Miracle-dz/UniFAR-FTUs huggingface dataset:
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy

Background and Objectives Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging from mild to severe presentations manifesting with generalized weakness, as well as respiratory and bulbar involvement. There is currently not enough data regarding the progression of the disease. In this study, we present a genotypic and phenotypic spectrum of 33 patients with NM caused by NEB variants (NM-NEB) classified according to age groups and the use of ventilatory support. We focused on interventional support, genotype-phenotype correlation, and association between respiratory, bulbar, and motor systems in groups of patients stratified by age and by the use of ventilatory support (VS). Methods Clinical and genetic data from patients with NM-NEB followed up in one specialized center were collected through regular consultations. Patients were evaluated regarding motor, bulbar, and respiratory functions. Results Thirty-three patients with NM-NEB were evaluated consisting of 15 females and 18 males with an average age of 18 (±12) years and a median of 17 (±11) years. 32% of patients with NM-NEB used a G tube, 35% were not able to walk without support, and 55% needed VS. Scoliosis and dysphagia were more common among patients who used VS. Described for the first time, half of the patients presented tongue atrophy in a triple furrow pattern, and the presence of the atrophy was associated with dysphagia. Comparing the patients grouped by age, we found that, proportionally, older patients had more scoliosis and respiratory dysfunction than younger groups, suggesting the progression of the disease in these domains. In addition to that, we showed that VS use was associated with scoliosis and dysphagia. Discussion NM-NEB is a very debilitating disease. There is an association between scoliosis and respiratory dysfunction while patients using VS have more often scoliosis than the no-VS group. Triple furrow tongue atrophy is a novel and frequent finding, which is directly associated with dysphagia. Grouping patients by age suggested disease stability in motor and swallow function, but a progression in respiratory dysfunction and skeletal deformities. All observations are relevant in the management care of patients with NM.
Gazing upon a fictional ghost town: Juan Rulfo’s Comala and the convergence of dark tourism and literary tourism.

Overlooking the town of San Gabriel in Mexico stands a monument which attracts aficionados of Juan Rulfo’s novel Pedro Paramo. San Gabriel inspired the creation of the fictional Comala, a deserted town haunted by past residents. The main objective of the paper was to explore, from the conceptual perspective of lieux de imagination (Reijnders, 2011) whether some aficionados imagine that San Gabriel is Comala. Furthermore, considering the dark characteristics of Comala, the possibility that specific visitors undergo thanatopsis was also considered. A qualitative approach to the research was deemed the appropriate methodology to answer the research questions and accomplish the overall aim, hence twenty semi-structured interviews were conducted over the course of two days at the monument. The findings demonstrated that all of the participants were attracted to San Gabriel (and the monument) because it was the childhood home of Rulfo and the inspiration for Comala, while the vast majority imagined that San Gabriel transformed into Comala. Meanwhile, a smaller but significant proportion of visitors underwent a thanatological experience. It was suggested that this experience was an example of Debordian dark tourism, hence signifying that the monument is a place in which literary tourism and dark tourism occasionally converge.
Characteristics of Collapse of Rotating Isothermal Clouds

