Miracle-dz/UniFAR-FTUs huggingface dataset:
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Abstract: Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1). To date, 324 pathogenic mutations have been detected within COL7A1 in different variants of DEB; many mutations are clustered in exon 73 (10.74%) which is close to the 39 amino acid interruption region. Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions within the triple helix of COL7A1 although other missense mutations, deletions or splice‐site mutations may underlie some cases. In recessive dystrophic epidermolysis bullosa, the mutations include nonsense, splice site, deletions or insertions, ‘silent’ glycine substitutions within the triple helix and non‐glycine missense mutations within the triple helix or non‐collagenous NC‐2 domain. The nature of mutations in COL7A1 and their positions correlate reasonably logically with the severity of the resulting phenotypes.
Sex-specific differences in cognitive functioning among schizophrenic patients.

BACKGROUND Cognitive deficits in schizophrenia are regarded by many psychiatrist as an important symptom, which requires appropriate treatment and rehabilitation. There are different conditions, which may have an influence on cognitive impairment in schizophrenic patients. One the factors differentiating subgroups of schizophrenic patients when neuropsychological functioning is analyzed is sex. SUBJECTS AND METHODS This Review was focused on cognitive functioning of schizophrenic patients of different sexes. In order to achieve this result PubMed was searched using following terms: cognitive functions, schizophrenia, gender differences, sex hormones, memory, attention, neuropsychological, psychopatological symptoms. RESULTS Most of the analyzed papers reflecting the cognitive differences between men and women suffering from schizophrenia postulate a worse performance in neuropsychological test by male patients. However according to some authors there are no gender differences in cognitive functioning in schizophrenic patients or those differences are not clinically significant. CONCLUSIONS The problem of sex-specific differences in cognitive functioning in patients in schizophrenia needs further investigation.
Insole-Type Simultaneous Measurement System of Plantar Pressure and Shear Force During Gait for Diabetic Patients

Plantar foot ulceration is one diabetic complication shown to be associated with both pressure and shear force. There are plantar pressure measurement systems, but it is still difficult to measure plantar shear force while walking. The aim of this study is to establish a simultaneous in-shoe measurement system of plantar pressure and shear force during a gait. The design of the measurement system is based on F-scan pressure-distribution-sensor sheets and shear-sensor sheets. An insole with a shear-sensor sheet was arranged to be applicable for measurement of diabetic having neuropathy patients without damaging their skin. It was found that the system gets proper different shear force data in response to gait patterns, such as shuffle walking and flat-floored walking. We confirmed, moreover, the repeatability of the system for 5 healthy individuals. Experimental results show that weight-adjusted plantar shear stress during the pushoff phase of a gait increases in diabetic patients with calluses more than in patients without calluses. After a clinical study of diabetic patients, the system can be applied not only for the prevention of diabetic foot but also for the broad evaluation of gait posture.
IMPACTOS DO PROCESSO DE CONVERGÊNCIA ÀS NORMAS INTERNACIONAIS DE CONTABILIDADE: UMA ANÁLISE DA POLÍTICA DE DIVIDENDOS

The dividend policy can be seen as the way in which the company allocates its profits between dividends paid to shareholders and amounts held in the company over time, representing an important decision in the field of corporate finance, relating to the company investment and funding policy. This study aimed to test the influence of corporate (and accounting) legislation as a driver of the value formation on the dividends distributed by Brazilian companies traded at BM&FBovespa. Thus, information on 147 public companies listed on the BM&FBovespa was used, observed over 10 years (2003-2013), which were analyzed descriptively and through regressions with panel data. The results support the hypothesis of research indicating a stability in the payment of dividends, but also suggest that changes regarding the convergence of Brazilian accounting standards to international process - in special the prohibition of retained profits by listed companies, introduced by law 11.638/07 - may have an impact on the dividend policy of Brazilian companies through the statistically significant increase in dividend yield in the years following the adoption of the Law.
Conformation affects the potential allergenicity of ovalbumin after heating and glycation

