Miracle-dz/UniFAR-FTUs huggingface dataset:
A novel mutation affecting the arginine‐137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin‐2

Mutations in the vasopressin V2 receptor gene AVPR2 may cause X‐linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin‐2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome of inappropriate antidiuresis or congenital X‐linked nephrogenic diabetes insipidus. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. Nephrogenic diabetes insipidus was demonstrated by water deprivation test and resistance to vasopressin administration. While a similar urine exosome release rate was shown between probands and controls by western blotting for the marker ALIX, there was a selective decrease in exosome aquaporin‐2 versus aquaporin‐1 protein in probands compared to controls.
Outbreak of enteric microsporidiosis of hatchery-bred juvenile groupers, Epinephelus spp., associated with a new intranuclear microporidian in China.

A new enteric microsporidian was found to be associated with the mass mortality of hatchery-bred juvenile groupers, Epinephelus spp. , in China. The outbreak usually occurred during the rainy season between May and November when water temperature ranged from 26 to 30 °C and salinity from 28 to 34 ppt, although this microsporidian can be detected year round. External clinical signs included severe emaciation, white faeces syndrome, anorexia, sinking to the bottom of culture ponds and mass mortality (up to 90%). Upon necropsy, severe intestinal oedema and thin and transparent intestinal wall could be observed. The mature spores are tiny, measuring 1.3-1.5 (1.35 ± 0.13) × 1.6-2.4 (2.16 ± 0.31) μm and can be found in the cytoplasm and the nucleoplasm of most enteric epithelial cells of host. Epidemiological investigation showed that this species was distributed throughout most of the culture area of grouper fingerlings in Fujian, Guangdong, Hainan and Guangxi provinces in China, with maximum prevalence of 95%. Molecular analysis based on the partial small subunit rRNA sequence (1045 bp) placed this species within the Enterocytozoonidae, but sequence identities to other species were below 90%. The exact taxonomic position warrants study of the ultrastructural characteristics of the developmental stages.
Climatic, reservoir and occupational variables and the transmission of haemorrhagic fever with renal syndrome in China.

BACKGROUND Being a zoonosis, the transmission of haemorrhagic fever with renal syndrome (HFRS) is influenced by climatic, reservoir and occupational factors. This paper has quantified the incidence and potential risk factors of HFRS in Yingshang County, a low-lying epidemic focus of the disease in China. METHODS Correlation and regression analyses were conducted among climatic variables, the density of mice, autumn crop production and annual incidence of HFRS during the autumn-winter seasons in the County over the period 1980-1996. RESULTS Rainfall (r = -0.63, P = 0.009), the density of mice (r = 0.90, P = 0.000) and autumn crop production (r = 0.67, P = 0.01) were statistically correlated with the incidence of HFRS. Multiple regression analysis indicated that these factors are potential predictors for HFRS transmission. CONCLUSIONS Rainfall, the density of mice and autumn crop production could be used as predictors of HFRS transmission in low-lying epidemic foci.
Pansharpening of Multispectral Images Based on Nonlocal Parameter Optimization

High-quality pansharpened multispectral (MS) images are rarely obtained from fast, efficient, and robust algorithms. In most cases, effective pansharpening methods have huge computational complexity, as in the case of variational methods, or algorithms based on sparse representations. Moreover, injection models are often application dependent, not sufficiently general to be applied to different scenarios, and the resulting algorithm implementations cannot process large-size images. The proposed pansharpening method is accurate and fast and can be successfully applied to huge images. It also solves the problem of contextadaptive schemes that tune the spatial injection parameters on local statistics: Instabilities and blocky artifacts can be generated by pansharpening methods whose parameters are computed on local windows. The proposed method is an extension of the classical component-substitution algorithms: An optimal detail image (in the mmse sense) extracted from the panchromatic band is calculated for each MS band by evaluating band-dependent generalized intensities. It overcomes window-based local estimation of parameters by applying a nonlocal parameter optimization through K-means clustering. Very high quality scores, both at degraded and full scale, and excellent visual quality of the fused images demonstrate the validity of the method.
Online self-calibration for robotic systems

