LLukas22/scidocs huggingface dataset:
A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits

Our knowledge of the genetic factors affecting obesity is increasing, but information about the individual gene effects remains limited in humans as well as in animal models. The melanocortin-4 receptor gene (MC4R) has been implicated in the regulation of feeding behavior and body weight in humans and mice. We have studied MC4R as a candidate gene for the control of economically important growth and performance traits in the pig. A missense mutation was identified in a region highly conserved among melanocortin receptor (MCR) genes. To determine whether there was an association of this MC4R polymorphism with phenotypic variation, we tested the mutation in a large number of individual animals from several different pig lines. Analyses of growth and performance test records showed significant associations of MC4R genotypes with backfat and growth rate in a number of lines as well as feed intake overall. It is probable that the variant amino acid residue of the MC4R mutation (or a closely linked mutation) causes a significant change of the MC4R function. These results support the functional significance of a pig MC4R missense mutation and suggest that comparative genomics based on model species may be equally important for application to farm animals as they are for human medicine.
Exploring Risks in Smart City Infrastructure Projects: Municipal Broadband Initiatives

In recent years, cities are under increasing pressure to transform education, health care, transportation, civic engagement, public safety as well as other government services to maintain their competitiveness and improve citizen’s quality of life. This transformation is known as “smart city” initiatives. Broadband network infrastructure is an important underlying infrastructure for smart city projects. This study investigates risks in municipal broadband projects led by local government. Our goal is to develop a middle range theory to explain risks and their interrelationships. We first used grounded theory to identify a set of risks from archival and interview data. Next, we used revealed causal mapping analysis to develop a model of risks and their linkages. Our results suggest five risk categories: socio-political risks, approval risks, financial risks, technical risks, and partnership and resource management risks. We also found that several risk categories are intertwined. In particular, socio-political risks have impacts on other risks. Therefore, risk management and risk mitigation strategies need to take a holistic view towards all risks and their interconnections instead of focusing on each type of risks in isolation.
Attention-Based Models for Speech Recognition

Recurrent sequence generators conditioned on input data through an attention mechanism have recently shown very good performance on a range of tasks including machine translation, handwriting synthesis [1, 2] and image caption generation [3]. We extend the attention-mechanism with features needed for speech recognition. We show that while an adaptation of the model used for machine translation in [2] reaches a competitive 18.7% phoneme error rate (PER) on the TIMIT phoneme recognition task, it can only be applied to utterances which are roughly as long as the ones it was trained on. We offer a qualitative explanation of this failure and propose a novel and generic method of adding location-awareness to the attention mechanism to alleviate this issue. The new method yields a model that is robust to long inputs and achieves 18% PER in single utterances and 20% in 10-times longer (repeated) utterances. Finally, we propose a change to the attention mechanism that prevents it from concentrating too much on single frames, which further reduces PER to 17.6% level.
A Sublinear Additive Sieve for Finding Prime Numbers

Paul Pritchard University of Queensland, Australia greater bit complexity than Eratos~henes' sieve, even when they use the fastest known multiplication algorithm (that of Schonhiige and Strassen; see [1]). We present here a sublinear additive sieve algorithm. It is obtained by first transforming a linear multiplicative sieve algorithm developed by Mairson [8] so that only O(N/log log N) operations are required. We then show how multiplications can be avoided, giving an algorithm with an arithmetic complexity of O(N/log log N ) additions.
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

BACKGROUND & AIMS
Severe forms of inflammatory bowel disease (IBD) that develop in very young children can be caused by variants in a single gene. We performed whole-exome sequence (WES) analysis to identify genetic factors that might cause granulomatous colitis and severe perianal disease, with recurrent bacterial and viral infections, in an infant of consanguineous parents.


METHODS
We performed targeted WES analysis of DNA collected from the patient and her parents. We validated our findings by a similar analysis of DNA from 150 patients with very-early-onset IBD not associated with known genetic factors analyzed in Toronto, Oxford, and Munich. We compared gene expression signatures in inflamed vs noninflamed intestinal and rectal tissues collected from patients with treatment-resistant Crohn's disease who participated in a trial of ustekinumab. We performed functional studies of identified variants in primary cells from patients and cell culture.


