Miracle-dz/UniFAR-FTUs huggingface dataset:
Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus

Background: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani family with consanguinity and a mutation in the LCA5 gene. Methods: 13 family members including five affected individuals consented to DNA analysis and ocular examination including fundal photography. Results: Ocular abnormalities are described. The most striking feature was the progression of macula abnormalities in three brothers resulting in a colobomatous appearance in the eldest compared to only mild atrophy in the youngest. The phenotypic pattern of this mutation in this Pakistani family contrasts with the “Old Order River Brethren” who were of Swiss descent, in whom the mutation was first described. Conclusion: The evolution of a new phenotypic picture is presented to a mutation in LCA5.
The effects of citric acid on phytate-phosphorus utilization in young chicks and pigs.

Several bioassays were conducted with young chicks and pigs fed phosphorus (P)-deficient corn-soybean meal diets. With diets for chicks containing . 62% Ca and . 42% P (.10% available P), graded doses of a citric acid + sodium citrate (1:1, wt:wt) mixture (0, 1, 2, 4, or 6% of diet) resulted in linear (P < .01) increases in both weight gain and tibia ash. Relative to chicks fed no citric acid, tibia ash (%) and weight gain (g/d) were increased by 43 and 22%, respectively, in chicks fed 6% citric acid. Additional chick trials showed that 6% citric acid alone or sodium citrate alone was as efficacious as the citric acid + sodium citrate mixture and that 1,450 U/kg of phytase produced a positive response in bone ash and weight gain in chicks fed a diet containing 6% citrate. Varying the Ca:available P ratio with and without citrate supplementation indicated that citric acid primarily affected phytate-P utilization, not Ca, in chicks. Moreover, chicks did not respond to citrate supplementation when fed a P-deficient (.13% available P), phytate-free casein-dextrose diet. Young pigs averaging 10 to 11 kg also were used to evaluate citric acid efficacy in two experiments. A P-deficient corn-soybean meal basal diet was used to construct five treatment diets that contained 1) no additive, 2) 3% citric acid, 3) 6% citric acid, 4) 1,450 U/kg phytase, and 5) 6% citric acid + 1,450 U/kg phytase. Phytase supplementation increased (P < .01) weight gain, gain:feed, and metatarsal ash, whereas citric acid addition increased only gain:feed (P < .05) and metatarsal ash (P < .08). A subsequent 22-d pig experiment was conducted to evaluate the effect of lower levels of citric acid (0, 1, 2, or 3%) or 1,450 U/kg phytase addition to a P-deficient corn-soybean meal diet. Phytase supplementation improved (P < .01) all criteria measured. Weight gain and gain:feed data suggested a response to citric acid addition, but this was not supported by fibula ash results (P > .10). The positive responses to phytase were much greater than those to citric acid in both pig experiments. Thus, dietary citric acid effectively improved phytate P utilization in chicks but had a much smaller effect in pigs.
Role of muscarinic receptor antagonists in urgency and nocturia

The overactive bladder (OAB) syndrome is defined as urgency, with or without urgency incontinence, usually accompanied by frequency and nocturia. Muscarinic receptor antagonists are the most established form of treatment for OAB, but until recently their effectiveness was only confirmed for symptoms of incontinence and frequency. In recent studies, selected muscarinic antagonists, including darifenacin, solifenacin, tolterodine and trospium, significantly reduced the number of urgency episodes per day relative to placebo. While some data raise the possibility that certain of these agents may be more effective than others in this regard, this variability in their effect on urgency needs to be confirmed in future studies. Moreover, it remains to be determined whether counting the number of urgency episodes or assessing the subjective intensity of the sensation of urgency more adequately reflects patient needs and therapeutic efficacy. For nocturia, muscarinic receptor antagonists have only inconsistently shown statistically greater effects than placebo. This inconsistency may relate to the multifactorial nature of nocturia, which even in patients with OAB can have many causes, not all of which may respond/be sensitive to muscarinic receptor antagonism.
DiFS: Distributed Flow Scheduling for Data Center Networks

