Miracle-dz/UniFAR-FTUs huggingface dataset:
A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis

Background: Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal recessive metabolic disorder caused by mutations in the NAGLU gene which encode lysosomal enzyme N-acetyl-glucosaminidase, involved in degradation of complex polysaccharide, heparan sulfate. The disease is characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. Materials & Methods: In this study, targeted exome sequencing was used in consanguineous parent (mother) of a deceased child with clinical diagnosis of mucopolysaccharidosis. Sanger sequencing was performed to confirm the candidate pathogenic variants in extended family members and segregation analysis. In silico pathogenicity assessment of detected variant using multiple computational predictive tools were performed. Computational docking using the Molegro Virtual Docker (MVD) 6.0. 1 software applied to evaluate affinity binding of altered protein for its ligand, N-Acetyl-D-Glucosamine. Moreover, with I-TASSER software functional alterations between wild and mutant proteins evaluated. Results: We identiﬁed a novel heterozygote deletion variant (c.1294-1304 del CTCTTCCCCAA, p.432LeufsX25) in the NAGLU gene. The variant was classified as pathogenic based on the American College of Medical Genetics and Genomics guideline. Computational docking with the Molegro Virtual Docker (MVD) 6.0. 1 software confirmed different affinity binding of truncated protein for its ligand. Moreover, I-TASSER software revealed structural and functional alterations of mutant proteins. Conclusion: This study expands the spectrum of NAGLU pathogenic variants and confirms the utility of targeted NGS sequencing in genetic diagnosis and also the utility and power of additional family information.
Potential for low transport energy use in developing Asian cities through compact urban development

Global reliance and continued growth in oil demand is likely to persist in future as a result of high growth in vehicle ownership from emerging affluence in developing economies. The outcome will lead to growing oil price risks along with increasing greenhouse gas emissions. We show the importance of compact city development to the projected per capita energy use in developing cities. Policies that address the decline in city density during the transition from emerging to affluent cities are shown to provide substantial long-term transport energy savings. We formulate an improved estimation of vehicle ownership and unit vehicle travel using a refined saturation derivation. We combine our vehicle ownership and unit travel model with a vehicle fleet model to predict consumer preference and the rate of diffusion of alternative vehicle technologies. In this analysis, preventing the decline in urban compactness reduces per capita transport energy use in developing cities by up to 50% in 2050. Quantitative models and statistical data are used to assess the impact of city compactness on projected urban transport energy use for developing Asian APEC cities to 2050.
Current and evolving models of peer-review ANA FRESCO-SANTALLA and TONY HERNÁNDEZ-PÉREZ

New models of scientific publishing and new ways of practicing peer review have injected a recent dynamism into the scholarly communication system. In this article, we delineate the context of the traditional peer review model, reflect upon some of the first experiences with open peer review and forecast some of the challenges that new models for peer review will have to meet. Our findings suggest that the peer review function has the potential to be divorced from the journal system, so that the responsibility to judge the significance of a paper may no longer fall exclusively to formal reviewers, but may be assessed by the whole readership community.
Decoding the neural processing of selective attention to speech

Understanding speech in noisy backgrounds requires selective attention to a particular speaker. Humans excel at this challenging task, while current speech recognition technology still struggles when background noise is loud. The neural mechanisms by which we attend selectively to a particular speech signal remain, however, poorly understood, not least due to the complexity of natural speech. Here we describe recent progress obtained through applying machine-learning to neuroimaging data of humans listening to speech in background noise. In particular, we develop statistical models to relate two characteristic features of speech, pitch and amplitude fluctuations, to neural measurements. We find neural correlates of speech processing both at the subcortical level, related to the pitch, as well as at the cortical level, related to amplitude fluctuations. Our findings may be applied in smart hearing aids that automatically adjust speech processing to assist a user, as well as inform future speech-recognition algorithms.
Analysis of Usability and Accessibility Problems of Financial Sectors ’ Website using Visitor-based Evaluation Technique

Websites have become an important aspect of many organizations for conducting business, enabling efficient information sharing, and effective communication. Measuring the accessibility of these websites has become an important challenge for regulators, policy makers, and even to the businesses themselves. Therefore, many techniques have been developed and applied for checking website accessibility. However, most of these techniques were developed, tested, and used in developed countries with no substantial evidence of their applicability in developing countries. Moreover, the financial sector’s shift to online services calls for an adequate evaluation of accessibility of its websites. This work validates a visitor-based web evaluation (VBE) technique by applying it to the evaluation of twenty top banks in Turkey. The results of the evaluation shows that the major strengths of the banks’ websites include their comprehensibility, navigation, loading and viewing, and security with an average score of approximately 80% in each of the categories, while their major weaknesses include identity, personalization, speed, ease of use, and interactivity. The banks focus more on technical principles but not on the accessibility of their sites.
Big Five Traits : A Critical Review

