Miracle-dz/UniFAR-FTUs huggingface dataset:
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations

Oculocutaneous albinism (OCA) is an autosomal‐recessive disorder of a defective melanin pathway. The condition is characterized by hypopigmentation of hair, dermis, and ocular tissue. Genetic studies have reported seven nonsyndromic OCA genes, among which Pakistani OCA families mostly segregate TYR and OCA2 gene mutations. Here in the present study, we investigate the genetic factors of eight consanguineous OCA families from Pakistan. Genetic analysis was performed through single‐nucleotide polymorphism (SNP) genotyping (for homozygosity mapping), whole exome sequencing (for mutation identification), Sanger sequencing (for validation and segregation analysis), and quantitative PCR (qPCR) (for copy number variant [CNV] validation). Genetic mapping in one family identified a novel homozygous deletion mutation of the entire TYRP1 gene, and a novel deletion of exon 19 in the OCA2 gene in two apparently unrelated families. In three further families, we identified homozygous mutations in TYR (NM_000372.4:c.1424G > A; p.Trp475*), NM_000372. 4:c.895C > T; p.Arg299Cys), and SLC45A2 (NM_016180:c.1532C > T; p.Ala511Val). For the remaining two families, G and H, compound heterozygous TYR variants NM_000372. 4:c.1037‐7T > A, NM_000372. 4:c.1255G > A (p.Gly419Arg), and NM_000372. 4:c.1255G > A (p.Gly419Arg) and novel variant NM_000372. 4:c.248T > G; (p.Val83Gly), respectively, were found. Our study further extends the evidence of TYR and OCA2 as genetic mutation hot spots in Pakistani families. Genetic screening of additional OCA cases may also contribute toward the development of Pakistani specific molecular diagnostic tests, genetic counseling, and personalized healthcare.
Model-free and model-based learning processes in the updating of explicit and implicit evaluations

Significance Explicit (i.e., self-reported) and implicit (i.e., indirectly measured) evaluations are central to organizing social cognition and drive behavior in intergroup relations, consumer choice, psychopathology, and close relationships. Here we use a distinction rooted in animal learning and now formalized in computer science to show that explicit evaluations are responsive to model-free and model-based reinforcement learning, whereas implicit evaluations are sensitive to the former but impervious to the latter. This result, which demonstrates a partial dissociation in computations underlying explicit vs. implicit evaluations, accounts for a wide range of existing findings and productively generates predictions for future research. Moreover, it suggests that enduring change in implicit evaluations may be achieved via retraining model-free value representations across a number of different contexts. Evaluating stimuli along a good–bad dimension is a fundamental computation performed by the human mind. In recent decades, research has documented dissociations and associations between explicit (i.e., self-reported) and implicit (i.e., indirectly measured) forms of evaluations. However, it is unclear whether such dissociations arise from relatively more superficial differences in measurement techniques or from deeper differences in the processes by which explicit and implicit evaluations are acquired and represented. The present project (total N = 2,354) relies on the computationally well-specified distinction between model-based and model-free reinforcement learning to investigate the unique and shared aspects of explicit and implicit evaluations. Study 1 used a revaluation procedure to reveal that, whereas explicit evaluations of novel targets are updated via model-free and model-based processes, implicit evaluations depend on the former but are impervious to the latter. Studies 2 and 3 demonstrated the robustness of this effect to (i) the number of stimulus exposures in the revaluation phase and (ii) the deterministic vs. probabilistic nature of initial reinforcement. These findings provide a framework, going beyond traditional dual-process and single-process accounts, to highlight the context-sensitivity and long-term recalcitrance of implicit evaluations as well as variations in their relationship with their explicit counterparts. These results also suggest avenues for designing theoretically guided interventions to produce change in implicit evaluations.
Comparison of the Pharmacokinetic Properties of Naloxone Following the Use of FDA‐Approved Intranasal and Intramuscular Devices Versus a Common Improvised Nasal Naloxone Device

