Miracle-dz/UniFAR-FTUs huggingface dataset:
Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy

Objective STXBP1 mutations are associated with early onset epileptic encephalopathy (EOEE). Our aim was to explore the phenotype spectrum, clinical treatment and prognosis of STXBP1-related encephalopathy (STXBP1-E). Methods Clinical and genetic data were collected from 10 patients with STXBP1 mutations. These patients were examined and diagnosed from 2015 to 2021 at the Pediatric Department of Qilu Hospital. Blood samples were collected and sequenced by next generation sequencing and Candidate pathogenic variants were identified using Sanger sequencing in all family members. Results All of the patients showed severe epilepsy, varying degrees of intellectual disability and delayed motor. The patients developed multiple seizure types and abnormal electroencephalography (EEG) results at onset, and focal seizures were the most frequent seizure type. Among the patients, 2 were diagnosed with Ohtahara syndrome, 2 patient was diagnosed with West syndrome. The other 6 patients could not be diagnosed with any specifically recognized epilepsy syndrome. Five of the 10 patients had a history of fever with seizures, 4 of whom had eliminated intracranial infection according to the results of cerebrospinal fluid (CSF) examinations, and the other patient was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) -associated encephalitis. We identified one patient with a complete deletion of STXBP1 and 9 patients with de novo heterozygous mutations of STXBP1. Among those mutations, 4 were novel (c.56°C > T, c.1315A > T, c.751G > C, and c.554_559del), and 5 had been previously reported [c.364C > T, c.569G > A (2 cases), c.748C > T, and c.1651C > T]. For 8 of our patients, different combinations of anti-seizure medications (ASMs) led to seizure freedom. One patient with MOG antibodies in his serum obtained a poor therapeutic effect from the traditional ASMs treatment, so he had to achieve seizure-free status through vagus nerve stimulation (VNS), which had little effect on his psychomotor ability. Fortunately, in one case, patient psychomotor ability was improved through VNS. Conclusion Our study shows that STXBP1 screening should be considered in patients with neonatal seizures with intellectual disability, and frequent seizures with fever should also be considered with the STXBP1 mutation when intracranial infection is eliminated. VNS has expanded outcome measures to include behavioral and developmental function as well as seizure control.
Quantifying developmental and individual differences in spontaneous drawing completion among children

This study investigated how children's drawings can provide insights into their cognitive development. It can be challenging to quantify the diversity of children's drawings across their developmental stages as well as between individuals. This study observed children's representational drawing ability by conducting a completion task where children could freely draw on partially drawn objects, and quantitatively analyzed differences in children's drawing tendencies across age and between individuals. First, we conducted preregistered analyses, based on crowd-sourced adult ratings, to investigate the differences of drawing style with the age and autistic traits of the children, where the latter was inspired by reports of atypical drawing among children with autism spectrum disorder (ASD). Additionally, the drawings were quantified using feature representations extracted with a deep convolutional neural network (CNN), which allowed an analysis of the drawings at different perceptual levels (i.e., local or global). Findings revealed a decrease in scribbling and an increase in completion behavior with increasing age. However, no correlation between drawing behavior and autistic traits was found. The network analysis demonstrated that older children adapted to the presented stimuli in a more adult-like manner than younger children. Furthermore, ways to quantify individual differences in how children adapt to the presented stimuli are explored. Based on the predictive coding theory as a unified theory of how perception and behavior might emerge from integrating sensations and predictions, we suggest that our analyses may open up new possibilities for investigating children's cognitive development.
Human periventricular nodular heterotopia shows several interictal epileptic patterns and hyperexcitability of neuronal firing

