Miracle-dz/UniFAR-FTUs huggingface dataset:
Clinical Presentation and Features of Juvenile-Onset Huntington's Disease: A Systematic Review.

BACKGROUND Juvenile-onset Huntington's disease (JHD) is defined by onset at the age of 20 or younger and represents approximately 5% of all HD cases. Patients with JHD present with a broad range of symptoms and signs that only overlap partially with adult-onset HD. A greater awareness and understanding of the presentation of JHD would improve the diagnosis and treatment of this condition. OBJECTIVE To undertake a systematic review of the literature relating to the clinical features at first presentation of JHD. METHODS We searched MEDLINE and EMBASE for all studies describing presenting features of JHD patients, performed quality control, and collated and analysed the data. RESULTS We screened 2917 records for eligibility, and included 79 studies (n = 285 individuals) in the analysis. All were case reports and case series, synthesising data from 25 different countries. Thirty-four different clinical features at presentation were identified. Four groups of symptoms or signs were present in more than 15% of cases: behavioural disturbance, falls/gait disturbance, cognitive impairment and parkinsonian features. Where data were available, the median age of onset was 9 years, 52% were female, the mutant HTT allele was transmitted paternally in 80% of cases, and the median CAG repeat length was 64. CONCLUSIONS JHD can present with a wide variety of symptoms and signs, with non-motor characteristics being observed most frequently. Greater recognition of these presentations will facilitate early diagnosis and management. Tailored rating scales to score motor, non-motor, and functional impairments specifically in JHD are required to standardise research studies, and are under development.
Long‐term effect of NUDT15 R139C on hematologic indices in inflammatory bowel disease patients treated with thiopurine

A missense variant of the nucleoside diphosphate‐linked moiety X‐type motif 15 (NUDT15) gene (R139C) predisposes Asian patients with inflammatory bowel disease (IBD) to thiopurine‐induced leukopenia. This study evaluates the long‐term effect of NUDT15 R139C heterozygosity on hematological parameters during thiopurine administration.
Inherited and environmental influences on a childhood co-occurring symptom phenotype: Evidence from an adoption study

Abstract Risk factors for the childhood development of co-occurring internalizing and externalizing symptoms are not well understood, despite a high prevalence and poor clinical outcomes associated with this co-occurring phenotype. We examined inherited and environmental risk factors for co-occurring symptoms in a sample of children adopted at birth and their birth mothers and adoptive mothers (N = 293). Inherited risk factors (i.e., birth mothers' processing speed and internalizing symptoms) and environmental risk factors (i.e., adoptive mothers' processing speed, internalizing symptoms, and uninvolved parenting) were examined as predictors for the development of internalizing-only, externalizing-only, or co-occurring symptoms using structural equation modeling. Results suggested a unique pattern of predictive factors for the co-occurring phenotype, with risk conferred by adoptive mothers' uninvolved parenting, birth mothers' slower processing speed, and the birth mothers' slower processing speed in tandem with adoptive mothers' higher internalizing symptoms. Additional analyses indicated that when co-occurring-symptom children were incorporated into internalizing and externalizing symptom groups, differential risk factors for externalizing and internalizing symptoms emerged. The findings suggest that spurious results may be found when children with co-occurring symptoms are not examined as a unique phenotypic group.
Molecular Pathophysiology of Ossification of the Posterior Longitudinal Ligament (OPLL)

