Miracle-dz/UniFAR-FTUs huggingface dataset:
Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation

Context KISS1R mutations have been reported in few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). Objective To describe in detail nCHH patients with biallelic KISS1R mutations belonging to 2 unrelated families, and to functionally characterize a novel KISS1R mutation. Results An original mutant, p.Tyr313His, was found in the homozygous state in 3 affected kindred (2 females and 1 male) from a consanguineous Portuguese family. This mutation, located in the seventh transmembrane domain, affects a highly conserved amino acid, perturbs the conformation of the transmembrane segment, and impairs MAP kinase signaling and intracellular calcium release. In the second family, a French Caucasian male patient with nCHH was found to carry two recurrent mutations in the compound heterozygous state (p.Leu102Pro/Stop399Arg). In this man, pulsatile GnRH (Gonadotropin Releasing Hormone) administration restored pulsatile LH (Luteinizing Hormone) secretion and testicular hormone secretion. Later, long-term combined gonadotropin therapy induced spermatogenesis, enabling 3 successive pregnancies that resulted in 2 miscarriages and the birth of a healthy boy. Conclusion We show that a novel loss-of-function mutation (p.Tyr313His) in the KISS1R gene can cause familial nCHH, revealing the crucial role of this amino acid in KISS1R function. The observed restoration of gonadotropin secretion by exogenous GnRH administration further supports, in humans, the hypothalamic origin of the gonadotropin deficiency in this genetic form of nCHH.
Proteomic analysis of brain proteins in the gracile axonal dystrophy (gad) mouse, a syndrome that emanates from dysfunctional ubiquitin carboxyl‐terminal hydrolase L‐1, reveals oxidation of key proteins

Ubiquitin carboxyl‐terminal hydrolase L‐1 (UCH L‐1) is a crucial enzyme for proteasomal protein degradation that generates free monomeric ubiquitin. Our previous proteomic study identified UCH L‐1 as one specific target of protein oxidation in Alzheimer's disease (AD) brain, establishing a link between the effect of oxidative stress on protein and the proteasomal dysfunction in AD. However, it is unclear how protein oxidation affects function, owing to the different responses of proteins to oxidation. Analysis of systems in which the oxidized protein displays lowered or null activity might be an excellent model for investigating the effect of the protein of interest in cellular metabolism and evaluating how the cell responds to the stress caused by oxidation of a specific protein. The gracile axonal dystrophy (gad) mouse is an autosomal recessive spontaneous mutant with a deletion on chromosome 5 within the gene encoding UCH L‐1. The mouse displays axonal degeneration of the gracile tract. The aim of this proteomic study on gad mouse brain, with dysfunctional UCH L‐1, was to determine differences in brain protein oxidation levels between control and gad samples. The results showed increased protein oxidation in thioredoxin peroxidase (peroxiredoxin), phosphoglycerate mutase, Rab GDP dissociation inhibitor α/ATP synthase and neurofilament‐L in the gad mouse brain. These findings are discussed with reference to the effect of specific protein oxidation on potential mechanisms of neurodegeneration that pertain to the gad mouse.
Partitioning the effects of biodiversity and environmental heterogeneity for productivity and mortality in a tropical tree plantation

1 Over 5000 trees were grown in plots of differing diversity levels (1, 3 and 6 species) in a plantation established in Panama. Four and five years after establishment, we analysed parameters related to the productivity of this tropical plantation (tree survival, height and biomass as well as plot basal area) to test for the presence of biodiversity effects. The relative importance of environmental heterogeneity (such as soil, topography, and drainage) and biodiversity on tree growth and mortality was determined using partial redundancy analysis. 2 Hierarchical clustering revealed nine different soil clusters based on soil quality and drainage. By chance, the six‐species plots were apparently established on more variable soils then on the other diversity levels. We found little evidence for spatial autocorrelation between subplots, with the exception of four subplots located on a ridge that extends on the North–South axis of the plantation and corresponds to a zone of higher productivity. 3 The redundancy analysis indicated that environmental heterogeneity and biodiversity together explained around 50% of the variation in subplot productivity and tree mortality. Environment explained 35–57% of the variation in productivity and mortality, respectively, whereas diversity explained an additional 23–30%. 4 Our simulation model revealed a significant positive effect of biodiversity on growth but no effect of biodiversity on mortality. The standardized effect sizes that we used to detect over‐ or under‐yielding or no effect in comparison with monoculture were highly variable and the variability was largely explained by traits related to site topography. 5 Synthesis. In our tropical tree plantation, we detected biodiversity effects at a scale relevant to conservation and quantified the relative importance of environmental heterogeneity and diversity on tree growth and mortality. Our results support the idea that environmental factors could act as hidden sources of variability in biodiversity experiments. Environmental and spatial heterogeneity induced variable responses to biodiversity and amplified the differences between three‐ and six‐species plots. Species identity explained more variation in productivity than did the species diversity. One species, Cedrela odorata, was associated with increased productivity.
On SIC-POVMs and MUBs in Dimension 6