Periventricular nodular heterotopia (PNH) is a malformation of cortical development that frequently causes drug-resistant epilepsy. The epileptogenicity of ectopic neurons in PNH as well as their role in generating interictal and ictal activity is still a matter of debate. We report the first in vivo microelectrode recording of heterotopic neurons in humans. Highly consistent interictal patterns (IPs) were identified within the nodules: (1) Periodic Discharges PLUS Fast activity (PD+F), (2) Sporadic discharges PLUS Fast activity (SD+F), and (3) epileptic spikes (ES). Neuronal firing rates were significantly modulated during all IPs, suggesting that multiple IPs were generated by the same local neuronal populations. Furthermore, firing rates closely followed IP morphologies. Among the different IPs, the SD+F pattern was found only in the three nodules that were actively involved in seizure generation but was never observed in the nodule that did not take part in ictal discharges. On the contrary, PD+F and ES were identified in all nodules. Units that were modulated during the IPs were also found to participate in seizures, increasing their firing rate at seizure onset and maintaining an elevated rate during the seizures. Together, nodules in PNH are highly epileptogenic and show several IPs that provide promising pathognomonic signatures of PNH. Furthermore, our results show that PNH nodules may well initiate seizures.
General Theory of the Plasmoid Instability

A general theory of the onset and development of the plasmoid instability is formulated by means of a principle of least time. The scaling relations for the final aspect ratio, transition time to rapid onset, growth rate, and number of plasmoids are derived, and shown to depend on the initial perturbation amplitude $\left({\hat w}_0\right)$, the characteristic rate of current sheet evolution $\left(1/\tau\right)$, and the Lundquist number $\left(S\right)$. They are not simple power laws, and are proportional to $S^{\alpha} \tau^{\beta} \left[\ln f(S,\tau,{\hat w}_0)\right]^\sigma$. The detailed dynamics of the instability is also elucidated, and shown to comprise of a period of quiescence followed by sudden growth over a short time scale.
Exclusive photoproduction of quarkonium in proton-nucleus collisions at energies available at the CERN Large Hadron Collider

In this work we investigate the coherent photoproduction of psi(1S), psi(2S) and Upsilon (1S) states in the proton-nucleus collisions in the LHC energies. Predictions for the rapidity distributions are presented using the color dipole formalism and including saturation effects that are expected to be relevant at high energies. Calculations are done at the energy 5.02 TeV and also for the next LHC run at 8.8 TeV in proton-lead mode. Discussion is performed on the main theoretical uncertainties associated to the calculations.
CORONAL AND CHROMOSPHERIC SIGNATURES OF LARGE-SCALE DISTURBANCES ASSOCIATED WITH A MAJOR SOLAR ERUPTION

We present both coronal and chromospheric observations of large-scale disturbances associated with a major solar eruption on 2005 September 7. In the Geostationary Operational Environmental Satellites/Solar X-ray Imager (SXI), arclike coronal brightenings are recorded propagating in the southern hemisphere. The SXI front shows an initially constant speed of 730 km s−1 and decelerates later on, and its center is near the central position angle of the associated coronal mass ejection (CME) but away from the flare site. Chromospheric signatures of the disturbances are observed in both Mauna Loa Solar Observatory (MLSO)/Polarimeter for Inner Coronal Studies Hα and MLSO/Chromospheric Helium I Imaging Photometer He i λ10830 and can be divided into two parts. The southern signatures occur in regions where the SXI front sweeps over, with the Hα bright front coincident with the SXI front, while the He i dark front lags the SXI front but shows a similar kinematics. Ahead of the path of the southern signatures, oscillations of a filament are observed. The northern signatures occur near the equator, with the Hα and He i fronts coincident with each other. They first propagate westward and then deflect to the north at the boundary of an equatorial coronal hole. Based on these observational facts, we suggest that the global disturbances are associated with the CME lift-off and show a hybrid nature: a mainly non-wave CME flank nature for the SXI signatures and the corresponding southern chromospheric signatures, and a shocked fast-mode coronal MHD wave nature for the northern chromospheric signatures.
GEMINI SPECTROSCOPIC SURVEY OF YOUNG STAR CLUSTERS IN MERGING/INTERACTING GALAXIES. IV. STEPHAN's QUINTET