Ossification of the posterior longitudinal ligament (OPLL) can be defined as an ectopic ossification in the tissues of spinal ligament showing a hyperostotic condition. OPLL is developed mostly in the cervical spine and clinical presentations of OPLL are majorly myelopathy and/or radiculopathy, with serious neurological pathology resulting in paralysis of extremities and disturbances of motility lowering the quality of life. OPLL is known to be an idiopathic and multifactorial disease, which genetic factors and non-genetic factors including diet, obesity, physical strain on the posterior longitudinal ligament, age, and diabetes mellitus, are involved into the pathogenesis. Up to now, surgical management by decompressing the spinal cord is regarded as standard treatment for OPLL, although there might be the risk of development of reprogression of ossification. The molecular pathogenesis and efficient therapeutic strategy, especially pharmacotherapy and/or preventive intervention, of OPLL has not been clearly elucidated and suggested. Therefore, in this review, we tried to give an overview to the present research results on OPLL, in order to shed light on the potential pharmacotherapy based on molecular pathophysiologic aspect of OPLL, especially on the genetic/genomic factors involved into the etiology of OPLL.
Temporal trends and factors associated with survival after Pneumocystis carinii pneumonia in California, 1983-1992.

The authors investigated quarterly trends in survival after the diagnosis of Pneumocystis carinii pneumonia for 19,607 patients in California in the decade from January 1, 1983, through December 31, 1992. Subjects included all cases for whom P. carinii pneumonia was the initial (and only) acquired immunodeficiency syndrome (AIDS)-defining diagnosis as reported to the California human immunodeficiency virus/AIDS surveillance registry. There was a period of rapidly improving survival from approximately June 1986 until April 1988, coincident with the widespread introduction of antiretroviral therapy (zidovudine) and the institution of P. carinii pneumonia prophylaxis (with cotrimoxazole and pentamidine). There was no evidence, however, of meaningful improvements in survival for these patients after that period. The association of several covariates (risk transmission group, gender, race/ethnicity, certainty of P. carinii pneumonia diagnosis, age, region of residence, availability of CD4 count, and level of CD4 count) were also studied both by proportional hazards regression and by recursive partitioning (i.e., tree-based) survival analysis. The availability of a CD4 count (regardless of its level) was the single factor most strongly associated with survival (median survival 36 months among those with and 14 months among those without reported CD4 counts, p < 0.05). Data from this large, population-based surveillance registry of AIDS in California suggest that, despite earlier improvements in survival after the diagnosis of P. carinii pneumonia, the long-term survival of these patients remains poor (39% alive 2 years after diagnosis) and that no improvement in survival has occurred since 1988.
Prediction of Liquefaction Induced Lateral Displacements Using Plynomial Neural Networks and Genetic Algorithms

Liquefaction can cause ground subsidence, flow failure and lateral spreading among other effects. Estimation of the hazard of lateral spreading requires characterization of subsurface conditions. In this paper, the relation between liquefaction induced lateral displacements and both geotechnical and earthquake soil parameters is investigated. In order to assess the merits of the proposed approach, database containing 526 data points of liquefaction-induced lateral ground spreading case histories from eighteen different earthquakes are used from renowned references. This study addresses the question of whether Group method of data handling (GMDH) type neural networks optimized using genetic algorithms (GAs) could be used to estimate lateral displacement based on specified variables. At the end the results of this paper models are compared with those of a commonly used and the advantages of the proposed GMDH model over the conventional method are highlighted.
Low‐ and high‐dose aripiprazole augmentation and plasma levels of homovanillic acid in major depressive disorder: A randomized, open‐label study

This randomized controlled study evaluated the efficacy of low‐dose (LD) and high‐dose (HD) aripiprazole augmentation in major depressive disorder. Additionally, we examined the relationship between clinical response and changes in plasma homovanillic acid (pHVA) levels during aripiprazole augmentation.
Development and Interlaboratory Validation of Two Fast UPLC–MS-MS Methods Determining Urinary Bisphenols, Parabens and Phthalates

