Miracle-dz/UniFAR-FTUs huggingface dataset:
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

Noonan syndrome (NS) is a relatively common developmental disorder with a pleomorphic phenotype. Mutations causing NS alter genes encoding proteins involved in the RAS‐MAPK pathway. We and others identified Casitas B‐lineage lymphoma proto‐oncogene (CBL), which encodes an E3‐ubiquitin ligase acting as a tumor suppressor in myeloid malignancies, as a disease gene underlying a condition clinically related to NS. Here, we further explored the spectrum of germline CBL mutations and their associated phenotype. CBL mutation scanning performed on 349 affected subjects with features overlapping NS and no mutation in NS genes allowed the identification of five different variants with pathological significance. Among them, two splice‐site changes, one in‐frame deletion, and one missense mutation affected the RING domain and/or the adjacent linker region, overlapping cancer‐associated defects. A novel nonsense mutation generating a v‐Cbl‐like protein able to enhance signal flow through RAS was also identified. Genotype–phenotype correlation analysis performed on available records indicated that germline CBL mutations cause a variable phenotype characterized by a relatively high frequency of neurological features, predisposition to juvenile myelomonocytic leukemia, and low prevalence of cardiac defects, reduced growth, and cryptorchidism. Finally, we excluded a major contribution of two additional members of the CBL family, CBLB and CBLC, to NS and related disorders.
The Brain’s Response to the Human Voice Depends on the Incidence of Autistic Traits in the General Population

Optimal brain sensitivity to the fundamental frequency (F0) contour changes in the human voice is important for understanding a speaker’s intonation, and consequently, the speaker’s attitude. However, whether sensitivity in the brain’s response to a human voice F0 contour change varies with an interaction between an individual’s traits (i.e., autistic traits) and a human voice element (i.e., presence or absence of communicative action such as calling) has not been investigated. In the present study, we investigated the neural processes involved in the perception of F0 contour changes in the Japanese monosyllables “ne” and “nu. ” “Ne” is an interjection that means “hi” or “hey” in English; pronunciation of “ne” with a high falling F0 contour is used when the speaker wants to attract a listener’s attention (i.e., social intonation). Meanwhile, the Japanese concrete noun “nu” has no communicative meaning. We applied an adaptive spatial filtering method to the neuromagnetic time course recorded by whole-head magnetoencephalography (MEG) and estimated the spatiotemporal frequency dynamics of event-related cerebral oscillatory changes in beta band during the oddball paradigm. During the perception of the F0 contour change when “ne” was presented, there was event-related de-synchronization (ERD) in the right temporal lobe. In contrast, during the perception of the F0 contour change when “nu” was presented, ERD occurred in the left temporal lobe and in the bilateral occipital lobes. ERD that occurred during the social stimulus “ne” in the right hemisphere was significantly correlated with a greater number of autistic traits measured according to the Autism Spectrum Quotient (AQ), suggesting that the differences in human voice processing are associated with higher autistic traits, even in non-clinical subjects.
Effects of cerebrovascular autoregulation and CO2 reactivity in experimental localized brainstem infarction

Abstract Using the previously reported method of experimental localized brainstem infarct in dogs, we designed this study to elucidate sequential changes of regional cerebral blood flow (rCBF) in three separate regions of the central nervous system: the cerebral cortex, thalamus, and midbrain. The data obtained were referred to in subsequent investigations of cerebrovascular autoregulation and vasomotor reactivity to C02. Localized brainstem infarct was produced by permanently occluding the perforators of the posterior cerebral arteries between the bilateral origins of the posterior communicating arteries. The hydrogen clearance method was applied to measure rCBF. Cerebrovascular autoregulation and CO2 reactivity were assessed in three regions 1, 3, and 5 h after vascular occlusion, respectively. Vascular occlusion resulted in a decrease of rCBF that was 65% in the midbrain and close to 30%–40% in the thalamus. However, no significant change was seen in the cerebral cortex even 5 h after vascular occlusion. Induced hypertension impaired autoregulation in the thalamus, while it was preserved in the cerebral cortex. Induced hypotension did not alter autoregulation in any of the three regions. A marked loss of CO2 reactivity was observed in the ischemic brainstem, although it was well preserved in the cerebral cortex. The results suggest that noradrenergic fibers originating from the cervical sympathetic ganglia play a main role in the cerebrovascular autoregulation in the cerebral cortex, while noradrenergic fibers possibly originating from the autonomic centers in the brainstem are responsible in the thalamus; that the noradrenergic neuron probably is not involved in the maintenance of cerebral blood flow during hypotension; and that the effect of CO2 is mediated by its direct effect on the arteriolar wall in the central nervous system. [Neurol Res 2000; 22: 197–203]
Increased Prevalence of Sensing Types in Men with Cluster Headaches