We provide a partial solution to the problem of constructing mutually unbiased bases (MUBs) and symmetric informationally complete POVMs (SIC-POVMs) in non-prime-power dimensions. An algebraic description of a SIC-POVM in dimension six is given. Furthermore it is shown that several sets of three mutually unbiased bases in dimension six are maximal, i.e., cannot be extended.
Application of wearable human sensing system for human-CG interaction in AR space

Motion capture is useful way to interact with CG in AR space. However, typical systems are not robust against occlusion because they are using a number of cameras to capture markers placed on the body. Therefore we propose the wearable motion capture system that acquires human motion directly from various points on the body. Furthermore, acquisition of muscle activity with EMG sensor is used for recognition of phase-switching for interaction such as grabbing CG. As a result, we have confirmed it is possible to create more interactive/occlusion-free contents by using wearable motion sensing system.
The Value of Markov Chain Games with Incomplete Information on Both Sides

We consider zero-sum repeated games with incomplete information on both sides, where the states privately observed by each player follow independent Markov chains. It generalizes the model, introduced by Aumann and Maschler in the sixties and solved by Mertens and Zamir in the seventies, where the private states of the players were fixed. It also includes the model introduced in Renault [19] [Renault J (2006) The value of Markov chain games with lack of information on one side. Math. Oper. Res. 31(3):490–512. ], of Markov chain repeated games with lack of information on one side, where only one player privately observes the sequence of states. We prove here that the limit value exists, and we obtain a characterization via the Mertens-Zamir system, where the “nonrevealing value function” plugged in the system is now defined as the limit value of an auxiliary “nonrevealing” dynamic game. This nonrevealing game is defined by restricting the players not to reveal any information on the limit behavior of their .
Listening to Tags: Uplink RFID Measurements With an Open-Source Software-Defined Radio Tool

We present the software-defined radio (SDR) implementation of a Radio Frequency IDentification (RFID) Listener, a passive receive-only device that decodes the signals exchanged between the RFID Reader and the interrogated Tag following the Electronic Product Code Class-1 Generation-2 standard. Our RFID Listener is based on the open-source project GNU Radio. It provides complete flexibility and full control over the entire protocol stack down to the physical layer. As such, it can be used as a powerful but inexpensive tool for testing and measuring the performance of RFID systems in real operating conditions. In this paper, we leverage the SDR Listener for a number of experiments that, taken collectively, are illustrative of the potential of such tool for RFID research. First, we use it to test comparatively different timing recovery schemes for the reception of the Tag signal in uplink, through the analysis of bit-error statistics measured experimentally. We find that the scheme proposed by Harris and Rice based on polyphase filter bank displays excellent performance in this context, very close to the theoretical bound and with a gain of 5 dB over the more common Mueller and Muller scheme. Second, we use the Listener to evaluate the impact of frequency nulls in the uplink RFID channel for different indoor scenarios. We find that frequency nulls are pronounced particularly in the presence of metal objects and obstructions of the Fresnel zone, but frequency hopping is effective in counteracting the problem. Our experiments show that the signal backscattered by a passive Tag can be correctly received up to a distance of 35 m, with low-cost equipment and without highly directional antennas.
Metasearch Engines and Information Retrieval: Computational Complexity of Ranking Multiple Search Results

This paper analyzes the computational complexity of finding relevant documents on the Web. Given a search query that has n significant terms, relevant documents retrieved by search engines will contain at least a number k of the significant terms. The threshold k chosen will depend on the collection of documents and is determined experimentally upon formation of the collection. Algorithms are then provided to compute a similarity ranking. The fundamental analysis is based on combinatorial theory and theorems providing bounds on the runtime complexity of the algorithms are proven.
Nonreflecting boundary conditions based on nonlinear multidimensional characteristics

