Miracle-dz/UniFAR-FTUs huggingface dataset:
A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis

Abstract A 2‐year‐old male domestic shorthair cat was presented for a progressive history of abnormal posture, behavior, and mentation. Menace response was absent bilaterally, and generalized tremors were identified on neurological examination. A neuroanatomical diagnosis of diffuse brain dysfunction was made. A neurodegenerative disorder was suspected. Magnetic resonance imaging findings further supported the clinical suspicion. Whole‐genome sequencing of the affected cat with filtering of variants against a database of unaffected cats was performed. Candidate variants were confirmed by Sanger sequencing followed by genotyping of a control population. Two homozygous private (unique to individual or families and therefore absent from the breed‐matched controlled population) protein‐changing variants in the major facilitator superfamily domain 8 (MFSD8) gene, a known candidate gene for neuronal ceroid lipofuscinosis type 7 (CLN7), were identified. The affected cat was homozygous for the alternative allele at both variants. This is the first report of a pathogenic alteration of the MFSD8 gene in a cat strongly suspected to have CLN7.
Belief in the miracles of Lourdes: A voxel‐based morphometry study

It has been shown that particular religious beliefs and practices are associated with brain function and structure. The present voxel‐based morphometry study investigated the correlation between the belief in the miracles of Lourdes (a major Catholic pilgrimage site) and gray matter volume in specific brain regions associated with theory of mind (ToM).
One Week of L-Citrulline Supplementation Improves Performance in Trained Cyclists.

Stanelle, ST, McLaughlin, KL, and Crouse, SF. One week of L-citrulline supplementation improves performance in trained cyclists. J Strength Cond Res XX(X): 000-000, 2019-L-citrulline (CIT) is a nonessential amino acid that is touted as an ergogenic aid for athletic performance because of its purported ability to stimulate nitric oxide production. Although previous research has demonstrated that CIT supplementation over a period of days improves physiological factors such as V[Combining Dot Above]O2 kinetics, no studies to date have explored whether there is a direct benefit to endurance performance. This study used a randomized, double-blind, crossover design to test whether chronic supplementation with pure CIT improves cycling performance over a maltodextrin placebo (PLAC). Nine trained male cyclists (24 ± 3 years; 181 ± 7 cm; 76 ± 13 kg; 4.18 ± 0.51 L·min V[Combining Dot Above]O2max) completed two 7-day supplementation periods (6 g·d of CIT or PLAC) separated by a 7-day washout. Subjects consumed the final 6-g dose 2 hours before the cycling performance evaluation, which consisted of a 40-km time trial (TT) followed by a supramaximal sprint repeat task (SRT). Paired t-tests and repeated-measures analysis of variance (α = 0.05) were used to analyze TT and SRT data, respectively. CIT supplementation produced an improvement in TT time of 5.2% that trended toward significance (p = 0.08). Furthermore, CIT promoted a significant increase in average heart rate, average rating of perceived exertion, and average power throughout the TT (p < 0.05). However, supplementation with CIT did not prevent fatigue during the SRT. Overall, this study is the first to demonstrate that CIT supplementation may provide a modest improvement to endurance cycling performance in trained athletes.
Comparison between the induced membrane technique and distraction osteogenesis in treating segmental bone defects: An experimental study in a rat model

Previous studies have suggested that treatment plans for segmental bone defects (SBDs) are affected by the bone defect sizes. If the selected treatment was not the most appropriate, it would not contribute to bone healing, but increase complications. The induced membrane technique (IM) and distraction osteogenesis (DO) have been proved to be effective in treating SBDs. However, the differences between the two in therapeutic effects on SBDs with different sizes are still unclear. Thus, we aimed to observe the effects of IM and DO on different sizes of SBDs and to further determine what method is more appropriate for what defect size. Rat models of 4-, 6-and 8-mm mid-diaphyseal defects using IM and DO techniques were established. X-rays, micro-CT, histological and immunohistochemical examinations were performed to assess bone repair. Faster bone formation rate, shorter treatment duration, higher expressions of OPN and OCN and higher parameters of bone properties including bone mineral density (BMD), bone volume/total tissue volume (BV/TV), mineral apposition rate (MAR) and mineral surface/bone surface (MS/BS) were found in 4-mm SBDs treated with DO than in those with IM treatment. However, the results were reversed and IM outperformed DO in bone repair capacity for 8-mm SBDs, while no significant difference emerges in the case of 6-mm SBDs. This study suggests that the therapeutic effects of IM and DO may be subjected to sizes of bone defects and the best treatment size of defects is different between the two. For small-sized SBDs, DO may be more suitable and efficient than IM, but IM has advantages over DO for over-sized SBDs, while DO and IM show similar bone repair capability in moderate-sized SBDs, which would offer a new insight into how to choose DO and IM for SBDs in clinical practice and provide references for further clinical research.
Wearables for Integrative Performance and Tactic Analyses: Opportunities, Challenges, and Future Directions