We present a spectroscopic survey of 21 young massive clusters and complexes and one tidal dwarf galaxy (TDG) candidate in Stephan's Quintet, an interacting compact group of galaxies. All of the selected targets lie outside the main galaxies of the system and are associated with tidal debris. We find clusters with ages between a few and 125 Myr and confirm the ages estimated through Hubble Space Telescope photometry by Fedotov et al., as well as their modeled interaction history of the Quintet. Many of the clusters are found to be relatively long-lived, given their spectrosopically derived ages, while their high masses suggest that they will likely evolve to eventually become intergalactic clusters. One cluster, T118, is particularly interesting, given its age (∼125 Myr), high mass (∼2 × 106 M☉), and position in the extreme outer end of the young tidal tail. This cluster appears to be quite extended (Reff ∼ 12–15 pc) compared to clusters observed in galaxy disks (Reff ∼ 3–4 pc), which confirms an effect we previously found in the tidal tails of NGC 3256, where clusters are similarly extended. We find that star and cluster formation can proceed at a continuous pace for at least ∼150 Myr within the tidal debris of interacting galaxies. The spectrum of the TDG candidate is dominated by a young population (∼7 Myr), and, assuming a single age for the entire region, has a mass of at least 106 M☉.
The TeV blazar Markarian 421 at the highest spatial resolution

Context. High-resolution radio observations allow us to directly image the innermost region of active galactic nuclei. The Very Long Baseline Array (VLBA) data analyzed in this paper were obtained during a multiwavelength (MWL) campaign, carried out in 2011, from radio to very high energy gamma rays, on the TeV blazar Markarian 421 (Mrk 421). Aims. Our aim was to obtain information on the jet structure in Mrk 421 during the MWL campaign at the highest possible angular resolution and with high temporal frequency observations, in order to compare structural and flux density evolution with higher energy variations. Methods. We consider data obtained with the VLBA at 43 GHz through two sets of observations: one is part of a dedicated multifrequency monitoring campaign, in which we observed Mrk 421 once a month from January to December 2011 at three frequencies; the other is extracted from the Boston University monitoring program, which observes 34 blazars at 43 GHz about once per month. We model-fit the data in the visibility plane, study the proper motion of jet components, the light curve, and the spectral index of the jet features. We compare the radio data with optical light curves obtained at the Steward Observatory, considering also the optical polarization information. Results. Mrk 421 has a bright nucleus and a one-sided jet extending towards the north-west for a few parsecs. The model-fits show that brightness distribution is well described using 6–7 circular Gaussian components, four of which are reliably identified at all epochs; all components are effectively stationary except for component D, at ∼0.4 mas from the core, whose motion is, however, subluminal. Analysis of the light curve shows two different states, with the source being brighter and more variable in the first half of 2011 than in the second half. The highest flux density is reached in February. A comparison with the optical data reveals an increase of the V magnitude and of the fractional polarization simultaneous with the enhancement of the radio activity.
Fathers, Young Children and Technology: Changes in Device Use and Family Dynamics during the COVID-19 UK Lockdown

The COVID-19 2020 lockdown measures altered how families spent time together, with many fathers adopting new household roles and spending more time with their children. This paper contributes an empirical account of technology use and fatherhood during the COVID-19 pandemic, and draws implications for the design of technologies to support fathers. We outline the findings from semi-structured interviews carried out with fathers during lockdown in the UK. Initial interviews (n=19) highlighted challenges in screen viewing, family dynamics, idea generation and self-care. This informed the design of four prototype apps to enrich follow-up interviews (n=12), using these prototypes as prompts to explore the emergent challenges in more depth. The interviews identified significant changes and concerns related to technology use within the context of COVID-19, with new roles for fathers conflicting with traditional ones combined with situational stressors to amplify issues with guilt, shame and self-care related to technology use.
Capillary adhesion between elastic solids with randomly rough surfaces