In order to solve the long-standing "centrifugal bounce or runaway" problem and also the problem of subsequent dynamical evolution, the collapse of rotating isothermal clouds has· been investigated by axisymmetric two-dimensional simulations and also by one-dimensional analysis as well as simulations in a thin disk approximation. For the initial condition, we have considered flattened configurations besides a uniform sphere. The results show that the collapse of the inner region follows a series of similar disk-like configurations nearly independent of initial and boundary conditions: The angular velocity and the column density of the disk are both proportional to (ac 2 + (U'2 )-'/2, and the equatorial density to (ac 2 + (U'2 )-', where ac is the core radius decreasing with time and (U' is the distance from the rotation axis. This similarity law arises from a competition between gravity and pressure in the core, contrary to the previous belief that centrifugal force would playa more significant role than pressure. The above form of column density shows that an axisymmetric disk cloud does undergo runaway collapse as long as it is isothermal, as was found in the simulations of Norman et al. The inner region is not very flattened (its axial ratio or flatness being about 6); hence, it is unlikely that the inner region will be subject to ring formation during the isothermal collapse. However, as for the outer envelope, whether it becomes gravitationally unstable to ring formation depends on its initial condition, i.e., the magnitudes of initial flatness and also density fluctuation. It is also shown that the above mentioned central runaway occurs only when the gas is isothermal. However, the runaway is actually stopped because the core becomes opaque and the gas is no more isothermal. It is found that the departure from isothermality gives rise to a bounce of the core and that, if the cloud is very flattened, it becomes unstable to ring formation, but otherwise it oscillates around an equilibrium state.
Noise Interference Impacts Simple and Choice Response Times during a Lower Extremity Cognitive–Motor Task

Cognitive performance is negatively affected by the presence of noise, which is seen as a distractor and a stressor, especially in hazardous occupational environments. The addition of musculoskeletal fatigue that commonly accompanies occupational work due to noise interruption can further elevate risk and compromise safety. The purpose of the study was to investigate the impact of both individual and a combination of noise interference and physical workload on simple and choice response time tasks. Sixteen healthy male and female participants (age: 20 ± 1 years; height: 169.48 ± 8.2 cm; weight: 67.93 ± 12.7 kg) performed a simple (SRT) and choice response task (CRT) with three Blazepod™ light response time systems by striking with the dominant lower extremity from a seated position while listening to noises from a construction site (65–85dB) through headphones. Participants then performed a low-intensity musculoskeletal fatigue task and completed the above measures again. Response times (RT) (ms) from three trials of SRT and CRT, both without and with noise interference, before (PRE) and after the workload (POST), were averaged, and a 2 (Noise) × 2 (workload) × 2 (task) repeated measure ANOVA and a 2 (Noise) × 2 (workload) repeated measure ANOVA were performed for SRT and CRT, respectively, using JASP at an alpha level of 0.05. Results revealed a significant interaction between workload task (p = 0.041), as well as a main effect significance for the workload (p = 0.007) and noise (p = 0.044). The main effect significance also existed for workload in SRT (p = 0.009) and for noise in CRT (p = 0.002). In SRT, RT was significantly faster during the POST fatigue measure, suggesting a possible cognitive arousal and a learning effect improvement rather than a negative fatigue effect. In both SRT and CRT, as well as individually in CRT, RT was significantly slower due to noise interruption, negatively impacting performance, especially in the more challenging CRT compared to SRT. Thus, findings from the current study suggest that the impact of noise interruption is significant when the complexity of the response task is greater, and the potential cognitive arousal due to the workload and potential learning effects may influence response time performances. Finally, a lower extremity cognitive–motor task demonstrates response time behavior similar to such upper extremity cognitive–motor tasks.
A Novel Role of the Two-Component System Response Regulator UvrY in Enterohemorrhagic Escherichia coli O157:H7 Pathogenicity Regulation

Enterohemorrhagic Escherichia coli (EHEC) O157:H7 is an important human pathogen causing severe diseases, such as hemorrhagic colitis and lethal hemolytic uremic syndrome. The signal-sensing capability of EHEC O157:H7 at specific host colonization sites via different two-component systems (TCSs) is closely related to its pathogenicity during infection. However, the types of systems involved and the regulatory mechanisms are not fully understood. Here, we investigated the function of the TCS BarA/UvrY regulator UvrY in the pathogenicity regulation of EHEC O157:H7. Our results showed that UvrY acts as a positive regulator of EHEC O157:H7 for cellular adherence and mouse colonization through the transcriptional activation of the locus for enterocyte effacement (LEE) pathogenic genes. Furthermore, this regulation is mediated by the LEE island master regulator, Ler. Our results highlight the significance of UvrY in EHEC O157:H7 pathogenicity and underline the unknown importance of BarA/UvrY in colonization establishment and intestinal adaptability during infection.
The Genetic Mechanisms Underlying the Concerted Expression of the yellow and tan Genes in Complex Patterns on the Abdomen and Wings of Drosophila guttifera