Micro-electromechanical systems (MEMS) have reduced drastically in size, cost, and power consumption, while improving accuracy. The combination of different sensor technologies is considered a promising step in the monitoring of athletes. Those “wearables” enable the capturing of relevant physiological and tactical information in individual and team sports and thus replacing subjective, time-consuming and qualitative methods with objective, quantitative ones. Prior studies mainly comprised sports categories such as: targeting sports, batting and fielding games as well as net and wall games, focusing on the detection of individual, non-locomotive movements. The increasing capabilities of wearables allow for more complex and integrative analysis expanding research into the last category: invasion sports. Such holistic approaches allow the derivation of metrics, estimation of physical conditions and the analysis of team strategic behavior, accompanied by integrative knowledge gains in technical, tactical, physical, and mental aspects of a sport. However, prior and current researchers find the precise measurement of the actual movement within highly dynamic and non-linear movement difficult. Thus, the present article showcases an overview of the environments in which the wearables are employed. It elaborates their use in individual as well as team-related performance analyses with a special focus on reliability and validity, challenges, and future directions.
Francisella opportunistica sp. nov., isolated from human blood and cerebrospinal fluid.

Two isolates of a Gram-negative, non-spore-forming coccobacillus cultured from the blood and cerebrospinal fluid of immunocompromised patients in the United States were described previously. Biochemical and phylogenetic analyses revealed that they belong to a novel species within the Francisella genus. Here we describe a third isolate of this species, recovered from blood of a febrile patient with renal failure, and formally name the Francisella species. Whole genome comparisons indicated the three isolates display greater than 99.9 % average nucleotide identity (ANI) to each other and are most closely related to the tick endosymbiont F. persica, with only 88.6-88.8 % ANI to the type strain of F. persica. Based on biochemical, metabolic and genomic comparisons, we propose that these three isolates should be recognized as Francisella opportunistica sp. nov, with the type strain of the species, PA05-1188T, available through the Deutsche Sammlung von Mikroorganismen und Zellkulturen (DSM 107100) and the American Type Culture Collection (ATCC BAA-2974).
Enniatin A1, A Natural Compound with Bactericidal Activity against Mycobacterium tuberculosis In Vitro

Background: Tuberculosis remains a global disease that poses a serious threat to human health, but there is lack of new and available anti-tuberculosis agents to prevent the emergence of drug-resistant strains. To address this problem natural products are still potential sources for the development of novel drugs. Methods: A whole-cell screening approach was utilized to obtain a natural compound enniatin A1 from a natural products library. The target compound’s antibacterial activity against Mycobacterium tuberculosis (M. tuberculosis) was evaluated by using the resazurin reduction micro-plate assay (REMA) method. The cytotoxicity of the compound against Vero cells was measured to calculate the selectivity index. The intracellular inhibition activity of enniatin A1 was determined. We performed its time-kill kinetic assay against M. tuberculosis. We first tested its synergistic effect in combination with the first and second-line anti-tuberculosis drugs. Finally, we measured the membrane potential and intracellular ATP levels of M. tuberculosis after exposure to enniatin A1. Results: We identified enniatinA1 as a potential antibacterial agent against M. tuberculosis, against which it showed strong selectivity. Enniatin A1 exhibited a time-concentration-dependent bactericidal effect against M. tuberculosis, and it displayed synergy with rifamycin, amikacin, and ethambutol. After exposure to enniatinA1, the membrane potential and intracellular ATP levels of M. tuberculosis was significantly decreased. Conclusions: Enniatin A1 exhibits the positive potential anti-tuberculosis agent characteristics.
Association of periodic limb movements during sleep and Parkinson disease

Abstract Both of periodic limb movements during sleep (PLMS) and Parkinson disease (PD) were related with dopaminergic system dysfunction. We aimed to investigate the detailed association of PLMS severity and PD. Clinical and overnight polysomnographic data of 2230 adults older than 40 from a community hospital between November 2011 and June 2017 in Taiwan were collected retrospectively. The association of PLMS severity and PD was analyzed by Fisher exact test, univariate, and multivariate logistic regression. The mean age was 55.6 years old (standard deviation = 9.8, range = 40–91) for all subjects. There were 2205 subjects without PD and 25 subjects with PD in this study. The distribution of PLMS severity was not significantly different between subjects without PD and with PD (Fischer exact test, P = .215). Also, PLMS was not significantly associated with PD using univariate and multivariate logistic regression. The PLMS severity was not associated with PD.
Ethnicity and Metabolic Syndrome: Implications for Assessment, Management and Prevention

