Miracle-dz/UniFAR-FTUs huggingface dataset:
SNP-based heritability estimates of gout and its subtypes determined by genome-wide association studies of clinically defined gout

SNP-based heritability estimates of gout and its subtypes determined by genome-wide association studies of clinically defined gout Yu Toyoda , Masahiro Nakatochi , Akiyoshi Nakayama , Yusuke Kawamura , Hirofumi Nakaoka, Kenji Wakai, Keitaro Matsuo , Hirotaka Matsuo*, for the Japan Gout Genomics Consortium Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, Japan Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Aichi, Japan Human Genetics Laboratory, National Institute of Genetics, Shizuoka, Japan Department of Cancer Genome Research, Sasaki Institute, Sasaki Foundation, Tokyo, Japan Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Aichi, Japan Division of Cancer Epidemiology and Prevention, Aichi Cancer Center, Aichi, Japan Division of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Aichi, Japan *Correspondence to: Hirotaka Matsuo, Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan. E-mail: hmatsuo.ndmc@gmail.com Yu Toyoda, Masahiro Nakatochi and Akiyoshi Nakayama contributed equally to this study. See acknowledgements section for a list of the members of the Japan Gout Genomics Consortium.
Differences in the cross‐sectional area along the ankle tendons with both age and sex

Increasing age appears to influence several morphologic changes in major tendons. However, the effects of aging on the cross‐sectional area (CSA) of different ankle tendons are much less understood. Furthermore, potential differences in specific tendon regions along the length of the tendons have not been investigated in detail. Sixty healthy adult participants categorized by age as young (n = 20; mean ± SD age = 22.5 ± 4.5 years), middle‐age (n = 20; age = 40.6 ± 8. 0 years), or old (n = 20; age = 69.9 ± 9.1 years), from both sexes, were included. The tendon CSA of tibialis anterior (TA), tibialis posterior (TP), fibularis (FT), and Achilles (AT) was measured from T1‐weighted 1.5 T MR images in incremental intervals of 10% along its length (from proximal insertion) and compared between different age groups and sexes. The mean CSA of the AT was greater in the middle‐age group than both young and old participants (p < 0.01) and large effect sizes were observed for these differences (Cohen's d > 1). Furthermore, there was a significant difference in CSA in all three groups along the length of the different tendons. Region‐specific differences between groups were observed in the distal portion (90% and 100% of the length), in which the FT presented greater CSA comparing middle‐age to young and old (p < 0.05). In conclusion, (1) great magnitude of morpho‐structural differences was discovered in the AT; (2) there are region‐specific differences in the CSA of ankle tendons within the three groups and between them; and (3) there were no differences in tendon CSA between sexes.
Levodopa alters resting‐state functional connectivity more selectively in Parkinson's disease with freezing of gait

Freezing of gait (FOG) is a debilitating motor symptom of Parkinson's disease (PD). Although PD dopaminergic medication (L‐DOPA) seems to generally reduce FOG severity, its effect on neural mechanisms of FOG remains to be determined. The purpose of this study was to quantify the effect of L‐DOPA on brain resting‐state functional connectivity in individuals with FOG. Functional magnetic resonance imaging was acquired at rest in 30 individuals living with PD (15 freezers) in the ON‐ and OFF‐ medication state. A seed‐to‐voxel analysis was performed with seeds in the bilateral basal ganglia nuclei, the thalamus and the mesencephalic locomotor region. In freezers, medication‐state contrasts revealed numerous changes in resting‐state functional connectivity, not modulated by L‐DOPA in non‐freezers. In freezers, L‐DOPA increased the functional connectivity between the seeds and regions including the posterior parietal, the posterior cingulate, the motor and the medial prefrontal cortices. Comparisons with non‐freezers revealed that L‐DOPA generally normalizes brain functional connectivity to non‐freezers levels but can also increase functional connectivity, possibly compensating for dysfunctional networks in freezers. Our findings suggest that L‐DOPA could contribute to a better sensorimotor, attentional, response inhibition and limbic processing to prevent FOG when triggers are encountered but could also contribute to FOG by interfering with the processing capacity of the striatum.
One-year aerobic exercise increases cerebral blood flow in cognitively normal older adults