We present a generic algorithm for self-calibration of robotic systems that utilizes two key innovations. First, it uses an information-theoretic measure to automatically identify and store novel measurement sequences. This keeps the computation tractable by discarding redundant information and allows the system to build a sparse but complete calibration dataset from data collected at different times. Second, as the full observability of the calibration parameters may not be guaranteed for an arbitrary measurement sequence, the algorithm detects and locks unobservable directions in parameter space using a combination of rank-revealing QR and singular value decompositions of the Fisher information matrix. The result is an algorithm that listens to an incoming sensor stream, builds a minimal set of data for estimating the calibration parameters, and updates parameters as they become observable, leaving the others locked at their initial guess. We validate our approach through an extensive set of simulated and real-world experiments.
Diagnosis and Treatment of AA Amyloidosis with Rheumatoid Arthritis: State of the Art

Amyloidosis is a term applied to a heterogeneous group of rare diseases characterized by extracellular deposition of amyloid, causing target-organ dysfunction and a wide range of clinical symptoms [1]. These symptoms depend on the organ involved, and include nephrotic syndrome, hepatosplenomegaly, congestive heart failure, carpal tunnel syndrome, gastrointestinal (GI) symptoms and macroglossia [2]. Amyloidosis is clinically classified into several types depending on the precursor of the amyloid fibril. The disease involves amyloid fibrils formed in vivo by 27 different types of protein [3] (Table 1). Reactive amyloid A (AA) amyloidosis is the representative systemic condition that develops in patients with chronic inflammatory diseases such as rheumatoid arthritis (RA), juvenile idiopathic arthritis, ankylosing spondylitis, inflammatory bowel disease, familial periodic fever syndrome, and chronic infections [4,5,6,7]. In some parts of the world, heredofamilial causes and infections are responsible for a larger proportion of cases of AA amyloidosis. In Turkey, familial Mediterranean fever (FMF) is the cause of more than 60 percent of cases [8]. Other conditions that may be associated with AA amyloidosis include neoplasms, particularly renal cell carcinoma [9], non-Hodgkin lymphoma [10], Castleman's disease [11], and cystic fibrosis [12]. Recently, therapy with biologic agents including anti-tumor necrosis factor (anti-TNF) and anti-interleukin-6 (IL-6) is now employed routinely for the management of RA in patients for whom traditional disease-modifying anti-rheumatic drugs (DMARDs) have failed. In parallel with this shift of treatment strategy, the treatment of amyloidosis has also changed. This article discusses current concepts of AA amyloidosis that is mainly secondary to RA, and addresses various strategies for prophylaxis, diagnosis, and therapy of this important complication in the light of changes in clinical management, especially hemodialysis (HD).
PCR Primers for Metazoan Nuclear 18S and 28S Ribosomal DNA Sequences

Background Metagenetic analyses, which amplify and sequence target marker DNA regions from environmental samples, are increasingly employed to assess the biodiversity of communities of small organisms. Using this approach, our understanding of microbial diversity has expanded greatly. In contrast, only a few studies using this approach to characterize metazoan diversity have been reported, despite the fact that many metazoan species are small and difficult to identify or are undescribed. One of the reasons for this discrepancy is the availability of universal primers for the target taxa. In microbial studies, analysis of the 16S ribosomal DNA is standard. In contrast, the best gene for metazoan metagenetics is less clear. In the present study, we have designed primers that amplify the nuclear 18S and 28S ribosomal DNA sequences of most metazoan species with the goal of providing effective approaches for metagenetic analyses of metazoan diversity in environmental samples, with a particular emphasis on marine biodiversity. Methodology/Principal Findings Conserved regions suitable for designing PCR primers were identified using 14,503 and 1,072 metazoan sequences of the nuclear 18S and 28S rDNA regions, respectively. The sequence similarity of both these newly designed and the previously reported primers to the target regions of these primers were compared for each phylum to determine the expected amplification efficacy. The nucleotide diversity of the flanking regions of the primers was also estimated for genera or higher taxonomic groups of 11 phyla to determine the variable regions within the genes. Conclusions/Significance The identified nuclear ribosomal DNA primers (five primer pairs for 18S and eleven for 28S) and the results of the nucleotide diversity analyses provide options for primer combinations for metazoan metagenetic analyses. Additionally, advantages and disadvantages of not only the 18S and 28S ribosomal DNA, but also other marker regions as targets for metazoan metagenetic analyses, are discussed.
Differences between Caucasian, African American, and Hispanic patients with primary biliary cirrhosis in the United States