RESULTS
We identified a homozygous variant in the tripartite motif containing 22 gene (TRIM22) of the patient, as well as in 2 patients with a disease similar phenotype. Functional studies showed that the variant disrupted the ability of TRIM22 to regulate nucleotide binding oligomerization domain containing 2 (NOD2)-dependent activation of interferon-beta signaling and nuclear factor-κB. Computational studies demonstrated a correlation between the TRIM22-NOD2 network and signaling pathways and genetic factors associated very early onset and adult-onset IBD. TRIM22 is also associated with antiviral and mycobacterial effectors and markers of inflammation, such as fecal calprotectin, C-reactive protein, and Crohn's disease activity index scores.


CONCLUSIONS
In WES and targeted exome sequence analyses of an infant with severe IBD characterized by granulomatous colitis and severe perianal disease, we identified a homozygous variant of TRIM22 that affects the ability of its product to regulate NOD2. Combined computational and functional studies showed that the TRIM22-NOD2 network regulates antiviral and antibacterial signaling pathways that contribute to inflammation. Further study of this network could lead to new disease markers and therapeutic targets for patients with very early and adult-onset IBD.
Why tilapia is becoming the most important food fish on the planet.

Tilapia has become the shining star of aquaculture with farms starting and expanding across the globe while consumption races ahead of even the most ambitious farm building plans. 2010 saw farmed tilapia exceed 3.2 million metric tons per annum, surging further ahead of the salmon and catfish industries. We are also seeing an explosion of product forms in the grocery stores that is only matched by the variety of preparations we see in the restaurant trade. The global adoption of tilapia as a substitute for all kinds of wild-caught fish has driven demand higher every year, even through the global recession of recent years. The description of tilapia as an “aquatic chicken” becomes more accurate every day. It’s wide acceptance across all cultural, religious, and economic groups is similar to chicken. A variety of breeds and strains have been developed and by most measures, tilapia is now the most highly domesticated of farmed fishes. Unique amongst the major farmed fishes, tilapia maintains a key role in rural aquaculture improving the welfare of the poorest farmers while at the same time, it is reared in the most high tech production systems and is sold into international markets for up-scale markets. Tilapia is still the darling of the environmental community and the industry continues to polish its “green” credentials. Three or four closely related species of tilapias readily hybridize in captivity and produce fecund F1 progeny. This has provided a huge genetic base for the geneticists to perform basic selective breeding. The domestication of tilapias has been a great driver of productivity during the 1990’s and 2000’s. There is also a concerted effort to describe the tilapia genome. When these genetic maps are distributed we can expect a second wave of genetic research that should further improve productivity. All of this will have been accomplished without the need of transgenics or genetically modified organisms. The basic biology of the fish along with the skill of traditional breeders has provided all of the progress to this point and much more in the near future. Tilapia continues its march towards eventually overtaking carp as the most important farmed fish crop. With a much wider distribution of production and consumption and a huge base of value added product forms, it is almost certain that tilapia production will someday eclipse that of carp. As tilapia production and consumption grows globally, it is likely to become the foundation product for all farmed fishes, just as chicken is the base for the poultry industry. So someday soon instead of referring to tilapia as the aquatic chicken we may be referring to chicken as the “terrestrial tilapia”.
Single-electron transfer and single-electron transfer degenerative chain transfer living radical polymerization.