How complex morphological patterns form is an intriguing question in developmental biology. However, the mechanisms that generate complex patterns remain largely unknown. Here, we sought to identify the genetic mechanisms that regulate the tan (t) gene in a multi-spotted pigmentation pattern on the abdomen and wings of Drosophila guttifera. Previously, we showed that yellow (y) gene expression completely prefigures the abdominal and wing pigment patterns of this species. In the current study, we demonstrate that the t gene is co-expressed with the y gene in nearly identical patterns, both transcripts foreshadowing the adult abdominal and wing melanin spot patterns. We identified cis-regulatory modules (CRMs) of t, one of which drives reporter expression in six longitudinal rows of spots on the developing pupal abdomen, while the second CRM activates the reporter gene in a spotted wing pattern. Comparing the abdominal spot CRMs of y and t, we found a similar composition of putative transcription factor binding sites that are thought to regulate the complex expression patterns of both terminal pigmentation genes y and t. In contrast, the y and t wing spots appear to be regulated by distinct upstream factors. Our results suggest that the D. guttifera abdominal and wing melanin spot patterns have been established through the co-regulation of y and t, shedding light on how complex morphological traits may be regulated through the parallel coordination of downstream target genes.
Cycle length in a random function

Let X be a finite set of n points and Fn be the class of nn functions from X into X. For anyf E Fn and xo E X, the sequence, x0, xl =f(xO), x2 =f(xl), . , is eventually cyclic, i.e. there exists J and there exists 1 such that j>J implies xj = xj + 1. We will call 1 distinct points xi, xi + 1, . , xi + 1 1 a cycle if xj + 1 =f(xj) (i<j< i + l-2) and f(xi + -1) = xi. Clearly different choices of the starting value, xo, may lead to different cycles. The length of the longest cycle in a function is of interest in the generation of pseudo-random numbers [1]. We consider the expected value of the length and the mth moment of the length of the ith longest cycle where the function fe Fn is selected at random. Given f E Fn, let Y be the subset of X consisting of all the points in cycles; then f restricted to Y is a permutation. Letting a be any characteristic of the cycle structure of a functionf E Fn (e.g. a -the longest cycle is of length 1), we first find a formula relating the number of functions with characteristic a to the number of permutations with characteristic a. We then use the results of Shepp and Lloyd [2] giving asymptotic expressions for the expected values of the various moments of cycle lengths in permutations to find the asymptotic expressions for these values for functions. We say that a function f directly connects xi to xj if xj =f(xi) and that f connects xi to xj if there is a sequence of directly connected points starting with xi going to xj. Then the subset, Y, consists of just those points that are connected to themselves. We say that a subset Zc X is a tree rooted on a point xm if: (1) xm c X-Z, (2) x c Z implies x is connected to xm, and (3) no point in X-Z is connected to a point in Z. Clearly anyf E Fn connects some of the points into cycles and the remainder of the points into trees rooted on points in cycles. Let T(n, m) denote the number of ways of connecting n points into trees rooted on m of the n points. Since Cn,m is the number of ways the root points may be chosen and miT(n-m, i) is the number of ways the remaining points may be connected if exactly i of them are directly connected to the m roots, we have the recurrence relation,
A Simple Characterization of Stochastically Monotone Functions

MCKELVEY AND PAGE (1986) proved a remarkable theorem on common knowledge. Suppose n individuals start with a common prior and then form conditional probabilities of some event of interest based on their different information. If a stochastically monotone aggregate of the n conditional probabilities is common knowledge, then the assessments must be identical. We show that the aggregation of individual assessments allowed for in the theorem admits an elementary characterization: a function is stochastically monotone if and only if it is additively separable into strictly increasing components
Heat transport properties of plates with smooth and rough surfaces in turbulent thermal convection

