Miracle-dz/UniFAR-FTUs huggingface dataset:
Autosomal dominant episodic ataxia: A heterogeneous syndrome

We describe six kindreds with autosomal dominant episodic ataxia, apparently representing three distinct syndromes. Four kindreds were characterized by episodic ataxia and response to acetazolamide, and in three, interictal nystagmus. One kindred was characterized by paroxysmal ataxia and in one member, paroxysmal choreoathetosis. The last kindred had brief attacks of ataxia and interictal neuromyotonia. The age of onset and severity of the disorder varied within each kindred. These kindreds illustrate the heterogenity of episodic ataxia as well as the variable expressivity within each kindred.
Distribution Channels in Travel : Using Mystery Shoppers to Understand the Influence of Travel Agency Recommendations

The objectives of this study were to understand the factors that influence travel agency recommendations in the U.K. The objectives were achieved using a mixture of focus groups, interviews and Mystery Shoppers. Exploration into the process of choosing a holiday showed that the brochure plays an important role for many consumers. However, for the travel agent the brochure is low priority, and even when the brochure is used, the travel agent often has a considerable amount of influence. Whether or not the agency is vertically integrated has considerable influence on the recommendation process. Based on analysis of the interviews and focus groups, a model was developed, and tested using Mystery Shoppers. Results from investigating 156 travel agents across the U.K. indicate that many travel agents owned by large tour operators, will attempt to push the holidays of their parent company rather than give impartial advise to consumers. Theoretical and practical implications are discussed.
System-Level Characterization of Datacenter Applications

In recent years, a number of benchmark suites have been created for the ``Big Data'' domain, and a number of such applications fit the client-server paradigm. A large volume of recent literature in characterizing ``Big Data'' applications have largely focused on two extremes of the characterization spectrum. On one hand, multiple studies have focused on client-side performance. These involve fine-tuning server-side parameters for an application to get the best client-side performance. On the other extreme, characterization focuses on picking one set of client-side parameters and then reporting the server microarchitectural statistics under those assumptions. While the two ends of the spectrum present interesting results, this paper argues that they are not enough, and in some cases, undesirable, to drive system-wide architectural decisions in datacenter design. This paper shows that for the purposes of designing an efficient datacenter, detailed microarchitectural characterization of ``Big Data'' applications is an overkill. It identifies four main system-level macro-architectural features and shows that these features are more representative of an application's system level behavior. To this end, a number of datacenter applications from a variety of benchmark suites are evaluated and classified into these previously identified macro-architectural features. Based on this analysis, the paper further shows that each application class will benefit from a very different server configuration leading to a highly efficient, cost-effective datacenter.
The Market Value of Variable Renewables The Effect of Solar and Wind Power Variability on their Relative Price

This paper provides a comprehensive discussion of the market value of variable renewable energy (VRE). The inherent variability of wind speeds and solar radiation affects the price that VRE generators receive on the market (market value). During wind and sunny times the additional electricity supply reduces the prices. Because the drop is larger with more installed capacity, the market value of VRE falls with higher penetration rate. This study aims to develop a better understanding how the market value with penetration, and how policies and prices affect the market value. Quantitative evidence is derived from a review of published studies, regression analysis of market data, and the calibrated model of the European electricity market EMMA. We find the value of wind power to fall from 110 percent of the average power price to 50-80 percent as wind penetration increases from zero to 30 percent of total electricity consumption. For solar power, similarly low values levels are reached already at 15 percent penetration. Hence, competitive large-scale renewables deployment will be more difficult to accomplish than many anticipate. The variability of solar and wind power affects their market value. The market value of variable renewables falls with higher penetration rates. We quantify the reduction with market data, numerical modeling, and a lit review. At 30% penetration, wind power is worth only 50-80% of a constant power source.
Examination of the Combined Effects of Chondroitinase ABC, Growth Factors and Locomotor Training following Compressive Spinal Cord Injury on Neuroanatomical Plasticity and Kinematics