Nonlinear characteristic boundary conditions based on nonlinear multidimensional characteristics are proposed for 2‐ and 3‐D compressible Navier–Stokes equations with/without scalar transport equations. This approach is consistent with the flow physics and transport properties. Based on the theory of characteristics, which is a rigorous mathematical technique, multidimensional flows can be decomposed into acoustic, entropy, and vorticity waves. Nonreflecting boundary conditions are derived by setting corresponding characteristic variables of incoming waves to zero and by partially damping the source terms of the incoming acoustic waves. In order to obtain the resulting optimal damping coefficient, analysis is performed for problems of pure acoustic plane wave propagation and arbitrary flows. The proposed boundary conditions are tested on two benchmark problems: cylindrical acoustic wave propagation and the wake flow behind a cylinder with strong periodic vortex convected out of the computational domain. This new approach substantially minimizes the spurious wave reflections of pressure, density, temperature, and velocity as well as vorticity from the artificial boundaries, where strong multidimensional flow effects exist. The numerical simulations yield accurate results, confirm the optimal damping coefficient obtained from analysis, and verify that the method substantially improves the 1‐D characteristics‐based nonreflecting boundary conditions for complex multidimensional flows. Copyright © 2009 John Wiley & Sons, Ltd.
Directional cueing of gaze with a vibrotactile headband

Augmented attention is one of the ways human action can be enhanced with technologies. Still, more research is needed to find out effective ways to direct human attention to objects that have been determined as important to pay attention to. We investigated how vibrotactile stimulation given to the forehead could be used to cue gaze direction. We built a headband with an array of six vibrotactile actuators that presented short, tap like cues on the forehead. In an experiment, a horizontal line was shown on a computer display, and the participant's task was to look at the point of the line that they thought the vibrotactile cue was pointing to. Information of participant's gaze points was recorded using an eye tracker attached to the display. Analysis of the gaze points showed that for the majority of participants there were statistically significant differences between cues from different actuators. This indicated that the six actuators could successfully direct the participant's gaze to different areas of the visual field. On average, the precision of gaze points related to each actuator was comparable to the width of two to three fingers at arm's length. The findings of this study showed that there is potential in using vibrotactile cueing of gaze direction, for example, for directing visual attention and providing navigation cues with wearable devices such as headbands, head-mounted displays, and virtual reality headsets.
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours showing high microsatellite instability (MSI-H) should receive genetic counselling and be offered testing for germline mutations in DNA repair genes, mainly MLH1 and MSH2. Recently, an oncogenic V600E hotspot mutation within BRAF, a kinase encoding gene from the RAS/RAF/MAPK pathway, has been found to be associated with sporadic MSI-H colon cancer, but its association with HNPCC remains to be further clarified. Methods: BRAF-V600E mutations were analysed by automatic sequencing in colorectal cancers from 206 sporadic cases with MSI-H and 111 HNPCC cases with known germline mutations in MLH1 and MSH2. In addition, 45 HNPCC cases showing abnormal immunostaining for MSH2 were also analysed. Results: The BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining. Conclusions: Detection of the V600E mutation in a colorectal MSI-H tumour argues against the presence of a germline mutation in either the MLH1 or MSH2 gene. Therefore, screening of these mismatch repair (MMR) genes can be avoided in cases positive for V600E if no other significant evidence, such as fulfilment of the strict Amsterdam criteria, suggests MMR associated HNPCC. In this context, mutation analysis of the BRAF hotspot is a reliable, fast, and low cost strategy which simplifies genetic testing for HNPCC.
AN EXPLORATION OF THE DYNAMICS OF AUXILIARY NETWORK RESOURCES

With the coming of active networks, bandwidth will no longer be the only network resource. Programmable components inside the network introduce a computational load previously not present. To properly dimension network components requires an understanding of the expected demand for these non-bandwidth resources. Present-day World Wide Web caching is a good test bed for active network analysis in that it responds to demand for non-bandwidth resources, according to user interest and behaviour. Previous analysis of web cache statistics has found it to be statistically self-similar. One possible source of selfsimilarity is chaos. This idea, coupled with the notion that network behaviour is likely influenced by complex feedback loops, suggests that chaos may be present. The existence of chaos in traffic would give scope for better modelling and control of network resources over stochastic modelling. Our research uses the method of ‘Global False Nearest Neighbours’ to detect if chaos is present in cache traces, by distinguishing between deterministic chaos and random noise. Our results show that chaos is not readily present in the traces, despite the given reasons for expecting it. However, there is much scope for further study, both in terms of data sources for study and theory and method. AN EXPLORATION OF THE DYNAMICS OF AUXILIARY NETWORK RESOURCES Page
Detection of Bearing Faults of Induction Motor Using Park's Vector Approach