I study how the contact area and the work of adhesion between two elastic solids with randomly rough surfaces depend on the relative humidity. The surfaces are assumed to be hydrophilic, and capillary bridges form at the interface between the solids. For elastically hard solids with relatively smooth surfaces, the area of real contact and therefore also the sliding friction are maximal when there is just enough liquid to fill out the interfacial space between the solids, which typically occurs for dK≈3hrms, where dK is the height of the capillary bridge and hrms the root-mean-square roughness of the (combined) surface roughness profile. For elastically soft solids, the area of real contact is maximal for very low humidity (i.e. small dK), where the capillary bridges are able to pull the solids into nearly complete contact. In both cases, the work of adhesion is maximal (and equal to 2γcosθ, where γ is the liquid surface tension and θ the liquid–solid contact angle) when , corresponding to high relative humidity.
Dust bombardment can explain the extremely elongated shape of 1I/’Oumuamua and the lack of interstellar objects

Asteroid 1I/'Oumuamua is the first observed interstellar object. Its light-curve amplitude indicates that the object is highly elongated with an axis ratio of at least 5:1. The absence of such elongated asteroids in the Solar system, as well as the apparent lack of observed interstellar objects, are intriguing problems. Here we show that 'Oumuamua may have originated as a slightly-elongated asteroid about $500\times300$ meters in size. Surface erosion, caused by interstellar dust bombardment, subsequently increased the axis ratio. Simply traveling through the interstellar medium for 0.03 to 2 Gyrs would have sufficed to give 1I its present shape. Passing through a 10 pc dust cloud with a grain density of $10^{-23} \ \mathrm{g/cm^3}$ at 50 km/s would have had a similar effect on 'Oumuamua's form. Smaller objects of around 100 meters in diameter can travel the Galactic disk for merely 30 Myrs before they are disrupted. This could explain the small number of interstellar objects observed to date.
Static patch solipsism: conformal symmetry of the de Sitter worldline

We show that the propagators of gravitons and scalar fields seen by a static patch observer in de Sitter spacetime are controlled by hidden symmetries at all frequencies. The retarded Green's function is determined by an action generated by conformal Killing vectors of de Sitter spacetime times a line. This observation uses the fact that the static patch of dS is conformal to the hyperbolic patch of AdS3 × Sd − 1. The poles of the propagators, the quasinormal frequencies, are generated by associated actions. The quasinormal mode-generating algebras capture the conformal weights more usually read off from the fields at future and past infinity. For conformally coupled scalar fields, and for gravitons in four dimensions, this algebra has an enhanced supersymmetric structure and is generated by particular conformal Killing vectors of de Sitter spacetime. We show how the worldline de Sitter propagators can be reproduced from a ‘level matched’ left- and right-moving conformal quantum mechanics with an appropriate spectrum of primary operators. Our observations are consistent with the notion that the static patch of de Sitter spacetime is dually described by a (level matched) large N worldline conformal quantum mechanics.
Conditional entropy and Landauer principle

The Landauer principle describes the minimum heat produced by an information-processing device. Recently a new term has been included in the minimum heat production: it is called conditional entropy and takes into account the microstates content of a given logic state. Usually this term is assumed to be zero in bistable symmetric systems thanks to the strong hypothesis used to derive the Landauer principle. In this paper we show that conditional entropy can be nonzero even for bistable symmetric systems and that it can be expressed as the sum of three different terms related to the probabilistic features of the device. The contribution of the three terms to conditional entropy (and thus to the minimum heat production) is then discussed for the case of bit reset.
User-Centric Privacy Controls for Smart Homes

The widespread adoption of smart home devices (SHD) has increased privacy concerns among users, yet user-friendly controls are lacking. While there is a large body of research focused on understanding privacy concerns and threat models of SHD users, there is limited research so far aimed at informing the development of privacy controls in SHDs. This paper presents the results of 25 interviews focused on characterizing the users' needs for privacy controls. Through qualitative analysis of interview data, we present 7 design factors and 32 sub-factors for the design of privacy controls in SHDs. The interview findings inform the design of a survey that was deployed to 440 adult SHD users to gain quantitative insights on privacy control requirements and to complement the interview findings. Based on the findings, we discuss a privacy control framework that guides designers towards user-centric privacy controls.
Platform-Mediated Food Delivery Work