4.1.6. Use of Commercial-Grade Reagents 5083 4.1.7. Other Experimental Considerations 5083 4.2. Monomer Compatibility 5083 4.2.1. Acrylates 5083 4.2.2. Methacrylates 5084 4.2.3. Vinyl Halides 5084 4.2.4. Other Monomers 5084 4.2.5. Tolerance of Radical Inhibitors 5084 4.3. Catalyst Compatibility 5085 4.3.1. Cu0 Powder and Cu0 Wire 5085 4.3.2. Cu Salts 5085 4.4. Initiators 5086 4.4.1. Haloforms 5086 4.4.2. R-Haloesters 5086 4.4.3. Sulfonyl Halides 5086 4.4.4. Other Initiators 5087 4.5. Solvents 5087 4.5.1. DMSO 5087 4.5.2. Alcohols 5087 4.5.3. Ionic Liquids 5087 4.5.4. Other Solvents and Binary Mixtures of Solvents 5087
Classification and evaluation of data mining techniques for data stream requirements

In recent years, the management and processing of data streams has become a topic of active research in several fields of computer science, such as distributed systems, database systems, and data mining. In data streams' applications, such as network monitoring, telecommunication systems and sensor networks, because of online monitoring, answering to the user's queries should be time and space efficient. Generally, two main challenges are to design fast mining methods for data streams and the need to promptly detect changing concepts and data distribution because of highly dynamic nature of data streams. The goal of this article is to analyze and classify the application of diverse data mining techniques in different challenges of data stream mining. For this goal, this article tries to categorize and analyze related researches for better understanding and to reach a framework that can map data mining techniques to data stream mining challenges and requirements.
Perfusion CT findings in patients with metastatic carcinoid tumors undergoing bevacizumab and interferon therapy.

OBJECTIVE
The purpose of this article is to assess tumor changes on perfusion CT with bevacizumab and interferon (IFN) therapy in patients with metastatic carcinoid tumors and to evaluate perfusion CT differences between the two therapies.


SUBJECTS AND METHODS
In a phase 2 clinical trial, 44 patients were randomized to receive monotherapy with bevacizumab or IFN for 18 weeks (stage 1), followed by dual-therapy with both drugs (stage 2). Twenty-four patients consented to have optional perfusion CT examinations, which were undertaken at baseline and 18 weeks and at intervening 2 days (bevacizumab arm) or 9 weeks (IFN arm), and subsequently at 2 days after the addition of bevacizumab (IFN arm) and 9 weeks after the addition of IFN (bevacizumab arm). Tumor blood flow, blood volume, and permeability were evaluated.


RESULTS
In the bevacizumab arm (n = 12), mean (± SD) blood flow reduced significantly after 2 days compared with baseline (16.2 ± 6.9 vs 32.3 ± 21.3 mL/min/100 g; p = 0.02), a 41.4% reduction (p < 0.0001) that was relatively fixed. Blood volume was similarly reduced from baseline values (2.8 ± 1.3 vs 4.3 ± 2.1 mL/100 g; p = 0.02), a 27.9% reduction (p < 0.02). Both measures remained essentially unchanged at 18 weeks. Similar changes in blood flow and blood volume were observed with the addition of bevacizumab in stage 2. No significant changes in blood flow or blood volume were detected in the IFN arm (n = 12), and no significant changes in permeability were detected in either arm.


CONCLUSION
Perfusion CT detects significant changes in perfusion parameters in metastatic carcinoid tumors treated with bevacizumab. Such changes are apparent just 2 days into therapy, are sustained, and are significantly different from those associated with IFN treatment. Tumor blood flow decreased with bevacizumab treatment by a relatively fixed percentage relative to baseline measurements.
Balloon Angioplasty Combined with Primary Stenting Versus Balloon Angioplasty Alone in Femoropopliteal Obstructions: A Comparative Randomized Study

Purpose: To evaluate whether balloon angioplasty combined with stenting (ST) of symptomatic femoropopliteal disease would provide better results compared with balloon angioplasty alone (BA). Methods: Fifty-one patients were randomized between ST (24 patients) and BA (27 patients). Follow-up comprised clinical and hemodynamic assessment and color-flow duplex ultrasound examinations. Results: Residual stenosis (≥ 30% diameter reduction) occurred in three BA patients, but not in the ST patients. By life-table analysis the cumulative rate of clinical and hemodynamic success after 1 year with ST was 74% (SE 9%) and for those with BA 85% (SE 7%) (p= 0.25). The primary patency at 1 year assessed by color-flow duplex ultrasound was 62% (SE 9%) for ST-treated patients and 74% (SE 8%) for BA patients (p= 0.22). Occlusion occurred in five ST patients (21%) compared with two BA patients (7%). Conclusion: ST does not improve clinical and hemodynamic outcome compared with BA. Moreover, the occlusion rate in ST-treated patients is higher.
International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) revised glossary of ART terminology, 2009.