The impact of aerobic exercise training (AET) on cerebral blood flow (CBF) regulation remains inconclusive. This study investigated the effects of one-year progressive, moderate-to-vigorous AET on CBF, central arterial stiffness, and cognitive performance in cognitively normal older adults. Seventy-three older adults were randomly assigned to AET or stretching-and-toning (SAT, active control) intervention. CBF was measured with 2D duplex ultrasonography. Central arterial stiffness, measured by carotid β-stiffness index, was assessed with the ultrasonography and applanation tonometry. Cerebrovascular resistance (CVR) was calculated as mean arterial pressure divided by CBF. A cognitive battery was administered with a focus on memory and executive function. Cardiorespiratory fitness was measured by peak oxygen consumption ( V ˙ O2peak). One-year AET increased V ˙ O2peak and CBF and decreased CVR and carotid β-stiffness index. In the AET group, improved V ˙ O2peak was correlated with increased CBF (r = 0.621, p = 0.001) and decreased CVR (r = −0.412, p = 0.037) and carotid β-stiffness index (r = −0.478, p = 0.011). Further, increased Woodcock-Johnson recall score was associated with decreased CVR (r = −0.483, p = 0.012) and carotid β-stiffness index (r = −0.498, p = 0.008) in AET group (not in SAT group). In conclusion, one-year progressive, moderate-to-vigorous aerobic exercise training increased CBF and decreased carotid arterial stiffness and CVR which were associated with improved memory function in cognitively normal older adults.
Predictors of Non-Transport for Older Adult EMS Patients Encountered for Falls

Abstract Background Emergency medical services (EMS) encounters for falls among older adults have been linked to poor outcomes when the patient is not transported by EMS to a hospital. However, little is known regarding characteristics of this patient population. Our primary objective was to describe characteristics associated with non-transport among older adult EMS patients encountered for falls. Methods We performed a national retrospective cross-sectional study of 9-1-1 patient contacts from the 2019 ESO Data Collaborative. We included patients who had 9-1-1 encounters for ground-level falls and were aged 60 years or older. Patients residing in congregate living facilities, interfacility transports, cardiac arrests, and suspected drowning patients were excluded. Potential predictors of non-transport included patient demographics, initial vital signs, who requested 9-1-1 service, incident location, alcohol/substance use, and urbanicity. We used multivariable logistic regression to determine associations between non-transport and potential predictors. Results We identified 195,204 EMS encounters for older adults who fell in 2019, including 27,563 (14.1%) non-transports. Most patients were female (62.4%), non-Hispanic White (85.4%), and fell at a home or residence (80.4%). Greater odds of non-transport were identified among males (OR 1.37, 95% CI 1.32–1.42) and Hispanic/Latino patients (OR 1.24, 95% CI 1.14–1.35). Older age was associated with greater odds of non-transport compared to patients aged 60–69 years (70–79 [OR 1.42, 95% CI 1.35–1.49], 80–89 [OR 1.51, 95% CI 1.42–1.59], ≥90 [OR 1.45, 95% CI 1.35–1.55]). Patients residing in Census tracts with larger percentages of the population living in poverty had lower odds of non-transport compared to those in areas with ≤5% in poverty (6–15% poverty [OR 0.82, 95% CI 0.78–0.84), 15–25% poverty [OR 0.78, 95% CI 0.73–0.82], and >25% poverty [OR 0.78, 95% CI 0.72–0.84]). Conclusion Males, older age groups, and Hispanic/Latino patients had higher odds of non-transport among this population of community-dwelling adults age 60 or greater. These findings may inform development of future targeted falls-related mobile integrated health or community paramedic services and referrals to community intervention programs. Future work is needed to understand underlying patient and clinician perspectives driving non-transport decisions among these patients to better equip EMS clinicians with tools and information on tailored risk/benefit discussions.
Comparative cost‐effectiveness of neoadjuvant chemotherapy regimens for muscle‐invasive bladder cancer: Results according to VESPER data

