Miracle-dz/UniFAR-FTUs huggingface dataset:
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

This work demonstrates that pathogenic variants in PISD cause mitochondrial disease and suggests a novel mechanistic link whereby impaired lipid content in the inner mitochondrial membrane alters the activity of inner mitochondrial membrane proteases. Exome sequencing of two sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene, encoding the phosphatidylserine decarboxylase enzyme that converts phosphatidylserine to phosphatidylethanolamine (PE) in the inner mitochondrial membrane (IMM). Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity. Meanwhile, as evidence for mitochondrial dysfunction, patient fibroblasts exhibited more fragmented mitochondrial networks, enlarged lysosomes, decreased maximal oxygen consumption rates, and increased sensitivity to 2-deoxyglucose. Moreover, treatment with lyso-PE, which can replenish the mitochondrial pool of PE, and genetic complementation restored mitochondrial and lysosome morphology in patient fibroblasts. Functional characterization of the PISD variants demonstrates that the maternal variant causes an alternative splice product. Meanwhile, the paternal variant impairs autocatalytic self-processing of the PISD protein required for its activity. Finally, evidence for impaired activity of mitochondrial IMM proteases suggests an explanation as to why the phenotypes of these PISD patients resemble recently described “mitochondrial chaperonopathies. ” Collectively, these findings demonstrate that PISD is a novel mitochondrial disease gene.
Music Intervention Approaches for Alzheimer’s Disease: A Review of the Literature

Music interventions have been widely adopted as a potential non-pharmacological therapy for patients with Alzheimer’s disease (AD) to treat cognitive and/or behavioral symptoms of the disease. In spite of the prevalence of such therapies, evidence for their effectiveness report mixed results in the literature. The purpose of this narrative review is to investigate the effectiveness of various intervention strategies (music therapy vs. music listening techniques) and music type used in the intervention (individualized vs. non-individualized music) on cognitive and behavioral outcomes for persons with AD. Databases were searched for studies using either active music therapy or music listening techniques over the last 10 years. These studies were in English, included persons with AD dementia, and whose protocol gathered pre- and post-intervention outcome measures. We initially identified 206 papers which were then reduced to 167 after removing duplicates. Further review yielded 13 papers which were extensively reviewed, resulting in a final sample of six papers. Our analysis of these papers suggested that, regardless of the music intervention approach, individualized music regimens provided the best outcomes for the patient. Furthermore, music listening may act as a relaxation technique and therefore provide a long-term impact for the patient, while active music therapy may acts to engage participants through social interaction and provide acute benefits. Our findings suggest that music techniques can be utilized in various ways to improve behavior and cognition.
Electrical Neuroimaging of Music Processing in Pianists With and Without True Absolute Pitch

True absolute pitch (AP), labeling of pitches with semitone precision without a reference, is classically studied using isolated tones. However, AP is acquired and has its function within complex dynamic musical contexts. Here we examined event-related brain responses and underlying cerebral sources to endings of short expressive string quartets, investigating a homogeneous population of young highly trained pianists with half of them possessing true-AP. The pieces ended regularly or contained harmonic transgressions at closure that participants appraised. Given the millisecond precision of ERP analyses, this experimental plan allowed examining whether AP alters music processing at an early perceptual, or later cognitive level, or both, and which cerebral sources underlie differences with non-AP musicians. We also investigated the impact of AP on general auditory cognition. Remarkably, harmonic transgression sensitivity did not differ between AP and non-AP participants, and differences for auditory cognition were only marginal. The key finding of this study is the involvement of a microstate peaking around 60 ms after musical closure, characterizing AP participants. Concurring sources were estimated in secondary auditory areas, comprising the planum temporale, all transgression conditions collapsed. These results suggest that AP is not a panacea to become a proficient musician, but a rare perceptual feature.
Configuration-Driven Software Debloating

With legitimate code becoming an attack surface due to the proliferation of code reuse attacks, software debloating is an effective mitigation that reduces the amount of instruction sequences that may be useful for an attacker, in addition to eliminating potentially exploitable bugs in the removed code. Existing debloating approaches either statically remove code that is guaranteed to not run (e.g., non-imported functions from shared libraries), or rely on profiling with realistic workloads to pinpoint and keep only the subset of code that was executed. In this work, we explore an alternative configuration-driven software debloating approach that removes feature-specific code that is exclusively needed only when certain configuration directives are specified---which are often disabled by default. Using a semi-automated approach, our technique identifies libraries solely needed for the implementation of a particular functionality and maps them to certain configuration directives. Based on this mapping, feature-specific libraries are not loaded at all if their corresponding directives are disabled. The results of our experimental evaluation with Nginx, VSFTPD, and OpenSSH show that using the default configuration in each case, configuration-driven debloating can remove 77% of the code for Nginx, 53% for VSFTPD, and 20% for OpenSSH, which represent a significant attack surface reduction.
Theory III: Dynamics and Generalization in Deep Networks1

