Miracle-dz/UniFAR-FTUs huggingface dataset:
Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature

Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.
The effects of real versus hypothetical reward on delay and probability discounting

Delay discounting and probability discounting tasks providing hypothetical rewards have commonly been used to measure levels of impulsivity and risk taking. Results have been inconsistent as to whether real, compared with hypothetical, rewards influence choice behaviour in delay discounting tasks. This experiment examined choice behaviour in 38 healthy individuals using delay and probability discounting tasks involving both real and hypothetical rewards (£0.10/£0.20), real delays, and probabilistic outcomes. It was hypothesized that choice behaviour when receiving real rewards would be less impulsive and less risky than when receiving hypothetical rewards. The tasks were designed so that a mathematical model (the multiplicative hyperbolic model of choice) could be applied to assess effects on discounting parameters. The provision of real rewards was associated with significantly decreased impulsive, but not risky, choice although the size of effect was small and was influenced by the order of presentation. Repeated presentation of both tasks increased quantity discounting but not delay or probability discounting parameters. These results indicate that the nature of the reward provided, and repetition effects, need to be taken into account when designing discounting studies.
Metformin for antipsychotic-related weight gain and metabolic abnormalities: when, for whom, and for how long?

The seriously mentally ill have significantly more cardiovascular risk factors, receive less appropriate medical care, and die on average 15 to 30 years earlier than the general population, mostly because of cardiovascular disorders (1). Reasons for this physical health disparity are complex and include unhealthy lifestyle behaviors, illness-related effects (including poverty, negative symptoms, depression, etc.), unclear genetic links between mental and medical disorders, and adverse medication effects, particularly of antipsychotics (1). Antipsychotics are key tomanaging schizophrenia spectrum disorders (2) and are prescribed for various other psychiatric conditions (3). However, their benefit-to-risk ratio is challenged by weight gain and metabolic abnormalities (1). Several strategies help minimize adverse cardiometabolic effects of antipsychotics: healthy lifestyle interventions (4), switching to lowerrisk antipsychotics (5), and the addition of medications that may lower body weight and/or lipid and glucose parameters (6). Interestingly, each of these strategies reduces bodyweight to a similar, relatively limited extent of roughly 3 kg over 3 to 6 months (4–6). Among pharmacologic interventions, metformin, which is indicated for the treatment of diabetes in those 10 years and older, has been studied the most (6–9). In contrast to several weight-loss agents that have been removed from the market because of potentially serious adverse events, metformin has a well-established safety profile in both adults and youths. The most frequent side effects are nausea, vomiting, and diarrhea. Lactic acidosis is extremely rare, especially in nonelderly populations and in those with creatinine levels ,1.4. The potential risk of neuropathy as a result of chronic vitamin malabsorption is easily minimized by daily multivitamin supplementation. However, previous metformin studies targeting antipsychotic-inducedweight gain have generally been small (32 to 84 participants, median555) (6–12), leading to relatively wide confidence intervals (Figure 1) and precluding mediator and moderator analyses. In this issue of the Journal, the study by Jarskog et al. (13) is the largest study to date ofmetformin in antipsychotic-treated patients (N5146). It compared 16weeks of 1,000 mg of metformin twice daily (mean final dose51,887 mg [SD5292]) with placebo in antipsychotic-treated adults. Additionally, all participants received a standardized healthy lifestyle intervention, deliverable in usual care settings. Generalizability was enhanced by including patients with a body mass index (BMI) $27 (mean534.6 [SD55.9]) independent of timing and amount of prior weight The overall weight loss is modest compared with the weight generally gained on antipsychotics, and metformin should likely only be added after a clinical trial of healthy lifestyle intervention has proven to be ineffective.
Ultrawideband Wavelength-Tunable Hybrid External-Cavity Lasers