While several cellular and pharmacological treatments have been evaluated following spinal cord injury (SCI) in animal models, it is increasingly recognized that approaches to address the glial scar, including the use of chondroitinase ABC (ChABC), can facilitate neuroanatomical plasticity. Moreover, increasing evidence suggests that combinatorial strategies are key to unlocking the plasticity that is enabled by ChABC. Given this, we evaluated the anatomical and functional consequences of ChABC in a combinatorial approach that also included growth factor (EGF, FGF2 and PDGF-AA) treatments and daily treadmill training on the recovery of hindlimb locomotion in rats with mid thoracic clip compression SCI. Using quantitative neuroanatomical and kinematic assessments, we demonstrate that the combined therapy significantly enhanced the neuroanatomical plasticity of major descending spinal tracts such as corticospinal and serotonergic-spinal pathways. Additionally, the pharmacological treatment attenuated chronic astrogliosis and inflammation at and adjacent to the lesion with the modest synergistic effects of treadmill training. We also observed a trend for earlier recovery of locomotion accompanied by an improvement of the overall angular excursions in rats treated with ChABC and growth factors in the first 4 weeks after SCI. At the end of the 7-week recovery period, rats from all groups exhibited an impressive spontaneous recovery of the kinematic parameters during locomotion on treadmill. However, although the combinatorial treatment led to clear chronic neuroanatomical plasticity, these structural changes did not translate to an additional long-term improvement of locomotor parameters studied including hindlimb-forelimb coupling. These findings demonstrate the beneficial effects of combined ChABC, growth factors and locomotor training on the plasticity of the injured spinal cord and the potential to induce earlier neurobehavioral recovery. However, additional approaches such as stem cell therapies or a more adapted treadmill training protocol may be required to optimize this repair strategy in order to induce sustained functional locomotor improvement.
Helper activity is required for the in vivo generation of cytotoxic T lymphocytes

B6.T1a(a) (Qa-1(a)) mice that are primed in vivo and restimulated in vitro with Qa-1 congenic spleen cells from B6 (Qa-1(b)) animals are unable to generate anti-Qa-1(b) cytotoxic T lymphocytes (CTL). This nonresponsive pattern was observed regardless of the route of immunization or the time of testing in vitro. Although B6.T1a(a) mice are nonresponders to Qa-1(b) when presented on B6 cells, these mice can generate anti-Qa-1(b) CTL when primed in vivo with Qa-1 and H-Y alloantigens (females primed with B6 male cells) or Qa-1 and minor-H- alloantigens (primed with sex-matched A.BY cells). Therefore, the inability to generate anti-Qa-1(b) CTL is due to a lack of helper or accessory antigens on B6 immunizing cells obligatory during in vivo priming, rather than an absence of anti-Qa-1(b) CTL precursors (CTL-P). Demonstration that the additional determinants required during in vivo priming actually function as carrier or helper determinants was shown by the requirement for linked recognition of Qa-1 and the helper determinants (H-Y) in vivo, and the fact that H-Y was not present on susceptible target ceils. Animals primed in vivo with H-Y only could not generate anti-Qa-1 CTL activity when challenged in vitro with both Qa-1 and H-Y, indicating that recognition of the helper determinant causes in vivo priming of CTL-P rather than generating helper activity that might activate unprimed CTL-P in vitro. Whereas unprimed peripheral CTL-P require the presence of both Qa-1 (CTL) and H-Y (helper) determinants for successful in vivo priming, helper determinants were not required in vitro because primed CTL-P from B6.T1a(a) mice could be driven to CTL in vitro using sex-matched B6 stimulator cells. The generation of anti-Qa-1(b) CTL is under immune response (Ir) gene control because F(1) mice, obtained by crossing responder A/J with nonresponder B6.T1a(a) animals, generated CTL to the Qa-1(b) alloantigen when presented on B6 spleen cells. Progeny testing of backcross mice further demonstrated that the Ir gene(s) is linked to the H-2 complex. These data indicate that an H-2-linked Ir gene controls the recognition of helper determinants required for CTL priming in vivo. These helper determinants can be distinguished from CTL determinants and both must be recognized together for successful priming of CTL-P.
A G ] 1 5 A pr 2 01 7 A bootstrap for the number of F q r-rational points on a curve over F q