Data center networks leverage multiple parallel paths connecting end host pairs to offer high bisection band width for cluster computing applications. However, state of the a rt distributed multi-pathing protocols such as Equal Cost Multipath (ECMP) use static flow-to-link assignment, which is loadoblivious. They may cause bandwidth loss due to flow collisionson a same link. Recently proposed centralized scheduling algo rithm or host-based multi-pathing may suffer from scalability problems. In this paper, we present Distributed Flow Scheduling (DiFS) for data center networks, which is a switch-only distributed solution. DiFS allows switches cooperate to avoid over-utilized links and find available paths without centralized control. DiFS is scalable and can react quickly to dynamic traffic, becauseit is independently executed on switches and requires no synch ronization. Extensive experiments show that the aggregate bi section bandwidth of DiFS using various traffic patterns is much better than that of ECMP, and is similar to or higher than that of a recent proposed centralized scheduling algorithm.
Electrical Maxwell Demon and Szilard Engine Utilizing Johnson Noise, Measurement, Logic and Control

We introduce a purely electrical version of Maxwell's demon which does not involve mechanically moving parts such as trapdoors, etc. It consists of a capacitor, resistors, amplifiers, logic circuitry and electronically controlled switches and uses thermal noise in resistors (Johnson noise) to pump heat. The only types of energy of importance in this demon are electrical energy and heat. We also demonstrate an entirely electrical version of Szilard's engine, i.e., an information-controlled device that can produce work by employing thermal fluctuations. The only moving part is a piston that executes work, and the engine has purely electronic controls and it is free of the major weakness of the original Szilard engine in not requiring removal and repositioning the piston at the end of the cycle. For both devices, the energy dissipation in the memory and other binary informatics components are insignificant compared to the exponentially large energy dissipation in the analog part responsible for creating new information by measurement and decision. This result contradicts the view that the energy dissipation in the memory during erasure is the most essential dissipation process in a demon. Nevertheless the dissipation in the memory and information processing parts is sufficient to secure the Second Law of Thermodynamics.
Effects of short-term training on insulin sensitivity and skeletal muscle glucose metabolism in standardbred horses.

REASONS FOR PERFORMING STUDY Increased insulin sensitivity occurs after a period of exercise training, but the mechanisms underlying this training-associated increase in insulin action have not been investigated. OBJECTIVE To examine the effects of short-term endurance training (7 consecutive days) and a subsequent period of inactivity (5 days) on whole body insulin sensitivity and GLUT-4 protein and the activities of glycogen synthase (GS) and hexokinase (HK) in skeletal muscle. It was hypothesised that training would increase insulin sensitivity in association with increased GLUT-4 protein and activities of GS and HK, but that these changes would be transient, returning to baseline after 5 days of inactivity. METHODS Seven mature Standardbred horses completed training consisting of 7 consecutive days of 45 min of treadmill exercise at a speed that elicited 55% of pretraining maximal aerobic capacity (VO2peak). Insulin sensitivity was determined by rate of glucose disposal (M) during the last 60 min of a 120 min euglycaemic-hyperinsulinaemic clamp (EHC) performed before (-2 days) and at 1 and 6 days following training. VO2peak was measured before (UT) and after (TR) training and the period of inactivity (IA). RESULTS Training resulted in a 9% increase in mean VO2peak (P<0.05) that was maintained following inactivity (IA). Mean M values were more than 2-fold higher (P<0.05) in TR than in UT. Mean M was also higher (P<0.05) in IA when compared to UT. GLUT-4 protien abundancewas more than 10-fold higher in TR and IA (P<0.001) than in UT. Pre-EHC GS activity and GS fractional velocity were increased (P<0.05) in TR when compared to UT and IA. Pre-EHC HK activity was increased (P<0.05) in IA when compared to UT and TR. Muscle glycogen was 66% lower (P<0.05) in TR than in UT and IA. CONCLUSIONS Short-term training resulted in increases in whole body insulin sensitivity, and GLUT-4 protein content and glycogen synthase activity in skeletal muscle. The enhancements in insulin sensitivity, GLUT-4 protein and glycogen synthase activity were still evident after 5 days of inactivity. POTENTIAL RELEVANCE Insulin resistance in equids has been associated with obesity and predisposition to laminitis. Regular physical activity may mitigate risk of these conditions via enhancement of insulin sensitivity and/or control of bodyweight.
Low-Level Image Properties of Visual Objects Predict Patterns of Neural Response across Category-Selective Regions of the Ventral Visual Pathway