OBJECTIVE
Many definitions used in medically assisted reproduction (MAR) vary in different settings, making it difficult to standardize and compare procedures in different countries and regions. With the expansion of infertility interventions worldwide, including lower resource settings, the importance and value of a common nomenclature is critical. The objective is to develop an internationally accepted and continually updated set of definitions, which would be utilized to standardize and harmonize international data collection, and to assist in monitoring the availability, efficacy, and safety of assisted reproductive technology (ART) being practiced worldwide.


METHOD
Seventy-two clinicians, basic scientists, epidemiologists and social scientists gathered together at the World Health Organization headquarters in Geneva, Switzerland, in December 2008. Several months before, three working groups were established as responsible for terminology in three specific areas: clinical conditions and procedures, laboratory procedures, and outcome measures. Each group reviewed the existing International Committee for Monitoring Assisted Reproductive Technology glossary, made recommendations for revisions and introduced new terms to be considered for glossary expansion.


RESULT(S)
A consensus was reached on 87 terms, expanding the original glossary by 34 terms, which included definitions for numerous clinical and laboratory procedures. Special emphasis was placed in describing outcome measures, such as cumulative delivery rates and other markers of safety and efficacy in ART.


CONCLUSION(S)
Standardized terminology should assist in analysis of worldwide trends in MAR interventions and in the comparison of ART outcomes across countries and regions. This glossary will contribute to a more standardized communication among professionals responsible for ART practice, as well as those responsible for national, regional, and international registries.
Incumbent Advantage , Voter Information and Vote Buying ∗

Results from a new experiment in the Philippines shed light on the effects of voter information on vote buying and incumbent advantage. The treatment provided voters with information about the existence of a major spending program and the proposed allocations and promises of mayoral candidates just prior municipal elections. It left voters more knowledgeable about candidates’ proposed policies and increased the salience of spending. Treated voters were more likely to be targeted for vote buying. We develop a model of vote buying that accounts for these results. The information we provided attenuated incumbent advantage, prompting incumbents to increase their vote buying in response. Consistent with this explanation, both knowledge and vote buying impacts were higher in incumbent-dominated municipalities. Our findings show that, in a political environment where vote buying is the currency of electoral mobilization, incumbent efforts to increase voter welfare may take the form of greater vote buying. ∗This project would not have been possible without the support and cooperation of PPCRV volunteers in Ilocos Norte and Ilocos Sur. We are grateful to Michael Davidson for excellent research assistance and to Prudenciano Gordoncillo and the UPLB team for collecting the data. We thank Marcel Fafchamps, Clement Imbert, Pablo Querubin, Simon Quinn and two anonymous reviewers for constructive comments on the pre-analysis plan. Pablo Querubin graciously shared his precinct-level data from the 2010 elections with us. We thank conference and seminar participants at Gothenburg, Copenhagen, and Oxford for comments. The project received funding from the World Bank and ethics approval from the University of Oxford Economics Department (Econ DREC Ref. No. 1213/0014). All remaining errors are ours. The opinions and conclusions expressed here are those of the authors and not those of the World Bank or the Inter-American Development Bank. †University of British Columbia; email: cesi.cruz@ubc.ca ‡Inter-American Development Bank; email: pkeefer@iadb.org §Oxford University; email: julien.labonne@bsg.ox.ac.uk
Evolutionary cell biology: Lessons from diversity

Novel perspectives emerge from a recent conference on the origins of eukaryotic cells, which covered phylogenetics, population genetics and evolutionary consequences of energy requirements and host–pathogen interactions.
Insurance coverage and subsequent utilization of complementary and alternative medicine providers.