The reliability of an induction motor is of paramount importance in industrial, commercial, aerospace and military applications. Bearing play an important role in the reliability and performance of all motor systems. Due to close relationship between motor system development and bearing assembly performance, it is difficult to imagine the progress of modern rotating machinery without consideration of the wide application of bearing. Most faults arising in motors are often linked to bearing faults. This paper presents an experimental study to diagnose the bearing fault with help of Park’s vector approach. The experiment is conducted on 0.5 hp three phase induction motor. The bearing faults are replicated in the laboratory by drilling the outer and inner race of ball bearing with help of electric discharge machining. The LabVIEW software is used in the experiment to acquire the signal. The acquired signal is analyzed with Park vector approach. The current Park’s vector presentation is generated by programming in LabVIEW. The practical results show that Park’s Vector approach is an effective technique to diagnose the bearing fault at early stage.
An Unstructured Finite-Volume Technique for Shallow-Water Flows With Wetting and Drying Fronts

An unstructured finite volume numerical model is presented here for simulating shallow-water flows with wetting and drying fronts. The model is based on the Green’s theorem in combination with Chorin’s projection method. A 2nd -order upwind scheme coupled with a Least Square technique is used to handle convection terms. An Wetting and drying treatment is used in the present model to ensures the total mass conservation. To test it’s capacity and reliability, the present model is used to solve the Parabolic Bowl problem. We compare our numerical solutions with the corresponding analytical and existing standard numerical results. Excellent agreements are found in all the cases.Copyright © 2011 by JSME
Type-1 Cannabinoid Receptors Reduce Membrane Fluidity of Capacitated Boar Sperm by Impairing Their Activation by Bicarbonate

Background Mammalian spermatozoa acquire their full fertilizing ability (so called capacitation) within the female genital tract, where they are progressively exposed to inverse gradients of inhibiting and stimulating molecules. Methodology/Principal Findings In the present research, the effect on this process of anandamide, an endocannabinoid that can either activate or inhibit cannabinoid receptors depending on its concentration, and bicarbonate, an oviductal activatory molecule, was assessed, in order to study the role exerted by the type 1 cannabinoid receptor (CB1R) in the process of lipid membrane remodeling crucial to complete capacitation. To this aim, boar sperm were incubated in vitro under capacitating conditions (stimulated by bicarbonate) in the presence or in the absence of methanandamide (Met-AEA), a non-hydrolysable analogue of anandamide. The CB1R involvement was studied by using the specific inhibitor (SR141716) or mimicking its activation by adding a permeable cAMP analogue (8Br-cAMP). By an immunocytochemistry approach it was shown that the Met-AEA inhibits the bicarbonate-dependent translocation of CB1R from the post-equatorial to equatorial region of sperm head. In addition it was found that Met-AEA is able to prevent the bicarbonate-induced increase in membrane disorder and the cholesterol extraction, both preliminary to capacitation, acting through a CB1R-cAMP mediated pathway, as indicated by MC540 and filipin staining, EPR spectroscopy and biochemical analysis on whole membranes (CB1R activity) and on membrane enriched fraction (C/P content and anisotropy). Conclusions/Significance Altogether, these data demonstrate that the endocannabinoid system strongly inhibits the process of sperm capacitation, acting as membrane stabilizing agent, thus increasing the basic knowledge on capacitation-related signaling and potentially opening new perspectives in diagnostics and therapeutics of male infertility.
Wavelet Analysis of Stick-Slip Signals in Oscillators With Dry-Friction Contact

Wavelet transforms were compared between various simulated friction models and real stick-slip data. While simulations of several models produced stick-slip transition oscillations seen in the real data, the wavelet features of the compliant contact model with light damping best captured the characteristics of the experimental signal. The wavelet contours were also used to estimate the contact stiffness.
CloudScout: A Non-Intrusive Approach to Service Dependency Discovery

Nowadays, numerous enterprises are migrating their applications into cloud computing environments. Typically, the applications are composed of several dependent service components that span many hosts and network devices. In light of this, exploring the dependency between service components can be beneficial for achieving fast network application response time. Moreover, it is significant to consolidate service components according to resource constraints, service dependency, and network structure. However, it is a tedious task to discover the dependency among service components without expert knowledge of the running application. In this paper, we propose CloudScout, a non-intrusive approach that is capable of automatically discovering dependent service components. CloudScout analyzes the correlation among service components based on the time-series information from system monitoring logs. We address two key challenges in CloudScout: service distance calculation and dependent service clustering. We conduct experiments on five applications with 290 service components that span 20 physical hosts across two data centers. The experimental results demonstrate that CloudScout can successfully discover the dependency among service components and facilitate reducing the network latency of network applications and distributed applications.