Miracle-dz/UniFAR-FTUs huggingface dataset:
Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

Background— TGFBR2 mutations were recognized recently among patients with a Marfan-like phenotype. The associated clinical and prognostic spectra remain unclear. Methods and Results— Clinical features and outcomes of 71 patients with a TGFBR2 mutation (TGFBR2 group) were compared with 50 age- and sex-matched unaffected family members (control subjects) and 243 patients harboring FBN1 mutations (FBN1 group). Aortic dilatation was present in a similar proportion of patients in both the TGFBR2 and FBN1 groups (78% versus 79%, respectively) but was highly variable. The incidence and average age for thoracic aortic surgery (31% versus 27% and 35±16 versus 39±13 years, respectively) and aortic dissection (14% versus 10% and 38±12 versus 39±9 years) were also similar in the 2 groups. Mitral valve involvement (myxomatous, prolapse, mitral regurgitation) was less frequent in the TGFBR2 than in the FBN1 group (all P<0.05). Aortic dilatation, dissection, or sudden death was the index event leading to genetic diagnosis in 65% of families with TGFBR2 mutations, versus 32% with FBN1 mutations (P=0.002). The rate of death was greater in TGFBR2 families before diagnosis but similar once the disease had been recognized. Most pregnancies were uneventful (without death or aortic dissection) in both TGFBR2 and FBN1 families (38 of 39 versus 213 of 217; P=1). Seven patients (10%) with a TGFBR2 mutation fulfilled international criteria for Marfan syndrome, 3 of whom presented with features specific for Loeys-Dietz syndrome. Conclusions— Clinical outcomes appear similar between treated patients with TGFBR2 mutations and individuals with FBN1 mutations. Prognosis depends on clinical disease expression and treatment rather than simply the presence of a TGFBR2 gene mutation.
The effect of glucose on glutamine utilization by Ehrlich ascites tumor cells.

Intact Ehrlich ascites tumor cells were found to metabolize glutamine rapidly, with the formation of equivalent amounts of ammonia; 50–70 per cent of the glutamine utilized accumulated as glutamate, and 0.5 per cent as α-ketoglutarate. Glutamine did not stimulate oxygen uptake appreciably, and glutamate was slowly utilized by the cells. Glutamine uptake and glutamate formation were stimulated by inorganic phosphate, whereas glutamine uptake was inhibited by glutamate—which observation suggested that glutaminase I was present. The pH optimum was about 9. Keto acids exerted little effect on glutamine uptake under aerobic conditions. Glycolysis inhibited glutamine uptake as well as glutamate formation by intact cells by about 30–50 per cent. The percentage glucose inhibition was reduced upon increased phosphate concentration of the incubation medium. The glucose inhibition which appeared to affect glutaminase I is discussed in relation to the decreased pH and cellular phosphate concentration during glycolysis.
The thalamocortical and corticothalamic conections of AI, AII, and the anteriior auditory field (AFF) in the cat: Evidence ofr two largely sergregarted systems of connections

The thalamocortical and corticothalamic connections of the three cortical auditory fields—first (AI), second (AII), and anterior (AAF)—were defined using anterograde and retrograde tracing techniques. Microinjections of tracers were placed at one or two different physiologically identified loci after these fields had been mapped using microelectrode recording techniques. This approach ensured that the injections were well within the borders of each field that was studied. By making injections at different positions in the cochleotopic representations in A1 and AAF the systematic topographies of the connections between these cortical fields and the medial geniculate body subdivisions were determined.
Network controlled cell selection for the high speed downlink packet access in UMTS

An expanded effort is underway to support the evolution of the UMTS standard to meet the rapidly developing needs associated with wireless Internet applications. The support of high speed downlink packet access (HSDPA) is provided by means of a new, shared channel called high speed downlink shared channel (HS-DSCH) which is enabled by a number of performance enhancing technologies such as adaptive modulation and coding (AMC), hybrid ARQ (HARQ), fat-pipe scheduling, fast cell selection (FCS) and multiple input multiple output (MIMO) antenna techniques. In this paper, the advantage of FCS is investigated. To avoid the difficulty in HARQ transmission-state synchronization, FCS is allowed only among the cells (sectors) belonging to the same base station. Two FCS approaches are compared in this paper. The user controlled cell selection (UCCS) selects the serving cell based only on the channel quality seen by the user. While a new-network controlled cell selection (NCCS) approach jointly considers channel quality and network loading. It is shown that FCS significantly improves the HSDPA performance at low mobility. Among the FCS schemes, NCCS is superior to UCCS when the load among the cells in the active set is unbalanced.
Differences in brainstem level encoding of AM and FM signals in a rat model for dyslexia