For more than a decade, first responders and the general public have been able to treat suspected opioid overdoses using an improvised nasal naloxone device (INND) constructed from a prefilled syringe containing 2 mg of naloxone (1 mg/mL) attached to a mucosal atomization device. In recent years, the U.S. Food and Drug Administration (FDA)–approved Ezvio, an autoinjector that delivers 2 mg by intramuscular injection and Narcan nasal spray (2‐ and 4‐mg strengths; 0.1 mL/dose) for the emergency treatment of a known or suspected opioid overdose. The present study was conducted to compare the pharmacokinetics of naloxone using the FDA‐approved devices (each administered once) and either 1 or 2 administrations using the INND. When naloxone was administered twice using the improvised device, the doses were separated by 2 minutes. The highest maximum plasma concentration was achieved using the 4‐mg FDA‐approved spray. The highest exposures at 5 minutes postdose, based on AUC values, were after administration with the autoinjector and the 4‐mg FDA‐approved spray; at 10, 15, and 20 minutes postdose, the latter yielded the greatest exposure. Even after 2 administrations, the INND failed to achieve naloxone plasma levels comparable to the FDA‐approved devices at any time. The ease of use and higher plasma concentrations achieved using the 4‐mg FDA‐approved spray, compared with the INND, should be considered when deciding which naloxone device to use.
An Automated Microfluidic System for Morphological Measurement and Size-Based Sorting of C. Elegans

This paper reports a vision-based automated microfluidic system for morphological measurement and size-based sorting of the nematode worm C. elegans. Exceeding the capabilities of conventional worm sorting microfluidic devices purely relying on passive sorting mechanisms, our system is capable of accurate measurement of the worm length/width and active sorting of worms with the desired sizes from a mixture of worms with different body sizes. This function is realized based on the combination of real-time, vision-based worm detection and sizing algorithms and automated on-chip worm manipulation. A double-layer microfluidic device with computer-controlled pneumatic valves is developed for sequential loading, trapping, vision-based sizing, and sorting of single worms. To keep the system operation robust, vision-based algorithms on detecting multi-worm loading and worm sizing failure have also been developed. We conducted sorting experiments on 319 worms and achieved an average sorting speed of 10.4 worms per minute (5.8 s/worm) with an operation success rate of 90.3%. This system will facilitate the worm biology studies where body size measurement and size-based sorting of many worms are needed.
V 5116 SGR , AN ECLIPSING SUPERSOFT POST-OUTBURST NOVA ?

V5116 Sgr (Nova Sgr 2005 No. 2), discovered on 2005 July 4, was observed with XMM-Newton in March 2007, 20 months after the optical outburst. The X-ray spectrum shows that the nova had evolved to a pure supersoft X-ray source, with no significant emission at energies above 1 keV. The X-ray light-curve shows abrupt decreases and increases of the flux by a factor ∼ 8. It is consistent with a periodicity of 2.97 h, the orbital period suggested by Dobrotka et al. (2007), although the observation lasted just a little more than a whole period. We estimate the distance to V5116 Sgr to be 11±3 kpc. A simple blackbody model does not fit correctly the EPIC spectra, with χ ν > 4. In contrast, ONe rich white dwarf atmosphere models provide a good fit, with NH = 1.3(±0.1) × 10 21 cm, T = 6.1(±0.1)× 10 K, and L = 3.9(±0.8)× 10(D/10 kpc)erg s (during the high-flux periods). This is consistent with residual hydrogen burning in the white dwarf envelope. The white dwarf atmosphere temperature is the same both in the low and the high flux periods, ruling out an intrinsic variation of the X-ray source as the origin of the flux changes. We speculate that the X-ray light-curve may result from a partial coverage by an asymmetric accretion disk in a high inclination system. Subject headings: stars: novae, cataclysmic variables — X-rays: individual (V5116 Sgr)
Passive Whole-Body Control for Quadruped Robots: Experimental Validation Over Challenging Terrain