Abstract People are constantly exposed to a wide variety of chemicals. Some of these compounds, such as parabens, bisphenols and phthalates, are known to have endocrine disrupting potencies. Over the years, these endocrine disrupting chemicals (EDCs) have been a rising cause for concern. In this study, we describe setup and validation of two methods to measure EDCs in human urine, using ultra-performance liquid chromatography tandem mass spectrometry. The phenol method determines methyl-, ethyl-, propyl-, n-butyl- and benzylparaben and bisphenol A, F and S. The phthalate method determines in total 13 metabolites of dimethyl, diethyl, diisobutyl, di-n-butyl, di(2-ethylhexyl), butylbenzyl, diiso-nonyl and diisodecyl phthalate. Runtime was 7 and 8 min per sample for phenols and phthalates, respectively. The methods were validated by the National Institute of Standards & Technology (NIST) for 13 compounds. In addition, EDCs were measured in forty 24-h urine samples, of which 12 EDCs were compared with the same samples measured in an established facility (Rigshospitalet, Copenhagen, Denmark). The intra-assay coefficient of variability (CV) was highest at 10% and inter-assay CV was highest at 12%. Recoveries ranged from 86 to 115%. The limit of detection ranged from 0.06 to 0.43 ng/mL. Of 21 compounds, 10 were detected above limit of detection in ≥93% of the samples. Eight compounds were in accordance to NIST reference concentrations. Differences in intercept were found for two compounds whereas slope differed for six compounds between our method and that used in the Danish facility. In conclusion, we set up and validated two high-throughput methods with very short runtime capable of measuring 5 parabens, 3 bisphenols and 13 different metabolites of 8 phthalates. Sensitivity of the phenol method was increased by using ammonium fluoride in the mobile phase.
A Cartesian Compliance Controller for a Manipulator Mounted on a Flexible Structure

In this paper the Cartesian compliance control of a manipulator mounted on a flexible base is considered. The proposed control law aims at achieving a desired stiffness and damping in Cartesian coordinates while taking account of the base flexibility. The controller does not use any measurement of the base motion, however a model of the base stiffness is required. For the closed loop system, asymptotic stability in case of free motion is proven. Furthermore, considering interaction tasks, it is shown that the controlled manipulator system has a useful passivity property
Applying the COM-B Model to Assess the Usability of Smartphone-Connected Listening Devices in Adults with Hearing Loss

Abstract Background: Unlike conventional hearing aids, smartphone-connected listening devices may require limited or no input from a trained audiologist in terms of device programming and adjustment. However, there is a lack of peer-reviewed evidence assessing the real-world perspectives of people living with hearing loss toward such technological innovations. Purpose: This study assessed the everyday experiences of adults living with hearing loss toward a range of smartphone-connected listening devices using the Capability, Opportunity, Motivation, Behaviour (COM-B) model as a theoretical framework. Research Design: A qualitative study where participants trialed one of the following smartphone-connected listening devices for two weeks in their everyday lives: made-for-smartphone hearing aid, personal sound amplification product, and smartphone “hearing aid” app with wired earphones or wireless hearable. Individual semistructured interviews were conducted. Study Sample: Twenty adults (13 male and 7 female; mean age = 62.25 years, SD = 11.59) with mild-to-moderate hearing loss (mean better ear pure-tone average = 30.49 dB HL, SD = 17.51) were recruited using a convenience sampling strategy. All participants owned conventional hearing aids. Data Analysis: The data were analyzed using an established deductive thematic analysis procedure within the context of the COM-B model. The model stipulates that for individuals to engage in a particular behavior (B), they must have sufficient capability (C), opportunity (O), and motivation (M). Results: Capability: One of the key advantages facilitating use and adherence of smartphone-connected listening devices was the ability for participants to make fine-tune adjustments in any listening situation. Opportunity: Participants commented that these devices could address issues surrounding stigma as smartphones are ubiquitous in everyday life. Motivation: Participants consistently reported that the ability to make adjustments via a smartphone provided them with a greater sense of autonomy and empowerment. As a result, they felt more in control of their hearing loss. Conclusions: This study lays the foundation for further high-quality research to explore whether smartphone-connected technologies have the potential to yield optimum benefits for people living with hearing loss.
Atypical and delayed de Winter electrocardiograph pattern