Ovalbumin (OVA), one of the major allergens in hen egg white, and has widespread use in experimental models of allergy. The aim of this research was to assess the effect of glycation and heat treatment on the potential allergenicity of OVA prepared from hen egg white. Secondary and tertiary structures of OVA were also characterised to show the relationship between potential allergenicity and the conformation of OVA after heating and glycation. Glycation significantly reduced the potential allergenicity of OVA tested with egg allergy patients’ sera, which was caused by conformation changes. An increased IgG reactivity was measured using rabbit anti-OVA and was supposed to be caused by protein unfolding which exposed hidden epitopes. Heating reduced the potential allergenicity of OVA at the expense of increased IgG reactivity. It is suggested that conformational changes of OVA induced by glycation and controlled heating significantly reduced its potential allergenicity.
Equilibrium in LQ differential games with multiple scenarios

This paper tackles the problem of finding a Nash-equilibrium for a differential game with multiple scenarios or multiple models of the game. Player's dynamics is governed by an ordinary differential equation with unknown parameters (Multi-Model representation) from a given finite set. The problem consists in the designing of min-max strategies for each player which guarantee an equilibrium for the worst case scenario. Based on the Robust Maximum Principle necessary conditions for a game to be in Robust Nash Equilibrium are derived. The LQ differential games are considered in detail. It is shown that the initial min-max differential game may be converted in to a standard static game given in a multidimensional simplex. A numerical procedure for resolving the LQ differential game is designed.
Liquidity Contagion : A Look at Emerging Markets

Emerging economies have passed an important stress test during the period 2008-09 andare now the key drivers for global growth of the world economy. Financial markets are todayso inter connected that they are fragile to contagion. The issue of financial contagion washistorically concerning Emerging Markets (EM). These latter attract foreign investors andmassive investments funds in - and out - flows on very short horizons can be a source of contagion effects between markets. The analysis of the sovereign debt markets and particularlyrelated CDS markets is of interest since it is at the very center of a new phenomenon: banksare not any more the main source of systemic risk but sovereign economies are. As foreigninvestors represent the most of the volume traded, capital ﬂows in these markets should also impact FX market. Their analysis is thus also central to this study. Indeed, the mainrisk for an asset manager is to get stuck with unwanted sovereign debt due to a dry up ofmarket liquidity. The main contribution of this paper is the analysis of contagion looking atcommon markets liquidity problems to detect funding liquidity problems. We use the CreditDefault Swap bond spread basis and the deviations from the Covered Interest Parity as liquidity measures respectively for sovereign debt and FX markets. Moreover, we distinguishinterdependence and pure contagion using a state-space model with a time - varying volatilityspecification and we apply it to both returns and liquidity indicators.
A Novel Flucytosine-Resistant Yeast Species, Candida pseudoaaseri, Causes Disease in a Cancer Patient

ABSTRACT Some members of the genus Candida are among the most common human fungal pathogens and cause serious diseases especially in immunocompromised people. A yeast was isolated from a blood culture from an immunocompromised cancer patient who suffered from acute pneumonia. The growth characteristics of the yeast on CHROMagar Candida were similar to those of Candida tropicalis, whereas the API ID 32C system identified the yeast as Candida silvicola. On the basis of the nucleotide divergence in the D1/D2 domain of the 26S nuclear rRNA (nrRNA) gene, as well as the internal transcribed spacer (ITS) domain of the nrRNA gene region, a new species, Candida pseudoaaseri sp. nov. with type strain VK065094 (CBS 11170T), which was found to be closely related to Candida aaseri, is proposed. While C. aaseri strains were susceptible to all tested antifungals, the new species is resistant to flucytosine and may also be distinguished from C. aaseri by its ability to assimilate l-rhamnose, whereas its colony morphology on CHROMagar Candida may be helpful for differentiation.
dl-Tyrosinium chloride dihydrate