The metabolic syndrome (MetS) is a constellation of cardiometabolic risk factors that identifies people at increased risk for type 2 diabetes and cardiovascular disease. While the global prevalence is 20%–25% of the adult population, the prevalence varies across different racial/ethnic populations. In this narrative review, evidence is reviewed regarding the assessment, management and prevention of MetS among people of different racial/ethnic groups. The most popular definition of MetS considers race/ethnicity for assessing waist circumference given differences in visceral adipose tissue and cardiometabolic risk. However, defining race/ethnicity may pose challenges in the clinical setting. Despite 80% of the world’s population being of non-European descent, the majority of research on management and prevention has focused on European-derived populations. In these studies, lifestyle management has proven an effective therapy for reversal of MetS, and randomised studies are underway in specific racial/ethnic groups. Given the large number of people at risk for MetS, prevention efforts need to focus at community and population levels. Community-based interventions have begun to show promise, and efforts to improve lifestyle behaviours through alterations in the built environment may be another avenue. However, careful consideration needs to be given to take into account the unique cultural context of the target race/ethnic group.
Deuterium-Depleted Water as Adjuvant Therapeutic Agent for Treatment of Diet-Induced Obesity in Rats

In this study, we present the potential application of deuterium-depleted water (DDW) for the prevention and adjuvant treatment of obesity in rats. We tested the hypothesis that DDW can alleviate diet-induced obesity (DIO) and its associated metabolic impairments. Rats fed a high-fat diet had an increased body weight index (BWI), glucose concentration, and level of certain proinflammatory cytokines; decreased levels of insulin in the serum; decreased tryptophan and serotonin in the brain, and a decreased concentration of some heavy metals in the liver. Drinking DDW at a concentration of 10 ppm deuterium/protium (D/H) ad libitum for 3 weeks restored the BWI, glucose (serum), tryptophan (brain), and serotonin (brain) levels and concentration of Zn in the liver in the DIO animals to those of the controls. The levels of proinflammatory cytokines (IL-1β, IL-6, IFNγ) and anti-inflammatory TNFα were decreased in DIO rats, while anti-inflammatory cytokine (IL-4, IL-10) levels remained at the control levels, which is indicative of a pathophysiological syndrome. In contrast, in groups of rats treated with DDW, a significant increase in anti-inflammatory (IL-4, IL-10) and proinflammatory cytokines (IFNγ) was observed. This finding indicates a reduction in systemic inflammation in obese animals treated with DDW. Similarly, the high-fat diet caused an increased level of oxidative stress products, which was accompanied by decreased activity of both superoxide dismutase and catalase, whereas the administration of DDW decreased the level of oxidative stress and enhanced antioxidant enzyme activities.
Evaluation of Store Environment Changes of an In-Store Intervention to Promote Fruits and Vegetables in Latino/Hispanic-Focused Food Stores

Implementing interventions that manipulate food store environments are one potential strategy for improving dietary behaviors. The present study evaluated intervention effects, from the El Valor de Nuestra Salud (The Value of Our Health) study, on in-store environmental changes within Latino/Hispanic-focused food stores (tiendas). Sixteen tiendas were randomly assigned to either: a six-month structural and social food store intervention or a wait-list control condition. Store-level environmental measures of product availability, placement, and promotion were assessed monthly from baseline through six-months post-baseline using store audits. Linear mixed effects models tested for condition-by-time interactions in store-level environmental measures. Results demonstrated that the intervention was successful at increasing the total number of fruit and vegetable (FV) promotions (p < 0.001) and the number of FV promotions outside the produce department (p < 0.001) among tiendas in the intervention versus control condition. No changes in product availability or placement were observed. Results suggests changing the marketing mix element of promotions within small stores is measurable and feasible in an in-store intervention. Difficulties in capturing changes in product availability and placement may be due to intervention implementation methods chosen by tiendas. It is important to build upon the lessons learned from these types of interventions to disseminate evidence-based in-store interventions.
Vitreous Antioxidants, Degeneration, and Vitreo-Retinopathy: Exploring the Links

The transparent vitreous body, which occupies about 80% of the eye’s volume, is laden with numerous enzymatic and non-enzymatic antioxidants that could protect the eye from oxidative stress and disease. Aging is associated with degeneration of vitreous structure as well as a reduction in its antioxidant capacity. A growing body of evidence suggests these age-related changes may be the precursor of numerous oxidative stress-induced vitreo-retinopathies, including vision degrading myodesopsia, the clinically significant entoptic phenomena that can result from advanced vitreous degeneration. Adequate intravitreal antioxidant levels may be protective against vitreous degeneration, possibly preventing and even improving vision degrading myodesopsia as well as mitigating various other vitreo-retinopathies. The present article is, therefore, a review of the different antioxidant molecules within vitreous and the inter-relationships between vitreous antioxidant capacity and degeneration.
Pedestrian Dead Reckoning-Assisted Visual Inertial Odometry Integrity Monitoring