Chabot, Stephen Anthony. M.S., Purdue University, December 2014 Differences in Brainstem Level Encoding of AM and FM Signals in a Rat Model for Dyslexia. Major Professor: Edward Bartlett. Developmental dyslexia is a language learning disorder that affects a significant portion of the population. Many subjects who suffer from dyslexia show auditory processing deficits as children, some of which persist into adulthood, which impair their ability to learn one or more aspects of language. There is evidence that some types of training can correct the auditory processing deficits and bring the subject to a normal reading or speaking proficiency for their age group. One common rodent model for dyslexia is the cortical freeze lesion model. This model induces a lesion in the rat cortex similar to the microgyria present in many dyslexic brains, as well as changes to the thalamus similar to those seen in human dyslexics. The goal of this study was to determine what effect, if any, did the cortical lesions have on brainstem level responses to simple sinusoidal amplitude or frequency modulated stimuli. The study showed reduced response strengths of lesioned rats to AM signals below a 1000 Hz amplitude modulation rate. In comparing recordings done under anesthetic to recordings done under sedation, the recordings under sedation showed no significant differences between sham and dyslexic rats under a 256 Hz modulation frequency, while the rats recorded under anesthetic showed differences down to 64 Hz modulation frequency. This would suggest
A Novel Quantitative Approach to Women’s Reproductive Strategies

The patterned way in which individuals allocate finite resources to various components of reproduction (e.g. mating effort, reproductive timing and parental investment) is described as a reproductive strategy. As energy is limited, trade-offs between and within aspects of reproductive strategies are expected. The first aim of this study was to derive aspects of reproductive strategies using complete reproductive histories from 718 parous Western Australian women. Factor analysis using a subset of these participants resulted in six factors that represented ‘short-term mating strategy’, ‘early onset of sexual activity’, ‘reproductive output’, ‘timing of childbearing’, ‘breastfeeding’, and ‘child spacing’. This factor structure was internally validated by replication using a second independent subset of the data. The second aim of this study examined trade-offs between aspects of reproductive strategies derived from aim one. Factor scores calculated for each woman were incorporated in generalised linear models and interaction terms were employed to examine the effect of mating behaviour on the relationships between reproductive timing, parental investment and overall reproductive success. Early sexual activity correlates with early reproductive onset for women displaying more long-term mating strategies. Women with more short-term mating strategies exhibit a trade-off between child quantity and child quality not observed in women with a long-term mating strategy. However, women with a short-term mating strategy who delay reproductive timing exhibit levels of parental investment (measured as breastfeeding duration per child) similar to that of women with long-term mating strategies. Reproductive delay has fitness costs (fewer births) for women displaying more short-term mating strategies. We provide empirical evidence that reproductive histories of contemporary women reflect aspects of reproductive strategies, and associations between these strategic elements, as predicted from life history theory.
SPARCL: An Improved Approach for Matching Sinhalese Words and Names in Record Clustering and Linkage

Quality of data residing in a database gets degraded and leads to misinterpretation due to a multitude of factors. Such factors vary from poor database design, lack of standards for recording database fields to typing mistakes (lexicographical errors, character transpositions). In such a case it is important to identify duplicates and merge them into a single entity. In doing so, one problem that arises is, the way in which string attributes are to be compared. Even though there are different methods in the literature that address the issue of approximate string matching, they all fall short in terms of accuracy when encountered with words from the Sinhalese language written in English. In this paper, it is intended to propose the development of an improved phonetic matching algorithm which improved the accuracy of approximate string matching remarkably. This modified algorithm outperforms the phonetic matching algorithms available in the literature, when applied on datasets containing Sinhalese names and words written in English. In addition, it demonstrates a computational time comparable with phonetic matching algorithms available in the literature. Thus, the modified algorithm which we name “SPARCL” outperforms other phonetic matching algorithms and is illustrated with a real life application.
Phosphoglycerate Kinase 2 (PGK2) Is Essential for Sperm Function and Male Fertility in Mice1

