Miracle-dz/UniFAR-FTUs huggingface dataset:
A Customized Pigmentation SNP Array Identifies a Novel SNP Associated with Melanoma Predisposition in the SLC45A2 Gene

As the incidence of Malignant Melanoma (MM) reflects an interaction between skin colour and UV exposure, variations in genes implicated in pigmentation and tanning response to UV may be associated with susceptibility to MM. In this study, 363 SNPs in 65 gene regions belonging to the pigmentation pathway have been successfully genotyped using a SNP array. Five hundred and ninety MM cases and 507 controls were analyzed in a discovery phase I. Ten candidate SNPs based on a p-value threshold of 0.01 were identified. Two of them, rs35414 (SLC45A2) and rs2069398 (SILV/CKD2), were statistically significant after conservative Bonferroni correction. The best six SNPs were further tested in an independent Spanish series (624 MM cases and 789 controls). A novel SNP located on the SLC45A2 gene (rs35414) was found to be significantly associated with melanoma in both phase I and phase II (P<0.0001). None of the other five SNPs were replicated in this second phase of the study. However, three SNPs in TYR, SILV/CDK2 and ADAMTS20 genes (rs17793678, rs2069398 and rs1510521 respectively) had an overall p-value<0.05 when considering the whole DNA collection (1214 MM cases and 1296 controls). Both the SLC45A2 and the SILV/CDK2 variants behave as protective alleles, while the TYR and ADAMTS20 variants seem to function as risk alleles. Cumulative effects were detected when these four variants were considered together. Furthermore, individuals carrying two or more mutations in MC1R, a well-known low penetrance melanoma-predisposing gene, had a decreased MM risk if concurrently bearing the SLC45A2 protective variant. To our knowledge, this is the largest study on Spanish sporadic MM cases to date.
Can We Dissociate Contingency Learning from Social Learning in Word Acquisition by 24-Month-Olds?

We compared 24-month-old children’s learning when their exposure to words came either in an interactive (coupled) context or in a nonsocial (decoupled) context. We measured the children’s learning with two different methods: one in which they were asked to point to the referent for the experimenter, and the other a preferential looking task in which they were encouraged to look to the referent. In the pointing test, children chose the correct referents for words encountered in the coupled condition but not in the decoupled condition. In the looking time test, however, they looked to the targets regardless of condition. We explore the explanations for this and propose that the different response measures are reflecting two different kinds of learning.
Fracture risk assessment without race/ethnicity information.

CONTEXT Dual-energy x-ray absorptiometry-derived bone mineral density (BMD) does not explain interracial differences in fracture risk; thus, BMD-based fracture risk assessment requires patient race/ethnicity information and ethnicity-specific BMD reference databases. OBJECTIVE The objective of the study was to investigate whether composite femoral neck strength indices, which integrate dual-energy x-ray absorptiometry-derived femoral neck size, femoral neck BMD, and body size, will allow fracture risk assessment without requiring race/ethnicity information. DESIGN This was a prospective cohort study. SETTING AND PARTICIPANTS A total of 1940 community-dwelling women aged 42-53 yr from four race/ethnicity groups (968 Caucasian, 512 African-American, 239 Japanese, and 221 Chinese) were followed up for 9 yr. OUTCOME MEASUREMENTS Self-reported, nondigital, noncraniofacial fractures were measured. RESULTS Two hundred and two women (10.4%) sustained fractures and 82 (4.3%) had minimum-trauma fractures. Each sd increment in any of the strength indices was associated with a 34-41% reduction in fracture hazard over 9 yr (each P<0.001). Race/ethnicity predicted fracture hazard independent of BMD (P=0.02) but did not predict fracture hazard independent of any of the composite indices (P=0.11-0.22). Addition of race/ethnicity did not improve risk discrimination ability of the strength indices, but did significantly improve the discrimination ability of BMD. The discrimination ability of BMD with race/ethnicity was not statistically different from that of any of the strength indices without race/ethnicity. CONCLUSIONS Composite strength indices of the femoral neck can predict fracture risk without race/ethnicity information as accurately as bone mineral density does in combination with race/ethnicity information and therefore would allow risk prediction in people of mixed race/ethnicity and in groups without a BMD reference database.
Study on generation of harmonic voltage using synchronous machine with d-axis and q-axis harmonic field windings - part 2