Abstract We present an experimental study of turbulent thermal convection with smooth and rough surface plates in various combinations. A total of five cells were used in the experiments. Both the global $\mathit{Nu}$ and the $\mathit{Nu}$ for each plate (or the associated boundary layer) are measured. The results reveal that the smooth plates are insensitive to the surface (rough or smooth) and boundary conditions (i.e. nominally constant temperature or constant flux) of the other plate of the same cell. The heat transport properties of the rough plates, on the other hand, depend not only on the nature of the plate at the opposite side of the cell, but also on the boundary condition of that plate. It thus appears that, at the present level of experimental resolution, the smooth plate can influence the rough plate, but cannot be influenced by either the rough or the smooth plates. It is further found that the scaling of $\mathit{Nu}$ with $\mathit{Ra}$ for all of the smooth plates is consistent with the classical $1/ 3$ exponent. But the scaling exponent for the global $\mathit{Nu}$ for the cell with both plates being smooth is definitely less than $1/ 3$ (this result itself is consistent with all previous studies at comparable parameter range). The discrepancy between the $\mathit{Nu}$ behaviour at the whole-cell and individual-plate levels is not understood and deserves further investigation.
Dietary Walnuts Preserve Aspects of Health Span and Alter the Hippocampal Lipidome in Aged High-Fat Diet-Fed Mice

Evidence continues to accrue that aging and its diseases can be delayed by pharmacologic and dietary strategies that target the underlying hallmarks of the aging process. However, identifying simple, safe, and effective dietary strategies involving the incorporation of whole foods that may confer some protection against the aging process is also needed. Recent observational studies have suggested that nut consumption can reduce mortality risk in humans. Among these, walnuts are particularly intriguing, given their high content of n-3 fatty acids, fiber, and antioxidant and anti-inflammatory compounds. To this end, 12-month-old male CB6F1 mice were provided either a defined control low-fat diet (LFD), a control high-fat diet (HFD), or an isocaloric HFD containing 7.67% walnuts by weight (HFD + W), and measures of healthspan and related biochemical markers (n = 10–19 per group) as well as survival (n = 20 per group) were monitored. Mice provided the HFD or HFD + W demonstrated marked weight gain, but walnuts lowered baseline glucose (p < 0.05) and tended to temper the effects of HFD on liver weight gain (p < 0.05) and insulin tolerance (p = 0.1). Additional assays suggested a beneficial effect on some indicators of health with walnut supplementation, including preservation of exercise capacity and improved short-term working memory, as determined by Y maze (p = 0.02). However, no effect was observed via any diet on inflammatory markers, antioxidant capacity, or survival (p = 0.2). Ingenuity Pathway Analysis of the hippocampal transcriptome identified two processes predicted to be affected by walnuts and potentially linked to cognitive function, including estrogen signaling and lipid metabolism, with changes in the latter confirmed by lipidomic analysis. In summary, while walnuts did not significantly improve survival on a HFD, they tended to preserve features of healthspan in the context of a metabolic stressor with aging.
CARs and Drugs: Pharmacological Ways of Boosting CAR-T-Cell Therapy

The development of chimeric antigen receptor T cells (CAR-T cells) has marked a new era in cancer immunotherapy. Based on a multitude of durable complete remissions in patients with hematological malignancies, FDA and EMA approval was issued to several CAR products targeting lymphoid leukemias and lymphomas. Nevertheless, about 50% of patients treated with these approved CAR products experience relapse or refractory disease necessitating salvage strategies. Moreover, in the vast majority of patients suffering from solid tumors, CAR-T-cell infusions could not induce durable complete remissions so far. Crucial obstacles to CAR-T-cell therapy resulting in a priori CAR-T-cell refractory disease or relapse after initially successful CAR-T-cell therapy encompass antigen shutdown and CAR-T-cell dysfunctionality. Antigen shutdown predominately rationalizes disease relapse in hematological malignancies, and CAR-T-cell dysfunctionality is characterized by insufficient CAR-T-cell proliferation and cytotoxicity frequently observed in patients with solid tumors. Thus, strategies to surmount those obstacles are being developed with high urgency. In this review, we want to highlight different approaches to combine CAR-T cells with drugs, such as small molecules and antibodies, to pharmacologically boost CAR-T-cell therapy. In particular, we discuss how certain drugs may help to counteract antigen shutdown and CAR-T-cell dysfunctionality in both hematological malignancies and solid tumors.
On subordinacy and spectral multiplicity for a class of singular differential operators