This study seeks to provide a broad and thorough review of the literature on the big five traits (BFT) through a long history of conceptual and applied studies in many areas depending on large samples of individuals, groups and countries. The BFT is the most widely accepted model to describe the structure of personality traits, so this study sought to identify them in order to achieve a better understanding as well as for consideration by researchers in their future studies. This review focused on the eight key observations related to the BFT. These observations are: meaning of the traits; the history of the BFT model; unity or hierarchy of traits; number of the traits; three perspectives on BFT; BFT questionnaires; BFT and performance; and the need for a sixth trait. The results of the study clearly confirmed that there are problems with universal models that tend to generalize a limited number of dimensions in order to interpret personality across borders and cultures.
GEOSPATIAL INFORMATION INTEGRATION , MODELING AND DIGITAL MAPPING OF URBAN SPRAWL : A STUDY OF NOIDA CITY , INDIA

The urban sprawl is mainly occurring over the expenses of productive agricultural land during the recent past. There is an increase in land value due to urban sprawl which has made agriculture less profitable, and the cultivable land is kept fallow prior to merging it with the urban areas. The population is continuously growing and swelling due to inmigration from the countryside’s. For instance, the New Okhla Industrial Development Area (NOIDA) is one of the well planned, spacious and greenest cities of the country, India. Due to the expansion of economic activities by the multinational companies and transport network, there has been occurred the fast pace of urban sprawl. The present study has inquired to answers a number of research questions in detail which are as what are the spatial patterns of land use land cover during 2001 to 2006? How is the growth of spatial urban sprawl impacted to the rural-urban fringe of NOIDA city? Which are the suitable strategies for sustainable urban development for one of the fast growing NOIDA city? However, the present study has considered the urban sprawl as a challenging task therefore, seeks to bring out the noteworthy impacting factors such as the infrastructure and amenities development on the process of urban sprawl in the adjoining areas of NOIDA City. Urban sprawl has been quantified by considering the built-up area as the key feature of sprawl, which can be obtained either from physical field survey or through remote sensing satellite imagery. In view of this, the present research has made an attempt to help local, regional and state level land use planners and policy makers to better understand and address the issues attributed to urban sprawl. The GIS/RS technologies and Entropy Model have been applied to scrutinize the spatio-temporal land use land cover changes and the process of urban sprawl in the adjoining areas of NOIDA city. There has been a continuous process of urban sprawl in the rural-urban fringe of NOIDA City due to the liberalization of economy, development plans and policies of the state govt. Uttar Pradesh and Central Govt. of India. It has resulted into the establishments of number of national and multinational companies, since the inception of NOIDA as an industrial city. So, it is noteworthy to mention that there has been occurred a continuous sprawl of urban areas adjacent to the NOIDA City during 1976 to 2006. The Greater NOIDA was created in the recent past as an extension of NOIDA, where the pace of urban sprawl was much faster due to the govt. development plans and policies. Therefore, the urban expansions are to be planned over the non-fertile agricultural land for sustainable urban and environment development which are the most important concerns for the new urban sprawling areas adjoining to the NOIDA City at the threshold of the 21 Century.
Psychological Contract Violation Management and Organizationa Citizenship Behaviours in Selected Commercial Banks in Kampala District By James Kagaari

The purpose of the study was to find the relationship between psychological contract violation, psychological contract violation management and Organizational citizenship behaviours. The research was carried out in selected commercial banks in Kampala District. The researcher used a simple random sampling (lottery) approach to select a sample of 144 respondents. Self-administered questionnaires were administered; data collected and analyzed using SPSS software version 19 adopted for windows. The results indicated that there is a significant relationship between the study variables {(Psychological contract violation and OCB, r =-.37, ρ ≤ .01); (Psychological contract violation management and OCB; r = 0.48, p ≤ .01)}. The researcher concluded that whenever employees perceive a psychological contract violation, the organisation is likely to suffer serious consequences. Employees begin to engage in undesirable behaviours. The researcher recommended that employers should ensure that the promised obligations to the employees are fulfilled and not violated. This will enable employees gain a sense of belonging in the organisation and go an extra mile to make sure that the set goals and objectives are
Antibiotic Sensitivity Patterns of Aerobic Bacterial Agents in Post-Surgical Orofacial Infections