Abstract Phosphoglycerate kinase 2 (PGK2), an isozyme that catalyzes the first ATP-generating step in the glycolytic pathway, is encoded by an autosomal retrogene that is expressed only during spermatogenesis. It replaces the ubiquitously expressed phosphoglycerate kinase 1 (PGK1) isozyme following repression of Pgk1 transcription by meiotic sex chromosome inactivation during meiotic prophase and by postmeiotic sex chromatin during spermiogenesis. The targeted disruption of Pgk2 by homologous recombination eliminates PGK activity in sperm and severely impairs male fertility, but does not block spermatogenesis. Mating behavior, reproductive organ weights (testis, excurrent ducts, and seminal vesicles), testis histology, sperm counts, and sperm ultrastructure were indistinguishable between Pgk2−/− and wild-type mice. However, sperm motility and ATP levels were markedly reduced in males lacking PGK2. These defects in sperm function were slightly less severe than observed in males lacking glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), the isozyme that catalyzes the step preceding PGK2 in the sperm glycolytic pathway. Unlike Gapdhs−/− males, the Pgk2−/− males also sired occasional pups. Alternative pathways that bypass the PGK step of glycolysis exist. We determined that one of these bypass enzymes, acylphosphatase, is active in mouse sperm, perhaps contributing to phenotypic differences between mice lacking GAPDHS or PGK2. This study determined that PGK2 is not required for the completion of spermatogenesis, but is essential for sperm motility and male fertility. In addition to confirming the importance of the glycolytic pathway for sperm function, distinctive phenotypic characteristics of Pgk2−/− mice may provide further insights into the regulation of sperm metabolism.
Use of Ex Vivo Normothermic Perfusion for Quality Assessment of Discarded Human Donor Pancreases

A significant number of pancreases procured for transplantation are deemed unsuitable due to concerns about graft quality and the associated risk of complications. However, this decision is subjective and some declined grafts may be suitable for transplantation. Ex vivo normothermic perfusion (EVNP) prior to transplantation may allow a more objective assessment of graft quality and reduce discard rates. We report ex vivo normothermic perfusion of human pancreases procured but declined for transplantation, with ABO‐compatible warm oxygenated packed red blood cells for 1–2 h. Five declined human pancreases were assessed using this technique after a median cold ischemia time of 13 h 19 min. One pancreas, with cold ischemia over 30 h, did not appear viable and was excluded. In the remaining pancreases, blood flow and pH were maintained throughout perfusion. Insulin secretion was observed in all four pancreases, but was lowest in an older donation after cardiac death pancreas. Amylase levels were highest in a gland with significant fat infiltration. This is the first study to assess the perfusion, injury, as measured by amylase, and exocrine function of human pancreases using EVNP and demonstrates the feasibility of the approach, although further refinements are required.
How does an App Store / Market work ?

KURZFASSUNG Ein Application Store (App Store) ist ein internetbasiertes Vertriebssystem für Software, das vor allem durch die steigende Verbreitung von Smartphones und Tablet-PCs Beliebtheit erlangt. Es ermöglicht dem Anwender sein Gerät mit zusätzlichen Programmen (Apps) funktional zu erweitern. Die vorliegende Arbeit stellt einzelne Bestandteile des Systems ” App Store” vor und geht auf Fragestellungen und Konzepte hinter diesem System ein. Diese sind für die Implementation eines App Store wichtig, aber auch um die Komplexität eines solchen Systems zu verstehen. Außerdem wird auf Vertreter sowie deren Unterschiede und Gemeinsamkeiten eingegangen.
DSRED: A New Queue Management Scheme for the Next Generation Internet