The VESPER trial demonstrated improved progression‐free (PFS) and (preliminarily) overall survival (OS) with six cycles of neoadjuvant dose‐dense methotrexate, vinblastine, doxorubicin, and cisplatin (ddMVACx6) versus four cycles of gemcitabine and cisplatin (GCx4) before radical cystectomy (RC) for muscle‐invasive bladder cancer (MIBC), but with increased toxicity. This study compares the cost‐effectiveness of these regimens.
Pair breaking in multiorbital superconductors: An application to oxide interfaces

We investigate the impact of impurity scattering on superconductivity in an anisotropic multi-orbital model with spin-orbit coupling which describes the electron fluid at two-dimensional oxide interfaces. As the pairing mechanism is under debate, both conventional and unconventional superconducting states are analyzed. We consider magnetic and nonmagnetic spin-dependent intra- and interorbital scattering and discuss possible microscopic realizations leading to these processes. It is found that, for magnetic disorder, the unconventional superconductor is protected against interband scattering and, thus, more robust than the conventional condensate. In case of nonmagnetic impurities, the conventional superconductor is protected as expected from the Anderson theorem and the critical scattering rate of the unconventional state is enhanced by a factor of four due to the spin-orbit coupling and anisotropic masses in oxide interfaces.
Language Differences Among Individuals with Normal Cognition, Amnestic and Non-Amnestic MCI, and Alzheimer’s Disease

Abstract Objective To investigate differences in language performance among older adults with normal cognition (CN), mild cognitive impairment (MCI), and Alzheimer’s disease (ad). Owing to the conflicting literature concerning MCI, discrepancies between amnestic (aMCI) and non-amnestic MCI (naMCI) were explored in greater detail. Method The study sample was drawn from the older (>64 years) HELIAD cohort. Language performance was assessed via semantic and phonemic fluency, confrontation naming, verbal comprehension, verbal repetition as well as a composite language index. Age, sex, and education adjusted general linear models were used to quantify potential pairwise differences in language performance. Results The present analysis involved 1607 participants with CN, 146 with aMCI [46 single and 100 multi-domain aMCI], 92 with naMCI [41 single and 51 multi-domain naMCI], and 79 with ad. The mean age and education of our predominantly female (60%) participants were 73.82 (±5.43) and 7.98 (±4.93) years, respectively. MCI individuals performed between those with CN and ad, whereas participants with aMCI performed worse compared to those with naMCI, especially in the semantic fluency and verbal comprehension tasks. Discrepancies between the aMCI and naMCI groups were driven by the exquisitely poor performance of multi-domain aMCI subgroup. Conclusions Overall, individuals could be hierarchically arranged in a continuum of language impairment with the CN individuals constituting the healthy reference and naMCI, aMCI, ad patients representing gradually declining classes in terms of language performance. Exploration of language performance via separation of single from multi-domain naMCI provided a potential explanation for the conflicting evidence of previous research.
CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2

Here, we report the generation and comprehensive characterization of a knockin mouse model for the hotspot p.Arg87Cys variant of the cytoplasmic FMR1‐interacting protein 2 (CYFIP2) gene, which was recently identified in individuals diagnosed with West syndrome, a developmental and epileptic encephalopathy. The Cyfip2+/R87C mice recapitulated many neurological and neurobehavioral phenotypes of the patients, including spasmlike movements, microcephaly, and impaired social communication. Age‐progressive cytoarchitectural disorganization and gliosis were also identified in the hippocampus of Cyfip2+/R87C mice. Beyond identifying a decrease in CYFIP2 protein levels in the Cyfip2+/R87C brains, we demonstrated that the p.Arg87Cys variant enhances ubiquitination and proteasomal degradation of CYFIP2. ANN NEUROL 2023;93:155–163
Amplitude modulating frequency overrides carrier frequency in tACS‐induced phosphene percept

