Miracle-dz/UniFAR-FTUs huggingface dataset:
Novel Gene RPTOR with Pathogenic Mutation Cause: Facioscapulohumeral Muscular Dystrophy–Like Disease

Case Report The appearance of next-generation sequencing (NGS) has significantly changed the way we think about scientific approaches in basic research and clinical application. Adultand adolescent-onset muscular dystrophies (MDs) are a disorders that cause muscle disease (myopathy) characterized by progressive muscle weakness and muscle fibers degeneration (atrophy) which caused by alteration in one or more of genes needed for standard muscle function [5]. Most MDs are congenital disorders, but impulsive alteration can arise. Facioscapulohumeral is a genetic condition caused by abnormal expression of the DUX4 gene, People with FSHD2 have a mutation in the SMCHD1 gene. This study presents a new causative novel gene with pathogenic mutation discovered as a de novo mutation, then transferred by Autosomal dominant inheritance to the next generation of first cases. We have identified a heterozygous missense variant of RPTOR (RPTOR:NM_001163034:exon9:c.1093G>A:p.V365I) in this family. After searching we found this mutation to be significant and it is in a gene first time to be reported causing such symptoms and signs of the disease.
Corporate Real Estate Holdings and Financial Performance of Restaurant Firms

Most restaurant firms, by their operational nature, own and operate a large amount of corporate real estate (CRE), even though real estate is not their primary business activity. This is not only common across restaurant firms of different sizes but also linked to their sales and profitability. Borrowing the arguments of resourcebased theory and using financial data for the years between 1999 and 2014, this study investigated the relationship between CRE holdings and restaurant firm performance in the United States. Briefly, our findings demonstrate that the CRE ratio and the rent ratio, in particular, have different impacts on restaurant firms’ financial performance and marketdriven risk structures when different forward lags are considered.
Cost-Aware Partitioning for Efficient Large Graph Processing in Geo-Distributed Datacenters

Graph processing is an emerging computation model for a wide range of applications and graph partitioning is important for optimizing the cost and performance of graph processing jobs. Recently, many graph applications store their data on geo-distributed datacenters (DCs) to provide services worldwide with low latency. This raises new challenges to existing graph partitioning methods, due to the multi-level heterogeneities in network bandwidth and communication prices in geo-distributed DCs. In this article, we propose an efficient graph partitioning method named Geo-Cut, which takes both the cost and performance objectives into consideration for large graph processing in geo-distributed DCs. Geo-Cut adopts two optimization stages. First, we propose a cost-aware streaming heuristic and utilize the one-pass streaming graph partitioning method to quickly assign edges to different DCs while minimizing inter-DC data communication cost. Second, we propose two partition refinement heuristics which identify the performance bottlenecks of geo-distributed graph processing and refine the partitioning result obtained in the first stage to reduce the inter-DC data transfer time while satisfying the budget constraint. Geo-Cut can be also applied to partition dynamic graphs thanks to its lightweight runtime overhead. We evaluate the effectiveness and efficiency of Geo-Cut using real-world graphs with both real geo-distributed DCs and simulations. Evaluation results show that Geo-Cut can reduce the inter-DC data transfer time by up to 79 percent (42 percent as the median) and reduce the monetary cost by up to 75 percent (26 percent as the median) compared to state-of-the-art graph partitioning methods with a low overhead.
The Role of Autogenous Bone Marrow in the Healing of Experimental Burn Wound Healing in Rabbits