Primary biliary cirrhosis (PBC) is an uncommon chronic cholestatic liver disease that primarily afflicts young and middle‐aged Caucasian women; there are limited data on the clinical presentation and disease severity among non‐Caucasian patients with this disease. The goal of this study was to examine differences in the severity of liver disease between Caucasian and non‐Caucasian patients with PBC screened for enrollment in a large national multicenter clinical trial. Demographic features, symptoms, physical findings, and laboratory tests obtained during screening were examined in 535 patients with PBC with respect to ethnicity, gender, and antimitochondrial antibody (AMA) status; 73 of 535 (13.6%) were non‐Caucasian (21 were African American, and 42 were Hispanic). Non‐Caucasians were more likely than Caucasians to be ineligible for participation in the clinical trial (46.5% versus 25.1%, P = 0.0001), primarily because of greater disease severity. African Americans and Hispanics were also more likely to have a lower activity level, more severe pruritus, and more advanced disease. However, the mean age, male‐to‐female ratio, and seroprevalence of AMA positivity were similar between the 2 groups. Conclusion: Liver disease severity at clinical presentation is higher among non‐Caucasians than Caucasians with PBC, and this cannot be explained by demographic or serologic features alone. Possible mechanisms underlying this health discrepancy are not clear, but increased awareness of PBC as a cause of chronic cholestatic liver disease is critical in evaluating non‐Caucasian patients in the United States. (HEPATOLOGY 2007.)
In vitro activity of trovafloxacin against Chlamydia pneumoniae

The in vitro susceptibilities of 12 strains of Chlamydia pneumoniae to a new quinolone, trovafloxacin, and ofloxacin, doxycycline, erythromycin, and azithromycin were determined. The activity of trovafloxacin was similar to that of ofloxacin, with a MIC at which 90% of the isolates are inhibited and a minimal concentration at which 90% of the isolates are killed of 1.0 microg/ml, but trovafloxacin was less active than doxycycline, erythromycin, and azithromycin.
A simplex algorithm whose average number of steps is bounded between two quadratic functions of the smaller dimension

It has been a challenge for mathematicians to confirm theoretically the extremely good performance of simplex-type algorithms for linear programming. In this paper the average number of steps performed by a simplex algorithm, the so-called <italic>self-dual method</italic>, is analyzed. The algorithm is not started at the traditional point (1, … , l)<supscrpt>T</supscrpt>, but points of the form (1, ε, ε<supscrpt>2</supscrpt>, …)<supscrpt>T</supscrpt>, with ε sufficiently small, are used. The result is better, in two respects, than those of the previous analyses. First, it is shown that the expected number of steps is bounded between two quadratic functions <italic>c</italic><subscrpt>1</subscrpt>(min(<italic>m</italic>, <italic>n</italic>))<supscrpt>2</supscrpt> and <italic>c</italic>2(min(<italic>m</italic>, <italic>n</italic>))<supscrpt>2</supscrpt> of the <italic>smaller</italic> dimension of the problem. This should be compared with the previous two major results in the field. Borgwardt proves an upper bound of <italic>O</italic>(<italic>n</italic><supscrpt>4</supscrpt><italic>m</italic><supscrpt>1/(<italic>n</italic>-1)</supscrpt>) under a model that implies that the zero vector satisfies all the constraints, and also the algorithm under his consideration solves only problems from that particular subclass. Smale analyzes the self-dual algorithm starting at (1, … , 1)<supscrpt>T</supscrpt>. He shows that for any fixed <italic>m</italic> there is a constant <italic>c</italic>(<italic>m</italic>) such the expected number of steps is less than <italic>c</italic>(<italic>m</italic>)(ln <italic>n</italic>)<italic><supscrpt>m</italic>(<italic>m</italic>+1)</supscrpt>; Megiddo has shown that, under Smale's model, an upper bound <italic>C</italic>(<italic>m</italic>) exists. Thus, for the first time, a polynomial upper bound with no restrictions (except for nondegeneracy) on the problem is proved, and, for the first time, a nontrivial lower bound of precisely the same order of magnitude is established. Both Borgwardt and Smale require the input vectors to be drawn from spherically symmetric distributions. In the model in this paper, invariance is required only under certain
Value Relevance of Financial and Non Financial Information in Emerging Industries: The Changing Role of Web Traffic Data