We present experimental results using a passive whole-body control approach for quadruped robots that achieves dynamic locomotion while compliantly balancing the robot's trunk. We formulate the motion tracking as a quadratic program that takes into account the full robot rigid body dynamics, the actuation limits, the joint limits, and the contact interaction. We analyze the controller's robustness against inaccurate friction coefficient estimates and unstable footholds, as well as its capability to redistribute the load as a consequence of enforcing actuation limits. Additionally, we present practical implementation details gained from the experience with the real platform. Extensive experimental trials on the 90 kg hydraulically actuated quadruped robot validate the capabilities of this controller under various terrain conditions and gaits. The proposed approach is superior for accurate execution of highly dynamic motions with respect to the current state of the art.
Programming and Reasoning with Guarded Recursion for Coinductive Types

We present the guarded lambda-calculus, an extension of the simply typed lambda-calculus with guarded recursive and coinductive types. The use of guarded recursive types ensures the productivity of well-typed programs. Guarded recursive types may be transformed into coinductive types by a type-former inspired by modal logic and Atkey-McBride clock quantification, allowing the typing of acausal functions. We give a call-by-name operational semantics for the calculus, and define adequate denotational semantics in the topos of trees. The adequacy proof entails that the evaluation of a program always terminates. We introduce a program logic with Lob induction for reasoning about the contextual equivalence of programs. We demonstrate the expressiveness of the calculus by showing the definability of solutions to Rutten's behavioural differential equations.
Reward and emotion influence attentional bias in rapid serial visual presentation

Facial emotion constitutes an important source of information, and rapid processing of this information may bring adaptive advantages. Previous evidence suggests that emotional faces are sometimes prioritised for cognitive processing. Three experiments used an emotion-induced blindness task to examine whether this prioritisation occurs in a purely stimulus-driven fashion or whether it emerges only when the faces are task-relevant. Angry or neutral faces appeared as distractors in a rapid serial visual presentation sequence, shortly before a target that participants were required to identify. Either the emotion (Experiment 1) or gender (Experiments 2 and 3) of the distractor face indicated whether a correct/incorrect response to the target would produce reward/punishment, or not. The three experiments found that reward-related faces impaired subsequent target identification, replicating previous results. Target identification accuracy was also impaired following angry faces, compared with neutral faces, demonstrating an emotion-induced attentional bias. Importantly, this impairment was observed even when face emotion was entirely irrelevant to the participants’ ongoing task (in Experiments 2 and 3), suggesting that rapid processing of the facial emotion might arise (at least in part) from the operation of relatively automatic cognitive–perceptual processes.
Novel advances in monitoring and therapeutic approaches in idiopathic intracranial hypertension

Purpose of review The current article appraises the recent developments in idiopathic intracranial hypertension (IIH), with particular attention to novel therapeutic avenues and advanced clinical assessment and monitoring with optical coherence tomography and telemetric intracranial pressure devices. Recent findings The incidence of IIH is increasing. The first consensus guidelines for IIH have been published detailing investigation and management algorithms for adult IIH. Improved understanding, clinical assessment and monitoring are emerging with the use of optical coherence tomography. Intracranial pressure telemetry is providing unique insights into the physiology of raised intracranial pressure in IIH. There are now an increasing number of ongoing clinical trials evaluating weight loss methods and novel targeted therapies, such as 11ß-HSD1 inhibition and Glucagon-like peptide 1 (GLP-1) receptor agonists. Summary Several studies are evaluating new therapies for IIH. Monitoring techniques are advancing, aiding diagnosis and allowing the clinician to accurately evaluate changes in papilloedema and intracranial pressure.
Partially Synthetic Dataset Generated for the Testing Purposes on the Basis of Available Public Use Anonymized Microdata

: - Governments and organizations increasingly recognize huge opportunities in sharing and distribution of collected data, and research community must provide methods and algorithms for privacy-preserving data publishing. Without access to the original microdata it is impossible to estimate the quality of developed anonymization methods or to compare the classification accuracy and the computational time of various algorithms applied both on anonymized and original datasets. We propose another high-quality microdata source for testing purposes - partially synthetic dataset generated on the basis of actual public use anonymized microdata set. The original distribution of the data should be simulated in a significant extent, as well as attribute value correlations or functional dependencies. Since the synthesized data are based on published microdata sets, it is expected that hidden complex patterns within a dataset can be also preserved.
Working Paper No . 924 Induced Shifting Involvements and Cycles of Growth and Distribution by Michalis Nikiforos