Neuroimaging studies have revealed strong selectivity for object categories in high-level regions of the human visual system. However, it is unknown whether this selectivity is truly based on object category, or whether it reflects tuning for low-level features that are common to images from a particular category. To address this issue, we measured the neural response to different object categories across the ventral visual pathway. Each object category elicited a distinct neural pattern of response. Next, we compared the patterns of neural response between object categories. We found a strong positive correlation between the neural patterns and the underlying low-level image properties. Importantly, this correlation was still evident when the within-category correlations were removed from the analysis. Next, we asked whether basic image properties could also explain variation in the pattern of response to different exemplars from one object category (faces). A significant correlation was also evident between the similarity of neural patterns of response and the low-level properties of different faces, particularly in regions associated with face processing. These results suggest that the appearance of category-selective regions at this coarse scale of representation may be explained by the systematic convergence of responses to low-level features that are characteristic of each category.
Similarity between Brain Activity at Encoding and Retrieval Predicts Successful Realization of Delayed Intentions

Remembering delayed intentions can be highly demanding. Accuracy in laboratory paradigms assessing prospective memory (PM) is typically well below ceiling, and failure to remember intended behaviors after a delay is a common occurrence in everyday life. However, relatively little is known of the potential differences in brain activity that distinguish successful versus unsuccessful PM. In this fMRI study, participants repeatedly encoded, stored, and then had the opportunity to retrieve intended behaviors while engaged in a distracting ongoing task. This yielded a success rate of approximately two thirds. Overall levels of brain activity distinguished successful versus unsuccessful trials at all three stages (encoding, storage, and retrieval), suggesting multiple neural determinants of PM success. In addition, the voxelwise similarity between patterns of brain activity at encoding and retrieval was greater for successful than unsuccessful trials. This was true even in posterior cingulate, which showed opposite patterns of signal change between encoding and retrieval. Thus, successful realization of delayed intentions may be associated with reinstatement of encoding context at the time of retrieval.
FT-CoWiseNets: A Fault Tolerance Framework for Wireless Sensor Networks

In wireless sensor networks (WSNs), faults may occur through malfunctioning hardware, software errors or by external causes such as fire and flood. In business applications where WSNs are applied, failures in essential parts of the sensor network must be efficiently detected and automatically recovered. Current approaches proposed in the literature do not cover all the requirements of a fault tolerant system to be deployed in an enterprise environment and therefore are not suitable for such applications. In this paper we investigate these solutions and present FT-CoWiseNets, a framework designed to improve the availability of heterogeneous WSNs through an efficient fault tolerance support. The proposed framework satisfies the requirements and demonstrates to be more adequate to business scenarios than the current approaches.
INTEGRAL and Swift observations of the supergiant fast X-ray transient AX J1845.0-0433 = IGR J18450-0435