SUMMARY Random Early Detection (RED), an active queue management scheme, has been recommended by the Internet Engineering Task Force (IETF) for the next generation routers. RED suffers from a number of performance problems, such as low throughput, large delay/jitter, and induces instability in networks. Many of the previous attempts to improve the performance of RED have been based on optimizing the values of the RED parameters. However, results have shown that such optimizations resulted in limited improvement in the performance. In this paper, we propose Double Slope RED (DSRED), a new active queue management scheme to improve the performance of RED. The proposed scheme is based on dynamically changing the slope of the packet drop probability curve as a function of the level of congestion in the buffer. Results show
Synaptotagmin VII Regulates Ca2+-Dependent Exocytosis of Lysosomes in Fibroblasts

Synaptotagmins (Syts) are transmembrane proteins with two Ca2+-binding C2 domains in their cytosolic region. Syt I, the most widely studied isoform, has been proposed to function as a Ca2+ sensor in synaptic vesicle exocytosis. Several of the twelve known Syts are expressed primarily in brain, while a few are ubiquitous (Sudhof, T.C., and J. Rizo. 1996. Neuron. 17: 379–388; Butz, S., R. Fernandez-Chacon, F. Schmitz, R. Jahn, and T.C. Sudhof. 1999. J. Biol. Chem. 274:18290–18296). The ubiquitously expressed Syt VII binds syntaxin at free Ca2+ concentrations ([Ca2+]) below 10 μM, whereas other isoforms require 200–500 μM [Ca2+] or show no Ca2+-dependent syntaxin binding (Li, C., B. Ullrich, Z. Zhang, R.G.W. Anderson, N. Brose, and T.C. Sudhof. 1995. Nature. 375:594–599). We investigated the involvement of Syt VII in the exocytosis of lysosomes, which is triggered in several cell types at 1–5 μM [Ca2+] (Rodríguez, A., P. Webster, J. Ortego, and N.W. Andrews. 1997. J. Cell Biol. 137:93–104). Here, we show that Syt VII is localized on dense lysosomes in normal rat kidney (NRK) fibroblasts, and that GFP-tagged Syt VII is targeted to lysosomes after transfection. Recombinant fragments containing the C2A domain of Syt VII inhibit Ca2+-triggered secretion of β-hexosaminidase and surface translocation of Lgp120, whereas the C2A domain of the neuronal- specific isoform, Syt I, has no effect. Antibodies against the Syt VII C2A domain are also inhibitory in both assays, indicating that Syt VII plays a key role in the regulation of Ca2+-dependent lysosome exocytosis.
Endocytosis of Receptor Tyrosine Kinases Is Driven by Monoubiquitylation, Not Polyubiquitylation*

Growth factors stimulate specific receptor tyrosine kinases, but subsequent receptor endocytosis terminates signaling. The ubiquitin ligase c-Cbl targets epidermal growth factor receptors (EGFRs) to endocytosis by tagging them with multiple ubiquitin molecules. However, the type of ubiquitylation is unknown; whereas polyubiquitin chains signal proteasomal degradation, ubiquitin monomers control other processes. We report that in isolation c-Cbl mediates monoubiquitylation rather than polyubiquitylation of EGFRs. Consistent with the sufficiency of monoubiquitylation, when fused to the tail of EGFR, a single ubiquitin induces receptor endocytosis and degradation in cells. By using receptor and ubiquitin mutants, we infer that c-Cbl attaches a founder monoubiquitin to the kinase domain of EGFR and this is complemented by the conjugation of additional monoubiquitins. Hence, receptor tyrosine kinases are desensitized through conjugation of multiple monoubiquitins, which is distinct from polyubiquitin-dependent proteasomal degradation.
Design and finite element analysis on a novel PMSM with anti-rotation dual rotor

A novel PMSM with Anti-rotation Dual rotor is proposed in order to improve operation performance of underwater vehicle anti-rotation propulsion system, It can be substantially simplify system structure, decrease volume, reduce mass and cost, moreover, improve reliability without brush and slip-ring. After the principles of operation, configurations, and features are discussed, Design methodology is given. Both the equivalent magnetic circuit method and Finite Element Analysis are adopted to analyse the electromagnetic coupling of the machine. The Finite Element Analysis indicates that in good agreement with the equivalent magnetic circuit method, which verifies the feasibility of the proposed.
De Novo Transcriptome Assembly and Analyses of Gene Expression during Photomorphogenesis in Diploid Wheat Triticum monococcum