Objective- To evaluate the role of autogenous bone marrow (BM), in the healing of experimentally induced burn wound in rats. Design- Experimental in-vivo study. Animals- 20 adult male white New Zealand rabbits. Procedures- Two burn wounds were created under general anesthesia using a 100 W electric soldering iron, heated to the point of redness (about 800° C) on each side of the back, 4 cm apart. 2 mg/kg morphine was injected intramuscularly twice daily for four days to control pain. The scab was removed from the wound 48 hours after the wound creation, when daily rinsing the wounds with normal saline began and continued until the end of the study. 48 hours after the wound creation, 1 ml BM was aspirated from left tibial plateau and injected around the wounds of the treatment group at four points, (0.2 ml at each site). The same amount of normal saline was injected around the wounds of the control group. Half of the animals were sacrificed on day 7 and the rest, on day 14 for biomechanical and histopathological evaluations. Results- Histopathologically, on day seven, both groups showed complete necrosis of epidermis and superficial dermis. There was only a mild infiltration of inflammatory cells in treatment group. On day 14, re-epithelialization could be seen in both groups, but it was more prominent in treatment group. Biomechanically, there was no significant difference between the groups on day seven; whereas, all the biomechanical parameters were significantly more in treatment group, on day 14. It can be concluded that autogenous BM can augment the healing process of burn wounds, experimentally. Conclusion and Clinical Relevance- Considering the availability and the ease of harvesting BM, this simple and applicable method can be used to exaggerate burn wound healing in any clinical condition.
Damage precursor index (DPI) methodology for aviation structures

In this study, a Damage Precursor Index (DPI) methodology is proposed to track the evolution of fatigue damage precursors immediately after establishing the dynamic behavior of a structure. The DPI is used to measure the change in the state of fatigue damage precursors in structures exposed to vibration loads. The DPI is based on estimating the nonlinear dynamic parameters in isotropic materials prior to crack formation. The model accounts for the incubation and evolution of localized material microplasticity. Structural compliance due to the presence of the micro-plasticity is observed experimentally. The change in the dynamic response as a result of damage precursors is used to update the global dynamic parameters, which are used to calculate a corresponding DPI. The fatigue damage precursors are verified through series of macro/micromechanical characterizations of isotropic structures under vibration loads. The application of the DPI methodology to structural health monitoring systems may considerably improve health awareness in complex systems due to the addition of sensitivity to damage precursors.
How effective are regional development policies? Poland as a laboratory for the EU regional policy

The problem of uneven regional development has been formulated during late 1930s. Several schools of regional development theory have emerged: neo-classical, export base and growth poles based on Keynes’s analysis , cumulative causation theory of G.Myrdal with elements of institutional approach . Each of them has tried to answer the question how to stimulate more equitable economic growth. The main factors of growth: technological change and human capital have been treated as exogenous variables. 1 New growth theories that emerged in 1980s treated these variables as endogenous to the growth process. 2 Disparities in the development of regions were explained by different level of the quality of human capital and technologies.
TraViz: Visualization of Traces in Distributed Systems

In this work we present TraViz, an interactive visualization tool for exploring and analysing distributed traces to troubleshoot and debug performance problems in distributed systems. Through the use of composite filtering of multiple dimensions of the dataset, TraViz provides developers an easy to use way to find outlier traces. With TraViz’s traceview swimlane idiom, the users can drill down into a single trace to analyze the trace for performance issues at the detail level of an operating system thread. TraViz’s comparison idiom allows users to compare the Graphical structure of 2 traces of interest to highlight the key differences between the traces. The aggregation idiom allows users to find uncommon occuring events across traces by constructing a luminance coded super graph of all the distributed traces. Additionally, TraViz is the first visualization tool that provides an integrated view of the static source code of the system with dynamic information collected about the system via distributed traces which can help the users in identifying locations in the source code that would be ideal for performance optimizations.
University of Groningen Mitigation of unwanted direct and indirect land-use change – an integrated approach illustrated for palm oil, pulpwood, rubber and rice production in North and East Kalimantan, Indonesia