We demonstrate two novel hybrid lasers with the same III–V ultrawideband gain medium. An hybrid III–V/Si laser and its III–V/SiO2 counterpart exhibit high fiber-coupled output power without booster semiconductor optical amplifier (up to +13 dBm for III–V/Si and +10 dBm for III–V/SiO2) and a record tuning range (respectively, 95 nm and 66 nm) over the C and L bands with side mode suppression ratio greater than 35 dB.
Gene aberration profile of tumors of adolescent and young adult females

There has been little improvement in the prognosis for adolescent and young adult (AYA) tumor patients. Hence, there is an urgent need to understand the etiology of tumor development and identify actionable gene aberrations to improve prevention and therapy. Here, 76 sporadic tumors (48 breast, 22 ovarian, and six uterine) from 76 AYA females (age range, 25–39 years) were subjected to whole exome and RNA sequencing to determine their mutational signatures and actionable gene profiles. Two individuals with breast cancer (4.2% of cases) and one with ovarian cancer (5.3% of cases) carried germline BRCA2 mutations. The two cases with breast tumors also each carried an additional deleterious germline mutation: one in TP53 and the other in CHEK2. Mutational signature analysis of the 76 tumors indicated that spontaneous deamination of 5-methylcytosine and activity of the APOBEC cytidine deaminase protein family are major causes of mutagenesis. In addition, 18 breast or ovarian tumors (18/70, 26%), including the three cases with germline BRCA2 mutations, exhibited a predominant “BRCAness” mutational signature, an indicator of functional BRCA1/BRCA2 deficiency. Actionable aberrations and high tumor mutation burdens were detected in 24 breast (50%), 17 ovarian (77%), and five uterine (83%) tumor cases. Thus, mutational processes and aberrant genes in AYA tumors are largely shared with those identified in non-AYA tumors. The efficacy of molecular targeting and immune checkpoint inhibitory therapies should be explored for both AYA and non-AYA patients.
Spectral Learning for Supervised Topic Models

Supervised topic models simultaneously model the latent topic structure of large collections of documents and a response variable associated with each document. Existing inference methods are based on variational approximation or Monte Carlo sampling, which often suffers from the local minimum defect. Spectral methods have been applied to learn unsupervised topic models, such as latent Dirichlet allocation (LDA), with provable guarantees. This paper investigates the possibility of applying spectral methods to recover the parameters of supervised LDA (sLDA). We first present a two-stage spectral method, which recovers the parameters of LDA followed by a power update method to recover the regression model parameters. Then, we further present a single-phase spectral algorithm to jointly recover the topic distribution matrix as well as the regression weights. Our spectral algorithms are provably correct and computationally efficient. We prove a sample complexity bound for each algorithm and subsequently derive a sufficient condition for the identifiability of sLDA. Thorough experiments on synthetic and real-world datasets verify the theory and demonstrate the practical effectiveness of the spectral algorithms. In fact, our results on a large-scale review rating dataset demonstrate that our single-phase spectral algorithm alone gets comparable or even better performance than state-of-the-art methods, while previous work on spectral methods has rarely reported such promising performance.
Metabolic Syndrome Among Asian Indians in the United States

Introduction: Metabolic syndrome (MetS), a clustering of cardiometabolic risk factors of type 2 diabetes and cardiovascular disease, disproportionately affects Asian Indians (AIs). We examined prevalence of MetS using 3 ethnicity-specific MetS criteria among immigrant AIs in the United States. We also examined associations between MetS and health promotion behaviors. Objective: To present MetS prevalence estimates by the 3 ethnicity-specific criteria and investigate differences in health promotion behaviors among AIs with and without MetS to highlight the critical need for lifestyle modification strategies for this population. Design: We analyzed data from a national cross-sectional study of 1037 AIs in the United States (2004-2006). We used the consensus criteria, International Diabetes Federation criteria, and modified criteria to estimate MetS prevalence. The Health Promotion Lifestyle Profile II scale measured health promotion behaviors. Bioclinical data (fasting blood glucose, triglyceride levels) were collected. Directed acyclic graphs and Likelihood Ratio Test assisted with model selection. Multiple imputation inference incorporated uncertainty due to missing data and made use of all available data. Adjusted multivariable logistic regression analysis tested for associations. Results: Out of all participants, 40.3% met the consensus criteria, 34.8% met the International Diabetes Federation criteria, and 52.5% met the modified criteria. We found no statistically significant associations between engagement in health promotion measures and the prevalence of MetS and its criteria. Conclusion: Our study confirmed the high prevalence of MetS in the immigrant AI population in the United States. Our results showed that AIs with MetS did not exhibit an increased level of engagement in health promotion behaviors. We recommend continued refining of criteria for diagnosis and culturally suitable, age-appropriate strategies to increase engagement in healthier lifestyles among this high-risk population.
Whisker and Nose Tactile Sense Guide Rat Behavior in a Skilled Reaching Task