The amplitude modulated (AM) neural oscillation is an essential feature of neural dynamics to coordinate distant brain areas. The AM transcranial alternating current stimulation (tACS) has recently been adopted to examine various cognitive functions, but its neural mechanism remains unclear. The current study utilized the phosphene phenomenon to investigate whether, in an AM‐tACS, the AM frequency could modulate or even override the carrier frequency in phosphene percept. We measured the phosphene threshold and the perceived flash rate/pattern from 12 human subjects (four females, aged from 20–44 years old) under tACS that paired carrier waves (10, 14, 18, 22 Hz) with different envelope conditions (0, 2, 4 Hz) over the mid‐occipital and left facial areas. We also examined the phosphene source by adopting a high‐density stimulation montage. Our results revealed that (1) phosphene threshold was higher for AM‐tACS than sinusoidal tACS and demonstrated different carrier frequency functions in two stimulation montages. (2) AM‐tACS slowed down the phosphene flashing and abolished the relation between the carrier frequency and flash percept in sinusoidal tACS. This effect was independent of the intensity change of the stimulation. (3) Left facial stimulation elicited phosphene in the upper‐left visual field, while occipital stimulation elicited equally distributed phosphene. (4) The near‐eye electrodermal activity (EDA) measured under the threshold‐level occipital tACS was greater than the lowest power sufficient to elicit retinal phosphene. Our results show that AM frequency may override the carrier frequency and determine the perceived flashing frequency of AM‐tACS‐induced phosphene.
RetroMAE: Pre-Training Retrieval-oriented Language Models Via Masked Auto-Encoder

Despite pre-training’s progress in many important NLP tasks, it remains to explore effective pre-training strategies for dense retrieval. In this paper, we propose RetroMAE, a new retrieval oriented pre-training paradigm based on Masked Auto-Encoder (MAE). RetroMAE is highlighted by three critical designs. 1) A novel MAE workflow, where the input sentence is polluted for encoder and decoder with different masks. The sentence embedding is generated from the encoder’s masked input; then, the original sentence is recovered based on the sentence embedding and the decoder’s masked input via masked language modeling. 2) Asymmetric model structure, with a full-scale BERT like transformer as encoder, and a one-layer transformer as decoder. 3) Asymmetric masking ratios, with a moderate ratio for encoder: 15 30%, and an aggressive ratio for decoder: 50 70%. Our framework is simple to realize and empirically competitive: the pre-trained models dramatically improve the SOTA performances on a wide range of dense retrieval benchmarks, like BEIR and MS MARCO. The source code and pre-trained models are made publicly available at https://github.com/staoxiao/RetroMAE so as to inspire more interesting research.
Compact Post-Quantum Signatures from Proofs of Knowledge leveraging Structure for the PKP, SD and RSD Problems

The MPC-in-the-head introduced in [IKOS07] has established itself as an important paradigm to design efficient digital signatures. It has been leveraged in the Picnic scheme [CDG+ 20] that reached the third round of the NIST PQC Standardization process. It has also been used in [Beu20] to introduce the Proof of Knowledge (PoK) with Helper paradigm. This construction permits to design shorter signatures but induces a non negligible performance overhead as it uses cut-and-choose. In this paper, we introduce the PoK leveraging structure paradigm along with its associated challenge space amplification technique. Our new approach to design PoK brings some improvements over the PoK with Helper one. Indeed, we show how one can substitute the Helper in these constructions by leveraging the underlying structure of the considered problem. This approach does not suffer from the performance overhead inherent to the PoK with Helper paradigm hence offers different trade-offs between security, signature sizes and performances. We also present four new post-quantum signature schemes. The first one is based on a new PoK with Helper for the Syndrome Decoding problem. It relies on ideas from [BGKM22] and [FJR21] and improve the latter using a new technique that can be seen as performing some cut-and-choose with a meet in the middle approach. The three other signatures are based on our new PoK leveraging structure approach and as such illustrate its versatility. We provide new PoK related to the Permuted Kernel Problem (PKP), Syndrome Decoding (SD) problem and Rank Syndrome Decoding (RSD) problem. In practice, these PoK lead to comparable or shorter signatures than existing ones. Indeed, considering (public key + signature), we get sizes below 9kB for our signature related to the PKP problem, below 15kB for our signature related to the SD problem and below 7kB for our signature related to the RSD problem.
Polarized Rabi-coupled and spinor boson droplets