BACKGROUND
Since 1996, Washington State law has required that private health insurance cover licensed complementary and alternative medicine (CAM) providers.


OBJECTIVE
To evaluate how insured people used CAM providers and what role this played in healthcare utilization and expenditures.


STUDY DESIGN
Cross-sectional analysis of insurance enrollees from western Washington in 2002.


METHODS
Analysis of insurance demographic data, claims files, benefit information, diagnoses, CAM and conventional provider utilization, and healthcare expenditures for 3 large health insurance companies.


RESULTS
Among more than 600,000 enrollees, 13.7% made CAM claims. This included 1.3% of enrollees with claims for acupuncture, 1.6% for naturopathy, 2.4% for massage, and 10.9% for chiropractic. Patients enrolled in preferred provider organizations and point-of-service products were notably more likely to use CAM than those with health maintenance organization coverage. The use of CAM was greater among women and among persons 31 to 50 years of age. The use of chiropractic was more frequent in less populous counties. The CAM provider visits usually focused on musculoskeletal complaints except for naturopathic physicians, who treated a broader array of problems. The median per-visit expenditures were 39.00 dollars for CAM care and 74.40 dollars for conventional outpatient care. The total expenditures per enrollee were 2589 dollars, of which 75 dollars(2.9%) was spent on CAM.


CONCLUSIONS
The number of people using CAM insurance benefits was substantial; the effect on insurance expenditures was modest. Because the long-term trajectory of CAM cost under third-party payment is unknown, utilization of these services should be followed.
Single spins in self-assembled quantum dots

Self-assembled quantum dots have excellent photonic properties. For instance, a single quantum dot is a high-brightness, narrow-linewidth source of single photons. Furthermore, the environment of a single quantum dot can be tailored relatively easily using semiconductor heterostructure and post-growth processing techniques, enabling electrical control of the quantum dot charge and control over the photonic modes with which the quantum dot interacts. A single electron or hole trapped inside a quantum dot has spintronics applications. Although the spin dephasing is rather rapid, a single spin can be manipulated using optical techniques on subnanosecond timescales. Optical experiments are also providing new insights into old issues, such as the central spin problem. This Review provides a snapshot of this active field, with some indications for the future. It covers the basic materials and optical properties of single quantum dots, techniques for initializing, manipulating and reading out single spin qubits, and the mechanisms that limit the electron-spin and hole-spin coherence.
Osteonecrosis of the jaw after implant surgery in patients treated with bisphosphonates--a presentation of six consecutive cases.

BACKGROUND
Osteonecrosis of the jaws in patients treated with bisphosphonates is mostly associated with intravenous bisphosphonates while the incidence associated with oral bisphosphonates is not significant.


PURPOSE
The purpose of this paper is to describe a series of cases of jaw osteonecrosis that may be associated with dental implant placement in patients who had taken nitrogen containing bisphosphonates via oral and/or intravenous route.


PATIENTS
Six female patients were treated for osteonecrosis of the jaw after implant placement. An average age was 71.8 ± 6.5 years old and they had a history of bisphosphonate use. Two patients suffered from cancer and the other patients had osteoporosis. Two osteoporosis patients had taken only oral bisphosphonate and the other patients received intravenous bisphosphonates.


RESULTS
Resection of necrotized bone, implant removal, and primary closure were performed in five patients and four patients showed uneventful healing. One patient presented recurrence at the maxilla and underwent further extraction and resection. One patient presented with an exposure of the bone after implant placement was treated with an advanced flap closure, and the implants were preserved.


CONCLUSION
Unusual jaw necrosis after dental implant surgery might be related with oral and/or intravenous bisphosphonates. Wide resection of necrotic bone, collagen graft, and primary closure are key factors for successful healing.