Skilled reaching is a complex movement in which a forelimb is extended to grasp food for eating. Video-recordings analysis of control rats enables us to distinguish several components of skilled reaching: Orient, approaching the front wall of the reaching box and poking the nose into the slot to locate the food pellet; Transport, advancing the forelimb through the slot to reach-grasp the pellet; and Withdrawal of the grasped food to eat. Although food location and skilled reaching is guided by olfaction, the importance of whisker/nose tactile sense in rats suggests that this too could play a role in reaching behavior. To test this hypothesis, we studied skilled reaching in rats trained in a single-pellet reaching task before and after bilateral whisker trimming and bilateral infraorbital nerve (ION) severing. During the task, bilaterally trimmed rats showed impaired Orient with respect to controls. Specifically, they detected the presence of the wall by hitting it with their nose (rather than their whiskers), and then located the slot through repetitive nose touches. The number of nose touches preceding poking was significantly higher in comparison to controls. On the other hand, macrovibrissae trimming resulted in no change in reaching/grasping or withdrawal components of skilled reaching. Bilaterally ION-severed rats, displayed a marked change in the structure of their skilled reaching. With respect to controls, in ION-severed rats: (a) approaches to the front wall were significantly reduced at 3–5 and 6–8 days; (b) nose pokes were significantly reduced at 3–5 days, and the slot was only located after many repetitive nose touches; (c) the reaching-grasping-retracting movement never appeared at 3–5 days; (d) explorative paw movements, equal to zero in controls, reached significance at 9–11 days; and (e) the restored reaching-grasping-retracting sequence was globally slower than in controls, but the success rate was the same. These findings strongly indicate that whisker trimming affected Orient, but not the reaching-grasping movement, while ION severing impaired both Orient (persistently) and reaching-grasping-retracting (transiently, for 1–2 weeks) components of skilled reaching in rats.
MUTATIONAL CONTRIBUTIONS TO GENETIC VARIANCE‐COVARIANCE MATRICES: AN EXPERIMENTAL APPROACH USING INDUCED MUTATIONS IN ARABIDOPSIS THALIANA

Genetic potential for evolutionary change and covariational constraints are typically summarized as the genetic variance‐covariance matrix G, and there is currently debate over the extent to which G remains effectively constant during the course of adaptive evolution. However, G provides only a temporally restricted view of constraints that ignores possible biases in how new mutations affect multivariate phenotypes. We used chemical mutagenesis to study the effect of mutations as summarized by the mutational covariance matrix, M, in Arabidopsis thaliana. By introducing mutations into three isogenic strains of A. thaliana, we were able to quantify M directly as the genetic variance‐covariance matrix of mutagenized lines. Induced mutations generally did not alter the means of the six morphology and life‐history traits we measured, but they did affect the levels of available genetic variation and the covariances among traits. However, these effects were not consistent among the three isogenic lines; that is, there were significant differences among the lines in both the number of mutations produced by ethyl‐methane‐sulfonate treatment and the M matrices they induced. The evolutionary implications of the dependence of M on the number of mutations, the particular genetic background, and the mutagenic sampling of loci in the genome are discussed in light of commonly applied models of multivariate evolution and the potential for the genetic architecture itself to change in ways that facilitate the coordinated evolution of complex phenotypes.
MQSim: A Framework for Enabling Realistic Studies of Modern Multi-Queue SSD Devices