The widespread production of cash crops can result in the decline of forests, peatlands, rice fields and local community land. Such unwanted land-use and land-cover (LULC) change can lead to decreased carbon stocks, diminished biodiversity, displaced communities and reduced local food production. In this study, we analysed to what extent four main commodities, namely, palm oil, pulpwood, rice and rubber, can be produced in North and East Kalimantan in Indonesia without such unwanted LULC change. We investigated the technical potential of four measures to mitigate unwanted LULC change between 2008 and 2020 under low, medium and high scenarios, referring to the intensities of the mitigation measures compared with those implemented in 2008. These measures are related to land sparing through (i) the improvements of yields, (ii) chain efficiencies, (iii) chain integration and (iv) the steering of any expansion of these commodities to suitable and available underutilised (potentially degraded) lands. Our analyses resulted in a land-sparing potential of 0.4–1.2 Mha (i.e. 24–62% of the total land demand of the commodities) between 2008 and 2020, depending on the land-use projection of the four commodities and the scenario for implementing the mitigation measures. Additional expansion on underutilised land is the most important mitigation measure (45–62% of the total potential), followed by yield improvements as the second most important mitigation measure (32–46% of the total potential). Our study shows that reconciling the production of palm oil, pulpwood, rice and rubber with the maintenance of existing agricultural lands, forests and peatlands is technically possible only (i) under a scenario of limited agricultural expansion, (ii) if responsible land zoning is applied and enforced and (iii) if the yields and chain efficiencies are strongly improved.
Attending kindergarten improves cognitive but not socioemotional development in India

Pre-primary schooling is available but has low participation in many developing countries, which could exacerbate the socioeconomic gradient in readiness for primary school. We study the effects of expanding access to kindergarten on child development in Karnataka, India, through a randomized evaluation. We partnered with a private kindergarten provider to offer two-year scholarships to children in low-income families. Children who attend our partner’s kindergarten due to the scholarship experience a 0.8 standard deviation gain in cognitive development. About 40% of the effect persists through the first year of primary school. We find no effect on socioemotional development. Some children induced to attend our partner’s kindergarten would have attended no kindergarten, while others would have attended a different kindergarten. We use machine learning techniques to predict each child’s counterfactual activity and then estimate separate treatment effects for different types of switchers. The short-run effect on cognition is driven by children who would not have otherwise attended kindergarten, but the persistent component of the effect does not vary by counterfactual. ∗We thank UBS Optimus Foundation for funding this research; Tvisha Nevatia, Sadish Dhakal, Aditya Madhusudan, Akhila Kovvuri, Sachet Bangia, Alejandro Favela, Ricardo Dahis, and Ariella Park for research assistance; and Azzurra Ruggeri for advising us on measurement of child development. This study was preregistered in the AEA Trial Registry as AEARCTR0001078.
The influence of two meals per day of high‐fat diet feeding on clock gene of rat skeletal muscle

【Objective】Excess caloric intake is associated with the development of obesity. A number of recent studies suggest that attenuation of clock gene amplitude by high‐fat diet causes obesity. Normalizing to the clock gene amplitude can be considered to contribute for the prevention of obesity. Also endurance training has the effect for prevention of obesity, but influence on the disorder of clock gene by high‐fat diet intake is not clear. In the prevent study, we investigated the effects of high‐fat diet intake and endurance training on clock gene in rat skeletal muscle. 【Methods】Adult meal wistar rats(~270g) were used. Animals were randomly divided into three group; control diet (CON), high‐fat diet (HF) and high‐fat + training (HF+Tr). The ON animals were received a standard diet. HF and HF+Tr animals were received high‐fat diet containing of 62% fat as calories. All animals were feeding two times per day. The rats of each group were provided equal food volume per day for six weeks. HF+Tr animals were exercised on treadmill (90min/day and 5days a week). The mRNA expression of clock gene (Bmal1, Clock and Per2)in skeletal muscle were tested at four points(ZT2, ZT8, ZT14 and ZT20). 【Results and Conclusion】The body weight of HF was heavy significantly compared with CON and HF+Tr (p<0.001). In skeletal muscle Bmal1 and Per2 gene expressions were not affected by high‐fat diet. On the other hand, the am‐ plitude of Clock expression was attenuated in the HF and HF+Tr. In present study, we consider the attenuation of Clock expression in skeletal muscle might be caused by lipid metabolism abnormality. Therefore, high‐fat diet intake was suggested to become obesity.
Non-isotopic monotone Lagrangian submanifolds of C