To ascertain whether the percentage of men who suffer with cluster headaches and are classified as sensing types according to Jung's theory of psychological types was comparable to the percentage (74%) of Sensing types that was found by Gallagher, et al. among women who experience migraine headaches, the Myers-Briggs Type Indicator® was administered to 25 male cluster-headache patients. There were 19 (76%) male Sensing types, and this was comparable to the percentage of Sensing types for migrainous women. The results are discussed as supporting previous contentions that Sensing types may be prone to developing psychosomatic symptoms related to stress.
Short Term Minimum Water Temperatures Determine Levels of Infection by the Amphibian Chytrid Fungus in Alytes obstetricans Tadpoles

Amphibians are one of the groups of wildlife most seriously threatened by emerging infectious disease. In particular, chytridiomycosis, caused by the aquatic fungus Batrachochytrium dendrobatidis, is responsible for amphibian species declines on a worldwide scale. Population-level outcomes following the introduction of the pathogen are context dependent and mediated by a large suite of abiotic and biotic variables. In particular, studies have shown that temperature has a key role in determining infection dynamics owing to the ectothermic nature of the amphibian host and temperature-dependency of pathogen growth rates. To assess the temperature-dependent seasonality of infectious burdens in a susceptible host species, we monitored lowland populations of larval midwife toads, Alytes obstetricians, in Central Spain throughout the year. We found that infections were highly seasonal, and inversely correlated against water temperature, with the highest burdens of infection seen during the colder months. Short-term impacts of water-temperature were found, with the minimum temperatures occurring before sampling being more highly predictive of infectious burdens than were longer-term spans of temperature. Our results will be useful for selecting the optimal time for disease surveys and, more broadly, for determining the key periods to undertake disease mitigation.
Determination of Angptl4 mRNA as a Diagnostic Marker of Primary and Metastatic Clear Cell Renal-Cell Carcinoma

Background We have previously shown that angiopoietin-like 4 (angptl4) mRNA, a hypoxia-inducible gene, is highly expressed in clear cell renal-cell carcinoma (ccRCC), the most common subtype of RCC for which no specific marker is available. We here investigated whether angptl4 mRNA 1) could be a useful diagnostic and/or prognostic marker of ccRCC in a large and comprehensive retrospective series, 2) induction is dependent on the VHL status of tumors. Methodology/Principal Findings Using in situ hybridization, we report that angptl4 mRNA is expressed in 100% of both sporadic (n = 102) and inherited (n = 6) primary ccRCCs, without any statistical association with nuclear grade (p = 0.39), tumor size (p = 0.09), stage grouping (p = 0.17), progression-free survival (p = 0.94), and overall survival (p = 0.80). Angptl4 mRNA was also expressed in 26 (87%) of 30 secondary ccRCCs but neither in any other secondary RCCs (n = 7). In contrast, angptl4 mRNA was neither expressed in 94% non-ccRCC renal tumors (papillary RCCs (n = 46), chromophobe RCCs (n = 28), and oncocytomas (n = 9)), nor in non-renal clear cell carcinomas (n = 39). Angptl4 expression was also examined in tumors associated (n = 23) or not associated (n = 66) with VHL disease. 40 (98%) hemangioblastomas expressed angptl4 whereas all pheochromocytomas (n = 23) and pancreatic tumors (n = 25) were angptl4-negative, whatever their VHL status. Conclusions/Significance Angptl4 mRNA expression was highly associated with ccRCC (p = 1.5 10−49, Chi square test) allowing to define its expression as a diagnosis marker for primary ccRCC. Moreover, angptl4 mRNA allows to discriminate the renal origin of metastases of clear-cell carcinomas arising from various organs. Finally, inactivation of VHL gene is neither necessary nor sufficient for angptl4 mRNA induction.
Improved robot attitudes and emotions at a retirement home after meeting a robot