In this note we present a fast algorithm that finds for any r the number Nr of Fqr rational points on a smooth absolutely irreducible curve C defined over Fq assuming that we know N1, . , Ng, where g is the genus of C. The proof of its validity is given in detail and its working are illustrated with several examples. In an Appendix we list the Python function in which we have implemented the algorithm together with other routines used in the examples.
Left ventricular mass increases with deteriorating glucose tolerance, especially in women: independence of increased arterial stiffness or decreased flow-mediated dilation: the Hoorn study.

OBJECTIVE Type 2 diabetes and impaired glucose metabolism (IGM) are associated with an increased cardiovascular disease (CVD) risk. Increased left ventricular mass (LVM) is thought to increase CVD risk through several unfavorable cardiac changes. Type 2 diabetes and IGM are associated with increased LVM, but the underlying mechanism is unclear. We investigated the association between glucose tolerance status (GTS) and LVM and explored whether any such association could be mediated through increased arterial stiffness, impaired endothelial function, or the presence of atherosclerosis. RESEARCH DESIGN AND METHODS We used ultrasound to measure LVM, carotid and femoral stiffness, carotid-femoral transit time, and flow-mediated vasodilation (FMD) and tonometry to estimate compliance and augmentation index. The study population (n = 780) consisted of 287 individuals with normal glucose metabolism (NGM), 179 with IGM, and 314 with type 2 diabetes, and the mean age was 68.4 years. RESULTS In women, after adjusting for age, height, BMI, and mean arterial pressure, LVM increased significantly with deteriorating GTS (LVM 157 g in NGM, 155 g in IGM, and 169 g in type 2 diabetes; P for trend <0.018). Additional adjustment for arterial stiffness, FMD, or the presence of atherosclerosis did not materially alter the results, even though these variables were significantly associated with both GTS and LVM. Indexes of hyperglycemia/-insulinemia or insulin resistance explained at most 7% of the association between GTS and LVM. In men, no statistically significant associations were observed. CONCLUSIONS Our data expand the conceptual view of the pathogenesis of GTS-related changes in LVM because we show that the increase in LVM in women is independent of increased arterial stiffness, impaired FMD, or the presence of atherosclerosis. In addition, we show that this increase in LVM is only minimally explained by indexes of hyperglycemia/-insulinemia or insulin resistance. Our data may, in part, explain the increased CVD risk seen in women with deteriorating GTS.
Bridging the electronic divide: patient and provider perspectives on e-mail communication in primary care.

OBJECTIVE To determine e-mail utilization patterns and attitudes toward e-mail use among primary care physicians and their ambulatory outpatient clinic patients. STUDY DESIGN Cross-sectional baseline survey. PARTICIPANTS AND METHODS Participants included 476 consecutive outpatient clinic patients, 126 general medical and family practice physicians, and 16 clinical and office staff from 2 large primary care centers within an academic teaching system. They completed a survey about e-mail usage patterns and their attitudes toward using e-mail for patient-provider communication. RESULTS More than half of patients (52.1%) were self-defined e-mail users, yet only 10.5% of those users had ever used e-mail to communicate with their doctors. Seventy percent of all patients said they would be willing to use e-mail to communicate with their doctors. Overall, patients were concerned about logistics, such as whether the message would get to the right person and how long it would take to get a response. Physicians and staff were more optimistic than patients about the potential for e-mail to improve the doctor-patient relationship. Patient e-mail users, patient e-mail nonusers, physicians, and staff reported low levels of concern about the security and privacy of e-mail. CONCLUSIONS Patient-provider e-mail may diffuse slowly into the primary care clinical practice setting because of patient concerns about efficiency and effectiveness and whether e-mail use will improve their relationship with providers. Managed care organizations that plan to build e-mail and Web-based patient portals will need to promote these technologies in a way that educates both patient and providers about their appropriate use.
Compensatory ahpC Gene Expression in Isoniazid-Resistant Mycobacterium tuberculosis