Context. AX J1845.0-0433 was discovered by ASCA in 1993 during fast outburst activity characterized by several flares on short timescales. Up to now, the source was not detected again by any X-ray mission. Its optical counterpart is suggested to be an O9.5I supergiant star, which is the only remarkable object found inside the ASCA error box. Aims. To detect and characterize new fast outbursts of AX J1845.0-0433 and confirm its supergiant HMXB nature, using INTEGRAL and archival Swift XRT observations. Methods. We performed an analysis of INTEGRAL IBIS and JEM–X data with OSA 5.1 as well as an analysis of archive Swift XRT data. Results. We report on fast flaring activity from the source on timescales of a few tens of minutes, the first to be reported since its discovery in 1993. Two outbursts have been detected by INTEGRAL (Apr. 2005 and Apr. 2006) with similar peak fluxes and peak luminosities of ~80 mCrab and 9.3 $\times$ 10 35 erg s -1 (20–40 keV), respectively. Two other outbursts were detected by Swift XRT on Nov. 2005 and Mar. 2006. The refined Swift XRT position of AX J1845.0-0433 confirms its association with the supergiant star previously proposed as optical counterpart. Conclusions. Our INTEGRAL and Swift results fully confirm the supergiant HMXB nature of AX J1845.0-0433 which can therefore be classified as a supergiant fast X-ray transient. Moreover they provide for the first time evidence of its recurrent fast transient behaviour.
Allopurinol prevents early alcohol-induced liver injury in rats.

Free radical formation caused by chronic ethanol administration could activate transcription factors such as nuclear factor-kappaB (NF-kappaB), which regulates production of inflammatory cytokines. Xanthine oxidase is one potential source of reactive oxygen species. Therefore, the purpose of this study is to determine whether allopurinol, a xanthine oxidase inhibitor and scavenger of free radicals, would affect free radical formation, NF-kappaB activation, and early alcohol-induced liver injury in rats. Male Wistar rats were fed a high-fat diet with or without ethanol (10-16 g/kg/day) continuously for up to 4 weeks with the Tsukamoto-French enteral protocol. Either allopurinol or saline vehicle was administered daily. Allopurinol had no effect on body weight or the cyclic pattern of ethanol in urine. Mean urine ethanol concentrations were 271 +/- 38 and 252 +/- 33 mg/dl in ethanol- and ethanol + allopurinol-treated rats, respectively. In the control group, serum aspartate aminotransferase and alanine aminotransferase levels were approximately 40 I.U. /l and 25 U/l, respectively. Administration of enteral ethanol for 4 weeks increased serum transaminases approximately 5-fold. Allopurinol blunted these increases significantly by approximately 50%. Ethanol treatment also caused severe fatty infiltration, mild inflammation, and necrosis. These pathological changes also were blunted significantly by allopurinol. Furthermore, enteral ethanol caused free radical adduct formation, values that were reduced by approximately 40% by allopurinol. NF-kappaB binding was minimal in the control group but was increased significantly nearly 2.5-fold by ethanol. This increase was blunted to similar values as control by allopurinol. These results indicate that allopurinol prevents early alcohol-induced liver injury, most likely by preventing oxidant-dependent activation of NF-kappaB.
Keep Your Options Open: An Information-Based Driving Principle for Sensorimotor Systems

The central resource processed by the sensorimotor system of an organism is information. We propose an information-based quantity that allows one to characterize the efficiency of the perception-action loop of an abstract organism model. It measures the potential of the organism to imprint information on the environment via its actuators in a way that can be recaptured by its sensors, essentially quantifying the options available and visible to the organism. Various scenarios suggest that such a quantity could identify the preferred direction of evolution or adaptation of the sensorimotor loop of organisms.
VQS: Linking Segmentations to Questions and Answers for Supervised Attention in VQA and Question-Focused Semantic Segmentation

Rich and dense human labeled datasets are among the main enabling factors for the recent advance on visionlanguage understanding. Many seemingly distant annotations (e.g., semantic segmentation and visual question answering (VQA)) are inherently connected in that they reveal different levels and perspectives of human understandings about the same visual scenes — and even the same set of images (e.g., of COCO). The popularity of COCO correlates those annotations and tasks. Explicitly linking them up may significantly benefit both individual tasks and the unified vision and language modeling. ,,We present the preliminary work of linking the instance segmentations provided by COCO to the questions and answers (QAs) in the VQA dataset, and name the collected links visual questions and segmentation answers (VQS). They transfer human supervision between the previously separate tasks, offer more effective leverage to existing problems, and also open the door for new research problems and models. We study two applications of the VQS data in this paper: supervised attention for VQA and a novel question-focused semantic segmentation task. For the former, we obtain state-of-the-art results on the VQA real multiple-choice task by simply augmenting the multilayer perceptrons with some attention features that are learned using the segmentation-QA links as explicit supervision. To put the latter in perspective, we study two plausible methods and compare them to an oracle method assuming that the instance segmentations are given at the test stage.
CLINICAL EVALUATION AND INVESTIGATION OF NEUROPATHY