Let P be a Delzant polytope in R with n+k facets. We associate a closed Lagrangian submanifold L of C to each Delzant polytope. We prove that L is monotone if and only if and only if the polytope P is Fano. Also, we pose the “Lagrangian version of Delzant theorem”. Let n and p be even integers. Assume p is greater than 3, n > 2p. We construct p 2 monotone Lagrangian embeddings of Sp−1 × Sn−p−1 × T 2 into C, no two of which are related by Hamiltonian isotopies. Some of these embeddings are smoothly isotopic and have equal minimal Maslov numbers, but they are not Hamiltonian isotopic. Also, we construct infinitely many non-monotone embeddings of S2p−1 × S2p−1 × T 2 into C, no two of which are related by Hamiltonian isotopies.
Competitive Insurance Markets with Unbounded Cost

Azevedo and Gottlieb [2017] (AG) define a notion of equilibrium that always exists in the Rothschild and Stiglitz [1976] (RS) model of competitive insurance markets, provided costs are bounded. However, equilibrium predictions are sensitive to assumptions made about the upper bound of cost: introducing an infinitesimal mass of high cost individuals discretely increases all equilibrium prices and reduces coverage for all individuals. We measure model sensitivity to these assumptions by considering sequences of economies with increasing upper bounds of cost, and determining whether the sequence of their equilibria converges. We present sufficient conditions under which AG equilibrium exists when cost is unbounded. For simple insurance markets, we derive a condition which is necessary and sufficient for existence: surplus from insurance must increase faster than linearly with expected cost. This condition is empirically common. If this condition does not hold, a wider range of costs results in market unraveling because all prices increase without bound and, in the limit, an AG equilibrium does not exist. We use these results to show that the equilibrium for an insurance market with an unbounded continuum of types is characterised by a simple differential equation. We also provide examples of non- existence for lemons markets (where a single insurance product is available) with unbounded cost.
Detection of Drug Resistant Klebsiella Pneumoniae from Various Clinical Samples in Tertiary Care Hospital, Central India: In Context with Β- Lacatamase Enzymes (ESBL, Ampc, MBL and Carbapenemase)

Original Research Article Multi drug resistant (MDR) and extensive drug resistant (XDR) Klebsiella pneumoniae infection is very common and causes high morbidity and mortality in community acquired as well as hospital acquired infection. Here, we present a study to detect MDR, XDR and pan drug resistant and characterize extended spectrum β-lactamase, AmpC βlactamase, metallo β-lactamase and carbapenemase producing K. pneumoniae isolates from different human clinical samples. A total 124 K. pneumoniae isolated from various clinical samples. Antimicrobial susceptibility of K. pneumoniae isolates was performed by Kirby-Bauer disk diffusion. The resistant isolates were tested for ESBL, AmpC, MBL and Carbapenemase production by their respective phenotypic confirmatory test. Distribution of MDR, XDR and PDR detected according to antimicrobial resistance pattern as per guideline. Total 124 K.pneumoniae isolated from various clinical samples, Isolates were maximum resistant to Ceftazidime 81% and least resistant to Imipenem 15%. 45% of K. pneumoniae was MDR, 30% were XDR and no isolate was PDR. ESBL production was seen in 48.3%, AmpC in 6%, MBL in 3.2% and Carbapenemase in 11% of isolates. The study indicates that inadvert uses of antibiotics promote the emergence, persistence, and dissemination of resistant isolates in the community as well as hospital environment. Periodic review of antibiotic policy is necessary for rationalized use of antibiotics.
Delft University of Technology A convex approximation for optimal DER scheduling on unbalanced power distribution networks

The increase of solar photovoltaic penetration poses several challenges for distribution network operation, mainly because such high penetration might cause reliability problems like protection malfunctioning, accelerated decay of voltage regulators and voltage violations. Existing solutions based on mathematical programming solve a 3-phase ACOPF to optimally exploit the available energy, however, this might increase all reliability problems above if done carelessly. As a solution to optimally exploit DERs (like local photovoltaic and storage systems) without compromising the network reliability, this paper presents a novel algorithm to solve the 3-phase ACOPF as a sequence of convex Quadratically Constrained Quadratic Programs. Results show that this solution has a lower voltage unbalance and computation time than its non-linear counterpart, furthermore, it converges to a primal feasible point for the non-linear formulation without major sacrifices on optimal DER active power injections.
Département des Sciences Économiques de l'Université catholique de Louvain Market Games and Successive Oligopolies