The paper builds on the concept of (shifting) involvements, originally proposed by Albert Hirschman (2002 [1982]). However, unlike Hirschman, the concept is framed in class terms. A model is presented where income distribution is determined by the involvement of the two classes, capitalists and workers. Higher involvement by capitalists and lower involvement by workers tends to increase the profit share and vice versa. In turn, shifts in involvements are induced by the potential effect of a change in distribution on economic activity and past levels of distribution. On the other hand, as the profit share increases, the economy tends to become more wage led. The dynamics of the resulting model are interesting. The more the two classes prioritize the increase of their income share over economic activity, the more possible it is that the economy is unstable. Under the stable configuration, the most likely outcome is Polanyian predator-prey cycles, which can explain some interesting historical episodes during the 20th century. Finally, the paper discusses the possibility of conflict and cooperation within each of the distribution-led regimes.
Feature Selection Approaches In Antibody Display

Molecular diagnostics tools provide specific data that have high dimensionality due to many factors analyzed in one experiment and few records due to high costs of the experiments. This study addresses the problem of dimensionality in melanoma patient antibody display data by applying data mining feature selection techniques. The article describes feature selection ranking and subset selection approaches and analyzes the performance of various methods evaluating selected feature subsets using classification algorithms C4.5, Random Forest, SVM and Naive Bayes, which have to differentiate between cancer patient data and healthy donor data. The feature selection methods include correlation-based, consistency based and wrapper subset selection algorithms as well as statistical, information evaluation, prediction potential of rules and SVM feature selection evaluation of single features for ranking purposes.
Basal metabolic rate in Brazilian patients with type 2 diabetes: comparison between measured and estimated values

ABSTRACT Objectives: The aims of this study are to investigate which of the seven selected predictive equation for estimating basal metabolic rate (BMR) is the best alternative to indirect calorimetry (IC) and to evaluate the dietary energy intake in patients with type 2 diabetes. Subjects and methods: Twenty-one patients with type 2 diabetes participated in this diagnostic test study. Clinical and laboratorial variables were evaluated as well as body composition by absorptiometry dual X-ray emission (DXA) and BMR measured by IC and estimated by prediction equations. Dietary intake was evaluated by a quantitative food frequency questionnaire. Data were analyzed using Bland–Altman plots, paired t-tests, and Pearson's correlation coefficients. Results: Patients were 62 (48-70) years old, have had diabetes for 8 (2-36) yeas, and 52.4% were females. The mean body composition comprised a fat-free mass of 49.8 ± 9.4 kg and a fat mass of 28.3 ± 7.2 kg. The energy intake was 2134.3 ± 730.2 kcal/day and the BMR by IC was 1745 ± 315 kcal/day. There was a wide variation in the accuracy of BMR values predicted by equations when compared to IC BMR measurement. Harris-Benedict, Oxford, FAO/WHO/UNO equations produced the smallest differences to IC, with a general bias of < 8%. The FAO/WHO/UNO equation provided the best BMR prediction in comparison to measured BMR. Conclusion: In patients with type 2 diabetes, the equation of the FAO/WHO/UNO was the one closest to the BMR values as measured by IC.
Mood episodes are associated with increased cortical thinning: A longitudinal study of bipolar disorder type II

Previous studies found evidence for thinner frontotemporal cortices in bipolar disorder (BD), yet whether this represents a stable disease trait or an effect of mood episodes remains unknown. Here, we assessed the reproducibility of thinner frontotemporal cortices in BD type II, compared longitudinal changes in cortical thickness between individuals with BD type II and healthy controls (HCs), and examined the effect of mood episodes on cortical thickness change.
Self‐Assembling Proteins as High‐Performance Substrates for Embryonic Stem Cell Self‐Renewal