Mutations that eliminate KatG catalase-peroxidase activity prevent activation of isoniazid and are a major mechanism of resistance to this principal drug for the treatment of Mycobacterium tuberculosis infections. However, the loss of KatG activity in clinical isolates seemed paradoxical because KatG is considered an important factor for the survival of the organism. Expression of either KatG or the recently identified alkyl hydroperoxidase AhpC was sufficient to protect bacilli against the toxic effects of organic peroxides. To survive during infection, isoniazid-resistant KatG mutants have apparently compensated for the loss of KatG catalase-peroxidase activity by a second mutation, resulting in hyperexpression of AhpC.
Projecting the future burden of cancer: Bayesian age–period–cohort analysis with integrated nested Laplace approximations

The projection of age‐stratified cancer incidence and mortality rates is of great interest due to demographic changes, but also therapeutical and diagnostic developments. Bayesian age–period–cohort (APC) models are well suited for the analysis of such data, but are not yet used in routine practice of epidemiologists. Reasons may include that Bayesian APC models have been criticized to produce too wide prediction intervals. Furthermore, the fitting of Bayesian APC models is usually done using Markov chain Monte Carlo (MCMC), which introduces complex convergence concerns and may be subject to additional technical problems. In this paper we address both concerns, developing efficient MCMC‐free software for routine use in epidemiological applications. We apply Bayesian APC models to annual lung cancer data for females in five different countries, previously analyzed in the literature. To assess the predictive quality, we omit the observations from the last 10 years and compare the projections with the actual observed data based on the absolute error and the continuous ranked probability score. Further, we assess calibration of the one‐step‐ahead predictive distributions. In our application, the probabilistic forecasts obtained by the Bayesian APC model are well calibrated and not too wide. A comparison to projections obtained by a generalized Lee–Carter model is also given. The methodology is implemented in the user‐friendly R‐package BAPC using integrated nested Laplace approximations.
CONSTRUCTION AND DYNAMIC PERFORMANCE OF A PNEUMATIC MUSCLE ACTUATED TRANSLATION MODULE FOR ROBOTIC ARMS DESIGNED FOR WHEELCHAIRS

Pneumatic muscle actuated translation modules represent an innovative solution for systems designed for wheelchairs endowed with robotic arms. Pneumatic muscle actuated robotic arms are intended to increase the degree of autonomy of persons with impairments of the lower and upper limbs. The paper presents in detail the construction of such a translation module, as well as its dynamic performance. Based on the obtained experimental results the dependencies of the stroke lengths achievable by means of pneumatic muscles on air feed pressure and load are highlighted. The developed empirical model gives a concrete and effective description facilitating the understanding of the mechanical behaviour of the pneumatic muscle, in view of optimal design and utilization.
Thermophoresis at a charged surface: the role of hydrodynamic slip

By matching boundary layer hydrodynamics with slippage to the force-free flow at larger distances, we obtain the thermophoretic mobility of charged particles as a function of the Navier slip length b. A moderate value of b augments Ruckenstein’s result by a term 2b/λ, where λ is the Debye length. If b exceeds the particle size a, the enhancement coefficient a/λ is independent of b but proportional to the particle size. Similar effects occur for transport driven by a salinity gradient or by an electric field.
Total Stability Properties Based on Fixed Point Theory for a Class of Hybrid Dynamic Systems