We investigated the harmonic voltages generated by a synchronous machine adding d- and q-axis harmonic field windings to reduce the harmonics in a power line. First, electronic circuits such as a frequency multiplier, band-pass filter, and phase shifter were newly designed and made to carry out the experiment. Next, an experimental circuit, for which an AC voltage of frequency 6f synchronized to the power line voltage of frequency f could be obtained, was constructed to examine the generation of harmonic voltage in more detail. Finally, an experiment involving the generation of harmonic voltage was performed using an experimental synchronous generator with harmonic windings in the d- and q-axis. In this paper, the experimental results on the generation of harmonic voltage by the synchronous machine are presented.
The many faces of Dicer: the complexity of the mechanisms regulating Dicer gene expression and enzyme activities

There is increasing evidence indicating that the production of small regulatory RNAs is not the only process in which ribonuclease Dicer can participate. For example, it has been demonstrated that this enzyme is also involved in chromatin structure remodelling, inflammation and apoptotic DNA degradation. Moreover, it has become increasingly clear that cellular transcript and protein levels of Dicer must be strictly controlled because even small changes in their accumulation can initiate various pathological processes, including carcinogenesis. Accordingly, in recent years, a number of studies have been performed to identify the factors regulating Dicer gene expression and protein activity. As a result, a large amount of complex and often contradictory data has been generated. None of these data have been subjected to an exhaustive review or critical discussion. This review attempts to fill this gap by summarizing the current knowledge of factors that regulate Dicer gene transcription, primary transcript processing, mRNA translation and enzyme activity. Because of the high complexity of this topic, this review mainly concentrates on human Dicer. This review also focuses on an additional regulatory layer of Dicer activity involving the interactions of protein and RNA factors with Dicer substrates.
Pilot study of liraglutide effects in non‐alcoholic steatohepatitis and non‐alcoholic fatty liver disease with glucose intolerance in Japanese patients (LEAN‐J)

Non‐alcoholic fatty liver disease (NAFLD), a hepatic manifestation of metabolic syndrome, is associated with an increased risk of developing lifestyle‐related diseases including type 2 diabetes, cardiovascular disease and cerebral vessel disease. No current drug therapy provides the ideal effects of decreasing hepatic inflammation while simultaneously improving liver fibrosis. Liraglutide is a glucagon‐like peptide‐1 receptor agonist that affects the histological findings in patients with non‐alcoholic steatohepatitis (NASH). This study was conducted to evaluate the effect and action of liraglutide for biopsy‐proven NASH.
Evolving a Corporate Software Quality Assessment Exercise : A Migration Path to ISO / IEC 9126 How

ways in which the quality model behind MITRE Corporation’s Software Quality Assessment Exercise (SQAE) can be migrated to ISO/IEC 9126:2001. The reasons why such a migration is desirable are detailed through a comparison of the quality models supporting ISO/IEC 9126 and SQAE. The problem is solved through the definition and usage of an abstraction layer between the two quality models. The resulting model is examined and further improvements are suggested to ensure compliance with ISO/IEC 9126.
Simulating autistic patients as agents with corrupted reasoning about mental states

We build the logical model for such mental disorder as autism. The formalism reproduces corrupted reasoning about knowledge, belief and intentions and is subject to experimental evaluation based on the set of multi-agent scenarios. The distinguishing features of autistic reasoning to are analyzed to construct the so~vare tools for diagnosis and traiIfing of the children with autism and accompanying mental disorders.
Physical Layer Security Improvement by Constellation Selection and Artificial Interference