This study investigated whether attitudes and emotions towards robots predicted acceptance of a healthcare robot in a retirement village population. Residents (n = 32) and staff (n = 21) at a retirement village interacted with a robot for approximately 30 minutes. Prior to meeting the robot, participants had their heart rate and blood pressure measured. The robot greeted the participants, assisted them in taking their vital signs, performed a hydration reminder, told a joke, played a music video, and asked some questions about falls and medication management. Participants were given two questionnaires; one before and one after interacting with the robot. Measures included in both questionnaires were the Robot Attitude Scale (RAS) and the Positive and Negative Affect Schedule (PANAS). After using the robot, participants rated the overall quality of the robot interaction. Both residents and staff reported more favourable attitudes (p < .05) and decreases in negative affect (p < .05) towards the robot after meeting it, compared with before meeting it. Pre-interaction emotions and robot attitudes, combined with post-interaction changes in emotions and robot attitudes, were highly predictive of participants' robot evaluations (R = .88, p < .05). The results suggest both pre-interaction emotions and attitudes towards robots, as well as experience with the robot, are important areas to monitor and address in influencing acceptance of healthcare robots in retirement village residents and staff. The results support an active cognition model that incorporates a feedback loop based on re-evaluation after experience.
On the Complexity of Computing Estimates of Condition Measures of a Conic Linear System

Condition numbers based on the "distance to ill-posedness"? (d) have been shown to play a crucial role in the theoretical complexity of solving convex optimization models. In this paper, we present two algorithms and corresponding complexity analysis for computing estimates of? (d) for a finite-dimensional convex feasibility problemP(d) in standard primal form: findx that satisfiesAx =b,x ? C X , whered =(A, b) is the data for the problemP(d). Under one choice of norms for them- andn-dimensional spaces, the problem of estimating? (d) is hard (co-NP complete even whenC X= R n +). However, when the norms are suitably chosen, the problem becomes much easier: We can estimate? (d) to within a constant factor of its true value with complexity bounds that are linear in ln (C(d)) (whereC(d) is the condition number of the datad forP(d)), plus other quantities that arise naturally in consideration of the problemP(d). The first algorithm is an interior-point algorithm, and the second algorithm is a variant of the ellipsoid algorithm. The main conclusion of this work is that when the norms are suitably chosen, computing an estimate of the condition measures ofP(d) is essentially not much harder than computing a solution ofP(d) itself.
Rank Incentives: Evidence from a Randomized Workplace Experiment

Performance rankings are a very common workplace management practice. Behavioral theories suggest that providing performance rankings to employees, even without pecuniary consequences, may directly shape effort due to the rank’s effect on self-image. In a three-year randomized control trial with full-time furniture salespeople (n=1754), I study the effect on sales performance in a two-by-two experimental design where I vary (i) whether to privately inform employees about their performance rank; and (ii) whether to give benchmarks, i.e. data on the current performance required to be in the top 10%, 25% and 50%. The salespeople’s compensation is only based on absolute performance via a high-powered commission scheme in which rankings convey no direct additional financial benefits. There are two important innovations in this experiment. First, prior to the start of the experiment all salespeople were told their performance ranking. Second, employees operate in a multi-tasking environment where they can sell multiple brands. There are four key results: First, removing rank feedback actually increases sales performance by 11%, or 1/10 th of a standard deviation. Second, only men (not women) change their performance. Third, adding benchmarks to rank feedback significantly raises performance, but it is not significantly different from providing no feedback. Fourth, as predicted by the multi-tasking model, the treatment effect increases with the scope for effort substitution across furniture brands as employees switch their effort to other tasks when their rank is worse than expected.
Comparing the Impact of Intraperitoneal Hydrocortisone With Bupivacaine on Postoperative Pain After Laparoscopic Cholecystectomy