Robust stability results for nominally linear hybrid systems are obtained from total stability theorems for purely continuous-time and discrete-time systems by using the powerful tool of fixed point theory. The class of hybrid systems dealt consists, in general, of coupled continuous-time and digital systems subject to state perturbations whose nominal (i.e., unperturbed) parts are linear and, in general, time-varying. The obtained sufficient conditions on robust stability under a wide class of harmless perturbations are dependent on the values of the parameters defining the over-bounding functions of those perturbations. The weakness of the coupling dynamics in terms of norm among the analog and digital substates of the whole dynamic system guarantees the total stability provided that the corresponding uncoupled nominal subsystems are both exponentially stable. Fixed point stability theory is used for the proofs of stability. A generalization of that result is given for the case that sampling is not uniform. The boundedness of the state-trajectory solution at sampling instants guarantees the global boundedness of the solutions for all time. The existence of a fixed point for the sampled state-trajectory solution at sampling instants guarantees the existence of a fixed point of an extended auxiliary discrete system and the existence of a global asymptotic attractor of the solutions which is either a fixed point or a limit globally stable asymptotic oscillation.
Open issues in interdomain routing: a survey

This article surveys several research challenges in interdomain routing. We introduce and describe these challenges in a comprehensible manner, along with a review of the most compelling contributions and ongoing research efforts addressing each of the exposed issues. During this analysis we identify the relation between these research challenges and now they influence each other. We also present our perspectives on why these issues remain largely unsolved, and point out why some of the proposals made so far have not yet been adopted. We hope this can provide some insight on future directions in this complex research area.
Effects of the Yangjing Capsule Extract on Steroidogenesis and Apoptosis in Mouse Leydig Cells

Objectives. This study aimed to explore the effect and mechanism of Yangjing capsule on testosterone secretion in mouse Leydig tumor cells (MLTC-1). Methods. MLTC-1 cells were treated with the Yangjing capsule extract for 24 h. The testosterone level in medium was measured by radioimmunoassay. The expression of steroidogenic enzymes (StAR, CYP11A1, and HSD3B) in the cells was examined using real-time RT-PCR and immunoblotting. Additionally, MLTC-1 cells were treated for 48 h in a serum-free medium. The cell viability was measured by MTT assay. The cell cycle and apoptosis were analyzed using flow cytometry. The expression of activated caspase-3 was analyzed using RT-PCR and a colorimetric protease assay. Results. The Yangjing capsule extract increased testosterone production and the expression of StAR, CYP11A1, and HSD3B mRNAs and proteins compared with the control. H89 significantly inhibited these effects. The medicine improved the viability of MLTC-1 cells, decreased the number of cells in G0/G1 phase, and increased the number of cells in S-phase, as well as prevented cell apoptosis by inhibiting caspase-3. Conclusion. The Yangjing capsule can stimulate MLTC-1 cells to secrete testosterone and may be an alternative treatment for diseases characterized by insufficient testosterone production.
Phosphorylation sites in BubR1 that regulate kinetochore attachment, tension, and mitotic exit

BubR1 kinase is essential for the mitotic checkpoint and also for kinetochores to establish microtubule attachments. In this study, we report that BubR1 is phosphorylated in mitosis on four residues that differ from sites recently reported to be phosphorylated by Plk1 (Elowe, S., S. Hummer, A. Uldschmid, X. Li, and E.A. Nigg. 2007. Genes Dev. 21:2205–2219; Matsumura, S., F. Toyoshima, and E. Nishida. 2007. J. Biol. Chem. 282:15217–15227). S670, the most conserved residue, is phosphorylated at kinetochores at the onset of mitosis and dephosphorylated before anaphase onset. Unlike the Plk1-dependent S676 phosphorylation, S670 phosphorylation is sensitive to microtubule attachments but not to kinetochore tension. Functionally, phosphorylation of S670 is essential for error correction and for kinetochores with end-on attachments to establish tension. Furthermore, in vitro data suggest that the phosphorylation status of BubR1 is important for checkpoint inhibition of the anaphase-promoting complex/cyclosome. Finally, RNA interference experiments show that Mps1 is a major but not the exclusive kinase that specifies BubR1 phosphorylation in vivo. The combined data suggest that BubR1 may be an effector of multiple kinases that are involved in discrete aspects of kinetochore attachments and checkpoint regulation.