Solid-state drives (SSDs) are used in a wide array of computer systems today, including in datacenters and enterprise servers. As the I/O demands of these systems continue to increase, manufacturers are evolving SSD architectures to keep up with this demand. For example, manufacturers have introduced new high-bandwidth interfaces to replace the conventional SATA host-interface protocol. These new interfaces, such as the NVMe protocol, are designed specifically to enable the high amounts of concurrent I/O bandwidth that SSDs are capable of delivering. While modern SSDs with sophisticated features such as the NVMe protocol are already on the market, existing SSD simulation tools have fallen behind, as they do not capture these new features. We find that state-of-the-art SSD simulators have three shortcomings that prevent them from accurately modeling the performance of real off-the-shelf SSDs. First, these simulators do not model critical features of new protocols (e.g., NVMe), such as their use of multiple application-level queues for requests and the elimination of OS intervention for I/O request processing. Second, these simulators often do not accurately capture the impact of advanced SSD maintenance algorithms (e.g., garbage collection), as they do not properly or quickly emulate steady-state conditions that can significantly change the behavior of these algorithms in real SSDs. Third, these simulators do not capture the full end-to-end latency of I/O requests, which can incorrectly skew the results reported for SSDs that make use of emerging non-volatile memory technologies. By not accurately modeling these three features, existing simulators report results that deviate significantly from real SSD performance. In this work, we introduce a new simulator, called MQSim, that accurately models the performance of both modern SSDs and conventional SATA-based SSDs. MQSim faithfully models new high-bandwidth protocol implementations, steady-state SSD conditions, and the full end-to-end latency of requests in modern SSDs. We validate MQSim, showing that it reports performance results that are only 6%-18% apart from the measured actual performance of four real state-of-the-art SSDs. We show that by modeling critical features of modern SSDs, MQSim uncovers several real and important issues that were not captured by existing simulators, such as the performance impact of inter-flow interference. We have released MQSim as an open-source tool, and we hope that it can enable researchers to explore directions in new and different areas.
Robust Predictive Control for Direct-Driven Surface-Mounted Permanent-Magnet Synchronous Generators Without Mechanical Sensors

In this paper, an extended Kalman filter (EKF) is employed to estimate stator currents, rotor speed, rotor position, and mechanical torque of a direct-driven surface-mounted permanent-magnet synchronous generator (PMSG) based variable-speed wind turbine systems controlled by a robust predictive deadbeat (DB) algorithm. Therefore, the flux-oriented control of the PMSG is realized without mechanical sensors (i.e., no position encoders or speed transducers). The estimated stator currents are fed back to the prediction model in order to compensate the one-step delay caused by the digital controller and to reduce the total harmonic distortion of the stator currents. Thus, the torque ripples are also reduced. Furthermore, a simple disturbance observer is presented, which estimates the perturbations caused by parameter variations of the PMSG or by any unmodeled dynamics in order to enhance the robustness of the proposed DB algorithm. The proposed scheme is experimentally validated using a 14.5-kW PMSG and a dSPACE DS1007 real-time platform. Its performance is compared with that of the conventional DB control strategy for all operation conditions and under parameter variations of the PMSG.
Local functional connectivity suggests functional immaturity in children with attention‐deficit/hyperactivity disorder