CSCW holds a valuable set of notions and tools for future granular inquiry into the work practice on food delivery platforms and pertinent questions from the field of food delivery resonate with research agendas within CSCW. This argument is based on a synthetic literature review that identifies characteristics of food delivery work and connects them to previous scholarship within CSCW. With few exceptions, the food delivery workers in the papers included are typically young, male and of immigrant background. The work practice the papers describe typically relies on algorithmic management, flexible scheduling, pay-per-delivery, and while food delivery workers work solitarily, workers repeatedly organize in both formal and informal groups. Finally, the review shows that while these characteristics are common, the local environment where the work is done has a significant impact on the workers' practice, resulting in meaningful differences between places and platforms that should be considered. The discussion brings forth salient issues and outlines two alleys of future work.
Maternal telehealth: innovations and Hawaiʻi perspectives

Abstract Access to maternal-fetal medicine (MFM) subspecialty services is a critical part of a healthcare system that optimizes pregnancy outcomes for women with complex medical and obstetrical disorders. Healthcare services in the State of Hawaiʻi consist of a complicated patchwork of independently run community health clinics and hospital systems which are difficult for many pregnant patients to navigate. Maternal telehealth services have been identified as a solution to increase access to subspecialty prenatal services for women in rural communities or neighboring islands, especially during the COVID-19 pandemic. Telehealth innovations have been rapidly developing in the areas of remote ultrasound, hypertension management, diabetes management, and fetal monitoring. This report describes how telehealth innovations are being introduced by MFM specialists to optimize care for a unique population of high-risk patients in a remote area of the world such as Hawai‘i, as well as review currently available telemedicine technologies and future innovations.
SMA OBSERVATIONS OF CLASS 0 PROTOSTARS: A HIGH ANGULAR RESOLUTION SURVEY OF PROTOSTELLAR BINARY SYSTEMS

We present high angular resolution 1.3 mm and 850 μm dust continuum data obtained with the Submillimeter Array toward 33 Class 0 protostars in nearby clouds (distance < 500 pc), which represents so far the largest survey toward protostellar binary/multiple systems. The median angular resolution in the survey is 2. ″5, while the median linear resolution is approximately 600 AU. Compact dust continuum emission is observed from all sources in the sample. Twenty-one sources in the sample show signatures of binarity/multiplicity, with separations ranging from 50 AU to 5000 AU. The numbers of singles, binaries, triples, and quadruples in the sample are 12, 14, 5, and 2, respectively. The derived multiplicity frequency (MF) and companion star fraction (CSF) for Class 0 protostars are 0.64 ± 0.08 and 0.91 ± 0.05, respectively, with no correction for completeness. The derived MF and CSF in this survey are approximately two times higher than the values found in the binary surveys toward Class I young stellar objects, and approximately three (for MF) and four (for CSF) times larger than the values found among main-sequence stars, with a similar range of separations. Furthermore, the observed fraction of high-order multiple systems to binary systems in Class 0 protostars (0.50 ± 0.09) is also larger than the fractions found in Class I young stellar objects (0.31 ± 0.07) and main-sequence stars (⩽0.2). These results suggest that binary properties evolve as protostars evolve, as predicted by numerical simulations. The distribution of separations for Class 0 protostellar binary/multiple systems shows a general trend in which CSF increases with decreasing companion separation. We find that 67% ± 8% of the protobinary systems have circumstellar mass ratios below 0.5, implying that unequal-mass systems are preferred in the process of binary star formation. We suggest an empirical sequential fragmentation picture for binary star formation, based on this work and existing lower resolution single-dish observations.
Intrinsic exciton-state mixing and nonlinear optical properties in transition metal dichalcogenide monolayers

© 2017 American Physical Society. Optical properties of transition metal dichalcogenides monolayers are controlled by Wannier-Mott excitons forming a series of 1s,2s,2p,. hydrogen-like states. We develop the theory of the excited excitonic states energy spectrum fine structure. We predict that p- and s-shell excitons are mixed due to the specific D3h point symmetry of the transition metal dichalcogenide monolayers. Hence, both s- and p-shell excitons are active in both single- and two-photon processes, providing an efficient mechanism of second harmonic generation. The corresponding contribution to the nonlinear susceptibility is calculated.