Background : There is no data on the bacteriology of postsurgical orofacial infections at our institutions. Uncontrolled use of antibiotics may lead to development of resistance with the resultant increase in morbidity and cost of treatment. We aimed to determine the aerobic bacterial agents and antibiotic sensitivity of post-surgical infections in the orofacial region. Methodology : Patients were evaluated for post-surgical wound infection from the 5th to 30th post-operative day. In cases where a surgical implant was placed the period of review was extended for up twelve months. The specimens were collected using sterile swabs and transported to the microbiology laboratory within two hours of collection. The specimens were then analyzed for bacteriology according to the standard bacteriological techniques. A wide range of antibiotics including those commonly used to treat orofacial infections were tested for sensitivity against the isolates obtained using the disk diffusion test (Kirby-Bauer procedure, using CLSI protocols). Results : Staphylococcus aureus accounted for 40% of the isolates followed by Klebsiella species (23%) and the Pseudomonas species (19%). Amoxycillin/clavulinic acid, the 2nd and 3rd generation cephalosporins were effective against most of the bacterial infections from the orofacial region. Conclusion : Staphylococcus aureus, Klebsiella, and Pseudomonas species are the commonest isolates from the oral facial region. Antibiotics which showed adequate efficacy against them were the augmented Penicillins and newer generations Cephalosporins. Key Words : Oro-facial infection, Post-surgical, Antibiotics
Pharmacologic Management of Parkinson Disease: Choice of Initial Therapy in Early Disease

The most efficacious symptomatic agent for Parkinson's disease is levodopa; however, the development of motor complications with long-term therapy is concerning. In the modern day treatment of Parkinson's disease, non-levodopa agents (eg, dopamine agonists, monoamine oxidase type B inhibitors) should be considered as appropriate initial treatments. In early Parkinson's disease, dopamine agonists provide effective symptomatic therapy, reduce the risk for motor complications, and delay the need to initiate levodopa. However, the dopamine agonists are associated with impulse control disorders and behaviors that are concerning. Monoamine oxidase type B inhibitors are also effective as monotherapy for early stage Parkinson's disease. Clinical data demonstrate that early initiation of rasagiline (in the absence of functional impairment) is associated with improved outcomes as opposed to delayed initiation. Selegiline can delay the need for levodopa, albeit its clinical effectiveness as monotherapy is equivocal. When selecting initial therapy for early Parkinson's disease, clinicians must consider both short-term and long-term benefits and risks.
Violence Prevention in Early Childhood: Effectiveness of a Violence Prevention Curriculum for Head Start Teachers

Youth in the U.S. are victims of, perpetrators of, and exposed to violence. A tool of violence prevention is early childhood education. Teachers of Head Start in rural, heavily Hispanic, South Texas are recruited to receive a newly developed violence prevention training program. This was done utilizing a quasi­-experimental design with a control group and two experimental groups. Of the 107 teachers involved in the program, 84 completed both the pre-test and post-test instruments. The effectiveness of the training in influencing knowledge and attitudes is tested here. Analysis of the data indicates that knowledge and attitudes are influenced both by the training and by having had prior exposure to violence. The results of this study suggest that violence prevention education enhances both knowledge and feelings of competency regarding ability to deal with violence. This study indicates that there is a need for further development and implementation of violence prevention curricula for both teachers and children involved in early childhood training programs such as Head Start.
Chapter 3 COMPRESSIVE STRENGTH TESTS AT HIGH TEMPERATURES 3 . 1

We have performed high-temperature compressive strength tests for plain concrete and concrete bound with hoops (confined concrete). The stress-strain relations for plain concrete and confined concrete obtained from the tests were used to derive the plastic flow rule. Furthermore, a discussion of the failure criterion has been provided based on the results of the compression tests for confined concrete. On the basis of the plastic flow rule and the failure criterion as derived from the experimental results, the stress-strain relation for confined concrete has been calculated using finite element analysis, and the validity of the derived constitutive laws was verified.
Impact of transcranial electric stimulation on molecular and elemental components in the brains of rats addicted to high-caloric nutrients – the study by infrared and synchrotron X-ray imaging spectroscopies