Visual inertial odometers (VIOs) have received increasing attention in the area of indoor positioning due to the universality and convenience of the camera. However, the visual observation of VIO is more susceptible to the environment, and the error of observation affects the final positioning accuracy. To address this issue, we analyzed the causes of visual observation error that occur under different scenarios and their impact on positioning accuracy. We propose a new method of using the short-time reliability of pedestrian dead reckoning (PDR) to aid in visual integrity monitoring and to reduce positioning error. The proposed method selects optimized positioning by automatically switching between outputs from VIO and PDR. Experiments were carried out to test and evaluate the proposed PDR-assisted visual integrity monitoring. The sensor suite of experiments consisted of a stereo camera and an inertial measurement unit (IMU). Results were analyzed in detailed and indicated that the proposed system performs better for indoor positioning within an environment that contains low illumination, little background texture information, or few moving objects.
Applying Intervention Mapping to Improve the Applicability of Precious Memories, an Intervention for Depressive Symptoms in Nursing Home Residents

Precious memories (PM) is a life review intervention for depression in older adults with no to mild cognitive decline that has been implemented in multiple nursing homes (NHs) in the Netherlands. Previous research suggested its relevance but questioned its applicability. Therefore, this research aimed to (1) investigate the applicability of PM, and (2) increase its applicability, if necessary. Intervention mapping (IM) was used to achieve these goals: process evaluation through semi-structured interviews with psychologists (n = 11) and clients (n = 2) to identify potential improvements for PM and to set an improvement goal (IM-step 1); three focus groups with stakeholders (n = 20) to specify behaviors necessary to reach the improvement goal (IM-step 2); and selection of behavior change techniques and applications to facilitate attainment of these behaviors (IM-step 3). Results showed that psychologists perceived a high drop-out rate, which was partly due to PM being provided to clients that did not belong to the target group. Although PM was generally considered relevant, psychologists articulated its longer-term effects should be improved. To improve PM’s applicability, concrete maintenance strategies were developed aiming to maintain clients’ well-being by stimulating positive contact with others. Future research must pilot, implement and evaluate these strategies.
Exploring Mammalian Genome within Phase-Separated Nuclear Bodies: Experimental Methods and Implications for Gene Expression

The importance of genome organization at the supranucleosomal scale in the control of gene expression is increasingly recognized today. In mammals, Topologically Associating Domains (TADs) and the active/inactive chromosomal compartments are two of the main nuclear structures that contribute to this organization level. However, recent works reviewed here indicate that, at specific loci, chromatin interactions with nuclear bodies could also be crucial to regulate genome functions, in particular transcription. They moreover suggest that these nuclear bodies are membrane-less organelles dynamically self-assembled and disassembled through mechanisms of phase separation. We have recently developed a novel genome-wide experimental method, High-salt Recovered Sequences sequencing (HRS-seq), which allows the identification of chromatin regions associated with large ribonucleoprotein (RNP) complexes and nuclear bodies. We argue that the physical nature of such RNP complexes and nuclear bodies appears to be central in their ability to promote efficient interactions between distant genomic regions. The development of novel experimental approaches, including our HRS-seq method, is opening new avenues to understand how self-assembly of phase-separated nuclear bodies possibly contributes to mammalian genome organization and gene expression.
Extrinsic Calibration between Camera and LiDAR Sensors by Matching Multiple 3D Planes †

This paper proposes a simple extrinsic calibration method for a multi-sensor system which consists of six image cameras and a 16-channel 3D LiDAR sensor using a planar chessboard. The six cameras are mounted on a specially designed hexagonal plate to capture omnidirectional images and the LiDAR sensor is mounted on the top of the plates to capture 3D points in 360 degrees. Considering each camera–LiDAR combination as an independent multi-sensor unit, the rotation and translation between the two sensor coordinates are calibrated. The 2D chessboard corners in the camera image are reprojected into 3D space to fit to a 3D plane with respect to the camera coordinate system. The corresponding 3D point data that scan the chessboard are used to fit to another 3D plane with respect to the LiDAR coordinate system. The rotation matrix is calculated by aligning normal vectors of the corresponding planes. In addition, an arbitrary point on the 3D camera plane is projected to a 3D point on the LiDAR plane, and the distance between the two points are iteratively minimized to estimate the translation matrix. At least three or more planes are used to find accurate external parameters between the coordinate systems. Finally, the estimated transformation is refined using the distance between all chessboard 3D points and the LiDAR plane. In the experiments, quantitative error analysis is done using a simulation tool and real test sequences are also used for calibration consistency analysis.