The spectral multiplicity of self-adjoint operators H associated with singular differential expressions of the form is investigated. Based on earlier work of I. S. Kac and recent results on subordinacy, complete sets of necessary and sufficient conditions for the spectral multiplicity to be one or two are established in terms of: (i) the boundary behaviour of Titchmarsh–Weyl m-functions, and (ii) the asymptotic properties of solutions of Lu = λu, λ∈ℝ, at the endpoints a and b. In particular, it is shown that H has multiplicity two if and only if L is in the limit point case at both a and b and the set of all λ for which no solution of Lu = λu is subordinate at either a or b has positive Lebesgue measure. The results are completely general, subject only to minimal restrictions on the coefficients p(r), q(r)and w(r), and the assumption of separated boundary conditions when L is in the limit circle case at both endpoints.
Two-dimensional electromagnetic model of a microwave plasma reactor operated by an axial injection torch

This paper presents a two-dimensional electromagnetic model for a microwave (2.45 GHz) plasma reactor operated by an axial injection torch. The model solves Maxwell’s equations, adopting a harmonic time description and considering the collision dispersion features of the plasma. Perfect-conductor boundary conditions are satisfied at the reactor walls, and absorbing boundary conditions are used at the open end of the coaxial waveguide powering the system. Simulations yield the distribution of the electromagnetic fields and the average power absorbed by the system for a given spatial profile of the plasma density (tailored from previous experimental measurements), with maximum values in the range 1014−1015 cm−3. Model results reveal that the system exhibits features similar to those of an air-filled, one-end-shorted circular metal waveguide, supporting evanescent or oscillatory solutions for radial dimensions below or above a critical radius, respectively. Results also show that the fractional average power.
The psychosocial experiences of healthcare workers (HCWs) during COVID-19 quarantine: a qualitative study

Purpose Healthcare workers (HCWs) are more than others likely to be exposed to a viral overload regardless of the protective equipment and systems. Recent studies have reported that quarantine time is stressful for healthcare workers. We explored the impact of quarantine time as an external stressor on distress, sleep, healthy lifestyle behaviors, and familial relations among HCWs during the COVID-19 pandemic. Methods A surgery team (n = 12) were working on a patient with confirmed thyroid cancer. This team was quarantined for 14 days as per the criteria of the local health government after the patient tested positive for COVID-19. We included and interviewed this team through a purposive technique in this qualitative study in Iraqi Kurdistan in 2020. Using the Graneheim and Lundman method, we analyzed the data via thematic content analysis with a deductive approach. Results The participants experienced distress with mental health burdens during these difficult times. Some of them had to stay away from their families and friends for the first time. The first and last days were stressful for them due to fear of infection. The HCWs attempted to maintain their healthy lifestyles, including getting sufficient sleep, reducing stress levels, and creating a positive relationship with their families. The HCWs used the following coping strategies to alleviate the effects of COVID-19: beliefs, habits, and familial support. Familial and social support were their main strategies for maintaining a healthy lifestyle. The intensity level of familial and social relations was found to be a positive experience for HCWs during this stressful period. Conclusions This study showed that HCWs experienced psychological stress during the quarantine time of the COVID-19 outbreak. The HCWs’ quality of sleep was affected adversely along with negative effects on their lifestyles. However, the level of support from familial and social relations increased during the COVID-19 outbreak. This was the major means for them to deal with stress during this difficult time of their lives.