The value relevance of financial and non-financial information is viewed in light of the theory of life-cycle stages. The study tests the evolving role of common financial statement and web traffic metrics for Internet companies. Previous work has reported that web usage measures are of high value relevance, or offer much greater explanatory power than conventional financial accounting information for market values. We do find that conventional financial data, including gross profit and realized growth rates in sales and in gross profit, are value relevant, but to a lower extent than web traffic data. As the industry matures, however, we would expect these relationships to change. Indeed we find that gross profit and R&D become increasingly value relevant as indicated by time trends. Importantly, there is a clear negative time trend in the eyeball measures. Hence, although still of high importance, the value relevance of non-financial metrics has materially diminished over the 24 months testing period. Accounts for the change in market sentiment during the testing period does not change this finding. The results confirm the view that different value metrics should be used at different stages of the life of an industry. Testing whether the life-cycle theory is anchored more to the maturity of the industry or to that of the individual company, we find the value relevance of non-financial vis-a-vis financial measures to be tied only to the maturity of the sector as a whole.
The Durham/UKST Galaxy Redshift Survey — VI. Power spectrum analysis of clustering

We present the power spectrum analysis of clustering in the Durham/UKST Galaxy Redshift Survey. The Survey covers 1450 square degrees and consists of 2501 galaxy redshifts. The galaxies are sampled at a rate of 1 in 3 down to a magnitude limit of bJ � 17 from COSMOS scanned UK-Schmidt plates. Our measurement of the power spectrum is robust for wavenumbers in the range 0.04 hMpc 1 � k � 0.6hMpc 1 . The slope of the power spectrum for k > 0.1hMpc 1 is close to k 2 . The fluctuations in the galaxy distribution can be expressed as the rms variance in the number of galaxies in spheres of radius 8 h 1 Mpc as �8 = 1.01±0.17. We find remarkably good agreement between the power spectrum measured for the Durham/UKST Survey and those obtained from other optical studies on scales up to � = 2�/k � 80h 1 Mpc. On scales larger than this we find good agreement with the power measured from the Stromlo-APM Survey (Tadros & Efstathiou), but find more power than estimated from the Las Campanas Redshift Survey (Lin et al). The Durham/UKST Survey power spectrum has a higher amplitude than the power spectrum of IRAS galaxies on large scales, implying a relative bias between optically and infra-red selected samples of brel = 1.3. We apply a simple model for the distortion of the pattern of clustering caused by the peculiar motions of galaxies to the APM Galaxy Survey power spectrum, which is free from such effects, and find a shape and amplitude that is in very good agreement with the power spectrum of the Durham/UKST Survey. This implies � = 0.6 /b = 0.60 ± 0.35, where b is the bias between fluctuations in the galaxy and mass distributions, and also suggests a one dimensional velocity dispersion of � = 320 ± 140kms 1 . We compare the Durham/UKST power spectrum with Cold Dark Matter models of structure formation, including the effects of nonlinear growth of the density fluctuations and redshift-space distortions on the theoretical power spectra. We find that for any choice of normalisation, the standard CDM model has a shape that cannot be reconciled with the Durham/UKST Survey power spectrum, unless either unacceptably high values of the one dimensional velocity dispersion are adopted or the assumption that bias is constant is invalid on scales greater than 20h 1 Mpc. Over the range of wavenumbers for which we have a robust measurement of the power spectrum, we find the best agreement is obtained for a critical density CDM model in which the shape of the power spectrum is modified.
Vibrating Quantum Billiards on Riemannian Manifolds