Previous studies have associated Attention‐Deficit/Hyperactivity Disorder (ADHD) with a maturational lag of brain functional networks. Functional connectivity of the human brain changes from primarily local to more distant connectivity patterns during typical development. Under the maturational lag hypothesis, we expect children with ADHD to exhibit increased local connectivity and decreased distant connectivity compared with neurotypically developing (ND) children. We applied a graph‐theory method to compute local and distant connectivity levels and cross‐sectionally compared them in a sample of 120 children with ADHD and 120 age‐matched ND children (age range = 7–17 years). In addition, we measured if potential group differences in local and distant connectivity were stable across the age range considered. Finally, we assessed the clinical relevance of observed group differences by correlating the connectivity levels and ADHD symptoms severity separately for each group. Children with ADHD exhibited more local connectivity than age‐matched ND children in multiple brain regions, mainly overlapping with default mode, fronto‐parietal and ventral attentional functional networks (p < .05‐ threshold free‐cluster enhancement–family‐wise error). We detected an atypical developmental pattern of local connectivity in somatomotor regions, that is, decreases with age in ND children, and increases with age in children with ADHD. Furthermore, local connectivity within somatomotor areas correlated positively with clinical severity of ADHD symptoms, both in ADHD and ND children. Results suggest an immature functional state of multiple brain networks in children with ADHD. Whereas the ADHD diagnosis is associated with the integrity of the system comprising the fronto‐parietal, default mode and ventral attentional networks, the severity of clinical symptoms is related to atypical functional connectivity within somatomotor areas. Additionally, our findings are in line with the view of ADHD as a disorder of deviated maturational trajectories, mainly affecting somatomotor areas, rather than delays that normalize with age.
Semantic Flow Graph: A Framework for Discovering Object Relationships in Flow Fields

Visual exploration of flow fields is important for studying dynamic systems. We introduce semantic flow graph (SFG), a novel graph representation and interaction framework that enables users to explore the relationships among key objects (i.e., field lines, features, and spatiotemporal regions) of both steady and unsteady flow fields. The objects and their relationships are organized as a heterogeneous graph. We assign each object a set of attributes, based on which a semantic abstraction of the heterogeneous graph is generated. This semantic abstraction is SFG. We design a suite of operations to explore the underlying flow fields based on this graph representation and abstraction mechanism. Users can flexibly reconfigure SFG to examine the relationships among groups of objects at different abstraction levels. Three linked views are developed to display SFG, its node split criteria and history, and the objects in the spatial volume. For simplicity, we introduce SFG construction and exploration for steady flow fields with critical points being the only features. Then we demonstrate that SFG can be naturally extended to deal with unsteady flow fields and multiple types of features. We experiment with multiple data sets and conduct an expert evaluation to demonstrate the effectiveness of our approach.
Effect of ertugliflozin on glucose control, body weight, blood pressure and bone density in type 2 diabetes mellitus inadequately controlled on metformin monotherapy (VERTIS MET)

We evaluated the efficacy and safety of ertugliflozin, an SGLT2 inhibitor, in type 2 diabetes mellitus (T2DM) inadequately controlled (HbA1c, 7.0%‐10.5%) with metformin monotherapy (≥1500 mg/d for ≥8 weeks).
High-Efficiency Single- and Dual-Band Rectifiers Using a Complex Impedance Compression Network for Wireless Power Transfer

In this paper, novel single- and dual-band complex impedance compression networks (ICNs) are proposed and applied to the design of rectifying circuits for efficiency improvement. The proposed ICNs are connected to the microwave input of two parallel subrectifiers. They reduce the variation ranges of the rectifier input impedance, which change with input power. Thus, the loss due to impedance mismatch is reduced, and high conversion efficiency can be obtained over wider input power ranges. Compared with the resistance compression networks (RCNs), the proposed ICNs are able to compress the variation range of the complex impedance, rather than that of the resistance, featuring design flexibility. A detailed analysis is carried out. For demonstration, a 2.45-GHz rectifier and a dual-band rectifier working at 2.45 and 5.8 GHz for the industrial, scientific, and medical band are implemented based on the ICN. The experimental results show that, in comparison to the counterparts without the ICN, the proposed rectifiers with the ICN can improve the efficiency at low input power levels without degrading the maximum conversion efficiency. Besides, the ICN-based rectifiers have a much simpler circuit structure than the RCN-based rectifiers.