКИЙ ЭФФЕКТ ТРАНСПОРТА

The article underlines problems of insufficient funding of innovative development of Russian railways, shows ways to attract funding via non transport (synergetic) effect for the customers of transportation services in the framework of privatepublic partnership. The author proposes formulae of definition of reduced expenditures and results for assessment of investment in infrastructural projects, methods of calculation of some elements of synergetic effect, which is achieved through accelerated rotation of material resources, reduced inventory norms, increased incomes of realty owners in the regions adjacent to transport networks, social effect of increased mobility of population if innovative transport capacity of the country considerably develops.Показаны проблемы недофинансирования инновационного развития российских железных дорог, способы покрытия финансовых ресурсов за счёт внетранспортного (синергетического) эффекта потребителями транспортных услуг в рамках государственно-частного партнерства. Даны формула определения приведённых затрат и результатов для оценки инвестиционных инфраструктурных проектов, методы расчёта отдельных элементов синергетического эффекта, достигаемого с помощью ускоренного оборота материальных ресурсов и сокращения нормативов их запасов, повышения доходов собственников недвижимости при её реализации в районе тяготения транспорта, получения социального эффекта от растущей мобильности населения при существенном развитии инновационного транспортного потенциала страны

Mechanochemical synthesis of carbon-stabilized Cu/C, Co/C and Ni/C nanocomposites with prolonged resistance to oxidation

This is the final version. Available on open access from Nature Research via the DOI in this recordData availability: The authors declare that all relevant data are included in the paper and in Supplementary Information files.Metal-carbon nanocomposites possess attractive physical-chemical properties compared to their macroscopic counterparts. They are important and unique nanosystems with applications including in the future development of nanomaterial enabled sensors, polymer fillers for electromagnetic radiation shields, and catalysts for various chemical reactions. However, synthesis of these nanocomposites typically employs toxic solvents and hazardous precursors, leading to environmental and health concerns. Together with the complexity of the synthetic processes involved, it is clear that a new synthesis route is required. Herein, Cu/C, Ni/C and Co/C nanocomposites were synthesized using a two-step method including mechanochemical treatment of polyethylene glycol and acetates of copper, nickel and cobalt, followed by pyrolysis of the mixtures in an argon flow at 700 °C. Morphological and structural analysis of the synthesized nanocomposites show their core-shell nature with average crystallite sizes of 50 (Cu/C), 18 (Co/C) and 20 nm (Ni/C) respectively. The carbon shell originates from disordered sp2 carbon (5.2–17.2 wt.%) with a low graphitization degree. The stability and prolonged resistance of composites to oxidation in air arise from the complete embedding of the metal core into the carbon shell together with the presence of surface oxide layer of metal nanoparticles. This approach demonstrates an environmentally friendly method of mechanochemistry for controllable synthesis of metal-carbon nanocomposites.Engineering and Physical Sciences Research Council (EPSRC)International Visegrad Fun

КРИТЕРИИ ЭКОНОМИЧЕСКОЙ ОЦЕНКИ ТРАНСПОРТА

The author returns to the issue of description of the transportation productivity, production or product, asks whether it should be a formula referring to tonne-kilometer rate of transport vehicles operation or income growth rate of the goods owners referring to the chosen mode of transportation. The author also study some problems of keen interest in the sphere of fares, tariffs, criteria of efficacy and competitiveness of the actors of freightage, as well as the current operation of wagons belonging to different owners. See the decisive importance of transport and transportation for national economy, all these problems deserve an ample debate.Статья возвращает к вопросу о том,  что является продукцией транспорта:  выполненные тонно-км или прирост  дохода грузовладельцев с учетом  выбранного способа перемещения  их товара. Не менее остро  оцениваются и реалии тарифной  политики, критерии эффективности  и конкурентоспособности для  участников перевозочного процесса,  а также ситуация с разобщенным  по принадлежности вагонным парком. При том определяющем значении,  которое имеет транспорт для  экономики страны, каждая  из затронутых тем претендует  на самое заинтересованное  обсуждение

Mapping Genetically Controlled Neural Circuits of Social Behavior and Visuo-Motor Integration by a Preliminary Examination of Atypical Deletions with Williams Syndrome

In this study of eight rare atypical deletion cases with Williams-Beuren syndrome (WS; also known as 7q11.23 deletion syndrome) consisting of three different patterns of deletions, compared to typical WS and typically developing (TD) individuals, we show preliminary evidence of dissociable genetic contributions to brain structure and human cognition. Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1) GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2) the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3) the regions including STX1A, and/or CYLN2 in overall white matter structure. This knowledge contributes to our understanding of the role of genetics on human brain structure, cognition and pathophysiology of altered cognition in WS. The current study builds on ongoing research designed to characterize the impact of multiple genes, gene-gene interactions and changes in gene expression on the human brain