Quantum billiards provide an excellent forum for the analysis of quantum chaos. Toward this end, we consider quantum billiards with time-varying surfaces, which provide an important example of quantum chaos that does not require the semiclassical (ℏ → 0) or high quantum-number limits. We analyze vibrating quantum billiards using the framework of Riemannian geometry. First, we derive a theorem detailing necessary conditions for the existence of chaos in vibrating quantum billiards on Riemannian manifolds. Numerical observations suggest that these conditions are also sufficient. We prove the aforementioned theorem in full generality for one degree-of-freedom boundary vibrations and briefly discuss a generalization to billiards with two or more degrees-of-vibrations. The requisite conditions are direct consequences of the separability of the Helmholtz equation in a given orthogonal coordinate frame, and they arise from orthogonality relations satisfied by solutions of the Helmholtz equation. We then state and prove a second theorem that provides a general form for the coupled ordinary differential equations that describe quantum billiards with one degree-of-vibration boundaries. This set of equations may be used to illustrate KAM theory and also provides a simple example of semiquantum chaos. Moreover, vibrating quantum billiards may be used as models for quantum-well nanostructures, so this study has both theoretical and practical applications.
Algorithms Today: Notes on Language Design for Just in Time Programming

Modifying the code of a program at runtime has been made possible by quite a number of programming languages, Be it for allowing different development and prototyping methods, or be it for performative code improvisation (live coding 1), these languages have gained a wider use in algorithmic sound synthesis. 2 Consequently, the temporal delimitation between development (preparation) and application (action) has become less rigid-even more, instead of making only the parameters of an application accessible, its source code can be modifi ed at runtime. It is this more immediate interrelation between changes in the code and changes in the sound that brings the text of the computer language into play more evidently as a direct description of sound. This article presents an overview of such a system implemented in a dynamic programming language and discusses some implications and problems of this approach. It concludes with examples of interactive programming in sonifi cation research, in fi lm sound and music performance, areas where this approach is used with interesting results.
Insights from the Genome Annotation of Elizabethkingia anophelis from the Malaria Vector Anopheles gambiae

Elizabethkingia anophelis is a dominant bacterial species in the gut ecosystem of the malaria vector mosquito Anopheles gambiae. We recently sequenced the genomes of two strains of E. anophelis, R26T and Ag1, isolated from different strains of A. gambiae. The two bacterial strains are identical with a few exceptions. Phylogenetically, Elizabethkingia is closer to Chryseobacterium and Riemerella than to Flavobacterium. In line with other Bacteroidetes known to utilize various polymers in their ecological niches, the E. anophelis genome contains numerous TonB dependent transporters with various substrate specificities. In addition, several genes belonging to the polysaccharide utilization system and the glycoside hydrolase family were identified that could potentially be of benefit for the mosquito carbohydrate metabolism. In agreement with previous reports of broad antibiotic resistance in E. anophelis, a large number of genes encoding efflux pumps and β-lactamases are present in the genome. The component genes of resistance-nodulation-division type efflux pumps were found to be syntenic and conserved in different taxa of Bacteroidetes. The bacterium also displays hemolytic activity and encodes several hemolysins that may participate in the digestion of erythrocytes in the mosquito gut. At the same time, the OxyR regulon and antioxidant genes could provide defense against the oxidative stress that is associated with blood digestion. The genome annotation and comparative genomic analysis revealed functional characteristics associated with the symbiotic relationship with the mosquito host.