The key to generalization is controlling the complexity of the network. However, there is no obvious control of complexity – such as an explicit regularization term – in the training of deep networks. We will show that a classical form of norm control – but kind of hidden – is responsible for generalization in deep networks trained with gradient descent techniques. In particular, gradient descent induces a dynamics of the normalized weights which converge for t → ∞ to a degenerate equilibrium which corresponds to the maximum margin solution. For sufficiently large but finite ρ – and thus fnite t – the dynamics converges to an hyperbolic minimum. Such dynamics is equivalent to regularized, constrained minimization which is stable and generalizes at finite time. Our approach extends some of the results of Srebro from linear networks to deep networks and provides a new perspective on the implicit bias of gradient descent. The elusive complexity control we describe is responsible, at least in part, for the puzzling empirical finding of good generalization despite overparametrization by deep networks. This material is based upon work supported by the Center for Brains, Minds and Machines (CBMM), funded by NSF STC award CCF-1231216. 1This replaces previous versions of Theory IIIa and TheoryIIIb. Theory III: Dynamics and Generalization in Deep Networks∗ Andrzej Banburski , Qianli Liao, Brando Miranda, Tomaso Poggio, Lorenzo Rosasco, Fernanda De La Torre, and Jack Hidary
Theoretical Investigation of a Highly Sensitive Refractive-Index Sensor Based on TM0 Waveguide Mode Resonance Excited in an Asymmetric Metal-Cladding Dielectric Waveguide Structure

This study proposes a highly sensitive refractive-index (RI) sensor based on a TM0 waveguide mode resonance excited in an asymmetric metal-cladding dielectric waveguide structure, where the analyte serves as the guiding layer. By scanning the wavelength at fixed angles of incidence, the reflection spectra of the sensor were obtained. The results showed that the resonance wavelength redshifted dramatically with increases in the analyte RI, which indicates that this approach can be used to sense both the resonance wavelength and the analyte RI. Based on this approach, we investigated the sensing properties, including the sensitivity and figure of merit, at fixed incident angles of 60° and 45°, at which the sensitivity of the sensor reached 7724.9 nm/RIU (refractive index units) and 1339 nm/RIU, respectively. Compared with surface plasmon resonance sensors, which are based on a similar structure, the proposed sensor can accept a more flexible range of incident angles and a wider sensing range of analyte RI. This approach thus has tremendous potential for use in numerous sensing domains, such as biochemical and medical analyses.
A survey on what Australians with upper limb difference want in a prosthesis: justification for using soft robotics and additive manufacturing for customized prosthetic hands

Abstract Purpose: Upper limb prostheses are part of a rapidly changing market place. Despite development in device design, surveys report low levels of uptake and dissatisfaction with current prosthetic design. In this study, we present the results of a survey conducted with people with upper limb difference in Australia on their use of current prostheses and preferences in a prosthetic in order to inform future prosthetic hand design. Methods: An online survey was conducted on upper limb amputees, with 27 respondents that completed the survey. The survey was a mixture of open-ended questions, ranking design features and quantitative questions on problems experienced and desired attributes of future prosthesis designs. Results: Common key issues and concerns were isolated in the survey related to the weight, manipulation and dexterity, aesthetics, sensory feedback and financial cost; each of which could be addressed by additive manufacturing and soft robotics techniques. Conclusions: The adaptability of additive manufacturing and soft robotics to the highlighted concerns of participants shows that further research into these techniques is a feasible method to improve patient satisfaction and acceptance in prosthetic hands. Implications for rehabilitation Even with recent developments and advances in prosthetic design, the needs and desires of prosthetic users are not being met with current products. The desires and needs of those with upper limb difference are diverse. Using additive manufacturing to produce prosthetics allows for mass customization of prosthetics to meet these diverse needs while reducing costs. A soft robotic approach to prosthetics can help meet the desires of reducing weight and costs, while maintaining functionality.
Developing a Novel and Convenient Model for Investigating Sweat Gland Morphogenesis from Epidermal Stem Cells