The development of extracellular matrix mimetics that imitate niche stem cell microenvironments and support cell growth for technological applications is intensely pursued. Specifically, mimetics are sought that can enact control over the self‐renewal and directed differentiation of human pluripotent stem cells (hPSCs) for clinical use. Despite considerable progress in the field, a major impediment to the clinical translation of hPSCs is the difficulty and high cost of large‐scale cell production under xeno‐free culture conditions using current matrices. Here, a bioactive, recombinant, protein‐based polymer, termed ZTFn, is presented that closely mimics human plasma fibronectin and serves as an economical, xeno‐free, biodegradable, and functionally adaptable cell substrate. The ZTFn substrate supports with high performance the propagation and long‐term self‐renewal of human embryonic stem cells while preserving their pluripotency. The ZTFn polymer can, therefore, be proposed as an efficient and affordable replacement for fibronectin in clinical grade cell culturing. Further, it can be postulated that the ZT polymer has significant engineering potential for further orthogonal functionalization in complex cell applications.
Local environment in biopsy better predict the pathological response to neoadjuvant chemoradiotherapy in rectal cancer

Neoadjuvant chemoradiotherapy (nCRT) followed by surgery is the standard treatment for locally advanced rectal cancer. Here, we analyzed the impact of local and systemic environments on the tumor response to preoperative chemoradiotherapy in rectal cancer. We recruited 141 patients with rectal cancer treated with nCRT. We evaluated the local tumor environment, including tumor-infiltrating lymphocytes (TILs), intratumor budding (ITB), and the systemic inflammatory environment, including the neutrophil-to-lymphocyte ratio (NLR) and C-reactive protein (CRP) level. Our finding revealed that tumor regression was significantly associated with the density of CD8+ TILs in the intraepithelial, the presence of ITB, the combination of NLR and CRP (NLR-CRP) value, and the combination of CD8+ intraepithelial TIL (iTIL) density and ITB presence. Moreover, multivariate analysis showed that only the combination of CD8+ iTILs and ITB was an independent predictive factor for the pathological response to nCRT in rectal cancer. Our finding demonstrate that the local tumor environment was a better predictor of the tumor response than the systemic environment and thus provided new insight into screening for patients who are more likely to benefit from cancer treatment.
Thermal and Structural Characterization of Geopolymer-Coated Polyurethane Foam—Phase Change Material Capsules/Geopolymer Concrete Composites

The thermal and structural performance of geopolymer-coated polyurethane foam–phase change material capsules/geopolymer concrete composites was investigated. Three groups of concrete composites were prepared. The first was pure geopolymer (GP, control sample), the second was a GP/polyurethane foam (F) concrete composite, and the third was GP-coated polyurethane foam-phase change material capsules (GP-F-PCM)/GP concrete composites. Three different percentages of foam and GP-F-PCM capsules (25%, 50%, and 75%) were used in the composites. Thermal and U-value tests were conducted for all composites to characterize their peak temperature damping and insulation performances. The addition of 75% foam has been noticed to increase the back-surface temperature by 5.9 °C compared to the control sample. This may be attributed to the degradation of foam into low molecular constituents in the presence of a strong alkali. However, a temperature drop of 12.5 °C was achieved by incorporating 75% of GP-F-PCM capsules. The addition of 50% foam as a sandwich layer between two halves of a geopolymer concrete cube is also investigated. It was found that inserting a foam layer reduced the back-surface temperature by 3.3 °C, which is still less than the reduction in the case of GP-F-PCM capsules. The compressive strength was tested to check the integrity of the prepared concrete. At 28 days of aging, the compressive strength dropped from 65.2 MPa to 9.9 MPa with the addition of 75% GP-F-PCM capsules, which is still acceptable for certain building elements (e.g., nonloadbearing exterior walls). Generally, the best results were for the GP-F-PCM composite capsules as a heat insulator.
Direct transcription solution of inequality constrained optimal control problems

Direct transcription is a popular way to solve the complex optimal control problems that arise in industry. With a direct transcription approach, the problem is fully discretized and then the discrete problem is solved numerically. Recently, it has been shown that the theory for direct transcription differs in several key ways from the theory for other approaches. These differences have implications for numerical algorithms and the interpretation of solutions to practical problems. This paper examines some of those differences.