Background Triticum monococcum (2n) is a close ancestor of T. urartu, the A-genome progenitor of cultivated hexaploid wheat, and is therefore a useful model for the study of components regulating photomorphogenesis in diploid wheat. In order to develop genetic and genomic resources for such a study, we constructed genome-wide transcriptomes of two Triticum monococcum subspecies, the wild winter wheat T. monococcum ssp. aegilopoides (accession G3116) and the domesticated spring wheat T. monococcum ssp. monococcum (accession DV92) by generating de novo assemblies of RNA-Seq data derived from both etiolated and green seedlings. Principal Findings The de novo transcriptome assemblies of DV92 and G3116 represent 120,911 and 117,969 transcripts, respectively. We successfully mapped ∼90% of these transcripts from each accession to barley and ∼95% of the transcripts to T. urartu genomes. However, only ∼77% transcripts mapped to the annotated barley genes and ∼85% transcripts mapped to the annotated T. urartu genes. Differential gene expression analyses revealed 22% more light up-regulated and 35% more light down-regulated transcripts in the G3116 transcriptome compared to DV92. The DV92 and G3116 mRNA sequence reads aligned against the reference barley genome led to the identification of ∼500,000 single nucleotide polymorphism (SNP) and ∼22,000 simple sequence repeat (SSR) sites. Conclusions De novo transcriptome assemblies of two accessions of the diploid wheat T. monococcum provide new empirical transcriptome references for improving Triticeae genome annotations, and insights into transcriptional programming during photomorphogenesis. The SNP and SSR sites identified in our analysis provide additional resources for the development of molecular markers.
Mating between two hybridizing species,
 Viviparus ater
 and
 V.contectus
 (Mollusca: Prosobranchia)

Abstract The aquatic snailsViviparus aterandV. contectusare sympatric in several places in southern Europe; they differ morphologically, karyotypically and in their life-history traits. Previous work has shown weak introgression of allozyme markers associated with high heterospecific mating rates in a natural population at Lazise in Lake Garda, northern Italy. Snails were kept in small artificial ponds with equal numbers of males and females of both species, and rates of assortative mating, species-specific mating propensities, and the relative frequencies of the reciprocal heterospecific mating pairs (V. atermales×V. contectusfemales andV. contectusmales×V. aterfemales) were determined. Randomization tests were used to control statistically for problems inherent in many assortative mating experiments. The extent of assortative mating under relative densities of 50V. ater:1V. contectus, which is closer to the natural condition at Lazise, was also determined. Heterospecific matings occurred at a rate of 10·9% at relative densities of 1:1, significantly different from random mating. The heterospecific mating rate ofV. contectuswas much higher (75%) when it was at low density.Viviparus contectusfemales had significantly higher mating propensities than didV. aterfemales. In contrast to field data, the relative frequencies of the reciprocal heterospecific mating pairs were similar in the experiments, suggesting that factors other than mate choice may be responsible for the higher frequency ofV. atermales×V. contectusfemales in the field. Assortative mating inViviparuscomprises an insignificant barrier to introgression even in conjunction with the low fitness of hybrids, especially where the relative population densities in the species differ.
Memory‐Efficient Interactive Online Reconstruction From Depth Image Streams

We describe how the pipeline for 3D online reconstruction using commodity depth and image scanning hardware can be made scalable for large spatial extents and high scanning resolutions. Our modified pipeline requires less than 10% of the memory that is required by previous approaches at similar speed and resolution. To achieve this, we avoid storing a 3D distance field and weight map during online scene reconstruction. Instead, surface samples are binned into a high‐resolution binary voxel grid. This grid is used in combination with caching and deferred processing of depth images to reconstruct the scene geometry. For pose estimation, GPU ray‐casting is performed on the binary voxel grid. A one‐to‐one comparison to level‐set ray‐casting in a distance volume indicates slightly lower pose accuracy. To enable unlimited spatial extents and store acquired samples at the appropriate level of detail, we combine a hash map with a hierarchical tree representation.