Background: Postoperative pain is a major complaint following laparoscopic cholecystectomy. Objectives: The aim of this study was to compare the impact of intraperitoneal hydrocortisone with intraperitoneal bupivacaine on pain relief after laparoscopic cholecystectomy Patients and Methods: In a double blind clinical trial, 63 candidates for laparoscopic cholecystectomy were randomly allocated to receive intraperitoneal instillation of either 100 mg bupivacaine in 250 mL normal saline (n = 32) or 100 mg hydrocortisone in 250 mL normal saline (n = 31) before insufflation of CO2 into the peritoneum for postoperative pain relief. Patients were investigated regarding abdominal and shoulder pain using (visual analog scale) VAS in recovery room and at 6, 12 and 24 hours postoperatively. Patients were also followed regarding postoperative analgesic requirements, nausea and vomiting, and return of bowel function. Results: Sixty patients completed the study. Patients in the hydrocortisone group had no statistically significant abdominal and shoulder pain scores compared to the bupivacaine group. The patients were similar regarding postoperative analgesic requirements, return of bowel function, nausea and vomiting. No adverse effect was detected in either group. Conclusions: Intraperitoneal administration of hydrocortisone is as effective as bupivacaine to reduce pain and analgesic requirements after laparoscopic cholecystectomy.
On the solvability of the constrained Lyapunov problem

This paper considers system theoretic conditions for the solvability of the so-called constrained Lyapunov problem for non-square systems. These problems commonly appear in the control systems literature. Both a static output feedback problem and an observer problem are considered. The basis for the work described here is a new canonical form which simplifies the analysis and deals with the equality constraint in a simple way
Development and investigation of novel solid self-nanoemulsifying system loaded with hydrochlorothiazide for the treatment of hypertension

Objective: The present study was aimed at formulating and evaluating a novel solid self-nano emulsifying drug delivery system (SNEDDS) to increase the solubility and bioavailability of hydrochlorothiazide (HCZ). Enhancing both solubility and bioavailability of drugs remain the cornerstone for achieving successful outcomes of delivery systems. Furthermore, employing nanotechnology-based formulations such as SNEDDS offers important advantage; the most important is the protection of the drug from enzymatic or chemical degradation. Materials and Methods: Liquid SNEDDS (L-SNEDDS) was prepared by adding a drug to oil, surfactant, and co-surfactant and heated up to at 60°C under continuous stirring. Solid SNEDDS (S-SNEDDS) was prepared by mixing L-SNEDDS with microcrystalline cellulose in 1:1 proportion. Results: The scanning electron microscopy showed that S-SNEDDS was spherical with an average particle size of 66.9 nm and 69.2 nm for both L-SNEDDS and S-SNEDDS, respectively. Ex vivo skin permeation study indicated that 100% drug was released from both the L-SNEDDS and S-SNEDDS formulation SF3 in 3 h. Analysis of variance test showed significant differences (Moderately significant P < 0.01) in the values when compared to a marketed product. Conclusion: The prepared S-SNEDDS helped in improving the solubility of the poorly soluble HCZ, which is a step forward toward bioavailability enhancement and thus increased therapeutic efficacy of the drug.
Mode-hop free operation throughout lifetime confirmed in a 2μm distributed Bragg reflector laser for gas sensing

An InGaAs based distributed Bragg reflector (DBR) laser operating at 2 μm was fabricated and evaluated as a light source for real-time gas sensing for which mode-hop free operation throughout its lifetime is essential. We therefore performed an aging test to confirm mode-hop free operation. Current was injected into the active/SOA region and/or the DBR/phase control (PC) region at 85 °C. The changes in threshold current and wavelength were not significant after 5000 h of aging. As the wavelength shifts for DBR and PC current after aging are comparable, we confirmed mode-hop free operation of the laser throughout its lifetime as a gas-sensing light source.
Chaos and Weather Forecasting: the Role of the unstable Subspace in Predictability and State Estimation Problems

In the first part of this paper, we review some important results on atmospheric predictability, from the pioneering work of Lorenz to recent results with operational forecasting models. Particular relevance is given to the connection between atmospheric predictability and the theory of Lyapunov exponents and vectors. In the second part, we briefly review the foundations of data assimilation methods and then we discuss recent results regarding the application of the tools typical of chaotic systems theory described in the first part to well established data assimilation algorithms, the Extended Kalman Filter (EKF) and Four Dimensional Variational Assimilation (4DVar). In particular, the Assimilation in the Unstable Space (AUS), specifically developed for application to chaotic systems, is described in detail.
The impact of a nutrition education intervention on main meal quality and fruit intake in people with financial problems.