We propose a novel physical layer scheme to suppress eavesdropping. Different from the existing schemes which are based on secrecy rate enhancement with Gaussian signal, our scheme is executed from the actual signal point of view. In our scheme, we set several structures of constellations for each modulation mode, and then different structures are utilized for different signals' modulations. In this case, on one hand, even though the eavesdropper knows this modulation mode, he#x002F;she is difficult to demodulate each signal. On the other hand, the information related to this constellation selection is safely delivered to the authorized user by a well-designed mechanism. Moreover, an auxiliary artificial interference method is introduced for further confusing the eavesdropper. In a word, our scheme is feasible for physical layer security improvement.
The Role of Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) in the Treatment of Patients With Hepatic Disease: A Review Article

Context Patients with hepatic dysfunction suffer from many problems and associated complications in organs other than the liver. Therefore, it is very important to investigate the effects of different drugs in the treatment of these patients. Due to the high consumption of non-steroidal anti-inflammatory drugs (NSAIDs), studying the effects of these drugs in patients with hepatic dysfunction is particularly important. Evidence Acquisition Research studies published from 1958 to 2014 were investigated in the present study. The literature search was conducted based on the following keywords: non-steroidal anti-inflammatory drugs (NSAIDs), liver dysfunction, cirrhosis, pharmaceutical complications, drug-induced liver injury (DILI), and similar words from reliable resources. In total, 63 articles and two books (out of 179 initially identified resources) were included in the study. Results In addition to significant hemostatic disorders and cardiovascular disorders, disorders of the renal, respiratory, and gastrointestinal systems, as well as disorders of the central nervous system, occur in patients with hepatic dysfunction. The various NSAIDs have different effects on different bodily systems. Therefore, the appropriate drug should be chosen based on both the condition of the disease and the severity of the dysfunction. Conclusions Due to the potential adverse effects of NSAIDs in patients with hepatic disease, their impact on all bodily systems should be emphasized when determining whether their use is necessary. Further, the appropriate medication should be selected after a careful assessment of the severity of the disease and any associated complications. It is logical that medicines should only be prescribed by a qualified physician.
Effects of different substrates on the sprint performance of lizards

SUMMARY The variation in substrate structure is one of the most important determinants of the locomotor abilities of lizards. Lizards are found across a range of habitats, from large rocks to loose sand, each of them with conflicting mechanical demands on locomotion. We examined the relationships among sprint speed, morphology and different types of substrate surfaces in species of lizards that exploit different structural habitats (arboreal, saxicolous, terrestrial and arenicolous) in a phylogenetic context. Our main goals were to assess which processes drive variability in morphology (i.e. phylogeny or adaptation to habitat) in order to understand how substrate structure affects sprint speed in species occupying different habitats and to determine the relationship between morphology and performance. Liolaemini lizards show that most morphological traits are constrained by phylogeny, particularly toe 3, the femur and foot. All ecological groups showed significant differences on rocky surfaces. Surprisingly, no ecological group performed better on the surface resembling its own habitat. Moreover, all groups exhibited significant differences in sprint speed among the three different types of experimental substrates and showed the best performance on sand, with the exception of the arboreal group. Despite the fact that species use different types of habitats, the highly conservative morphology of Liolaemini species and the similar levels of performance on different types of substrates suggest that they confer to the ‘jack of all trades and master of none’ principle.
Recurrent Aphthous Stomatitis

Sir, In the paper "Screening for haematinic deficiencies in patients with recurrent aphthous stomatitis" (Australas J Dermatol 1986; 27:98) Bechet's disease was not mentioned. I think this condition is one of the very important causes of recurrent aphthous lesions''^. Second, to show iron deficiency anaemia it is not enough to have only serum iron, total iron binding capacity and percent saturation; but bone marrow examination for iron stores is also necessary. As for folate deficiency, it is necessary to examine bone marrow aspiration material for megaloblastic
Cascading Map-Side Joins over HBase for Scalable Join Processing