This paper first introduces an approach relying on market games to examine how successive oligopolies do operate between downstream and upstream markets. This approach is then compared with the traditional analysis of oligopolistic interaction in successive markets. The market outcomes resulting from the two approaches are analysed under different technological regimes, decreasing vs constant returns.
PLANNING AND DESIGN TOOLS FOR SUSTAINABLE HOUSING DEVELOPMENT FOR HEALTHY LIVING – EFFECT OF BUILDING RE-ENTRANT ON VENTILATION EFFECTIVENESS IN HIGH-RISE RESIDENTIAL BUILDINGS

In the design process of a residential development, various site planning and building or layout fine-tuning stages would be involved. The unique high-rise, high-density urban context and the hot and humid climate conditions in Hong Kong are important considerations in designing a comfortable and healthy built environment. Building re-entrants are most popular in high rise and high density residential buildings in Hong Kong, partly due to the Building (Planning) Regulations. Windows of the kitchens and bathrooms as well as living or dining rooms are open towards the re-entrants for sources of natural lighting and ventilation. The quality of the air in the re-entrant will determine the quality of ventilation introduced to the indoor. This paper describes some investigations on variation of the dimension of typical I-shaped re-entrant making use of the powerful simulation tools based on computational fluid dynamics (CFD) techniques on the ventilation effectiveness of the re-entrant. The results show the optimum aspect ratio of the dimension of a re-entrant.
Shared neural resources of rhythm and syntax: An ALE meta-analysis

A growing body of evidence has highlighted behavioral connections between musical rhythm and linguistic syntax, suggesting that these may be mediated by common neural resources. Here, we performed a quantitative meta-analysis of neuroimaging studies using activation likelihood estimate (ALE) to localize the shared neural structures engaged in a representative set of musical rhythm (rhythm, beat, and meter) and linguistic syntax (merge movement, and reanalysis). Rhythm engaged a bilateral sensorimotor network throughout the brain consisting of the inferior frontal gyri, supplementary motor area, superior temporal gyri/temporoparietal junction, insula, the intraparietal lobule, and putamen. By contrast, syntax mostly recruited the left sensorimotor network including the inferior frontal gyrus, posterior superior temporal gyrus, premotor cortex, and supplementary motor area. Intersections between rhythm and syntax maps yielded overlapping regions in the left inferior frontal gyrus, left supplementary motor area, and bilateral insula—neural substrates involved in temporal hierarchy processing and predictive coding. Together, this is the first neuroimaging meta-analysis providing detailed anatomical overlap of sensorimotor regions recruited for musical rhythm and linguistic syntax.
An Overview on the Effects of Silibinin on Different MicroRNAs Expression in Cancer

MicroRNAs (miRNAs) are small non-coding RNAs that regulate the expression of about 60% of human genomes. Silibinin or mixture of silybin A and B is a flavonolignans that constitute 70-80% Silymarin which is considered to be its main effective ingredient. Silibinin revealed antioxidant and anti-inflammatory effects by scavenging free radicals, improving antioxidant enzymatic activities, and suppressing NF-кβ activation. One of the recent discoveries about the functions of silibinin, is its ability to change different miRNAs expression, especially in cancer. For instance, silibinin decreases Bcl2 level by inhibiting miR-21 expression in breast cancer cells that leads to apoptosis. Silibinin elevates miR-203 expression in lung cancer cells that causes stimulation of E-cadherin. The component can differentiate mesenchymal phonotype to epithelial. Also, treatment of glioblastoma cancer cells with silibinin diminishes anti-apoptosis factor XIAP by upregulation of miR-7 that causes prevention of autophagia in these cells. Therefore, silibinin could induce apoptosis and differentiation and inhibit proliferation in different cancer cells via regulation of various miRNAs expression. In this review study we aimed to summarize the studies about the effects of silibinin on different miRNAs expression in various types of cancer cells to distinguish the exact mechanism of silibinin anti-cancer effects.