In the title compound, C9H12NO3 +·Cl−·2H2O, the cation has a protonated amino group resulting from proton transfer from chloridric acid. The structure displays double layers parallel to the [010] direction held together by N—H⋯O, N—H⋯Cl, O—H⋯O and O—H⋯Cl hydrogen bonds. These layers are stacked along the c axis at b = 1/2; within each layer, the tyrosinium cations are arranged in an alternating head-to-tail sequence, forming inversion dimers [R 2 2(10) motif]. The water molecules allow for the construction of a three-dimensional hydrogen-bonded network formed by centrosymmetric R 6 6(28) and R 8 8(34) motifs.
Generating Big Data Sets from Knowledge-based Decision Support Systems to Pursue Value-based Healthcare

Talking about Big Data in healthcare we usually refer to how to use data collected from current electronic medical records, either structured or unstructured, to answer clinically relevant questions. This operation is typically carried out by means of analytics tools (e.g. machine learning) or by extracting relevant data from patient summaries through natural language processing techniques. From other perspective of research in medical informatics, powerful initiatives have emerged to help physicians taking decisions, in both diagnostics and therapeutics, built from the existing medical evidence (i.e. knowledge-based decision support systems). Much of the problems these tools have shown, when used in real clinical settings, are related to their implementation and deployment, more than failing in its support, but, technology is slowly overcoming interoperability and integration issues. Beyond the point-of-care decision support these tools can provide, the data generated when using them, even in controlled trials, could be used to further analyze facts that are traditionally ignored in the current clinical practice. In this paper, we reflect on the technologies available to make the leap and how they could help driving healthcare organizations shifting to a value-based healthcare philosophy.
Supply Chain Management in the Lamb Industry: An Analysis of Opportunities and Limitations

Record prices during mid-2004, tipping 530 c/kg (MLA 2004b) have lead to increased interest in the production of lamb. Overall sheep numbers have fallen by 30% in the last decade, while prime lamb production is increasing. With the consumer-dominating product selection there has been a changing role of the producer and a shift in power to retailers. In Australia the major supermarket chains â€“ i.e. Coles, Woolworths and their subsidiaries - had 40% of the retail grocery market in 1970 (AFFA and ABARE 2000). By 2000-01 this figure had moved to 63% (ABARE 2002). Internationally Wal-Mart and Carrefour operate in more than 30 countries, with sales of 273,335 million Euro (A$488,098 million) in 2000/01. This compares with Woolworths, Coles and BiLo with sales of just 16,968 million Euro (A$ 30,300 million) (AFFA 2002). This domination by supermarkets in Australia and internationally has encouraged the development of co-ordination of the supply chain. Co-ordination within a supply chain implies that common objectives in product and material are necessary to achieve customer satisfaction. To achieve this requires crossing both organisational and functional boundaries. For the prime lamb industry the management of this co-ordination brings with it both opportunities and limitations. An investigation of three (3) lamb alliances found that education, business skills and quality assurance were all opportunites gained, while loss of producer identity/ power, contracts and maintenance of relationships where perceived limitations. However overall, the producers in the alliances studied couldnâ€™t comprehend why more producers did not take up the challenge of understanding their product, buyers and consumers better and participate in supply chain management (Johnson 2002).
Elevated bronchoalveolar lavage fluid histamine levels in allergic asthmatics are associated with increased airway obstruction.

Bronchoalveolar lavage (BAL) fluid was evaluated for histamine and tryptase levels in 61 samples (46 samples from 24 atopic asthmatics, seven samples from seven patients with allergic rhinitis, and eight samples from eight normal volunteers). Asthmatics and patients with allergic rhinitis had significantly higher BAL histamine than did normal subjects (169 +/- 22, 141 +/- 23, 42 +/- 6 pg/ml, respectively; p less than 0.05, both comparisons). BAL fluid tryptase levels were also higher in asthmatics and patients with allergic rhinitis than in normal subjects (0.36 +/- 0.03, 0.38 +/- 0.05, 0.23 +/- 0.04 ng/ml, respectively; p less than 0.05, both comparisons); however, levels of tryptase and histamine in BAL were not correlated (r = -0.03 in the group as a whole, r = -0.12 in the asthmatic group). BAL concentration of histamine correlated inversely with FEV1 percent predicted in the asthmatic group (r = -0.44, p less than 0.005). Asthmatics with high BAL fluid histamine (greater than or equal to 100 pg/ml, n = 23) had lower FEV1 percent predicted (80 +/- 3% versus 96 +/- 3%, p = 0.0005), lower FEV1/FVC ratio (72 +/- 1% versus 77 +/- 2%, p less than 0.05), higher percentage of BAL eosinophils (2.2 +/- 0.4% versus 0.6 +/- 0.1%, p less than 0.002), and greater airway responsiveness (lower PD20 [13.1 +/- 3.4 versus 41.5 +/- 13.7 cumulative breath units, p less than 0.05]) compared with asthmatics with low BAL fluid histamine (less than 100 pg/ml, n = 23). (ABSTRACT TRUNCATED AT 250 WORDS)
Kidney CLC-K chloride channels inhibitors: structure-based studies and efficacy in hypertension and associated CLC-K polymorphisms