A high-caloric diet is now considered as one of the most significant risk factors for developing serious lifestyle cardiovascular and neurological diseases. It is surmised that overnutrition may overbalance the electric activity in the brain areas triggering appetite and craving, gradually leading to food addiction and finally obesity [1]. In order to understand the impact of the high-caloric diet on brain activity, the interplay between changes in molecular components and metal ions must be studied in the brain areas particularly affected by food addiction [2]. In our study, we aimed at showing, whether or not, impacting the brain electric activity by transcranial direct current brain stimulation (tDCS) has any behavioral and biochemical effects on lipid, protein secondary structure and levels of metal ions [3]. For doing so, thin brain tissue sections were taken from electricallyand sham-stimulated rats on a highcaloric diet. The samples were raster-scanned with current state-of-the-art modern molecular and elemental micro-imaging modalities: Fourier transform infrared and vacuum-based synchrotron X-ray fluorescence (ELETTRA synchrotron facility in Trieste, Italy) spectroscopies. The contribution will aim at outlining the details of our unique brain stimulation procedure, and comparing the most striking molecular and elemental changes invoked in the appetite-triggering brain areas of obese rats. It will be demonstrated that the clinical efficacy of anodal-type tDCS has a stronger impact on the brain by altering the surface masses of the metal ions such as Na, K, and Cl. Perturbation in major molecular components will be shown to correlate with metal ions. The study, although preliminary, demonstrates that by stimulating the brains of rats addicted to high-caloric diet, the feeding behavior can be significantly changed, resulting in decreased appetite and craving. Therefore, our brain stimulation method paves the way for the novel treatments for challenging the most common metabolic syndromes causing overnutrition and obesity.
Sociodemographic profile of patients with cervical cancer in a tertiary-care cancer hospital in Mysuru, Karnataka

Background: Cervical cancer is a major public health problem. Its burden is high in developing countries, where screening programs are not well established or are minimally effective. Study of the sociodemographic profile is the first step in planning screening and control measures. Objective: To determine the sociodemographic profile of patients with cervical cancer in a tertiary-care cancer hospital in Mysuru, Karnataka, India. Materials and Methods: This combined prospective and retrospective study was conducted during January 2012 to December 2012 among all the newly diagnosed cases of cervical cancer from January 2006 to December 2007 at a tertiary-care cancer hospital. Data were collected using a pretested structured questionnaire. Details of sociodemographic profile, symptoms, and staging were obtained. Data were entered in Microsoft Excel and results were expressed in percentages and proportions. Result: Among the 380 patients with cervical cancer, 175 (46.1%) were in the age group of 50–64 years. Majority of the patients were from rural areas (73.9%) and 26.1% were from urban areas. Majority of the patients were Hindus (93.2%), 249 (65.5%) were illiterate, 237 (62.4%) were married, and 130 (34.3%) belonged to Class III socioeconomic status. The most common symptom was white discharge per vagina (50.5%). Majority of the patients (140, 36.8%) were in stage IIIB followed by 116 (30.5%) in stage IIB. Conclusion: Cervical cancer is potentially preventable and curable. The focus should be on creating awareness regarding the risk factors, stress the need for early detection, screening, and effective utilization of health-care resources.
FlickerNet: Adaptive 3D Gesture Recognition from Sparse Point Clouds

Recent studies on gesture recognition use deep convolutional neural networks (CNNs) to extract spatio-temporal features from individual frames or short video clips. However, extracting features frame-by-frame will bring a lot of redundant and ambiguous gesture information. Inspired by the ﬂicker fusion phenomena, we propose a simple but efﬁcient network, called FlickerNet, to recognize gesture from a sequence of sparse point clouds sampled from depth videos. Different from the existing CNN-based methods, FlickerNet can adaptively recognize hand postures and hand motions from the ﬂicker of gestures: the point clouds of the stable hand postures and the sparse point-cloud motion for fast hand motions. Notably, FlickerNet signiﬁcantly outperforms the previous state-of-the-art approaches on two challenging datasets with much higher computational efﬁciency.
Removal of Hexavalent Chromium ( VI ) from Aqueous Solutions using Surface Modified

Chromium (VI) adsorption behavior and capacity by surface modified nanozeolite A has been investigated. Surface modification was performed and the morphology of modified and unmodified nanozeolite was studied using Scanning Electron Microscope (SEM) and Transmission Electron Microscope (TEM). Adsorption isotherms were studied under different conditions (pH, adsorbent dose, adsorbate concentration and interaction time). The Langmuir monolayer adsorption capacity (qm) was found to be 14.16 mg Cr(VI) per gram at pH = 3.0 at room temperature. Chromate adsorption on surface modified nanozeolite A was found to be inversely proportional to the pH. Effect of competitive ions was studied and it was found that there is no significant competition between chromate adsorption and presence of competitive ions. Results revealed that Langmuir model is in good agreement with experimental re-sults. Results of examinations on a polluted natural sample showed that surface modified nanozeolite A could reduce chromium (VI) concentration to acceptable criteria. Based on results, surface modified nanozeolite A is an effective sorbent for removing chromate from aquatic solution and the adsorption ability is enhanced by surface modification.
Indoor Levels and Emission Rate of Ultrafine Particles from Resurfacer in Ice Rink

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