One of the major challenges in large-scale data processing with MapReduce is the smart computation of joins. Since Semantic Web datasets published in RDF have increased rapidly over the last few years, scalable join techniques become an important issue for SPARQL query processing as well. In this paper, we introduce the Map-Side Index Nested Loop Join (MAPSIN join) which combines scalable indexing capabilities of NoSQL storage systems like HBase, that suffer from an insufficient distributed processing layer, with MapReduce, which in turn does not provide appropriate storage structures for efficient large-scale join processing. While retaining the flexibility of commonly used reduce-side joins, we leverage the effectiveness of map-side joins without any changes to the underlying framework. We demonstrate the significant benefits of MAPSIN joins for the processing of SPARQL basic graph patterns on large RDF datasets by an evaluation with the LUBM and SP2Bench benchmarks. For most queries, MAPSIN join based query execution outperforms reduce-side join based execution by an order of magnitude.
Threshold Effects of Environmental Regulation on Total Factor EnergyEfficiency in China

This paper examines the threshold effects of environmental regulation on China's total factor energy efficiency (TFEE), by selecting the technological innovation (as measured by patents) as threshold variable. Using the SBM (Slacks- based Measure)-undesirable model, we first estimate TFEE of China's 30 provinces from 2000 to 2011 under the constraints of energy conservation and emission reduction, and then analyze the impact of environmental regulation on TFEE based on the panel threshold regression model. The results show that on the one hand the average level of China's TFEE from 2000 to 2011 is 0.503, which indicates that TFEE of China has a large room to improve. On the other hand, environmental regulation has threshold effects on TFEE. Only technological innovation level is between the first and second threshold value, can stringent environmental regulation improve TFEE. When technological innovation is under the first or over the second threshold value, intensifying environmental regulation would lower TFEE. The results prove that environmental regulation does not always enhance TFEE, and that the positive effect of environmental regulation on TFEE must be in the range of certain threshold value. In addition, improving technological innovation level and adjusting industrial structure have positive effect on TFEE, while the irrational energy consumption structure have negative effect on it.
Characterisation of a gene cluster involved in bacterial degradation of the cyanobacterial toxin microcystin LR

A novel pathway for degradation of the cyanobacterial heptapeptide hepatotoxin microcystin LR was identified in a newly isolated Sphingomonas sp. (Bourne et al. 1996 Appl. Environ. Microbiol. 62: 4086–4094). We now report the cloning and molecular characterisation of four genes from this Sphingomonas sp. that exist on a 5.8‐kb genomic fragment and encode the three hydrolytic enzymes involved in this pathway together with a putative oligopeptide transporter. The heterologously expressed degradation pathway proteins are enzymatically active. Microcystinase (MlrA), the first enzyme in the degradative pathway, is a 336‐residue endopeptidase, which displays only low sequence identity with a hypothetical protein from Methanobacterium thermoautotrophicum. Inhibition of microcystinase by EDTA and 1,10‐phenanthroline suggests that it is a metalloenzyme. The most likely residues that could potentially chelate an active‐site transition metal ion are in the sequence HXXHXE, which would be unique for a metalloproteinase. Situated immediately downstream of mlrA with the same direction of transcription is a gene mlrD, whose conceptual translation (MlrD, 442 residues) shows significant sequence identity and similar potential transmembrane spanning regions to the PTR2 family of oligopeptide transporters. A gene mlrB is situated downstream of the mlrA and mlrD genes, but transcribed in the opposite direction. The gene encodes the enzyme MlrB (402 residues) which cleaves linear microcystin LR to a tetrapeptide degradation product. This enzyme belongs to the “penicillin‐binding enzyme” family of active site serine hydrolases. The final gene in the cluster mlrC, is located upstream of the mlrA gene and is transcribed in the opposite direction. It codes for MlrC (507 residues) which mediates further peptidolytic degradation of the tetrapeptide. This protein shows significant sequence identity to a hypothetical protein from Streptomyces coelicolor. It is suspected to be a metallopeptidase based on inhibition by metal chelators. It is postulated on the basis of comparison with other microorganisms that the genes in this cluster may all be involved in cell wall peptidoglycan cycling and subsequently act fortuitously in hydrolysis of microcystin LR. © 2001 John Wiley & Sons, Inc. Environ Toxicol, 16: 523–534, 2001
Multicenter study of a rapid molecular-based assay for the diagnosis of group B Streptococcus colonization in pregnant women.