Objective: Alterations in the handling of renal salt reabsorption may contribute to interindividual differences in blood pressure regulation and susceptibility to hypertension. CLC-K chloride channels and their accessory subunit barttin play a pivotal role in kidney by controlling chloride and water absorption. Compounds selective for CLC-Ks, such as the benzofuran derivative MT-189, may have a significant therapeutic potential. Here, we assessed the feasibility of using CLC-K blockers in hypertension and aimed at enhancing drug inhibitory affinity. Methods and results: We demonstrated that acute in-vivo administration of MT-189 to spontaneously hypertensive rats (SHR) caused a reduction of blood pressure and defined the CLC-K/barttin gene expression pattern in kidney of SHR in comparison with normotensive Wistar–Kyoto rats. Based on MT-189, we designed and tested a new series of benzofuran derivatives on CLC-K chloride channels heterologously expressed in HEK293 cells. These studies enabled us to elucidate the causative molecular relationship for obtaining the most potent and selective inhibitor (SRA-36) described so far, with an IC50 of 6.6 ± 1 &mgr;mol/l. The biophysical and pharmacological characterization of A447T CLC-Ka and Y315F CLC-Ka, both polymorphisms associated with hypertension, showed that SRA-36 is an efficacious inhibitor of the chloride currents sustained by these polymorphisms. Molecular docking studies allowed hypothesizing an inhibition mechanism for the considered ligands, laying the foundations for the rational design of new and more effective CLC-K inhibitors. Conclusion: The SRA-36 molecule represents a new potential therapeutic option for hypertension.
A non‐native invasive grass increases soil carbon flux in a Hawaiian tropical dry forest

Non‐native plants are invading terrestrial ecosystems across the globe, yet little is known about how invasions impact carbon (C) cycling or how these impacts will be influenced by climate change. We quantified the effect of a non‐native C4 grass invasion on soil C pools and fluxes in a Hawaiian tropical dry forest over 2 years in which annual precipitation was average (Year 1) and ∼60% higher than average (Year 2). Work was conducted in a series of forested plots where the grass understory was completely removed (removal plots) or left intact (grass plots) for 3 years before experiment initiation. We hypothesized that grass invasion would: (i) not change total soil C pools, (ii) increase the flux of C into and out of soils, and (iii) increase the sensitivity of soil C flux to variability in precipitation. In grass plots, grasses accounted for 25–34% of litter layer C and ∼70% of fine root C. However, no differences were observed between treatments in the size of any soil C pools. Moreover, grass‐derived C constituted a negligible fraction of the large mineral soil C pool (< 3%) despite being present in the system for ≥50 years. Tree litterfall was ∼45% lower in grass plots, but grass‐derived litterfall more than compensated for this reduction in both years. Annual cumulative soil‐surface CO2 efflux (Rsoil) was ∼40% higher in grass plots in both years, and increased in both treatments by ∼36% in the wetter Year 2. Despite minimal grass‐derived mineral soil C, > 75% of Rsoil in grass plots was of C4 (i.e. grass) origin. These results demonstrate that grass invasion in forest ecosystems can increase the flux of C into and out of soils without changing total C pools, at least over the short term and as long as the native tree canopy remains intact, and that invasion‐mediated changes in belowground C cycling are sensitive to precipitation.
Ethical Challenges in a Randomized Controlled Trial of Peer Education Among Veterans Service Organizations