The assessment and investigation of a possible neuropathy is one of the most common clinical problems facing the general neurologist. Studies of the prevalence of neuropathy in the community are rare but suggest a figure of between 2–8%,1 making peripheral neuropathy at least as common as stroke. Despite this high prevalence of neuropathy, it is only a small proportion of patients with neuropathies who are referred for detailed evaluation, principally those individuals with disabling disease, or with none of the obvious risk factors such as diabetes or alcoholism. A logical approach to the assessment of such patients is essential and can be organised into a number of basic questions. The neurologist faced with a patient with a neuropathy has to deal with literally thousands of possible causes, many extremely uncommon, and these can only be simplified by defining the neuropathy by other features that lead to the select few of most likely diagnoses. This is in part a process of pattern recognition but can be helped by a stepwise approach. Several algorithms2 and review articles3 have been published to aid this process and a typical one has been constructed here (fig 1). Figure 1 Algorithm showing a stepwise approach to the assessment and investigation of a possible neuropathy. CIDP, chronic inflammatory demyelinating polyradiculoneuropathy; CMT, Charcot-Marie-Tooth; EMG, electromyography; GBS, Guillain-Barre syndrome; HNPP, hereditary neuropathy with liability to pressure palsies; NCS, nerve conduction studies. The approach adopted in this article is to present the evaluation as a list of commonly asked questions that, if correctly addressed and answered, are likely to yield diagnostically important information, and hence direct appropriate management. This is not intended as an exhaustive account of neuropathy but is a personal view, illustrative of a diagnostic process that is commonly adopted. This question can usually be answered easily, …
Extensive Syncytium Formation Mediated by the Reovirus FAST Proteins Triggers Apoptosis-Induced Membrane Instability

ABSTRACT The fusion-associated small transmembrane (FAST) proteins of the fusogenic reoviruses are the only known examples of membrane fusion proteins encoded by nonenveloped viruses. While the involvement of the FAST proteins in mediating extensive syncytium formation in virus-infected and -transfected cells is well established, the nature of the fusion reaction and the role of cell-cell fusion in the virus replication cycle remain unclear. To address these issues, we analyzed the syncytial phenotype induced by four different FAST proteins: the avian and Nelson Bay reovirus p10, reptilian reovirus p14, and baboon reovirus p15 FAST proteins. Results indicate that FAST protein-mediated cell-cell fusion is a relatively nonleaky process, as demonstrated by the absence of significant [3H]uridine release from cells undergoing fusion and by the resistance of these cells to treatment with hygromycin B, a membrane-impermeable translation inhibitor. However, diminished membrane integrity occurred subsequent to extensive syncytium formation and was associated with DNA fragmentation and chromatin condensation, indicating that extensive cell-cell fusion activates apoptotic signaling cascades. Inhibiting effector caspase activation or ablating the extent of syncytium formation, either by partial deletion of the avian reovirus p10 ectodomain or by antibody inhibition of p14-mediated cell-cell fusion, all resulted in reduced membrane permeability changes. These observations suggest that the FAST proteins do not possess intrinsic membrane-lytic activity. Rather, extensive FAST protein-induced syncytium formation triggers an apoptotic response that contributes to altered membrane integrity. We propose that the FAST proteins have evolved to serve a dual role in the replication cycle of these fusogenic nonenveloped viruses, with nonleaky cell-cell fusion initially promoting localized cell-cell transmission of the infection followed by enhanced progeny virus release from apoptotic syncytia and systemic dissemination of the infection.