Sweat glands developed from the embryonic epidermis. To elucidate the underlying mechanisms of morphogenesis, a reliable in vitro test system for bioactive screening must be developed. Here, we described a novel and convenient model by coculturing embryonic tissue and epidermal stem cells (ESCs) using Transwell insert for evaluating the effects of soluble morphogens on sweat gland morphogenesis in vitro. Using this coculture system, morphological alteration, histological features, and specific markers were observed. Initial experiments revealed that ESCs cocultured with embryonic paw pad (EPP) tissue demonstrated glandular structure and cytokeratin 8 (K8) and cytokeratin 18 (K18) positive, while ESCs cocultured with embryonic dorsal skin demonstrated “sea snail” structure and K8, K18 negative. Moreover, bone morphogenetic protein 4 (BMP4) and epidermal growth factor (EGF) concentrations were detected in the medium of the EPP group. BMP receptor inhibitor could effectively block the ESC differentiation to sweat glands, while EGF receptor blocker did not show the effect. Our results showed clear benefits of this novel and convenient model in terms of in vitro-in vivo correlation. It was an appropriate alternative for screening of potential bioactives regulating the sweat gland morphogenesis mechanism.
Mitochondrial Dysfunction in Heart Failure With Preserved Ejection Fraction

Heart failure with preserved ejection fraction (HFpEF) is a complex syndrome with an increasingly recognized heterogeneity in pathophysiology. Exercise intolerance is the hallmark of HFpEF and appears to be caused by both cardiac and peripheral abnormalities in the arterial tree and skeletal muscle. Mitochondrial abnormalities can significantly contribute to impaired oxygen utilization and the resulting exercise intolerance in HFpEF. We review key aspects of the complex biology of this organelle, the clinical relevance of mitochondrial function, the methods that are currently available to assess mitochondrial function in humans, and the evidence supporting a role for mitochondrial dysfunction in the pathophysiology of HFpEF. We also discuss the role of mitochondrial function as a therapeutic target, some key considerations for the design of early-phase clinical trials using agents that specifically target mitochondrial function to improve symptoms in patients with HFpEF, and ongoing trials with mitochondrial agents in HFpEF.
Influence of Coating Application Methods on the Postharvest Quality of Cassava

Various modes of edible coating application vary in their coat dispersion and film formation, hence the need to determine the most effective mode of application for cassava. Edible surface coatings have been found to be effective in preserving the quality of various food products. However, there are variations in effectiveness among the different coating solutions, hence the need for optimization of the concentrations of the gums used. This study aimed at determining the most efficient coating application method on the cassava postharvest quality. Physiologically mature cassava (variety KME 1) was harvested and divided into seven portions. The various portions were coated using 1.5% xanthan gum, 1.5% xanthan/guar gum, and 2% xanthan/guar gum by both dipping and spraying method. There was no significant difference on the colour, total cyanide, ethylene production, and total phenolic content between the two application methods. The 2% xanthan/guar gum coating showed a significant difference on the dry matter content while the 1.5% xanthan gum coating had a significant difference on the respiration rate and weight loss. The 1.5 xanthan treated roots had a final dry matter content of 72.5% for the sprayed samples and 75.98% for the dipped sample while the 2% xanthan/guar gum treated roots had a final dry matter content of 64.6% and 74.1% for the dipped and sprayed root samples, respectively. The 1.5% xanthan and 2% xanthan/guar gum treated roots showed no significant difference in their action on dry matter content. The 1.5% xanthan/guar dipped and sprayed samples differed significantly on their effect on flesh firmness with final values of 35.4N and 46.1N, respectively, at 20 days after harvest. This study suggested that based on the coating solution and the parameters being observed, there generally was no varying effect of dipping and spraying methods of coating application. The choice of the efficient mode of application to use will depend on other factors such as the easiness of application.
A Simultaneous Cluster Analysis of Cognitive, Emotional, and Personality Factors and Insomnia and Sleep Quality Among Earthquake Victims

ABSTRACT Objective The current study compares the measures of sleep quality and intensity of insomnia based on the clustering analysis of variables including dysfunctional beliefs and attitudes about sleep, experiential avoidance, personality traits of neuroticism, and complications with emotion regulation among the individuals struck by an earthquake in Kermanshah Province. Methods This study is a cross-sectional study that was carried out among earthquake victims of Kermanshah Province (western Iran) in 2017. Data were gathered starting 10 days after the earthquake and lasted for 2 weeks; of 1,200 standard questionnaires distributed, 1,001 responses were received, and the analysis was performed using 999 participants. The data analysis was carried out using a cluster analysis (K-mean method). Results Two clusters were identified, and there is a significant difference between these two clusters in regard to all of the variables. The cluster with higher mean values for the selected variables shows a higher intensity of insomnia and a lower sleep quality. Conclusions Considering the current results, it can be concluded that variables of dysfunctional attitudes and beliefs about sleep, experiential avoidance, the personality traits of neuroticism, and complications with emotion regulation are able to identify the clusters where there is a significant difference in regard to sleep quality and the intensity of insomnia. (Disaster Med Public Health Preparedness. 2019;13:745–752)
First-Principle Prediction on STM Tip Manipulation of Ti Adatom on Two-Dimensional Monolayer YBr3