Self-bound quantum droplets form when the mean-field tendency of the gas to collapse is stabilized by the effectively repulsive beyond mean-field fluctuations. The beyond mean-field effects depend on Rabi-frequency $\omega_R$ and quadratic Zeeman effect $q$ for the Rabi-coupled Bose mixtures and the spinor gases, respectively. The effects of varying $\omega_R$ and $q$ on the quantum droplet have recently been examined for unpolarized Rabi-coupled Bose mixture with zero detuning $\delta = 0$ and unpolarized spinor gas with $\langle F_z \rangle=0$. In this paper, we theoretically explore the stability of the droplet phase for polarized $\delta \neq 0$ Rabi-coupled Bose mixture and $\langle F_z \rangle \neq 0$ spinor gas. We calculate the Lee-Huang-Yang corrections for both gases with polarized order parameters and obtain the phase diagram of the droplets on the parameter space of $\omega_R$-$\delta$ and $q$-$p$ for Rabi-coupled mixture and spinor gas, respectively. Finally, we highlight the similarities and differences between the two systems and discuss their experimental feasibility.
Physics-Driven Convolutional Autoencoder Approach for CFD Data Compressions

With the growing size and complexity of turbulent flow models, data compression approaches are of the utmost importance to analyze, visualize, or restart the simulations. Recently, in-situ autoencoder-based compression approaches have been proposed and shown to be effective at producing reduced representations of turbulent flow data. However, these approaches focus solely on training the model using point-wise sample reconstruction losses that do not take advantage of the physical properties of turbulent flows. In this paper, we show that training autoencoders with additional physics-informed regularizations, e.g., enforcing incompressibility and preserving enstrophy, improves the compression model in three ways: (i) the compressed data better conform to known physics for homogeneous isotropic turbulence without negatively impacting point-wise reconstruction quality, (ii) inspection of the gradients of the trained model uncovers changes to the learned compression mapping that can facilitate the use of explainability techniques, and (iii) as a performance byproduct, training losses are shown to converge up to 12x faster than the baseline model.
Spatial and Statistical Modeling of Multi-Panel Millimeter Wave Self-Interference

Characterizing self-interference is essential to the design and evaluation of in-band full-duplex communication systems. Until now, little has been understood about this coupling in full-duplex systems operating at millimeter wave (mmWave) frequencies, and it has been shown that the highly-idealized models proposed for such do not align with practice. This work presents the first spatial and statistical model of mmWave self-interference backed by measurements, enabling engineers to draw realizations that exhibit the large-scale and small-scale spatial characteristics observed in our nearly 6.5 million measurements taken at 28 GHz. Core to our model is its use of system and model parameters having real-world meaning, which facilitates its extension to systems beyond our own phased array platform through proper parameterization. We demonstrate this by collecting nearly 13 million additional measurements to show that our model can generalize to two other system configurations. We assess our model by comparing it against actual measurements to confirm its ability to align spatially and in distribution with real-world self-interference. In addition, using both measurements and our model of self-interference, we evaluate an existing beamforming-based full-duplex mmWave solution to illustrate that our model can be reliably used to design new solutions and validate the performance improvements they may offer.
THE ARAUCARIA PROJECT: THE DISTANCE TO THE CARINA DWARF GALAXY FROM INFRARED PHOTOMETRY OF RR LYRAE STARS

We obtained single-phase near-infrared (NIR) magnitudes in the J- and K-band for a sample of 33 RR Lyrae (RRL) stars in the Carina dSph galaxy. Applying different theoretical and empirical calibrations of the NIR period–luminosity–metallicity relation for RRL stars, we find consistent results and obtain a true, reddening-corrected distance modulus of 20.118 ± 0.017 (statistical) ± 0.11 (systematic) mag. This value is in excellent agreement with the results obtained in the context of the Araucaria Project from NIR photometry of red clump stars (20.165 ± 0.015) and the tip of red giant branch (20.09 ± 0.03 ± 0.12 mag in the J band, 20.14 ± 0.04 ± 0.14 mag in the K band), as well as with most independent distance determinations to this galaxy. The NIR RRL method proved to be a reliable tool for accurate distance determination at the 5% level or better, particularly for galaxies and globular clusters that lack young standard candles, like Cepheids.