BACKGROUND As part of a course teaching household budgeting, a nutrition education intervention was provided to people with financial problems. The present study aimed at assess the effects of this intervention on the nutritional quality of their main meal and fruit intake, and to collect process information on intervention participation, reactions and opinions. METHODS For the effect study, a quasi-experimental multiple pre and post-test control group design was used. Telephone dietary recalls were conducted with 35 people in the intervention group and 39 people in the control group. Observations, personal interviews and written questionnaires were used to collect the process data. RESULTS A significant reduction in saturated fat intake during the mail meal was found. Also, an intervention effect was found for fruit juice consumption, but not for daily fruit intake or vegetable intake during main meal occasions. CONCLUSIONS The process data revealed some improvements that should be made to the intervention, such as providing more individualized information and tailored recipes.
A study on the suitability of which yarn number to use for recycle polyester fiber

Abstract Recycling and reuse of materials is not new to the textile and apparel industry. Recycling refers to the breakdown of product into its raw materials in order for the raw material to be reclaimed and used in new products. The aim of the study is that the examining the usage of recycle polyester fiber (rPET) in different yarn count and blend ratio and so to determine which count and blend ratio is more suitable for rPET usage. For this aim, 24 yarns containing recycle polyester fiber, virgin polyester fiber and viscose fiber as raw material were obtained in different yarn counts which are Ne 10, Ne 20, Ne 30 and Ne 40, and in different blend ratios. Yarn diameter, density, shape (roundness), unevenness, imperfection, hairiness, and yarn tensile tests were applied to the obtained yarns. The findings obtained by experimental and statistical study show that rPET fiber has usually negative effects on the yarn properties in especially fine yarns due to physical and chemical deterioration caused by contaminants of during re-processing of recycle polyester fiber. Based on the findings it is revealed that the values of unevenness, imperfection, and density increase whereas the values of diameter, hairiness, and tensile decrease from coarse yarns to fine yarns. As a conclusion it is possible to say that rPET fiber is suitable for thick yarns which are especially Ne 10 and Ne 20 as pure and in all blend ratios, and rPET fiber is suitable if it is used in lower ratios than 65% for Ne 30 yarns, whereas it is suitable if it is used in lower ratios than 35% for Ne 40 yarns.
Intensive melt shearing and calcium concentration effects on grain refinement of commercial purity Mg

Abstract The effects of intensive melt shearing and Ca concentration on grain refinement of commercial purity Mg have been investigated by standard TP-1 casting tests, X-ray diffraction combined with the observation of optical microscope and scanning electron microscope. It was found that, without intensive melt shearing, Ca addition greatly improved grain structure of Mg from columnar grain to equiaxed grain. With Ca concentration increasing from 0.01 to 1 wt. %, the average grain size of the alloy gradually decreased. When intensive melt shearing was applied, the grain structures of the alloy remained equiaxed grain with Ca concentration variation. The average grain size first decreased and then kept invariable with Ca concentration increasing to 1 wt. %. The grain refining mechanism of Ca concentration variable and intensive melt shearing was discussed.
Education, gender and cognitive performance in a 62-year-old normal population: results from the Turva Project

Synopsis Four WAIS (Wechsler Adult Intelligence Scale) subtests, and tasks of memory and cognitive control were administered to a population sample of 143 men and 179 women. Subjects with a minor advantage in years of education out-performed those with only primary schooling. Gender-related effects were also remarkable. Whereas the general abilities were equal in the genders, women out-performed men on recall of word pairs and objects, on verbal cognitive control and on Digit Symbol. In contrast, men excelled on Trail Making A, and on Block Design. The findings emphasize the need for age norms by gender and education for cognitive tests.