BACKGROUND Current prevention of infection due to group B Streptococcus (GBS) involves giving intrapartum antibiotics to women on the basis of either antenatal culture colonization status or presence of risk factors. METHODS We prospectively compared the performance characteristics of a rapid molecular diagnostic test (IDI-Strep B; Infectio Diagnostic) with culture for intrapartum GBS detection after 36 weeks' gestation in 5 North American centers during the period September 2001-May 2002. Antenatal GBS screening was done according to the usual practice of participating hospitals. Two combined vaginal/anal specimens were obtained from participants during labor by use of standard techniques and processed by the same laboratories that processed the antenatal specimens. Each swab sample was processed simultaneously by culture and with IDI-Strep B. The collected specimens were randomized for order of testing of the swab samples by culture or the rapid test. RESULTS Of enrolled women, 803 (91.1%) were eligible for analysis. The overall intrapartum GBS colonization rate by culture was 18.6% (range, 9.1%-28.7%). Compared with intrapartum culture, the molecular test had a sensitivity of 94.0% (range, 90.1%-97.8%), specificity of 95.9% (range, 94.3%-97.4%), positive predictive value of 83.8% (range, 78.2%-89.4%), and negative predictive value of 98.6% (range, 97.7%-99.5%). The molecular test was superior to antenatal cultures (sensitivity, 94% vs. 54%; P<.0001) and prediction of intrapartum status on the basis of risk factors (sensitivity, 94% vs. 42%; P<.0001). CONCLUSION Use of this test for determination of GBS colonization during labor is highly sensitive and specific and may lead to a further reduction in rates of neonatal GBS disease.
Proceedings of the International Workshop on Red Coral Science, Management, and Trade lessons from the Mediterranean, September 23-26, 2009, Naples, Italy

In this study, data gathered from several fields are presented in order to give an historical and actual picture of the status of the red coral resource in Sardinian seas. A review of historical data is provided and the first picture of spatial distribution and genetic structure of red coral populations in deep waters of Sardinian seas (below 80 meters) are illustrated. The historical analysis shows that no variation occurred in mean yields/boats in the last four centuries, suggesting that the amount of red coral in Sardinian seas is not decreased with time, differently from what observed in other parts of the Mediterranean. Analyses carried out from 2007 to 2008, through ROV surveys and samplings of entire colonies, highlight that the populations show dimensions (> 80% with maximum height > 6 cm) able to ensure the reproductive potential needed for their survival. Finally, strong genetic heterogeneity was measured between Sardinian samples and corals from other western Mediterranean localities (e.g. Corsica and Sicily). High level of genetic differentiation was found even among Sardinian samples, over different spatial scales from hundreds to less than 1 km. In conclusion, the strong genetic structuring found, confirms the need for management plans and conservation programs to be locally defined. Moreover, all historical, population structure and genetic data coherently indicate that the harvesting effort should not be increased, and the actual Sardinian management plan, enacted by the regional administration, seems to be effective in protecting the resource from overexploitation. However, the strict respect of this regulation is binding to ensure an optimal balance between harvesting and reproductive rate and hence allow the long term persistence of the species.
A Neuro-Mimetic Dynamic Scheduling Algorithm for Control: Analysis and Applications

A simple neuronal network model of the baroreceptor reflex is analyzed. From a control perspective, the analysis suggests a dynamic scheduled control mechanism by which the baroreflex may perform regulation of the blood pressure. The main objectives of this work are to investigate the static and dynamic response characteristics of the single neurons and the network, to analyze the neuromimetic dynamic scheduled control function of the model, and to apply the algorithm to nonlinear process control problems. The dynamic scheduling activity of the network is exploited in two control architectures. Control structure I is drawn directly from the present model of the baroreceptor reflex. An application of this structure for level control in a conical tank is described. Control structure II employs an explicit set point to determine the feedback error. The performance of this control structure is illustrated on a nonlinear continuous stirred tank reactor with van de Vusse kinetics. The two case studies validate the dynamic scheduled control approach for nonlinear process control applications.