Rationale: de Winter electrocardiograph (ECG) pattern signifies proximal left anterior descending coronary artery (LAD) occlusion and extensive anterior myocardial infarction, and it is found in about 2% of patients with proximal LAD occlusion. However, it is often unrecognized by physicians. In this case report, we present a patient with chest pain but showing an atypical and delayed de Winter ECG pattern. Patient concerns: A previously healthy 61-year-old man attended our emergency department with chest pain radiating to the left arm and back for 4 hours, who was without serious cardiovascular risk factors. ECG at emergency department showed no significant changes. High-sensitivity cardiac troponin I (hs-cTnI) was within normal limit. Diagnosis: At 5 hours after onset, ECG showed significant upsloping ST depression at J point in precordial leads V3 to V6, slight ST elevation in aVR and depression in inferior leads, and hs-cTnI peaked at 2.610 &mgr;g/L. The diagnosis of de Winter ECG pattern was confirmed by coronary angiography with an occlusion of the proximal LAD. Interventions: A stent was implanted through percutaneous coronary intervention. Outcomes: The patient's chest pain was relieved without further increase of hs-cTnI. ECG after procedure showed ST segment back to baseline in leads V4 to V6, but persistent ST elevation in V1 to V3 with QS or Q wave. Lessons: Timely diagnosis of de Winter ECG pattern is very important, especially the atypical and delayed ECG changes. It should be treated as ST elevation myocardial infarction equivalent and deserves emergent revascularization therapy.
Application of the Biospeckle Method for Monitoring Bull’s Eye Rot Development and Quality Changes of Apples Subjected to Various Storage Methods—Preliminary Studies

In this study, the biospeckle technique was evaluated for monitoring of apple bull’s eye rot development and product quality in general, during storage under various conditions and during subsequent shelf life. This non-destructive optical method is based on the analysis of laser light variations scattered from the sample. Apples of the cultivars ‘Pinova’ and ‘Topaz’, susceptible to bull’s eye rot, were used in two independent experiments. In the first, apples were non-destructively monitored for five months during cold storage. After that time, 34% of ‘Pinova’ and 21% of ‘Topaz’ apples displayed visible surface lesions. The increase of biospeckle activity was observed during the development of fungal disease. In the second experiment various storage conditions were used and apples were tested during their shelf life by non-destructive and destructive methods. This study showed that biospeckle activity decreased during shelf life, irrespective of storage conditions.
The bias of cosmic voids in the presence of massive neutrinos

Cosmic voids offer an extraordinary opportunity to study the effects of massive neutrinos on cosmological scales. Because they are freely streaming, neutrinos can penetrate the interior of voids more easily than cold dark matter or baryons, which makes their relative contribution to the mass budget in voids much higher than elsewhere in the Universe. In simulations it has recently been shown how various characteristics of voids in the matter distribution are affected by neutrinos, such as their abundance, density profiles, dynamics, and clustering properties. However, the tracers used to identify voids in observations (e.g., galaxies or halos) are affected by neutrinos as well, and isolating the unique neutrino signatures inherent to voids becomes more difficult. In this paper we make use of the DEMNUni suite of simulations to investigate the clustering bias of voids in Fourier space as a function of their core density and compensation. We find a clear dependence on the sum of neutrino masses that remains significant even for void statistics extracted from halos. In particular, we observe that the amplitude of the linear void bias increases with neutrino mass for voids defined in dark matter, whereas this trend gets reversed and slightly attenuated when measuring the relative void-halo bias using voids identified in the halo distribution. Finally, we argue how the original behaviour can be restored when considering observations of the total matter distribution (e.g. via weak lensing), and comment on scale-dependent effects in the void bias that may provide additional information on neutrinos in the future.
Black hole mass estimates in quasars