Scanning tunneling microscopy (STM) is an important tool in surface science on atomic scale characterization and manipulation. In this work, Ti adatom manipulation is theoretically simulated by using a tungsten tip (W-tip) in STM based on first-principle calculations. The results demonstrate the possibility of inserting Ti adatoms into the atomic pores of monolayer YBr3, which is thermodynamically stable at room temperature. In this process, the energy barriers of vertical and lateral movements of Ti are 0.38 eV and 0.64 eV, respectively, and the Ti atoms are stably placed within YBr3 by >1.2 eV binding energy. These theoretical predictions provide an insight that it is experimentally promising to manipulate Ti adatom and form artificially designed 2D magnetic materials.
Risk of intracranial complications in minor head injury: the role of loss of consciousness and posttraumatic amnesia in a multicenter observational study.

Various guidelines for minor head injury focus on patients with a Glasgow Coma Scale (GCS) score of 13-15 and loss of consciousness (LOC) or posttraumatic amnesia (PTA), while clinical management for patients without LOC or PTA is often unclear. We aimed to investigate the effect of presence and absence of LOC or PTA on intracranial complications in minor head injury. A prospective multicenter cohort study of all patients with blunt head injury and GCS score of 15 was conducted at six Dutch centers between 2015 and 2017. Five centers used the national guideline and one center used a local guideline, both based on the CHIP prediction model, to identify patients in need of a computed tomography (CT) scan. We studied the presence of traumatic findings and neurosurgical interventions in patients with and without LOC or PTA. In addition, we assessed the association of LOC and PTA with traumatic findings with logistic regression analysis and the additional predictive value of LOC and PTA compared to other risk factors in the CHIP model. Of 3914 patients, 2249 (58%) experienced neither LOC nor PTA and in 305 (8%) LOC and PTA was unknown. Traumatic findings were present in 153/1360 (11%) patients with LOC or PTA and in 67/2249 (3%) patients without LOC and PTA. Five patients without LOC and PTA had potential neurosurgical lesions and one patient underwent a neurosurgical intervention. LOC and PTA were strongly associated with traumatic findings on CT, with adjusted odds ratios of 2.9 (95%CI 2.2-3.8) and 3.5 (95%CI 2.7-4.6), respectively. To conclude, patients with minor head injury with neither LOC nor PTA are at risk of intracranial complications. Clinical guidelines should include clinical management for patients without LOC and PTA, and they should include LOC and PTA as separate risk factors rather than as diagnostic selection criteria.
Assessment of sexually transmitted disease/HIV risk among young African Americans: comparison of self-perceived and epidemiological risks utilizing ecodevelopmental theory

Background Recent advances in understanding the developmental processes associated with adolescents warrant new thinking and systematic application of key concepts of risk and protective processes. This study examined the association between epidemiological and self-perceived risks of contracting sexually transmitted diseases (STDs)/HIV among young African Americans (AAs) and the multilevel factors identified using ecodevelopmental theory. Methods A retrospective cross-sectional study was conducted on wave 1 data from the National Longitudinal Study of Adolescent Health comprising 1,619 AA youth aged 14–18 years. Epidemiological and self-perceived HIV-risk indices were developed and their associations with ecodevelopmental system parameters evaluated. Results Significant discordance (P<0.0001) in the youths’ self-perceived risk and epidemiological risk (the “gold standard”) was recorded with Cohen’s k-coefficient of 0.144 (95% CI 0.104–0.193). Adolescents who felt like talking to their mother had no trouble getting along with schoolteachers, perceived that teachers treated student fairly, experienced mother’s disapproval of their sexual debut, and had close friends who knew how to use condoms correctly, were positively related to low epidemiological risk of contracting STDs/HIV. Being older, male, and a mother’s positive attitude toward their adolescent’s use of birth control (in exosystem) were associated with high epidemiological risk of contracting STDs/HIV. Furthermore, poor connection with the mother (did not feel like talking to mother) and growing older were related to low accuracy of self-risk perception among AA youths. Conclusion The findings demonstrate the strong need to align self-perceived risk with epidemiological risk of acquiring STDs/HIV using the key multilevel ecodevelopmental system factors identified. This will require changes in relevant social attitudes and norms associated with risk measurement, and allow for a rational basis for safe health practices and behaviors among AA youths.