Efforts to increase community members' involvement in research may create novel ethical challenges. We describe an ongoing randomized trial of a peer-delivered intervention to encourage hypertension self-management. Community members serving as peer leaders participate in subject recruitment, the informed consent process, and intervention. We describe our experience with several ethical issues that may arise when conducting research in similar settings: (1) coercion of community members, by the community, to participate either as leaders or as study subjects; (2) threats to the privacy of health information; and (3) conflict between peer leaders' roles as community members and study team members.
Hybrid DDP in Clutter (CHDDP): Trajectory Optimization for Hybrid Dynamical System in Cluttered Environments

We present an algorithm for obtaining an optimal control policy for hybrid dynamical systems in cluttered environments. To the best of our knowledge, this is the first attempt to have a locally optimal solution for this specific problem setting. Our approach extends an optimal control algorithm for hybrid dynamical systems in the obstacle-free case to environments with obstacles. Our method does not require any preset mode sequence or heuristics to prune the exponential search of mode sequences. By first solving the relaxed problem of getting an obstacle-free, dynamically feasible trajectory and then solving for both obstacle-avoidance and optimality, we can generate smooth, locally optimal control policies. We demonstrate the performance of our algorithm on a box-pushing example in a number of environments against the baseline of randomly sampling modes and actions with a Kinodynamic RRT.
Tourism: Principles and Practices

PART ONE: FUNDAMENTALS OF TOURISM 1. Introduction to Tourism Concept 2. Development of Tourism Through the Ages 3. Tourist Motivation and Travel Behaviour 4. Cultural and Sociological Tourism for Refinement of Human Life PART TWO: BASIC TOURISM SERVICES 5. Passenger Transport Business 6. Hospitality Services 7. Travel Agency Business Perspective 8. Tour Operation Management 9. Ancillary Tourism Sector PART THREE: TOURISM DEMAND AND SUPPLY 10. Measurement of Tourism Demand 11. Basic Tourism Supply Components PART FOUR: TOURISM IMPACTS AND POLICY FORMULATION 12. Economic and Environmental Impact of Tourism 13. Tourism Policy and Planning PART FIVE: MODERN TOURISM BUSINESS 14. International, National, Regional Tourism and Related Organizations 15. Fundamentals of Tourism Marketing and Research 16. E-tourism 17. Contemporary Trends and Practices
Co-Infections in Children Hospitalised for Bronchiolitis: Role of Roomsharing

Background Bronchiolitis is a major cause for hospitalisation in young children during the winter season, with respiratory syncytial virus (RSV) as the main causative virus. Apart from standard hygiene measures, cohorting of RSV-infected patients separately from RSV-negative patients is frequently applied to prevent cross-infection, although evidence to support this practice is lacking. The objective is to evaluate the risk of room sharing between RSV-positive and RSV-negative patients. Methods We performed a prospective observational cohort study in children < 2 years hospitalised with acute bronchiolitis. During the first day of admission, patients shared one room, pending results of virological diagnosis (PCR). When diagnostic results were available, RSV-positive and RSV-negative patients were separated. Standard hygienic measures (gowns, gloves, masks, hand washing) were used in all patients. Results We included 48 patients (83% RSV-positive). Co-infection was found in nine patients at admission, and two during hospitalisation (23%). The two patients with acquired co-infection had been nursed in a single room during the entire admission. None of 37 patients sharing a room with other bronchiolitis patients (20 with patients with a different virus) were co-infected during admission. Disease severity in co-infection was not worse than in mono-infection. Conclusion One in five patients with bronchiolitis was co-infected, but co-infection acquired during admission was rare and was not associated with more severe disease. Room sharing between RSV-positive and RSV-negative patients (on the first day of admission) did not influence the risk of co-infection, suggesting that cohorting of RSV-infected patients separate from non-RSV-infected patients may not be indicated.