Context. The inter-line comparison between high- and low-ionization emission lines has yielded a wealth of information on the structure and dynamics of the quasar broad line region (BLR), including perhaps the earliest unambiguous evidence in favor of a disk + wind structure in radio-quiet quasars. Aims. We carried out an analysis of the C IVλ1549 and Hβ line profiles of 28 Hamburg-ESO high-luminosity quasars and of 48 low-z, low-luminosity sources in order to test whether the width of the high-ionization line C IVλ1549 could be correlated with Hβ and be used as a virial broadening estimator. Methods. We analyze intermediate- to high-S/N, moderate-resolution optical and near-infrared (NIR) spectra covering the redshifted C IVλ1549 and Hβ over a broad range of luminosity log L ∼ 44 − 48.5 [erg s−1] and redshift (0 − 3), following an approach based on the quasar main sequence. Results. The present analysis indicates that the line width of C IVλ1549 is not immediately offering a virial broadening estimator equivalent to Hβ. At the same time a virialized part of the BLR appears to be preserved even at the highest luminosities. We suggest a correction to FWHM(C IVλ1549) for Eddington ratio (using the C IVλ1549 blueshift as a proxy) and luminosity effects that can be applied over more than four dex in luminosity. Conclusions. Great care should be used in estimating high-L black hole masses MBH from C IVλ1549 line width. However, once a corrected FWHM C IVλ1549 is used, a C IVλ1549-based scaling law can yield unbiased MBH values with respect to the ones based on Hβ with sample standard deviation ≈0.3 dex.
Accelerated Distributed Primal-Dual Dynamics Using Adaptive Synchronization

This paper proposes an adaptive primal-dual dynamics for distributed optimization in multi-agent systems. The proposed dynamics incorporates an adaptive synchronization law that reinforces the interconnection strength between the coupled agents. By strengthening the synchronization between the primal variables of the coupled agents, the given law accelerates the convergence of the proposed dynamics to the saddle-point solution. The resulting dynamics is represented as a feedback-interconnected networked system that proves to be passive. The passivity properties of the proposed dynamics are exploited along with the LaSalle’s invariance principle for hybrid systems, to establish asymptotic convergence and stability of the saddle-point solution. Further, the primal dynamics is analyzed for the rate of convergence and stronger convergence bounds are established, it is proved that the primal dynamics achieve accelerated convergence under the adaptive synchronization. The robustness of the proposed dynamics is quantified using $L_{2}$ -gain analysis and the correlation between the rate of convergence and robustness of the proposed dynamics are presented. The effectiveness of the proposed dynamics is demonstrated by applying it to solve distributed least squares and distributed support vector machines problems.
Stabilized SVRG: Simple Variance Reduction for Nonconvex Optimization

Variance reduction techniques like SVRG provide simple and fast algorithms for optimizing a convex finite-sum objective. For nonconvex objectives, these techniques can also find a first-order stationary point (with small gradient). However, in nonconvex optimization it is often crucial to find a second-order stationary point (with small gradient and almost PSD hessian). In this paper, we show that Stabilized SVRG (a simple variant of SVRG) can find an $\epsilon$-second-order stationary point using only $\widetilde{O}(n^{2/3}/\epsilon^2+n/\epsilon^{1.5})$ stochastic gradients. To our best knowledge, this is the first second-order guarantee for a simple variant of SVRG. The running time almost matches the known guarantees for finding $\epsilon$-first-order stationary points.
Bias-preserving gates with stabilized cat qubits

Noise asymmetry in the quantum operations with cat-qubits is exploited for efficient fault-tolerant quantum error correction. The code capacity threshold for error correction using biased-noise qubits is known to be higher than with qubits without such structured noise. However, realistic circuit-level noise severely restricts these improvements. This is because gate operations, such as a controlled-NOT (CX) gate, which do not commute with the dominant error, unbias the noise channel. Here, we overcome the challenge of implementing a bias-preserving CX gate using biased-noise stabilized cat qubits in driven nonlinear oscillators. This continuous-variable gate relies on nontrivial phase space topology of the cat states. Furthermore, by following a scheme for concatenated error correction, we show that the availability of bias-preserving CX gates with moderately sized cats improves a rigorous lower bound on the fault-tolerant threshold by a factor of two and decreases the overhead in logical Clifford operations by a factor of five. Our results open a path toward high-threshold, low-overhead, fault-tolerant codes tailored to biased-noise cat qubits.